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 ABCC9 0 genome.wustl.edu 37 12 21998761 21998761 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 21998761 21998761 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2872 p.E958K 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 36 0 0.00 28 6 17.65 ABCG8 0 genome.wustl.edu 37 2 44100980 44100980 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 44100980 44100980 G A SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known silent c.1266 p.A422 0.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 tier1 - - 251 0 0.00 202 110 35.03 ADAM18 0 genome.wustl.edu 37 8 39550160 39550160 + Silent SNP A A T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 39550160 39550160 A T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known silent c.1863 p.G621 0.001 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 65 0 0.00 41 69 62.73 ALDH7A1 0 genome.wustl.edu 37 5 125894979 125894979 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 125894979 125894979 C T SNP ALDH7A1 ENST00000409134 human ensembl 74_37 -1 known missense c.961 p.A321T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH7A1 HGNC ENSG00000164904 tier1 - - 61 0 0.00 41 4 8.89 AMPH 0 genome.wustl.edu 37 7 38433745 38433745 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 38433745 38433745 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1468 p.E490K 0.025 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 184 0 0.00 191 32 14.35 ANKRD50 0 genome.wustl.edu 37 4 125591335 125591335 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 125591335 125591335 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3097 p.E1033K 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 71 0 0.00 45 7 13.46 ASCC3 0 genome.wustl.edu 37 6 101127565 101127565 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 101127565 101127565 C - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.2215 p.A739fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 71 0 0.00 33 31 48.44 ASNS 0 genome.wustl.edu 37 7 97498323 97498323 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 97498323 97498323 C T SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.146 p.R49Q 0.999 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 tier1 - - 60 0 0.00 30 27 47.37 ASPH 0 genome.wustl.edu 37 8 62550924 62550925 + Splice_Site INS - - A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 62550924 62550925 - A INS ASPH ENST00000379454 human ensembl 74_37 -1 known splice_site_ins c.791-3_791-2 e11-2 0.000:0.002 - - - no_errors ASPH HGNC ENSG00000198363 tier1 34 0 0.00 62 22 26.19 ATG4A 0 genome.wustl.edu 37 X 107381175 107381175 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 107381175 107381175 G A SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 tier1 - - 450 0 0.00 271 80 22.66 ATG9B 0 genome.wustl.edu 37 7 150714316 150714316 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 150714316 150714316 G A SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.2096 p.A699V 1.000 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 tier1 - - 32 0 0.00 37 5 11.90 ATP8B1 0 genome.wustl.edu 37 18 55398944 55398944 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 55398944 55398944 T G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.96 p.E32D 0.978 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 - - 181 0 0.00 112 47 29.56 AXDND1 0 genome.wustl.edu 37 1 179364294 179364294 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 179364294 179364294 A G SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1066 p.K356E 0.591 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 353 0 0.00 463 66 12.48 BCOR 0 genome.wustl.edu 37 X 39922090 39922090 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 39922090 39922090 C G SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.4082 p.R1361T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 39 0 0.00 28 7 20.00 BID 0 genome.wustl.edu 37 22 18222878 18222878 + Frame_Shift_Del DEL A A - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 18222878 18222878 A - DEL BID ENST00000342111 human ensembl 74_37 -1 known frame_shift_del c.288 p.E97fs 0.005 NULL pfam_BID - no_errors BID HGNC ENSG00000015475 tier1 21 0 0.00 43 8 15.69 C11orf35 0 genome.wustl.edu 37 11 558632 558632 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 558632 558632 G A SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known missense c.293 p.A98V 0.606 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 21 0 0.00 43 6 12.24 C4BPA 0 genome.wustl.edu 37 1 207314544 207314544 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 207314544 207314544 A C SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.1367 p.K456T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 tier1 - - 99 0 0.00 112 18 13.85 C4orf50 0 genome.wustl.edu 37 4 5966823 5966823 + Silent SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 5966823 5966823 T C SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known silent c.1929 p.S643 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 77 0 0.00 26 47 64.38 C8orf44 0 genome.wustl.edu 37 8 67589988 67589988 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 67589988 67589988 C - DEL C8orf44 ENST00000390159 human ensembl 74_37 +1 known frame_shift_del c.45 p.I17fs 0.000 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 tier1 95 0 0.00 123 26 17.45 C9orf173 0 genome.wustl.edu 37 9 140147643 140147643 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 9 140147643 140147643 C T SNP C9orf173 ENST00000388931 human ensembl 74_37 +1 known missense c.889 p.P297S 0.966 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 tier1 - - 19 0 0.00 26 8 23.53 CATSPERB 0 genome.wustl.edu 37 14 92174523 92174523 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 92174523 92174523 A G SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.428 p.I143T 0.998 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 81 0 0.00 23 59 71.95 CCDC146 0 genome.wustl.edu 37 7 76908083 76908083 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 76908083 76908083 C T SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known silent c.1455 p.N485 0.003 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 37 0 0.00 16 8 32.00 CHD5 0 genome.wustl.edu 37 1 6189065 6189065 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 6189065 6189065 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3452 p.R1151Q 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 66 0 0.00 71 10 12.35 CHTF8 0 genome.wustl.edu 37 16 69155067 69155068 + Frame_Shift_Ins INS - - A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 69155067 69155068 - A INS CHTF8 ENST00000398235 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.R10fs 1.000:1.000 NULL pfam_Chromosome_trans_fidel_Ctf8 - no_errors CHTF8 HGNC ENSG00000168802 tier1 154 0 0.00 138 26 15.85 CLDN9 0 genome.wustl.edu 37 16 3063442 3063442 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 3063442 3063442 C T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.79 p.L27 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 tier1 - - 65 0 0.00 62 27 30.34 CLEC3A 0 genome.wustl.edu 37 16 78062022 78062022 + Missense_Mutation SNP A A T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 78062022 78062022 A T SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known missense c.161 p.K54M 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 tier1 - - 136 0 0.00 122 18 12.86 CNTN5 0 genome.wustl.edu 37 11 100141944 100141944 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100141944 100141944 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2285 p.P762Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 38 0 0.00 29 11 27.50 CNTN5 0 genome.wustl.edu 37 11 100221602 100221602 + Splice_Site SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100221602 100221602 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known splice_site c.3199+1 e22+1 1.000 - - - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 76 0 0.00 73 9 10.98 COL21A1 0 genome.wustl.edu 37 6 55942347 55942347 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 55942347 55942347 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known nonsense c.1837 p.R613* 0.998 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 14 0 0.00 13 9 40.91 CSMD2 0 genome.wustl.edu 37 1 34090806 34090806 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 34090806 34090806 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5345 p.R1782H 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 CSMD2 HGNC ENSG00000121904 tier1 rs150609588 - 45 0 0.00 11 34 75.56 CSMD3 0 genome.wustl.edu 37 8 114186069 114186069 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 114186069 114186069 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.591 p.G197 0.950 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 - - 114 0 0.00 55 104 65.41 CSN2 0 genome.wustl.edu 37 4 70823443 70823443 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 70823443 70823443 C A SNP CSN2 ENST00000353151 human ensembl 74_37 -1 known missense c.224 p.G75V 0.000 pirsf_Casein_beta pfam_Casein,pirsf_Casein_beta - no_errors CSN2 HGNC ENSG00000135222 tier1 - - 110 0 0.00 92 23 20.00 CUL4A 0 genome.wustl.edu 37 13 113898739 113898739 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 13 113898739 113898739 C T SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known missense c.1244 p.S415L 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 tier1 - - 23 0 0.00 28 5 14.71 DCK 0 genome.wustl.edu 37 4 71888182 71888182 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 71888182 71888182 C G SNP DCK ENST00000286648 human ensembl 74_37 +1 known silent c.306 p.L102 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 tier1 - - 105 0 0.00 44 72 62.07 DMBT1 0 genome.wustl.edu 37 10 124352022 124352022 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 124352022 124352022 G C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.2411 p.G804A 0.988 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 207 0 0.00 60 158 72.48 DNAH11 0 genome.wustl.edu 37 7 21818680 21818680 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 21818680 21818680 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.9462 p.K3154N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 45 0 0.00 26 20 43.48 DTX3 0 genome.wustl.edu 37 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 58001073 58001073 C - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known frame_shift_del c.436 p.L148fs 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 tier1 11 0 0.00 11 3 21.43 DYNC1H1 0 genome.wustl.edu 37 14 102452723 102452723 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 102452723 102452723 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.2161 p.E721K 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 65 0 0.00 60 15 20.00 EBF2 0 genome.wustl.edu 37 8 25747377 25747377 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 25747377 25747377 C A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.642 p.L214F 0.998 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 83 0 0.00 144 19 11.66 ENSG00000214999 0 genome.wustl.edu 37 17 7983345 7983346 + Frame_Shift_Del DEL CC CC - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 7983345 7983346 CC - DEL ENSG00000214999 ENST00000399413 human ensembl 74_37 +1 putative frame_shift_del c.26_27 p.T9fs 0.000:0.000 NULL NULL - no_errors AC129492.6 Clone_based_vega_gene ENSG00000214999 tier1 8 0 0.00 6 3 33.33 ENSG00000232783 0 genome.wustl.edu 37 3 197838273 197838274 + RNA INS - - A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 3 197838273 197838274 - A INS ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 tier1 12 0 0.00 8 5 38.46 ENSG00000255641 0 genome.wustl.edu 37 12 10588443 10588443 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 10588443 10588443 G C SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.143 p.P48R 0.028 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 tier1 - - 135 0 0.00 100 60 37.50 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861903 + RNA DEL T T - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 9 21861903 21861903 T - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 37 0 0.00 21 4 16.00 FAM160A2 0 genome.wustl.edu 37 11 6245199 6245199 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 6245199 6245199 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.418 p.E140K 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 75 0 0.00 21 79 79.00 FAT3 0 genome.wustl.edu 37 11 92614004 92614004 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 92614004 92614004 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12235 p.G4079R 0.999 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 288 0 0.00 216 38 14.96 FCER1A 0 genome.wustl.edu 37 1 159276003 159276003 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 159276003 159276003 A G SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.557 p.E186G 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 tier1 - - 96 0 0.00 90 15 14.29 FLG 0 genome.wustl.edu 37 1 152286983 152286983 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 152286983 152286983 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.379 p.S127G 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 86 0 0.00 41 38 48.10 FLJ45139 0 genome.wustl.edu 37 21 40250361 40250362 + RNA INS - - AA TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 21 40250361 40250362 - AA INS FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.011:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 tier1 20 0 0.00 4 6 60.00 FMNL3 0 genome.wustl.edu 37 12 50043301 50043301 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 50043301 50043301 C T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.2256 p.A752 0.984 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 tier1 - - 109 0 0.00 80 88 52.38 GLI3 0 genome.wustl.edu 37 7 42005871 42005871 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 42005871 42005871 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2800 p.A934T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 47 0 0.00 23 32 58.18 GNAO1 0 genome.wustl.edu 37 16 56385346 56385346 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 56385346 56385346 G A SNP GNAO1 ENST00000262493 human ensembl 74_37 +1 known silent c.774 p.K258 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 tier1 - - 63 0 0.00 31 14 31.11 GPR112 0 genome.wustl.edu 37 X 135431440 135431440 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 135431440 135431440 C G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.5575 p.Q1859E 0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 168 0 0.00 79 18 18.56 GPR133 0 genome.wustl.edu 37 12 131490569 131490569 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 131490569 131490569 C A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1308 p.N436K 0.256 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 tier1 - - 87 0 0.00 108 6 5.26 GREB1 0 genome.wustl.edu 37 2 11780553 11780553 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 11780553 11780553 C G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5823 p.L1941 0.999 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 143 0 0.00 143 27 15.88 GTSE1 0 genome.wustl.edu 37 22 46704833 46704833 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 46704833 46704833 C G SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.755 p.A252G 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 tier1 - - 101 0 0.00 51 125 71.02 HCAR2 0 genome.wustl.edu 37 12 123186811 123186811 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 123186811 123186811 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known silent c.1020 p.G340 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 rs200668464 - 186 0 0.00 154 54 25.84 IRX2 0 genome.wustl.edu 37 5 2748625 2748625 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 2748625 2748625 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.1197 p.N399 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 tier1 - - 63 0 0.00 104 19 15.45 ITGAX 0 genome.wustl.edu 37 16 31368016 31368016 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 31368016 31368016 A G SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.214 p.S72G 0.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 15 0 0.00 12 4 25.00 KCNH1 0 genome.wustl.edu 37 1 211093204 211093204 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 211093204 211093204 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1240 p.R414C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 112 0 0.00 53 101 65.58 KHDRBS2 0 genome.wustl.edu 37 6 62611216 62611216 + Nonsense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 62611216 62611216 C A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known nonsense c.544 p.E182* 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 109 0 0.00 92 18 16.36 KLHL14 0 genome.wustl.edu 37 18 30321968 30321968 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 30321968 30321968 G C SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.992 p.P331R 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 tier1 - - 64 0 0.00 43 13 23.21 KLK5 0 genome.wustl.edu 37 19 51455845 51455845 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 51455845 51455845 G A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known silent c.69 p.V23 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 tier1 - - 58 0 0.00 62 47 43.12 LAYN 0 genome.wustl.edu 37 11 111420376 111420376 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 111420376 111420376 C T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known silent c.441 p.S147 0.034 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 90 0 0.00 63 18 22.22 LINC00207 0 genome.wustl.edu 37 22 44966444 44966444 + RNA SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 44966444 44966444 G A SNP LINC00207 ENST00000334566 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00207 HGNC ENSG00000187012 tier1 - - 34 0 0.00 58 6 9.38 LRP2 0 genome.wustl.edu 37 2 170175292 170175292 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 170175292 170175292 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.290 p.S97L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 101 0 0.00 79 39 33.05 LRRC43 0 genome.wustl.edu 37 12 122685460 122685460 + Silent SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 122685460 122685460 T G SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1788 p.S596 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 tier1 - - 71 0 0.00 70 7 9.09 LRRIQ1 0 genome.wustl.edu 37 12 85531653 85531653 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 85531653 85531653 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4235 p.R1412Q 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 106 0 0.00 60 38 38.78 LTB4R 0 genome.wustl.edu 37 14 24785118 24785118 + Silent SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 24785118 24785118 G C SNP LTB4R ENST00000345363 human ensembl 74_37 +1 known silent c.261 p.L87 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-1_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R HGNC ENSG00000213903 tier1 - - 140 0 0.00 94 34 26.56 MAGEB2 0 genome.wustl.edu 37 X 30237221 30237221 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 30237221 30237221 G A SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.524 p.G175D 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 26 0 0.00 14 6 30.00 MAGEL2 0 genome.wustl.edu 37 15 23890002 23890002 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 23890002 23890002 G T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1079 p.A360E 0.783 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 36 0 0.00 26 6 18.75 MARCKS 0 genome.wustl.edu 37 6 114181209 114181210 + Frame_Shift_Ins INS - - A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 114181209 114181210 - A INS MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_ins c.453_454 p.K155fs 0.995:1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 tier1 16 0 0.00 28 4 12.50 MEOX2 0 genome.wustl.edu 37 7 15666503 15666503 + Missense_Mutation SNP T T A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 15666503 15666503 T A SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.558 p.K186N 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 87 0 0.00 25 60 70.59 MGRN1 0 genome.wustl.edu 37 16 4715142 4715142 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 4715142 4715142 C T SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.668 p.A223V 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 tier1 - - 63 0 0.00 49 10 16.95 MIA3 0 genome.wustl.edu 37 1 222801452 222801452 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 222801452 222801452 C T SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.890 p.T297I 1.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 109 0 0.00 138 15 9.80 MKI67 0 genome.wustl.edu 37 10 129904032 129904032 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 129904032 129904032 C A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6072 p.K2024N 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 411 0 0.00 302 73 19.47 MRPS18B 0 genome.wustl.edu 37 6 30587356 30587356 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 30587356 30587356 C A SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known silent c.165 p.P55 0.996 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 tier1 - - 75 0 0.00 115 17 12.88 MUM1L1 0 genome.wustl.edu 37 X 105451265 105451265 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 105451265 105451265 C G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1840 p.Q614E 1.000 superfamily_PyrdxlP-dep_Trfase superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 41 0 0.00 27 5 15.62 MYO9A 0 genome.wustl.edu 37 15 72118997 72118997 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 72118997 72118997 C T SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.7784 p.R2595H 0.106 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 rs199960921 - 175 0 0.00 81 59 42.14 MYOM2 0 genome.wustl.edu 37 8 2044181 2044181 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 2044181 2044181 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2220 p.S740 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 134 0 0.00 83 139 62.61 NCOR2 0 genome.wustl.edu 37 12 124832724 124832724 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 124832724 124832724 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.4002 p.I1334 0.980 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 69 0 0.00 62 24 27.91 NDST3 0 genome.wustl.edu 37 4 118975750 118975750 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 118975750 118975750 G C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.685 p.A229P 0.155 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 137 0 0.00 90 19 17.43 NEUROG2 0 genome.wustl.edu 37 4 113435863 113435863 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 113435863 113435863 C T SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known missense c.769 p.D257N 0.992 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 tier1 - - 46 0 0.00 34 15 30.61 NLRP14 0 genome.wustl.edu 37 11 7064214 7064214 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 7064214 7064214 G A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.957 p.L319 0.955 superfamily_P-loop_NTPase,pfscan_NACHT_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 NLRP14 HGNC ENSG00000158077 tier1 - - 121 0 0.00 94 49 34.27 NRXN1 0 genome.wustl.edu 37 2 50765564 50765564 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 50765564 50765564 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1946 p.R649Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 422 0 0.00 282 140 33.18 NUP43 0 genome.wustl.edu 37 6 150052776 150052776 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 150052776 150052776 G A SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known missense c.886 p.P296S 0.847 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 tier1 - - 68 0 0.00 46 33 41.77 NYAP1 0 genome.wustl.edu 37 7 100087129 100087129 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 100087129 100087129 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.1785 p.T595 0.853 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 tier1 - - 93 0 0.00 125 17 11.97 OR11L1 0 genome.wustl.edu 37 1 248005091 248005091 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 248005091 248005091 G T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known nonsense c.108 p.C36* 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 63 0 0.00 52 6 10.34 PCF11 0 genome.wustl.edu 37 11 82880886 82880886 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 82880886 82880886 C A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.3509 p.P1170Q 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 35 0 0.00 29 4 12.12 PCNXL2 0 genome.wustl.edu 37 1 233190032 233190032 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 233190032 233190032 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.4333 p.R1445* 0.994 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 40 0 0.00 51 8 13.56 PDE4B 0 genome.wustl.edu 37 1 66458721 66458721 + Silent SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 66458721 66458721 A G SNP PDE4B ENST00000423207 human ensembl 74_37 +1 known silent c.132 p.K44 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 102 0 0.00 86 18 17.31 PEG3 0 genome.wustl.edu 37 19 57327684 57327684 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 57327684 57327684 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2126 p.R709Q 0.992 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 82 0 0.00 68 13 16.05 PELO 0 genome.wustl.edu 37 5 52096552 52096552 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 52096552 52096552 C G SNP PELO ENST00000274311 human ensembl 74_37 +1 known silent c.324 p.R108 1.000 pfam_eRF1_1_Pelota,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 tier1 - - 68 0 0.00 37 11 22.92 PGR 0 genome.wustl.edu 37 11 100909916 100909916 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100909916 100909916 T G SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2733 p.E911D 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 77 0 0.00 34 37 52.11 PLEKHF1 0 genome.wustl.edu 37 19 30164944 30164944 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 30164944 30164944 C T SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.198 p.S66 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 tier1 rs146769630 - 81 0 0.00 86 58 40.28 PNPLA5 0 genome.wustl.edu 37 22 44287076 44287076 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 44287076 44287076 G A SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known nonsense c.292 p.Q98* 0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 tier1 - - 48 0 0.00 61 6 8.96 POMT1 0 genome.wustl.edu 37 9 134385736 134385736 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 9 134385736 134385736 G C SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.855 p.L285F 0.930 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 tier1 rs201073763 - 86 0 0.00 93 21 18.42 PPIP5K2 0 genome.wustl.edu 37 5 102526614 102526614 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 102526614 102526614 C A SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.3424 p.Q1142K 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 tier1 - - 102 0 0.00 35 9 20.45 PPP1R16A 0 genome.wustl.edu 37 8 145722662 145722662 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 145722662 145722662 C T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.85 p.R29W 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 27 0 0.00 28 29 50.88 PRKAR1B 0 genome.wustl.edu 37 7 751114 751114 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 751114 751114 T G SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.29 p.E10A 1.000 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 tier1 - - 121 0 0.00 138 32 18.82 PRNT 0 genome.wustl.edu 37 20 4713172 4713172 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 4713172 4713172 C - DEL PRNT ENST00000326539 human ensembl 74_37 -1 known frame_shift_del c.151 p.A51fs 0.001 NULL NULL - no_errors PRNT HGNC ENSG00000180259 tier1 33 0 0.00 34 2 5.56 PTPN11 0 genome.wustl.edu 37 12 112915738 112915738 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 112915738 112915738 G A SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.1011 p.T337 0.058 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 50 0 0.00 38 14 26.92 PTPRT 0 genome.wustl.edu 37 20 40747103 40747103 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 40747103 40747103 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2979 p.M993I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 85 0 0.00 106 43 28.86 PXDN 0 genome.wustl.edu 37 2 1653317 1653317 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 1653317 1653317 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2235 p.D745 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 214 0 0.00 112 103 47.91 RASGRP3 0 genome.wustl.edu 37 2 33749572 33749572 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 33749572 33749572 G A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.764 p.R255H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 tier1 - - 21 0 0.00 6 7 53.85 RBBP6 0 genome.wustl.edu 37 16 24582621 24582621 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 24582621 24582621 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known nonsense c.4234 p.E1412* 0.712 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 70 0 0.00 85 16 15.84 RBBP7 0 genome.wustl.edu 37 X 16871811 16871811 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 16871811 16871811 A C SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.752 p.L251R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 tier1 - - 86 0 0.00 46 34 42.50 RIMS1 0 genome.wustl.edu 37 6 72596855 72596855 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 72596855 72596855 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.129 p.Q43 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 21 0 0.00 30 14 31.82 RNF216P1 0 genome.wustl.edu 37 7 5016014 5016014 + RNA SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 5016014 5016014 A G SNP RNF216P1 ENST00000403969 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RNF216P1 HGNC ENSG00000196204 tier1 - - 78 0 0.00 59 35 37.23 RSU1 0 genome.wustl.edu 37 10 16794990 16794990 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 16794990 16794990 C G SNP RSU1 ENST00000345264 human ensembl 74_37 -1 known missense c.410 p.R137P 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors RSU1 HGNC ENSG00000148484 tier1 - - 36 0 0.00 39 7 15.22 RTN4RL2 0 genome.wustl.edu 37 11 57235419 57235419 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 57235419 57235419 G A SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known silent c.369 p.E123 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 tier1 - - 127 0 0.00 145 11 7.05 SBNO2 0 genome.wustl.edu 37 19 1113620 1113620 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 1113620 1113620 T G SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.2161 p.K721Q 0.995 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 29 0 0.00 17 20 54.05 SFMBT2 0 genome.wustl.edu 37 10 7409728 7409728 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 7409728 7409728 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 67 0 0.00 40 25 38.46 SHKBP1 0 genome.wustl.edu 37 19 41082994 41082994 + RNA DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 41082994 41082994 C - DEL SHKBP1 ENST00000600552 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SHKBP1 HGNC ENSG00000160410 tier1 19 0 0.00 13 4 23.53 SI 0 genome.wustl.edu 37 3 164733820 164733820 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 3 164733820 164733820 T G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3808 p.T1270P 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 SI HGNC ENSG00000090402 tier1 - - 175 0 0.00 283 21 6.89 SIPA1L2 0 genome.wustl.edu 37 1 232650859 232650859 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 232650859 232650859 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.227 p.V76A 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 121 0 0.00 156 15 8.77 SIPA1L3 0 genome.wustl.edu 37 19 38573567 38573567 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 38573567 38573567 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.1362 p.S454 0.007 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 77 0 0.00 82 17 17.17 SLC17A4 0 genome.wustl.edu 37 6 25762200 25762200 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 25762200 25762200 G A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.10 p.G4R 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 68 0 0.00 102 8 7.27 SLC39A8 0 genome.wustl.edu 37 4 103189107 103189107 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 103189107 103189107 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.970 p.A324T 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 73 0 0.00 38 32 45.71 SLC44A3 0 genome.wustl.edu 37 1 95330395 95330395 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 95330395 95330395 C A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known silent c.1335 p.I445 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 tier1 - - 188 0 0.00 84 125 59.81 SLIT2 0 genome.wustl.edu 37 4 20620432 20620432 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 20620432 20620432 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4390 p.K1464Q 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 82 0 0.00 56 13 18.84 SMG6 0 genome.wustl.edu 37 17 2202240 2202240 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 2202240 2202240 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1807 p.R603C 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 rs139239231 - 276 0 0.00 314 42 11.80 SOBP 0 genome.wustl.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 107956280 107956282 GCC - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known in_frame_del c.2232_2234 p.P748in_frame_del 0.125:0.067:0.048 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 12 0 0.00 16 3 15.79 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 24 0 0.00 26 3 10.34 SPRY2 0 genome.wustl.edu 37 13 80911385 80911385 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 13 80911385 80911385 C T SNP SPRY2 ENST00000377102 human ensembl 74_37 -1 known silent c.456 p.V152 0.997 NULL pfam_Sprouty - no_errors SPRY2 HGNC ENSG00000136158 tier1 - - 57 0 0.00 60 22 26.83 SSFA2 0 genome.wustl.edu 37 2 182780324 182780324 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 182780324 182780324 G T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known nonsense c.1957 p.E653* 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 103 0 0.00 75 35 31.82 STARD3 0 genome.wustl.edu 37 17 37814753 37814753 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 37814753 37814753 C A SNP STARD3 ENST00000544210 human ensembl 74_37 +1 known missense c.512 p.P171H 0.145 NULL pfam_START_lipid-bd_dom,pfam_MENTAL,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 tier1 - - 109 0 0.00 115 13 10.16 SUV420H1 0 genome.wustl.edu 37 11 67938702 67938702 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 67938702 67938702 A C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.837 p.C279W 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 59 0 0.00 17 22 56.41 TBC1D20 0 genome.wustl.edu 37 20 420910 420910 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 420910 420910 C T SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known silent c.750 p.P250 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 tier1 - - 19 0 0.00 33 7 17.50 TBCK 0 genome.wustl.edu 37 4 107156504 107156505 + Frame_Shift_Ins INS - - T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 107156504 107156505 - T INS TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_ins c.1371_1370 p.N457fs 1.000:1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 tier1 26 0 0.00 21 2 8.70 TCEB1 0 genome.wustl.edu 37 8 74858991 74858991 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 74858991 74858991 C T SNP TCEB1 ENST00000520242 human ensembl 74_37 -1 known silent c.213 p.S71 0.994 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC ENSG00000154582 tier1 - - 55 0 0.00 73 13 15.12 TCEB3B 0 genome.wustl.edu 37 18 44560458 44560458 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 44560458 44560458 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1178 p.R393Q 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 151 0 0.00 42 106 71.62 TDRD1 0 genome.wustl.edu 37 10 115970681 115970681 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 115970681 115970681 G T SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1615 p.D539Y 0.053 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 90 0 0.00 17 72 80.90 TENM3 0 genome.wustl.edu 37 4 183673128 183673128 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 183673128 183673128 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3805 p.E1269K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 47 0 0.00 20 25 55.56 TMEM132B 0 genome.wustl.edu 37 12 126138772 126138772 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 126138772 126138772 A G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2753 p.N918S 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 106 0 0.00 91 41 31.06 TMEM150C 0 genome.wustl.edu 37 4 83411301 83411301 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 83411301 83411301 G C SNP TMEM150C ENST00000449862 human ensembl 74_37 -1 known missense c.454 p.L152V 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150C HGNC ENSG00000249242 tier1 - - 153 0 0.00 117 35 23.03 TNN 0 genome.wustl.edu 37 1 175066621 175066621 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 175066621 175066621 C A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1657 p.P553T 0.266 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 64 0 0.00 65 8 10.96 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 rs121913343 - 27 0 0.00 8 36 81.82 UBASH3B 0 genome.wustl.edu 37 11 122680515 122680515 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 122680515 122680515 T G SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1871 p.L624R 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 tier1 - - 72 0 0.00 91 14 13.33 USH2A 0 genome.wustl.edu 37 1 216138742 216138742 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 216138742 216138742 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7037 p.H2346P 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 140 0 0.00 168 29 14.72 UTRN 0 genome.wustl.edu 37 6 144876012 144876012 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 144876012 144876012 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.7117 p.Q2373K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 56 0 0.00 43 6 12.24 VCX 0 genome.wustl.edu 37 X 7811945 7811945 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 7811945 7811945 T C SNP VCX ENST00000381059 human ensembl 74_37 +1 known missense c.509 p.V170A 0.048 NULL NULL - no_errors VCX HGNC ENSG00000182583 tier1 - - 270 0 0.00 234 18 7.09 WDR54 0 genome.wustl.edu 37 2 74651071 74651071 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 74651071 74651071 C T SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.496 p.P166S 0.218 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 87 0 0.00 91 8 8.08 XIAP 0 genome.wustl.edu 37 X 123020262 123020262 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 123020262 123020262 C T SNP XIAP ENST00000355640 human ensembl 74_37 +1 known silent c.750 p.F250 0.742 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 tier1 - - 122 0 0.00 53 25 31.65 YIF1A 0 genome.wustl.edu 37 11 66052118 66052118 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 66052118 66052118 A C SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.872 p.L291R 1.000 NULL pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 tier1 - - 44 0 0.00 50 5 9.09 ZBTB7A 0 genome.wustl.edu 37 19 4055065 4055065 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 4055065 4055065 T C SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.166 p.S56G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 tier1 - - 68 0 0.00 43 14 24.56 ZFP92 0 genome.wustl.edu 37 X 152686486 152686486 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 152686486 152686486 C G SNP ZFP92 ENST00000338647 human ensembl 74_37 +1 known missense c.651 p.F217L 0.210 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 ZFP92 HGNC ENSG00000189420 tier1 - - 13 0 0.00 10 8 44.44 ZNF141 0 genome.wustl.edu 37 4 338129 338129 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 338129 338129 G A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.136 p.A46T 0.220 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF141 HGNC ENSG00000131127 tier1 rs75245145 - 72 0 0.00 92 14 13.21 ZNF141 0 genome.wustl.edu 37 4 338156 338156 + Missense_Mutation SNP T T A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 338156 338156 T A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.163 p.C55S 0.084 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF141 HGNC ENSG00000131127 tier1 rs79227679 - 94 0 0.00 113 14 11.02 ZNF141 0 genome.wustl.edu 37 4 338186 338186 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 338186 338186 G T SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.193 p.V65L 0.361 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 ZNF141 HGNC ENSG00000131127 tier1 rs78725891 - 102 0 0.00 122 13 9.63 ZNF266 0 genome.wustl.edu 37 19 9525139 9525139 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 9525139 9525139 T G SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.462 p.K154N 0.214 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 tier1 - - 176 0 0.00 100 19 15.97 ZNF595 0 genome.wustl.edu 37 4 86145 86145 + RNA SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 86145 86145 A G SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 rs200927625 - 49 0 0.00 111 8 6.72 ZNF800 0 genome.wustl.edu 37 7 127014290 127014290 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 127014290 127014290 T C SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1100 p.K367R 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 tier1 - - 99 0 0.00 51 45 46.88 ZNF804A 0 genome.wustl.edu 37 2 185802238 185802238 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 185802238 185802238 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2115 p.N705K 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 59 0 0.00 47 5 9.62 ZNF862 0 genome.wustl.edu 37 7 149558701 149558701 + Frame_Shift_Del DEL G G - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 149558701 149558701 G - DEL ZNF862 ENST00000223210 human ensembl 74_37 +1 known frame_shift_del c.2452 p.G819fs 0.966 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 tier1 17 0 0.00 19 2 9.52 FLG 0 genome.wustl.edu 37 1 152286983 152286983 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 152286983 152286983 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.379 p.S127G 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 83 0 0 38 38 50 FCER1A 0 genome.wustl.edu 37 1 159276003 159276003 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 159276003 159276003 A G SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.557 p.E186G 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 83 0 0 79 13 14.1304 TNN 0 genome.wustl.edu 37 1 175066621 175066621 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 175066621 175066621 C A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1657 p.P553T 0.266 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 60 0 0 63 8 11.2676 AXDND1 0 genome.wustl.edu 37 1 179364294 179364294 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 179364294 179364294 A G SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1066 p.K356E 0.591 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 309 0 0 378 58 13.3028 F13B 0 genome.wustl.edu 37 1 197026151 197026151 + Missense_Mutation SNP T T A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 197026151 197026151 T A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1163 p.E388V 0.987 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 41 0 0 39 23 37.0968 C4BPA 0 genome.wustl.edu 37 1 207314544 207314544 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 207314544 207314544 A C SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.1367 p.K456T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 94 0 0 99 16 13.913 KCNH1 0 genome.wustl.edu 37 1 211093204 211093204 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 211093204 211093204 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1240 p.R414C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 103 0 0 52 93 64.1379 USH2A 0 genome.wustl.edu 37 1 216138742 216138742 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 216138742 216138742 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7037 p.H2346P 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 124 0 0 156 24 13.3333 MIA3 0 genome.wustl.edu 37 1 222801452 222801452 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 222801452 222801452 C T SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.890 p.T297I 1.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 98 0 0 123 14 10.219 SIPA1L2 0 genome.wustl.edu 37 1 232650859 232650859 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 232650859 232650859 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.227 p.V76A 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 115 0 0 150 15 9.09091 PCNXL2 0 genome.wustl.edu 37 1 233190032 233190032 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 233190032 233190032 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.4333 p.R1445* 0.994 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 36 0 0 43 7 14 OR11L1 0 genome.wustl.edu 37 1 248005091 248005091 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 248005091 248005091 G T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known nonsense c.108 p.C36* 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 55 0 0 49 6 10.9091 CSMD2 0 genome.wustl.edu 37 1 34090806 34090806 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 34090806 34090806 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5345 p.R1782H 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 CSMD2 HGNC ENSG00000121904 44 0 0 11 32 74.4186 CHD5 0 genome.wustl.edu 37 1 6189065 6189065 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 6189065 6189065 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3452 p.R1151Q 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 52 0 0 62 7 10.1449 PDE4B 0 genome.wustl.edu 37 1 66458721 66458721 + Silent SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 66458721 66458721 A G SNP PDE4B ENST00000423207 human ensembl 74_37 +1 known silent c.132 p.K44 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 93 0 0 76 16 17.3913 SLC44A3 0 genome.wustl.edu 37 1 95330395 95330395 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 1 95330395 95330395 C A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known silent c.1335 p.I445 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 176 0 0 77 113 59.4737 TDRD1 0 genome.wustl.edu 37 10 115970681 115970681 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 115970681 115970681 G T SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1615 p.D539Y 0.053 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 72 0 0 14 62 81.5789 DMBT1 0 genome.wustl.edu 37 10 124352022 124352022 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 124352022 124352022 G C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.2411 p.G804A 0.988 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 198 0 0 60 151 71.564 MKI67 0 genome.wustl.edu 37 10 129904032 129904032 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 129904032 129904032 C A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6072 p.K2024N 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 381 0 0 279 66 19.1304 RSU1 0 genome.wustl.edu 37 10 16794990 16794990 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 16794990 16794990 C G SNP RSU1 ENST00000345264 human ensembl 74_37 -1 known missense c.410 p.R137P 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors RSU1 HGNC ENSG00000148484 33 0 0 35 6 14.6341 SIRT1 0 genome.wustl.edu 37 10 69666567 69666567 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 69666567 69666567 C G SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.963 p.F321L 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 38 0 0 44 3 6.38298 SFMBT2 0 genome.wustl.edu 37 10 7409728 7409728 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 10 7409728 7409728 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 61 0 0 33 20 37.7358 CNTN5 0 genome.wustl.edu 37 11 100141944 100141944 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100141944 100141944 C A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2285 p.P762Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 35 0 0 27 10 27.027 CNTN5 0 genome.wustl.edu 37 11 100221602 100221602 + Splice_Site SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100221602 100221602 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known splice_site c.3199+1 e22+1 1.000 - - - no_errors CNTN5 HGNC ENSG00000149972 67 0 0 66 7 9.58904 PGR 0 genome.wustl.edu 37 11 100909916 100909916 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 100909916 100909916 T G SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2733 p.E911D 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 67 0 0 31 32 50.7937 LAYN 0 genome.wustl.edu 37 11 111420376 111420376 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 111420376 111420376 C T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known silent c.441 p.S147 0.034 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 83 0 0 58 16 21.6216 UBASH3B 0 genome.wustl.edu 37 11 122680515 122680515 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 122680515 122680515 T G SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1871 p.L624R 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 73 0 0 84 14 14.2857 C11orf35 0 genome.wustl.edu 37 11 558632 558632 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 558632 558632 G A SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known missense c.293 p.A98V 0.606 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 21 0 0 37 5 11.9048 RTN4RL2 0 genome.wustl.edu 37 11 57235419 57235419 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 57235419 57235419 G A SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known silent c.369 p.E123 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 123 0 0 131 11 7.74648 FAM160A2 0 genome.wustl.edu 37 11 6245199 6245199 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 6245199 6245199 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.418 p.E140K 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 70 0 0 20 74 78.7234 YIF1A 0 genome.wustl.edu 37 11 66052118 66052118 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 66052118 66052118 A C SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.872 p.L291R 1.000 NULL pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 40 0 0 44 5 10.2041 SUV420H1 0 genome.wustl.edu 37 11 67938702 67938702 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 67938702 67938702 A C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.837 p.C279W 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 49 0 0 13 20 60.6061 NLRP14 0 genome.wustl.edu 37 11 7064214 7064214 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 7064214 7064214 G A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known silent c.957 p.L319 0.955 superfamily_P-loop_NTPase,pfscan_NACHT_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 NLRP14 HGNC ENSG00000158077 114 0 0 79 42 34.7107 FAT3 0 genome.wustl.edu 37 11 92614004 92614004 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 11 92614004 92614004 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12235 p.G4079R 0.999 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 262 0 0 194 35 15.2838 ENSG00000255641 0 genome.wustl.edu 37 12 10588443 10588443 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 10588443 10588443 G C SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.143 p.P48R 0.028 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 121 0 0 85 57 40.1408 PTPN11 0 genome.wustl.edu 37 12 112915738 112915738 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 112915738 112915738 G A SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.1011 p.T337 0.058 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 48 0 0 33 13 28.2609 LRRC43 0 genome.wustl.edu 37 12 122685460 122685460 + Silent SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 122685460 122685460 T G SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1788 p.S596 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 65 0 0 60 6 9.09091 HCAR2 0 genome.wustl.edu 37 12 123186811 123186811 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 123186811 123186811 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known silent c.1020 p.G340 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 183 0 0 145 54 27.1357 NCOR2 0 genome.wustl.edu 37 12 124832724 124832724 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 124832724 124832724 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.4002 p.I1334 0.980 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 62 0 0 52 21 28.7671 TMEM132B 0 genome.wustl.edu 37 12 126138772 126138772 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 126138772 126138772 A G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2753 p.N918S 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 99 0 0 81 39 32.5 GPR133 0 genome.wustl.edu 37 12 131490569 131490569 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 131490569 131490569 C A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1308 p.N436K 0.256 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 75 0 0 94 5 5.05051 ABCC9 0 genome.wustl.edu 37 12 21998761 21998761 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 21998761 21998761 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2872 p.E958K 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 34 0 0 27 5 15.625 FMNL3 0 genome.wustl.edu 37 12 50043301 50043301 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 50043301 50043301 C T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.2256 p.A752 0.984 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 103 0 0 69 79 53.3784 LRRIQ1 0 genome.wustl.edu 37 12 85531653 85531653 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 85531653 85531653 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4235 p.R1412Q 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 95 0 0 52 34 39.5349 CUL4A 0 genome.wustl.edu 37 13 113898739 113898739 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 13 113898739 113898739 C T SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known missense c.1244 p.S415L 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 23 0 0 23 5 17.8571 KIAA0226L 0 genome.wustl.edu 37 13 46924338 46924338 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 13 46924338 46924338 C A SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known silent c.1479 p.L493 0.793 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 12 0 0 14 3 17.6471 SPRY2 0 genome.wustl.edu 37 13 80911385 80911385 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 13 80911385 80911385 C T SNP SPRY2 ENST00000377102 human ensembl 74_37 -1 known silent c.456 p.V152 0.997 NULL pfam_Sprouty - no_errors SPRY2 HGNC ENSG00000136158 53 0 0 55 21 27.6316 DYNC1H1 0 genome.wustl.edu 37 14 102452723 102452723 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 102452723 102452723 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.2161 p.E721K 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 56 0 0 51 14 21.5385 LTB4R 0 genome.wustl.edu 37 14 24785118 24785118 + Silent SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 24785118 24785118 G C SNP LTB4R ENST00000345363 human ensembl 74_37 +1 known silent c.261 p.L87 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-1_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R HGNC ENSG00000213903 133 0 0 89 34 27.6423 CATSPERB 0 genome.wustl.edu 37 14 92174523 92174523 + Missense_Mutation SNP A A G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 14 92174523 92174523 A G SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.428 p.I143T 0.998 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 64 0 0 21 48 69.5652 MAGEL2 0 genome.wustl.edu 37 15 23890002 23890002 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 23890002 23890002 G T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.1079 p.A360E 0.783 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 36 0 0 26 6 18.75 SHF 0 genome.wustl.edu 37 15 45470482 45470482 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 45470482 45470482 G A SNP SHF ENST00000318390 human ensembl 74_37 -1 known missense c.497 p.A166V 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC ENSG00000138606 62 0 0 25 26 50.9804 MYO9A 0 genome.wustl.edu 37 15 72118997 72118997 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 72118997 72118997 C T SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.7784 p.R2595H 0.106 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 162 0 0 72 52 41.9355 RBBP6 0 genome.wustl.edu 37 16 24582621 24582621 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 24582621 24582621 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known nonsense c.4234 p.E1412* 0.712 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 67 0 0 78 14 15.2174 CLDN9 0 genome.wustl.edu 37 16 3063442 3063442 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 3063442 3063442 C T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.79 p.L27 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 63 0 0 60 27 31.0345 MGRN1 0 genome.wustl.edu 37 16 4715142 4715142 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 4715142 4715142 C T SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.668 p.A223V 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 49 0 0 41 8 16.3265 IRX6 0 genome.wustl.edu 37 16 55361504 55361504 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 55361504 55361504 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known silent c.420 p.G140 0.001 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 28 0 0 20 5 20 GNAO1 0 genome.wustl.edu 37 16 56385346 56385346 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 56385346 56385346 G A SNP GNAO1 ENST00000262493 human ensembl 74_37 +1 known silent c.774 p.K258 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 57 0 0 28 12 30 CLEC3A 0 genome.wustl.edu 37 16 78062022 78062022 + Missense_Mutation SNP A A T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 16 78062022 78062022 A T SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known missense c.161 p.K54M 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 114 0 0 99 17 14.6552 SMG6 0 genome.wustl.edu 37 17 2202240 2202240 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 2202240 2202240 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1807 p.R603C 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 251 0 0 278 39 12.3028 STARD3 0 genome.wustl.edu 37 17 37814753 37814753 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 37814753 37814753 C A SNP STARD3 ENST00000544210 human ensembl 74_37 +1 known missense c.512 p.P171H 0.145 NULL pfam_START_lipid-bd_dom,pfam_MENTAL,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 98 0 0 101 11 9.82143 FZD2 0 genome.wustl.edu 37 17 42635638 42635638 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 42635638 42635638 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.582 p.T194 0.961 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 12 0 0 14 3 17.6471 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 27 0 0 8 36 81.8182 CARD14 0 genome.wustl.edu 37 17 78176190 78176190 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 17 78176190 78176190 C A SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known silent c.2190 p.A730 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 58 0 0 52 3 5.45455 KLHL14 0 genome.wustl.edu 37 18 30321968 30321968 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 30321968 30321968 G C SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.992 p.P331R 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 56 0 0 37 12 24.4898 TCEB3B 0 genome.wustl.edu 37 18 44560458 44560458 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 44560458 44560458 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1178 p.R393Q 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 134 0 0 38 96 71.6418 ATP8B1 0 genome.wustl.edu 37 18 55398944 55398944 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 18 55398944 55398944 T G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.96 p.E32D 0.978 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 163 0 0 102 45 30.6122 SBNO2 0 genome.wustl.edu 37 19 1113620 1113620 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 1113620 1113620 T G SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.2161 p.K721Q 0.995 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 28 0 0 15 18 54.5455 MAST3 0 genome.wustl.edu 37 19 18254599 18254599 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 18254599 18254599 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2279 p.S760F 0.976 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 32 0 0 26 6 18.75 PLEKHF1 0 genome.wustl.edu 37 19 30164944 30164944 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 30164944 30164944 C T SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.198 p.S66 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 75 0 0 80 53 39.8496 SIPA1L3 0 genome.wustl.edu 37 19 38573567 38573567 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 38573567 38573567 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.1362 p.S454 0.007 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 72 0 0 69 16 18.8235 ZBTB7A 0 genome.wustl.edu 37 19 4055065 4055065 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 4055065 4055065 T C SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.166 p.S56G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 58 0 0 36 12 25 KLK5 0 genome.wustl.edu 37 19 51455845 51455845 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 51455845 51455845 G A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known silent c.69 p.V23 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 54 0 0 52 42 44.6809 PEG3 0 genome.wustl.edu 37 19 57327684 57327684 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 57327684 57327684 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2126 p.R709Q 0.992 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 81 0 0 68 13 16.0494 ZSCAN1 0 genome.wustl.edu 37 19 58549417 58549417 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 58549417 58549417 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.213 p.A71 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 39 0 0 12 34 73.913 ZNF266 0 genome.wustl.edu 37 19 9525139 9525139 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 19 9525139 9525139 T G SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.462 p.K154N 0.214 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 162 0 0 83 17 17 GREB1 0 genome.wustl.edu 37 2 11780553 11780553 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 11780553 11780553 C G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5823 p.L1941 0.999 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 125 0 0 119 21 15 PXDN 0 genome.wustl.edu 37 2 1653317 1653317 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 1653317 1653317 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2235 p.D745 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 184 0 0 101 89 46.8421 LRP2 0 genome.wustl.edu 37 2 170175292 170175292 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 170175292 170175292 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.290 p.S97L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 94 0 0 71 33 31.7308 SSFA2 0 genome.wustl.edu 37 2 182780324 182780324 + Nonsense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 182780324 182780324 G T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known nonsense c.1957 p.E653* 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 92 0 0 70 33 32.0388 ZNF804A 0 genome.wustl.edu 37 2 185802238 185802238 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 185802238 185802238 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2115 p.N705K 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 54 0 0 42 5 10.6383 RASGRP3 0 genome.wustl.edu 37 2 33749572 33749572 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 33749572 33749572 G A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.764 p.R255H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 17 0 0 5 7 58.3333 ABCG8 0 genome.wustl.edu 37 2 44100980 44100980 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 44100980 44100980 G A SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known silent c.1266 p.A422 0.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 228 1 0.436681 176 99 36 NRXN1 0 genome.wustl.edu 37 2 50765564 50765564 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 50765564 50765564 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1946 p.R649Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 379 0 0 254 127 33.3333 WDR54 0 genome.wustl.edu 37 2 74651071 74651071 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 2 74651071 74651071 C T SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.496 p.P166S 0.218 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 83 0 0 81 8 8.98876 MYH7B 0 genome.wustl.edu 37 20 33588304 33588304 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 33588304 33588304 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.5116 p.R1706W 0.956 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 29 0 0 71 8 10.1266 PTPRT 0 genome.wustl.edu 37 20 40747103 40747103 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 40747103 40747103 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2979 p.M993I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 73 0 0 90 38 29.6875 TBC1D20 0 genome.wustl.edu 37 20 420910 420910 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 420910 420910 C T SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known silent c.750 p.P250 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 19 0 0 28 7 20 TCFL5 0 genome.wustl.edu 37 20 61488983 61488983 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 20 61488983 61488983 C T SNP TCFL5 ENST00000335351 human ensembl 74_37 -1 known silent c.1002 p.A334 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCFL5 HGNC ENSG00000101190 62 0 0 78 22 22 TPTE 0 genome.wustl.edu 37 21 10933909 10933909 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 21 10933909 10933909 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.970 p.E324K 0.714 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 398 1 0.250627 345 74 17.6611 PNPLA5 0 genome.wustl.edu 37 22 44287076 44287076 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 44287076 44287076 G A SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known nonsense c.292 p.Q98* 0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 44 0 0 58 6 9.375 LINC00207 0 genome.wustl.edu 37 22 44966444 44966444 + RNA SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 44966444 44966444 G A SNP LINC00207 ENST00000334566 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00207 HGNC ENSG00000187012 33 0 0 46 4 8 GTSE1 0 genome.wustl.edu 37 22 46704833 46704833 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 22 46704833 46704833 C G SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.755 p.A252G 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 97 0 0 48 114 70.3704 SI 0 genome.wustl.edu 37 3 164733820 164733820 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 3 164733820 164733820 T G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3808 p.T1270P 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 SI HGNC ENSG00000090402 157 0 0 244 18 6.87023 SLC39A8 0 genome.wustl.edu 37 4 103189107 103189107 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 103189107 103189107 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.970 p.A324T 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 70 0 0 36 30 45.4545 NEUROG2 0 genome.wustl.edu 37 4 113435863 113435863 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 113435863 113435863 C T SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known missense c.769 p.D257N 0.992 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 43 0 0 28 13 31.7073 NDST3 0 genome.wustl.edu 37 4 118975750 118975750 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 118975750 118975750 G C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.685 p.A229P 0.155 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 130 0 0 83 19 18.6275 ANKRD50 0 genome.wustl.edu 37 4 125591335 125591335 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 125591335 125591335 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3097 p.E1033K 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 70 0 0 41 6 12.766 TENM3 0 genome.wustl.edu 37 4 183673128 183673128 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 183673128 183673128 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3805 p.E1269K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 46 0 0 20 19 48.7179 SLIT2 0 genome.wustl.edu 37 4 20620432 20620432 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 20620432 20620432 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4390 p.K1464Q 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 79 0 0 52 13 20 C4orf50 0 genome.wustl.edu 37 4 5966823 5966823 + Silent SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 5966823 5966823 T C SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known silent c.1929 p.S643 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 74 0 0 22 43 66.1538 CSN2 0 genome.wustl.edu 37 4 70823443 70823443 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 70823443 70823443 C A SNP CSN2 ENST00000353151 human ensembl 74_37 -1 known missense c.224 p.G75V 0.000 pirsf_Casein_beta pfam_Casein,pirsf_Casein_beta - no_errors CSN2 HGNC ENSG00000135222 100 0 0 83 23 21.6981 DCK 0 genome.wustl.edu 37 4 71888182 71888182 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 71888182 71888182 C G SNP DCK ENST00000286648 human ensembl 74_37 +1 known silent c.306 p.L102 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 92 0 0 40 66 62.2642 TMEM150C 0 genome.wustl.edu 37 4 83411301 83411301 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 4 83411301 83411301 G C SNP TMEM150C ENST00000449862 human ensembl 74_37 -1 known missense c.454 p.L152V 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150C HGNC ENSG00000249242 139 0 0 106 32 23.1884 PPIP5K2 0 genome.wustl.edu 37 5 102526614 102526614 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 102526614 102526614 C A SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.3424 p.Q1142K 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 90 0 0 31 9 22.5 KDM3B 0 genome.wustl.edu 37 5 137762666 137762666 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 137762666 137762666 C A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known silent c.4414 p.R1472 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 70 0 0 46 3 6.12245 IRX2 0 genome.wustl.edu 37 5 2748625 2748625 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 2748625 2748625 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.1197 p.N399 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 51 0 0 85 17 16.6667 PELO 0 genome.wustl.edu 37 5 52096552 52096552 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 5 52096552 52096552 C G SNP PELO ENST00000274311 human ensembl 74_37 +1 known silent c.324 p.R108 1.000 pfam_eRF1_1_Pelota,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 65 0 0 34 10 22.7273 PREP 0 genome.wustl.edu 37 6 105771632 105771632 + Missense_Mutation SNP G G T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 105771632 105771632 G T SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.1225 p.H409N 1.000 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 102 0 0 84 14 14.2857 UTRN 0 genome.wustl.edu 37 6 144876012 144876012 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 144876012 144876012 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.7117 p.Q2373K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 48 0 0 41 5 10.8696 NUP43 0 genome.wustl.edu 37 6 150052776 150052776 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 150052776 150052776 G A SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known missense c.886 p.P296S 0.847 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 60 0 0 37 27 42.1875 SLC17A4 0 genome.wustl.edu 37 6 25762200 25762200 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 25762200 25762200 G A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.10 p.G4R 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 58 0 0 78 6 7.14286 MRPS18B 0 genome.wustl.edu 37 6 30587356 30587356 + Silent SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 30587356 30587356 C A SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known silent c.165 p.P55 0.996 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 70 0 0 107 15 12.2951 COL21A1 0 genome.wustl.edu 37 6 55942347 55942347 + Nonsense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 55942347 55942347 G A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known nonsense c.1837 p.R613* 0.998 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 13 0 0 11 8 42.1053 KHDRBS2 0 genome.wustl.edu 37 6 62611216 62611216 + Nonsense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 62611216 62611216 C A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known nonsense c.544 p.E182* 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 106 0 0 86 17 16.5049 RIMS1 0 genome.wustl.edu 37 6 72596855 72596855 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 72596855 72596855 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.129 p.Q43 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 20 0 0 27 13 32.5 NYAP1 0 genome.wustl.edu 37 7 100087129 100087129 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 100087129 100087129 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.1785 p.T595 0.853 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 82 0 0 111 14 11.2 ZNF800 0 genome.wustl.edu 37 7 127014290 127014290 + Missense_Mutation SNP T T C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 127014290 127014290 T C SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1100 p.K367R 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 96 0 0 50 43 46.2366 ATG9B 0 genome.wustl.edu 37 7 150714316 150714316 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 150714316 150714316 G A SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.2096 p.A699V 1.000 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 31 0 0 36 3 7.69231 MEOX2 0 genome.wustl.edu 37 7 15666503 15666503 + Missense_Mutation SNP T T A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 15666503 15666503 T A SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.558 p.K186N 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 74 0 0 21 57 73.0769 DNAH11 0 genome.wustl.edu 37 7 21818680 21818680 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 21818680 21818680 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.9462 p.K3154N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 43 0 0 21 20 48.7805 AMPH 0 genome.wustl.edu 37 7 38433745 38433745 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 38433745 38433745 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1468 p.E490K 0.025 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 161 0 0 163 28 14.6597 GLI3 0 genome.wustl.edu 37 7 42005871 42005871 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 42005871 42005871 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2800 p.A934T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 43 0 0 21 25 54.3478 PRKAR1B 0 genome.wustl.edu 37 7 751114 751114 + Missense_Mutation SNP T T G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 751114 751114 T G SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.29 p.E10A 1.000 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 108 0 0 124 31 20 CCDC146 0 genome.wustl.edu 37 7 76908083 76908083 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 76908083 76908083 C T SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known silent c.1455 p.N485 0.003 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 31 0 0 14 8 36.3636 ASNS 0 genome.wustl.edu 37 7 97498323 97498323 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 7 97498323 97498323 C T SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.146 p.R49Q 0.999 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 57 0 0 29 27 48.2143 CSMD3 0 genome.wustl.edu 37 8 114186069 114186069 + Silent SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 114186069 114186069 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.591 p.G197 0.950 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 104 0 0 52 95 64.6259 PPP1R16A 0 genome.wustl.edu 37 8 145722662 145722662 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 145722662 145722662 C T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.85 p.R29W 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 25 0 0 23 27 54 MYOM2 0 genome.wustl.edu 37 8 2044181 2044181 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 2044181 2044181 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2220 p.S740 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 126 0 0 81 128 61.244 EBF2 0 genome.wustl.edu 37 8 25747377 25747377 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 25747377 25747377 C A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.642 p.L214F 0.998 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 75 0 0 128 17 11.7241 ADAM18 0 genome.wustl.edu 37 8 39550160 39550160 + Silent SNP A A T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 39550160 39550160 A T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known silent c.1863 p.G621 0.001 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 51 0 0 33 56 62.9213 TCEB1 0 genome.wustl.edu 37 8 74858991 74858991 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 74858991 74858991 C T SNP TCEB1 ENST00000520242 human ensembl 74_37 -1 known silent c.213 p.S71 0.994 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC ENSG00000154582 47 0 0 66 11 14.2857 POMT1 0 genome.wustl.edu 37 9 134385736 134385736 + Missense_Mutation SNP G G C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 9 134385736 134385736 G C SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.855 p.L285F 0.930 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 76 0 0 81 17 17.3469 C9orf173 0 genome.wustl.edu 37 9 140147643 140147643 + Missense_Mutation SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 9 140147643 140147643 C T SNP C9orf173 ENST00000388931 human ensembl 74_37 +1 known missense c.889 p.P297S 0.966 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 18 0 0 25 8 24.2424 MUM1L1 0 genome.wustl.edu 37 X 105451265 105451265 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 105451265 105451265 C G SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1840 p.Q614E 1.000 superfamily_PyrdxlP-dep_Trfase superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 34 0 0 25 4 13.7931 ATG4A 0 genome.wustl.edu 37 X 107381175 107381175 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 107381175 107381175 G A SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 389 0 0 239 64 21.1221 XIAP 0 genome.wustl.edu 37 X 123020262 123020262 + Silent SNP C C T TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 123020262 123020262 C T SNP XIAP ENST00000355640 human ensembl 74_37 +1 known silent c.750 p.F250 0.742 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 115 0 0 46 22 32.3529 GPR112 0 genome.wustl.edu 37 X 135431440 135431440 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 135431440 135431440 C G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.5575 p.Q1859E 0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 162 0 0 73 18 19.7802 MAMLD1 0 genome.wustl.edu 37 X 149639573 149639573 + Silent SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 149639573 149639573 G A SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known silent c.1653 p.P551 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 176 1 0.564972 95 36 27.4809 ZFP92 0 genome.wustl.edu 37 X 152686486 152686486 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 152686486 152686486 C G SNP ZFP92 ENST00000338647 human ensembl 74_37 +1 known missense c.651 p.F217L 0.210 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 ZFP92 HGNC ENSG00000189420 12 0 0 10 6 37.5 RBBP7 0 genome.wustl.edu 37 X 16871811 16871811 + Missense_Mutation SNP A A C TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 16871811 16871811 A C SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.752 p.L251R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 83 0 0 38 33 46.4789 MAGEB2 0 genome.wustl.edu 37 X 30237221 30237221 + Missense_Mutation SNP G G A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 30237221 30237221 G A SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.524 p.G175D 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 25 0 0 14 6 30 BCOR 0 genome.wustl.edu 37 X 39922090 39922090 + Missense_Mutation SNP C C G TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 39922090 39922090 C G SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.4082 p.R1361T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 36 0 0 28 7 20 BRWD3 0 genome.wustl.edu 37 X 79991559 79991559 + Missense_Mutation SNP C C A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb X 79991559 79991559 C A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.842 p.R281I 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 34 0 0 17 4 19.0476 C1RL 0 genome.wustl.edu 37 12 7249415 7249419 + Frame_Shift_Del DEL GCAGC GCAGC - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 GCAGC GCAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 12 7249415 7249419 GCAGC - DEL C1RL ENST00000266542 human ensembl 74_37 -1 known frame_shift_del c.1036_1032 p.L345fs 0.000:0.001:0.996:0.999:0.997 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 76 0 0 81 8 8.98876 DNM1P47 0 genome.wustl.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 15 102292874 102292876 CTC - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 14 0 0 16 2 11.1111 ASCC3 0 genome.wustl.edu 37 6 101127565 101127565 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 101127565 101127565 C - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.2215 p.A739fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 71 0 0 32 32 50 MARCKS 0 genome.wustl.edu 37 6 114181209 114181210 + Frame_Shift_Ins INS - - A TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 6 114181209 114181210 - A INS MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_ins c.453_454 p.K155fs 0.995:1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 17 0 0 26 6 18.75 C8orf44 0 genome.wustl.edu 37 8 67589988 67589988 + Frame_Shift_Del DEL C C - TCGA-D7-A6F0-01A-11D-A31L-08 TCGA-D7-A6F0-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e7a9a6d-c73c-479e-9952-1b651903c168 c4963ac0-b17d-4017-8a4e-054d20cdbeeb 8 67589988 67589988 C - DEL C8orf44 ENST00000390159 human ensembl 74_37 +1 known frame_shift_del c.45 p.I17fs 0.000 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 95 0 0 127 22 14.7651