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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AKT3 0 genome.wustl.edu 37 1 243675669 243675669 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 243675669 243675669 T G SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.1311 p.E437D 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 tier1 - - 88 0 0.00 85 7 7.61 ALG11 0 genome.wustl.edu 37 13 52598172 52598172 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 13 52598172 52598172 C T SNP ALG11 ENST00000521508 human ensembl 74_37 +1 known silent c.306 p.T102 0.988 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 tier1 - - 109 0 0.00 102 10 8.93 APOB 0 genome.wustl.edu 37 2 21245836 21245836 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 21245836 21245836 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2683 p.A895T 0.999 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 62 0 0.00 67 7 9.46 ASXL3 0 genome.wustl.edu 37 18 31319532 31319532 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 18 31319532 31319532 T G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2164 p.L722V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 276 0 0.00 231 26 10.12 AVPR1A 0 genome.wustl.edu 37 12 63544162 63544162 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 12 63544162 63544162 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.455 p.A152V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 tier1 - - 60 0 0.00 25 7 21.21 BSN 0 genome.wustl.edu 37 3 49695569 49695569 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 3 49695569 49695569 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.8580 p.A2860 0.997 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 62 0 0.00 35 5 12.50 BTN2A3P 0 genome.wustl.edu 37 6 26422353 26422353 + RNA SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 6 26422353 26422353 C T SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors BTN2A3P HGNC ENSG00000124549 68 0 0.00 88 5 5.38 C4A 0 genome.wustl.edu 37 6 31963812 31963812 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 6 31963812 31963812 C T SNP C4A ENST00000428956 human ensembl 74_37 +1 known missense c.3311 p.S1104F 0.161 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4A HGNC ENSG00000244731 tier1 - - 33 0 0.00 31 5 13.89 CCL13 0 genome.wustl.edu 37 17 32684539 32684539 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 32684539 32684539 A C SNP CCL13 ENST00000225844 human ensembl 74_37 +1 known missense c.122 p.K41T 0.002 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL13 HGNC ENSG00000181374 tier1 - - 140 0 0.00 135 24 15.09 CCT6A 0 genome.wustl.edu 37 7 56122109 56122109 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 7 56122109 56122109 C T SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known silent c.249 p.A83 0.996 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 tier1 - - 174 0 0.00 170 38 18.27 CSMD3 0 genome.wustl.edu 37 8 113569048 113569048 + Missense_Mutation SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 8 113569048 113569048 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4178 p.L1393P 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 60 0 0.00 58 6 9.38 CYP2C19 0 genome.wustl.edu 37 10 96612638 96612638 + Silent SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 10 96612638 96612638 G A SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known silent c.1440 p.P480 0.220 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 tier1 rs28399514 - 132 0 0.00 100 7 6.54 DCAF4L1 0 genome.wustl.edu 37 4 41984321 41984321 + Missense_Mutation SNP T T C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 41984321 41984321 T C SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.512 p.V171A 0.022 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 tier1 - - 119 0 0.00 93 9 8.82 DCLRE1C 0 genome.wustl.edu 37 10 14976434 14976434 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 10 14976434 14976434 G A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 193 0 0.00 210 26 10.97 DDIT4L 0 genome.wustl.edu 37 4 101108874 101108874 + Missense_Mutation SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 101108874 101108874 A G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.542 p.L181P 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 tier1 - - 66 0 0.00 73 11 13.10 DDX27 0 genome.wustl.edu 37 20 47846808 47846808 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 20 47846808 47846808 G A SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.1046 p.R349Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 tier1 - - 56 0 0.00 47 9 16.07 DDX58 0 genome.wustl.edu 37 9 32467893 32467893 + Silent SNP T T A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 32467893 32467893 T A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known silent c.2052 p.A684 0.975 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 tier1 - - 56 0 0.00 56 5 8.20 DPP10 0 genome.wustl.edu 37 2 116497452 116497452 + Missense_Mutation SNP C C G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 116497452 116497452 C G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.847 p.Q283E 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 177 0 0.00 165 9 5.17 EFR3A 0 genome.wustl.edu 37 8 132980595 132980596 + Frame_Shift_Ins INS - - A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 8 132980595 132980596 - A INS EFR3A ENST00000254624 human ensembl 74_37 +1 known frame_shift_ins c.909_910 p.D305fs 0.999:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 35 0 0.00 37 2 5.13 EHF 0 genome.wustl.edu 37 11 34670588 34670588 + Frame_Shift_Del DEL C C - TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 34670588 34670588 C 0 DEL EHF ENST00000257831 human ensembl 74_37 +1 known frame_shift_del c.366 p.Q123fs 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 235 0 0.00 204 17 7.69 EMC1 0 genome.wustl.edu 37 1 19566335 19566335 + Missense_Mutation SNP T T C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 19566335 19566335 T C SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.931 p.S311G 0.999 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 70 0 0.00 61 9 12.86 FAM27L 0 genome.wustl.edu 37 17 21825473 21825473 + RNA SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 21825473 21825473 C T SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM27L HGNC ENSG00000178130 tier1 - - 63 0 0.00 29 6 17.14 FANCC 0 genome.wustl.edu 37 9 97864003 97864003 + Nonsense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 97864003 97864003 G A SNP FANCC ENST00000289081 human ensembl 74_37 -1 known nonsense c.1663 p.R555* 0.057 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 tier1 - - 39 0 0.00 40 4 9.09 FAT2 0 genome.wustl.edu 37 5 150901409 150901409 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 5 150901409 150901409 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10745 p.A3582V 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 38 0 0.00 35 5 12.20 FAT4 0 genome.wustl.edu 37 4 126328146 126328146 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 126328146 126328146 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5419 p.R1807C 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 160 0 0.00 130 15 10.34 FSCB 0 genome.wustl.edu 37 14 44975139 44975139 + Missense_Mutation SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 14 44975139 44975139 A G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1052 p.L351P 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 124 0 0.00 105 12 10.26 GABRA1 0 genome.wustl.edu 37 5 161324286 161324286 + Missense_Mutation SNP A A T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 5 161324286 161324286 A T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1229 p.K410M 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 116 0 0.00 100 16 13.79 GRIA3 0 genome.wustl.edu 37 X 122551303 122551303 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 X 122551303 122551303 A C SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.1551 p.E517D 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 tier1 - - 296 0 0.00 255 16 5.90 HBD 0 genome.wustl.edu 37 11 5255609 5255609 + Missense_Mutation SNP C C A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 5255609 5255609 C A SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.55 p.V19L 0.588 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 tier1 - - 68 0 0.00 72 6 7.69 IPPK 0 genome.wustl.edu 37 9 95411847 95411847 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 95411847 95411847 C T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.302 p.C101Y 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 tier1 - - 39 0 0.00 36 10 21.74 ITGAL 0 genome.wustl.edu 37 16 30507808 30507808 + Missense_Mutation SNP A A T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 16 30507808 30507808 A T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1753 p.I585F 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 102 0 0.00 102 16 13.56 KLHL28 0 genome.wustl.edu 37 14 45414994 45414994 + Silent SNP A A T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 14 45414994 45414994 A T SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known silent c.138 p.I46 0.996 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 tier1 - - 113 0 0.00 97 15 13.39 KPRP 0 genome.wustl.edu 37 1 152732376 152732376 + Silent SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 152732376 152732376 T G SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.312 p.T104 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 225 0 0.00 189 33 14.80 LRBA 0 genome.wustl.edu 37 4 151511864 151511864 + Splice_Site SNP C C G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 151511864 151511864 C G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known splice_site c.6226+1 e39+1 1.000 - - - no_errors LRBA HGNC ENSG00000198589 tier1 - - 77 0 0.00 84 9 9.57 LRP1B 0 genome.wustl.edu 37 2 141130576 141130576 + Splice_Site SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 141130576 141130576 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.10768+1 e69+1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 167 0 0.00 148 13 8.07 LRRC7 0 genome.wustl.edu 37 1 70501889 70501889 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 70501889 70501889 T G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1967 p.L656R 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 74 0 0.00 71 6 7.69 LRRK2 0 genome.wustl.edu 37 12 40717052 40717052 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 12 40717052 40717052 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5600 p.N1867T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 80 0 0.00 76 17 18.28 MAP2 0 genome.wustl.edu 37 2 210558094 210558094 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 210558094 210558094 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1200 p.E400D 0.215 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 54 0 0.00 54 7 11.48 MAP2 0 genome.wustl.edu 37 2 210559324 210559324 + Silent SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 210559324 210559324 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.2430 p.L810 0.981 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 151 0 0.00 103 13 11.21 MCTP2 0 genome.wustl.edu 37 15 94913351 94913351 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 15 94913351 94913351 C T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known silent c.1524 p.V508 0.236 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 - - 53 0 0.00 38 9 19.15 MGAM 0 genome.wustl.edu 37 7 141734541 141734541 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 7 141734541 141734541 A C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.1859 p.K620T 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 33 0 0.00 49 4 7.55 MRPL1 0 genome.wustl.edu 37 4 78783988 78783988 + RNA DEL T T - TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 78783988 78783988 T - DEL MRPL1 ENST00000515625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors MRPL1 HGNC ENSG00000169288 tier1 93 0 0.00 95 13 12.04 MTRF1 0 genome.wustl.edu 37 13 41826831 41826831 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 13 41826831 41826831 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.686 p.C229Y 0.076 pfam_PCRF,smart_PCRF pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 48 0 0.00 38 4 9.52 MUC16 0 genome.wustl.edu 37 19 9088383 9088383 + Silent SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 9088383 9088383 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.3432 p.G1144 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 52 6 10.34 NLRP2 0 genome.wustl.edu 37 19 55493653 55493653 + Missense_Mutation SNP G G T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 55493653 55493653 G T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.587 p.S196I 0.005 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 166 0 0.00 154 17 9.94 NONO 0 genome.wustl.edu 37 X 70514185 70514185 + Silent SNP C C A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 X 70514185 70514185 C A SNP NONO ENST00000276079 human ensembl 74_37 +1 known silent c.457 p.R153 0.882 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 83 0 0.00 65 4 5.80 NPR3 0 genome.wustl.edu 37 5 32780832 32780832 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 5 32780832 32780832 C T SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known silent c.1200 p.I400 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 tier1 - - 155 0 0.00 120 30 20.00 NXF4 0 genome.wustl.edu 37 X 101818671 101818671 + RNA SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 X 101818671 101818671 A C SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 91 0 0.00 100 7 6.54 OR10AG1 0 genome.wustl.edu 37 11 55735598 55735598 + Silent SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 55735598 55735598 G A SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known silent c.342 p.Y114 0.357 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 52 0 0.00 64 4 5.88 OR2AK2 0 genome.wustl.edu 37 1 248129343 248129343 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 248129343 248129343 T G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.710 p.L237R 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 tier1 - - 81 0 0.00 74 7 8.64 OR51Q1 0 genome.wustl.edu 37 11 5444225 5444225 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 5444225 5444225 C T SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known silent c.795 p.R265 0.562 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 74 0 0.00 94 13 12.15 OR6C68 0 genome.wustl.edu 37 12 55886148 55886148 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 12 55886148 55886148 T G SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.2 p.M1R 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 - - 66 0 0.00 62 15 19.48 OR7D2 0 genome.wustl.edu 37 19 9296767 9296767 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 9296767 9296767 T G SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known missense c.310 p.S104A 0.022 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 tier1 - - 129 0 0.00 120 8 6.25 OR8B8 0 genome.wustl.edu 37 11 124310330 124310330 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 124310330 124310330 A C SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.652 p.Y218D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 tier1 - - 111 0 0.00 111 7 5.93 OR8H3 0 genome.wustl.edu 37 11 55890352 55890352 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 55890352 55890352 C T SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.504 p.F168 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 230 0 0.00 191 14 6.83 OR8H3 0 genome.wustl.edu 37 11 55890391 55890391 + Silent SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 55890391 55890391 T G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.543 p.T181 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 244 0 0.00 220 15 6.38 OTOGL 0 genome.wustl.edu 37 12 80660278 80660278 + Missense_Mutation SNP T T C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 12 80660278 80660278 T C SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.2245 p.C749R 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 28 0 0.00 28 6 17.65 PAFAH1B1 0 genome.wustl.edu 37 17 2573540 2573540 + Missense_Mutation SNP C C G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 2573540 2573540 C G SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.483 p.S161R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 - - 150 0 0.00 145 35 19.34 PAMR1 0 genome.wustl.edu 37 11 35453971 35453971 + Missense_Mutation SNP T T C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 35453971 35453971 T C SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.2147 p.H716R 0.934 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 80 0 0.00 66 4 5.63 PASK 0 genome.wustl.edu 37 2 242082442 242082442 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 242082442 242082442 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.6 p.E2 0.948 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 27 0 0.00 32 4 11.11 PCDH20 0 genome.wustl.edu 37 13 61987146 61987146 + Silent SNP T T C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 13 61987146 61987146 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.1086 p.K362 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 109 0 0.00 90 6 6.25 PLCL1 0 genome.wustl.edu 37 2 198968559 198968559 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 2 198968559 198968559 T G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.3004 p.F1002V 0.998 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 36 0 0.00 38 8 17.39 PLD5 0 genome.wustl.edu 37 1 242253408 242253408 + Silent SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 242253408 242253408 A G SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1359 p.N453 0.997 smart_PLipase_D/transphosphatidylase smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 73 0 0.00 71 9 11.25 POU4F2 0 genome.wustl.edu 37 4 147561786 147561786 + Silent SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 147561786 147561786 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.1056 p.I352 0.953 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 170 0 0.00 171 17 9.04 PRDM2 0 genome.wustl.edu 37 1 14108836 14108836 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 14108836 14108836 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.4546 p.R1516W 0.964 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 126 0 0.00 128 20 13.42 PRR19 0 genome.wustl.edu 37 19 42814019 42814019 + Missense_Mutation SNP C C G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 42814019 42814019 C G SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known missense c.283 p.L95V 0.001 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 tier1 - - 81 0 0.00 70 6 7.89 PRR4 0 genome.wustl.edu 37 12 10999945 10999945 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 12 10999945 10999945 C T SNP PRR4 ENST00000228811 human ensembl 74_37 -1 known missense c.122 p.R41K 0.001 NULL NULL - no_errors PRR4 HGNC ENSG00000111215 tier1 - - 78 0 0.00 70 9 11.39 PTPRD 0 genome.wustl.edu 37 9 8636819 8636819 + Silent SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 8636819 8636819 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.90 p.P30 0.072 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 65 0 0.00 66 14 17.50 PTRF 0 genome.wustl.edu 37 17 40557228 40557228 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 40557228 40557228 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.650 p.R217H 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 tier1 - - 168 0 0.00 136 19 12.26 RADIL 0 genome.wustl.edu 37 7 4874854 4874854 + Nonsense_Mutation SNP A A T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 7 4874854 4874854 A T SNP RADIL ENST00000445392 human ensembl 74_37 -1 known nonsense c.795 p.C265* 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 18 0 0.00 26 4 13.33 RAPGEF5 0 genome.wustl.edu 37 7 22184830 22184830 + Missense_Mutation SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 7 22184830 22184830 A G SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1559 p.I520T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 - - 24 0 0.00 12 4 25.00 RGS13 0 genome.wustl.edu 37 1 192628619 192628619 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 192628619 192628619 T G SNP RGS13 ENST00000391995 human ensembl 74_37 +1 known missense c.446 p.L149R 0.976 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS13 HGNC ENSG00000127074 tier1 - - 55 0 0.00 69 13 15.85 RUNDC1 0 genome.wustl.edu 37 17 41143701 41143701 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 41143701 41143701 C T SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known missense c.1810 p.R604C 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 tier1 - - 52 0 0.00 38 5 11.63 SCAI 0 genome.wustl.edu 37 9 127765857 127765857 + RNA DEL A A - TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 127765857 127765857 A - DEL SCAI ENST00000487795 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors SCAI HGNC ENSG00000173611 tier1 47 0 0.00 43 5 10.42 SF3B2 0 genome.wustl.edu 37 11 65836145 65836146 + Frame_Shift_Ins INS - - A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 65836145 65836146 - A INS SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_ins c.2617_2618 p.R876fs 1.000:1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 70 0 0.00 69 4 5.48 SHANK1 0 genome.wustl.edu 37 19 51215316 51215316 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 51215316 51215316 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.848 p.P283L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 59 0 0.00 57 11 16.18 SLC44A4 0 genome.wustl.edu 37 6 31832429 31832429 + Silent SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 6 31832429 31832429 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known silent c.2011 p.L671 0.994 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 114 0 0.00 103 12 10.43 SOX6 0 genome.wustl.edu 37 11 16339918 16339919 + RNA INS - - T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 16339918 16339919 - T INS SOX6 ENST00000533658 human ensembl 74_37 -1 known rna NULL NULL 0.194:0.017 - - - no_errors SOX6 HGNC ENSG00000110693 tier1 27 0 0.00 18 4 18.18 SPRR2G 0 genome.wustl.edu 37 1 153122522 153122522 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 153122522 153122522 T G SNP SPRR2G ENST00000368748 human ensembl 74_37 -1 known missense c.65 p.K22T 0.001 NULL NULL - no_errors SPRR2G HGNC ENSG00000159516 tier1 - - 82 0 0.00 65 15 18.75 SYDE2 0 genome.wustl.edu 37 1 85648219 85648219 + Silent SNP G G C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 1 85648219 85648219 G C SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known silent c.2106 p.V702 0.671 superfamily_C2_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 tier1 - - 42 0 0.00 45 7 13.46 TG 0 genome.wustl.edu 37 8 134145875 134145875 + Missense_Mutation SNP A A G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 8 134145875 134145875 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.8159 p.K2720R 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 30 0 0.00 31 7 18.42 TLR4 0 genome.wustl.edu 37 9 120475863 120475863 + Missense_Mutation SNP A A C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 9 120475863 120475863 A C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1457 p.N486T 0.031 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 77 0 0.00 70 9 11.39 TMEM209 0 genome.wustl.edu 37 7 129815438 129815438 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 7 129815438 129815438 C T SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known missense c.1258 p.G420R 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 - - 24 0 0.00 19 5 20.83 TMEM231 0 genome.wustl.edu 37 16 75579381 75579381 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 16 75579381 75579381 G A SNP TMEM231 ENST00000568377 human ensembl 74_37 -1 known missense c.538 p.L180F 0.890 pfam_TMEM231 pfam_TMEM231 - no_errors TMEM231 HGNC ENSG00000205084 tier1 - - 38 0 0.00 48 9 15.79 TNIP3 0 genome.wustl.edu 37 4 122078382 122078382 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 4 122078382 122078382 G A SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.230 p.T77M 0.001 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 tier1 - - 298 0 0.00 269 30 10.03 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 87 0 0.00 55 9 14.06 TRIM49 0 genome.wustl.edu 37 11 89531678 89531678 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 89531678 89531678 T G SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.979 p.S327R 0.000 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 65 0 0.00 61 7 10.29 TRIM49 0 genome.wustl.edu 37 11 89537506 89537506 + Missense_Mutation SNP T T A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 11 89537506 89537506 T A SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.132 p.Q44H 0.045 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 70 0 0.00 51 9 15.00 TUSC3 0 genome.wustl.edu 37 8 15517040 15517040 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 8 15517040 15517040 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.451 p.F151V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 tier1 - - 88 0 0.00 93 8 7.92 UPF3B 0 genome.wustl.edu 37 X 118968953 118968953 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 X 118968953 118968953 C T SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known missense c.1340 p.R447Q 1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 tier1 - - 138 0 0.00 123 8 6.11 USP16 0 genome.wustl.edu 37 21 30419465 30419465 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 21 30419465 30419465 G A SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.1834 p.D612N 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 124 0 0.00 92 12 11.54 XKR7 0 genome.wustl.edu 37 20 30584665 30584665 + Missense_Mutation SNP G G A TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 20 30584665 30584665 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1145 p.R382H 0.998 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 28 0 0.00 35 7 16.67 ZFHX4 0 genome.wustl.edu 37 8 77764365 77764365 + Missense_Mutation SNP G G C TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 8 77764365 77764365 G C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5208 p.Q1736H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 78 0 0.00 71 11 13.41 ZMYND8 0 genome.wustl.edu 37 20 45920611 45920611 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 20 45920611 45920611 C T SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.610 p.V204I 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 tier1 - - 61 0 0.00 36 6 14.29 ZNF43 0 genome.wustl.edu 37 19 21990636 21990636 + Missense_Mutation SNP T T G TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 21990636 21990636 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.2203 p.K735Q 0.001 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 ZNF43 HGNC ENSG00000198521 tier1 - - 73 0 0.00 62 5 7.46 ZNF440 0 genome.wustl.edu 37 19 11942382 11942382 + Missense_Mutation SNP C C T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 11942382 11942382 C T SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.391 p.H131Y 0.021 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 ZNF440 HGNC ENSG00000171295 tier1 - - 247 0 0.00 218 22 9.17 ZNF578 0 genome.wustl.edu 37 19 53015188 53015188 + Missense_Mutation SNP G G T TCGA-IN-A7NR-01A-11D-A34U-08 TCGA-IN-A7NR-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4300ef7d-030a-4486-b217-10886c229e24 8f57b280-f7bc-42ce-82e3-cf0bbc4c4d24 19 53015188 53015188 G T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1554 p.K518N 0.064 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 ZNF578 HGNC ENSG00000258405 tier1 - - 119 0 0.00 111 11 9.02