ClinVar Miner

Variants from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 total
214 69 670 3890 559 5402

Gene and significance breakdown #

Total genes and gene combinations: 1476
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 1 2 51 317 25 396
BRCA2 12 0 6 43 33 94
PKD1 2 2 5 65 17 91
ATM 4 2 8 34 18 66
WFS1 1 2 9 48 2 62
PLEC 0 0 7 42 2 51
NEB 0 1 6 42 1 50
RYR1 0 0 6 36 4 46
FGFR3 3 0 5 27 7 42
ACAN 2 1 9 23 5 40
BRCA1 10 0 0 8 22 40
FLNC 0 0 4 33 2 39
PCNT 0 0 0 36 1 37
DMD 0 0 4 15 17 36
COL6A3 1 0 5 28 1 35
FBN2 0 0 4 29 2 35
ALMS1 0 0 1 33 0 34
APC 3 0 2 16 12 33
NOTCH3 2 2 2 23 2 31
PKHD1 2 0 1 18 8 29
SYNE1 0 0 4 25 0 29
PALB2 0 1 4 19 4 28
GNAS 0 0 3 22 2 27
DYSF 0 1 1 22 2 26
MSH6 5 0 1 10 9 25
MSH2 4 0 2 2 16 24
PMS2 4 0 0 6 14 24
COL4A1 0 0 2 20 1 23
FLG 0 0 0 23 0 23
FRAS1 0 0 5 18 0 23
LAMA2 0 0 3 20 0 23
LMNA 2 1 5 12 2 22
CHEK2 2 3 9 7 0 21
HSPG2 0 0 2 19 0 21
PIEZO1 0 0 2 13 6 21
LRP2 0 0 4 16 0 20
MLH1 0 0 4 2 14 20
ATM, C11orf65 2 0 3 11 3 19
CACNA1A 0 0 0 14 5 19
COL6A1 0 0 0 18 1 19
DOCK6 1 0 4 14 0 19
MYH7 0 1 1 17 0 19
COL2A1 0 0 3 11 4 18
COL4A2 0 1 2 12 3 18
MAGEL2 1 0 4 12 0 17
RECQL4 1 0 2 14 0 17
TSC2 0 0 0 15 2 17
CACNA1H 0 0 1 15 0 16
CSF1R 0 0 0 14 2 16
LYST 0 0 1 11 4 16
NOTCH1 0 0 5 7 4 16
COL6A2 0 0 0 14 1 15
FLNA 0 0 0 13 2 15
HSALR1, PIEZO1 0 0 0 9 6 15
NOTCH2 0 0 2 13 0 15
AXIN2 0 0 0 10 4 14
CCDST, FLG 0 0 0 14 0 14
DSPP 0 0 1 12 1 14
GATA4 0 0 0 13 1 14
INSR 0 0 0 13 1 14
DCHS1 0 0 1 12 0 13
FANCD2, LOC107303338 0 0 0 12 1 13
FBN1 0 0 4 6 3 13
IGF1R 0 0 1 8 4 13
LDB3 0 0 2 11 0 13
DNAH5 1 0 3 8 0 12
DYNC2H1 1 0 5 5 1 12
MUTYH 7 0 0 2 3 12
PAPSS2 0 1 1 10 0 12
PTCH1 0 0 0 9 3 12
PTPN11 8 1 0 3 0 12
SPINK5 0 0 2 10 0 12
TCOF1 0 0 1 11 0 12
VPS13B 0 1 4 7 0 12
CEP290 0 0 2 8 1 11
DNMT1 0 0 1 10 0 11
KDM6B 0 0 0 11 0 11
NSD1 0 0 0 9 2 11
PDGFRB 0 0 0 8 3 11
POLE 0 0 0 7 4 11
ABCC9 1 0 1 7 1 10
ARID1B 0 0 1 9 0 10
ATR 0 0 1 9 0 10
CPLANE1 0 0 2 8 0 10
KMT2D 0 0 2 7 1 10
PAX6 0 0 0 10 0 10
RTEL1, RTEL1-TNFRSF6B 0 0 0 3 7 10
ABCC6 1 0 1 7 0 9
ATRX 0 0 1 6 2 9
CEL 0 0 0 5 4 9
CHD7 1 0 1 7 0 9
COL18A1, SLC19A1 0 0 2 7 0 9
COL9A3 0 0 0 9 0 9
EVC 0 0 0 8 1 9
IGSF1 0 0 0 9 0 9
KIF7 0 0 2 7 0 9
LOC101927055, TTN 0 0 1 8 0 9
LRP5 0 0 2 6 1 9
MLH3 0 0 0 5 4 9
NF1 1 0 0 5 3 9
NPHP4 0 0 1 7 1 9
POLD1 0 0 0 2 7 9
RAI1 0 0 1 8 0 9
SHANK3 1 0 0 6 2 9
SMARCA4 0 0 0 6 3 9
SYNE2 0 0 0 9 0 9
ABCD1 0 0 1 7 0 8
ANO5 3 0 1 4 0 8
CACNA1S 0 0 1 6 1 8
CBS 0 0 1 5 2 8
CDH23 0 0 2 6 0 8
CEP152 0 0 1 7 0 8
CREBBP 0 0 0 8 0 8
DES 1 0 0 7 0 8
EP300 0 0 0 8 0 8
FAT4 0 0 1 7 0 8
FKTN 0 0 0 8 0 8
FLNB 0 0 3 4 1 8
GAA 1 0 1 6 0 8
GLI2 0 0 2 6 0 8
GLI3 0 0 0 8 0 8
GLIS3 0 0 0 7 1 8
KMT2A 0 0 0 5 3 8
LOC126806430, TTN 0 0 1 7 0 8
MYH9 0 0 0 6 2 8
NEB, RIF1 0 1 1 6 0 8
SCN1A 1 0 0 3 4 8
TERT 0 0 1 2 5 8
TTC21B 1 0 1 6 0 8
ABCC8 1 0 1 5 0 7
ADAMTS10 0 0 0 7 0 7
ATP1A3 0 0 0 5 2 7
BRCA1, LOC126862571 2 0 1 1 3 7
CAPN3 2 1 0 2 2 7
CCDC40 0 0 1 5 1 7
CLCN2 0 0 0 6 1 7
COL11A1 0 0 0 7 0 7
COL11A2 0 0 2 5 0 7
COL1A1 0 0 1 6 0 7
CYP27A1 0 0 2 4 1 7
DICER1 0 0 1 1 5 7
EPG5 0 0 2 2 3 7
GBE1 1 0 1 3 2 7
GRM1 0 0 0 7 0 7
HNF4A 1 0 1 5 0 7
IHH 1 0 1 5 0 7
MEGF8 0 0 2 5 0 7
MTOR 0 0 0 5 2 7
MYH6 0 0 4 2 1 7
PKD2 4 1 1 1 0 7
PLOD1 0 0 2 5 0 7
POLG, POLGARF 2 0 1 4 0 7
PSPH 0 0 0 7 0 7
PTEN 0 1 0 5 1 7
RANBP2 0 0 0 7 0 7
RELN 0 0 1 6 0 7
SALL1 0 0 0 7 0 7
SHROOM4 0 0 0 6 1 7
SLX4 0 0 0 6 1 7
SOS1 1 1 0 5 0 7
SRCAP 0 0 0 7 0 7
TREM2 0 0 1 6 0 7
ZFYVE26 0 0 0 7 0 7
ADAMTS17 0 0 2 4 0 6
AMER1 0 0 0 6 0 6
ANKRD11 0 2 0 4 0 6
ASXL1 0 0 0 6 0 6
ATP7A 0 0 0 6 0 6
CAV3, OXTR 0 0 0 5 1 6
CC2D2A 0 0 1 4 1 6
CENPJ 0 1 1 4 0 6
COL9A2 0 0 0 6 0 6
CTC1 0 0 0 4 2 6
DSP 1 0 0 5 0 6
FANCM 0 0 0 1 5 6
FREM2 0 0 3 3 0 6
GATA6 0 0 1 5 0 6
GFI1 0 0 0 5 1 6
GH-LCR, SCN4A 0 0 0 6 0 6
GHR 1 0 0 4 1 6
GLMN 0 0 0 5 1 6
IFT172 0 0 1 5 0 6
LAMA1 0 0 1 5 0 6
LOC126806425, TTN 0 0 0 4 2 6
LOC126806427, TTN 0 0 0 6 0 6
LOC126806432, TTN 0 0 0 5 1 6
LTBP2 0 0 1 5 0 6
MHRT, MYH7 0 0 1 5 0 6
MMACHC 1 0 3 0 2 6
MPDZ 0 0 1 5 0 6
MYH11, NDE1 0 0 1 5 0 6
MYH3 0 0 0 6 0 6
NHS 0 0 0 6 0 6
OBSL1 0 0 1 5 0 6
POMT1 0 0 0 5 1 6
RPGRIP1L 0 0 0 6 0 6
SDHA 1 0 0 4 1 6
SETD2 0 0 0 5 1 6
SMARCA2 0 0 0 6 0 6
TRIM37 0 0 1 5 0 6
TRPV4 0 1 0 5 0 6
ADGRV1 0 0 1 4 0 5
ARSA 4 0 1 0 0 5
ATP1A2 1 0 1 2 1 5
BARD1 0 0 1 2 2 5
BRIP1 1 0 2 1 1 5
CBL 0 0 0 2 3 5
CCDC88C 0 0 1 4 0 5
CLCN1 0 0 0 1 4 5
COL18A1 0 0 0 5 0 5
COL4A3, MFF-DT 0 1 0 4 0 5
COL9A1 0 0 1 4 0 5
DDX11 0 0 1 4 0 5
DIS3L2 0 0 0 2 3 5
DNAH11 0 0 2 3 0 5
DOCK8 0 0 2 3 0 5
ENG 0 0 0 3 2 5
ERCC2 0 0 3 2 0 5
FKRP 2 0 0 2 1 5
GFAP 0 0 0 5 0 5
GPC3 0 0 1 3 1 5
GSN 0 0 1 4 0 5
HNF1B 1 0 0 4 0 5
KAT6B 0 0 0 4 1 5
KCNJ11 0 0 1 2 2 5
KIT 0 0 0 3 2 5
LOC126806420, TTN 0 0 1 4 0 5
LOC126806422, TTN 0 0 1 3 1 5
LOC126806428, TTN 0 0 1 4 0 5
LOC129935183, TTN 0 0 0 3 2 5
LPIN2 0 0 0 5 0 5
MED12 0 0 1 4 0 5
MED13L 0 0 0 5 0 5
MYH14 0 0 0 5 0 5
MYO7A 0 0 2 3 0 5
PEX1 0 0 2 3 0 5
PHKA1 0 0 3 2 0 5
PIK3CA 0 0 0 3 2 5
PLCG2 0 0 1 4 0 5
PTCH2 0 0 0 2 3 5
RYR2 0 0 1 4 0 5
SEC24D 0 0 1 4 0 5
SGCD 0 0 1 3 1 5
SGSH 2 0 1 2 0 5
STK11 0 0 1 2 2 5
TCTN3 0 1 0 4 0 5
TGFBR2 0 0 2 3 0 5
TP53 0 0 1 4 0 5
TPP1 2 0 0 3 0 5
TYROBP 0 0 0 5 0 5
WDR19 0 0 1 4 0 5
ZNF41 0 0 0 5 0 5
AFF2 0 0 0 4 0 4
AGRN 0 0 1 3 0 4
ALG13 0 0 0 4 0 4
ALPK3 0 0 1 3 0 4
ANKRD26 0 0 0 3 1 4
ASPH 0 0 0 4 0 4
ASPM 0 0 0 4 0 4
BRAF 0 0 1 3 0 4
BRWD3 0 0 1 3 0 4
CACNA1G 0 0 0 4 0 4
CASQ2 0 0 0 4 0 4
CCDC22 0 0 0 4 0 4
CDAN1 0 0 0 3 1 4
CDH1 0 0 0 3 1 4
CDKN1C 0 0 0 4 0 4
COL1A2 0 0 0 4 0 4
COLQ 0 0 1 3 0 4
CRB2 1 0 0 3 0 4
CRPPA 0 0 0 3 1 4
DDC 0 0 1 3 0 4
DKC1 0 0 1 3 0 4
DRD4 0 0 0 4 0 4
DTNBP1 0 0 0 4 0 4
EVC2, LOC126806961 0 0 0 4 0 4
FANCC 1 0 0 3 0 4
FGFR1 0 0 2 2 0 4
FGFR2 2 0 0 2 0 4
FH 0 0 0 2 2 4
FHL1 0 0 0 4 0 4
FKBP10 0 0 1 2 1 4
FRMPD4 0 0 0 4 0 4
FYCO1 0 0 0 4 0 4
GHSR 1 0 2 1 0 4
GLB1 1 0 0 3 0 4
HTRA1 0 0 0 4 0 4
IDS, LOC106050102 0 0 0 4 0 4
IDUA 0 0 1 3 0 4
IFT122 0 0 0 4 0 4
IFT140 0 1 1 2 0 4
ITPR1 0 0 0 4 0 4
KANK1 0 0 0 4 0 4
KIF1B 0 0 0 4 0 4
LDB3, LOC110121486 0 0 0 4 0 4
LOC126806429, TTN 0 0 0 4 0 4
LOC126806431, TTN 0 0 0 4 0 4
MANBA 1 0 2 1 0 4
MPL 0 0 0 4 0 4
MRE11 0 0 1 3 0 4
MYBPC3 2 1 0 1 0 4
MYH11 0 0 2 2 0 4
MYLK 0 0 0 4 0 4
MYOT, PKD2L2-DT 0 0 1 3 0 4
NEK1 0 0 0 4 0 4
NIN 0 0 1 3 0 4
NIPBL 0 0 1 3 0 4
NLRP3 0 0 0 4 0 4
NPC1 0 0 0 3 1 4
PIEZO2 0 0 1 3 0 4
PIK3R2 0 0 0 2 2 4
PKD1L1 0 0 0 4 0 4
PRKDC 0 0 1 3 0 4
RAD51C 0 0 0 4 0 4
RET 0 0 0 3 1 4
SACS 0 0 0 4 0 4
SCN4A 0 0 0 4 0 4
SCN8A 0 1 2 1 0 4
SELENON 0 0 0 4 0 4
SETX 0 0 1 3 0 4
SH3PXD2B 0 0 1 3 0 4
SHROOM3 0 0 0 4 0 4
SOX9 0 0 0 4 0 4
SPG11 0 0 0 4 0 4
STAT5B 0 0 0 4 0 4
SUPT20HL1 0 0 2 2 0 4
SURF1 3 0 1 0 0 4
TBCE 0 0 1 3 0 4
TSC1 0 0 0 0 4 4
TTR 1 1 0 1 1 4
WT1 0 0 0 3 1 4
AARS1 0 0 0 3 0 3
ADGRG4 0 0 0 3 0 3
ADNP, DPM1 0 0 0 3 0 3
AHI1 0 0 1 2 0 3
ALG8 0 1 0 2 0 3
AMT 1 0 1 0 1 3
APP 0 0 0 3 0 3
AR 0 0 0 3 0 3
ARHGAP31 0 0 0 3 0 3
ARMC5 0 0 1 0 2 3
ATP2B3 0 0 0 3 0 3
ATP6V0A2 0 0 0 3 0 3
ATRIP, ATRIP-TREX1, TREX1 0 0 1 2 0 3
B3GLCT 1 0 0 2 0 3
BAP1 0 0 0 3 0 3
BMP1 0 0 0 3 0 3
C2CD3 0 0 0 3 0 3
CACNA1A, LOC108663985 0 0 0 3 0 3
CACNA1F 0 0 3 0 0 3
CASD1, SGCE 0 0 1 2 0 3
CCDC39 0 0 1 2 0 3
CLCN7 0 0 0 3 0 3
COL10A1, NT5DC1 0 0 0 3 0 3
COL12A1 0 0 0 3 0 3
COL3A1 0 0 0 3 0 3
CREB3L1 0 0 0 2 1 3
CTSA 0 0 0 3 0 3
DARS2 1 0 0 2 0 3
DDX59 0 0 0 3 0 3
DHFR, MSH3 0 0 0 3 0 3
DMP1 0 0 0 3 0 3
DNAJB6 0 0 0 3 0 3
DOK7 0 0 0 3 0 3
EBP 0 0 1 2 0 3
ECEL1 0 0 0 3 0 3
ELN 0 0 0 3 0 3
ELP4, PAX6 0 0 0 3 0 3
ERCC4 0 0 0 1 2 3
EVC2 0 0 1 2 0 3
EXT2 0 0 0 3 0 3
FANCA 0 0 0 2 1 3
FANCA, ZNF276 0 0 0 2 1 3
FANCI 0 0 0 3 0 3
FGD1 0 0 1 2 0 3
FGF12 1 0 0 2 0 3
GALC 0 0 0 3 0 3
GBA1, LOC106627981 0 0 3 0 0 3
GHRHR 0 0 1 2 0 3
GJA8 1 0 0 2 0 3
GLDC 0 1 0 2 0 3
GMPPB 0 0 0 3 0 3
GNPTAB 1 0 0 2 0 3
HCFC1 0 0 0 3 0 3
HDAC4 0 0 0 2 1 3
HDAC6 0 0 1 2 0 3
HERC1 0 0 0 3 0 3
HESX1 0 0 0 3 0 3
HGSNAT 0 0 0 3 0 3
HLCS 0 0 0 3 0 3
HNF1A 1 0 0 0 2 3
HOXB13 0 1 2 0 0 3
HUWE1 0 0 1 2 0 3
HYDIN 0 0 2 1 0 3
ITGA7 0 0 0 3 0 3
KCNH1 0 0 0 3 0 3
KDM6A 0 0 0 2 1 3
KIF1A 0 0 0 3 0 3
KNL1 0 0 0 3 0 3
KRT18, KRT8, LOC106096416 0 0 0 3 0 3
LAMC3 0 0 0 3 0 3
LFNG 0 0 0 3 0 3
LMNB1 0 0 1 2 0 3
LOC102724058, SCN1A 0 0 1 2 0 3
LOC106029240, VCX3A 0 0 0 3 0 3
LOC126806423, TTN 0 0 0 3 0 3
LOC126859690, PKHD1 0 0 0 2 1 3
LZTR1 1 1 1 0 0 3
MAMLD1 0 0 0 3 0 3
MAN2B1 0 0 0 3 0 3
MASP1 0 0 1 2 0 3
MC1R 0 0 1 2 0 3
MID1 0 0 0 3 0 3
MTMR8 0 0 0 3 0 3
MVP-DT, PRRT2 1 0 0 2 0 3
MYPN 0 0 1 1 1 3
NBAS 0 0 2 1 0 3
NBN 0 1 0 2 0 3
NKX3-2 0 0 0 3 0 3
OBSCN 0 0 1 2 0 3
OCRL 0 0 0 3 0 3
OPHN1 0 0 0 3 0 3
PHF8 0 0 0 3 0 3
PIGO 0 0 3 0 0 3
PSMB8 0 0 1 2 0 3
RAD21 0 0 0 3 0 3
RAD51D, RAD51L3-RFFL 0 0 2 1 0 3
RTL1 0 0 0 3 0 3
RTL9 0 0 1 2 0 3
RUBCN 0 0 0 3 0 3
SBDS 2 0 0 0 1 3
SETD5 1 2 0 0 0 3
SGCA 2 0 0 0 1 3
SGCG 1 0 0 1 1 3
SHANK2 0 0 3 0 0 3
SKI 0 0 0 3 0 3
SLC26A2 1 1 0 1 0 3
SLC29A3 0 0 1 2 0 3
SMARCAL1 0 0 0 3 0 3
SNHG14, UBE3A 0 0 1 1 1 3
TBX5 0 0 1 2 0 3
TBXAS1 0 0 0 3 0 3
TCIRG1 0 0 1 2 0 3
TGFB2 0 0 0 3 0 3
TGFBR1 0 0 1 2 0 3
TMEM38B 0 0 0 3 0 3
TMEM67 0 0 0 3 0 3
TRIO 0 0 0 3 0 3
TSHZ1 0 0 0 3 0 3
TWIST1 0 0 0 3 0 3
USH2A 0 0 1 2 0 3
WRAP53 0 0 0 3 0 3
XPC 1 0 0 2 0 3
ZNF81 0 0 0 3 0 3
A2ML1 0 0 0 1 1 2
ABCB7 0 0 0 2 0 2
ABL1 0 0 0 0 2 2
ACP5 0 0 0 2 0 2
ACSL4 0 0 0 2 0 2
ACTB 0 0 0 0 2 2
ACTN2 0 0 1 1 0 2
ACTN4 0 0 0 2 0 2
ACTRT1 0 0 2 0 0 2
AGA 0 0 1 1 0 2
AGAP2 0 0 2 0 0 2
AGL 0 0 0 2 0 2
AIRE 0 0 0 2 0 2
AK2 0 0 0 2 0 2
AKAP9 0 0 0 2 0 2
ALG12 0 0 0 2 0 2
AP3B1 0 0 0 2 0 2
AP5Z1 0 0 1 1 0 2
AR, LOC109504725 0 0 0 2 0 2
ARHGEF6 0 0 0 2 0 2
ARMS2, HTRA1 0 0 0 2 0 2
ARX 0 0 0 2 0 2
ASXL3 1 0 0 1 0 2
ATP13A2 0 0 0 2 0 2
ATP2A2 0 0 2 0 0 2
ATP6AP2 0 0 1 1 0 2
ATXN1, LOC108663993 0 0 0 2 0 2
AUTS2 0 0 1 1 0 2
BBS2 0 0 0 2 0 2
BCAP31 0 0 0 2 0 2
BCOR 0 0 2 0 0 2
BCORL1 0 0 1 1 0 2
BGN 0 0 0 2 0 2
BLK 0 0 0 1 1 2
BMP2 0 1 0 0 1 2
CACNA1C 1 0 1 0 0 2
CCBE1 0 0 0 2 0 2
CCNQ 0 0 0 2 0 2
CDK16 0 0 0 2 0 2
CDKL5, RS1 0 0 0 1 1 2
CDKN1A 0 0 1 1 0 2
CDT1 0 0 1 1 0 2
CEBPA 0 0 0 0 2 2
CEP41 0 0 2 0 0 2
CEP63 0 0 1 1 0 2
CHD8 0 0 0 2 0 2
CHRDL1 0 0 0 2 0 2
CIITA 0 0 2 0 0 2
CLRN1 0 0 1 1 0 2
CNGB3 2 0 0 0 0 2
CNTNAP2 0 0 1 1 0 2
COL4A6 0 0 1 1 0 2
COL5A1 0 0 1 0 1 2
COMP 0 0 1 1 0 2
COQ8A 1 0 0 1 0 2
CPSF1 0 0 2 0 0 2
CRB1 0 0 1 1 0 2
CXCR4 0 0 0 0 2 2
CXorf38 0 0 1 1 0 2
CYBB 0 0 0 2 0 2
CYP21A2, LOC106780800 2 0 0 0 0 2
DAG1 0 0 0 2 0 2
DEPDC5 0 0 0 2 0 2
DHCR7 2 0 0 0 0 2
DHTKD1 0 0 1 1 0 2
DLAT 0 0 0 2 0 2
DNAAF5 0 0 0 2 0 2
DNAI1 1 0 1 0 0 2
DNAJC13 0 0 0 2 0 2
DNMT3A 0 0 0 2 0 2
DNMT3B 0 0 0 2 0 2
DRP2 0 0 0 2 0 2
DYSF, LOC122787137 0 0 0 2 0 2
EDA 0 0 0 2 0 2
EFHB 0 0 2 0 0 2
EFTUD2 0 1 0 1 0 2
ELANE 0 0 0 1 1 2
ELF4 0 0 0 2 0 2
ERCC6, PGBD3 0 0 0 2 0 2
ERCC6L, PIN4 0 0 1 1 0 2
EXO1 0 0 2 0 0 2
EZH2 0 0 0 2 0 2
FANCB 0 0 0 1 1 2
FANCG, VCP 0 0 0 2 0 2
FBN2, LOC126807501 0 0 0 1 1 2
FLCN 1 0 0 0 1 2
FMR1 0 0 0 2 0 2
FOXE1 0 0 0 2 0 2
FREM1 0 0 1 1 0 2
FRMD7 0 0 2 0 0 2
G6PC3 0 0 0 2 0 2
GABRE 0 0 0 2 0 2
GALNS 0 0 0 1 1 2
GATA2 0 0 0 1 1 2
GCK 1 0 0 1 0 2
GFPT1 0 2 0 0 0 2
GJC2 0 0 0 2 0 2
GLA, RPL36A-HNRNPH2 0 0 1 1 0 2
GNAQ 0 0 0 2 0 2
GPC4 0 0 0 2 0 2
GPR161 0 0 0 2 0 2
GRIN2B 0 1 0 1 0 2
GUCY2F 0 0 1 1 0 2
GUSB 0 0 0 2 0 2
HMCN1 0 0 0 2 0 2
HPS1 0 0 0 2 0 2
HRC, TRPM4 0 0 2 0 0 2
IDUA, SLC26A1 0 0 0 2 0 2
IFIH1 0 1 0 1 0 2
IFT80, TRIM59-IFT80 0 0 1 1 0 2
IGHMBP2 0 0 1 1 0 2
IGLL1 0 0 1 1 0 2
IQSEC2 0 0 1 1 0 2
KARS1 0 0 0 2 0 2
KCNA5 0 0 0 2 0 2
KCNQ1 0 0 0 2 0 2
KCNT1 0 0 0 2 0 2
KDM5C 0 0 0 2 0 2
KIF4A 0 0 0 2 0 2
KIFBP 0 0 1 1 0 2
KMT2C, LOC123956272 0 0 0 2 0 2
KRAS 0 0 0 2 0 2
LARGE1 0 0 1 1 0 2
LINS1 0 0 0 2 0 2
LMNA, LOC126805877 0 0 0 2 0 2
LOC100507346, PTCH1 0 0 0 2 0 2
LOC108281134, SOX3 0 0 0 2 0 2
LOC126806424, TTN 0 0 0 2 0 2
LOC126859837, SYNE1 0 0 2 0 0 2
LOC126861897, MHRT, MYH7 0 0 0 2 0 2
LOC126862264, MEFV 1 0 0 1 0 2
LOC126862902, RYR1 0 0 0 2 0 2
LOC126863188, SHANK3 0 0 0 2 0 2
LOC130001338, PLEC 0 0 0 2 0 2
LOC130001411, RECQL4 0 0 0 2 0 2
LOC130059891, SERPINF1 0 0 0 1 1 2
LOC130065345, PANK2 0 0 1 1 0 2
LRP4 0 0 0 2 0 2
LRPPRC 0 0 1 1 0 2
LSS 0 0 2 0 0 2
LTBP3 0 0 0 2 0 2
MAGEA3, MAGEA6 0 0 0 2 0 2
MAP2K1 0 0 0 2 0 2
MAP3K1 0 0 0 2 0 2
MKKS 0 0 0 2 0 2
MKS1 0 0 0 2 0 2
MXRA5 0 0 0 2 0 2
NAGLU 0 0 1 1 0 2
NAP1L2 0 0 1 1 0 2
NDUFA12 0 0 2 0 0 2
NEUROD1 0 0 0 2 0 2
NLGN4X 0 0 1 1 0 2
NPHP3, NPHP3-ACAD11 0 0 0 2 0 2
NPHS1 0 0 0 2 0 2
NRXN1 0 0 0 2 0 2
NSDHL 0 0 0 2 0 2
NYX 0 0 0 2 0 2
OCA2 2 0 0 0 0 2
ODAD1 0 0 0 2 0 2
OFD1 0 0 0 2 0 2
ORC1 0 0 0 2 0 2
P3H1 0 0 0 2 0 2
PACS1 0 0 0 2 0 2
PAK3 0 0 0 2 0 2
PALLD 0 0 0 0 2 2
PDE4A 0 0 2 0 0 2
PDGFRA 0 0 0 1 1 2
PDSS2 0 0 0 2 0 2
PDX1 0 0 0 2 0 2
PEPD 0 0 1 1 0 2
PEX2 0 1 0 1 0 2
PHEX 0 0 0 2 0 2
PIGA 0 0 2 0 0 2
PIGN 0 0 0 2 0 2
PLEKHH3 0 0 2 0 0 2
PLIN1 0 0 0 2 0 2
PLOD2 0 0 0 2 0 2
PLS3 0 0 0 2 0 2
PLXNA3 0 0 2 0 0 2
PNKP 0 0 0 2 0 2
POF1B 0 0 0 2 0 2
POLR1C 0 0 0 2 0 2
POMGNT1, TSPAN1 0 0 0 2 0 2
POR 0 0 0 2 0 2
POT1 0 0 0 1 1 2
PPT1 1 0 0 1 0 2
PRKAR1A 0 1 0 0 1 2
PRKRA 0 0 0 2 0 2
PROP1 0 0 0 2 0 2
PRSS1, TRB 0 0 0 2 0 2
PTS 0 0 0 2 0 2
PWWP3B 0 0 1 1 0 2
RAF1 0 0 1 1 0 2
RAPSN 1 0 0 1 0 2
RBM20 0 0 0 2 0 2
RHOXF2 0 0 1 1 0 2
RNASEH2A 0 0 1 1 0 2
ROBO3 0 1 1 0 0 2
ROR2 0 0 0 2 0 2
RPS6KA3 0 0 0 2 0 2
RUNX1 0 0 0 1 1 2
SAGE1 0 0 0 2 0 2
SALL4 0 0 1 1 0 2
SCN5A 0 0 0 1 1 2
SDHB 0 0 0 2 0 2
SERPING1 0 0 0 2 0 2
SH3BP2 0 0 1 1 0 2
SLC37A4 0 0 0 1 1 2
SMAD3 0 0 0 2 0 2
SMAD4 1 0 0 1 0 2
SMC3 0 0 0 2 0 2
SMPD1 0 0 0 2 0 2
SOX11 0 0 0 2 0 2
SPTAN1 0 0 1 1 0 2
SRPX2 0 0 0 2 0 2
STAT1 0 0 0 2 0 2
SYN1 0 0 0 2 0 2
SYNGAP1 1 0 0 1 0 2
SZT2 0 0 0 2 0 2
TBC1D7, TBC1D7-LOC100130357 0 0 0 2 0 2
TBX4 0 0 0 2 0 2
TDRD7 0 0 0 2 0 2
TECPR2 0 0 0 2 0 2
TENM4 0 0 1 1 0 2
TFR2 0 0 0 2 0 2
TH 0 0 1 1 0 2
TNFRSF13B 0 0 0 2 0 2
TRDN 0 0 0 2 0 2
TRIP11 0 0 0 2 0 2
USP9X 0 0 0 2 0 2
VCF2 0 0 0 2 0 2
VCX 0 0 1 1 0 2
VSIG4 0 0 1 1 0 2
WAS 0 0 0 0 2 2
WDR13 0 0 1 1 0 2
WDR35 0 0 0 2 0 2
WDR62 0 0 0 2 0 2
WRN 0 0 1 1 0 2
XYLT1 0 0 0 2 0 2
ZBTB20 0 0 0 2 0 2
ZDHHC15 0 0 0 2 0 2
ZEB2 1 0 0 1 0 2
ZFP57 0 0 0 2 0 2
ZFPM2 0 0 0 2 0 2
ZIC3 0 0 0 2 0 2
ZNF674 0 0 0 2 0 2
ZSWIM6 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
AARS2, POLR1C 0 0 0 1 0 1
ABCA2 0 0 1 0 0 1
ABCB6 0 0 0 1 0 1
ABCC3 0 0 0 1 0 1
ABCG8 1 0 0 0 0 1
ACADVL 0 0 0 1 0 1
ACD 0 0 0 1 0 1
ACE 0 0 0 1 0 1
ACE2 0 0 1 0 0 1
ACOT9 0 0 0 1 0 1
ACOX1 0 0 0 1 0 1
ACTG1 0 0 0 1 0 1
ACTN1 0 0 0 1 0 1
ACVR2B 0 0 0 1 0 1
ACVRL1 0 0 0 1 0 1
ADAMTS3 0 0 0 1 0 1
ADAR 0 0 0 1 0 1
ADGRG1 0 0 0 1 0 1
ADNP 0 0 0 1 0 1
AGBL2 0 0 0 1 0 1
AGPAT2 0 0 0 1 0 1
AGPS 0 0 0 1 0 1
AGT 0 0 0 1 0 1
AGTR2 0 0 0 1 0 1
AHCY 0 0 0 1 0 1
AHNAK2 0 0 0 1 0 1
AIFM1, LOC130068679, RAB33A 0 0 0 1 0 1
AK2, LOC129930068 0 0 0 1 0 1
AKAP4 0 0 1 0 0 1
AKT1 0 0 0 0 1 1
AKT3 0 0 0 1 0 1
ALAS2 0 0 0 1 0 1
ALAS2, LOC108663984 0 0 0 0 1 1
ALDH1A3 0 0 0 1 0 1
ALDH3A2 0 0 0 1 0 1
ALDH4A1 0 0 0 1 0 1
ALG1, EEF2KMT 0 0 0 1 0 1
ALG2 0 0 0 1 0 1
ALG6 0 1 0 0 0 1
ALG9 0 0 0 1 0 1
ALMS1, LOC126806252 0 0 1 0 0 1
ALPL 0 0 0 1 0 1
ALX1, LOC124629423 0 0 0 1 0 1
AMOT 0 0 0 1 0 1
ANK3 0 0 1 0 0 1
ANKAR, OSGEPL1 0 0 1 0 0 1
ANKEF1, SNAP25 0 0 1 0 0 1
ANKLE1 0 0 0 1 0 1
ANKRD1 0 0 0 1 0 1
ANKRD11, TRAPPC2L 0 0 0 1 0 1
ANO10 0 0 0 1 0 1
ANO3 0 0 0 0 1 1
ANOS1 0 0 0 1 0 1
AOPEP, FANCC 0 0 0 1 0 1
AP1S3 0 0 0 1 0 1
APC2 0 0 0 1 0 1
AREL1, MLH3 0 0 0 0 1 1
ARFGEF1, CSPP1 0 0 0 1 0 1
ARHGAP4 0 0 0 1 0 1
ARHGAP6 0 0 1 0 0 1
ARID1A, LOC126805670 0 0 0 1 0 1
ARMCX2 0 0 0 1 0 1
ARMCX4 0 0 0 1 0 1
ARMCX5-GPRASP2, GPRASP1 0 0 0 1 0 1
ARNT2 0 0 0 1 0 1
ARR3 0 0 1 0 0 1
ARSH 0 0 1 0 0 1
ARSL 0 0 0 1 0 1
ASB11 0 0 1 0 0 1
ASB18 0 0 1 0 0 1
ASB9 0 0 0 1 0 1
ASPM, LOC129932155 0 0 1 0 0 1
ASTN2, TRIM32 0 0 1 0 0 1
ATAD3A 0 0 1 0 0 1
ATAD3B 0 0 0 1 0 1
ATCAY 0 0 0 1 0 1
ATIC 0 0 0 1 0 1
ATL1 0 0 1 0 0 1
ATP1A2, LOC126805890 0 0 0 1 0 1
ATP6AP1 0 0 0 1 0 1
ATP6V0A2, LOC126861666 0 0 1 0 0 1
ATP6V0A4 0 0 0 0 1 1
ATP6V1H 0 0 1 0 0 1
ATP7B 0 0 1 0 0 1
ATP8B3 0 0 0 1 0 1
AUH 0 0 1 0 0 1
AVPR2 0 0 0 1 0 1
AXIN1 0 0 0 1 0 1
B3GAT3 0 0 0 1 0 1
B3GAT3, ROM1 0 0 0 1 0 1
B4GALT7 0 0 0 1 0 1
BAG3 0 0 0 1 0 1
BBS1, ZDHHC24 0 0 0 1 0 1
BBS4 0 0 1 0 0 1
BBS9 0 0 0 1 0 1
BCOR, LOC126863239 0 0 0 1 0 1
BCR 0 0 1 0 0 1
BICC1 0 0 0 1 0 1
BLK, LOC126860303 0 0 0 0 1 1
BLM 0 0 0 1 0 1
BLTP1 0 0 0 1 0 1
BMPER 0 0 0 1 0 1
BMPR1A 0 0 0 0 1 1
BMPR2 0 0 0 1 0 1
BPNT2 0 0 0 1 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 1 0 1
BUB1B, BUB1B-PAK6 0 0 0 0 1 1
C10orf105, CDH23 0 0 0 1 0 1
C12orf43, HNF1A 0 0 1 0 0 1
C12orf57 0 0 1 0 0 1
C17orf107, CHRNE 0 0 0 1 0 1
C2, CFB 0 0 0 1 0 1
CACNA2D1 0 0 0 1 0 1
CACNB4 0 0 0 1 0 1
CALR3 0 0 0 1 0 1
CAMTA1, LOC126805603 0 0 1 0 0 1
CAPZA1, LOC126805832 0 0 0 1 0 1
CARD14, SGSH 0 0 0 1 0 1
CASK 0 0 0 1 0 1
CASP10 0 0 0 1 0 1
CAV1 0 0 0 1 0 1
CBL, LOC130006895 0 0 0 1 0 1
CCDC120 0 0 0 1 0 1
CCT5 0 0 0 1 0 1
CDCA7L, DNAH11 0 0 0 1 0 1
CDH3 0 0 0 1 0 1
CDK13 1 0 0 0 0 1
CDK4 0 0 1 0 0 1
CDKL5 1 0 0 0 0 1
CDKN2A 0 0 0 0 1 1
CDT1, LOC130059759 0 0 0 1 0 1
CEMIP2 0 0 0 1 0 1
CENPI 0 0 0 1 0 1
CENPJ, RNF17 0 0 1 0 0 1
CEP104, LOC126805586 0 0 0 1 0 1
CEP135 0 0 1 0 0 1
CEP164 0 0 0 1 0 1
CEP83 0 0 1 0 0 1
CERS1, GDF1 0 0 0 1 0 1
CERT1 0 0 0 1 0 1
CFC1 0 0 0 0 1 1
CFH 0 0 0 1 0 1
CFHR5 0 0 0 1 0 1
CFP 0 0 1 0 0 1
CFTR, LOC111674472 0 0 0 1 0 1
CHAT 0 0 0 1 0 1
CHIC1 0 0 0 1 0 1
CHM 0 0 0 1 0 1
CHMP2B, POU1F1 0 0 0 1 0 1
CHRNA4, LOC126863087 0 0 0 1 0 1
CHRND 0 0 0 0 1 1
CHRNG 0 0 0 1 0 1
CHST14 0 0 0 1 0 1
CHST3 0 0 1 0 0 1
CHSY1 0 0 0 0 1 1
CIC 0 0 0 1 0 1
CILK1 0 0 0 0 1 1
CISD2, LOC129992892 0 0 0 1 0 1
CIT 0 0 1 0 0 1
CLCN5 0 1 0 0 0 1
CLDN2, RIPPLY1 0 0 0 1 0 1
CLN3 0 0 0 1 0 1
CLN6 0 0 0 1 0 1
CLPB 0 0 0 1 0 1
CMC4 0 0 0 1 0 1
CNGA1, LOC101927157 1 0 0 0 0 1
CNNM4 0 0 0 1 0 1
CNOT3 0 0 0 1 0 1
CNTNAP4 0 0 1 0 0 1
COG1 0 0 0 1 0 1
COG1, LOC126862634 0 0 0 1 0 1
COG5, DUS4L, DUS4L-BCAP29 0 0 0 1 0 1
COL11A1, LOC126805814 0 0 0 1 0 1
COL17A1 0 0 0 1 0 1
COL25A1 0 0 1 0 0 1
COL4A5 0 0 0 1 0 1
COL6A2, FTCD 0 0 0 1 0 1
COL6A3, LOC126806573 0 0 0 1 0 1
COL9A2, LOC129930261 0 0 0 1 0 1
COL9A3, LOC126863084 0 0 0 1 0 1
COPA 0 0 0 0 1 1
COQ2, LOC112997540 0 0 1 0 0 1
COX15 0 0 1 0 0 1
CPS1 0 0 0 1 0 1
CRELD1 0 0 0 1 0 1
CRIPTO 0 0 0 1 0 1
CRTAP 0 0 0 1 0 1
CRYAB 0 0 0 1 0 1
CRYBA4, CRYBB1 0 0 0 1 0 1
CSAG1 0 0 0 1 0 1
CSF1R, LOC111188154 0 0 1 0 0 1
CSF3R 0 0 0 1 0 1
CTDP1 0 0 1 0 0 1
CTLA4 0 0 0 0 1 1
CTNNA1 0 0 0 0 1 1
CTNNB1 0 0 0 1 0 1
CTU2 0 0 0 1 0 1
CUL4B 0 0 0 1 0 1
CUL4B, LOC113845788 0 0 0 1 0 1
CUL7 0 0 0 1 0 1
CUX2, SH2B3 0 0 1 0 0 1
CWC27 0 0 0 1 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 0 0 1 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
DBNL, LOC129998342, PGAM2 0 0 0 1 0 1
DCAF12L1 0 0 0 1 0 1
DCTN1 0 0 1 0 0 1
DDHD1 0 0 0 1 0 1
DDX3X 1 0 0 0 0 1
DDX51 0 0 0 1 0 1
DDX53, PTCHD1 0 0 0 1 0 1
DEAF1 0 0 0 1 0 1
DGAT1 0 0 0 1 0 1
DHCR7, NADSYN1 0 0 0 1 0 1
DHODH, LOC126862390 0 0 0 1 0 1
DIAPH1 0 0 0 1 0 1
DLD 0 0 0 1 0 1
DLG3 0 0 1 0 0 1
DLX3 0 0 0 1 0 1
DNAH10 0 0 0 1 0 1
DNAH10, LOC126861667 0 0 0 1 0 1
DNAH17 0 0 0 1 0 1
DNAJC16 0 0 0 1 0 1
DNAJC21 0 0 0 0 1 1
DNASE1L1, TAFAZZIN 0 0 0 1 0 1
DNM1 0 0 0 1 0