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 at Omim

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, MAD1L1, NME8, NPC1L1, PEX1, PLOD3, PMS2, PTPN12, RELN, SFRP4, TAF6, TFR2, WDR60,
AP1S1 MEDNIK syndrome, 609313 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FAM20C Raine syndrome, 259775 (3)
FLNC Myopathy, myofibrillar, 5, 609524 (3)
Myopathy, distal, 4, 614065 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Cardiomyopathy, familial hypertrophic, 26 (3)
GARS Neuropathy, distal hereditary motor, type VA, 600794 (3)
Charcot-Marie-Tooth disease, type 2D, 601472 (3)
HOXA13 Hand-foot-uterus syndrome, 140000 (3)
Guttmacher syndrome, 176305 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MAD1L1 Prostate cancer, somatic, 176807 (3)
Lymphoma, somatic (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Heimler syndrome 1, 234580 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN {Epilepsy, familial temporal lobe, 7}, 616436 (3)
Lissencephaly 2 (Norman-Roberts type), 257320 (3)
SFRP4 Pyle disease, 265900 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)

Genes at Clinical Genomics Database

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, NME8, NPC1L1, PEX1, PLOD3, PMS2, RELN, SERPINE1, TFR2, WDR60,
AP1S1 MEDNIK syndrome
DNAH11 Ciliary dyskinesia, primary, 7
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
LAMB1 Lissencephaly 5
NME8 Ciliary dyskinesia, primary, 6
NPC1L1 Ezetimibe, nonresponse to
PEX1 Heimler syndrome 1
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
SERPINE1 Plasminogen activator inhibitor-1 deficiency
TFR2 Hemochromatosis, type 3
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 5928
Number of Genes: 73

Export to: CSV

ABCB8

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 23 recalibrated filtered postcgp gqfiltered 7 . 150741073 12026.59 T G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150742412 96258.55 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150737384 284.24 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

AEBP1

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 23 recalibrated filtered postcgp gqfiltered 7 . 44146187 945.79 GC G PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44146206 927.5 C G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44149675 5004.29 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44149722 41090.52 A G PASS 0/1 70 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.99 None None None None None None None

AGFG2

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 23 recalibrated filtered postcgp gqfiltered 7 . 100159989 63342.84 G A PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.01 2.67 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100160513 190128.25 T G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.24 0.62 None None None None None None None

ANKIB1

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 23 recalibrated filtered postcgp gqfiltered 7 . 92015951 4050.71 A G PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AP1S1

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 23 recalibrated filtered postcgp gqfiltered 7 . 100797869 20.35 T C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.00 None None None None None None None

ARPC1B

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 23 recalibrated filtered postcgp gqfiltered 7 . 98990367 6828.28 A G PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 None None None None None None None

ASIC3

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 23 recalibrated filtered postcgp gqfiltered 7 . 150749732 3601.54 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150749704 2971.33 G A PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ATP5J2-PTCD1

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 23 recalibrated filtered postcgp gqfiltered 7 . 99027254 197.82 C T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.64 None None None None None None None

BAZ1B

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 23 recalibrated filtered postcgp gqfiltered 7 . 72925141 429.06 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 1.86 None None None None None None None

C7orf60

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 23 recalibrated filtered postcgp gqfiltered 7 . 112461852 11995.48 ATT AT,A PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None

C7orf72

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 23 recalibrated filtered postcgp gqfiltered 7 . 50136085 2610.78 C T PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 50135839 617.92 C T PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.06 None None None None None None None

CADPS2

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 23 recalibrated filtered postcgp gqfiltered 7 . 122303588 26773.48 A G PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 122303578 107.63 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CAMK2B

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 23 recalibrated filtered postcgp gqfiltered 7 . 44284500 524.24 A G PASS 1/1 3 None None None None None None None None None None

CCDC136

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 23 recalibrated filtered postcgp gqfiltered 7 . 128455822 2855.11 A G PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128455789 296.35 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128455825 854.71 C G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.03 None None None None None None None

CCL24

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 23 recalibrated filtered postcgp gqfiltered 7 . 75442739 379.26 G A PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 75441167 171678.9 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91 0.01 None None None None None None None

CNOT4

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 23 recalibrated filtered postcgp gqfiltered 7 . 135080396 790.24 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CYP2W1

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 23 recalibrated filtered postcgp gqfiltered 7 . 1028439 173.1 C CG PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1022891 4372.82 G A PASS 1/1 108 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1022963 411.99 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1028225 21.18 G A PASS 0/1 9 None None None None None None None None None None

DNAH11

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 23 recalibrated filtered postcgp gqfiltered 7 . 21906222 36181.36 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 21600787 348663.97 A G PASS 1/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE -0.26 None None rs10224537 2 not_specified 1 None

EIF3B

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 23 recalibrated filtered postcgp gqfiltered 7 . 2394834 580.5 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2394887 15857.67 G A PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.00 None None None None None None None

FAM115C

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 23 recalibrated filtered postcgp gqfiltered 7 . 143400227 4370.35 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

FAM20C

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 23 recalibrated filtered postcgp gqfiltered 7 rs538469200
dbSNP
193399 623.85 C A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.01 0.53 3.65 None None None None None None None

FAM71F2

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 23 recalibrated filtered postcgp gqfiltered 7 . 128317840 15869.61 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

FBXL18

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 23 recalibrated filtered postcgp gqfiltered 7 . 5529696 7178.93 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None None None None None None None

FBXO24

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 23 recalibrated filtered postcgp gqfiltered 7 . 100198449 49155.19 T C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.40 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100189341 26295.19 G T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.40 None None None None None None None

FIS1

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 23 recalibrated filtered postcgp gqfiltered 7 . 100887296 101380.51 C T PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

FLNC

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 23 recalibrated filtered postcgp gqfiltered 7 . 128477289 2956.79 A C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128488079 16925.96 T C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.17 None None None None None None None

FOXK1

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 23 recalibrated filtered postcgp gqfiltered 7 . 4801839 19479.95 T C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.61 -1.87 None None None None None None None

GAL3ST4

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 23 recalibrated filtered postcgp gqfiltered 7 . 99758026 657.63 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61 0.08 None None None None None None None

GARS

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 23 recalibrated filtered postcgp gqfiltered 7 . 30655586 25078.92 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.04 None None None None None None None

GSAP

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 23 recalibrated filtered postcgp gqfiltered 7 . 77003419 59992.12 C G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.01 None None None None None None None

HOXA13

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 23 recalibrated filtered postcgp gqfiltered 7 . 27239572 963.6 T G PASS 1/1 31 SYNONYMOUS_CODING LOW None None None None None None None

HTR5A

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 23 recalibrated filtered postcgp gqfiltered 7 . 154875918 12603.44 A G PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KIAA1549

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 23 recalibrated filtered postcgp gqfiltered 7 . 138583818 36182.57 A G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138597161 2105.66 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 1.00 None None None None None None None

LAMB1

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 23 recalibrated filtered postcgp gqfiltered 7 . 107577588 50735.55 T C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.63 None None None None None None None

LUC7L2

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 23 recalibrated filtered postcgp gqfiltered 7 . 139060862 580.63 A G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.93 None None None None None None None

MAD1L1

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 23 recalibrated filtered postcgp gqfiltered 7 . 2269720 24026.93 G A PASS 0/1 2 SYNONYMOUS_CODING LOW None None None None None None None

MCM7

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 23 recalibrated filtered postcgp gqfiltered 7 . 99695852 49521.97 T A PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99696236 9700.61 CT CT... PASS 0/1 4 FRAME_SHIFT HIGH None None None None None None None

MGAM

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 23 recalibrated filtered postcgp gqfiltered 7 . 141778774 120931.77 G C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40 0.43 -0.95 None None None None None None None

MICALL2

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 23 recalibrated filtered postcgp gqfiltered 7 . 1498903 3303.14 A G PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1480310 14115.24 A T PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1480256 11513.2 C G PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1479586 380.16 G A PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MPP6

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 23 recalibrated filtered postcgp gqfiltered 7 . 24718819 5958.57 CTA C PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 24718946 30730.77 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

MUC12

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 23 recalibrated filtered postcgp gqfiltered 7 . 100643148 118989.34 A T PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97 None None None None None None None

MUC17

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 23 recalibrated filtered postcgp gqfiltered 7 . 100684145 31022.58 T C PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100686887 107122.34 TG T PASS 0/1 37 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100685638 8844.86 C T PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100683273 145507.41 A C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

NME8

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 23 recalibrated filtered postcgp gqfiltered 7 . 37907356 7319.84 A T PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None

NPC1L1

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 23 recalibrated filtered postcgp gqfiltered 7 . 44573154 31998.8 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44579703 67039.47 T C PASS 0/1 56 STOP_GAINED HIGH NONSENSE None None None None None None None

NUB1

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 23 recalibrated filtered postcgp gqfiltered 7 . 151064063 14415.17 C G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

PEX1

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 23 recalibrated filtered postcgp gqfiltered 7 . 92129108 65601.69 C A PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PKD1L1

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 23 recalibrated filtered postcgp gqfiltered 7 . 47873981 95135.39 T C PASS 1/1 121 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.13 0.00 -2.72 None None None None None None None

PLOD3

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 23 recalibrated filtered postcgp gqfiltered 7 . 100855586 16510.61 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100861173 101388.07 T C PASS 1/1 140 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100854902 9403.86 A G PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.89 None None None None None None None

PMS2

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 23 recalibrated filtered postcgp gqfiltered 7 . 6038745 37480.1 A C PASS 0/1 46 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6031646 962.16 A G PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6026426 4639.13 G GC PASS 0/1 125 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6026830 63570.66 T C PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6038837 8573.6 C A PASS 0/1 7 PROTEIN_INTERACTION_LOCUS HIGH 0.23 0.04 None None None None None None None

POLM

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 23 recalibrated filtered postcgp gqfiltered 7 . 44112950 77636.66 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44112925 47866.5 A AG PASS 0/1 131 FRAME_SHIFT HIGH None None None None None None None

PTPN12

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 23 recalibrated filtered postcgp gqfiltered 7 . 77256452 113327.14 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.01 None None None None None None None

PTPRN2

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 23 recalibrated filtered postcgp gqfiltered 7 . 157369409 937.09 A G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157369374 1451.62 T C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

RABL5

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 23 recalibrated filtered postcgp gqfiltered 7 . 100959664 492321.83 G T PASS 0/1 260 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 -1.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959644 508957.83 C A PASS 0/1 263 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.00 -0.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959713 509250.83 C T PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.81 -0.58 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959714 504348.83 T C PASS 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959720 505167.83 A T PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.20 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959711 488924.83 T A PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.93 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959649 512947.83 G A PASS 0/1 267 SYNONYMOUS_CODING LOW 0.18 None None None None None None None

RAPGEF5

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 23 recalibrated filtered postcgp gqfiltered 7 . 22194195 2914.28 C A PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.82 None None None None None None None

RELN

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 23 recalibrated filtered postcgp gqfiltered 7 . 103234818 75.83 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103185579 215.91 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 7 . 105205726 4859.34 A G PASS 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None