Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCD4 5826 genome.wustl.edu 37 14 74753409 74753409 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 74753409 74753409 C G SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.1747 p.E583Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC AFP 174 genome.wustl.edu 37 4 74319612 74319612 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 74319612 74319612 G C SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.1783 p.E595Q 0.973 superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC AGBL3 340351 genome.wustl.edu 37 7 134800335 134800335 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 134800335 134800335 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.2479 p.P827S 0.001 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC AGPS 8540 genome.wustl.edu 37 2 178362425 178362425 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 178362425 178362425 C G SNP AGPS ENST00000264167 human ensembl 70_37 +1 known missense c.1294 p.L432V 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC AGTPBP1 23287 genome.wustl.edu 37 9 88272466 88272466 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 88272466 88272466 T C SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.949 p.N317D 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC AKAP11 11215 genome.wustl.edu 37 13 42891750 42891750 + Nonsense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 13 42891750 42891750 C T SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known nonsense c.5491 p.Q1831* 1.000 NULL NULL - no_errors AKAP11 HGNC CARF 79800 genome.wustl.edu 37 2 203807466 203807466 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 203807466 203807466 C G SNP ALS2CR8 ENST00000320443 human ensembl 70_37 +1 known missense c.82 p.L28V 0.894 NULL NULL - no_errors ALS2CR8 HGNC AP1S2 8905 genome.wustl.edu 37 X 15849592 15849592 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 15849592 15849592 C G SNP AP1S2 ENST00000479184 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AP1S2 HGNC ARFGAP1 55738 genome.wustl.edu 37 20 61919221 61919221 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 61919221 61919221 G C SNP ARFGAP1 ENST00000353546 human ensembl 70_37 +1 known missense c.1241 p.W414S 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ARRDC3 57561 genome.wustl.edu 37 5 90670952 90670952 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 90670952 90670952 G T SNP ARRDC3 ENST00000265138 human ensembl 70_37 -1 known silent c.657 p.S219 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ATN1 1822 genome.wustl.edu 37 12 7047952 7047952 + Silent SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 7047952 7047952 C A SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known silent c.2826 p.L942 0.974 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ATP13A1 57130 genome.wustl.edu 37 19 19756497 19756497 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 19756497 19756497 C T SNP ATP13A1 ENST00000357324 human ensembl 70_37 -1 known missense c.3463 p.D1155N 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ATRX 546 genome.wustl.edu 37 X 76874309 76874309 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 76874309 76874309 G T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.5413 p.H1805N 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC BAHD1 22893 genome.wustl.edu 37 15 40750915 40750915 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 40750915 40750915 G A SNP BAHD1 ENST00000416165 human ensembl 70_37 +1 known silent c.252 p.R84 0.699 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC BTBD7 55727 genome.wustl.edu 37 14 93709190 93709190 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 93709190 93709190 G A SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.2828 p.P943L 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC C12orf40 283461 genome.wustl.edu 37 12 40114701 40114701 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 40114701 40114701 C T SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known missense c.1607 p.S536L 0.001 NULL NULL - no_errors C12orf40 HGNC TMEM260 54916 genome.wustl.edu 37 14 57088329 57088329 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 57088329 57088329 T C SNP C14orf101 ENST00000261556 human ensembl 70_37 +1 known missense c.1307 p.I436T 1.000 NULL pfam_DUF2723 - no_errors C14orf101 HGNC C1orf94 84970 genome.wustl.edu 37 1 34667794 34667794 + Silent SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 34667794 34667794 C G SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known silent c.1380 p.L460 0.986 NULL NULL - no_errors C1orf94 HGNC C21orf58 54058 genome.wustl.edu 37 21 47735421 47735421 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 47735421 47735421 C T SNP C21orf58 ENST00000291691 human ensembl 70_37 -1 known silent c.411 p.L137 0.994 NULL NULL - no_errors C21orf58 HGNC C2CD4B 388125 genome.wustl.edu 37 15 62456157 62456157 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 62456157 62456157 G A SNP C2CD4B ENST00000380392 human ensembl 70_37 -1 known missense c.1027 p.R343C 0.272 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD4B HGNC CARD8 22900 genome.wustl.edu 37 19 48685630 48685631 + RNA INS - - AA TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 48685630 48685631 - AA INS CARD8 ENST00000600800 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CARD8 HGNC CDC37 11140 genome.wustl.edu 37 19 10514087 10514087 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 10514087 10514087 G A SNP CDC37 ENST00000222005 human ensembl 70_37 -1 known silent c.69 p.I23 1.000 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC CHRNB2 1141 genome.wustl.edu 37 1 154548324 154548324 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 154548324 154548324 C T SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known silent c.1425 p.I475 0.375 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC CHRNG 1146 genome.wustl.edu 37 2 233407755 233407755 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 233407755 233407755 C T SNP CHRNG ENST00000389494 human ensembl 70_37 +1 known silent c.768 p.S256 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC CMTM5 116173 genome.wustl.edu 37 14 23847620 23847620 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 23847620 23847620 G A SNP CMTM5 ENST00000339180 human ensembl 70_37 +1 known silent c.189 p.A63 0.021 NULL NULL - no_errors CMTM5 HGNC COL11A1 1301 genome.wustl.edu 37 1 103440391 103440391 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 103440391 103440391 G T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.2839 p.P947T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC CROCC 9696 genome.wustl.edu 37 1 17282522 17282522 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 17282522 17282522 G A SNP CROCC ENST00000375541 human ensembl 70_37 +1 known silent c.3735 p.Q1245 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC CRYBA2 1412 genome.wustl.edu 37 2 219855001 219855001 + Silent SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 219855001 219855001 C A SNP CRYBA2 ENST00000295728 human ensembl 70_37 -1 known silent c.567 p.L189 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC DBC1 0 genome.wustl.edu 37 9 121929686 121929686 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 121929686 121929686 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.1962 p.D654 0.920 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC DDHD2 23259 genome.wustl.edu 37 8 38090703 38090703 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 38090703 38090703 C T SNP DDHD2 ENST00000397166 human ensembl 70_37 +1 known missense c.191 p.S64L 1.000 pfam_WWE-dom,pfscan_WWE-dom pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102493773 102493773 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 102493773 102493773 G C SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.8940 p.L2980F 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103025519 103025519 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 103025519 103025519 C T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.3554 p.S1185L 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENPEP 2028 genome.wustl.edu 37 4 111452388 111452388 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 111452388 111452388 G C SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.1762 p.D588H 0.838 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000184909 0 genome.wustl.edu 37 1 178514730 178514730 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 178514730 178514730 C T SNP ENSG00000184909 ENST00000367636 human ensembl 70_37 +1 known missense c.116 p.S39F 0.002 NULL NULL - no_errors C1ORF220 Uniprot_genename ENSG00000213228 0 genome.wustl.edu 37 17 58511801 58511801 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 58511801 58511801 C T SNP ENSG00000213228 ENST00000588627 human ensembl 70_37 -1 known rna NULL NULL 0.175 - - - no_errors RP11-371B4.2 Clone_based_vega_gene ENSG00000255404 0 genome.wustl.edu 37 11 65563417 65563417 + RNA SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 65563417 65563417 G T SNP ENSG00000255404 ENST00000531155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-770G2.5 Clone_based_vega_gene DMTN 2039 genome.wustl.edu 37 8 21929890 21929890 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 21929890 21929890 G T SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known nonsense c.658 p.E220* 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC DMTN 2039 genome.wustl.edu 37 8 21929950 21929950 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 21929950 21929950 G C SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known missense c.718 p.E240Q 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC EPHA4 2043 genome.wustl.edu 37 2 222298944 222298944 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 222298944 222298944 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.2414 p.S805N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ETV5 2119 genome.wustl.edu 37 3 185774866 185774866 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 185774866 185774866 C T SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known missense c.1333 p.E445K 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC FAM126B 285172 genome.wustl.edu 37 2 201846414 201846414 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 201846414 201846414 G A SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known missense c.1172 p.S391F 0.616 NULL pfam_Hyccin - no_errors FAM126B HGNC FAM71C 196472 genome.wustl.edu 37 12 100042400 100042400 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 100042400 100042400 C G SNP FAM71C ENST00000324341 human ensembl 70_37 +1 known missense c.448 p.L150V 0.602 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71C HGNC FAM71E2 284418 genome.wustl.edu 37 19 55873665 55873665 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 55873665 55873665 G C SNP FAM71E2 ENST00000424985 human ensembl 70_37 -1 novel missense c.512 p.A171G 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC FANCB 2187 genome.wustl.edu 37 X 14863270 14863270 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 14863270 14863270 T C SNP FANCB ENST00000324138 human ensembl 70_37 -1 known missense c.1635 p.I545M 0.051 NULL NULL - no_errors FANCB HGNC FASTKD5 60493 genome.wustl.edu 37 20 3129658 3129658 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 3129658 3129658 G A SNP FASTKD5 ENST00000380266 human ensembl 70_37 -1 known missense c.59 p.S20F 0.028 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC FBXW7 55294 genome.wustl.edu 37 4 153245393 153245393 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 4 153245393 153245393 C G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1798 p.D600H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FCHO2 115548 genome.wustl.edu 37 5 72332992 72332992 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 72332992 72332992 G A SNP FCHO2 ENST00000341845 human ensembl 70_37 +1 known silent c.864 p.K288 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC FGD5P1 100132526 genome.wustl.edu 37 3 13976068 13976068 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 13976068 13976068 G A SNP FGD5P1 ENST00000502451 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors FGD5P1 HGNC FUT6 2528 genome.wustl.edu 37 19 5832556 5832556 + Missense_Mutation SNP T T A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 5832556 5832556 T A SNP FUT6 ENST00000592563 human ensembl 70_37 -1 known missense c.23 p.K8M 0.417 NULL pfam_Glyco_trans_10 - no_errors FUT6 HGNC GBX2 2637 genome.wustl.edu 37 2 237074513 237074513 + RNA SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 237074513 237074513 G T SNP GBX2 ENST00000465889 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors GBX2 HGNC GPR98 84059 genome.wustl.edu 37 5 90087011 90087011 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 90087011 90087011 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.14365 p.R4789W 0.999 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRIK5 2901 genome.wustl.edu 37 19 42569373 42569373 + Splice_Site SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 42569373 42569373 A G SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known splice_site c.244+2 e2+2 1.000 - - - no_errors GRIK5 HGNC HEATR5A 25938 genome.wustl.edu 37 14 31774366 31774366 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 31774366 31774366 C A SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known nonsense c.4966 p.E1656* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC HELZ2 85441 genome.wustl.edu 37 20 62202569 62202569 + RNA SNP A A C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62202569 62202569 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors HELZ2 HGNC HOMER1 9456 genome.wustl.edu 37 5 78742913 78742913 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 78742913 78742913 G A SNP HOMER1 ENST00000334082 human ensembl 70_37 -1 known missense c.350 p.S117L 1.000 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER1 HGNC HPRT1 3251 genome.wustl.edu 37 X 133609305 133609305 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 133609305 133609305 G A SNP HPRT1 ENST00000298556 human ensembl 70_37 +1 known missense c.229 p.D77N 1.000 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors HPRT1 HGNC HSD3B1 3283 genome.wustl.edu 37 1 120056573 120056573 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 120056573 120056573 G T SNP HSD3B1 ENST00000235547 human ensembl 70_37 +1 known nonsense c.433 p.E145* 0.996 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC IFT57 55081 genome.wustl.edu 37 3 107932819 107932819 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 107932819 107932819 C T SNP IFT57 ENST00000264538 human ensembl 70_37 -1 known missense c.544 p.D182N 1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC IGSF8 93185 genome.wustl.edu 37 1 160062257 160062257 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 160062257 160062257 C T SNP IGSF8 ENST00000314485 human ensembl 70_37 -1 known missense c.1541 p.G514E 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF8 HGNC IPO7 10527 genome.wustl.edu 37 11 9424778 9424778 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 9424778 9424778 C T SNP IPO7 ENST00000533680 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors IPO7 HGNC IPO7 10527 genome.wustl.edu 37 11 9450716 9450716 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 9450716 9450716 C G SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.1564 p.Q522E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ISLR 3671 genome.wustl.edu 37 15 74467327 74467327 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 74467327 74467327 C T SNP ISLR ENST00000249842 human ensembl 70_37 +1 known missense c.128 p.S43F 0.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like - no_errors ISLR HGNC KCNJ6 3763 genome.wustl.edu 37 21 39086857 39086857 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 39086857 39086857 C T SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known silent c.603 p.E201 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC KCNQ1 3784 genome.wustl.edu 37 11 2797249 2797249 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 2797249 2797249 C T SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC KDM2B 84678 genome.wustl.edu 37 12 121880462 121880462 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 121880462 121880462 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.2782 p.E928K 0.985 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC KIAA0754 643314 genome.wustl.edu 37 1 39876478 39876478 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 39876478 39876478 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.133 p.H45Y 0.985 NULL NULL - no_errors KIAA0754 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39877325 39877325 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 39877325 39877325 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.980 p.S327L 1.000 NULL NULL - no_errors KIAA0754 HGNC KRTAP4-8 728224 genome.wustl.edu 37 17 39254141 39254141 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 39254141 39254141 G A SNP KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known missense c.196 p.R66C 0.001 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC LOC101060360 101060360 genome.wustl.edu 37 16 11556106 11556106 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 11556106 11556106 C T SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known silent c.57 p.A19 0.909 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene LRP6 4040 genome.wustl.edu 37 12 12318043 12318043 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 12318043 12318043 G C SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.1732 p.L578V 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140984602 140984602 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 140984602 140984602 C G SNP MAGEC3 ENST00000536088 human ensembl 70_37 +1 known missense c.164 p.S55C 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAP3K5 4217 genome.wustl.edu 37 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 137041602 137041602 G C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.574 p.L192V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC MARK2 2011 genome.wustl.edu 37 11 63668148 63668148 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 63668148 63668148 G C SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.886 p.E296Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC MARK2 2011 genome.wustl.edu 37 11 63668149 63668149 + Missense_Mutation SNP A A T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 63668149 63668149 A T SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.887 p.E296V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC MAS1 4142 genome.wustl.edu 37 6 160328132 160328132 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 160328132 160328132 G C SNP MAS1 ENST00000252660 human ensembl 70_37 +1 known missense c.145 p.E49Q 0.881 pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC MEGF8 1954 genome.wustl.edu 37 19 42880215 42880215 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 42880215 42880215 C G SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.7826 p.S2609W 1.000 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC METTL5 29081 genome.wustl.edu 37 2 170668947 170668947 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 170668947 170668947 G C SNP METTL5 ENST00000410097 human ensembl 70_37 -1 putative missense c.611 p.A204G 0.000 NULL pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_RNA_cap_Gua-N2-MeTrfase,pfam_Methyltransf_11 - no_errors METTL5 HGNC MICA 100507436 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 31380161 31380161 G - DEL MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC MKL1 57591 genome.wustl.edu 37 22 40816412 40816412 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 40816412 40816412 C T SNP MKL1 ENST00000355630 human ensembl 70_37 -1 known missense c.1050 p.M350I 1.000 pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL1 HGNC MOCS1 4337 genome.wustl.edu 37 6 39883833 39883833 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 39883833 39883833 C G SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.562 p.E188Q 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MSH2 4436 genome.wustl.edu 37 2 47630504 47630504 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 47630504 47630504 C G SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.174 p.F58L 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC MTHFR 4524 genome.wustl.edu 37 1 11861360 11861360 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 11861360 11861360 C T SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known missense c.456 p.M152I 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC MTMR3 8897 genome.wustl.edu 37 22 30415483 30415483 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 30415483 30415483 G C SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known missense c.1835 p.R612T 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC MUC4 4585 genome.wustl.edu 37 3 195515215 195515215 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 195515215 195515215 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3236 p.S1079Y 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC NAA60 79903 genome.wustl.edu 37 16 3533366 3533366 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 3533366 3533366 C T SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.341 p.S114F 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC NAA60 79903 genome.wustl.edu 37 16 3533522 3533522 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 3533522 3533522 C G SNP NAA60 ENST00000407558 human ensembl 70_37 +1 known missense c.497 p.S166C 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC NCF1 653361 genome.wustl.edu 37 7 74191962 74191962 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 74191962 74191962 G A SNP NCF1 ENST00000443956 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors NCF1 HGNC NFATC2 4773 genome.wustl.edu 37 20 50139798 50139798 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 50139798 50139798 C T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.982 p.D328N 0.992 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC NISCH 11188 genome.wustl.edu 37 3 52514409 52514409 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 52514409 52514409 C T SNP NISCH ENST00000488380 human ensembl 70_37 +1 known silent c.1626 p.F542 0.019 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC NRXN3 9369 genome.wustl.edu 37 14 79454458 79454458 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 79454458 79454458 C T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known missense c.3203 p.S1068F 0.999 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC NUP107 57122 genome.wustl.edu 37 12 69083385 69083385 + Nonsense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 12 69083385 69083385 C G SNP NUP107 ENST00000229179 human ensembl 70_37 +1 known nonsense c.173 p.S58* 1.000 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24886651 24886651 + Nonstop_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 24886651 24886651 G T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known nonstop c.5696 p.*1899L 0.992 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OR2J1 442185 genome.wustl.edu 37 6 29069355 29069355 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 29069355 29069355 C T SNP OR2J1 ENST00000377171 human ensembl 70_37 +1 known silent c.636 p.L212 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC OXSR1 9943 genome.wustl.edu 37 3 38265307 38265307 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 38265307 38265307 G A SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.605 p.R202H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC P2RY10 27334 genome.wustl.edu 37 X 78216864 78216864 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 78216864 78216864 G A SNP P2RY10 ENST00000171757 human ensembl 70_37 +1 known missense c.847 p.A283T 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY10 HGNC PCDH19 57526 genome.wustl.edu 37 X 99662118 99662118 + Missense_Mutation SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 99662118 99662118 A G SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.1478 p.V493A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC PCNT 5116 genome.wustl.edu 37 21 47783729 47783729 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 47783729 47783729 C A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.2489 p.S830* 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC PCSK1 5122 genome.wustl.edu 37 5 95761604 95761604 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 95761604 95761604 C G SNP PCSK1 ENST00000311106 human ensembl 70_37 -1 known missense c.316 p.E106Q 0.997 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144874776 144874776 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 144874776 144874776 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.4832 p.S1611C 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDIA4 9601 genome.wustl.edu 37 7 148702242 148702242 + Missense_Mutation SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 148702242 148702242 A G SNP PDIA4 ENST00000286091 human ensembl 70_37 -1 known missense c.1513 p.F505L 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC PDILT 204474 genome.wustl.edu 37 16 20380946 20380946 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 20380946 20380946 G T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known silent c.984 p.V328 0.058 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PHF20L1 51105 genome.wustl.edu 37 8 133837520 133837520 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 133837520 133837520 G T SNP PHF20L1 ENST00000395386 human ensembl 70_37 +1 putative nonsense c.1648 p.E550* 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC PHKB 5257 genome.wustl.edu 37 16 47630322 47630322 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 47630322 47630322 G A SNP PHKB ENST00000299167 human ensembl 70_37 +1 known missense c.1243 p.D415N 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC PINX1 54984 genome.wustl.edu 37 8 10623360 10623360 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 10623360 10623360 C T SNP PINX1 ENST00000314787 human ensembl 70_37 -1 known missense c.538 p.E180K 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC PLCL1 5334 genome.wustl.edu 37 2 198949616 198949616 + Nonsense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 198949616 198949616 C T SNP PLCL1 ENST00000428675 human ensembl 70_37 +1 known nonsense c.1375 p.R459* 0.998 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC PLCL2 23228 genome.wustl.edu 37 3 17052521 17052521 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 17052521 17052521 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known silent c.1305 p.L435 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC PLEKHD1 400224 genome.wustl.edu 37 14 69967306 69967306 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 69967306 69967306 C G SNP PLEKHD1 ENST00000322564 human ensembl 70_37 +1 known missense c.256 p.L86V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC PLXNA1 5361 genome.wustl.edu 37 3 126733114 126733114 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 126733114 126733114 G A SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known missense c.2500 p.E834K 0.996 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC POLR1C 9533 genome.wustl.edu 37 6 43489001 43489001 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 43489001 43489001 G A SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.1004 p.R335H 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC POMGNT1 55624 genome.wustl.edu 37 1 46657736 46657736 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 46657736 46657736 C T SNP POMGNT1 ENST00000463030 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors POMGNT1 HGNC PTK6 5753 genome.wustl.edu 37 20 62163883 62163883 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62163883 62163883 G A SNP PTK6 ENST00000217185 human ensembl 70_37 -1 known silent c.828 p.L276 0.971 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC PXDNL 137902 genome.wustl.edu 37 8 52721742 52721742 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 52721742 52721742 G T SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.163 p.L55I 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC RAB40AL 282808 genome.wustl.edu 37 X 102192891 102192891 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 102192891 102192891 C T SNP RAB40AL ENST00000218249 human ensembl 70_37 +1 known silent c.645 p.P215 1.000 pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC RECK 8434 genome.wustl.edu 37 9 36065608 36065608 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 36065608 36065608 G T SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.392 p.R131I 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC RELN 5649 genome.wustl.edu 37 7 103138565 103138565 + Silent SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 103138565 103138565 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.8802 p.V2934 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RFX2 5990 genome.wustl.edu 37 19 6176278 6176278 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 6176278 6176278 C T SNP RFX2 ENST00000589712 human ensembl 70_37 -1 known rna NULL NULL 0.475 - - - no_errors RFX2 HGNC RFX2 5990 genome.wustl.edu 37 19 6176353 6176353 + RNA SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 6176353 6176353 C A SNP RFX2 ENST00000585324 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RFX2 HGNC RINT1 60561 genome.wustl.edu 37 7 105177056 105177056 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 105177056 105177056 G T SNP RINT1 ENST00000257700 human ensembl 70_37 +1 known nonsense c.133 p.E45* 0.001 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC RSPH6A 81492 genome.wustl.edu 37 19 46313965 46313965 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 46313965 46313965 C T SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.784 p.D262N 0.995 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC RUSC1 23623 genome.wustl.edu 37 1 155295080 155295080 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 155295080 155295080 G A SNP RUSC1 ENST00000462780 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC SCN2A 6326 genome.wustl.edu 37 2 166165187 166165187 + Missense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 166165187 166165187 C A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.488 p.T163K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCUBE1 80274 genome.wustl.edu 37 22 43608440 43608440 + Nonsense_Mutation SNP C C A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 43608440 43608440 C A SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known nonsense c.2212 p.E738* 1.000 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC SEPHS2 22928 genome.wustl.edu 37 16 30455997 30455997 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 30455997 30455997 G A SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.881 p.A294V 0.997 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC SFTPC 6440 genome.wustl.edu 37 8 22017204 22017204 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 8 22017204 22017204 C G SNP SFTPC ENST00000524318 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors SFTPC HGNC SLC22A24 283238 genome.wustl.edu 37 11 62886681 62886681 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 62886681 62886681 C G SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known missense c.633 p.M211I 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62886759 62886759 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 62886759 62886759 G C SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known missense c.555 p.I185M 0.028 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC SLC27A4 10999 genome.wustl.edu 37 9 131118060 131118060 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 131118060 131118060 G C SNP SLC27A4 ENST00000300456 human ensembl 70_37 +1 known missense c.1759 p.E587Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC SLC37A1 54020 genome.wustl.edu 37 21 43959704 43959704 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 43959704 43959704 G C SNP SLC37A1 ENST00000352133 human ensembl 70_37 +1 known missense c.433 p.G145R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC SLC4A7 9497 genome.wustl.edu 37 3 27427470 27427470 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 27427470 27427470 G A SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known silent c.3405 p.F1135 0.998 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC SLC4A7 9497 genome.wustl.edu 37 3 27427485 27427485 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 27427485 27427485 G T SNP SLC4A7 ENST00000454389 human ensembl 70_37 -1 known silent c.3390 p.L1130 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC SNAPC4 6621 genome.wustl.edu 37 9 139292753 139292753 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 139292753 139292753 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.128 p.A43G 0.842 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SON 6651 genome.wustl.edu 37 21 34922769 34922769 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 21 34922769 34922769 C G SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.1232 p.T411S 0.862 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC SPESP1 246777 genome.wustl.edu 37 15 69238196 69238196 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 15 69238196 69238196 C T SNP SPESP1 ENST00000310673 human ensembl 70_37 +1 known missense c.323 p.P108L 0.000 NULL NULL - no_errors SPESP1 HGNC SPIN3 169981 genome.wustl.edu 37 X 57021344 57021344 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 57021344 57021344 G A SNP SPIN3 ENST00000374919 human ensembl 70_37 -1 known missense c.37 p.R13W 0.872 NULL pfam_Spin_Ssty - no_errors SPIN3 HGNC SPNS2 124976 genome.wustl.edu 37 17 4439674 4439674 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 4439674 4439674 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known silent c.1560 p.L520 0.083 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC SPTA1 6708 genome.wustl.edu 37 1 158582665 158582665 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 158582665 158582665 T C SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.7076 p.N2359S 0.773 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SSPO 23145 genome.wustl.edu 37 7 149481978 149481978 + RNA SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 149481978 149481978 C T SNP SSPO ENST00000262089 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors SSPO HGNC STK33 65975 genome.wustl.edu 37 11 8414079 8414079 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 11 8414079 8414079 G A SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.1523 p.S508F 0.147 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC SUPT16H 11198 genome.wustl.edu 37 14 21821725 21821725 + Splice_Site SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 21821725 21821725 C G SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known splice_site c.2921-1 e25-1 1.000 - - - no_errors SUPT16H HGNC SYF2 25949 genome.wustl.edu 37 1 25551554 25551554 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 25551554 25551554 G A SNP SYF2 ENST00000236273 human ensembl 70_37 -1 known missense c.505 p.H169Y 1.000 pfam_mRNA_splic_SYF2 pfam_mRNA_splic_SYF2 - no_errors SYF2 HGNC SYNE3 161176 genome.wustl.edu 37 14 95932372 95932372 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 14 95932372 95932372 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.523 p.E175Q 1.000 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC TAGAP 117289 genome.wustl.edu 37 6 159457435 159457435 + Silent SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 6 159457435 159457435 C T SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known silent c.1620 p.P540 0.017 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC TCN2 6948 genome.wustl.edu 37 22 31006924 31006924 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 31006924 31006924 G A SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known missense c.131 p.R44Q 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC TNK2 10188 genome.wustl.edu 37 3 195594534 195594534 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 195594534 195594534 C T SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.2824 p.E942K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC TOP3A 7156 genome.wustl.edu 37 17 18181558 18181558 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 17 18181558 18181558 G A SNP TOP3A ENST00000321105 human ensembl 70_37 -1 known missense c.2258 p.S753L 0.505 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC UBAP2 55833 genome.wustl.edu 37 9 33922757 33922757 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 33922757 33922757 G C SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.3192 p.F1064L 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC UCKL1 54963 genome.wustl.edu 37 20 62572366 62572366 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 20 62572366 62572366 G C SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known missense c.1053 p.I351M 1.000 NULL pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC UFSP1 402682 genome.wustl.edu 37 7 100486556 100486556 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 7 100486556 100486556 G T SNP UFSP1 ENST00000388761 human ensembl 70_37 -1 known missense c.337 p.Q113K 0.138 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP1 HGNC USP51 158880 genome.wustl.edu 37 X 55514505 55514505 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c X 55514505 55514505 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.868 p.D290N 1.000 pfam_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC VPREB1 7441 genome.wustl.edu 37 22 22599619 22599619 + Missense_Mutation SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 22 22599619 22599619 C G SNP VPREB1 ENST00000403807 human ensembl 70_37 +1 known missense c.308 p.S103C 0.641 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VPREB1 HGNC VPS8 23355 genome.wustl.edu 37 3 184550510 184550510 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 184550510 184550510 G C SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known missense c.256 p.D86H 1.000 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC WWP2 11060 genome.wustl.edu 37 16 69974027 69974027 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 16 69974027 69974027 G A SNP WWP2 ENST00000544162 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WWP2 HGNC ZBTB47 92999 genome.wustl.edu 37 3 42700666 42700666 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 42700666 42700666 G C SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.819 p.Q273H 0.863 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ZBTB47 92999 genome.wustl.edu 37 3 42701164 42701164 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 42701164 42701164 G C SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known missense c.1317 p.Q439H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ZCCHC11 23318 genome.wustl.edu 37 1 52926861 52926861 + Missense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 1 52926861 52926861 G T SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known missense c.3266 p.A1089E 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ZEB2 9839 genome.wustl.edu 37 2 145157027 145157027 + Missense_Mutation SNP T T C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 2 145157027 145157027 T C SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.1727 p.N576S 0.869 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZFR 51663 genome.wustl.edu 37 5 32355672 32355672 + RNA DEL T T - TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 5 32355672 32355672 T - DEL ZFR ENST00000510369 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZFR HGNC ZNF385D 79750 genome.wustl.edu 37 3 22414020 22414020 + RNA SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 3 22414020 22414020 G A SNP ZNF385D ENST00000494108 human ensembl 70_37 -1 known rna NULL NULL 0.178 - - - no_errors ZNF385D HGNC ZNF440 126070 genome.wustl.edu 37 19 11942452 11942452 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 11942452 11942452 G C SNP ZNF440 ENST00000304060 human ensembl 70_37 +1 known missense c.461 p.R154T 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ZNF462 58499 genome.wustl.edu 37 9 109691939 109691939 + Nonsense_Mutation SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 109691939 109691939 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known nonsense c.5746 p.E1916* 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF611 81856 genome.wustl.edu 37 19 53208777 53208777 + Nonsense_Mutation SNP T T A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 53208777 53208777 T A SNP ZNF611 ENST00000319783 human ensembl 70_37 -1 known nonsense c.1531 p.K511* 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ZNF773 374928 genome.wustl.edu 37 19 58016764 58016764 + Silent SNP G G T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58016764 58016764 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known silent c.258 p.L86 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ZNF813 126017 genome.wustl.edu 37 19 53993829 53993829 + Missense_Mutation SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 53993829 53993829 G A SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known missense c.343 p.E115K 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC ZNF814 730051 genome.wustl.edu 37 19 58400174 58400174 + RNA SNP A A G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58400174 58400174 A G SNP ZNF814 ENST00000594629 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF814 HGNC ZNF883 169834 genome.wustl.edu 37 9 115760342 115760342 + RNA SNP C C G TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 9 115760342 115760342 C G SNP ZNF883 ENST00000427548 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF883 HGNC ZSCAN4 201516 genome.wustl.edu 37 19 58187558 58187558 + Silent SNP G G A TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7ae530e-5804-4f7e-9618-d2c8d5b7d8c9 d4ff9f4c-d8b8-4842-98a8-9e36caab1e3c 19 58187558 58187558 G A SNP ZSCAN4 ENST00000318203 human ensembl 70_37 +1 known silent c.45 p.E15 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC