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

ALK, BMS1, LPL, MAGI2, SLC26A5, SMAD7, TTN,
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
MAGI2 Nephrotic syndrome, type 15, 617609 (3)
SLC26A5 ?Deafness, autosomal recessive 61, 613865 (3)
SMAD7 {Colorectal cancer, susceptibility to, 3}, 612229 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)

Genes at Clinical Genomics Database

ALK, BMS1, LPL, SLC26A5, TTN,
ALK Neuroblastoma, susceptibility to, 3
BMS1 Aplasia cutis congenita, nonsyndromic
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
SLC26A5 Deafness, autosomal recessive 61
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G

Genes at HGMD

Summary

Number of Variants: 27
Number of Genes: 27

Export to: CSV
  • Page 1 of 1

ACAA1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 . 38168164 0.0 A AT... clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ACAA1|0.152807913|42.57%

ALK

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 . 30143022 0.0 G GT... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ALK|0.859785808|4.47%

ALS2CR11

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 . 202355924 0.0 G GA... clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ALS2CR11|0.003713566|87.41%

APBB1IP

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 . 26800816 0.0 C CC... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None APBB1IP|0.030225745|69.31%

BMS1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 . 43318706 0.0 G GG... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None BMS1|0.150591768|42.91%

FOXA3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 . 46375557 0.0 G GT... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None FOXA3|0.118418545|47.67%

GOLGA6L1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 15 . 22743191 0.0 A AG... t_lod_fstar;triallelic_site 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None GOLGA6L1|0.00137841|93.48%

JMY

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 8754_onol_s2_vs_onol_n_ucla TUMOR 5 . 78533392 0.0 C CC... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None JMY|0.094318926|52.27%

LPL

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 8754_onol_s2_vs_onol_n_ucla TUMOR 8 . 19809288 0.0 A AATGT t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None LPL|0.781570862|6.28%

LRR1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 14 . 50074705 0.0 A AT... clustered_events;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None LRR1|0.304739496|27.31%

MAGI2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 77998520 0.0 A AT... clustered_events;multi_event_alt_allele_in_normal;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None MAGI2|0.938878681|2.52%

MTMR7

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 8754_onol_s2_vs_onol_n_ucla TUMOR 8 . 17163358 0.0 A AT... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None MTMR7|0.118681657|47.65%

NR1I2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 . 119526100 0.0 G GT... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None NR1I2|0.113868984|48.51%

NUAK2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 . 205274453 0.0 T TA... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None NUAK2|0.067936218|57.93%

OR2T2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs113236234
dbSNP Clinvar
248617054 0.0 C CTG alt_allele_in_normal;clustered_events 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None 0.05126 None None None None None None OR2T2|0.002797378|89.04%

P2RY4

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 8754_onol_s2_vs_onol_n_ucla TUMOR X . 69479368 0.0 A AA... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None P2RY4|0.035696267|67.23%

PHRF1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 . 609628 0.0 C CA... clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None PHRF1|0.003233648|88.27%

RBM44

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 . 238725778 0.0 C CA... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None RBM44|0.004658229|86.27%

SLC22A8

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 . 62761065 0.0 G GTTCA t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None SLC22A8|0.031567183|68.77%

SLC26A5

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 103018215 0.0 T TC... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None SLC26A5|0.274187593|29.58%

SMAD7

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 8754_onol_s2_vs_onol_n_ucla TUMOR 18 . 46476230 0.0 C CA... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None SMAD7|0.992168274|1.01%

SPSB4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 . 140866104 0.0 A AA... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None SPSB4|0.225435088|33.84%

TMTC2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 . 83250944 0.0 G GG... clustered_events 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None TMTC2|0.672773237|9.29%

TTN

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 . 179560801 0.0 A AC... clustered_events;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None TTN|0.331370966|25.39%

TXNRD3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 . 126360893 0.0 A AG... PASS 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None TXNRD3|0.029007641|69.87%

ZNF101

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 . 19791017 0.0 A AA... clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ZNF101|0.001511194|92.72%

ZYX

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 143079994 0.0 A AT... t_lod_fstar 0/1 0 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ZYX|0.103578127|50.49%
  • Page 1 of 1