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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes:
AC005609.1, AC010536.1, AC012123.1, AC017104.2, AC025278.1, AC068620.1, AC096644.1, ACPP, AKAP3, AL133373.1, ALG9, ANKRD36, ANKRD36C, ANO7, AOAH, AP001468.1, AP003062.1, AQP7, ASB10, ATG9B, ATXN3, B3GNT6, C10ORF68, C10orf113, C11orf40, C14orf23, C16orf52, C17orf100, C21orf49, CARD10, CASP9, CBWD3, CCDC129, CD200R1L, CDC27, CDCP2, CELA1, CEP89, CHRFAM7A, CLDN16, CLECL1, CMTM5, COL26A1, COL6A5, COPZ2, CRIPAK, CTB-78H18.1, CTBP2, CYP2F1, DCAF7, DEFB126, DENND4B, DHDH, DNAH9, DRD4, DUX4L6, EP400NL, EPDR1, FAM136A, FAM186A, FAM230A, FAM64A, FAM81B, FAM86B1, FBXW10, FCN3, FOXD1, FOXD4, FRG1B, FRG2C, GALR2, GAS2L1, GDPD4, GFRAL, GLT6D1, GOLGA6L2, GOLGA6L6, GPATCH4, GPRIN1, GRTP1, HERC2, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HLA-DRB5, HLA-G, HNRNPA1L2, HPR, HRCT1, HRNR, HS3ST6, HSD17B13, HSH2D, HTR3E, HYDIN, IFNL4, IGFBPL1, IGHJ6, IGHV1-24, IGHV3-38, IGHV3-48, IGHV4-39, IGLJ2, IGLV3-16, IGLV4-60, IL32, IQSEC1, ITIH5, KIR2DL4, KIR3DL2, KMT2E, KRTAP10-1, KRTAP19-6, KRTAP29-1, KRTAP5-5, LCA10, LEPREL2, LILRA2, LILRB2, LINC00955, LUZP1, MADCAM1, MAML3, MDP1, MESP1, MICA, MMP28, MS4A14, MTPAP, MUC16, MUC19, MUC20, MUC4, MUC6, MYCT1, NCAM1, NLRC3, NOMO2, NOP16, NOTCH2, OR10AD1, OR10J4, OR11G2, OR12D1, OR13C2, OR13C5, OR1B1, OR2B11, OR2T12, OR2T35, OR2T4, OR2T7, OR4C5, OR4L1, OR4Q2, OR51F1, OR51I2, OR51J1, OR52B4, OR5B3, OR5D16, OR5M1, OR6A2, OR6C1, OR6C76, OR8U1, P2RX5, PCDHA4, PCDHB8, PDE4DIP, PDE6G, PKD1L2, PLEKHM2, PLIN4, PNLIPRP2, POP1, PRDM15, PRKRA, PRMT8, PRSS3, PSG8, RIBC2, RP11-131H24.4, RP11-156E8.1, RP11-166B2.1, RP11-17M16.1, RP11-181C3.1, RP11-297N6.4, RP11-383H13.1, RP11-463J10.2, RP11-758M4.1, RRBP1, RYK, S100A1, SARM1, SBK3, SCARF2, SERPINB3, SHANK1, SHROOM4, SIGLEC12, SIGLECL1, SIRPA, SIRPB1, SLAIN1, SLC9B1, SMAP1, SON, SPANXN2, SPATC1, SPTBN5, SRA1, SRL, SRRM3, SRSF8, TAS2R43, TCEAL6, TDG, TGIF1, TIGD6, TP53I11, TRAJ37, TRAPPC2L, TRAV19, TRBV10-1, TRBV11-1, TRBV5-4, TRBV6-5, TRBV7-3, TRBV7-8, UBXN11, UNC13A, VWDE, WNK1, ZAN, ZDHHC11B, ZFPM1, ZNF233, ZNF480, ZNF516, ZNF626, ZNF681, ZNF717, ZNF812, ZNF852, ZNF880,

Genes at Omim

ALG9, AQP7, ASB10, ATXN3, CLDN16, DNAH9, DRD4, FCN3, HERC2, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HLA-G, HYDIN, MTPAP, NOTCH2, PDE6G, POP1, PRKRA, SCARF2, SHROOM4, SON, TGIF1, TRAPPC2L, WNK1,
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
FCN3 Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
POP1 Anauxetic dysplasia 2, 617396 (3)
PRKRA Dystonia 16, 612067 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SON ZTTK syndrome, 617140 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TRAPPC2L Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ALG9, ATXN3, CLDN16, FCN3, HERC2, HLA-A, HLA-B, MTPAP, NOTCH2, PDE6G, PRKRA, SCARF2, SHROOM4, TGIF1, WNK1, ZNF480,
ALG9 Congenital disorder of glycosylation, type Il
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
CLDN16 Hypomagnesemia 3, renal
FCN3 Immunodeficiency due to Ficolin 3 deficiency
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
MTPAP Spastic ataxia 4, autosomal recessive
NOTCH2 Alagille syndrome 2
PDE6G Retinitis pigmentosa 57
PRKRA Dystonia 16
SCARF2 Van den Ende-Gupta syndrome
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
TGIF1 Holoprosencephaly 4
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 422
Number of Genes: 247

Export to: CSV

AC005609.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 5 rs11321479
dbSNP Clinvar
140242451 1933.83 GC G PASS 0/1 185 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC010536.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 16 rs34111279
dbSNP Clinvar
87729334 3006.59 C CA PASS 0/1 253 FRAME_SHIFT HIGH None None None None None None None JPH3|0.231218042|33.27%

AC012123.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 18 rs200605696
dbSNP Clinvar
30352057 4598.56 GC... G PASS 1/1 145 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%

AC017104.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs11295750,rs796987985
dbSNP Clinvar
232317402 1943.85 CA C PASS 0/1 86 FRAME_SHIFT HIGH None 0.23582 0.23580 None None None None None None None

AC025278.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 19 rs113730497
dbSNP Clinvar
7011876 901.11 GT G PASS 0/1 70 FRAME_SHIFT HIGH None 0.15216 0.15220 None None None None None None None

AC068620.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 4 . 57277065 193.76 TA... TA... PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None PPAT|0.443666776|18.5%

AC096644.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 1 rs10553491,rs67066512
dbSNP Clinvar
220603310 948.83 TGTGA T PASS 0/1 42 FRAME_SHIFT HIGH None None None None None None None None

ACPP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs751367677
dbSNP Clinvar
132061457 1430.25 GG... G PASS 0/1 89 FRAME_SHIFT HIGH None 0.00104 None None None None None None ACPP|0.270639599|29.85%

AKAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs67512580
dbSNP Clinvar
4735969 1663.82 GA G PASS 0/1 118 FRAME_SHIFT HIGH None 0.13195 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_94.variant39 12 rs200178782,rs397849865
dbSNP Clinvar
4735965 1666.83 T TC PASS 0/1 119 FRAME_SHIFT HIGH None 0.12956 None None None None None None AKAP3|0.022604217|72.88%

AL133373.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 14 rs34650717
dbSNP Clinvar
92040589 483.74 TC T PASS 1/1 65 FRAME_SHIFT HIGH None 0.49900 0.49900 0.48349 None None None None None None None

ALG9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 11 rs10708475
dbSNP Clinvar
111742145 2489.78 CG C PASS 1/1 63 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ANKRD36

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs746371426
dbSNP Clinvar
97818260 217.22 GGC G PASS 0/1 66 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View combined sample_94.variant39 2 rs141447363
dbSNP Clinvar
97779487 3526.21 GC G PASS 0/1 240 FRAME_SHIFT HIGH None 0.02416 0.02416 0.06444 None None None None None None ANKRD36|0.001192347|94.46%
View combined sample_94.variant39 2 rs772505240
dbSNP Clinvar
97818264 208.22 G GTT PASS 0/1 65 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs147285461
dbSNP Clinvar
96610395 873.71 C CA PASS 0/1 96 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs373126569
dbSNP Clinvar
96519558 745.36 ATCGT A PASS 0/1 84 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs111957693
dbSNP Clinvar
96525717 67.78 A AT PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs745741068
dbSNP Clinvar
96592970 138.96 G GAT PASS 0/1 68 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs772059065
dbSNP Clinvar
96592974 90.64 GTT G PASS 0/1 72 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs764442566
dbSNP Clinvar
96616501 1836.5 C CAA PASS 0/1 90 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 rs373114066
dbSNP Clinvar
96616505 1671.82 AGC A PASS 0/1 84 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 . 96521477 3187.63 A AG PASS 0/1 332 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 . 96521482 4540.29 ATGAG AAG,A PASS 0/1 372 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_94.variant39 2 . 96521479 4351.96 A AA... PASS 0/2 332 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%

ANO7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs60985508
dbSNP Clinvar
242163365 2838.13 TCA T PASS 0/1 166 FRAME_SHIFT HIGH None 0.09465 0.09465 0.10623 None None None None None None ANO7|0.004152604|86.8%

AOAH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs59476355
dbSNP Clinvar
36552729 4165.66 A AT PASS 1/1 143 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View combined sample_94.variant39 7 rs57543920
dbSNP Clinvar
36552790 3489.74 G GT PASS 1/1 122 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

AP001468.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 21 rs73908575,rs146297977
dbSNP Clinvar
47612512 8973.46 C CTG,G PASS 0/1 238 FRAME_SHIFT HIGH None 0.01098 0.72100 None None None None None None LSS|0.346361251|24.39%

AP003062.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 11 rs567001556
dbSNP Clinvar
134855496 731.96 C G,... PASS 1/1 17 FRAME_SHIFT HIGH None None None None None None None None

AQP7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs779982613
dbSNP Clinvar
33395134 475.34 A ACC PASS 0/1 361 FRAME_SHIFT HIGH None None None None None None None AQP7|0.012677613|78.76%

ASB10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs759438517
dbSNP Clinvar
150884266 1779.05 CAG CA... PASS 0/2 124 FRAME_SHIFT HIGH None None None None None None None ASB10|0.051312988|62.24%

ATG9B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 2328.44 G GC PASS 1/1 70 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATXN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 14 rs763541221
dbSNP Clinvar
92537354 2459.82 C CC... PASS 3/3 74 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%

B3GNT6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 11 rs11292200,rs796140348
dbSNP Clinvar
76751603 13658.1 CT C PASS 1/1 359 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_94.variant39 11 rs11292199
dbSNP Clinvar
76751584 13585.6 CT C PASS 1/1 368 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_94.variant39 11 rs11292198,rs796338514
dbSNP Clinvar
76751541 11217.3 CT C PASS 1/1 383 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

C10orf113

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 10 rs72102767,rs45546236
dbSNP Clinvar
21435340 2266.97 ACACT A PASS 0/1 88 FRAME_SHIFT HIGH None 0.25160 0.25160 0.19292 None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C10ORF68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 10 rs528676800,rs371466318
dbSNP Clinvar
33136818 1486.38 TAA T PASS 0/1 93 FRAME_SHIFT HIGH None 0.01577 0.01577 0.03340 None None None None None None None

C11orf40

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 11 rs71280817
dbSNP Clinvar
4592708 1661.9 C CAG PASS 0/1 104 FRAME_SHIFT HIGH None 0.57612 None None None None None None C11orf40|0.000863852|96.27%

C14orf23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 14 rs56025822
dbSNP Clinvar
29261309 3053.56 A AA... PASS 0/1 127 FRAME_SHIFT HIGH None 0.28894 0.42170 None None None None None None LINC01551|0.030992921|68.96%

C16orf52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 16 rs201044196
dbSNP Clinvar
22019646 273.31 AG A PASS 0/1 35 FRAME_SHIFT HIGH None 0.12820 0.12820 0.09676 None None None None None None C16orf52|0.695855128|8.61%

C17orf100

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs56268735,rs397697335
dbSNP Clinvar
6555546 5283.58 C CG PASS 1/1 199 FRAME_SHIFT HIGH None 0.99980 0.99980 0.00401 None None None None None None C17orf100|0.00636282|84.22%

C21orf49

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 21 rs72564613
dbSNP Clinvar
34169317 3477.67 C CT PASS 1/1 100 FRAME_SHIFT HIGH None 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

CARD10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 22 rs113275238,rs60611523
dbSNP Clinvar
37906308 3526.45 GC... G,... PASS 1/1 180 FRAME_SHIFT HIGH None 0.01777 0.30970 None None None None None None CARD10|0.081670514|54.84%

CASP9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 1 rs2234723,rs397776921
dbSNP Clinvar
15820307 660.28 A AC PASS 1/1 25 FRAME_SHIFT HIGH None 0.23582 0.23580 None None None None None None CASP9|0.380237916|22.03%

CBWD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs200498038
dbSNP Clinvar
70900911 81.75 G GA PASS 1/1 3 FRAME_SHIFT HIGH None 0.49062 0.49060 0.46181 None None None None None None CBWD3|0.033490012|67.95%

CCDC129

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs567140275,rs35589779
dbSNP Clinvar
31697913 285.44 C CT PASS 0/1 40 FRAME_SHIFT HIGH None 0.35923 0.35920 None None None None None None CCDC129|0.005928551|84.65%

CD200R1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs58161637
dbSNP Clinvar
112545910 1865.81 GT G PASS 0/1 117 FRAME_SHIFT HIGH None 0.16793 0.16790 0.25348 None None None None None None CD200R1L|0.000888221|96.09%

CDC27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 . 45214613 7493.35 TA T PASS 0/1 324 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_94.variant39 17 . 45232087 49.41 T TA... PASS 0/1 49 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_94.variant39 17 rs138264973
dbSNP Clinvar
45214617 7085.49 G GC PASS 0/1 296 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%

CDCP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 1 rs36013100
dbSNP Clinvar
54605319 315.63 G GC PASS 1/1 61 FRAME_SHIFT HIGH None 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CELA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs148235680
dbSNP Clinvar
51740416 1220.85 C CG PASS 0/1 100 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%
View combined sample_94.variant39 12 rs17860363
dbSNP Clinvar
51723598 669.29 A AG PASS 0/1 77 FRAME_SHIFT HIGH None 0.14557 0.14560 0.24992 None None None None None None CELA1|0.06097239|59.6%
View combined sample_94.variant39 12 rs370927847
dbSNP Clinvar
51740415 1220.44 A AAG PASS 0/1 99 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%

CEP89

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 19 rs796214581
dbSNP Clinvar
33444599 658.54 CTT C,... PASS 0/5 162 FRAME_SHIFT HIGH None None None None None None None CEP89|0.007695004|82.86%

CHRFAM7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 15 rs201490160
dbSNP Clinvar
30665280 1909.77 TCA T PASS 1/1 31 FRAME_SHIFT HIGH None 0.38698 0.38700 0.34599 None None None None None None CHRFAM7A|0.105656151|50.1%

CLDN16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs368234054
dbSNP Clinvar
190106071 3735.62 AG A PASS 0/1 200 FRAME_SHIFT HIGH None 0.11701 0.11700 None None None None None None CLDN16|0.053365905|61.68%

CLECL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 4274.67 A AT... PASS 1/1 215 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

CMTM5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 14 rs367613599
dbSNP Clinvar
23847975 3007.58 C CCG PASS 0/1 144 FRAME_SHIFT HIGH None 0.01378 0.01378 0.01799 None None None None None None CMTM5|0.163742351|41.06%

COL26A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 2258.83 A AG PASS 1/1 101 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL6A5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs11355796,rs398091810
dbSNP Clinvar
130190720 3807.97 AT A PASS 0/1 117 FRAME_SHIFT HIGH None 0.49161 0.49160 None None None None None None COL6A5|0.015397469|76.88%

COPZ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs199699704
dbSNP Clinvar
46115072 417.48 C CG PASS 1/1 23 FRAME_SHIFT HIGH None 0.99960 0.99960 None None None None None None COPZ2|0.191382819|37.68%
View combined sample_94.variant39 17 rs201261614
dbSNP Clinvar
46115084 383.44 T TGG PASS 1/1 21 FRAME_SHIFT HIGH None 0.99780 0.99780 None None None None None None COPZ2|0.191382819|37.68%

CRIPAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 4 rs759566743
dbSNP Clinvar
1388759 2517.08 C CG... PASS 0/1 143 FRAME_SHIFT HIGH None None None None None None None CRIPAK|0.000914016|95.95%

CTB-78H18.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 5 . 171201626 248.08 CAATT CT,C PASS 0/2 74 FRAME_SHIFT HIGH None None None None None None None None

CTBP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 10 rs140913543
dbSNP Clinvar
126678122 88.05 GT G PASS 0/1 34 FRAME_SHIFT HIGH None None None None None None None CTBP2|0.585435328|12.33%
View combined sample_94.variant39 10 . 126691950 65.06 AC A PASS 0/1 102 FRAME_SHIFT HIGH None None None None None None None CTBP2|0.585435328|12.33%

CYP2F1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 19 rs3833221,rs79756737
dbSNP Clinvar
41622107 1857.47 G GC PASS 1/1 76 FRAME_SHIFT HIGH None 0.27197 0.27200 0.25555 None None None None None None CYP2F1|0.005806489|84.82%

DCAF7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs66502552,rs398031306
dbSNP Clinvar
61660889 4683.44 CG C PASS 1/1 135 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00026 None None None None None None DCAF7|0.572121444|12.88%

DEFB126

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 20 rs11467497,rs397788846
dbSNP Clinvar
126155 4293.11 GCAAA G PASS 0/1 277 FRAME_SHIFT HIGH None 0.19180 None None None None None None DEFB126|0.000084056|99.96%
View combined sample_94.variant39 20 rs11467417,rs386393058
dbSNP Clinvar
126310 10302.0 ACC A PASS 0/1 215 FRAME_SHIFT HIGH None 0.43378 None None None None None None DEFB126|0.000084056|99.96%

DENND4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 1 rs375088543
dbSNP Clinvar
153907306 3344.46 T TGC PASS 0/1 192 FRAME_SHIFT HIGH None None None None None None None DENND4B|0.160276064|41.5%
View combined sample_94.variant39 1 rs35902206
dbSNP Clinvar
153907305 3345.86 G GC PASS 0/1 192 FRAME_SHIFT HIGH None None None None None None None DENND4B|0.160276064|41.5%

DHDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 19 rs3830420,rs397960489
dbSNP Clinvar
49442849 976.28 T TG PASS 0/1 65 FRAME_SHIFT HIGH None 0.25479 0.25480 None None None None None None DHDH|0.020170605|74.09%

DNAH9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs761517350
dbSNP Clinvar
11501856 1654.59 A AC... PASS 0/1 103 FRAME_SHIFT HIGH None None None None None None None DNAH9|0.176098085|39.51%

DRD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 11 . 640108 76.93 CA C PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None DRD4|0.015467826|76.84%

DUX4L6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 4 . 190995830 37.63 CG C PASS 1/1 3 FRAME_SHIFT HIGH None None None None None None None DUX4L6|0.00068972|97.33%

EP400NL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs547612893
dbSNP Clinvar
132588899 974.04 GT G PASS 1/1 25 FRAME_SHIFT HIGH None 0.00060 0.00060 0.00067 None None None None None None EP400NL|0.008590229|82.06%

EPDR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs201513905,rs76859517
dbSNP Clinvar
37960262 1127.07 AA... A PASS 0/1 115 FRAME_SHIFT HIGH None 0.16074 0.16070 0.26081 None None None None None None EPDR1|0.032281464|68.48%,SFRP4|0.480487911|16.74%

FAM136A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs761817680
dbSNP Clinvar
70524511 384.57 ACTGT A PASS 0/1 121 FRAME_SHIFT HIGH None None None None None None None FAM136A|0.019073327|74.63%
View combined sample_94.variant39 2 rs753927903
dbSNP Clinvar
70524508 405.64 A ACAGC PASS 0/1 117 FRAME_SHIFT HIGH None None None None None None None FAM136A|0.019073327|74.63%

FAM186A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs773026868
dbSNP Clinvar
50745861 1299.78 T TGA PASS 0/1 390 FRAME_SHIFT HIGH None None None None None None None FAM186A|0.00104253|95.21%
View combined sample_94.variant39 12 rs762780805
dbSNP Clinvar
50745863 11377.4 C CC... PASS 0/1 396 FRAME_SHIFT HIGH None None None None None None None FAM186A|0.00104253|95.21%

FAM230A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 22 . 20710344 426.86 GA... G DRAGENHardINDEL 0/1 438 FRAME_SHIFT HIGH None None None None None None None FAM230A|0.000608157|97.89%,USP41|0.001419633|93.25%
View combined sample_94.variant39 22 . 20710338 531.98 GCTAA G DRAGENHardINDEL 0/1 403 FRAME_SHIFT HIGH None None None None None None None FAM230A|0.000608157|97.89%,USP41|0.001419633|93.25%

FAM64A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs111825381
dbSNP Clinvar
6349444 2256.96 TC T PASS 0/1 107 FRAME_SHIFT HIGH None 0.04872 0.04872 None None None None None None FAM64A|0.014820595|77.28%

FAM81B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 5 rs373017124
dbSNP Clinvar
94772571 370.15 A AC PASS 0/1 59 FRAME_SHIFT HIGH None 0.00651 None None None None None None FAM81B|0.072891187|56.8%

FAM86B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 8 rs777526481
dbSNP Clinvar
12043949 82.87 GCTGT G PASS 0/1 58 FRAME_SHIFT HIGH None 0.00662 None None None None None None FAM86B1|0.001793469|91.55%

FBXW10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs201275430
dbSNP Clinvar
18681857 1911.72 AG A PASS 0/1 124 FRAME_SHIFT HIGH None 0.01498 0.01498 0.01513 None None None None None None FBXW10|0.006929798|83.58%

FCN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 1 rs532781899
dbSNP Clinvar
27699670 2008.21 AG A PASS 0/1 223 FRAME_SHIFT HIGH None 0.01877 0.01877 0.02109 None None None None None None FCN3|0.008201885|82.47%

FOXD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 5 rs587745355
dbSNP Clinvar
72743299 1037.25 G GGC PASS 1/1 44 FRAME_SHIFT HIGH None 0.98383 0.98380 0.10000 None None None None None None FOXD1|0.019486664|74.44%

FOXD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs773530430
dbSNP Clinvar
117366 140.86 C CCG PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%
View combined sample_94.variant39 9 rs754377138
dbSNP Clinvar
117370 82.82 GCC G PASS 0/1 26 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%

FRG1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 20 rs138867112,rs57432223,rs397938424
dbSNP Clinvar
29632674 2347.79 T TA PASS 0/1 461 FRAME_SHIFT HIGH None None None None None None None FRG1B|0.009509512|81.26%

FRG2C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs144577984
dbSNP Clinvar
75714805 5238.6 TG T PASS 0/1 665 FRAME_SHIFT HIGH None None None None None None None FRG2C|0.000891988|96.07%
View combined sample_94.variant39 3 rs373728386
dbSNP Clinvar
75714824 1968.68 AG A PASS 0/1 698 FRAME_SHIFT HIGH None None None None None None None FRG2C|0.000891988|96.07%

GALR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 17 rs67693166,rs66906990
dbSNP Clinvar
74073447 7677.98 TG... T PASS 1/1 389 FRAME_SHIFT HIGH None 0.03135 0.03135 0.02488 None None None None None None ZACN|0.001720136|91.81%,GALR2|0.024859122|71.87%

GAS2L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 22 rs34777709,rs397759036,rs397706110
dbSNP Clinvar
29707639 1767.47 G GC PASS 1/1 55 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00832 None None None None None None GAS2L1|0.022794635|72.8%