ClinVar Miner

Variants from 3billion

Location: Korea, Republic of  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
2185 1765 1310 9 0 5269

Gene and significance breakdown #

Total genes and gene combinations: 1804
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NF1 53 18 8 0 79
MYBPC3 25 19 4 0 48
COL4A5 6 22 10 0 38
COL1A1 20 8 5 0 33
ABCA4 19 10 2 0 31
ARID1B 15 16 0 0 31
DMD 13 11 7 0 31
FBN1 8 14 9 0 31
MYH7 12 17 2 0 31
KMT2D 15 9 5 0 29
TSC2 12 11 6 0 29
PAH 25 2 1 0 28
PTPN11 26 2 0 0 28
PKD1 10 11 6 0 27
COL4A4 4 10 12 0 26
GLA, RPL36A-HNRNPH2 6 11 5 2 24
USH2A 17 5 2 0 24
COL7A1 10 4 9 0 23
F8 12 10 1 0 23
CHD7 13 6 3 0 22
ATM 16 2 0 0 18
COL2A1 5 9 4 0 18
MYO15A 6 5 7 0 18
TCOF1 5 12 1 0 18
ANKRD11 12 5 0 0 17
CDH23 3 3 11 0 17
CYP21A2, LOC106780800 7 5 4 1 17
KMT2A 8 8 0 0 16
NOTCH3 5 3 8 0 16
SCN1A 8 5 3 0 16
MECP2 11 3 1 0 15
OCA2 2 9 4 0 15
SLC26A4 9 5 1 0 15
ABCD1 5 3 6 0 14
ATM, C11orf65 11 3 0 0 14
GNAS 6 4 4 0 14
KCNQ2 5 5 4 0 14
MYO7A 7 4 3 0 14
NIPBL 4 9 1 0 14
SACS 1 10 3 0 14
ATP1A3 8 3 2 0 13
COL1A2 7 3 3 0 13
COL4A1 3 4 6 0 13
CRB1 2 7 4 0 13
CREBBP 3 8 2 0 13
NPHS1 4 1 8 0 13
PKHD1 4 6 3 0 13
PKLR 2 3 8 0 13
PMM2 7 6 0 0 13
SCN2A 2 7 4 0 13
TTN 8 5 0 0 13
ABCC8 5 4 3 0 12
AGL 6 3 3 0 12
AR 2 6 4 0 12
BRAF 9 3 0 0 12
CAPN3 5 5 2 0 12
COL4A3, MFF-DT 2 4 6 0 12
DYNC1H1 2 3 7 0 12
LAMA2 8 3 1 0 12
LDLR 8 4 0 0 12
PAX2 4 5 3 0 12
SCN8A 5 2 5 0 12
SLC12A3 6 3 3 0 12
ZEB2 8 4 0 0 12
ASPM 9 2 0 0 11
EP300 4 5 2 0 11
EYS 4 3 4 0 11
HBB, LOC106099062, LOC107133510 9 2 0 0 11
LRP5 2 5 4 0 11
MED13L 4 6 1 0 11
SPG7 7 2 2 0 11
ATP7B 5 2 3 0 10
BEST1 2 5 3 0 10
CACNA1A 4 4 2 0 10
GJB2 8 2 0 0 10
MFN2 7 2 1 0 10
PLA2G6 3 3 4 0 10
RYR1 3 3 4 0 10
ABCB11 5 1 3 0 9
CASK 3 5 1 0 9
CFTR 6 1 2 0 9
COL11A1 1 1 7 0 9
CYP11B1, LOC106799833 5 2 2 0 9
DYRK1A 6 3 0 0 9
FOXG1 3 6 0 0 9
JAG1 4 4 1 0 9
PDHA1 3 3 3 0 9
PIK3CA 5 4 0 0 9
PTEN 6 2 1 0 9
SOS1 5 2 2 0 9
SYNGAP1 5 2 2 0 9
USP53 3 6 0 0 9
WDR45 6 2 1 0 9
ACTG1 2 3 3 0 8
ALPK3 3 5 0 0 8
ARSA 1 4 3 0 8
ASXL3 3 5 0 0 8
ATRX 5 1 2 0 8
CDKL5 1 4 3 0 8
DDX3X 3 5 0 0 8
DUOX2 3 2 3 0 8
FGFR3 7 1 0 0 8
GAA 7 0 1 0 8
GALC 4 1 3 0 8
GCK 1 5 2 0 8
GRIN2B 0 5 3 0 8
GUCY2D 3 4 1 0 8
KIF11 5 3 0 0 8
KIF1A 3 5 0 0 8
MED12 1 4 3 0 8
NALCN 4 2 2 0 8
NR5A1 2 1 5 0 8
NSD1 3 3 2 0 8
POLG, POLGARF 3 3 2 0 8
SATB2 6 2 0 0 8
SPAST 4 2 2 0 8
STXBP1 4 2 2 0 8
TBCEL-TECTA, TECTA 3 0 5 0 8
TCIRG1 3 3 2 0 8
TEK 0 5 3 0 8
TNNI3 4 3 1 0 8
ABCC2 3 3 1 0 7
AIPL1 1 4 2 0 7
AMT 2 1 4 0 7
CDKL5, RS1 3 4 0 0 7
CEP290 6 0 1 0 7
COL6A2 4 2 1 0 7
CTNNB1, LOC126806659 2 5 0 0 7
DYNC2H1 0 3 4 0 7
DYSF 3 4 0 0 7
ETFDH 2 1 4 0 7
FGFR2 7 0 0 0 7
GALNS 5 1 1 0 7
GDAP1 3 2 2 0 7
HNF1B 2 0 5 0 7
HUWE1 1 1 5 0 7
KCNQ1 6 1 0 0 7
KRAS 6 0 1 0 7
LOC102724058, SCN1A 2 3 2 0 7
LRBA 2 4 1 0 7
PIEZO2 4 3 0 0 7
RIT1 6 0 1 0 7
RPE65 4 3 0 0 7
RPGR 3 4 0 0 7
SH3TC2 5 1 1 0 7
SPG11 5 1 1 0 7
SURF1 5 1 1 0 7
TGM1 2 3 2 0 7
TPO 4 2 1 0 7
TSC1 3 4 0 0 7
TSPAN12 1 1 5 0 7
TYR 6 1 0 0 7
UMOD 1 5 1 0 7
ABCC6 4 2 0 0 6
ACTB 2 3 1 0 6
ADNP 3 3 0 0 6
ALDH18A1 3 3 0 0 6
ANK1 0 5 1 0 6
ASS1 3 2 1 0 6
BTK 4 2 0 0 6
CHD3 2 2 2 0 6
CNGB3 3 1 2 0 6
COL6A1 2 3 1 0 6
CTNS 5 1 0 0 6
DNAH5 2 1 3 0 6
EDA 4 2 0 0 6
FAH 2 1 3 0 6
FGFR1 0 3 3 0 6
FOXP1 1 4 1 0 6
GLI3 2 3 1 0 6
GNB1 3 2 1 0 6
KAT6B 2 4 0 0 6
KMT2B 2 3 1 0 6
LMNA 3 2 1 0 6
LOC126861898, MYH7 4 1 1 0 6
LPL 2 1 3 0 6
MITF 2 4 0 0 6
MPZ 2 4 0 0 6
MYH9 3 0 3 0 6
NTRK1 3 3 0 0 6
PCCB 2 2 2 0 6
PDE6C 5 0 1 0 6
PHEX 3 3 0 0 6
PKD2 2 3 1 0 6
POGZ 4 2 0 0 6
POLR3A 4 1 1 0 6
PTCH1 2 4 0 0 6
PURA 3 2 1 0 6
RAG1 0 5 1 0 6
SLC12A1 1 1 4 0 6
SLC4A1 1 3 2 0 6
SMARCA2 2 2 2 0 6
SMC1A 5 1 0 0 6
SMPD1 3 1 2 0 6
SPTB 0 5 1 0 6
SPTBN1 0 1 5 0 6
TFE3 3 1 2 0 6
TH 3 3 0 0 6
TMC1 2 1 3 0 6
TMPRSS3 3 1 2 0 6
TNNT2 2 2 2 0 6
TRIO 4 0 2 0 6
TRRAP 1 1 4 0 6
TTR 4 1 1 0 6
UNC13D 3 0 3 0 6
ACAN 1 3 1 0 5
AHDC1 1 4 0 0 5
ANO5 3 2 0 0 5
ARID2 1 4 0 0 5
CBS 2 2 1 0 5
CC2D2A 1 0 4 0 5
CDK13 4 0 1 0 5
CHRND 0 1 4 0 5
CLCN4 2 1 2 0 5
COL11A2 2 2 1 0 5
CSNK2A1 2 2 1 0 5
CTNNB1 3 1 1 0 5
CUL7 2 2 1 0 5
CYP11B2, LOC106799834 3 1 1 0 5
CYP27B1 2 2 1 0 5
DES 1 1 3 0 5
DHDDS 2 0 3 0 5
DOCK6 4 0 1 0 5
ECEL1 3 0 2 0 5
ERCC6 1 3 1 0 5
F9 3 2 0 0 5
FANCA 5 0 0 0 5
FLG 0 5 0 0 5
FLNB 0 2 3 0 5
FOXC1 1 2 2 0 5
FOXL2 2 2 1 0 5
G6PC1 3 0 2 0 5
GCDH 0 2 3 0 5
GCH1 3 1 1 0 5
GLDC 1 1 3 0 5
GNAO1 3 1 1 0 5
GRIN2A 2 1 2 0 5
GYS2 3 1 1 0 5
HSPG2 1 2 2 0 5
KMT2C 0 4 1 0 5
KRT14 4 0 1 0 5
LOC126862264, MEFV 4 0 1 0 5
LOXHD1 1 3 1 0 5
MTHFR 1 3 1 0 5
NAA10 2 2 1 0 5
NAA15 1 3 1 0 5
NBEA 0 2 3 0 5
NPC1 3 1 1 0 5
NPR2 1 2 2 0 5
OBSL1 4 1 0 0 5
PPT1 2 2 1 0 5
PYGL 1 0 4 0 5
RHO 3 2 0 0 5
SCN3A 0 4 1 0 5
SETBP1 3 2 0 0 5
SLC2A1 1 2 2 0 5
SNHG14, UBE3A 2 1 1 1 5
SPTBN2 1 1 3 0 5
SRCAP 1 4 0 0 5
STAT3 4 1 0 0 5
TCF4 2 3 0 0 5
TLK2 3 2 0 0 5
TP63 4 0 1 0 5
TRPM6 5 0 0 0 5
TUBB3 2 3 0 0 5
TULP1 2 2 1 0 5
TWIST1 5 0 0 0 5
VWF 3 0 2 0 5
WAS 1 3 1 0 5
WFS1 1 3 1 0 5
ZMYND11 3 0 2 0 5
ZNF292 1 4 0 0 5
ABCA12 1 0 3 0 4
ABCB4 1 1 2 0 4
ABL1 0 2 2 0 4
ACTC1, GJD2-DT 0 2 2 0 4
ADGRG1 2 0 2 0 4
ALMS1 3 1 0 0 4
ANKRD17 0 2 2 0 4
AP4M1 2 1 1 0 4
ASNS, CZ1P-ASNS 0 1 3 0 4
ATP8A2 2 1 1 0 4
BBS2 1 1 2 0 4
BBS7 1 2 1 0 4
CAMK2B 2 0 2 0 4
CASD1, SGCE 1 0 3 0 4
CCDC39 3 1 0 0 4
CCN6 4 0 0 0 4
CD36 2 1 1 0 4
CLCN3 0 0 4 0 4
CLDN19 2 2 0 0 4
CLN8 0 1 3 0 4
CLTC 0 3 1 0 4
CNGB1 2 1 1 0 4
COQ8B 1 1 2 0 4
CPS1 2 1 1 0 4
CPT2 2 0 2 0 4
CUBN 1 1 2 0 4
DCX 2 1 1 0 4
DIPK1A, RPL5 1 3 0 0 4
DST 3 1 0 0 4
EBF3 1 2 1 0 4
EIF2B5 2 0 2 0 4
EXT1 2 2 0 0 4
FBN2 1 0 3 0 4
FH 1 2 1 0 4
FKBP10 2 1 1 0 4
FLNA 1 1 2 0 4
GABRG2 1 1 2 0 4
GALT 3 0 1 0 4
GFPT1 1 2 1 0 4
GH-LCR, SCN4A 2 1 1 0 4
GJA8 2 0 2 0 4
GJB1 1 1 2 0 4
GNPTAB 2 1 1 0 4
GPHN, RDH12 1 2 1 0 4
GPIHBP1 0 1 3 0 4
HEXA 4 0 0 0 4
HK1 1 1 2 0 4
HTRA1 2 1 1 0 4
IGF1R 0 2 2 0 4
IRF2BPL 1 3 0 0 4
ITGA2B 2 0 2 0 4
ITPR1 1 1 2 0 4
KANSL1 0 2 1 1 4
KAT6A 1 3 0 0 4
KCNT1 2 1 0 1 4
LAMB2 1 2 1 0 4
MAGEL2 2 2 0 0 4
MCPH1 2 0 2 0 4
MLC1 2 0 2 0 4
MMUT 4 0 0 0 4
MSTO1 2 0 2 0 4
MTOR 0 3 1 0 4
MVP-DT, PRRT2 1 0 3 0 4
MYORG 0 0 4 0 4
NFIX 0 4 0 0 4
NGLY1 1 2 1 0 4
NKX2-1, SFTA3 1 3 0 0 4
NOTCH2 1 3 0 0 4
NPHS2 3 0 1 0 4
NR2F1 0 3 1 0 4
NUP107 1 2 1 0 4
NUP133 0 2 2 0 4
OCRL 3 1 0 0 4
OFD1 1 3 0 0 4
OPA1 3 0 1 0 4
PAFAH1B1 3 1 0 0 4
PGAP3 2 1 1 0 4
PHEX, PTCHD1 2 0 2 0 4
PHKA2 0 3 1 0 4
PNPLA6 0 2 2 0 4
POLR2F, SOX10 1 3 0 0 4
POU3F3 0 3 1 0 4
PROM1 2 2 0 0 4
PRR12 0 4 0 0 4
PTPN23 0 2 2 0 4
PYCR1 0 3 1 0 4
RAF1 2 1 1 0 4
RLBP1 1 3 0 0 4
RMRP 1 1 2 0 4
RNASEH2A 0 2 2 0 4
RPGRIP1 3 0 1 0 4
RTEL1, RTEL1-TNFRSF6B 1 1 2 0 4
SETD1B 0 3 1 0 4
SLC16A2 1 3 0 0 4
SLC26A3 2 1 1 0 4
SLC2A2 3 0 1 0 4
SLC34A1 0 1 3 0 4
SLC3A1 2 1 1 0 4
SLC6A1 1 2 1 0 4
SMARCA4 1 2 1 0 4
SMC3 1 2 1 0 4
SON 1 3 0 0 4
SPINK5 4 0 0 0 4
SPTA1 3 0 1 0 4
STAT1 2 0 2 0 4
STUB1 0 1 3 0 4
TMEM67 1 1 2 0 4
TNFRSF13B 3 0 1 0 4
TRPV4 3 0 1 0 4
TWNK 0 3 1 0 4
UBE3B 3 1 0 0 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 3 0 1 0 4
VARS2 1 1 2 0 4
VPS13B 2 1 1 0 4
WAC 2 2 0 0 4
WDR62 2 2 0 0 4
XPA 4 0 0 0 4
AAAS 2 0 1 0 3
ACP5 1 2 0 0 3
ACTL6B 1 1 1 0 3
ADA2 1 1 1 0 3
ADAMTS17 1 0 2 0 3
AFG3L2 1 0 2 0 3
AHI1 3 0 0 0 3
AIFM1, RAB33A 0 0 3 0 3
ALDH5A1 2 0 1 0 3
ALDH7A1 2 0 1 0 3
ALG1 1 2 0 0 3
ANO10 2 1 0 0 3
APOE 1 1 1 0 3
ASXL1 1 2 0 0 3
ATAD3A 1 0 2 0 3
ATL1 0 1 2 0 3
ATRIP, ATRIP-TREX1, TREX1 0 3 0 0 3
AVPR2 1 1 1 0 3
BBS1, ZDHHC24 2 0 1 0 3
BBS10 1 1 1 0 3
BRF1 2 0 1 0 3
BTD 1 2 0 0 3
C10orf105, CDH23 1 1 1 0 3
C19orf12 0 3 0 0 3
CACNA1A, LOC126862864 1 1 1 0 3
CACNA1C 1 1 1 0 3
CANT1 2 1 0 0 3
CBL 1 0 2 0 3
CCDST, FLG 2 1 0 0 3
CFH 0 0 3 0 3
CHAMP1 0 3 0 0 3
CHD2 0 3 0 0 3
CHM 2 1 0 0 3
CHRNG 3 0 0 0 3
CLCN1 2 0 1 0 3
CLN3 2 0 1 0 3
CLN6 0 2 1 0 3
CNGA1, LOC101927157 2 0 1 0 3
CNGA3 2 1 0 0 3
CNOT3 0 1 2 0 3
CNTNAP2 3 0 0 0 3
COQ8A 1 2 0 0 3
CPLANE1 0 3 0 0 3
CRTAP 1 1 1 0 3
CRX 1 2 0 0 3
CSF1R 0 2 1 0 3
CSNK2B 2 1 0 0 3
CSPP1 2 1 0 0 3
CUL4B 1 0 2 0 3
CYP1B1 2 1 0 0 3
CYP27A1 2 1 0 0 3
CYP4V2 2 0 1 0 3
DCDC2 3 0 0 0 3
DDB2 1 0 2 0 3
DDR2 0 0 3 0 3
DEPDC5 2 0 1 0 3
DHCR7 1 2 0 0 3
DNAH9 0 1 2 0 3
DNMT3A 1 1 1 0 3
EARS2 1 0 2 0 3
EFTUD2 0 3 0 0 3
EHMT1 3 0 0 0 3
F5 1 0 2 0 3
FARS2 0 2 1 0 3
FBP1 2 0 1 0 3
FBXL4 2 1 0 0 3
FBXO11 0 0 3 0 3
FDXR 0 2 1 0 3
FGD1 2 0 1 0 3
FLNC 1 2 0 0 3
FRAS1 1 1 1 0 3
FZD4, PRSS23 0 2 1 0 3
GAN 0 1 2 0 3
GARS1 0 1 2 0 3
GATA3 1 1 1 0 3
GLB1 0 1 2 0 3
GMPPB 1 2 0 0 3
GNE 2 1 0 0 3
GREB1L 0 2 1 0 3
GRIN1 1 2 0 0 3
GUCY2C 0 0 3 0 3
HBA2, LOC106804612 1 1 1 0 3
HDAC8 1 1 1 0 3
HNRNPK 0 1 2 0 3
HNRNPU 0 3 0 0 3
HSD17B3, SLC35D2-HSD17B3 1 0 2 0 3
IDUA 1 2 0 0 3
IFIH1 2 1 0 0 3
IL12RB1 3 0 0 0 3
ILDR1 2 1 0 0 3
INF2 2 1 0 0 3
IQCB1 2 1 0 0 3
IQSEC2 1 1 1 0 3
KCNJ1 1 1 1 0 3
KCNMA1 0 2 1 0 3
KDM5C 0 1 2 0 3
KLHL40 2 1 0 0 3
KRIT1 3 0 0 0 3
KRT9 1 2 0 0 3
LAMB3 2 0 1 0 3
LOC126861242, NDUFV1 2 1 0 0 3
LOC127814297, POU4F3 1 1 1 0 3
LRTOMT, TOMT 1 0 2 0 3
MAP1B 1 2 0 0 3
MAP2K1 2 1 0 0 3
MAPRE2 0 2 1 0 3
MBOAT7 2 1 0 0 3
MC1R 0 0 3 0 3
MEF2C 0 3 0 0 3
MEFV 2 0 1 0 3
MKS1 0 2 1 0 3
MMACHC 2 0 1 0 3
MN1 0 3 0 0 3
MORC2 3 0 0 0 3
MPIG6B 1 1 1 0 3
MPL 0 2 1 0 3
MPV17 2 0 1 0 3
MPZL2 2 1 0 0 3
MTM1 2 0 1 0 3
MYH3 0 0 3 0 3
MYL3 0 3 0 0 3
MYO6 1 0 2 0 3
NAGLU 3 0 0 0 3
NAXD 0 3 0 0 3
NAXE 2 1 0 0 3
NDP 0 2 1 0 3
NDRG1 1 1 1 0 3
NDUFAF6 1 0 2 0 3
NEB 1 0 2 0 3
NEFL 3 0 0 0 3
NFIA 0 3 0 0 3
NNT 2 0 1 0 3
NPHP3, NPHP3-ACAD11 2 1 0 0 3
NR2E3 1 0 2 0 3
NSD2 1 2 0 0 3
OTOA 1 1 1 0 3
OTOF 1 1 1 0 3
OTOG 1 1 1 0 3
OTOGL 3 0 0 0 3
OTX2 2 0 1 0 3
PANK2 2 0 1 0 3
PCARE 2 1 0 0 3
PCDH15 3 0 0 0 3
PCDH19 1 2 0 0 3
PDE6B 0 2 1 0 3
PHF21A 2 1 0 0 3
PHKB 3 0 0 0 3
PHKG2 2 0 1 0 3
PIGL 1 1 1 0 3
PIGT 3 0 0 0 3
PIK3R1 2 1 0 0 3
PIK3R2 1 1 1 0 3
PMP22 1 1 1 0 3
PNPT1 1 2 0 0 3
POLR2A 0 1 2 0 3
POMGNT1, TSPAN1 0 2 1 0 3
POMT2 0 2 1 0 3
PPP3CA 2 0 1 0 3
PRF1 2 0 1 0 3
PRG4 3 0 0 0 3
PRNP 1 1 1 0 3
PROP1 2 1 0 0 3
PRPH2 0 2 1 0 3
PRSS56 2 0 1 0 3
PSEN1 1 1 1 0 3
RAB3GAP1 2 0 1 0 3
RALA 1 1 1 0 3
RARS1 1 1 1 0 3
RHOBTB2 1 0 2 0 3
RNF170 0 2 1 0 3
RPS19 1 1 1 0 3
RPS6KA3 1 1 1 0 3
RS1 0 3 0 0 3
RUNX2 1 1 1 0 3
SERPINB7 3 0 0 0 3
SERPINF1 1 2 0 0 3
SETD1A 0 2 1 0 3
SFTPC 1 1 1 0 3
SLC10A1 0 2 1 0 3
SLC29A3 3 0 0 0 3
SLC5A1 0 1 2 0 3
SLCO2A1 0 2 1 0 3
SMAD4 3 0 0 0 3
SPRED1 1 2 0 0 3
SYT1 1 1 1 0 3
TBL1XR1 0 2 1 0 3
TCF20 1 2 0 0 3
TGFB2 1 2 0 0 3
TNNC1 1 1 1 0 3
TNPO2 0 1 2 0 3
TP53 2 1 0 0 3
TPM1 0 1 2 0 3
TRIOBP 2 1 0 0 3
TRPC6 0 1 2 0 3
TSHR 1 2 0 0 3
TUBB 1 0 2 0 3
TUBB4A 3 0 0 0 3
TUBG1 1 1 1 0 3
USH1C 0 1 2 0 3
USP9X 0 1 2 0 3
VDR 1 0 2 0 3
VLDLR 0 3 0 0 3
VPS13D 1 1 1 0 3
VPS33B 2 1 0 0 3
WT1 2 0 1 0 3
XPC 3 0 0 0 3
ZMYM2 0 3 0 0 3
ZNF142 2 1 0 0 3
AARS1 0 0 2 0 2
AARS2, POLR1C 1 0 1 0 2
ABCA4, LOC126805793 1 1 0 0 2
ABCB11, LOC126806400 0 0 2 0 2
ACADVL 0 1 1 0 2
ACAT1 1 0 1 0 2
ACBD6, LHX4 0 0 2 0 2
ACO2 0 0 2 0 2
ACTA1 0 1 1 0 2
ACTG2 1 0 1 0 2
ACTN2 0 2 0 0 2
ACTN4 0 1 1 0 2
ADAMTS13 2 0 0 0 2
ADAR 1 1 0 0 2
ADPRS 2 0 0 0 2
ADSL 0 1 1 0 2
ADSS1 2 0 0 0 2
AFG2A 1 0 1 0 2
AGA 2 0 0 0 2
AGO2, LOC126860545 1 0 1 0 2
AGXT 2 0 0 0 2
AICDA 1 1 0 0 2
AIRE 1 0 1 0 2
AKT3 2 0 0 0 2
ALDH4A1 2 0 0 0 2
ALDOB 2 0 0 0 2
ALG8 0 1 1 0 2
ALS2 0 2 0 0 2
AMER1 1 1 0 0 2
AP1G1 1 0 1 0 2
AP3B2, CPEB1 0 1 1 0 2
APC2 0 2 0 0 2
APOB 1 1 0 0 2
AQP2 1 0 1 0 2
AQP2, AQP5 2 0 0 0 2
ARCN1 0 2 0 0 2
ARID1A 0 2 0 0 2
ARSB 1 1 0 0 2
ARSL 1 1 0 0 2
ARX 0 1 1 0 2
ASH1L 0 1 1 0 2
ASL 2 0 0 0 2
ASPA, SPATA22 0 2 0 0 2
ATP13A2 2 0 0 0 2
ATP1A1 1 0 1 0 2
ATP1A2 0 1 1 0 2
ATP6V1B1 2 0 0 0 2
ATP7A 0 1 1 0 2
ATP8B1 2 0 0 0 2
AUTS2 0 1 1 0 2
BBS5 0 1 1 0 2
BCOR 0 2 0 0 2
BRPF1 0 2 0 0 2
BUB1B 1 1 0 0 2
C17orf107, CHRNE 1 0 1 0 2
CACNA1E 1 1 0 0 2
CACNA2D2 2 0 0 0 2
CAMK2G 0 1 1 0 2
CARMIL2 0 1 1 0 2
CARS1 0 0 2 0 2
CAST, LOC101929710, PCSK1 0 2 0 0 2
CCDC40 1 0 1 0 2
CCDC47 0 1 1 0 2
CD40LG 1 1 0 0 2
CD46 1 1 0 0 2
CEP135 1 1 0 0 2
CEP152 2 0 0 0 2
CERKL 0 1 1 0 2
CFI 0 0 2 0 2
CFTR, LOC111674475 1 1 0 0 2
CHAT 0 0 2 0 2
CHD8 1 1 0 0 2
CHRNA1 0 1 1 0 2
CHROMR, PRKRA 1 1 0 0 2
CLCN5, LOC126863258 0 1 1 0 2
CNKSR2 1 0 1 0 2
COA8 1 1 0 0 2
COL12A1 2 0 0 0 2
COL4A3, LOC129935730 1 1 0 0 2
COL6A3 1 0 1 0 2
COLQ 2 0 0 0 2
COQ6, ENTPD5 0 1 1 0 2
COX20 0 2 0 0 2
CRPPA 0 0 2 0 2
CYFIP2 1 1 0 0 2
CYP1B1, LOC128772254 1 1 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 2
CYP2U1 0 1 1 0 2
CYP4F22 2 0 0 0 2
DDX11 1 0 1 0 2
DGUOK 1 0 1 0 2
DHX30 1 1 0 0 2
DICER1 0 2 0 0 2
DKC1 0 0 2 0 2
DLG4 1 1 0 0 2
DNA2 0 0 2 0 2
DNAH11 0 0 2 0 2
DNAJC21 0 1 1 0 2
DNASE1L3 0 0 2 0 2
DNM1L 1 1 0 0 2
DNM2 1 1 0 0 2
DOK7 1 1 0 0 2
DPAGT1 1 1 0 0 2
DPYS 0 0 2 0 2
DSPP 0 1 1 0 2
DUOXA2 1 1 0 0 2
DYM 2 0 0 0 2
EBP 1 0 1 0 2
ECHS1, LOC130005023 0 1 1 0 2
ECM1 2 0 0 0 2
EDAR, RANBP2 2 0 0 0 2
EDNRB 0 1 1 0 2
EEF1A2 1 1 0 0 2
ELAC2 0 1 1 0 2
ELMO2 2 0 0 0 2
EMC1 0 1 1 0 2
EMD 0 1 1 0 2
ENG 1 0 1 0 2
ERCC2 0 1 1 0 2
ERF 2 0 0 0 2
ESPN 1 1 0 0 2
EZH2 1 1 0 0 2
F13A1 1 0 1 0 2
FA2H, LOC130059394 1 0 1 0 2
FANCA, ZNF276 2 0 0 0 2
FAR1 1 0 1 0 2
FERMT1 2 0 0 0 2
FOXC2 0 2 0 0 2
FOXE3, LINC01389 1 1 0 0 2
FREM1 0 0 2 0 2
FREM2 0 1 1 0 2
FRMPD4 0 2 0 0 2
FUT8 0 1 1 0 2
G6PC3, LOC130060959 2 0 0 0 2
G6PD 1 1 0 0 2
GABBR2 1 1 0 0 2
GABRB2 0 2 0 0 2
GABRB3 1 1 0 0 2
GANAB 0 0 2 0 2
GATAD2B 1 1 0 0 2
GBA1, LOC106627981 2 0 0 0 2
GCM2 0 1 1 0 2
GDI1 0 2 0 0 2
GFAP 1 1 0 0 2
GFM1 0 1 1 0 2
GFM2 0 1 1 0 2
GHR 0 1 1 0 2
GJC2 1 0 1 0 2
GNB2 2 0 0 0 2
GNPTG 2 0 0 0 2
GP1BB, SEPT5-GP1BB 0 2 0 0 2
GPD1 1 0 1 0 2
GPHN, RDH12, ZFYVE26 0 1 1 0 2
GPI 0 1 1 0 2
GPR143 0 2 0 0 2
GPR179 1 1 0 0 2
GZF1 2 0 0 0 2
H1-4 2 0 0 0 2
H3-3A 1 0 1 0 2
HBA1, LOC106804613 1 1 0 0 2
HEXB 2 0 0 0 2
HINT1 2 0 0 0 2
HMBS 1 1 0 0 2
HMGA2 0 1 1 0 2
HNF1A 0 0 2 0 2
HNF4A 1 1 0 0 2
HRAS, LRRC56 2 0 0 0 2
HSD17B4 2 0 0 0 2
HSD3B2 1 1 0 0 2
HSD3B7 1 0 1 0 2
HSF4 1 0 1 0 2
IFNGR1 1 0 1 0 2
IFT140, LOC105371046 1 1 0 0 2
IGHMBP2 2 0 0 0 2
INPP5K 0 0 2 0 2
ITGB3 1 0 1 0 2
ITPA 2 0 0 0 2
IVD 1 0 1 0 2
KARS1 0 0 2 0 2
KCNA2 1 1 0 0 2
KCNC3 2 0 0 0 2
KCNH2 0 1 1 0 2
KCNT2 0 2 0 0 2
KCNV2 0 0 2 0 2
KDM6A 1 1 0 0 2
KIDINS220 1 1 0 0 2
KIF5A 1 0 1 0 2
KRT10 1 1 0 0 2
KRT5 0 2 0 0 2
KYNU 0 1 1 0 2
LAMC2 2 0 0 0 2
LCP2 0 0 2 0 2
LGI4 0 1 1 0 2
LMBRD2 0 1 1 0 2
LMX1A 1 1 0 0 2
LOC107303340, VHL 0 0 2 0 2
LOC123956210, SLC26A4 1 1 0 0 2
LOC126859827, TAB2 1 1 0 0 2
LTBP1 0 2 0 0 2
LTBP2 1 0 1 0 2
LYST 1 0 1 0 2
LZTR1 2 0 0 0 2
MAN2B1 1 0 1 0 2
MAP2K2 1 1 0 0 2
MAPK8IP3 1 0 1 0 2
MARVELD2 2 0 0 0 2
MC4R 1 0 1 0 2
MED13 0 1 1 0 2
MERTK 0 1 1 0 2
MME 1 0 1 0 2
MPI 0 1 1 0 2
MSL3 1 1 0 0 2
MTRR 1 0 1 0 2
MYL2 1 0 1 0 2
MYO18B 0 2 0 0 2
MYO5B 0 1 1 0 2
MYRF 1 1 0 0 2
NACC1 1 1 0 0 2
NANS, TRIM14 0 1 1 0 2
NBAS 0 1 1 0 2
NCDN 0 1 1 0 2
NEK1 1 1 0 0 2
NEXMIF 2 0 0 0 2
NFIB 1 0 1 0 2
NHEJ1 2 0 0 0 2
NKX2-5 0 1 1 0 2
NR0B1 0 2 0 0 2
NRAS 1 1 0 0 2
P3H1 0 2 0 0 2
PCCA 1 1 0 0 2
PDZD9, UQCRC2 0 0 2 0 2
PEX26 1 0 1 0 2
PEX5 0 1 1 0 2
PEX6 0 2 0 0 2
PHIP 0 1 1 0 2
PI4KA 0 0 2 0 2
PIBF1 0 2 0 0 2
PIGA 0 2 0 0 2
PLAA 0 1 1 0 2
PLCB4 0 1 1 0 2
PLEC 2 0 0 0 2
PLP1, RAB9B 0 1 1 0 2
PLS3 0 2 0 0 2
PNPLA1 0 1 1 0 2
POLE 0 1 1 0 2
POLR1B 0 0 2 0 2
POLR1D 0 2 0 0 2
POU1F1 0 2 0 0 2
PPM1D 0 2 0 0 2
PPP1R21 0 2 0 0 2
PPP2R1A 1 1 0 0 2
PPP2R5D 1 1 0 0 2
PQBP1 1 0 1 0 2
PRDX3 0 1 1 0 2
PREPL, SLC3A1 0 1 1