SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
A2ML1, AC005609.1, AC008686.1, AC012123.1, AC017104.2, AC096644.1, AGAP3, AGAP6, AL133373.1, AL136115.1, ALG9, ANKRD36, ANKRD36C, AOAH, AP001468.1, AQP12B, ARHGEF28, ASB10, ATG9B, ATP2B3, B3GNT3, B3GNT6, BCL11A, BCR, C11orf40, C14orf23, C17orf100, C21orf49, CARD8, CASP9, CCDC144NL, CCNK, CD200R1L, CDC27, CDCP2, CDK12, CELA1, CEP89, CHTF18, CLEC1A, CLECL1, CNN2, COL26A1, COL6A5, COPZ2, CRIPAK, CSHL1, CTB-78H18.1, CTBP2, CYP2D6, CYP2D7P, CYP2F1, DCAF7, DEFB126, DHDH, DNAH7, DUX4L7, EPDR1, EPPK1, FAM104B, FAM136A, FLG, FOXD1, FOXD4, FOXO6, FRG1B, FRG2C, GAB2, GAS2L1, GCN1L1, GDPD4, GLTSCR1, GNRH2, GOLGA6L2, GOLGA6L6, GPATCH4, GRIN3B, H6PD, HCG27, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HLA-DRB5, HRCT1, HRNR, HS3ST6, HSH2D, HYDIN, IFNL4, IGHJ6, IGHV3-48, IGHV6-1, IGLV3-16, IGLV5-45, IL32, IQSEC1, ITIH5, KIAA1522, KIAA1683, KIR2DL1, KIR2DL4, KMT2E, KRT24, KRTAP10-1, KRTAP19-6, KRTAP2-4, KRTAP29-1, KRTAP4-7, LCA10, LEPREL2, LINC00955, MADCAM1, MAML3, MAPK7, MDK, MESP1, MICA, MMP28, MPND, MS4A14, MTPAP, MUC16, MUC19, MUC20, MUC4, MUC6, NCAM1, NCR3LG1, NLRC3, NOP16, OBP2A, OR10J4, OR11G2, OR13C2, OR13C5, OR2D3, OR2T12, OR2T35, OR2T4, OR2T7, OR4C5, OR4L1, OR4Q2, OR51F1, OR51I2, OR52A1, OR5K3, OR5K4, OR8U1, P2RX5, PABPC3, PCDHA4, PDE4DIP, PGPEP1L, PKD1L2, PNLIPRP2, PNPLA7, POLR1B, PRDM15, PRIM2, PRKRA, PRR14, PRR25, PRSS3, PRSS48, PSORS1C1, RAI1, RBMX, RIBC2, RP11-131H24.4, RP11-166B2.1, RP11-17M16.1, RP11-297N6.4, RP11-368I7.4, RP11-383H13.1, RP11-758M4.1, RYK, SARM1, SBK3, SCARF2, SCRN3, SHANK1, SIGLEC12, SIRPA, SIRPB1, SKA3, SLAIN1, SLC25A5, SLC41A3, SLC9B1, SON, SPATA4, SPZ1, SRA1, SRL, SRRM3, SRSF8, TAS2R43, TAS2R50, TCEAL6, TCP11, TGIF1, TIGD6, TMEM80, TP53I11, TPM2, TPSD1, TRAJ37, TRBV10-1, TRBV11-1, TRBV3-1, TRBV5-4, TRBV6-5, TRBV7-3, TSHZ1, TTC24, TTLL6, TVP23C, UBBP4, VCX, WNK1, ZFPM1, ZFYVE19, ZNF141, ZNF233, ZNF443, ZNF480, ZNF516, ZNF626, ZNF681, ZNF717, ZNF852,

Genes at Omim

A2ML1, ALG9, ASB10, ATP2B3, BCL11A, BCR, CCNK, CLEC1A, CYP2D6, FLG, H6PD, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HYDIN, MTPAP, PRKRA, RAI1, RBMX, SCARF2, SON, TGIF1, TPM2, TSHZ1, WNK1, ZNF141,
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
BCL11A Dias-Logan syndrome, 617101 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CCNK ?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
FLG {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
Ichthyosis vulgaris, 146700 (3)
H6PD Cortisone reductase deficiency 1, 604931 (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)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
PRKRA Dystonia 16, 612067 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SON ZTTK syndrome, 617140 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ALG9, ATP2B3, BCL11A, BCR, CYP2D6, FLG, H6PD, HLA-A, HLA-B, MTPAP, PRKRA, RAI1, RBMX, SCARF2, TGIF1, TPM2, TSHZ1, WNK1, ZNF141, ZNF480,
ALG9 Congenital disorder of glycosylation, type Il
ATP2B3 Spinocerebellar ataxia, X-linked 1
BCL11A Severe speech sound disorder
BCR CML treatment, response to
CYP2D6 Drug metabolism, CYP2CD6-related
FLG Icthyosis vulgaris
H6PD Cortisone reductase deficiency
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
MTPAP Spastic ataxia 4, autosomal recessive
PRKRA Dystonia 16
RAI1 Smith-Magenis syndrome
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
SCARF2 Van den Ende-Gupta syndrome
TGIF1 Holoprosencephaly 4
TPM2 Nemaline myopathy 4
CAP myopathy
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 2B
TSHZ1 Aural atresia, congenital
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF141 Postaxial polydactyly type A, autosomal recessive
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 392
Number of Genes: 233

Export to: CSV

A2ML1

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_47.variant11 12 rs144686314
dbSNP Clinvar
9016562 1594.17 GGC G PASS 0/1 115 FRAME_SHIFT HIGH None 0.02696 0.02696 0.03944 None None None None None None A2ML1|0.011663794|79.48%

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_47.variant11 5 rs11321479
dbSNP Clinvar
140242451 1933.83 GC G PASS 0/1 202 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%

AC008686.1

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_47.variant11 19 rs780460521
dbSNP Clinvar
13899041 248.32 CT... CT... PASS 3/1 27 FRAME_SHIFT HIGH None None None None None None None None

AC012123.1

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_47.variant11 18 rs200605696
dbSNP Clinvar
30352057 4598.56 GC... G PASS 1/1 137 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_47.variant11 2 rs11295750,rs796987985
dbSNP Clinvar
232317402 1943.85 CA C PASS 0/1 108 FRAME_SHIFT HIGH None 0.23582 0.23580 None None None None None None None

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_47.variant11 1 rs10553491,rs67066512
dbSNP Clinvar
220603310 948.83 TGTGA T PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None None

AGAP3

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_47.variant11 7 rs552859803
dbSNP Clinvar
150783908 637.73 C CG PASS 1/1 14 FRAME_SHIFT HIGH None 0.99880 0.99880 None None None None None None AGAP3|0.094196358|52.32%
View combined sample_47.variant11 7 rs539642617
dbSNP Clinvar
150783900 285.58 C CG PASS 1/1 11 FRAME_SHIFT HIGH None 0.99880 0.99880 0.03750 None None None None None None AGAP3|0.094196358|52.32%

AGAP6

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_47.variant11 10 rs141217862
dbSNP Clinvar
51768674 3623.96 CAA C PASS 0/1 210 FRAME_SHIFT HIGH None 0.11801 0.11800 None None None None None None AGAP6|0.003119632|88.45%

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_47.variant11 14 rs34650717
dbSNP Clinvar
92040589 483.74 TC T PASS 0/1 54 FRAME_SHIFT HIGH None 0.49900 0.49900 0.48349 None None None None None None None

AL136115.1

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_47.variant11 1 rs546390637
dbSNP Clinvar
32379755 842.48 C CCCAA PASS 0/1 46 FRAME_SHIFT HIGH None None None None None None None PTP4A2|0.62283417|11.04%

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_47.variant11 11 rs10708475
dbSNP Clinvar
111742145 2489.78 CG C PASS 1/1 81 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_47.variant11 2 rs772505240
dbSNP Clinvar
97818264 208.22 G GTT PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View combined sample_47.variant11 2 rs746371426
dbSNP Clinvar
97818260 217.22 GGC G PASS 0/1 30 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_47.variant11 2 rs147285461
dbSNP Clinvar
96610395 873.71 C CA PASS 0/1 121 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 rs764442566
dbSNP Clinvar
96616501 1836.5 C CAA PASS 0/1 129 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 rs373114066
dbSNP Clinvar
96616505 1671.82 AGC A PASS 0/1 124 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 rs200875477
dbSNP Clinvar
96521244 1994.87 GTTTT G PASS 0/1 490 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 . 96521482 4540.29 ATGAG AAG,A PASS 0/1 377 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 rs373126569
dbSNP Clinvar
96519558 745.36 ATCGT A PASS 0/1 80 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 . 96521479 4351.96 A AA... PASS 0/2 362 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 2 . 96521487 2151.33 A AAC PASS 0/1 420 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_47.variant11 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_47.variant11 2 . 96521477 3187.63 A AG PASS 0/1 385 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%

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_47.variant11 7 rs57543920
dbSNP Clinvar
36552790 3489.74 G GT PASS 1/1 132 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View combined sample_47.variant11 7 rs59476355
dbSNP Clinvar
36552729 4165.66 A AT PASS 1/1 168 FRAME_SHIFT HIGH None 0.99980 0.99980 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_47.variant11 21 rs73908575,rs146297977
dbSNP Clinvar
47612512 8973.46 C CTG,G PASS 1/1 258 FRAME_SHIFT HIGH None 0.01098 0.72100 None None None None None None LSS|0.346361251|24.39%

AQP12B

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_47.variant11 2 rs201917032
dbSNP Clinvar
241621799 1119.78 GC G PASS 0/1 86 FRAME_SHIFT HIGH None 0.23203 0.23200 0.19662 None None None None None None AQP12B|0.003305104|88.08%

ARHGEF28

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_47.variant11 5 . 73181878 3263.11 CTGTT C PASS 0/1 177 FRAME_SHIFT HIGH None None None None None None None ARHGEF28|0.15892968|41.74%

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_47.variant11 7 rs759438517
dbSNP Clinvar
150884266 1779.05 CAG CA... PASS 0/1 129 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_47.variant11 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 2328.44 G GC PASS 1/1 56 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATP2B3

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_47.variant11 X rs781899255
dbSNP Clinvar
152845623 46.43 CGT C PASS 0/1 101 FRAME_SHIFT HIGH None None None None None None None ATP2B3|0.203946244|36.25%

B3GNT3

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_47.variant11 19 . 17918783 666.7 CAG C PASS 0/1 86 FRAME_SHIFT HIGH None None None None None None None B3GNT3|0.00215134|90.58%

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_47.variant11 11 rs11292200,rs796140348
dbSNP Clinvar
76751603 13658.1 CT C PASS 1/1 430 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_47.variant11 11 rs11292199
dbSNP Clinvar
76751584 13585.6 CT C PASS 1/1 429 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_47.variant11 11 rs11292198,rs796338514
dbSNP Clinvar
76751541 11217.3 CT C PASS 1/1 395 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

BCL11A

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_47.variant11 2 . 60688964 878.96 A AG... PASS 0/1 164 FRAME_SHIFT HIGH None None None None None None None BCL11A|0.997484889|0.61%

BCR

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_47.variant11 22 rs372013175
dbSNP Clinvar
23653975 136.4 T TCCGG PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None BCR|0.805888971|5.65%

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_47.variant11 11 rs141600462
dbSNP Clinvar
4592706 1968.17 T TAC PASS 0/1 134 FRAME_SHIFT HIGH None 0.42640 None None None None None None C11orf40|0.000863852|96.27%

C14orf23

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_47.variant11 14 rs56025822
dbSNP Clinvar
29261309 3053.56 A AA... PASS 0/1 170 FRAME_SHIFT HIGH None 0.28894 0.42170 None None None None None None LINC01551|0.030992921|68.96%

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_47.variant11 17 rs56268735,rs397697335
dbSNP Clinvar
6555546 5283.58 C CG PASS 1/1 175 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_47.variant11 21 rs72564613
dbSNP Clinvar
34169317 3477.67 C CT PASS 1/1 130 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%

CARD8

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_47.variant11 19 rs140826611,rs146319637
dbSNP Clinvar
48735017 2225.96 C CTT PASS 0/1 124 FRAME_SHIFT HIGH None 0.04213 0.04213 0.04266 None None None None None None ZNF114|0.000389534|99%,CARD8|0.001005926|95.39%

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_47.variant11 1 rs2234723,rs397776921
dbSNP Clinvar
15820307 660.28 A AC PASS 0/1 54 FRAME_SHIFT HIGH None 0.23582 0.23580 None None None None None None CASP9|0.380237916|22.03%

CCDC144NL

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_47.variant11 17 rs371295730
dbSNP Clinvar
20768762 71.27 T TC DRAGENHardINDEL 0/1 110 FRAME_SHIFT HIGH None None None None None None None CCDC144NL|0.000779475|96.79%
View combined sample_47.variant11 17 rs139187048
dbSNP Clinvar
20768755 114.73 CT C DRAGENHardINDEL 0/1 107 FRAME_SHIFT HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CCNK

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_47.variant11 14 . 99976596 165.49 CGG C PASS 0/1 38 FRAME_SHIFT HIGH None None None None None None None CCNK|0.48240794|16.64%
View combined sample_47.variant11 14 . 99976602 121.68 CTGTG C PASS 0/1 37 FRAME_SHIFT HIGH None None None None None None None CCNK|0.48240794|16.64%

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_47.variant11 3 rs58161637
dbSNP Clinvar
112545910 1865.81 GT G PASS 0/1 89 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_47.variant11 17 . 45229286 299.4 T TT... PASS 0/1 54 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_47.variant11 17 rs138264973
dbSNP Clinvar
45214617 7085.49 G GC PASS 0/1 209 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%
View combined sample_47.variant11 17 . 45214613 7493.35 TA T PASS 0/1 233 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_47.variant11 1 rs36013100
dbSNP Clinvar
54605319 315.63 G GC PASS 0/1 66 FRAME_SHIFT HIGH None 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%
View combined sample_47.variant11 1 rs3841798
dbSNP Clinvar
54605318 403.76 T TG... PASS 0/2 58 FRAME_SHIFT HIGH None 0.18150 None None None None None None CDCP2|0.053440915|61.64%

CDK12

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_47.variant11 17 . 37627698 57.49 CT... C PASS 0/1 122 FRAME_SHIFT HIGH None None None None None None None CDK12|0.49317645|16.18%
View combined sample_47.variant11 17 . 37627692 375.34 CA C PASS 0/1 88 FRAME_SHIFT HIGH None None None None None None None CDK12|0.49317645|16.18%

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_47.variant11 12 rs17860363
dbSNP Clinvar
51723598 669.29 A AG PASS 0/1 93 FRAME_SHIFT HIGH None 0.14557 0.14560 0.24992 None None None None None None CELA1|0.06097239|59.6%
View combined sample_47.variant11 12 rs148235680
dbSNP Clinvar
51740416 1220.85 C CG PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None CELA1|0.06097239|59.6%
View combined sample_47.variant11 12 rs370927847
dbSNP Clinvar
51740415 1220.44 A AAG PASS 0/1 93 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_47.variant11 19 rs796214581
dbSNP Clinvar
33444599 658.54 CTT C,... PASS 0/1 159 FRAME_SHIFT HIGH None None None None None None None CEP89|0.007695004|82.86%
View combined sample_47.variant11 19 rs748922730
dbSNP Clinvar
33444601 1198.64 T TG... PASS 0/2 156 FRAME_SHIFT HIGH None None None None None None None CEP89|0.007695004|82.86%

CHTF18

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_47.variant11 16 rs569617293
dbSNP Clinvar
838407 111.1 GCC GC,G PASS 1/1 4 FRAME_SHIFT HIGH None 0.55232 0.55230 None None None None None None CHTF18|0.015143539|77.06%

CLEC1A

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_47.variant11 12 rs763786699
dbSNP Clinvar
10225929 1308.64 AG A PASS 0/1 111 FRAME_SHIFT HIGH None 0.01126 None None None None None None CLEC1A|0.024263746|72.1%

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_47.variant11 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 4274.67 A AT... PASS 0/1 215 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

CNN2

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_47.variant11 19 . 1037808 330.45 CCG C DRAGENHardINDEL 0/1 413 FRAME_SHIFT HIGH None None None None None None None CNN2|0.028130209|70.37%
View combined sample_47.variant11 19 . 1037806 450.4 G GAC DRAGENHardINDEL 0/1 409 FRAME_SHIFT HIGH None None None None None None None CNN2|0.028130209|70.37%

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_47.variant11 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 2258.83 A AG PASS 1/1 122 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_47.variant11 3 rs11355796,rs398091810
dbSNP Clinvar
130190720 3807.97 AT A PASS 0/1 82 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_47.variant11 17 rs199699704
dbSNP Clinvar
46115072 417.48 C CG PASS 1/1 18 FRAME_SHIFT HIGH None 0.99960 0.99960 None None None None None None COPZ2|0.191382819|37.68%
View combined sample_47.variant11 17 rs201261614
dbSNP Clinvar
46115084 383.44 T TGG PASS 1/1 17 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_47.variant11 4 rs750778284
dbSNP Clinvar
1388350 4232.57 G GT... PASS 0/1 280 FRAME_SHIFT HIGH None None None None None None None CRIPAK|0.000914016|95.95%

CSHL1

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_47.variant11 17 rs144074043
dbSNP Clinvar
61987594 2696.98 CACCA C PASS 0/1 165 FRAME_SHIFT HIGH None 0.01098 0.01098 0.01214 None None None None None None CSHL1|0.010463875|80.53%

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_47.variant11 5 . 171201626 248.08 CAATT CT,C PASS 0/2 52 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_47.variant11 10 rs140913543
dbSNP Clinvar
126678122 88.05 GT G PASS 0/1 33 FRAME_SHIFT HIGH None None None None None None None CTBP2|0.585435328|12.33%

CYP2D6

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_47.variant11 22 rs35742686
dbSNP Clinvar
42524243 6279.73 CT C PASS 0/1 333 FRAME_SHIFT HIGH None 0.00559 0.00559 0.01264 None None None None None None CYP2D6|0.040319287|65.66%

CYP2D7P

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_47.variant11 22 rs149012039
dbSNP Clinvar
42538514 3639.59 T TC PASS 0/1 120 FRAME_SHIFT HIGH None 0.38938 0.38940 None None None None None None None

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_47.variant11 19 rs3833221,rs79756737
dbSNP Clinvar
41622107 1857.47 G GC PASS 0/1 143 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_47.variant11 17 rs66502552,rs398031306
dbSNP Clinvar
61660889 4683.44 CG C PASS 1/1 168 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_47.variant11 20 rs11467417,rs386393058
dbSNP Clinvar
126310 10302.0 ACC A PASS 0/1 283 FRAME_SHIFT HIGH None 0.43378 None None None None None None DEFB126|0.000084056|99.96%
View combined sample_47.variant11 20 rs11467497,rs397788846
dbSNP Clinvar
126155 4293.11 GCAAA G PASS 0/1 262 FRAME_SHIFT HIGH None 0.19180 None None None None None None DEFB126|0.000084056|99.96%

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_47.variant11 19 rs3830420,rs397960489
dbSNP Clinvar
49442849 976.28 T TG PASS 0/1 64 FRAME_SHIFT HIGH None 0.25479 0.25480 None None None None None None DHDH|0.020170605|74.09%

DNAH7

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_47.variant11 2 rs776264811
dbSNP Clinvar
196866534 786.14 C CT PASS 0/1 64 FRAME_SHIFT HIGH None None None None None None None DNAH7|0.112187885|48.83%

DUX4L7

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_47.variant11 4 . 190992349 40.69 C CCT PASS 0/1 4 FRAME_SHIFT HIGH None None None None None None None DUX4L7|0.000778837|96.8%

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_47.variant11 7 rs201513905,rs76859517
dbSNP Clinvar
37960262 1127.07 AA... A PASS 0/1 122 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%

EPPK1

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_47.variant11 8 rs782002079
dbSNP Clinvar
144940785 1032.02 C CAT PASS 0/1 207 FRAME_SHIFT HIGH None None None None None None None EPPK1|0.004907463|85.91%
View combined sample_47.variant11 8 rs781964811
dbSNP Clinvar
144940779 2651.79 G GA PASS 0/1 186 FRAME_SHIFT HIGH None None None None None None None EPPK1|0.004907463|85.91%
View combined sample_47.variant11 8 rs782337779
dbSNP Clinvar
144940782 1233.11 CGT C PASS 0/1 211 FRAME_SHIFT HIGH None None None None None None None EPPK1|0.004907463|85.91%
View combined sample_47.variant11 8 rs782254546
dbSNP Clinvar
144940776 2062.95 CG CC... PASS 0/2 298 FRAME_SHIFT HIGH None None None None None None None EPPK1|0.004907463|85.91%

FAM104B

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_47.variant11 X . 55172685 2413.43 A AT PASS 0/1 477 FRAME_SHIFT HIGH None None None None None None None FAM104B|0.001440975|93.08%
View combined sample_47.variant11 X . 55172688 2395.55 TG T PASS 0/1 485 FRAME_SHIFT HIGH None None None None None None None FAM104B|0.001440975|93.08%

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_47.variant11 2 rs753927903
dbSNP Clinvar
70524508 405.64 A ACAGC PASS 0/1 144 FRAME_SHIFT HIGH None None None None None None None FAM136A|0.019073327|74.63%
View combined sample_47.variant11 2 rs761817680
dbSNP Clinvar
70524511 384.57 ACTGT A PASS 0/1 150 FRAME_SHIFT HIGH None None None None None None None FAM136A|0.019073327|74.63%

FLG

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_47.variant11 1 rs770547637
dbSNP Clinvar
152284603 565.5 G GCC PASS 0/1 676 FRAME_SHIFT HIGH None None None None None None None FLG|0.000223203|99.71%
View combined sample_47.variant11 1 rs759142251
dbSNP Clinvar
152284605 539.75 ATG A PASS 0/1 682 FRAME_SHIFT HIGH None None None None None None None FLG|0.000223203|99.71%

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_47.variant11 5 rs587745355
dbSNP Clinvar
72743299 1037.25 G GGC PASS 1/1 24 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_47.variant11 9 rs773530430
dbSNP Clinvar
117366 140.86 C CCG PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%
View combined sample_47.variant11 9 rs754377138
dbSNP Clinvar
117370 82.82 GCC G PASS 0/1 28 FRAME_SHIFT HIGH None None None None None None None FOXD4|0.006056969|84.51%

FOXO6

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_47.variant11 1 . 41847872 1246.32 G GG... PASS 1/1 27 FRAME_SHIFT HIGH None None None None None None None FOXO6|0.052367987|61.96%

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_47.variant11 20 rs138867112,rs57432223,rs397938424
dbSNP Clinvar
29632674 2347.79 T TA PASS 0/1 473 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_47.variant11 3 rs144577984
dbSNP Clinvar
75714805 5238.6 TG T PASS 0/1 724 FRAME_SHIFT HIGH None None None None None None None FRG2C|0.000891988|96.07%