Variants from Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	total
2546	1147	9102	7837	3886	1	5	24524

Gene and significance breakdown #

Total genes and gene combinations: 1912

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	total
PCNT	19	3	195	105	87	0	0	409
TTN	8	3	133	119	129	0	0	392
NIPBL	175	48	53	32	42	0	0	350
ASPM	63	3	103	39	54	0	0	262
BRCA2	17	1	102	113	27	0	0	260
NSD1	141	23	34	20	40	0	0	258
KMT2D	48	7	58	69	51	0	0	233
ABCC8	46	32	62	47	5	0	0	192
RYR1	16	14	50	25	62	0	0	167
MTM1	122	20	9	2	7	0	0	160
BRCA1	14	1	60	56	18	0	0	149
SLX4	0	1	85	37	23	0	0	146
VPS13B	6	0	89	41	10	0	0	146
ANK3	0	0	86	52	7	0	0	145
ATM	10	5	71	45	9	0	0	140
CREBBP	56	13	18	22	30	0	0	139
TERT	5	12	69	43	8	0	0	137
FANCA	14	6	64	39	11	0	0	134
WDR62	6	7	55	37	28	0	0	133
DYNC1H1	1	5	42	56	24	0	0	128
ARID1B	18	2	34	50	20	0	0	124
TRAPPC9	3	0	67	46	6	0	0	122
CHD7	32	3	33	22	30	0	0	120
MECP2	52	2	21	13	32	0	0	120
PLEC	0	0	20	95	3	0	0	118
DCX	84	20	3	2	3	0	0	112
PAFAH1B1	82	13	8	4	4	0	0	111
SYNE1	11	2	23	72	3	0	0	111
FLNA	1	1	45	46	16	0	0	109
ATP7A	71	14	8	3	9	0	0	105
SAMD9	0	1	70	22	10	0	0	103
GCK	29	32	24	11	6	0	0	102
RELN	6	0	44	32	18	0	0	100
CEP152	6	1	57	15	19	0	0	98
ANKRD26	0	2	60	18	16	0	0	96
NF1	3	2	40	34	17	0	0	96
CDK5RAP2	6	0	47	22	19	0	0	94
ADGRV1	0	0	13	75	3	0	0	91
MCPH1	4	4	38	23	21	0	0	90
ARFGEF2	1	0	62	20	6	0	0	89
KIF1A	1	3	50	30	5	0	0	89
BLM	1	1	47	34	5	0	0	88
MSH6	6	0	43	29	8	0	0	86
PMS2	3	1	45	24	11	0	0	84
ATM, C11orf65	11	2	45	19	6	0	0	83
ATR	1	3	30	33	16	0	0	83
RAI1	0	0	27	36	20	0	0	83
SMARCA4	3	3	31	29	17	0	0	83
DDX41	15	9	40	9	9	0	0	82
LRP2	1	2	29	45	4	0	0	81
HNF1A	15	8	26	23	8	0	0	80
NEB	5	2	15	49	8	0	0	79
SNHG14, UBE3A	32	5	23	11	8	0	0	79
CNTNAP2	0	0	41	26	10	0	0	77
SPTAN1	2	2	30	24	19	0	0	77
SYNE2	0	0	3	45	29	0	0	77
PALB2	7	1	38	24	6	0	0	76
RTEL1, RTEL1-TNFRSF6B	4	2	32	30	8	0	0	76
SAMD9L	0	2	44	16	13	0	0	75
ARID1A	4	1	22	36	11	0	0	74
ATP7B	21	6	6	5	36	0	0	74
LAMC3	0	0	28	43	3	0	0	74
MSH2	0	0	49	18	7	0	0	74
INSR	3	4	29	24	13	0	0	73
PLA2G6	22	20	19	2	9	0	0	72
POLE	0	0	35	26	11	0	0	72
SCN2A	5	4	28	21	14	0	0	72
KNL1	0	2	38	18	13	0	0	71
RTTN	1	0	31	34	5	0	0	71
TSC2	2	1	10	43	15	0	0	71
CEP290	6	1	27	31	5	0	0	70
ALMS1	6	0	35	20	8	0	0	69
KCNJ11	15	11	24	8	11	0	0	69
ZNF407	0	0	35	31	3	0	0	69
FANCI	1	0	44	16	7	0	0	68
CTC1	8	3	32	19	5	0	0	67
GATA2	4	8	35	14	6	0	0	67
APC	2	1	34	14	15	0	0	66
BRIP1	4	3	31	21	7	0	0	66
NRXN1	0	0	42	22	2	0	0	66
EHMT1	0	1	20	38	6	0	0	65
LAMA2	0	1	25	24	15	0	0	65
RECQL4	1	1	24	25	14	0	0	65
COL6A3	1	0	9	29	24	0	0	63
PNKP	4	4	32	14	9	0	0	63
ZEB2	17	0	15	15	15	0	0	62
HNF4A	5	12	24	11	8	0	0	60
CENPJ	8	1	31	5	14	0	0	59
CHEK2	5	1	38	11	2	1	0	58
ZNF335	0	1	32	23	2	0	0	58
NIN	1	0	24	27	5	0	0	57
TUBGCP6	2	0	31	21	3	0	0	57
ATRX	1	0	25	22	8	0	0	56
CC2D1A	0	0	36	14	6	0	0	56
FANCM	0	0	28	17	11	0	0	56
POLD1	0	0	23	23	10	0	0	56
CPLANE1	5	2	13	32	3	0	0	55
CSF3R	1	1	33	14	5	0	0	54
LMNA	23	9	11	7	4	0	0	54
WFS1	3	6	10	22	13	0	0	54
CDKL5	23	4	15	3	8	0	0	53
FANCD2, LOC107303338	2	0	28	14	9	0	0	53
HUWE1	0	0	23	24	6	0	0	53
MLH1	2	0	30	17	4	0	0	53
TUBA1A	7	18	10	5	12	0	0	52
ERCC4	1	2	26	19	3	0	0	51
ADGRG1	10	3	19	10	8	0	0	50
AGRN	0	0	10	28	12	0	0	50
ARX	22	2	12	10	4	0	0	50
NRXN2	0	0	27	19	4	0	0	50
VLDLR	1	1	31	15	2	0	0	50
NBN	3	2	28	10	6	0	0	49
TCF4	14	9	7	13	6	0	0	49
D2HGDH	2	1	20	23	2	0	0	48
HCFC1	0	0	17	26	5	0	0	48
NPAT	0	0	29	9	10	0	0	48
CACNA1A	7	5	8	25	2	0	0	47
CASK	18	3	10	9	7	0	0	47
CDT1	1	0	21	15	10	0	0	47
TYR	30	10	5	1	0	0	1	47
CDH15	0	0	12	30	4	0	0	46
EP300	3	0	12	13	18	0	0	46
SLC2A1	9	3	11	12	11	0	0	46
SYNGAP1	9	1	11	21	4	0	0	46
CBL	0	0	24	14	7	0	0	45
MAN1B1	0	1	26	13	5	0	0	45
OCA2	17	12	12	4	0	0	0	45
FOXG1	13	7	9	9	6	0	0	44
GRIN2A	1	1	20	17	5	0	0	44
RUNX1	3	4	27	5	5	0	0	44
SHANK2	0	1	20	19	4	0	0	44
SMC1A	9	12	11	7	5	0	0	44
SRP72	0	0	24	14	6	0	0	44
POT1	0	4	28	5	6	0	0	43
RET	2	1	21	13	6	0	0	43
TSEN54	7	1	11	8	16	0	0	43
AP4E1	0	0	27	13	2	0	0	42
CC2D2A	5	4	7	22	4	0	0	42
CEP135	0	1	25	13	3	0	0	42
DOCK8	0	0	19	14	9	0	0	42
GRIN2B	0	1	17	17	7	0	0	42
MPL	10	5	15	7	5	0	0	42
ASXL3	2	0	15	11	13	0	0	41
SMARCA2	2	3	10	13	13	0	0	41
NSUN2	0	0	20	20	0	0	0	40
PARN	6	0	16	13	5	0	0	40
PCDH19	1	1	19	12	7	0	0	40
SDHA	0	2	14	18	6	0	0	40
PRSS12	0	0	25	13	1	0	0	39
STIL	0	1	23	6	9	0	0	39
CCDC88C	0	0	5	4	29	0	0	38
CDH1	0	0	14	16	8	0	0	38
CENPF	0	0	20	8	9	0	0	37
COL6A1	1	1	8	16	11	0	0	37
DYSF	1	0	7	28	1	0	0	37
TP53	5	5	13	12	2	0	0	37
FBN2	0	0	10	17	9	0	0	36
GJB2	29	0	2	0	5	0	0	36
MAGEL2	0	0	9	15	12	0	0	36
MYH3	0	1	5	18	12	0	0	36
POMT1	1	0	15	10	10	0	0	36
SMC3	0	7	20	1	8	0	0	36
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	12	6	12	2	2	0	2	36
AP4B1	4	2	16	12	1	0	0	35
EBP	15	17	2	0	1	0	0	35
ETV6	4	1	16	10	4	0	0	35
L1CAM	5	0	11	7	12	0	0	35
NHS	0	0	11	16	8	0	0	35
TSEN2	0	2	15	5	13	0	0	35
LRBA	0	1	13	11	9	0	0	34
MED12	0	1	15	14	4	0	0	34
ORC1	1	1	15	10	7	0	0	34
PACS1	1	0	8	23	2	0	0	34
RAB3GAP2	1	0	22	9	2	0	0	34
SOBP	0	0	23	7	4	0	0	34
AOPEP, FANCC	1	0	21	8	3	0	0	33
FLNC	0	0	2	13	18	0	0	33
GAA	6	4	4	5	14	0	0	33
OFD1	3	1	12	7	10	0	0	33
GRIK2	0	0	15	12	5	0	0	32
INS, INS-IGF2	4	7	14	6	1	0	0	32
NBEAL2	2	0	12	11	7	0	0	32
ACD	0	0	19	9	3	0	0	31
ACTG1	2	3	5	14	7	0	0	31
BAP1	5	4	7	6	9	0	0	31
CACNA1D	0	0	11	13	7	0	0	31
DYNC2H1	0	0	19	12	0	0	0	31
ERCC6L2	0	0	19	6	6	0	0	31
MBD5	0	0	11	19	1	0	0	31
MECOM	0	0	13	12	6	0	0	31
NDST1	0	0	18	12	1	0	0	31
RAB3GAP1	2	0	13	12	4	0	0	31
ANKRD11	4	2	6	10	8	0	0	30
CEP63	1	0	16	7	6	0	0	30
EPB41L1	0	0	5	19	6	0	0	30
FANCF	0	0	19	8	3	0	0	30
FMN2	0	0	11	15	4	0	0	30
IQSEC2	3	0	18	6	3	0	0	30
KCNT1	1	0	7	18	4	0	0	30
KIRREL3	0	0	11	14	5	0	0	30
LARGE1	0	0	11	17	2	0	0	30
PAX5	0	0	9	17	4	0	0	30
POLG, POLGARF	3	2	11	11	3	0	0	30
RBBP8	1	0	21	5	3	0	0	30
SETBP1	4	1	10	3	12	0	0	30
SHROOM4	0	0	9	12	9	0	0	30
TBC1D4	0	0	7	20	3	0	0	30
VWF	0	0	14	13	3	0	0	30
AFF2	0	0	12	11	6	0	0	29
DNM2	7	3	5	6	8	0	0	29
FKRP	2	1	14	7	5	0	0	29
KIF7	0	1	7	19	2	0	0	29
STXBP1	4	2	11	9	3	0	0	29
TET2	0	0	14	8	7	0	0	29
WRN	0	0	7	20	2	0	0	29
AIRE	1	0	6	13	8	0	0	28
CEBPA	3	0	17	4	4	0	0	28
DYRK1A	4	3	10	8	3	0	0	28
KIF11	9	1	8	4	6	0	0	28
LYST	1	0	14	12	1	0	0	28
SLC16A2	10	5	7	3	3	0	0	28
TUBB3	2	1	12	10	3	0	0	28
AP4M1	0	1	18	5	3	0	0	27
AR	5	5	2	7	8	0	0	27
CEL	0	0	13	8	6	0	0	27
FANCB	0	0	10	9	8	0	0	27
FRAS1	2	0	11	8	6	0	0	27
FRMPD4	0	0	15	9	3	0	0	27
KCNQ2	3	5	5	5	9	0	0	27
PTEN	3	5	15	2	2	0	0	27
SCN1A, SCN9A	0	0	7	20	0	0	0	27
CLIP1	0	0	18	7	1	0	0	26
COL6A2	0	3	3	12	8	0	0	26
DNAJC21	1	0	17	7	1	0	0	26
KMT2A	7	3	3	7	6	0	0	26
MKS1	3	0	14	7	2	0	0	26
MPDZ	1	0	5	3	17	0	0	26
PLCB1	0	0	5	9	12	0	0	26
TTC21B	0	1	9	15	1	0	0	26
BARD1	1	0	11	6	7	0	0	25
CARD11	0	1	7	13	4	0	0	25
ELANE	2	0	11	8	4	0	0	25
FANCL	1	1	14	8	1	0	0	25
FAT4	0	0	10	11	4	0	0	25
FOXP1	2	0	10	9	4	0	0	25
GFI1	0	0	12	9	4	0	0	25
INPP5E	0	0	5	18	2	0	0	25
L2HGDH	3	1	13	8	0	0	0	25
PPARG	3	5	10	6	1	0	0	25
RBBP6	0	0	13	10	2	0	0	25
RPGRIP1L	0	3	8	11	3	0	0	25
SCN8A	1	3	6	14	1	0	0	25
ST3GAL3	0	0	19	5	1	0	0	25
ZC3H14	0	0	17	8	0	0	0	25
ZNF526	0	0	16	5	4	0	0	25
ATG2B	0	0	5	10	9	0	0	24
CENPE	0	0	15	6	3	0	0	24
LAMB1	0	0	14	8	2	0	0	24
LIG4	1	0	15	6	2	0	0	24
LOC102724058, SCN1A	4	3	9	4	4	0	0	24
NEXMIF	2	0	12	8	2	0	0	24
SLC6A8	2	0	5	11	6	0	0	24
TINF2	2	1	11	7	3	0	0	24
TMEM67	2	5	5	9	3	0	0	24
UNC13D	1	1	13	8	1	0	0	24
BBS9	0	0	7	9	7	0	0	23
FANCG	0	0	16	5	2	0	0	23
GH-LCR, SCN4A	0	0	3	12	8	0	0	23
HPS1	5	1	9	6	2	0	0	23
MAGI2	0	0	3	13	7	0	0	23
SACS	6	1	6	9	1	0	0	23
SETD2	0	0	7	8	8	0	0	23
SLC9A6	2	1	8	4	8	0	0	23
TCTN2	2	0	4	14	3	0	0	23
ALG6	1	1	12	8	0	0	0	22
C3	0	0	5	10	7	0	0	22
GLIS3	0	1	7	12	2	0	0	22
KDM6A	3	4	2	3	10	0	0	22
LOC110806306, TERC	1	6	12	1	2	0	0	22
MED17	0	1	9	8	4	0	0	22
MYH8, MYHAS	0	0	3	10	9	0	0	22
NDE1	2	0	12	6	2	0	0	22
NEB, RIF1	1	2	4	13	2	0	0	22
OPHN1	1	0	9	5	7	0	0	22
PKD1	1	4	4	7	6	0	0	22
VPS45	0	0	15	7	0	0	0	22
WAS	3	0	8	7	4	0	0	22
AHI1	1	1	5	9	5	0	0	21
ATP13A2	0	0	7	4	10	0	0	21
CIT	0	0	7	7	7	0	0	21
DDHD2	0	0	15	5	1	0	0	21
FANCE	1	0	11	4	5	0	0	21
GLI3	1	0	7	9	4	0	0	21
GRIN1	0	1	9	10	1	0	0	21
LINS1	1	0	8	10	2	0	0	21
NSDHL	4	3	4	6	4	0	0	21
ROR2	0	0	11	3	7	0	0	21
SETD5	0	1	10	8	2	0	0	21
SZT2	1	2	13	4	1	0	0	21
TBC1D24	0	2	9	9	1	0	0	21
TCOF1	3	0	0	17	1	0	0	21
TUBB2B	1	8	7	1	4	0	0	21
UCP2	0	0	13	5	3	0	0	21
WRAP53	0	0	10	6	5	0	0	21
APOB	2	3	4	9	2	0	0	20
BIN1	1	0	4	9	6	0	0	20
CCDC22	0	0	8	9	3	0	0	20
CP	0	1	10	6	3	0	0	20
EFHC1	1	0	7	11	1	0	0	20
EZR	0	0	10	9	1	0	0	20
KDM5C	1	1	10	4	4	0	0	20
MED23	0	0	13	6	1	0	0	20
MUTYH	5	0	8	5	2	0	0	20
PTPN11	3	0	4	9	4	0	0	20
SLC25A22	1	1	8	4	6	0	0	20
TSC1	0	1	4	9	6	0	0	20
WASHC4	0	0	16	4	0	0	0	20
AP3B1	0	0	5	14	0	0	0	19
BCOR	0	0	7	9	3	0	0	19
BLK	0	0	4	11	4	0	0	19
BRCA1, LOC126862571	1	0	9	8	1	0	0	19
DHCR7	2	2	5	7	3	0	0	19
DOK7	4	1	0	8	6	0	0	19
ECEL1	4	2	3	8	2	0	0	19
FANCC	0	1	14	2	2	0	0	19
IDH2	1	0	6	11	1	0	0	19
MRTFA	0	0	6	8	5	0	0	19
PAX4	0	0	6	7	6	0	0	19
POMGNT2	1	0	13	4	1	0	0	19
POMT2	2	3	7	5	2	0	0	19
RAD51C	1	0	10	4	4	0	0	19
SLC12A6	2	0	2	7	8	0	0	19
SPG7	8	9	0	2	0	0	0	19
SYN1	0	1	11	7	0	0	0	19
BRWD3	0	0	7	7	4	0	0	18
CAPN3	5	1	3	7	2	0	0	18
CRBN	0	0	11	6	1	0	0	18
FANCA, ZNF276	1	0	7	8	2	0	0	18
IFT172	0	0	11	3	4	0	0	18
INSL6, JAK2	0	0	9	3	6	0	0	18
KLLN, PTEN	0	0	13	2	3	0	0	18
MYH7	0	0	2	8	8	0	0	18
NAF1	0	3	10	2	3	0	0	18
PIGL	1	0	17	0	0	0	0	18
ZNF81	0	0	7	3	8	0	0	18
ALAS2	0	0	7	7	3	0	0	17
ARX, LOC109610631	6	1	5	2	3	0	0	17
BBS10	3	0	5	7	2	0	0	17
CDKN1C	1	0	1	11	4	0	0	17
CHAT	0	2	2	8	5	0	0	17
GP1BA	1	0	2	8	6	0	0	17
IKZF1	1	0	8	7	1	0	0	17
ITGA7	1	0	2	13	1	0	0	17
KCNJ10	0	3	6	8	0	0	0	17
MID1	0	0	8	4	5	0	0	17
PIK3R1	1	1	4	10	1	0	0	17
PTCHD1	0	1	9	5	2	0	0	17
RFX6	0	1	5	8	3	0	0	17
RIN2	0	0	7	10	0	0	0	17
STK11	0	0	9	7	1	0	0	17
WWOX	0	0	8	6	3	0	0	17
ALK	0	0	6	6	4	0	0	16
ARID1B, LOC115308161	0	0	3	7	6	0	0	16
BBS1, ZDHHC24	2	0	9	3	2	0	0	16
BBS12	2	1	4	4	5	0	0	16
COQ8A	4	6	3	3	0	0	0	16
DEAF1	0	0	6	4	6	0	0	16
DICER1	0	0	6	6	4	0	0	16
FREM2	0	0	8	5	3	0	0	16
GATAD2B	3	0	4	6	3	0	0	16
GLUD1	4	3	1	4	4	0	0	16
HAX1	1	0	9	5	1	0	0	16
KATNB1	0	0	3	13	0	0	0	16
KLF11	0	0	6	9	1	0	0	16
MYH9	2	2	7	2	3	0	0	16
OCRL	0	0	11	2	3	0	0	16
PIK3CD	0	0	5	7	4	0	0	16
POMGNT1, TSPAN1	2	1	8	4	1	0	0	16
PRF1	2	0	6	6	2	0	0	16
RARS2	2	2	4	4	4	0	0	16
SBF2	0	0	9	6	1	0	0	16
SDCCAG8	3	0	7	5	1	0	0	16
SHANK3	1	0	6	5	4	0	0	16
SRPX2	0	0	9	5	2	0	0	16
WDR81	0	0	2	14	0	0	0	16
ZFP57	2	2	5	3	4	0	0	16
ADAT3, SCAMP4	0	0	10	4	1	0	0	15
ADNP	1	0	4	6	4	0	0	15
ARHGEF6	0	0	4	8	3	0	0	15
CASR	2	6	4	3	0	0	0	15
CRB2	0	0	4	5	6	0	0	15
DIPK1A, RPL5	0	2	4	6	3	0	0	15
DKC1	0	2	5	4	4	0	0	15
DLG3	0	0	8	6	1	0	0	15
EZH2	3	1	1	4	6	0	0	15
FANCD2, FANCD2OS	2	0	11	1	1	0	0	15
FH	0	1	8	5	1	0	0	15
FKTN	0	0	4	9	2	0	0	15
GNAS	4	3	4	0	4	0	0	15
ITGB3	0	1	6	7	1	0	0	15
KCNMA1	0	0	4	9	2	0	0	15
LOC110806263, TERT	1	1	10	1	2	0	0	15
MEF2C	4	0	5	4	2	0	0	15
NLGN3	0	0	8	5	2	0	0	15
ORC4	2	1	8	2	2	0	0	15
PGAP1	1	1	9	4	0	0	0	15
PHC1	0	0	8	5	2	0	0	15
PLIN1	0	0	6	7	2	0	0	15
PMM2	2	4	7	2	0	0	0	15
RAD50	1	0	8	3	3	0	0	15
RELN, SLC26A5	0	0	7	8	0	0	0	15
SCN1A	1	3	2	8	1	0	0	15
SLC29A3	4	0	0	10	1	0	0	15
SLC45A2	5	2	8	0	0	0	0	15
AKT2	0	0	4	7	3	0	0	14
ALDH5A1	1	0	9	4	0	0	0	14
ATP1A3	3	4	5	2	0	0	0	14
BCOR, LOC126863239	0	0	8	4	2	0	0	14
CNTN1	0	0	5	6	3	0	0	14
DES	0	1	2	5	6	0	0	14
ERCC6	4	1	2	7	0	0	0	14
FOXP3	1	2	6	3	2	0	0	14
GDI1	0	0	6	7	1	0	0	14
GSN	0	0	3	9	2	0	0	14
HDAC8	3	3	5	1	2	0	0	14
HPS5	1	0	7	4	2	0	0	14
KPTN	0	1	9	3	1	0	0	14
MC4R	3	3	5	3	0	0	0	14
MEN1	1	0	6	5	2	0	0	14
MYBPC1	0	0	3	5	6	0	0	14
NKX2-5	5	1	4	1	3	0	0	14
NLGN4X	0	0	4	6	4	0	0	14
NPC1	6	2	1	5	0	0	0	14
NR5A1	3	5	1	4	1	0	0	14
PDX1	2	1	7	4	0	0	0	14
PKHD1	1	1	7	2	3	0	0	14
PTCH1	0	0	5	3	6	0	0	14
RAD21	4	0	6	0	4	0	0	14
RAD51D, RAD51L3-RFFL	0	0	7	5	2	0	0	14
RPS6KA3	2	0	3	4	5	0	0	14
SLC16A1	0	0	8	4	2	0	0	14
SLC6A17	0	0	7	7	0	0	0	14
SMAD4	0	0	3	6	5	0	0	14
SRCAP	3	0	1	6	4	0	0	14
STAMBP	1	2	8	3	0	0	0	14
STXBP2	0	0	7	5	2	0	0	14
ARSL	0	1	2	0	10	0	0	13
CTCF	0	0	5	5	3	0	0	13
EGFR	0	0	7	1	5	0	0	13
EIF2AK3	1	0	5	5	2	0	0	13
ESCO2	4	1	6	1	1	0	0	13
GATA4	0	0	5	5	3	0	0	13
HNF1B	0	1	7	2	3	0	0	13
ITGA2B	1	0	6	3	3	0	0	13
KIFBP	0	0	6	2	5	0	0	13
LOC126862798, ZNF407	0	0	8	5	0	0	0	13
MUSK	1	1	2	4	5	0	0	13
RAD51	0	0	8	4	1	0	0	13
SH2B3	0	0	3	5	5	0	0	13
SPG11	1	1	4	7	0	0	0	13
TECR	0	0	4	8	1	0	0	13
TTI2	0	0	8	4	1	0	0	13
TUBGCP4	1	0	3	5	4	0	0	13
USB1	2	0	9	1	1	0	0	13
ACSL4	0	0	6	3	3	0	0	12
ADAMTS13	0	1	3	5	3	0	0	12
ATP1A2	1	0	2	9	0	0	0	12
AXIN2	0	0	1	7	4	0	0	12
BMPR1A	0	0	3	7	2	0	0	12
DNMT3A	0	0	5	4	3	0	0	12
EFTUD2	4	0	3	5	0	0	0	12
GATA6	1	1	2	5	3	0	0	12
HPS6	1	1	5	5	0	0	0	12
KIT	0	0	4	5	3	0	0	12
KMT2D, LOC126861520	5	0	3	2	2	0	0	12
LEPR	0	0	7	4	1	0	0	12
LOC101927055, TTN	0	0	2	4	6	0	0	12
LURAP1L, TYRP1	2	1	5	2	2	0	0	12
MAOA	0	0	6	5	1	0	0	12
NHP2	0	0	9	2	1	0	0	12
NPHP1	4	0	2	4	2	0	0	12
NPHP4	0	0	6	5	1	0	0	12
NTRK2	0	0	5	5	2	0	0	12
OCLN	3	0	7	0	2	0	0	12
RPS19	0	3	6	1	2	0	0	12
SELENON	1	1	3	3	4	0	0	12
SETX	1	1	2	8	0	0	0	12
SPTBN2	1	4	5	2	0	0	0	12
TPP1	2	0	4	5	1	0	0	12
TSEN34	0	0	5	4	3	0	0	12
TSTD3, USP45	0	0	8	3	1	0	0	12
TUSC3	0	0	6	5	1	0	0	12
ABCG5, DYNC2LI1	0	0	2	5	4	0	0	11
AGPAT2	3	0	3	3	2	0	0	11
ANKRD26, LOC130003554	0	0	7	3	1	0	0	11
ANO10	5	0	3	3	0	0	0	11
AP4S1	1	0	6	3	1	0	0	11
C12orf57	0	0	9	2	0	0	0	11
CAST, LOC101929710, PCSK1	0	0	5	4	2	0	0	11
CDC6	0	0	5	4	2	0	0	11
CFHR4	0	0	0	5	6	0	0	11
CHRNA4	0	0	1	10	0	0	0	11
CHRND	0	0	5	4	2	0	0	11
CLN5	2	1	3	5	0	0	0	11
COL18A1	1	1	2	1	6	0	0	11
CXCR4	1	0	7	2	1	0	0	11
DTNBP1	1	0	6	3	1	0	0	11
EPCAM	0	0	4	5	2	0	0	11
ERLIN2	0	1	7	2	1	0	0	11
EXOSC3	4	1	4	2	0	0	0	11
FA2H	0	1	3	2	5	0	0	11
FMR1	0	0	2	8	1	0	0	11
HPS4	0	0	6	5	0	0	0	11
ITPR1	1	2	3	5	0	0	0	11
KBTBD13	0	0	1	4	6	0	0	11
LOC126807619, NSD1	8	3	0	0	0	0	0	11
MBD4	0	0	7	3	1	0	0	11
MKKS	1	0	8	2	0	0	0	11
MSH3	0	0	5	4	2	0	0	11
MYO5A	0	0	6	4	1	0	0	11
PHF8	0	0	5	2	4	0	0	11
SBDS	4	0	3	3	1	0	0	11
SRD5A2	4	2	4	1	0	0	0	11
TRIO	0	0	0	5	6	0	0	11
TRMT10A	0	0	9	1	1	0	0	11
TUBA8	0	0	3	5	3	0	0	11
TUBB1	0	3	4	1	3	0	0	11
ZFYVE26	0	1	2	8	0	0	0	11
ABCG8	0	0	3	3	4	0	0	10
ACTA1	2	1	2	4	1	0	0	10
ALDH7A1	0	0	4	4	2	0	0	10
ANO5	0	1	2	4	3	0	0	10
ARHGEF9	0	0	7	3	0	0	0	10
ATXN1, LOC108663993	0	0	6	4	0	0	0	10
CDKL5, RS1	0	0	3	3	4	0	0	10
CIDEC	0	0	3	5	2	0	0	10
CSPP1	2	2	2	2	2	0	0	10
CTNNB1	0	1	0	5	4	0	0	10
DCAF17	1	1	2	5	1	0	0	10
DYRK1B	0	0	2	6	2	0	0	10
EIF2AK3, LOC101928371	1	1	4	3	1	0	0	10
ERMARD	0	0	3	4	3	0	0	10
FGFR1	2	2	3	3	0	0	0	10
FGFR3	2	0	2	2	4	0	0	10
HERC1	0	0	5	4	1	0	0	10
KCNQ3	0	0	2	8	0	0	0	10
KIAA0586	1	1	6	1	1	0	0	10
KIF14	0	0	2	6	2	0	0	10
LOC101928008, SBF2	0	0	6	3	1	0	0	10
LRP5	0	0	2	7	1	0	0	10
MLC1	1	1	0	8	0	0	0	10
MLPH	0	0	4	5	1	0	0	10
PDGFRA	0	0	0	7	3	0	0	10
PMS1	0	0	7	2	1	0	0	10
POMC	1	0	3	4	2	0	0	10
POR	2	0	8	0	0	0	0	10
SF3B4	5	0	4	1	0	0	0	10
SLC19A3	1	0	2	6	1	0	0	10
SMARCB1	0	2	1	5	2	0	0	10
SPECC1L, SPECC1L-ADORA2A	0	0	0	3	7	0	0	10
TCTN1	1	0	1	8	0	0	0	10
TG	1	0	5	3	1	0	0	10
TMEM231	2	0	2	6	0	0	0	10
UCP3	0	0	5	3	2	0	0	10
VHL	0	0	9	0	1	0	0	10
ZNF711	0	0	5	5	0	0	0	10
ACTB	2	2	0	2	3	0	0	9
ADA2	2	1	3	3	0	0	0	9
AFG2A	0	1	5	1	2	0	0	9
ANGPT2, MCPH1	1	0	2	6	0	0	0	9
AP5Z1	0	0	1	8	0	0	0	9
BBS7	0	0	5	3	1	0	0	9
BRAT1	3	1	2	0	3	0	0	9
BSCL2, HNRNPUL2-BSCL2	3	0	4	2	0	0	0	9
CENPJ, RNF17	1	1	4	1	2	0	0	9
CFHR5	0	0	1	4	4	0	0	9
CHD2	0	0	5	2	2	0	0	9
COL18A1, SLC19A1	1	0	1	3	4	0	0	9
CUL4B	0	1	4	1	3	0	0	9
DAG1	0	0	5	4	0	0	0	9
DIS3	0	0	3	2	4	0	0	9
DIS3L2	0	0	2	6	1	0	0	9
FBXO31	0	0	4	4	1	0	0	9
FGFR2	4	0	1	2	2	0	0	9
GATA1	1	0	4	4	0	0	0	9
HADH	0	0	4	3	2	0	0	9
IFT122	0	0	4	3	2	0	0	9
INS	1	1	4	1	2	0	0	9
ITK	0	0	6	0	3	0	0	9
LMNB2	0	0	4	5	0	0	0	9
LOC105369149, SBF2	0	0	4	4	1	0	0	9
MET	0	0	2	5	2	0	0	9
NOTCH2	0	0	1	3	5	0	0	9
PLK4	0	0	3	3	3	0	0	9
PRICKLE1	0	0	2	7	0	0	0	9
SDHB	0	1	3	2	3	0	0	9
SIM1	0	0	3	4	2	0	0	9
SLC25A1	0	0	6	2	1	0	0	9
SLC25A19	0	0	5	3	1	0	0	9
TAF2	0	0	4	4	1	0	0	9
WDR45	3	4	2	0	0	0	0	9
XRCC2	0	0	5	3	1	0	0	9
ZDHHC15	0	0	4	2	3	0	0	9
ADSL	3	1	1	3	0	0	0	8
AFF4	0	0	2	3	3	0	0	8
AGMO	0	0	4	1	3	0	0	8
AR, LOC109504725	0	0	0	5	3	0	0	8
ARID1A, LOC129929837	2	0	4	1	1	0	0	8
BBS1	0	0	7	1	0	0	0	8
BRCA1, LOC111589215	0	0	6	0	2	0	0	8
BTD	6	0	2	0	0	0	0	8
CA8	0	0	3	3	2	0	0	8
CCDC78	0	0	1	5	2	0	0	8
CFI	0	0	3	3	2	0	0	8
CLCN4	1	0	2	3	2	0	0	8
CLN6	1	0	3	4	0	0	0	8
CRPPA	0	1	4	3	0	0	0	8
DYNC1H1, LOC126862060	0	0	4	4	0	0	0	8
ENG, LOC102723566	2	1	4	1	0	0	0	8
GFI1B	0	0	3	1	4	0	0	8
GPR143	2	1	2	3	0	0	0	8
HIVEP2	0	0	0	4	4	0	0	8
HSD17B3, SLC35D2-HSD17B3	2	4	1	1	0	0	0	8
IFT74	0	0	6	1	1	0	0	8
LHCGR, STON1-GTF2A1L	1	0	2	4	1	0	0	8
LIPE	0	0	3	3	2	0	0	8
LIPE, LOC101930071	0	1	2	3	2	0	0	8
LMNA, LOC126805877	1	2	2	1	2	0	0	8
MAP3K1	0	0	3	3	2	0	0	8
MAPKBP1	0	0	2	5	1	0	0	8
MNX1	3	3	0	2	0	0	0	8
MPI	1	1	1	4	1	0	0	8
MUTYH, TOE1	0	0	2	3	3	0	0	8
NEK1	0	0	4	2	2	0	0	8
ORC6	2	1	4	0	1	0	0	8
PGM1	0	0	5	2	1	0	0	8
PKD2	3	1	1	1	2	0	0	8
PPP1R15B	0	0	3	2	3	0	0	8
PRKCG	0	3	3	2	0	0	0	8
PYCR2	0	1	1	3	3	0	0	8
SCN4A	0	0	2	3	3	0	0	8
SDHD	1	0	4	2	1	0	0	8
SEPSECS	0	0	2	1	5	0	0	8
TSPAN7	0	0	4	3	1	0	0	8
UBR1	0	0	4	1	3	0	0	8
WDR19	0	0	4	2	2	0	0	8
AMH	0	0	3	3	1	0	0	7
ASNS, CZ1P-ASNS	2	2	0	3	0	0	0	7
BBS5	0	1	1	4	1	0	0	7
BIVM-ERCC5, ERCC5	1	0	2	4	0	0	0	7
BLOC1S3	0	0	1	2	4	0	0	7
C19orf12	2	3	0	1	1	0	0	7
CDKN2A	0	1	4	1	1	0	0	7
CEP120	0	0	2	4	1	0	0	7
CFTR	1	0	1	5	0	0	0	7
CHRNA2	0	0	1	6	0	0	0	7
CTNNB1, LOC126806658	1	0	3	3	0	0	0	7
CTPS1	1	0	1	5	0	0	0	7
DMD	1	1	1	2	2	0	0	7
FANCI, POLG, POLGARF	0	0	3	3	1	0	0	7
FGA	0	0	6	1	0	0	0	7
FOXA2	0	0	0	6	1	0	0	7
G6PC3	3	0	2	1	1	0	0	7
GFPT1	0	0	3	2	2	0	0	7
GRIA3	0	0	1	4	2	0	0	7
IFT140	1	0	1	5	0	0	0	7
KLLN, LOC130004273, PTEN	0	0	4	1	2	0	0	7
LOC129993918, MAP3K1	0	0	1	2	4	0	0	7
MAF, WWOX	0	0	4	1	2	0	0	7
METTL23	1	1	3	1	1	0	0	7
MTTP	1	0	0	6	0	0	0	7
NKIRAS1, RPL15	0	0	5	0	2	0	0	7
NPHP3, NPHP3-ACAD11	0	0	3	1	3	0	0	7
PAK3	0	0	3	3	1	0	0	7
PIEZO2	0	0	4	0	3	0	0	7
PIK3R5	0	0	1	6	0	0	0	7
POLR3A	0	2	3	1	1	0	0	7
POMK	0	0	3	4	0	0	0	7
PPT1	2	0	1	4	0	0	0	7
PRICKLE2	0	0	1	6	0	0	0	7
RAPSN	0	0	1	6	0	0	0	7
RPS24	0	0	2	4	1	0	0	7
RPS26	1	0	4	1	1	0	0	7
SASS6	0	0	2	1	4	0	0	7
SCN1B	1	1	2	3	0	0	0	7
SH3TC2	1	0	1	5	0	0	0	7
SLC2A2	0	0	1	4	2	0	0	7
SNAP29	1	0	4	0	2	0	0	7
SOX11	0	0	3	3	1	0	0	7
TCTN3	0	0	3	4	0	0	0	7
TNNI2	2	1	1	3	0	0	0	7
TNNT3	2	0	0	4	1	0	0	7
TP53, WRAP53	0	0	7	0	0	0	0	7
TTC8	0	0	4	1	2	0	0	7
TUBG1	1	0	2	3	1	0	0	7
WDPCP	0	0	5	0	2	0	0	7
WDR35	0	0	6	1	0	0	0	7
WNT5A	0	1	5	0	1	0	0	7
WT1	0	1	4	2	0	0	0	7
ZFPM2	0	0	2	2	3	0	0	7
ABCC8, KCNJ11	0	0	0	3	3	0	0	6
ACTN1	0	0	1	3	2	0	0	6
AHDC1	0	0	0	2	4	0	0	6
AMHR2	3	0	1	2	0	0	0	6
APPL1	0	0	1	2	3	0	0	6
ARL13B	0	0	2	3	1	0	0	6
ATP6V0A2	0	0	4	2	0	0	0	6
BBS4	0	0	2	2	2	0	0	6
BCKDHA	1	1	0	4	0	0	0	6
BCKDK	0	1	2	3	0	0	0	6
C17orf107, CHRNE	1	1	0	2	2	0	0	6
CAMTA1	0	0	2	4	0	0	0	6
CASP10	0	0	3	1	2	0	0	6
CDH15, LOC130059794	0	0	2	3	1	0	0	6
CDK6	0	0	2	3	1	0	0	6
CLN3	0	0	2	4	0	0	0	6
CLN8	1	1	1	2	1	0	0	6
COL6A2, FTCD	0	0	0	2	4	0	0	6
COQ8B	0	0	3	1	2	0	0	6
CPS1	0	0	2	4	0	0	0	6
CTSD	0	0	0	6	0	0	0	6
CYP11A1	0	0	1	4	1	0	0	6
EFNB1	3	2	1	0	0	0	0	6
EIF2S3	0	0	1	3	2	0	0	6
ETV6, LOC126861452	0	1	2	2	1	0	0	6
FANCA, LOC112486223	2	0	3	0	1	0	0	6
FAS	0	0	2	1	3	0	0	6
FBN1	1	0	0	3	2	0	0	6
FTSJ1	0	0	3	2	1	0	0	6
GABRA1	0	0	2	3	1	0	0	6
GJA1	2	2	1	1	0	0	0	6
HEXA	2	1	0	3	0	0	0	6
HEXB	1	1	1	2	1	0	0	6
HSD17B10	0	0	5	1	0	0	0	6
IL1RAPL1	0	0	1	2	3	0	0	6
INF2	0	0	1	1	4	0	0	6
JAG1	0	0	1	3	2	0	0	6
KDM1A	0	0	2	2	2	0	0	6
LAMA2, LOC123864065	0	0	3	2	1	0	0	6
LOC126806425, TTN	0	0	2	2	2	0	0	6
LOC126806430, TTN	0	0	2	4	0	0	0	6
LOC129935183, TTN	0	0	1	3	2	0	0	6
LOC130001468, VLDLR	0	0	2	2	2	0	0	6
MAMLD1	0	0	2	1	3	0	0	6
MAN2B1	1	1	0	4	0	0	0	6
MFSD2A	0	0	3	2	1	0	0	6
MITF	0	0	1	2	3	0	0	6
MVP-DT, PRRT2	1	0	2	2	1	0	0	6
NF2	0	0	1	5	0	0	0	6
PEX7	5	1	0	0	0	0	0	6
PIK3R2	1	0	0	2	3	0	0	6
PLP1, RAB9B	0	0	4	1	1	0	0	6
PMM2, TMEM186	0	0	3	0	3	0	0	6
PNPO	1	0	1	4	0	0	0	6
POC1A	0	0	2	4	0	0	0	6
PQBP1	0	0	5	1	0	0	0	6
PRMT7	0	0	2	4	0	0	0	6
PRX	0	0	0	6	0	0	0	6
PURA	0	0	3	3	0	0	0	6
RAB18	0	0	2	4	0	0	0	6
RIPK4	0	0	4	2	0	0	0	6
RPS10, RPS10-NUDT3	0	1	1	2	2	0	0	6
SLC1A4	0	0	3	2	1	0	0	6
SRC	0	0	1	2	3	0	0	6
STAT3	0	0	1	2	3	0	0	6
SUFU	0	0	3	3	0	0	0	6
TACR3	1	0	3	2	0	0	0	6
TGM6	0	0	2	4	0	0	0	6
TMEM43	0	0	1	0	5	0	0	6
TUBB2A	2	0	1	2	1	0	0	6
UPF3B	0	0	3	2	1	0	0	6
VRK1	0	0	3	3	0	0	0	6
ZNF674	0	0	2	1	3	0	0	6
AAAS	1	2	1	1	0	0	0	5
ABCC8, LOC110121471	2	0	2	1	0	0	0	5
ADA	1	0	1	3	0	0	0	5
ALG13	0	0	3	0	2	0	0	5
ALG9	0	1	1	2	1	0	0	5
ALPL	0	0	3	2	0	0	0	5
AMACR, C1QTNF3-AMACR	0	0	1	4	0	0	0	5
APOA1	0	0	3	1	1	0	0	5
ARID1A, LOC126805670	0	0	2	3	0	0	0	5
ASTN2, TRIM32	1	0	1	3	0	0	0	5
ATN1, LOC109461484	0	0	4	1	0	0	0	5
ATXN1	0	0	0	5	0	0	0	5
ATXN3	0	0	2	3	0	0	0	5
B3GLCT	1	1	2	0	1	0	0	5
BBS2	0	0	3	1	1	0	0	5
BRCA2, LOC106721785	0	0	4	0	1	0	0	5
CBL, LOC130006895	0	0	2	2	1	0	0	5
CDC73	2	0	1	1	1	0	0	5
CEP290, LOC129390514	1	0	2	2	0	0	0	5
CHD7, LOC126860403	1	0	1	1	2	0	0	5
CHMP1A	1	0	1	2	1	0	0	5
CHRNE	0	0	0	3	2	0	0	5
COL4A3, MFF-DT	0	0	1	1	3	0	0	5
COLQ	0	0	1	2	2	0	0	5
DBT	2	0	1	2	0	0	0	5
DEPDC5	1	0	4	0	0	0	0	5
DGKE	0	0	2	0	3	0	0	5
DHCR24	0	1	2	1	1	0	0	5
DKC1, LOC130068886	0	0	5	0	0	0	0	5
DMAC2L, L2HGDH	0	0	1	4	0	0	0	5
DMRTA2	0	0	1	0	4	0	0	5
EFL1	0	0	2	3	0	0	0	5
ENG	2	0	1	2	0	0	0	5
FANCE, LOC129996245	0	1	3	1	0	0	0	5
FOLR1	1	0	3	1	0	0	0	5
GABRG2	0	0	1	4	0	0	0	5
GCM2	0	0	0	2	3	0	0	5
GLI2	0	0	2	3	0	0	0	5
GNA11	0	0	0	3	2	0	0	5
GP1BB, SEPT5-GP1BB	2	1	2	0	0	0	0	5
GRM1	0	0	0	5	0	0	0	5
HNF1B, LOC126862549	1	0	2	2	0	0	0	5
HPS3	0	0	3	0	2	0	0	5
IL4I1, NUP62	0	0	1	4	0	0	0	5
JMJD8, STUB1	1	2	2	0	0	0	0	5
KATNIP	0	1	2	2	0	0	0	5
KCNC3	2	0	3	0	0	0	0	5
KIDINS220	0	0	0	2	3	0	0	5
LOC100507346, PTCH1	0	0	3	1	1	0	0	5
LOC101928335, MID2	0	0	3	0	2	0	0	5
LOC107303340, VHL	1	1	0	3	0	0	0	5
LOC107982234, WT1	0	0	1	3	1	0	0	5
LOC126806427, TTN	0	0	2	3	0	0	0	5
LOC126806428, TTN	0	0	1	2	2	0	0	5
LOC126860469, ZFPM2	0	0	0	2	3	0	0	5
LOC126862494, MYH8, MYHAS	0	0	2	1	2	0	0	5
LOC126862902, RYR1	0	0	1	0	4	0	0	5
LOC129992625, SRP72	0	0	2	2	1	0	0	5
LOC130002133, PTCH1	0	0	1	2	2	0	0	5
LOC130004273, PTEN	0	0	5	0	0	0	0	5
LRP4	0	0	3	0	2	0	0	5
LRPPRC	1	1	0	3	0	0	0	5
MED25	0	0	1	2	2	0	0	5
MEGF8	0	0	3	1	1	0	0	5
MFSD8	0	0	1	2	2	0	0	5
MIF4GD-DT, SLC25A19	0	0	2	2	1	0	0	5
MTOR	0	0	2	2	1	0	0	5
MYH11, NDE1	0	0	1	4	0	0	0	5
NFIX	4	0	1	0	0	0	0	5
PCLO	0	0	1	2	2	0	0	5
PDHA1	0	0	2	2	1	0	0	5
PDYN	0	0	5	0	0	0	0	5
PTF1A	0	1	2	1	1	0	0	5
RAB39B	1	0	2	2	0	0	0	5
RASGRP1	0	0	2	1	2	0	0	5
RPS7	0	0	3	1	1	0	0	5
SALL1	0	0	0	2	3	0	0	5
SCARF2	0	0	4	0	1	0	0	5
SDHAF2	0	0	2	2	1	0	0	5
SGCA	1	1	0	1	2	0	0	5
SGCG	0	0	0	3	2	0	0	5
SLC19A2	0	0	1	2	2	0	0	5
SLC6A19	1	0	1	3	0	0	0	5
SOS1	0	0	1	3	1	0	0	5
TBC1D20	0	0	3	2	0	0	0	5
TCF20	0	0	3	0	2	0	0	5
TMEM127	0	0	3	1	1	0	0	5
TNFRSF13B	0	2	1	0	2	0	0	5
TYRP1	0	0	2	3	0	0	0	5
ZBTB20	0	0	1	1	3	0	0	5
ZNF469	0	0	5	0	0	0	0	5
ACTN4	0	0	1	1	2	0	0	4
ALAS2, LOC108663984	0	0	2	1	1	0	0	4
AP1S2	2	0	0	2	0	0	0	4
APOA2	0	0	0	1	3	0	0	4
ARFGEF1-DT, CPA6	0	1	2	1	0	0	0	4
ARID1B, LOC115308161, LOC129997523	0	0	1	2	1	0	0	4
ARSA	3	1	0	0	0	0	0	4
ASL	2	1	0	1	0	0	0	4
ATM, LOC130006700	0	0	4	0	0	0	0	4
ATP6AP2	0	0	0	4	0	0	0	4
ATP8A2	0	0	1	3	0	0	0	4
ATXN3, LOC108663987	0	0	1	3	0	0	0	4
ATXN7	0	0	0	4	0	0	0	4
B3GALNT2	0	0	2	2	0	0	0	4
BICD2	0	1	1	1	1	0	0	4
CAVIN1	0	0	2	2	0	0	0	4
CD27	0	0	3	1	0	0	0	4
CDKN1B	0	0	1	3	0	0	0	4
CFH	0	0	0	2	2	0	0	4
CFHR1	0	0	1	1	2	0	0	4
CHD4	0	0	1	1	2	0	0	4
CHKB, CHKB-CPT1B	0	0	0	4	0	0	0	4
CHRNA1	0	0	0	3	1	0	0	4
CHRNB1	0	0	0	2	2	0	0	4
CHRNB2	0	0	1	2	1	0	0	4
CLCC1, GPSM2	0	0	2	2	0	0	0	4
COQ6, ENTPD5	1	0	0	3	0	0	0	4
CTNNA1	0	0	0	2	2	0	0	4
CWF19L1	1	0	0	3	0	0	0	4
CYP17A1	3	1	0	0	0	0	0	4
D2HGDH, LOC129936033	0	0	2	2	0	0	0	4
DHFR, MSH3	0	0	1	0	3	0	0	4
DIAPH1	0	0	3	1	0	0	0	4
DLAT	0	1	0	3	0	0	0	4
DNA2	0	0	3	1	0	0	0	4
DOCK8, LOC126860552	0	0	3	1	0	0	0	4
DPM2	0	0	0	2	2	0	0	4
DPYD	1	2	0	0	0	0	1	4
DUOX2	2	1	1	0	0	0	0	4
ESR1, SYNE1	0	0	1	3	0	0	0	4
FAM111A	0	0	2	0	2	0	0	4
FANCA, LOC130059837	0	1	2	1	0	0	0	4
FEZF1	0	0	0	2	2	0	0	4
FIG4	1	0	1	0	2	0	0	4
FLI1	0	2	0	2	0	0	0	4
FYB1	0	0	1	3	0	0	0	4
G6PC3, LOC130060959	1	0	2	1	0	0	0	4
GAMT	0	0	2	2	0	0	0	4
GMPPB	1	2	0	1	0	0	0	4
GNRHR	2	1	1	0	0	0	0	4
HCCS	0	0	2	2	0	0	0	4
HEPACAM	0	1	2	1	0	0	0	4
HSD3B2	0	0	1	2	1	0	0	4
IGBP1	0	0	3	0	1	0	0	4
INS, LOC109623489	0	0	1	0	3	0	0	4
INVS	0	0	1	1	2	0	0	4
KCNA1	0	0	1	3	0	0	0	4
KCNH5	0	0	2	1	1	0	0	4
KIF1B	0	0	0	4	0	0	0	4
LIX1L, LOC126805851, RBM8A	1	0	1	1	0	0	1	4
LOC108663996, TBP	0	0	3	1	0	0	0	4
LOC109611589, RUNX2	1	0	0	3	0	0	0	4
LOC111721705, ZEB2	1	0	1	2	0	0	0	4
LOC125467768, PCDH19	1	0	1	1	1	0	0	4
LOC126806420, TTN	0	0	1	0	3	0	0	4
LOC126860130, RELN, SLC26A5	0	0	2	2	0	0	0	4
LOC126861897, MHRT, MYH7	0	2	0	1	1	0	0	4
LOC128092249, PCNT	0	0	2	1	1	0	0	4
MAFA	0	0	0	2	2	0	0	4
MAPK10	0	0	1	3	0	0	0	4
MSTO1	0	1	2	1	0	0	0	4
MVK	1	0	1	2	0	0	0	4
NDUFAF1	0	0	0	4	0	0	0	4
NFIA	0	1	0	3	0	0	0	4
NHLRC1	0	1	1	1	1	0	0	4
NHP2, RMND5B	0	0	1	1	2	0	0	4
NKX2-2	0	0	1	2	1	0	0	4
NOP10	0	0	2	2	0	0	0	4
NOP56	0	0	0	4	0	0	0	4
NTHL1	0	0	2	2	0	0	0	4
PEX1	1	0	0	2	1	0	0	4
PGM3	0	1	0	3	0	0	0	4
PHF6	0	0	2	1	1	0	0	4
PHYH	0	1	0	3	0	0	0	4
PNPLA6	1	0	0	3	0	0	0	4
POLR3B	0	1	1	2	0	0	0	4
PRKAR1A	0	0	0	3	1	0	0	4
PRKCSH	0	0	1	3	0	0	0	4
PROKR2	0	0	2	2	0	0	0	4
PTPRJ	0	0	3	1	0	0	0	4
RB1	0	0	1	3	0	0	0	4
RNF135	0	0	1	1	2	0	0	4
RNF43	0	0	1	1	2	0	0	4
RUBCN	0	0	0	4	0	0	0	4
SDHC	1	1	0	0	2	0	0	4
SIN3A	0	0	2	2	0	0	0	4
SIX5	0	0	0	4	0	0	0	4
SLFN14	0	0	2	0	2	0	0	4
SMARCE1	1	1	0	2	0	0	0	4
SON	0	0	0	1	3	0	0	4
SPAST	1	0	3	0	0	0	0	4
SRD5A3	0	0	3	1	0	0	0	4
ST3GAL5	0	0	1	2	1	0	0	4
TCAP	0	0	1	0	3	0	0	4
THBD	0	0	1	1	2	0	0	4
TMEM70	0	0	0	4	0	0	0	4
TP53BP1, TUBGCP4	1	1	1	1	0	0	0	4
TPO	0	0	3	1	0	0	0	4
TSHR	1	2	1	0	0	0	0	4
TTR	0	0	2	0	2	0	0	4
ZFYVE27	0	0	1	3	0	0	0	4
ABHD12	0	0	0	3	0	0	0	3
ACVRL1	2	0	0	0	1	0	0	3
ADA, LOC107303343	0	0	1	2	0	0	0	3
ADCY3	0	0	0	1	2	0	0	3
ADRA2A	0	0	0	2	1	0	0	3
AFG3L2	0	0	1	2	0	0	0	3
AGPS	0	0	0	1	2	0	0	3
AKR1C2	0	0	1	1	1	0	0	3
ALMS1, LOC126806252	1	0	2	0	0	0	0	3
AP3D1	0	0	2	0	1	0	0	3
ARHGEF15	0	0	1	2	0	0	0	3
ARID1B, LOC129997525	0	0	2	1	0	0	0	3
ASPM, LOC129932155	1	0	1	0	1	0	0	3
ASS1	0	2	0	1	0	0	0	3
ASXL2	0	0	0	0	3	0	0	3
ATN1	0	0	1	2	0	0	0	3
ATXN2	0	0	2	1	0	0	0	3
AXIN1	0	0	0	1	2	0	0	3
B4GAT1	0	0	0	3	0	0	0	3
BTK	0	0	1	0	2	0	0	3
BUB1B	1	0	1	1	0	0	0	3
C2, CFB	0	0	0	1	2	0	0	3
CACNB4	0	0	0	3	0	0	0	3
CACNB4, LOC129934925	0	0	2	1	0	0	0	3
CAV3, OXTR	0	0	0	3	0	0	0	3
CD46	0	0	0	1	2	0	0	3
CDK4, TSPAN31	0	0	2	0	1	0	0	3
CDT1, LOC130059759	0	0	0	1	2	0	0	3
CEBPA, LOC130064183	0	0	3	0	0	0	0	3
CEP41	0	0	1	1	1	0	0	3
CHRNE, LOC130060041	1	0	1	1	0	0	0	3
CHST14	0	1	0	1	1	0	0	3
CIC	0	0	1	2	0	0	0	3
COG4	0	0	0	3	0	0	0	3
COL3A1	0	0	0	0	3	0	0	3
COL4A1	0	2	1	0	0	0	0	3
CRADD	0	0	2	1	0	0	0	3
CTC1, PFAS	1	0	1	1	0	0	0	3
CTLA4	0	0	2	0	1	0	0	3
CYP11B1, LOC106799833	0	0	2	1	0	0	0	3
DARS2	2	1	0	0	0	0	0	3
DDX11	0	0	0	2	1	0	0	3
DEAF1, LOC126861109	0	0	1	2	0	0	0	3
DHH	0	0	2	0	1	0	0	3
DMPK	0	0	0	2	1	0	0	3
DOCK7	0	0	2	0	1	0	0	3
EBF3	0	1	1	1	0	0	0	3
ENPP1	0	0	1	1	1	0	0	3
EP300, LOC126863158	0	0	2	0	1	0	0	3
EPM2A	0	0	0	3	0	0	0	3
EVC	0	0	1	1	1	0	0	3
EVC2	0	0	0	2	1	0	0	3
EYA1	0	0	0	2	1	0	0	3
FANCA, LOC132090450	0	1	1	1	0	0	0	3
FANCG, VCP	0	0	0	1	2	0	0	3
FANCL, VRK2	0	0	2	1	0	0	0	3
FLCN	0	0	0	2	1	0	0	3
GALC	2	0	1	0	0	0	0	3
GAREM2, HADHA	1	0	0	1	1	0	0	3
GATA2, LOC129937517	0	0	2	0	1	0	0	3
GBE1	1	0	2	0	0	0	0	3
GCDH	3	0	0	0	0	0	0	3
GLIS2	0	0	0	0	3	0	0	3
GNAO1	0	2	0	1	0	0	0	3
GPC3	1	0	0	2	0	0	0	3
GPSM2	0	0	3	0	0	0	0	3
GRIP1	0	0	3	0	0	0	0	3
HFE	2	0	0	1	0	0	0	3
HOXA13, LOC107126288	0	0	1	2	0	0	0	3
HOXB13	0	0	1	2	0	0	0	3
HPRT1	0	0	3	0	0	0	0	3
HSPD1	0	0	1	2	0	0	0	3
HUWE1, LOC126863263	0	0	1	1	1	0	0	3
IFT140, LOC105371046	0	0	1	2	0	0	0	3
IFT172, LOC126806173	0	0	2	1	0	0	0	3
IL11RA	0	0	2	1	0	0	0	3
IL17RD	0	0	2	1	0	0	0	3
IQCB1	0	0	2	1	0	0	0	3
KAT6A	0	0	0	0	3	0	0	3
KCND3	1	1	0	1	0	0	0	3
KCTD7	0	0	1	2	0	0	0	3
KIF1A, LOC126806583	0	0	2	0	1	0	0	3
KIF7, LOC126862216	0	1	0	2	0	0	0	3
KIFBP, LOC130003959	0	0	2	0	1	0	0	3
KLHDC8B	0	0	2	1	0	0	0	3
KSR2	0	0	1	0	2	0	0	3
LAMA1	0	0	3	0	0	0	0	3
LAMC3, LOC126860777	0	0	1	1	1	0	0	3
LARP7, MIR302CHG	0	0	0	3	0	0	0	3
LDLR	0	1	0	1	1	0	0	3
LMNA, LOC129931597	0	2	0	0	1	0	0	3
LOC110011216, PHOX2B	0	0	0	3	0	0	0	3
LOC112533671, TSEN54	1	0	0	0	2	0	0	3
LOC114803475, PPARG	0	1	2	0	0	0	0	3
LOC121627969, SYN1	0	0	2	1	0	0	0	3
LOC126806253, STAMBP	1	1	0	1	0	0	0	3
LOC126806424, TTN	0	0	0	2	1	0	0	3
LOC126806429, TTN	0	0	1	0	2	0	0	3
LOC126806431, TTN	0	0	0	2	1	0	0	3
LOC126859771, RFX6	0	0	2	1	0	0	0	3
LOC126860438, NBN	1	0	2	0	0	0	0	3
LOC126860797, NSMF	0	0	0	1	2	0	0	3
LOC126860802, ZMYND11	0	0	2	1	0	0	0	3
LOC126861232, NRXN2	0	0	1	2	0	0	0	3
LOC126863275, MED12	0	0	1	0	2	0	0	3
LOC129931218, SLC16A1	0	0	2	0	1	0	0	3
LOC130001411, RECQL4	0	0	1	0	2	0	0	3
LOC130004408, TCTN3	0	0	1	2	0	0	0	3
LOC130055602, NIN	0	0	2	1	0	0	0	3
LOC130068460, MAGT1	0	0	0	2	1	0	0	3
LYZ	0	0	2	1	0	0	0	3
MAGT1	0	0	2	1	0	0	0	3
METTL5	0	0	2	0	1	0	0	3
MRE11	0	0	0	3	0	0	0	3
MYEF2, SLC24A5	1	0	1	1	0	0	0	3
MYH2, MYHAS	0	0	0	2	1	0	0	3
MYO1E	0	0	1	1	1	0	0	3
MYOT, PKD2L2-DT	0	0	1	2	0	0	0	3
MYT1L	0	0	0	2	1	0	0	3
NALCN	0	0	3	0	0	0	0	3
NEUROD1	0	0	0	2	1	0	0	3
NEUROG3	1	0	0	1	1	0	0	3
NHEJ1	0	0	2	1	0	0	0	3
NPM1	0	0	1	0	2	0	0	3
NR0B1	0	0	0	1	2	0	0	3
NR0B2, NUDC	0	0	0	2	1	0	0	3
PEX10	0	0	1	2	0	0	0	3
PHIP	0	0	0	2	1	0	0	3
PI4KA, SNAP29	0	0	0	1	2	0	0	3
PLEKHG4	0	0	0	3	0	0	0	3
POLR1C	0	0	3	0	0	0	0	3
POMGNT1	0	0	2	0	1	0	0	3
PRDM9	0	0	0	3	0	0	0	3
PREPL	0	0	2	1	0	0	0	3
PRKACG	0	0	2	0	1	0	0	3
PSMB8	0	0	1	2	0	0	0	3
RXYLT1	0	0	0	2	1	0	0	3
SCN9A	0	0	1	2	0	0	0	3
SEMA3A	1	0	1	1	0	0	0	3
SGCD	0	0	0	2	1	0	0	3
SH2D1A	0	1	0	1	1	0	0	3
SKI	0	1	1	0	1	0	0	3
SLC13A5	0	0	1	1	1	0	0	3
SLC20A2	0	0	3	0	0	0	0	3
SLC26A4	0	1	1	0	1	0	0	3
SLC34A3	0	0	1	2	0	0	0	3
SMS	0	0	2	1	0	0	0	3
SPEG	0	0	2	1	0	0	0	3
SRP54	0	0	1	1	1	0	0	3
SRY	1	0	2	0	0	0	0	3
STAT1	0	0	1	1	1	0	0	3
STRADA	0	0	2	1	0	0	0	3
SYP	0	0	1	1	1	0	0	3
TBC1D23	0	0	0	1	2	0	0	3
TBC1D7, TBC1D7-LOC100130357	0	0	1	1	1	0	0	3
TCF12	1	0	2	0	0	0	0	3
TELO2	0	0	3	0	0	0	0	3
TFG	1	1	1	0	0	0	0	3
THRB	2	1	0	0	0	0	0	3
TMEM216	1	0	0	1	1	0	0	3
TMEM237	0	0	1	2	0	0	0	3
TNXB	0	0	1	2	0	0	0	3
TPM2	1	0	1	0	1	0	0	3
TRIM37	0	0	2	1	0	0	0	3
TTBK2	1	0	0	2	0	0	0	3
TTC19	1	1	1	0	0	0	0	3
TUBB4A	0	0	1	1	1	0	0	3
UBE2T	0	0	2	1	0	0	0	3
UMOD	0	0	1	2	0	0	0	3
UROC1	0	0	1	2	0	0	0	3
VDR	0	2	0	1	0	0	0	3
VPS53	0	1	2	0	0	0	0	3
WASHC5	0	0	2	1	0	0	0	3
XRCC3	0	0	2	1	0	0	0	3
ZIC2	1	1	1	0	0	0	0	3
ZMPSTE24	0	0	1	1	1	0	0	3
ZNF423	0	0	0	3	0	0	0	3
ZNF431	0	0	1	2	0	0	0	3
ZNF592	0	0	1	2	0	0	0	3
AARS2, POLR1C	0	2	0	0	0	0	0	2
ABCB11	0	0	1	1	0	0	0	2
ABCC6	1	0	1	0	0	0	0	2
ABCD1	0	0	2	0	0	0	0	2
ABCG5	0	0	2	0	0	0	0	2
ACO2	0	0	0	2	0	0	0	2
ACTG1, LOC130061940	0	0	1	1	0	0	0	2
ACTL6B	0	2	0	0	0	0	0	2
AIP	0	0	1	1	0	0	0	2
ALG14, LOC129930989	0	0	1	1	0	0	0	2
ALG8	0	0	2	0	0	0	0	2
ALX4	0	0	2	0	0	0	0	2
AMPD2, LOC126805822	0	0	2	0	0	0	0	2
ANKS6	0	0	1	1	0	0	0	2
ANLN	0	0	1	0	1	0	0	2
AP2S1	2	0	0	0	0	0	0	2
AP4B1, DCLRE1B, LOC129931235	0	0	0	2	0	0	0	2
APTX	2	0	0	0	0	0	0	2
ARFGEF1, CSPP1	0	0	1	1	0	0	0	2
ARFGEF2, LOC130066081	0	0	2	0	0	0	0	2
ASIC4, SPEG	0	0	0	2	0	0	0	2
ATCAY	2	0	0	0	0	0	0	2
ATL1	0	0	0	2	0	0	0	2
ATXN2, LOC130008792	0	0	0	2	0	0	0	2
B3GALNT2, TBCE	0	0	0	2	0	0	0	2
BBS5, LOC129935068	0	0	2	0	0	0	0	2
BCKDHB	1	1	0	0	0	0	0	2
BLK, LOC126860303	0	0	1	1	0	0	0	2
BMP4	0	0	1	1	0	0	0	2
BRAF	0	0	1	0	1	0	0	2
CACNA1A, LOC126862866	0	0	2	0	0	0	0	2
CACNA2D2	0	0	1	1	0	0	0	2
CACNG2	0	0	1	1	0	0	0	2
CAPN1	1	1	0	0	0	0	0	2
CAV3	0	0	0	2	0	0	0	2
CDK4	0	0	0	1	1	0	0	2
CDK5	0	0	1	1	0	0	0	2
CEP164	0	0	2	0	0	0	0	2
CFHR3	0	0	0	1	1	0	0	2
CFL2	0	0	2	0	0	0	0	2
CHD8	0	0	1	0	1	0	0	2
CHRNA4, LOC100130587	0	0	1	1	0	0	0	2
CLASP1, RNU4ATAC	1	1	0	0	0	0	0	2
CLN5, LOC130009913	0	0	0	2	0	0	0	2
CNKSR2	0	0	1	1	0	0	0	2
COL12A1	0	0	0	1	1	0	0	2
COL13A1	0	0	0	0	2	0	0	2
COL4A4	0	0	2	0	0	0	0	2
COL6A3, LOC126806573	0	0	0	0	2	0	0	2
COQ2	0	0	0	2	0	0	0	2
COQ2, LOC112997540	0	0	1	1	0	0	0	2
CP, HPS3	0	0	0	1	1	0	0	2
CPA6	0	0	0	2	0	0	0	2
CRBN, TRNT1	0	0	1	1	0	0	0	2
CREBBP, LOC130058357	0	1	1	0	0	0	0	2
CRPPA, LOC129998005	0	0	0	0	2	0	0	2
CTDP1	0	0	0	2	0	0	0	2
CTNNB1, LOC126806659	0	0	0	2	0	0	0	2
CTSD, PRADX	0	0	0	2	0	0	0	2
CTSF	2	0	0	0	0	0	0	2
CUL4B, LOC113845788	0	0	2	0	0	0	0	2
CUL7	0	0	1	0	1	0	0	2
CYP11B1	0	0	2	0	0	0	0	2
CYP24A1	0	0	0	1	1	0	0	2
CYP27A1	0	1	1	0	0	0	0	2
CYP7B1	1	0	1	0	0	0	0	2
DCDC2	0	0	2	0	0	0	0	2
DDX3X	0	1	0	0	1	0	0	2
DHX37	0	0	1	0	1	0	0	2
DIS3, PIBF1	0	0	0	1	1	0	0	2
DNAJB1, TECR	0	0	2	0	0	0	0	2
DNAJC3	0	0	1	1	0	0	0	2
DNM1	0	0	1	0	1	0	0	2
DNMT1	0	0	2	0	0	0	0	2
DNMT3B	0	0	0	2	0	0	0	2
DOLK	0	2	0	0	0	0	0	2
DSE, TSPYL1	0	0	0	1	1	0	0	2
DZIP1L	0	1	1	0	0	0	0	2
EEF1A2	0	1	0	0	1	0	0	2
EEF2	0	0	1	1	0	0	0	2
EIF2B3	0	0	1	1	0	0	0	2
EIF2B4, GTF3C2	0	0	0	2	0	0	0	2
EIF2B5	1	0	0	1	0	0	0	2
ELOVL4	0	2	0	0	0	0	0	2
EPM2A, EPM2A-DT, LOC129997381	0	0	0	1	1	0	0	2
ERCC4, LOC130058543	0	0	2	0	0	0	0	2
ERCC6, LOC126860933	1	0	0	1	0	0	0	2
ERCC6, PGBD3	0	0	1	1	0	0	0	2
ERF	0	0	1	1	0	0	0	2
ETHE1	0	2	0	0	0	0	0	2
ETV6, LOC126861451	0	0	1	1	0	0	0	2
FAT2, SLC36A1	0	0	2	0	0	0	0	2
FGF12	0	0	0	0	2	0	0	2
FGF8	0	1	1	0	0	0	0	2
FMN2, LOC126806069	0	0	2	0	0	0	0	2
FOXL2	0	0	0	1	1	0	0	2
FOXP1, LOC126806714	1	0	1	0	0	0	0	2
FOXP2	0	0	0	2	0	0	0	2
FTL	0	0	2	0	0	0	0	2
FXN	0	1	1	0	0	0	0	2
GABRB3	0	1	1	0	0	0	0	2
GALNT12	0	0	0	1	1	0	0	2
GAMT, NDUFS7	0	0	0	2	0	0	0	2
GATM	0	0	0	2	0	0	0	2
GBA2	0	0	1	1	0	0	0	2
GFI1, LOC129930930	0	0	1	0	1	0	0	2
GLB1	1	0	0	1	0	0	0	2
GLB1, LOC129936434, TMPPE	0	0	0	2	0	0	0	2
GLUD1, LOC130004254	0	0	2	0	0	0	0	2
GNPAT	0	0	2	0	0	0	0	2
GP9	0	0	2	0	0	0	0	2
GPAA1	0	1	1	0	0	0	0	2
GRN	0	0	2	0	0	0	0	2
HBB, LOC106099062, LOC107133510	2	0	0	0	0	0	0	2
HCN1	0	0	0	0	2	0	0	2
HFM1	0	0	1	0	1	0	0	2
HNF4A, R3HDML	0	0	2	0	0	0	0	2
HNRNPU	0	0	1	0	1	0	0	2
HOXA11	0	0	0	1	1	0	0	2
HPS6, LOC130004578	0	0	2	0	0	0	0	2
HRAS, LRRC56	0	0	1	0	1	0	0	2
IER3IP1	0	0	1	1	0	0	0	2
IFT172, LOC126806174	0	0	1	1	0	0	0	2
IL17RD, LOC126806689	0	0	1	0	1	0	0	2
IL2RA	1	0	1	0	0	0	0	2
IQCG, RPL35A	0	0	0	2	0	0	0	2
ITCH	0	0	1	0	1	0	0	2
ITGA7, LOC126861535	0	0	1	1	0	0	0	2
ITPR1, LOC126806590	0	0	0	2	0	0	0	2
IYD	0	0	2	0	0	0	0	2
KIF2A	0	1	0	0	1	0	0	2
KIF4A	0	0	1	0	1	0	0	2
KIF5C	0	0	1	1	0	0	0	2
KISS1R	0	0	2	0	0	0	0	2
KLF8	0	0	0	1	1	0	0	2
KLHL40	0	0	1	0	1	0	0	2
LAMB2	0	0	1	1	0	0	0	2
LDB3	0	0	0	2	0	0	0	2
LEP	0	0	0	2	0	0	0	2
LMNB1	0	0	0	2	0	0	0	2
LMOD3, LOC126806710	0	0	0	2	0	0	0	2
LOC100287944, POLR3B	0	1	0	1	0	0	0	2
LOC107985033, SLFN14	0	0	2	0	0	0	0	2
LOC112533672, UNC13D	0	0	2	0	0	0	0	2
LOC121627832, TCF4	0	0	2	0	0	0	0	2
LOC126805612, PIK3CD	0	0	1	0	1	0	0	2
LOC126805851, RBM8A	0	0	0	2	0	0	0	2
LOC126806421, TTN	0	0	0	2	0	0	0	2
LOC126806423, TTN	0	0	0	1	1	0	0	2
LOC126806426, TTN	0	0	0	1	1	0	0	2
LOC126806462, SATB2	0	1	0	1	0	0	0	2
LOC126807392, MAP3K1	0	0	1	1	0	0	0	2
LOC126860131, RELN	0	0	0	2	0	0	0	2
LOC126861339, SDHD	0	0	1	0	1	0	0	2
LOC126861801, TBC1D4	0	0	1	1	0	0	0	2
LOC126861898, MYH7	0	0	2	0	0	0	0	2
LOC126861936, NIN	0	0	1	1	0	0	0	2
LOC126862483, TP53, WRAP53	0	0	2	0	0	0	0	2
LOC126862757, TCF4	1	0	1	0	0	0	0	2
LOC126863188, SHANK3	0	0	2	0	0	0	0	2
LOC126863207, MID1	0	0	0	1	1	0	0	2
LOC127407129, RFX6	0	0	0	1	1	0	0	2
LOC129935184, TTN	0	0	1	1	0	0	0	2
LOC129937550, MBD4	0	0	0	2	0	0	0	2
LOC129999736, MNX1	0	0	0	2	0	0	0	2
LOC130003079, MAN1B1	0	0	1	1	0	0	0	2
LOC130006596, MED17	0	0	0	0	2	0	0	2
LOC130009266, POLE	0	0	1	1	0	0	0	2
LOC130056175, POMT2	1	0	1	0	0	0	0	2
LOC130067862, SCO2, TYMP	0	0	0	2	0	0	0	2
LOC130068854, MECP2	0	0	1	1	0	0	0	2
MAK16, TTI2	0	0	1	1	0	0	0	2
MAX	0	0	2	0	0	0	0	2
MCM9	0	1	1	0	0	0	0	2
MEGF10	0	0	0	1	1	0	0	2
MHRT, MYH7	0	0	0	1	1	0	0	2
MME	0	2	0	0	0	0	0	2
MMUT	2	0	0	0	0	0	0	2
MR1	0	0	0	2	0	0	0	2
MSX2	0	0	2	0	0	0	0	2
MTFMT	2	0	0	0	0	0	0	2
MYH11	2	0	0	0	0	0	0	2
MYO15A	1	1	0	0	0	0	0	2
MYRF	0	0	1	0	1	0	0	2
NAA10	0	0	2	0	0	0	0	2
NDUFA10	0	0	0	2	0	0	0	2
NDUFAF4	0	0	0	2	0	0	0	2
NDUFB3	0	2	0	0	0	0	0	2
NDUFS1	0	0	0	2	0	0	0	2
NDUFS2	0	0	0	2	0	0	0	2
NDUFS4	0	0	0	2	0	0	0	2
NDUFV2	0	0	0	2	0	0	0	2
NEU1	1	0	1	0	0	0	0	2
NIPA1	0	0	1	1	0	0	0	2
NKX2-1, SFTA3	0	1	0	1	0	0	0	2
NPHS1	0	0	0	2	0	0	0	2
NPHS2	0	0	0	1	1	0	0	2
NR3C2	0	0	2	0	0	0	0	2
OBSL1	0	0	0	1	1	0	0	2
OTC	0	0	0	1	1	0	0	2
PAH	1	1	0	0	0	0	0	2
PANK2	1	1	0	0	0	0	0	2
PAX8	0	1	1	0	0	0	0	2
PC	1	0	0	1	0	0	0	2
PCSK9	0	0	0	2	0	0	0	2
PDE4D	1	0	1	0	0	0	0	2
PDSS1	0	0	1	1	0	0	0	2
PHGDH	0	0	1	1	0	0	0	2
PHOX2B	0	0	0	1	1	0	0	2
PIK3CA	0	1	0	0	1	0	0	2
PPP2R5D	0	0	0	1	1	0	0	2
PREPL, SLC3A1	0	0	1	1	0	0	0	2
PRKN	1	1	0	0	0	0	0	2
PRNP	1	0	0	1	0	0	0	2
PROK2	1	0	0	0	1	0	0	2
PRPS1	0	0	1	1	0	0	0	2
PTH1R	0	0	0	2	0	0	0	2
QARS1	0	0	0	2	0	0	0	2
QDPR	2	0	0	0	0	0	0	2
RAB23	0	0	2	0	0	0	0	2
RAB27A	2	0	0	0	0	0	0	2
RBM8A	0	0	1	1	0	0	0	2
RNF216	0	0	1	1	0	0	0	2
RPL10	0	0	0	2	0	0	0	2
RPL11	0	0	2	0	0	0	0	2
RPL23	0	0	0	2	0	0	0	2
RPL26	0	0	2	0	0	0	0	2
RPL5	0	0	0	1	1	0	0	2
SCNN1B	0	0	0	2	0	0	0	2
SGPL1	0	0	1	0	1	0	0	2
SH2B1	0	0	2	0	0	0	0	2
SIL1	0	0	0	2	0	0	0	2
SLC17A5	1	0	0	1	0	0	0	2
SLC1A3	0	0	1	1	0	0	0	2
SMPD4	0	0	0	1	1	0	0	2
SOX9	0	0	2	0	0	0	0	2
STAR	0	0	0	2	0	0	0	2
STUB1	0	0	2	0	0	0	0	2
STX16, STX16-NPEPL1	0	0	1	1	0	0	0	2
SUOX	0	0	0	1	1	0	0	2
SYT14	0	0	1	1	0	0	0	2
TBCE	0	0	1	0	1	0	0	2
TBX1	0	0	2	0	0	0	0	2
TBX15	0	0	1	1	0	0	0	2
THRA	0	0	1	0	1	0	0	2
TMEM138	0	0	1	1	0	0	0	2
TMEM240	0	1	1	0	0	0	0	2
TMEM94	0	0	0	2	0	0	0	2
TNFRSF9	0	0	1	1	0	0	0	2
TNNI3, TNNT1	0	0	0	1	1	0	0	2
TNNT1	0	0	1	1	0	0	0	2
TPM3	0	1	0	1	0	0	0	2
TRAIP	0	0	0	0	2	0	0	2
TTPA	0	1	1	0	0	0	0	2
TUBB	0	2	0	0	0	0	0	2
TUBGCP2	0	0	1	1	0	0	0	2
TWIST1	1	0	1	0	0	0	0	2
USP9X	0	0	1	0	1	0	0	2
VARS1	0	0	2	0	0	0	0	2
VPS13D	1	1	0	0	0	0	0	2
WARS2	0	2	0	0	0	0	0	2
WDR11	0	0	1	1	0	0	0	2
ZDHHC9	0	0	0	1	1	0	0	2
ZMYND11	0	0	0	2	0	0	0	2
ZNF41	0	0	0	2	0	0	0	2
ZSWIM6	0	0	0	1	1	0	0	2
A2ML1	0	0	1	0	0	0	0	1
ABCA1	0	0	0	1	0	0	0	1
ABCA13	0	1	0	0	0	0	0	1
ABCB7	0	0	1	0	0	0	0	1
ABCC9	0	0	1	0	0	0	0	1
ABCD4	1	0	0	0	0	0	0	1
ABCG5, ABCG8	0	0	0	1	0	0	0	1
ABHD14A-ACY1, ACY1	0	1	0	0	0	0	0	1
ACADS	1	0	0	0	0	0	0	1
ACADVL	1	0	0	0	0	0	0	1
ACD, LOC130059224	0	0	1	0	0	0	0	1
ACOX1	1	0	0	0	0	0	0	1
ACSF3	0	1	0	0	0	0	0	1
ACTC1, GJD2-DT	0	1	0	0	0	0	0	1
ADAR	1	0	0	0	0	0	0	1
ADCY10	0	0	0	1	0	0	0	1
AGO1	0	1	0	0	0	0	0	1
AGPS, LOC129935172	0	0	0	0	1	0	0	1
AGRN, LOC126805576	0	0	0	1	0	0	0	1
AGRN, LOC129929078	0	0	0	0	1	0	0	1
AGTR2	0	0	0	0	1	0	0	1
AKT1	0	0	0	1	0	0	0	1
AKT3, SDCCAG8	0	0	0	1	0	0	0	1
ALDH5A1, GPLD1, LOC129995978	0	0	0	0	1	0	0	1
ALDH5A1, LOC129995978	0	0	1	0	0	0	0	1
ALDOB	1	0	0	0	0	0	0	1
ALG12	0	1	0	0	0	0	0	1
ALG14	0	0	1	0	0	0	0	1
ALX1	0	0	1	0	0	0	0	1
ALX1, LOC124629423	0	0	1	0	0	0	0	1
ALX3	0	0	0	1	0	0	0	1
AMACR, C1QTNF3-AMACR, SLC45A2	0	0	0	1	0	0	0	1
AMPD2	0	0	0	1	0	0	0	1
ANK3, LOC130003862	0	0	1	0	0	0	0	1
ANKLE2	0	0	0	0	1	0	0	1
ANOS1	1	0	0	0	0	0	0	1
APBA2	0	0	0	1	0	0	0	1
APOA5, LOC108491825	0	0	1	0	0	0	0	1
APOE	0	0	0	0	1	0	0	1
APOL1	0	0	0	0	1	0	0	1
APPL1, ASB14	0	0	1	0	0	0	0	1
APPL1, ASB14, LOC105377102	0	0	1	0	0	0	0	1
APPL1, LOC129936926	0	0	0	0	1	0	0	1
ARHGAP6, HCCS	0	0	0	1	0	0	0	1
ARHGEF6, LOC130068760	0	0	1	0	0	0	0	1
ARID1B, LOC115308161, LOC129997524	0	0	1	0	0	0	0	1
ARL14EP-DT, FSHB	1	0	0	0	0	0	0	1
ARV1, LOC129932761	0	0	0	1	0	0	0	1
ASPA, SPATA22	0	1	0	0	0	0	0	1
ATAD3A	0	0	1	0	0	0	0	1
ATP2B3	0	0	1	0	0	0	0	1
ATP6V0A2, LOC126861666	0	0	1	0	0	0	0	1
ATP6V0A2, TCTN2	0	0	0	1	0	0	0	1
ATP6V0A4	0	0	0	1	0	0	0	1
ATR, LOC126806830	0	0	0	1	0	0	0	1
AUH	0	0	0	1	0	0	0	1
AXDND1, NPHS2	0	0	0	0	1	0	0	1
B4GALNT1	0	1	0	0	0	0	0	1
B9D1	0	1	0	0	0	0	0	1
B9D1, LOC130060455	0	0	0	1	0	0	0	1
B9D2	0	0	1	0	0	0	0	1
BLOC1S6	0	0	0	1	0	0	0	1
BLTP1	0	0	1	0	0	0	0	1
BRD4	0	0	0	0	1	0	0	1
BRPF1	0	1	0	0	0	0	0	1
BSND	0	0	0	1	0	0	0	1
C10orf105, CDH23	0	1	0	0	0	0	0	1
C12orf43, HNF1A	0	0	0	0	1	0	0	1
CACNA1D, LOC129936904	0	0	1	0	0	0	0	1
CACNA1G	1	0	0	0	0	0	0	1
CACNA2D2, CYB561D2, LOC127898564	0	0	0	0	1	0	0	1
CAPN3, LOC126862115	0	0	0	1	0	0	0	1
CAPN3, LOC130056921	0	0	0	1	0	0	0	1
CASD1, SGCE	1	0	0	0	0	0	0	1
CASK, GPR82	0	0	0	1	0	0	0	1
CAV1	1	0	0	0	0	0	0	1
CAV1, LOC129999169	0	0	0	1	0	0	0	1
CBR4, PALLD	0	0	0	1	0	0	0	1
CCDC22, FOXP3	0	0	1	0	0	0	0	1
CCDC40, GAA	0	0	0	0	1	0	0	1
CCDC8	0	0	0	0	1	0	0	1
CCDC88A	0	0	1	0	0	0	0	1
CCDC88C, LOC130056326	0	0	0	0	1	0	0	1
CCND2	0	1	0	0	0	0	0	1
CCNF, TBC1D24	0	0	1	0	0	0	0	1
CD40LG	0	0	1	0	0	0	0	1
CD46, LOC129932405	0	0	0	0	1	0	0	1
CD70, LOC130063317	0	0	0	1	0	0	0	1
CDH23	0	0	1	0	0	0	0	1
CDK4, LOC130008148	0	0	1	0	0	0	0	1
CDKL5, LOC121853052	0	0	0	0	1	0	0	1
CDKN2A, LOC130001603	0	0	0	0	1	0	0	1
CEP104	0	1	0	0	0	0	0	1
CEP290, RLIG1	0	0	0	1	0	0	0	1
CEP83	0	0	1	0	0	0	0	1
CFB	0	0	0	1	0	0	0	1
CFTR, LOC111674477	0	0	0	1	0	0	0	1
CHAMP1	0	0	1	0	0	0	0	1
CHMP2B	0	0	1	0	0	0	0	1
CITED2, LOC129997307	0	0	1	0	0	0	0	1
CKAP2L, NT5DC4	0	0	0	0	1	0	0	1
CLCN1	0	0	1	0	0	0	0	1
CLIC2	0	0	0	1	0	0	0	1
CLPB	1	0	0	0	0	0	0	1
CLRN1	1	0	0	0	0	0	0	1
CNNM4	1	0	0	0	0	0	0	1
CNOT1	0	0	0	0	1	0	0	1
CNTNAP2, LOC126860216	0	0	0	0	1	0	0	1
COA7	0	1	0	0	0	0	0	1
COASY	0	1	0	0	0	0	0	1
COG8	1	0	0	0	0	0	0	1
COL11A2	0	0	1	0	0	0	0	1
COL4A2	0	1	0	0	0	0	0	1
COL5A1	0	0	1	0	0	0	0	1
COQ4	0	0	0	1	0	0	0	1
COX15	0	0	0	1	0	0	0	1
CPLANE1, LOC129389274	0	0	0	1	0	0	0	1
CREBBP, LOC130058357, LOC130058358	1	0	0	0	0	0	0	1
CRIPT	0	0	0	0	1	0	0	1
CRPPA, LOC129998004	1	0	0	0	0	0	0	1
CRYAB	0	0	1	0	0	0	0	1
CST3	0	0	0	1	0	0	0	1
CST3, LOC130065546	0	0	0	0	1	0	0	1
CST3, LOC130065547	0	0	0	0	1	0	0	1
CSTB	1	0	0	0	0	0	0	1
CSTB, LOC130066788	0	0	0	1	0	0	0	1
CTBP1	0	0	1	0	0	0	0	1
CTSA, LOC130065974	0	0	1	0	0	0	0	1
CYB5A	0	0	1	0	0	0	0	1
CYB5A, LOC132090521	0	0	0	1	0	0	0	1
CYBA	0	1	0	0	0	0	0	1
CYP21A2, LOC106780800	0	0	1	0	0	0	0	1
D2HGDH, LOC129936031	0	0	0	1	0	0	0	1
D2HGDH, LOC129936032	0	0	0	1	0	0	0	1
DCDC2, KAAG1	0	0	0	1	0	0	0	1
DCPS, GSEC	0	0	1	0	0	0	0	1
DHODH	0	0	0	1	0	0	0	1
DHODH, LOC126862390	0	0	0	1	0	0	0	1
DHX37, LOC130009166	0	0	1	0	0	0	0	1
DM1, LOC107075317, LOC129929037, SIX5	0	0	0	0	1	0	0	1
DM1, LOC107075317, SIX5	0	0	0	0	1	0	0	1
DMP1	0	0	1	0	0	0	0	1
DMPK, LOC107075317	0	0	0	0	1	0	0	1
DNAI1	1	0	0	0	0	0	0	1
DNAJB11	0	0	0	0	1	0	0	1
DNAJC21, LOC129993792	0	0	1	0	0	0	0	1
DNM1, LOC113839516	0	0	0	0	1	0	0	1
DOCK6	0	1	0	0	0	0	0	1
DOK7, LOC129992118	0	0	0	0	1	0	0	1
DOP1A, PGM3	0	0	1	0	0	0	0	1
DPAGT1, HMBS	0	0	0	0	1	0	0	1
DSP	0	1	0	0	0	0	0	1
DUT, LOC121530580	0	0	0	0	1	0	0	1
DVL1	1	0	0	0	0	0	0	1
DYNC2I1	0	1	0	0	0	0	0	1
DYSF, LOC122787137	0	0	0	1	0	0	0	1
EEF2, LOC130063169	0	0	0	1	0	0	0	1
EFCAB13-DT, ITGB3	0	0	1	0	0	0	0	1
EGLN1	0	0	0	1	0	0	0	1
EHMT1, LOC130003148	0	0	0	1	0	0	0	1
EIF2AK3, EIF2AK3-DT	0	0	0	0	1	0	0	1
EIF2B1	0	1	0	0	0	0	0	1
EIF2S3, LOC130068055	0	0	0	1	0	0	0	1
ELAC2	0	0	1	0	0	0	0	1
ELOVL5	0	0	1	0	0	0	0	1
EMD	0	0	1	0	0	0	0	1
EML1	0	0	0	1	0	0	0	1
EOMES, LOC129936390	0	0	1	0	0	0	0	1
EPAS1	0	0	0	1	0	0	0	1
EPG5	1	0	0	0	0	0	0	1
EPHA2	0	0	1	0	0	0	0	1
ERCC2	0	0	1	0	0	0	0	1
ERCC3	0	1	0	0	0	0	0	1
ERCC6, ERCC6-PGBD3	1	0	0	0	0	0	0	1
ERCC8, NDUFAF2	0	0	0	1	0	0	0	1
EVC, LOC129992144	0	0	1	0	0	0	0	1
EVC2, LOC126806961	0	0	0	1	0	0	0	1
EXO1	0	0	0	1	0	0	0	1
EZR, LOC126859852	0	0	1	0	0	0	0	1
FAM20A, PRKAR1A	0	0	0	0	1	0	0	1
FAM20C	0	0	0	1	0	0	0	1
FANCA, LOC132090445, ZNF276	0	0	1	0	0	0	0	1
FANCD2	0	0	0	1	0	0	0	1
FANCM, LOC130055524	0	0	1	0	0	0	0	1
FARS2	0	1	0	0	0	0	0	1
FASLG	0	0	1	0	0	0	0	1
FBN2, LOC126807501	0	0	0	1	0	0	0	1
FBXL4	1	0	0	0	0	0	0	1
FBXO11, MSH6	0	0	0	0	1	0	0	1
FGF17	0	0	0	0	1	0	0	1
FHL1	0	0	0	1	0	0	0	1
FIGLA	0	0	1	0	0	0	0	1
FLVCR1	0	0	0	1	0	0	0	1
FLVCR1, LOC129932486	0	0	0	1	0	0	0	1
FLVCR2	0	0	0	0	1	0	0	1
FOXE1	0	0	0	1	0	0	0	1
FOXRED1	0	0	0	1	0	0	0	1
FRAS1, LOC126807088	0	0	0	1	0	0	0	1
FTL, GYS1	0	0	0	0	1	0	0	1
FXN, LOC130001862	0	0	0	1	0	0	0	1
FXYD2, FXYD6-FXYD2	0	0	0	1	0	0	0	1
GAMT, LOC130062945	0	0	1	0	0	0	0	1
GAN	0	0	0	1	0	0	0	1
GANAB	0	0	0	0	1	0	0	1
GATA1, LOC119407405	0	0	1	0	0	0	0	1
GATA3	0	0	1	0	0	0	0	1
GATA3, LOC130003278	0	0	0	1	0	0	0	1
GATAD1, PEX1	0	0	0	1	0	0	0	1
GBA1, LOC106627981	1	0	0	0	0	0	0	1
GEN1	0	0	0	1	0	0	0	1
GFAP	0	0	1	0	0	0	0	1
GJC2	0	1	0	0	0	0	0	1
GLUD1, LOC130004255, SHLD2	0	0	0	1	0	0	0	1
GOSR2, LOC126862578, LRRC37A2	0	0	0	1	0	0	0	1
GOSR2, LRRC37A2	1	0	0	0	0	0	0	1
GP1BA, LOC130060044	0	0	1	0	0	0	0	1
GPC4	0	0	0	0	1	0	0	1
GPD1	0	0	1	0	0	0	0	1
GREM1	0	0	0	1	0	0	0	1
GRIK3	0	0	1	0	0	0	0	1
GSKIP	0	0	1	0	0	0	0	1
HADHA	0	0	0	1	0	0	0	1
HCFC1, LOC130068842	0	0	1	0	0	0	0	1
HIBCH	0	1	0	0	0	0	0	1
HLCS	0	0	0	1	0	0	0	1
HOGA1	0	0	0	0	1	0	0	1
HOXA1	0	0	0	1	0	0	0	1
HOXA11, LOC107126281	0	0	0	1	0	0	0	1
HSD11B1	0	0	0	1	0	0	0	1
HSD17B4, LOC129994460	1	0	0	0	0	0	0	1
HUWE1, LOC126863262	0	0	1	0	0	0	0	1
IDH2, IDH2-DT	0	0	1	0	0	0	0	1
IER3IP1, LOC130062441	0	0	1	0	0	0	0	1
IFIH1	0	0	1	0	0	0	0	1
IFT140, LOC126862260	0	0	0	1	0	0	0	1
IFT172, KRTCAP3	0	0	0	0	1	0	0	1
IGBP1, LOC130068396	0	0	1	0	0	0	0	1
IGF1R	0	0	0	1	0	0	0	1
IL2RA, LOC130003232	0	0	1	0	0	0	0	1
INSR, LOC130063353	0	0	1	0	0	0	0	1
IRF2BPL	1	0	0	0	0	0	0	1
IRF6	0	0	1	0	0	0	0	1
ITGB3, LOC130061044	1	0	0	0	0	0	0	1
ITPA	0	0	0	0	1	0	0	1
KANK1	0	0	1	0	0	0	0	1
KAT6B	0	0	0	1	0	0	0	1
KATNIP, LOC126862323	0	0	0	0	1	0	0	1
KCNA2	0	1	0	0	0	0	0	1
KCNN2, LOC101927078	0	0	1	0	0	0	0	1
KCNQ1	1	0	0	0	0	0	0	1
KCTD7, LOC129998533	0	0	1	0	0	0	0	1
KDM5C, LOC130068308	0	0	0	1	0	0	0	1
KIF1C	0	0	1	0	0	0	0	1
KIF2A, LOC129993961	0	0	1	0	0	0	0	1
KIF5A	0	0	1	0	0	0	0	1
KLHL41	0	0	0	0	1	0	0	1
KLLN, LOC130004271, PTEN	0	0	1	0	0	0	0	1
KMT2A, TTC36	1	0	0	0	0	0	0	1
KMT2B	0	0	1	0	0	0	0	1
KRT5	1	0	0	0	0	0	0	1
LARP7	0	0	0	1	0	0	0	1
LARP7, MIR302CHG, MIR302D, MIR367	1	0	0	0	0	0	0	1
LARS2	0	1	0	0	0	0	0	1
LDLRAP1	0	0	0	0	1	0	0	1
LEPR, LOC122094844	0	0	1	0	0	0	0	1
LGI1	0	0	1	0	0	0	0	1
LHX3	0	0	0	1	0	0	0	1
LIPC	0	0	0	1	0	0	0	1
LMBRD1	1	0	0	0	0	0	0	1
LMOD3	0	0	0	1	0	0	0	1
LOC106736614, RET	0	0	0	1	0	0	0	1
LOC107548112, REN	0	0	0	1	0	0	0	1
LOC108021846, SOX9	0	0	0	0	1	0	0	1
LOC108281134, SOX3	0	0	0	1	0	0	0	1
LOC108281177, SOX2, SOX2-OT	0	0	0	1	0	0	0	1
LOC114803470, SCN8A	0	0	0	1	0	0	0	1
LOC121852963, RNF125	0	0	0	1	0	0	0	1
LOC126806063, LYST	0	0	1	0	0	0	0	1
LOC126806433, TTN	0	0	0	0	1	0	0	1
LOC126806516, NHEJ1	0	0	0	1	0	0	0	1
LOC126806629, NKIRAS1, RPL15	0	0	1	0	0	0	0	1
LOC126806630, THRB	1	0	0	0	0	0	0	1
LOC126859837, SYNE1	0	0	0	1	0	0	0	1
LOC126860342, WRN	0	0	1	0	0	0	0	1
LOC126860498, WASHC5	0	0	0	1	0	0	0	1
LOC126860970, POLR3A	1	0	0	0	0	0	0	1
LOC126861509, PRICKLE1	0	0	1	0	0	0	0	1
LOC126862493, MYH8, MYHAS	0	0	0	1	0	0	0	1
LOC126862570, RPL27	0	0	0	1	0	0	0	1
LOC126862987, SEC23B	0	0	0	1	0	0	0	1
LOC126863137, MYH9	0	0	0	1	0	0	0	1
LOC126863212, OFD1	0	0	0	1	0	0	0	1
LOC126863256, WDR45	0	0	0	1	0	0	0	1
LOC129390903, RAD51C	0	0	1	0	0	0	0	1
LOC129391106, RYR1	0	0	1	0	0	0	0	1
LOC129929673, RPL11	0	0	0	1	0	0	0	1
LOC129930253, ZMPSTE24	0	0	0	1	0	0	0	1
LOC129933280, POMC	1	0	0	0	0	0	0	1
LOC129933707, MSH6	0	0	0	1	0	0	0	1
LOC129935185, TTN	0	0	0	0	1	0	0	1
LOC129935417, TMEM237	0	0	0	1	0	0	0	1
LOC129936665, SETD2	0	0	0	1	0	0	0	1
LOC129936736, QARS1	0	1	0	0	0	0	0	1
LOC129937586, NPHP3, NPHP3-ACAD11	0	0	0	1	0	0	0	1
LOC129992585, SGCB	0	0	1	0	0	0	0	1
LOC129992813, PKD2	0	0	0	0	1	0	0	1
LOC129993054, PLK4	0	0	1	0	0	0	0	1
LOC129993885, NDUFS4	0	0	0	1	0	0	0	1
LOC129995144, THG1L	0	1	0	0	0	0	0	1
LOC129996517, POLR1C	0	0	0	1	0	0	0	1
LOC129997480, SYNE1	0	0	0	1	0	0	0	1
LOC130001471, VLDLR	0	0	0	1	0	0	0	1
LOC130001875, SMC5	0	0	1	0	0	0	0	1
LOC130002651, STXBP1	0	0	0	1	0	0	0	1
LOC130003121, NSMF	0	0	0	1	0	0	0	1
LOC130004025, SLC29A3	0	0	0	1	0	0	0	1
LOC130004144, POLR3A, RPS24	0	0	0	1	0	0	0	1
LOC130004144, RPS24	0	0	1	0	0	0	0	1
LOC130004274, PTEN	0	0	1	0	0	0	0	1
LOC130004825, SFXN4	0	0	1	0	0	0	0	1
LOC130006099, PACS1	0	0	0	1	0	0	0	1
LOC130008642, WASHC4	0	0	1	0	0	0	0	1
LOC130008755, TCTN1	0	0	0	1	0	0	0	1
LOC130055403, TINF2	0	0	1	0	0	0	0	1
LOC130055850, MAX	0	0	1	0	0	0	0	1
LOC130057886, PLIN1	0	0	0	1	0	0	0	1
LOC130059131, USB1	0	0	0	1	0	0	0	1
LOC130059440, TMEM231	0	0	0	0	1	0	0	1
LOC130060313, PIGL	0	0	1	0	0	0	0	1
LOC130061271, MKS1	0	0	0	1	0	0	0	1
LOC130061627, USH1G	0	1	0	0	0	0	0	1
LOC130062899, STK11	0	0	0	1	0	0	0	1
LOC130064357, RYR1	0	0	0	0	1	0	0	1
LOC130065309, NOP56	0	0	0	1	0	0	0	1
LOC130065433, NDUFAF5	0	0	1	0	0	0	0	1
LOC130068281, SYP	0	0	1	0	0	0	0	1
LOC130068746, SLC9A6	0	0	0	0	1	0	0	1
LOC130068747, SLC9A6	0	0	1	0	0	0	0	1
LPL	0	1	0	0	0	0	0	1
LRMDA	0	0	0	1	0	0	0	1
LRSAM1	1	0	0	0	0	0	0	1
LZTR1	1	0	0	0	0	0	0	1
MAG	0	1	0	0	0	0	0	1
MAP2K2	0	0	0	1	0	0	0	1
MCOLN1	0	1	0	0	0	0	0	1
MED13L	0	0	0	0	1	0	0	1
MID2	0	0	1	0	0	0	0	1
MMAA	1	0	0	0	0	0	0	1
MMAB, MVK	0	0	0	1	0	0	0	1
MMACHC	0	1	0	0	0	0	0	1
MMADHC	1	0	0	0	0	0	0	1
MPZ	0	0	0	1	0	0	0	1
MRPL36, NDUFS6	0	0	1	0	0	0	0	1
MTPAP	0	0	0	1	0	0	0	1
MTRFR	0	0	0	1	0	0	0	1
MYF6	0	0	0	1	0	0	0	1
MYO5B	0	0	0	0	1	0	0	1
MYO7A	0	1	0	0	0	0	0	1
NAGA	1	0	0	0	0	0	0	1
NDUFA9	0	0	0	1	0	0	0	1
NDUFAF5	0	0	0	1	0	0	0	1
NDUFAF6	0	0	1	0	0	0	0	1
NDUFS7	0	0	0	1	0	0	0	1
NEDD4L	0	0	0	1	0	0	0	1
NEK8	0	0	1	0	0	0	0	1
NLRC4	0	0	0	0	1	0	0	1
NONO	0	0	0	1	0	0	0	1
NOTCH3	0	0	1	0	0	0	0	1
NPHP3-ACAD11, UBA5	1	0	0	0	0	0	0	1
NR2F1	0	0	0	1	0	0	0	1
NR2F2	0	1	0	0	0	0	0	1
NRAS	0	0	1	0	0	0	0	1
NSD2	0	0	1	0	0	0	0	1
OPA1	0	0	1	0	0	0	0	1
OPA3	0	0	0	1	0	0	0	1
OTUD4	0	0	1	0	0	0	0	1
PDGFRB	0	0	1	0	0	0	0	1
PDHB	0	0	0	1	0	0	0	1
PDZD7	0	1	0	0	0	0	0	1
PEX12	0	1	0	0	0	0	0	1
PEX16	0	1	0	0	0	0	0	1
PEX2	0	0	0	1	0	0	0	1
PEX6	0	0	1	0	0	0	0	1
PFN1	0	0	1	0	0	0	0	1
PI4KA	0	0	1	0	0	0	0	1
PIGA	0	0	1	0	0	0	0	1
PIGG	1	0	0	0	0	0	0	1
PMP22	0	0	1	0	0	0	0	1
PNP	0	1	0	0	0	0	0	1
POGZ	0	1	0	0	0	0	0	1
PPP1R3A	0	0	1	0	0	0	0	1
PROP1	0	0	1	0	0	0	0	1
PRPH2	0	1	0	0	0	0	0	1
PRSS37	0	0	0	1	0	0	0	1
PSAT1	0	1	0	0	0	0	0	1
PSMD12	0	0	0	1	0	0	0	1
PTH	0	1	0	0	0	0	0	1
PTS	0	1	0	0	0	0	0	1
PYGM	0	0	0	1	0	0	0	1
RAC1	1	0	0	0	0	0	0	1
RAD50, TH2LCRR	0	0	0	0	1	0	0	1
RARS2, SLC35A1	0	0	0	1	0	0	0	1
RBM10	1	0	0	0	0	0	0	1
REEP1	0	0	0	1	0	0	0	1
RERE	0	0	0	1	0	0	0	1
RFT1	1	0	0	0	0	0	0	1
RIT1	0	0	0	0	1	0	0	1
RLIM	0	0	1	0	0	0	0	1
RNASEH1	0	0	1	0	0	0	0	1
RNASET2	0	1	0	0	0	0	0	1
RNF170	0	1	0	0	0	0	0	1
ROGDI	0	0	0	1	0	0	0	1
RP1L1	0	1	0	0	0	0	0	1
RPL27	0	0	1	0	0	0	0	1
RPL31	0	0	0	1	0	0	0	1
RPL35	0	0	1	0	0	0	0	1
RPS17	0	1	0	0	0	0	0	1
RPS27	0	0	0	0	1	0	0	1
RRM2B	1	0	0	0	0	0	0	1
RSPO1	0	0	0	0	1	0	0	1
RTN2	0	0	0	1	0	0	0	1
RTN4IP1	0	0	1	0	0	0	0	1
RUVBL1, SEC61A1	0	0	0	0	1	0	0	1
RYR2	1	0	0	0	0	0	0	1
SACS, SGCG	0	0	0	0	1	0	0	1
SALL4	0	0	1	0	0	0	0	1
SATB2	0	0	0	0	1	0	0	1
SCARB2	0	0	0	1	0	0	0	1
SCN11A	0	0	1	0	0	0	0	1
SCN5A	0	0	1	0	0	0	0	1
SEC63	1	0	0	0	0	0	0	1
SERPING1	1	0	0	0	0	0	0	1
SHH	0	0	1	0	0	0	0	1
SHOC2	1	0	0	0	0	0	0	1
SLA, TG	0	0	1	0	0	0	0	1
SLC12A1	0	0	0	1	0	0	0	1
SLC1A1	0	0	1	0	0	0	0	1
SLC1A2	0	0	0	0	1	0	0	1
SLC24A5	0	0	1	0	0	0	0	1
SLC26A2	0	1	0	0	0	0	0	1
SLC33A1	0	0	1	0	0	0	0	1
SLC34A1	0	0	0	1	0	0	0	1
SLC3A1	1	0	0	0	0	0	0	1
SLC4A1	1	0	0	0	0	0	0	1
SLC4A4	0	0	0	1	0	0	0	1
SLC52A2	0	1	0	0	0	0	0	1
SLC6A1	1	0	0	0	0	0	0	1
SMAD6	0	0	0	1	0	0	0	1
SMARCC2	0	0	0	0	1	0	0	1
SMPD1	1	0	0	0	0	0	0	1
SOD1	0	1	0	0	0	0	0	1
SOX3	0	0	0	1	0	0	0	1
SPART	0	0	0	1	0	0	0	1
SPR	1	0	0	0	0	0	0	1
SPRED1	0	0	0	0	1	0	0	1
SQSTM1	0	1	0	0	0	0	0	1
STAC3	0	0	0	0	1	0	0	1
SUCLA2	0	0	0	1	0	0	0	1
SUCLG1	1	0	0	0	0	0	0	1
SURF1	1	0	0	0	0	0	0	1
SUZ12	0	0	0	0	1	0	0	1
SVIL	0	0	0	0	1	0	0	1
TBCD	0	0	1	0	0	0	0	1
TBL1XR1	0	0	0	0	1	0	0	1
TBP	0	0	0	1	0	0	0	1
TERC	0	1	0	0	0	0	0	1
TERF2IP	0	0	1	0	0	0	0	1
TGFBR1	0	0	1	0	0	0	0	1
TGFBR2	0	0	0	1	0	0	0	1
TGM1, TINF2	0	0	0	1	0	0	0	1
THAP1	1	0	0	0	0	0	0	1
TIA1	0	0	0	0	1	0	0	1
TIMM50	0	0	1	0	0	0	0	1
TIMMDC1	0	0	1	0	0	0	0	1
TMPRSS3	0	1	0	0	0	0	0	1
TPRKB	0	0	1	0	0	0	0	1
TRAF3IP1	0	0	0	1	0	0	0	1
TRAPPC11	0	0	1	0	0	0	0	1
TRNT1	1	0	0	0	0	0	0	1
TSHB	1	0	0	0	0	0	0	1
TYMP	0	1	0	0	0	0	0	1
UACA	0	0	0	1	0	0	0	1
UBE2A	1	0	0	0	0	0	0	1
UIMC1	0	0	0	1	0	0	0	1
VPS33B	1	0	0	0	0	0	0	1
WDR26	0	0	1	0	0	0	0	1
WNK4	0	0	1	0	0	0	0	1
WNT4	0	0	1	0	0	0	0	1
XDH	0	0	1	0	0	0	0	1
XPNPEP3	0	0	0	1	0	0	0	1
ZEB1	1	0	0	0	0	0	0	1
ZIC4	0	0	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 504

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	total
not specified	5	9	7997	7822	3880	0	0	19713
not provided	545	484	392	9	0	1	3	1434
Cornelia de Lange syndrome 1	170	46	44	0	2	0	0	262
Sotos syndrome	146	25	27	0	0	0	0	198
Severe X-linked myotubular myopathy	117	16	5	0	0	0	0	138
Microcephaly 5, primary, autosomal recessive	58	2	72	0	0	0	0	132
Lissencephaly due to LIS1 mutation	79	13	3	0	0	0	0	95
Ectopic tissue	71	19	0	0	0	0	0	90
Menkes kinky-hair syndrome	71	14	0	0	0	0	0	85
Kabuki syndrome 1	50	5	28	0	0	0	0	83
Rubinstein-Taybi syndrome due to CREBBP mutations	57	14	10	0	0	0	0	81
Microcephalic osteodysplastic primordial dwarfism type II	17	2	47	0	0	0	0	66
Iron accumulation in brain	21	16	16	0	0	0	0	53
Rett syndrome	48	1	1	0	0	0	0	50
CHARGE association	31	3	10	0	2	0	0	46
Angelman syndrome	31	5	9	0	0	0	0	45
Microcephaly 9, primary, autosomal recessive	6	1	34	0	0	0	0	41
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	5	6	27	0	0	0	0	38
Tyrosinase-negative oculocutaneous albinism	28	9	0	0	0	0	0	37
Microcephaly 1, primary, autosomal recessive	5	3	25	0	0	0	0	33
Chondrodysplasia punctata 2 X-linked dominant	15	15	2	0	0	0	0	32
Developmental and epileptic encephalopathy, 2	21	3	7	0	0	0	0	31
Microcephaly 3, primary, autosomal recessive	6	0	25	0	0	0	0	31
Hyperinsulinemic hypoglycemia, familial, 1	18	8	1	1	0	0	0	28
Lissencephaly due to TUBA1A mutation	7	17	4	0	0	0	0	28
Congenital muscular hypertrophy-cerebral syndrome	9	12	6	0	0	0	0	27
Hearing impairment	25	0	0	0	0	0	0	25
Wilson disease	18	5	2	0	0	0	0	25
Microcephaly, seizures, and developmental delay	4	3	17	0	0	0	0	24
Mowat-Wilson syndrome	18	0	5	1	0	0	0	24
Bilateral frontoparietal polymicrogyria	10	3	10	0	0	0	0	23
Cornelia de Lange syndrome 3	0	7	16	0	0	0	0	23
Developmental and epileptic encephalopathy, 5	2	1	20	0	0	0	0	23
Pitt-Hopkins syndrome	13	8	2	0	0	0	0	23
Syndromic X-linked intellectual disability Najm type	17	2	3	0	0	0	0	22
X-linked lissencephaly with abnormal genitalia	19	3	0	0	0	0	0	22
Rett syndrome, congenital variant	11	7	3	0	0	0	0	21
Muscular dystrophy	13	5	2	0	0	0	0	20
Tyrosinase-positive oculocutaneous albinism	13	7	0	0	0	0	0	20
CHIME syndrome	1	0	18	0	0	0	0	19
Microcephaly 6, primary, autosomal recessive	2	0	17	0	0	0	0	19
Coffin-Siris syndrome 1	15	2	0	0	0	0	0	17
Hyperbilirubinemia	4	1	11	0	0	0	0	16
Maturity-onset diabetes of the young type 2	8	8	0	0	0	0	0	16
Myopathy	9	7	0	0	0	0	0	16
Seckel syndrome 1	1	1	13	0	0	0	0	15
Allan-Herndon-Dudley syndrome	9	4	1	0	0	0	0	14
Microcephaly 7, primary, autosomal recessive	0	1	13	0	0	0	0	14
Centronuclear myopathy	7	2	4	0	0	0	0	13
Developmental and epileptic encephalopathy, 9	2	1	8	1	1	0	0	13
Encephalopathy due to GLUT1 deficiency	7	1	5	0	0	0	0	13
Schinzel-Giedion syndrome	4	1	7	1	0	0	0	13
Meckel-Gruber syndrome	4	5	3	0	0	0	0	12
Seizure	4	7	0	0	0	0	0	11
Abnormal cortical gyration	9	1	0	0	0	0	0	10
Breast-ovarian cancer, familial, susceptibility to, 1	10	0	0	0	0	0	0	10
Complex cortical dysplasia with other brain malformations 7	0	5	5	0	0	0	0	10
Wiedemann-Steiner syndrome	6	3	1	0	0	0	0	10
epileptic encephalopathy, early infanitle, 1	3	0	7	0	0	0	0	10
Autosomal recessive ataxia due to ubiquinone deficiency	4	5	0	0	0	0	0	9
Autosomal recessive ataxia, Beauce type	8	1	0	0	0	0	0	9
Familial partial lipodystrophy, Dunnigan type	7	2	0	0	0	0	0	9
Fanconi anemia complementation group A	6	3	0	0	0	0	0	9
Intellectual disability, autosomal dominant 5	8	1	0	0	0	0	0	9
Joubert syndrome 17	4	1	4	0	0	0	0	9
Olivopontocerebellar hypoplasia	5	1	3	0	0	0	0	9
Seckel syndrome 4	7	2	0	0	0	0	0	9
Complex cortical dysplasia with other brain malformations 1	2	0	6	0	0	0	0	8
Cornelia de Lange syndrome 5	3	2	3	0	0	0	0	8
Developmental and epileptic encephalopathy, 4	4	2	2	0	0	0	0	8
Diabetes mellitus	5	1	2	0	0	0	0	8
Early myoclonic encephalopathy	1	1	6	0	0	0	0	8
Febrile seizures, familial, 4	0	0	8	0	0	0	0	8
Hereditary spastic paraplegia 7	4	4	0	0	0	0	0	8
Hyperinsulinemic hypoglycemia, familial, 2	3	4	1	0	0	0	0	8
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	7	1	0	0	0	0	0	8
Nemaline myopathy 2	6	2	0	0	0	0	0	8
Pontocerebellar hypoplasia type 2B	0	2	6	0	0	0	0	8
Roberts-SC phocomelia syndrome	4	1	3	0	0	0	0	8
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2	0	6	0	0	0	0	8
Alternating hemiplegia of childhood 2	3	3	1	0	0	0	0	7
Breast cancer, susceptibility to	7	0	0	0	0	0	0	7
Child syndrome	4	3	0	0	0	0	0	7
DYRK1A-related intellectual disability syndrome	4	3	0	0	0	0	0	7
Lissencephaly 4	2	0	5	0	0	0	0	7
Microcephaly-capillary malformation syndrome	2	2	3	0	0	0	0	7
PPARG-related familial partial lipodystrophy	2	5	0	0	0	0	0	7
Permanent neonatal diabetes mellitus	4	3	0	0	0	0	0	7
Wolfram syndrome	3	4	0	0	0	0	0	7
Autosomal dominant Robinow syndrome 1	0	1	5	0	0	0	0	6
Christianson syndrome	2	1	3	0	0	0	0	6
Cockayne syndrome type 2	6	0	0	0	0	0	0	6
Coffin Siris/Intellectual Disability	2	0	4	0	0	0	0	6
Cohen syndrome	6	0	0	0	0	0	0	6
Cornelia de Lange syndrome 4	4	0	2	0	0	0	0	6
Dilated cardiomyopathy 1A	3	3	0	0	0	0	0	6
Distal arthrogryposis type 5D	4	2	0	0	0	0	0	6
Dyskeratosis congenita	3	3	0	0	0	0	0	6
Hydrocephalus due to aqueductal stenosis	4	0	2	0	0	0	0	6
Muscular dystrophy-dystroglycanopathy	2	4	0	0	0	0	0	6
Neonatal insulin-dependent diabetes mellitus	5	1	0	0	0	0	0	6
Pseudo-TORCH syndrome 1	3	0	3	0	0	0	0	6
Rhizomelic chondrodysplasia punctata type 1	5	1	0	0	0	0	0	6
Alstrom syndrome	5	0	0	0	0	0	0	5
Autosomal recessive limb-girdle muscular dystrophy type 2A	4	1	0	0	0	0	0	5
Autosomal recessive spinocerebellar ataxia 10	5	0	0	0	0	0	0	5
Baraitser-winter syndrome 2	2	2	1	0	0	0	0	5
Breast cancer, early-onset	2	1	2	0	0	0	0	5
Breast-ovarian cancer, familial, susceptibility to, 2	5	0	0	0	0	0	0	5
DDX41-related hematologic malignancy predisposition syndrome	4	1	0	0	0	0	0	5
Gestational diabetes	2	3	0	0	0	0	0	5
Hereditary spastic paraplegia 47	3	1	1	0	0	0	0	5
Intellectual disability, autosomal dominant 14	4	1	0	0	0	0	0	5
Intellectual disability, autosomal dominant 20	3	0	2	0	0	0	0	5
L-2-hydroxyglutaric aciduria	3	1	1	0	0	0	0	5
Leukemia, acute myeloid, susceptibility to	2	3	0	0	0	0	0	5
Maturity-onset diabetes of the young type 3	3	2	0	0	0	0	0	5
Myopathy, centronuclear, 2	1	0	4	0	0	0	0	5
Neurodegeneration with brain iron accumulation 4	2	3	0	0	0	0	0	5
Neurodegeneration with brain iron accumulation 5	2	3	0	0	0	0	0	5
Nicolaides-Baraitser syndrome	2	3	0	0	0	0	0	5
Niemann-Pick disease, type C1	4	1	0	0	0	0	0	5
Norman-Roberts syndrome	5	0	0	0	0	0	0	5
Weaver syndrome	3	1	1	0	0	0	0	5
Abnormal cardiovascular system morphology	3	1	0	0	0	0	0	4
Acute myeloid leukemia	3	1	0	0	0	0	0	4
Agenesis of the corpus callosum with peripheral neuropathy	2	0	2	0	0	0	0	4
Ataxia-telangiectasia syndrome	4	0	0	0	0	0	0	4
Autosomal recessive Robinow syndrome	0	0	4	0	0	0	0	4
Autosomal recessive nonsyndromic hearing loss 1A	4	0	0	0	0	0	0	4
Baraitser-Winter syndrome 1	2	2	0	0	0	0	0	4
Biotinidase deficiency	4	0	0	0	0	0	0	4
Congenital amegakaryocytic thrombocytopenia	3	1	0	0	0	0	0	4
Congenital myasthenic syndrome 10	3	1	0	0	0	0	0	4
Craniofrontonasal syndrome	2	2	0	0	0	0	0	4
Crigler-Najjar syndrome	2	2	0	0	0	0	0	4
Developmental and epileptic encephalopathy, 11	2	2	0	0	0	0	0	4
Developmental and epileptic encephalopathy, 13	1	3	0	0	0	0	0	4
Episodic ataxia type 2	4	0	0	0	0	0	0	4
H syndrome	4	0	0	0	0	0	0	4
Hyperinsulinism-hyperammonemia syndrome	3	1	0	0	0	0	0	4
Hypobetalipoproteinemia	1	3	0	0	0	0	0	4
Intellectual disability, autosomal dominant 9	1	3	0	0	0	0	0	4
Kabuki syndrome 2	1	2	1	0	0	0	0	4
Li-Fraumeni syndrome	2	2	0	0	0	0	0	4
Mandibulofacial dysostosis-microcephaly syndrome	4	0	0	0	0	0	0	4
Nager syndrome	4	0	0	0	0	0	0	4
Neurodegeneration with brain iron accumulation 2B	1	3	0	0	0	0	0	4
Obesity, autosomal dominant	2	2	0	0	0	0	0	4
Oculocutaneous albinism type 4	3	1	0	0	0	0	0	4
Oculodentodigital dysplasia	2	2	0	0	0	0	0	4
Pontocerebellar hypoplasia type 1B	3	1	0	0	0	0	0	4
Tibial muscular dystrophy	3	1	0	0	0	0	0	4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	2	1	0	0	0	0	0	3
46,XY sex reversal 3	1	2	0	0	0	0	0	3
Adenylosuccinate lyase deficiency	2	1	0	0	0	0	0	3
Autosomal recessive spinocerebellar ataxia 16	1	2	0	0	0	0	0	3
Bardet-Biedl syndrome 10	3	0	0	0	0	0	0	3
Charlevoix-Saguenay spastic ataxia	3	0	0	0	0	0	0	3
Congenital generalized lipodystrophy type 2	3	0	0	0	0	0	0	3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	2	1	0	0	0	0	0	3
Craniosynostosis syndrome	3	0	0	0	0	0	0	3
D-2-hydroxyglutaric aciduria 1	1	0	1	1	0	0	0	3
Developmental and epileptic encephalopathy, 7	1	2	0	0	0	0	0	3
Distal arthrogryposis type 2B1	2	1	0	0	0	0	0	3
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome	2	0	1	0	0	0	0	3
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	1	2	0	0	0	0	0	3
Intellectual disability, autosomal dominant 13	0	3	0	0	0	0	0	3
Intellectual disability, autosomal dominant 16	0	3	0	0	0	0	0	3
Intellectual disability, autosomal recessive 13	3	0	0	0	0	0	0	3
Intellectual disability-severe speech delay-mild dysmorphism syndrome	3	0	0	0	0	0	0	3
Joubert syndrome 21	2	1	0	0	0	0	0	3
Joubert syndrome 9	3	0	0	0	0	0	0	3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	2	1	0	0	0	0	0	3
Marshall-Smith syndrome	3	0	0	0	0	0	0	3
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1	2	1	0	0	0	0	0	3
Meckel syndrome, type 4	3	0	0	0	0	0	0	3
Meier-Gorlin syndrome 2	1	1	1	0	0	0	0	3
Meier-Gorlin syndrome 3	2	1	0	0	0	0	0	3
Metachromatic leukodystrophy	3	0	0	0	0	0	0	3
Microcephaly, normal intelligence and immunodeficiency	3	0	0	0	0	0	0	3
Nemaline myopathy 3, autosomal dominant or recessive	2	1	0	0	0	0	0	3
Neuronal ceroid lipofuscinosis 5	2	1	0	0	0	0	0	3
Pettigrew syndrome	2	1	0	0	0	0	0	3
Pontocerebellar hypoplasia type 2A	3	0	0	0	0	0	0	3
Rhabdoid tumor predisposition syndrome 2	3	0	0	0	0	0	0	3
Seizures, benign familial infantile, 3	3	0	0	0	0	0	0	3
Senior-Loken syndrome 7	3	0	0	0	0	0	0	3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	3	0	0	0	0	0	0	3
Treacher Collins syndrome 1	3	0	0	0	0	0	0	3
X-linked intellectual disability-cerebellar hypoplasia syndrome	1	0	2	0	0	0	0	3
Androgen resistance syndrome	1	1	0	0	0	0	0	2
Aortic aneurysm, familial thoracic 4	2	0	0	0	0	0	0	2
Argininosuccinate lyase deficiency	2	0	0	0	0	0	0	2
Arthyrgryposis, distal, type 2B	2	0	0	0	0	0	0	2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	2	0	0	0	0	0	0	2
Autosomal recessive inherited pseudoxanthoma elasticum	1	0	1	0	0	0	0	2
Autosomal recessive limb-girdle muscular dystrophy type 2D	1	1	0	0	0	0	0	2
Autosomal recessive limb-girdle muscular dystrophy type 2N	0	2	0	0	0	0	0	2
Bardet-Biedl syndrome 1	2	0	0	0	0	0	0	2
Bardet-Biedl syndrome 12	1	1	0	0	0	0	0	2
Brachydactyly, type B1Robinow syndrome, autosomal recessive	0	0	2	0	0	0	0	2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	1	1	0	0	0	0	0	2
Citrullinemia type I	0	2	0	0	0	0	0	2
Coats plus syndrome	2	0	0	0	0	0	0	2
Complex cortical dysplasia with other brain malformations 5	2	0	0	0	0	0	0	2
Congenital generalized lipodystrophy type 1	2	0	0	0	0	0	0	2
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	1	1	0	0	0	0	0	2
Congenital myasthenic syndrome 4C	1	1	0	0	0	0	0	2
Congenital myopathy with fiber type disproportion	1	1	0	0	0	0	0	2
Cowden syndrome 1	1	1	0	0	0	0	0	2
D-2-hydroxyglutaric aciduria	1	1	0	0	0	0	0	2
Deficiency of steroid 17-alpha-monooxygenase	1	1	0	0	0	0	0	2
Developmental and epileptic encephalopathy, 17	0	2	0	0	0	0	0	2
Diabetes mellitus type 1	1	1	0	0	0	0	0	2
Diabetes mellitus, transient neonatal, 2	2	0	0	0	0	0	0	2
Dyskeratosis congenita, autosomal dominant 1	0	2	0	0	0	0	0	2
Dyskeratosis congenita, autosomal recessive 6	2	0	0	0	0	0	0	2
Ethylmalonic encephalopathy	0	2	0	0	0	0	0	2
Familial infantile myasthenia	0	2	0	0	0	0	0	2
Familial infantile myoclonic epilepsy	0	2	0	0	0	0	0	2
Familial meningioma	1	1	0	0	0	0	0	2
Floating-Harbor syndrome	2	0	0	0	0	0	0	2
Fluorouracil response	1	0	0	0	0	0	1	2
Fraser syndrome 1	2	0	0	0	0	0	0	2
GLUT1 deficiency syndrome	1	1	0	0	0	0	0	2
Generalized epilepsy with febrile seizures plus, type 1	1	1	0	0	0	0	0	2
Generalized epilepsy with febrile seizures plus, type 2	2	0	0	0	0	0	0	2
Glycogen storage disease, type II	2	0	0	0	0	0	0	2
Goldberg-Shprintzen syndrome	0	0	2	0	0	0	0	2
Gray platelet syndrome	2	0	0	0	0	0	0	2
Griscelli syndrome type 2	2	0	0	0	0	0	0	2
Hemochromatosis type 1	2	0	0	0	0	0	0	2
Hermansky-Pudlak syndrome 1	2	0	0	0	0	0	0	2
Hermansky-Pudlak syndrome 6	1	1	0	0	0	0	0	2
Hutchinson-Gilford syndrome	2	0	0	0	0	0	0	2
Hyperinsulinemia	1	1	0	0	0	0	0	2
Hyperinsulinism due to HNF4A deficiency	0	2	0	0	0	0	0	2
Hyperinsulinism due to glucokinase deficiency	2	0	0	0	0	0	0	2
Hypogonadotropic hypogonadism 2 with or without anosmia	1	1	0	0	0	0	0	2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	0	2	0	0	0	0	0	2
Hypothyroidism due to TSH receptor mutations	0	2	0	0	0	0	0	2
Intellectual disability, X-linked 1	2	0	0	0	0	0	0	2
Intellectual disability, autosomal recessive 42	1	1	0	0	0	0	0	2
Joubert syndrome 13	1	0	1	0	0	0	0	2
Joubert syndrome 3	1	1	0	0	0	0	0	2
Joubert syndrome 6	2	0	0	0	0	0	0	2
KBG syndrome	2	0	0	0	0	0	0	2
Lissencephaly type 1 due to doublecortin gene mutation	2	0	0	0	0	0	0	2
Lynch syndrome 5	2	0	0	0	0	0	0	2
METHYLMALONIC ACIDURIA, mut(0) TYPE	2	0	0	0	0	0	0	2
Malformation of the heart and great vessels	2	0	0	0	0	0	0	2
Maturity-onset diabetes of the young type 1	0	2	0	0	0	0	0	2
Meckel syndrome, type 1	2	0	0	0	0	0	0	2
Meckel syndrome, type 11	2	0	0	0	0	0	0	2
Meckel syndrome, type 6	1	1	0	0	0	0	0	2
Meckel syndrome, type 8	2	0	0	0	0	0	0	2
Microcephaly 4, primary, autosomal recessive	0	2	0	0	0	0	0	2
Microcephaly and chorioretinopathy 3	2	0	0	0	0	0	0	2
Microcephaly and chorioretinopathy with or without intellectual disability	2	0	0	0	0	0	0	2
Neonatal-onset encephalopathy with rigidity and seizures	2	0	0	0	0	0	0	2
Nephronophthisis 1	2	0	0	0	0	0	0	2
Neuronal ceroid lipofuscinosis 13	2	0	0	0	0	0	0	2
Neuronal ceroid lipofuscinosis 2	2	0	0	0	0	0	0	2
Oculocutaneous albinism type 3	1	1	0	0	0	0	0	2
Orofaciodigital syndrome I	1	0	1	0	0	0	0	2
Pontocerebellar hypoplasia type 6	0	2	0	0	0	0	0	2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	2	0	0	0	0	0	0	2
SHORT syndrome	1	1	0	0	0	0	0	2
Sandhoff disease	1	1	0	0	0	0	0	2
Shwachman-Diamond syndrome 1	2	0	0	0	0	0	0	2
Spinocerebellar ataxia type 14	0	2	0	0	0	0	0	2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	1	1	0	0	0	0	0	2
Subcortical laminar heterotopia, X-linked	2	0	0	0	0	0	0	2
Syndromic X-linked intellectual disability Claes-Jensen type	1	1	0	0	0	0	0	2
Testosterone 17-beta-dehydrogenase deficiency	0	2	0	0	0	0	0	2
Thyroid hormone resistance syndrome	2	0	0	0	0	0	0	2
Warburg micro syndrome 1	2	0	0	0	0	0	0	2
Wolcott-Rallison dysplasia	2	0	0	0	0	0	0	2
X-linked chondrodysplasia punctata 1	0	1	1	0	0	0	0	2
X-linked intellectual disability, Cantagrel type	2	0	0	0	0	0	0	2
46,XX sex reversal 1; 46,XY sex reversal 1	1	0	0	0	0	0	0	1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	0	1	0	0	0	0	0	1
ALG6-congenital disorder of glycosylation 1C	1	0	0	0	0	0	0	1
Abetalipoproteinaemia	1	0	0	0	0	0	0	1
Acrodysostosis 2 with or without hormone resistance	1	0	0	0	0	0	0	1
Acute lymphoid leukemia	0	1	0	0	0	0	0	1
Alpha-N-acetylgalactosaminidase deficiency	1	0	0	0	0	0	0	1
Alpha-thalassemia/intellectual disability syndrome	1	0	0	0	0	0	0	1
Amyotrophic lateral sclerosis type 1	0	1	0	0	0	0	0	1
Arthrogryposis, renal dysfunction, and cholestasis 1	1	0	0	0	0	0	0	1
Autism, susceptibility to, X-linked 4	0	1	0	0	0	0	0	1
Autosomal dominant nocturnal frontal lobe epilepsy 3	0	0	1	0	0	0	0	1
Autosomal dominant nocturnal frontal lobe epilepsy 5	1	0	0	0	0	0	0	1
Autosomal dominant sensory ataxia 1	0	1	0	0	0	0	0	1
Autosomal recessive limb-girdle muscular dystrophy type 2B	1	0	0	0	0	0	0	1
Autosomal recessive limb-girdle muscular dystrophy type 2L	0	1	0	0	0	0	0	1
Autosomal recessive nonsyndromic hearing loss 3	1	0	0	0	0	0	0	1
Autosomal recessive nonsyndromic hearing loss 8	0	1	0	0	0	0	0	1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	1	0	0	0	0	0	0	1
BAP1-related tumor predisposition syndrome	1	0	0	0	0	0	0	1
Bardet-Biedl syndrome 14	1	0	0	0	0	0	0	1
Bardet-Biedl syndrome 5	0	1	0	0	0	0	0	1
Beckwith-Wiedemann syndrome	1	0	0	0	0	0	0	1
Bernard-Soulier syndrome, type A1	1	0	0	0	0	0	0	1
Bernard-Soulier syndrome, type B	0	1	0	0	0	0	0	1
Bleeding disorder, platelet-type, 21	0	1	0	0	0	0	0	1
Brain small vessel disease 1 with or without ocular anomalies	0	1	0	0	0	0	0	1
Brain-lung-thyroid syndrome	0	1	0	0	0	0	0	1
Branched-chain keto acid dehydrogenase kinase deficiency	0	1	0	0	0	0	0	1
Breast-ovarian cancer, familial, susceptibility to, 3	1	0	0	0	0	0	0	1
Brown-Vialetto-van Laere syndrome 2	0	1	0	0	0	0	0	1
Brugada syndrome 9	0	1	0	0	0	0	0	1
Cerebellar ataxia	0	1	0	0	0	0	0	1
Cerebral folate transport deficiency	1	0	0	0	0	0	0	1
Ceroid lipofuscinosis, neuronal, 6A	1	0	0	0	0	0	0	1
Cholestanol storage disease	0	1	0	0	0	0	0	1
Chromosome 1p32-p31 deletion syndrome	0	1	0	0	0	0	0	1
Chromosome 2q32-q33 deletion syndrome	0	1	0	0	0	0	0	1
Chédiak-Higashi syndrome	1	0	0	0	0	0	0	1
Cobalamin C disease	0	1	0	0	0	0	0	1
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	1	0	0	0	0	0	0	1
Colorectal cancer, hereditary nonpolyposis, type 2	1	0	0	0	0	0	0	1
Combined oxidative phosphorylation defect type 15	1	0	0	0	0	0	0	1
Complex cortical dysplasia with other brain malformations 3	0	1	0	0	0	0	0	1
Congenital malabsorptive diarrhea 4	1	0	0	0	0	0	0	1
Congenital muscular dystrophy due to integrin alpha-7 deficiency	1	0	0	0	0	0	0	1
Congenital muscular dystrophy due to partial LAMA2 deficiency	0	1	0	0	0	0	0	1
Congenital myasthenic syndrome	1	0	0	0	0	0	0	1
Congenital myopathy 23	1	0	0	0	0	0	0	1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	1	0	0	0	0	0	0	1
Corneal dystrophy	1	0	0	0	0	0	0	1
Creatine transporter deficiency	1	0	0	0	0	0	0	1
Currarino triad	1	0	0	0	0	0	0	1
Cystic fibrosis	1	0	0	0	0	0	0	1
Cystic leukoencephalopathy without megalencephaly	0	1	0	0	0	0	0	1
D-2-hydroxyglutaric aciduria 2	1	0	0	0	0	0	0	1
Deficiency of ferroxidase	0	1	0	0	0	0	0	1
Desmin-related myofibrillar myopathy	0	1	0	0	0	0	0	1
Desmosterolosis	0	1	0	0	0	0	0	1
Developmental and epileptic encephalopathy, 18	0	1	0	0	0	0	0	1
Developmental and epileptic encephalopathy, 27	0	1	0	0	0	0	0	1
Developmental and epileptic encephalopathy, 33	0	1	0	0	0	0	0	1
Diamond-Blackfan anemia 1	0	1	0	0	0	0	0	1
Diamond-Blackfan anemia 10	1	0	0	0	0	0	0	1
Donnai-Barrow syndrome	0	1	0	0	0	0	0	1
Duchenne muscular dystrophy	0	1	0	0	0	0	0	1
Dyskeratosis congenita, X-linked	0	1	0	0	0	0	0	1
Dyskeratosis congenita, autosomal dominant 2	0	1	0	0	0	0	0	1
Dyskeratosis congenita, autosomal dominant 3	1	0	0	0	0	0	0	1
EAST syndrome	0	1	0	0	0	0	0	1
Ehlers-Danlos syndrome, musculocontractural type	0	1	0	0	0	0	0	1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	1	0	0	0	0	0	0	1
Epidermolysis bullosa simplex 1C, localized	1	0	0	0	0	0	0	1
Epilepsy	0	1	0	0	0	0	0	1
Epilepsy, childhood absence, susceptibility to, 5	0	1	0	0	0	0	0	1
Familial hypocalciuric hypercalcemia 3	1	0	0	0	0	0	0	1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness	1	0	0	0	0	0	0	1
Fanconi anemia complementation group D2	1	0	0	0	0	0	0	1
Fanconi anemia complementation group I	1	0	0	0	0	0	0	1
Fanconi anemia complementation group L	1	0	0	0	0	0	0	1
Fanconi anemia complementation group N	1	0	0	0	0	0	0	1
Freeman-Sheldon syndrome	0	1	0	0	0	0	0	1
Galactosylceramide beta-galactosidase deficiency	1	0	0	0	0	0	0	1
Gaucher disease type I	1	0	0	0	0	0	0	1
Gilbert syndrome	0	0	0	0	0	0	1	1
Glucocorticoid deficiency with achalasia	0	1	0	0	0	0	0	1
Glycogen storage disease, type IV	1	0	0	0	0	0	0	1
Greig cephalopolysyndactyly syndrome	1	0	0	0	0	0	0	1
Hb SS disease	1	0	0	0	0	0	0	1
Hereditary spastic paraplegia 18	0	1	0	0	0	0	0	1
Hereditary spastic paraplegia 50	0	1	0	0	0	0	0	1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	1	0	0	0	0	0	0	1
Hermansky-Pudlak syndrome 5	1	0	0	0	0	0	0	1
Hermansky-Pudlak syndrome 7	1	0	0	0	0	0	0	1
Holoprosencephaly 5	1	0	0	0	0	0	0	1
Hydranencephaly with abnormal genitalia	1	0	0	0	0	0	0	1
Hydrocephalus, nonsyndromic, autosomal recessive 2	1	0	0	0	0	0	0	1
Hyperimmunoglobulin D with periodic fever	1	0	0	0	0	0	0	1
Hyperinsulinism due to INSR deficiency	1	0	0	0	0	0	0	1
Hypogonadotropic hypogonadism 1 with or without anosmia	1	0	0	0	0	0	0	1
Hypogonadotropic hypogonadism 4 with or without anosmia	1	0	0	0	0	0	0	1
Hypogonadotropic hypogonadism 6 with or without anosmia	0	1	0	0	0	0	0	1
Hypomyelinating leukodystrophy 10	0	1	0	0	0	0	0	1
Hypomyelinating leukodystrophy 2	0	1	0	0	0	0	0	1
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	0	1	0	0	0	0	0	1
Hypothyroidism, congenital, nongoitrous, 2	0	1	0	0	0	0	0	1
Immunodeficiency, common variable, 2	0	1	0	0	0	0	0	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	0	1	0	0	0	0	0	1
Intellectual disability, X-linked 19	1	0	0	0	0	0	0	1
Intellectual disability, X-linked 72	1	0	0	0	0	0	0	1
Intellectual disability, autosomal dominant 15	0	1	0	0	0	0	0	1
Intellectual disability, autosomal dominant 8	0	1	0	0	0	0	0	1
Intellectual disability, autosomal recessive 27	1	0	0	0	0	0	0	1
Intellectual disability, autosomal recessive 44	1	0	0	0	0	0	0	1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	0	1	0	0	0	0	0	1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	0	1	0	0	0	0	0	1
Iodotyrosyl coupling defect	1	0	0	0	0	0	0	1
Jalili syndrome	1	0	0	0	0	0	0	1
Joubert syndrome 23	0	1	0	0	0	0	0	1
Joubert syndrome 25	0	1	0	0	0	0	0	1
Joubert syndrome 7	0	1	0	0	0	0	0	1
Kleefstra syndrome 1	0	1	0	0	0	0	0	1
Knobloch syndrome	1	0	0	0	0	0	0	1
LIPE-related familial partial lipodystrophy	0	1	0	0	0	0	0	1
Leigh syndrome due to mitochondrial complex IV deficiency; Charcot-Marie-Tooth disease type 4K	1	0	0	0	0	0	0	1
Leprechaunism syndrome	1	0	0	0	0	0	0	1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	1	0	0	0	0	0	0	1
Li-Fraumeni syndrome 1	0	0	1	0	0	0	0	1
Lipodystrophy	0	1	0	0	0	0	0	1
Long QT syndrome 1	1	0	0	0	0	0	0	1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	1	0	0	0	0	0	0	1
Lynch syndrome 4	1	0	0	0	0	0	0	1
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	1	0	0	0	0	0	0	1
Macrocephaly-autism syndrome	1	0	0	0	0	0	0	1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	1	0	0	0	0	0	0	1
Maple syrup urine disease type 1A	1	0	0	0	0	0	0	1
Maple syrup urine disease type 1B	0	1	0	0	0	0	0	1
Maple syrup urine disease type 2	1	0	0	0	0	0	0	1
Meckel syndrome, type 9	0	1	0	0	0	0	0	1
Meier-Gorlin syndrome 4	1	0	0	0	0	0	0	1
Microcephalic primordial dwarfism due to ZNF335 deficiency	0	1	0	0	0	0	0	1
Microcephalic primordial dwarfism, Alazami type	1	0	0	0	0	0	0	1
Mitochondrial DNA depletion syndrome 1	0	1	0	0	0	0	0	1
Mitochondrial DNA depletion syndrome 9	1	0	0	0	0	0	0	1
Mitochondrial complex I deficiency	0	1	0	0	0	0	0	1
Mitochondrial complex III deficiency nuclear type 2	1	0	0	0	0	0	0	1
Mosaic variegated aneuploidy syndrome 1	1	0	0	0	0	0	0	1
Multiple endocrine neoplasia, type 1	1	0	0	0	0	0	0	1
Multiple endocrine neoplasia, type 2a	1	0	0	0	0	0	0	1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	1	0	0	0	0	0	0	1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	1	0	0	0	0	0	0	1
Myoclonic dystonia 11	1	0	0	0	0	0	0	1
Myoclonic epilepsy, juvenile, susceptibility to, 1	1	0	0	0	0	0	0	1
Neuroferritinopathy	0	0	1	0	0	0	0	1
Neurofibromatosis, type 1	1	0	0	0	0	0	0	1
Neuronal ceroid lipofuscinosis	1	0	0	0	0	0	0	1
Neuronal ceroid lipofuscinosis 1	1	0	0	0	0	0	0	1
Neuronal ceroid lipofuscinosis 8	0	1	0	0	0	0	0	1
Neutral 1 amino acid transport defect	1	0	0	0	0	0	0	1
Niemann-Pick disease, type A	1	0	0	0	0	0	0	1
Nijmegen breakage syndrome-like disorder	1	0	0	0	0	0	0	1
Noonan syndrome	0	0	1	0	0	0	0	1
Noonan syndrome-like disorder with loose anagen hair 1	1	0	0	0	0	0	0	1
Obesity due to pro-opiomelanocortin deficiency	1	0	0	0	0	0	0	1
Oculocutaneous albinism type 6	1	0	0	0	0	0	0	1
PMM2-congenital disorder of glycosylation	1	0	0	0	0	0	0	1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	1	0	0	0	0	0	0	1
Paragangliomas 4	0	1	0	0	0	0	0	1
Peripheral neuropathy	0	0	1	0	0	0	0	1
Periventricular heterotopia with microcephaly, autosomal recessive	1	0	0	0	0	0	0	1
Peroxisome biogenesis disorder	1	0	0	0	0	0	0	1
Persistent truncus arteriosus	0	0	0	0	1	0	0	1
Pfeiffer syndrome	1	0	0	0	0	0	0	1
Phelan-McDermid syndrome	1	0	0	0	0	0	0	1
Phenylketonuria	0	1	0	0	0	0	0	1
Pheochromocytoma	1	0	0	0	0	0	0	1
Pituitary hypothyroidism	1	0	0	0	0	0	0	1
Polymicrogyria with optic nerve hypoplasia	0	0	1	0	0	0	0	1
Pontocerebellar hypoplasia type 2C	0	0	1	0	0	0	0	1
Pontocerebellar hypoplasia type 8	1	0	0	0	0	0	0	1
Progressive myoclonic epilepsy type 6	1	0	0	0	0	0	0	1
Pulmonary hypertension, primary, 3	1	0	0	0	0	0	0	1
Pyruvate carboxylase deficiency	1	0	0	0	0	0	0	1
Pyruvate dehydrogenase E2 deficiency	0	1	0	0	0	0	0	1
Rafiq syndrome	0	1	0	0	0	0	0	1
Rothmund-Thomson syndrome	1	0	0	0	0	0	0	1
Schizophrenia	0	1	0	0	0	0	0	1
Schuurs-Hoeijmakers syndrome	1	0	0	0	0	0	0	1
Seckel syndrome 2	1	0	0	0	0	0	0	1
Seckel syndrome 6	1	0	0	0	0	0	0	1
Seckel syndrome 7	1	0	0	0	0	0	0	1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	1	0	0	0	0	0	0	1
Severe intellectual disability-progressive spastic diplegia syndrome	1	0	0	0	0	0	0	1
Short-rib thoracic dysplasia 8 with or without polydactyly	0	1	0	0	0	0	0	1
Shprintzen-Goldberg syndrome	0	1	0	0	0	0	0	1
Sialidosis	1	0	0	0	0	0	0	1
Simpson-Golabi-Behmel syndrome type 1	1	0	0	0	0	0	0	1
Smith-Lemli-Opitz syndrome	1	0	0	0	0	0	0	1
Spinal muscular atrophy, lower extremity-predominant, 2, AD	0	1	0	0	0	0	0	1
Spinocerebellar ataxia type 13	1	0	0	0	0	0	0	1
Spinocerebellar ataxia type 19/22	1	0	0	0	0	0	0	1
Spinocerebellar ataxia type 21	0	1	0	0	0	0	0	1
Spinocerebellar ataxia type 34	0	1	0	0	0	0	0	1
Spinocerebellar ataxia type 42	1	0	0	0	0	0	0	1
Succinate-semialdehyde dehydrogenase deficiency	1	0	0	0	0	0	0	1
Syndromic X-linked intellectual disability Nascimento type	1	0	0	0	0	0	0	1
TARP syndrome	1	0	0	0	0	0	0	1
TCF12-related craniosynostosis	1	0	0	0	0	0	0	1
Tay-Sachs disease	1	0	0	0	0	0	0	1
Telangiectasia, hereditary hemorrhagic, type 1	1	0	0	0	0	0	0	1
Thrombocytopenia 2	0	1	0	0	0	0	0	1
Thrombocytopenia 5	1	0	0	0	0	0	0	1
Type 1 diabetes mellitus 2	1	0	0	0	0	0	0	1
Unverricht-Lundborg syndrome	1	0	0	0	0	0	0	1
Upshaw-Schulman syndrome	0	0	0	1	0	0	0	1
Usher syndrome type 3	1	0	0	0	0	0	0	1
Very long chain acyl-CoA dehydrogenase deficiency	1	0	0	0	0	0	0	1
Vici syndrome	1	0	0	0	0	0	0	1
Von Hippel-Lindau syndrome	0	1	0	0	0	0	0	1
Warburg micro syndrome 2	1	0	0	0	0	0	0	1
Woodhouse-Sakati syndrome	1	0	0	0	0	0	0	1
Xeroderma pigmentosum, type F/Cockayne syndrome	0	1	0	0	0	0	0	1
beta Thalassemia	1	0	0	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.