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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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Genes at Omim

ATXN10, CACNA1E, CAPN1, CEP164, COG7, DARS2, DEK, DNAH5, DYRK1A, EPHA2, FANCI, FGFR3, FSIP2, HSF4, HUWE1, JAK2, KCNC3, KMT2A, LIFR, LRP1, NBAS, NIPBL, OXCT1, PDE1C, PTPRJ, QRICH2, RNF168, SH3TC2, SLCO2A1, SOX10, SPTA1, SYT14, TBC1D20, TFAP2A, TRAF3, TRIP13, TRPM6, TUB, VPS13D, ZFHX2,
ATXN10 Spinocerebellar ataxia 10, 603516 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CEP164 Nephronophthisis 15, 614845 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DEK Leukemia, acute nonlymphocytic (2)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FSIP2 Spermatogenic failure 34, 618153 (3)
HSF4 Cataract 5, multiple types, 116800 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NIPBL Cornelia de Lange syndrome 1, 122470 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PDE1C ?Deafness, autosomal dominant 74, 618140 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SYT14 ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TFAP2A Branchiooculofacial syndrome, 113620 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP13 Mosaic variegated aneuploidy syndrome 3, 617598 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TUB ?Retinal dystrophy and obesity, 616188 (3)
VPS13D Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
ZFHX2 ?Marsili syndrome, 147430 (3)

Genes at Clinical Genomics Database

ATXN10, CAPN1, CEP164, COG7, CYP3A4, DARS2, DNAH5, DYRK1A, EPHA2, FANCI, FGFR3, HSF4, HUWE1, JAK2, KCNC3, KMT2A, LIFR, LRP1, NBAS, NIPBL, OXCT1, RNF168, SH3TC2, SLCO2A1, SOX10, SPTA1, SYT14, TBC1D20, TENM1, TFAP2A, TRAF3, TRPM6, TUB,
ATXN10 Spinocerebellar ataxia 10
CAPN1 Spastic paraplegia 76, autosomal recessive
CEP164 Nephronophthisis 15
COG7 Congenital disorder of glycosylation, type IIe
CYP3A4 Drug metabolism, CYP3A4-related
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DYRK1A Mental retardation, autosomal dominant 7
EPHA2 Cataract 6, multiple types
FANCI Fanconi anemia, complementation group I
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
HSF4 Cataract 5, multiple types
HUWE1 Mental retardation, X-linked syndromic, Turner type
JAK2 Thrombocythemia 3
KCNC3 Spinocerebellar ataxia 13
KMT2A Wiedemann-Steiner syndrome
LIFR Stuve-Wiedemann syndrome
LRP1 Schizophrenia
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NIPBL Cornelia de Lange syndrome 1
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
RNF168 RIDDLE syndrome
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TBC1D20 Warburg micro syndrome 4
TENM1 Microphthalmia, isolated, with coloboma 9
TFAP2A Branchiooculofacial sydrome
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRPM6 Hypomagnesemia 1, intestinal
TUB Retinal dystrophy and obesity

Genes at HGMD

Summary

Number of Variants: 141
Number of Genes: 132

Export to: CSV

ADAL

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 h8m mutect2 15 . 43632528 0.0 AG A . 0/1 0 FRAME_SHIFT HIGH None None None None None None ADAL|0.343367733|24.61%

ADCY7

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 h8m mutect2 16 . 50334766 0.0 CCT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None ADCY7|0.080648112|55.03%

AE000662.92

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 h8m mutect2 14 . 23027651 0.0 GA G . 0/1 0 FRAME_SHIFT HIGH None None None None None None None

ANKRD52

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 h8m mutect2 12 . 56638439 0.0 GA G . 0/1 0 FRAME_SHIFT HIGH None None None None None None ANKRD52|0.243975122|32.09%

APEH

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 h8m mutect2 3 . 49720317 0.0 GA G,GAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None APEH|0.758566241|6.88%

ARVCF

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 h8m mutect2 22 . 19967393 0.0 ATT A,AT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None ARVCF|0.083030294|54.56%

ATXN10

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 h8m mutect2 22 . 46098649 0.0 GAC G . 0/1 0 FRAME_SHIFT HIGH None None None None None None ATXN10|0.013184503|78.38%

BTN3A2

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 h8m mutect2 6 . 26373237 0.0 CTT C,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None BTN3A2|0.000374625|99.12%

C12orf55

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 h8m mutect2 12 . 96912825 0.0 AT A,ATT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None CFAP54|0.043483617|64.67%

C16orf96

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 h8m mutect2 16 . 4650317 0.0 CAAA C,... . 0/1/2/3 0 STOP_LOST+CODON_DELETION HIGH None None None None None None C16orf96|0.001306827|93.86%

C19orf80

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 h8m mutect2 19 . 11350352 0.0 TAA T,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None DOCK6|0.04890117|62.98%,C19orf80|0.002577141|89.53%

C1orf167

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 h8m mutect2 1 . 11826067 0.0 C CT . 0/1 0 FRAME_SHIFT HIGH None None None None None None C1orf167|0.000902211|96.01%

C6orf52

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 h8m mutect2 6 . 10687383 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None C6orf52|0.006386144|84.2%

CACNA1E

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 h8m mutect2 1 . 181745330 0.0 AT A,ATT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None CACNA1E|0.552106709|13.63%

CAPN1

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 h8m mutect2 11 . 64950329 0.0 CAAA C,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None CAPN1|0.25211602|31.37%

CASP1

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 h8m mutect2 11 . 104897056 0.0 AA... A . 0/1 0 FRAME_SHIFT HIGH None None None None None None CASP1|0.07166837|57.06%

CEP164

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 h8m mutect2 11 . 117281586 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None CEP164|0.276473275|29.41%

COG7

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 h8m mutect2 16 . 23445969 0.0 TAAA T,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None COG7|0.033337163|68.01%

CTD-3193O13.9

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 h8m mutect2 19 . 7935167 0.0 CTTTT C,... . 0/1/2/3/4/5 0 FRAME_SHIFT HIGH None None None None None None None

CWH43

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 h8m mutect2 4 . 48988459 0.0 CTT C,CT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None CWH43|0.031780385|68.7%

CYP2S1

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 h8m mutect2 19 . 41709537 0.0 GACAC G,GAC . 0/1/2 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None CYP2S1|0.00746674|83.09%

CYP3A4

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 h8m mutect2 7 . 99358536 0.0 CTTT C,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None CYP3A4|0.628903906|10.82%

DARS2

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 h8m mutect2 1 . 173826665 0.0 CT C,CTT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None DARS2|0.285539768|28.68%

DEK

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 h8m mutect2 6 . 18255993 0.0 C CT . 0/1 0 FRAME_SHIFT HIGH None None None None None None DEK|0.839668154|4.89%

DISP2

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 h8m mutect2 15 . 40659263 0.0 CA C . 0/1 0 FRAME_SHIFT HIGH None None None None None None DISP2|0.039185178|66.04%

DLG4

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 h8m mutect2 17 . 7106903 0.0 CA C,CAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None DLG4|0.305379094|27.2%

DNAH5

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 h8m mutect2 5 . 13701508 0.0 GAA G,GA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None DNAH5|0.235040337|32.91%

DYRK1A

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 h8m mutect2 21 . 38878437 0.0 TA T,... . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None DYRK1A|0.889451325|3.69%

EHD4

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 h8m mutect2 15 . 42211755 0.0 GA G . 0/1 0 FRAME_SHIFT HIGH None None None None None None EHD4|0.250712904|31.47%

EPHA2

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 h8m mutect2 1 . 16456024 0.0 C CT . 0/1 0 FRAME_SHIFT HIGH None None None None None None EPHA2|0.768915771|6.62%

FAM161B

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 h8m mutect2 14 . 74409252 0.0 AT A . 0/1 0 FRAME_SHIFT HIGH None None None None None None FAM161B|0.032647327|68.31%

FANCI

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 h8m mutect2 15 . 89850717 0.0 CT C,CTT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None FANCI|0.35466511|23.8%

FCHO1

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 h8m mutect2 19 . 17883522 0.0 AG A . 0/1 0 FRAME_SHIFT HIGH None None None None None None FCHO1|0.055324918|61.11%

FGFR3

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 h8m mutect2 4 . 1807383 0.0 CTG C . 0/1 0 FRAME_SHIFT HIGH None None None None None None FGFR3|0.776648495|6.4%

FHOD1

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 h8m mutect2 16 . 67281225 0.0 CTT C,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None FHOD1|0.10227045|50.75%,SLC9A5|0.323254189|25.95%

FRYL

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 h8m mutect2 4 . 48581044 0.0 AT A,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None FRYL|0.342095381|24.68%

FSIP2

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 h8m mutect2 2 . 186667129 0.0 G GT . 0/1 0 FRAME_SHIFT HIGH None None None None None None FSIP2|0.007364085|83.17%
View h8m mutect2 2 . 186665096 0.0 ATTT A,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None FSIP2|0.007364085|83.17%

GARNL3

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 h8m mutect2 9 . 130075784 0.0 CT C,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None GARNL3|0.403302819|20.58%

GOLGA4

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 h8m mutect2 3 . 37365799 0.0 CT C,CTT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None GOLGA4|0.080020793|55.16%

HEATR5B

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 h8m mutect2 2 . 37227764 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None HEATR5B|0.210965994|35.45%

HIP1R

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 h8m mutect2 12 . 123345682 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None HIP1R|0.107327485|49.72%

HOXC12

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 h8m mutect2 12 . 54350222 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None HOXC12|0.131576524|45.67%

HSF4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 16 . 67199496 0.0 CA... C . 0/1 0 FRAME_SHIFT HIGH None None None None None None HSF4|0.157756904|41.9%

HUWE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 X . 53602688 0.0 AAT A . 0/1 0 FRAME_SHIFT HIGH None None None None None None HUWE1|0.636259624|10.58%

JAK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 9 . 5089724 0.0 C A . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.08 0.55 None None None None None None JAK2|0.99507323|0.83%

JAKMIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 147040808 0.0 TA T,TAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None JAKMIP2|0.38627918|21.66%

KCNC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 50823907 0.0 GC G . 0/1 0 FRAME_SHIFT HIGH None None None None None None KCNC3|0.018434583|75%

KLF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 16437710 0.0 TAC T . 0/1 0 FRAME_SHIFT HIGH None None None None None None KLF2|0.054362534|61.38%

KMT2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 11 . 118375256 0.0 CTG C,... . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None KMT2A|0.474120406|17.01%

KRT27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 38938462 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None KRT27|0.075670712|56.13%

KRTAP2-1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 39203174 0.0 ATTTT A,... . 0/1/2/3/4/5 0 FRAME_SHIFT HIGH None None None None None None KRTAP2-1|0.144538289|43.8%

LAMB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 7 . 107698318 0.0 CT C,CTT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None LAMB4|0.019111904|74.62%

LIFR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 38528863 0.0 CA... C . 0/1 0 FRAME_SHIFT HIGH None None None None None None LIFR|0.085028401|54.2%

LMBRD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 36122963 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None LMBRD2|0.515445024|15.13%

LMOD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 1 . 201868806 0.0 CGT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None LMOD1|0.025847027|71.41%

LRP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 12 . 57585112 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None LRP1|0.239848879|32.46%

LRRC10B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 11 . 61276549 0.0 TA T,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None LRRC10B|0.059919935|59.88%

LRRC37A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 44377198 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None ARL17B|0.005721812|84.94%,LRRC37A|0.000771909|96.86%

LRRTM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 10 . 68686891 0.0 C CT . 0/1 0 FRAME_SHIFT HIGH None None None None None None CTNNA3|0.937206882|2.58%,LRRTM3|0.792020663|6.07%

MARCH6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 10405697 0.0 G GT . 0/1 0 FRAME_SHIFT HIGH None None None None None None MARCH6|0.225001511|33.87%

MCM7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 7 . 99696236 0.0 CTT C,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None MCM7|0.759118658|6.86%

METTL17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 14 . 21462202 0.0 TAAA T,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None METTL17|0.078186557|55.63%

MINK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 4798514 0.0 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None MINK1|0.312766522|26.63%

MUC16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 9046884 0.0 G A . 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None MUC16|0.001379523|93.47%

MUC3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 7 . 100550305 0.0 CAAAA C,... . 0/1/2/3/4 0 FRAME_SHIFT HIGH None None None None None None MUC3A|0.001683398|91.94%

NBAS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 2 . 15536579 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None NBAS|0.065334691|58.54%

NCOR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 16040648 0.0 AT A . 0/1 0 FRAME_SHIFT HIGH None None None None None None NCOR1|0.942283614|2.42%

NIPBL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 37027474 0.0 G GT . 0/1 0 FRAME_SHIFT HIGH None None None None None None NIPBL|0.918653114|3.01%

NISCH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 3 . 52489658 0.0 T G . 0/1 0 START_LOST HIGH MISSENSE 0.00 0.68 None None None None None None NISCH|0.147521349|43.38%

NLGN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 7318388 0.0 G T . 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None NLGN2|0.211516062|35.41%

NR4A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 12 . 52450400 0.0 C CC... . 0/1 0 FRAME_SHIFT HIGH None None None None None None NR4A1|0.640441257|10.44%

NUP153

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 6 . 17675155 0.0 GAA G,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None NUP153|0.346309412|24.4%

OR13C8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 9 . 107331689 0.0 CAA C,CA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None OR13C8|0.037816761|66.52%

OR4N2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 14 . 20295665 0.0 TA T,TAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None OR4N2|0.024591283|71.98%

OR7D4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 9324644 0.0 GA G,GAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None OR7D4|0.002332323|90.09%

OXCT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 41862760 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None OXCT1|0.313202771|26.58%

PDE1C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 7 . 32209543 0.0 GA G . 0/1 0 FRAME_SHIFT HIGH None None None None None None PDE1C|0.379555072|22.08%

PDZD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 32057804 0.0 GT G,GTT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None PDZD2|0.024990827|71.81%

PDZD8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 10 . 119049747 0.0 CA C . 0/1 0 FRAME_SHIFT HIGH None None None None None None PDZD8|0.139957953|44.4%

PHC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 1 . 33820565 0.0 CA... C,... . 0/1/2/3/4/5 0 FRAME_SHIFT HIGH None None None None None None PHC2|0.463367032|17.51%

PHLDB1

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 h8m mutect2 11 . 118498550 0.0 TA T,TAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None PHLDB1|0.221111525|34.29%

PLB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 2 . 28829417 0.0 GT G . 0/1 0 FRAME_SHIFT HIGH None None None None None None PLB1|0.018823638|74.77%

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 4511761 0.0 GAC G . 0/1 0 FRAME_SHIFT HIGH None None None None None None PLIN4|0.000829699|96.5%
View h8m mutect2 19 . 4511759 0.0 C CCA . 0/1 0 FRAME_SHIFT HIGH None None None None None None PLIN4|0.000829699|96.5%

PRDM9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 5 . 23510049 0.0 ATTTT A,... . 0/1/2/3/4/5 0 FRAME_SHIFT HIGH None None None None None None PRDM9|0.006520322|84.04%
View h8m mutect2 5 . 23526784 0.0 CA GT . 0/1 0 STOP_GAINED HIGH None None None None None None PRDM9|0.006520322|84.04%

PRKD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 19 . 47197181 0.0 C CA . 0/1 0 FRAME_SHIFT HIGH None None None None None None PRKD2|0.127014555|46.34%

PRPF4B

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 h8m mutect2 6 . 4052252 0.0 TTTG T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None PRPF4B|0.903242153|3.38%,FAM217A|0.02585392|71.39%

PTPN18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 2 . 131130788 0.0 AT A,ATT . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None PTPN18|0.008124446|82.52%

PTPRJ

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 h8m mutect2 11 . 48146719 0.0 TTG T . 0/1 0 FRAME_SHIFT HIGH None None None None None None PTPRJ|0.001744449|91.7%

QRICH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 17 . 74289520 0.0 CA C,CAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None QRICH2|0.011131714|79.95%

RASEF

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 h8m mutect2 9 . 85677591 0.0 TA T,TAA . 0/1/2 0 FRAME_SHIFT HIGH None None None None None None RASEF|0.039321415|66%

RBM24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h8m mutect2 6 . 17292217 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None RBM24|0.157407102|41.96%

RETSAT

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 h8m mutect2 2 . 85581471 0.0 CAA C,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None RETSAT|0.035873228|67.18%

RICTOR

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 h8m mutect2 5 . 38966801 0.0 AT A,... . 0/1/2/3 0 FRAME_SHIFT HIGH None None None None None None RICTOR|0.95955832|1.99%
View h8m mutect2 5 . 38942452 0.0 AT A . 0/1 0 FRAME_SHIFT HIGH None None None None None None OSMR|0.004939826|85.88%,RICTOR|0.95955832|1.99%
View h8m mutect2 5 . 38958854 0.0 TA T . 0/1 0 FRAME_SHIFT HIGH None None None None None None RICTOR|0.95955832|1.99%

RINT1

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 h8m mutect2 7 . 105204392 0.0 GGT G . 0/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None RINT1|0.179184717|39.11%

RNF168

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 h8m mutect2 3 . 196229855 0.0 AAG A . 0/1 0 FRAME_SHIFT HIGH None None None None None None RNF168|0.029704776|69.55%