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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABLIM3 0 genome.wustl.edu 37 5 148590290 148590290 + Missense_Mutation SNP G G T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 5 148590290 148590290 G T SNP ABLIM3 ENST00000309868 human ensembl 69_37n +1 known missense c.577 p.D193Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 339 0 0.00 181 46 20.26 - - - ARMC6 0 genome.wustl.edu 37 19 19162851 19162851 + Missense_Mutation SNP C C G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 19 19162851 19162851 C G SNP ARMC6 ENST00000392336 human ensembl 69_37n +1 known missense c.700 p.H234D 0.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 45 0 0.00 18 9 33.33 - - - ATHL1 0 genome.wustl.edu 37 11 289954 289954 + Missense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 11 289954 289954 C T SNP ATHL1 ENST00000482937 human ensembl 69_37n +1 known missense c.35 p.T12I 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATHL1 HGNC ENSG00000142102 36 0 0.00 20 10 33.33 - - - ATXN2 0 genome.wustl.edu 37 12 111951217 111951217 + Missense_Mutation SNP G G C TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 111951217 111951217 G C SNP ATXN2 ENST00000377617 human ensembl 69_37n -1 known missense c.1982 p.P661R 0.998 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 320 0 0.00 128 107 45.53 - - - CALD1 0 genome.wustl.edu 37 7 134613541 134613541 + Silent SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 7 134613541 134613541 G A SNP CALD1 ENST00000361388 human ensembl 69_37n +1 known silent c.108 p.E36 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 69 0 0.00 53 12 18.46 - - - CIC 0 genome.wustl.edu 37 19 42799050 42799050 + Missense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 19 42799050 42799050 C T SNP CIC ENST00000160740 human ensembl 69_37n +1 known missense c.4534 p.R1512C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 73 0 0.00 19 24 55.81 - - - COL4A6 0 genome.wustl.edu 37 X 107412746 107412746 + Missense_Mutation SNP T T C TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 107412746 107412746 T C SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.3673 p.R1225G 0.027 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 110 0 0.00 97 23 19.17 - - - EPG5 0 genome.wustl.edu 37 18 43503333 43503333 + Silent SNP T T C TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 18 43503333 43503333 T C SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known silent c.2739 p.Q913 0.575 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 143 0 0.00 99 13 11.61 - - - FGF23 0 genome.wustl.edu 37 12 4479664 4479664 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 4479664 4479664 G A SNP FGF23 ENST00000237837 human ensembl 69_37n -1 known missense c.601 p.P201S 0.005 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF23 HGNC ENSG00000118972 39 0 0.00 29 6 17.14 - - - FMN1 0 genome.wustl.edu 37 15 33359773 33359773 + Missense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 15 33359773 33359773 C T SNP FMN1 ENST00000334528 human ensembl 69_37n -1 known missense c.313 p.E105K 0.014 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 102 0 0.00 54 10 15.62 - - - GATA3 0 genome.wustl.edu 37 10 8115876 8115877 + Frame_Shift_Ins INS - - G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 10 8115876 8115877 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1225_1226 p.P409fs 1.000:0.998 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 215 0 0.00 125 38 23.31 - - - GATA3 0 genome.wustl.edu 37 10 8115877 8115877 + Missense_Mutation SNP C C A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 10 8115877 8115877 C A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.1226 p.P409H 0.998 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 213 0 0.00 124 39 23.64 - - - ICA1 0 genome.wustl.edu 37 7 8167582 8167583 + Frame_Shift_Del DEL GG GG - TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 7 8167582 8167583 GG - DEL ICA1 ENST00000422063 human ensembl 69_37n -1 known frame_shift_del c.1338_1337 p.P446fs 0.061:0.144 pfam_Islet_autoAg_Ica1_C pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ENSG00000003147 183 0 0.00 111 33 22.76 - - - IGKV3D-15 0 genome.wustl.edu 37 2 90154236 90154236 + Missense_Mutation SNP G G C TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 2 90154236 90154236 G C SNP IGKV3D-15 ENST00000417279 human ensembl 69_37n +1 known missense c.323 p.C108S 0.996 pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-15 HGNC ENSG00000224041 180 0 0.00 131 25 16.03 - - - KCNJ3 0 genome.wustl.edu 37 2 155711277 155711277 + Nonsense_Mutation SNP G G T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 2 155711277 155711277 G T SNP KCNJ3 ENST00000295101 human ensembl 69_37n +1 known nonsense c.958 p.E320* 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ3 HGNC ENSG00000162989 359 0 0.00 238 34 12.50 - - - KIDINS220 0 genome.wustl.edu 37 2 8926362 8926362 + Missense_Mutation SNP C C A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 2 8926362 8926362 C A SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.1913 p.R638L 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 98 0 0.00 69 27 28.12 - - - KIF14 0 genome.wustl.edu 37 1 200587127 200587128 + Frame_Shift_Del DEL CT CT - TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 1 200587127 200587128 CT - DEL KIF14 ENST00000367350 human ensembl 69_37n -1 known frame_shift_del c.725_724 p.S242fs 0.002:0.080 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 233 0 0.00 268 48 15.09 - - - KRT72 0 genome.wustl.edu 37 12 52981585 52981585 + Silent SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 52981585 52981585 G A SNP KRT72 ENST00000293745 human ensembl 69_37n -1 known silent c.1140 p.C380 0.004 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 83 0 0.00 62 24 27.91 - - - LRRN3 0 genome.wustl.edu 37 7 110763274 110763274 + Missense_Mutation SNP A A G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 7 110763274 110763274 A G SNP LRRN3 ENST00000308478 human ensembl 69_37n +1 known missense c.446 p.H149R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN3 HGNC ENSG00000173114 185 0 0.00 136 37 21.39 - - - LY75 0 genome.wustl.edu 37 2 160690697 160690697 + Silent SNP T T C TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 2 160690697 160690697 T C SNP LY75 ENST00000554112 human ensembl 69_37n -1 known silent c.3699 p.P1233 0.619 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 199 0 0.00 125 50 28.57 - - - MATN4 0 genome.wustl.edu 37 20 43926557 43926557 + Splice_Site SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 20 43926557 43926557 C T SNP MATN4 ENST00000372754 human ensembl 69_37n -1 known splice_site c.1702+1 e8+1 1.000 - - - no_errors MATN4 HGNC ENSG00000124159 68 0 0.00 48 20 28.99 - - - MND1 0 genome.wustl.edu 37 4 154335914 154335914 + Missense_Mutation SNP G G T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 4 154335914 154335914 G T SNP MND1 ENST00000240488 human ensembl 69_37n +1 known missense c.523 p.A175S 1.000 pfam_Mnd1,pirsf_Mnd1 pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 58 0 0.00 64 11 14.67 - - - MXRA5 0 genome.wustl.edu 37 X 3238284 3238284 + Missense_Mutation SNP A A T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 3238284 3238284 A T SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.5442 p.S1814R 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 336 0 0.00 278 70 20.11 - - - PET112 0 genome.wustl.edu 37 4 152640617 152640617 + Missense_Mutation SNP G G T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 4 152640617 152640617 G T SNP PET112 ENST00000263985 human ensembl 69_37n -1 known missense c.401 p.S134Y 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu - no_errors PET112 HGNC ENSG00000059691 416 0 0.00 392 76 16.24 - - - PIWIL1 0 genome.wustl.edu 37 12 130827177 130827177 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 130827177 130827177 G A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.41 p.R14H 0.917 pfam_GAGE pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 44 0 0.00 29 14 31.82 - - - PLCG1 0 genome.wustl.edu 37 20 39792360 39792360 + Silent SNP C C A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 20 39792360 39792360 C A SNP PLCG1 ENST00000244007 human ensembl 69_37n +1 known silent c.897 p.V299 1.000 pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 172 0 0.00 172 31 15.20 - - - PMEL 0 genome.wustl.edu 37 12 56349318 56349318 + Missense_Mutation SNP T T A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 56349318 56349318 T A SNP PMEL ENST00000549564 human ensembl 69_37n -1 known missense c.250 p.I84L 0.973 NULL NULL - no_start_codon PMEL HGNC ENSG00000185664 64 0 0.00 64 81 55.48 - - - PREX2 0 genome.wustl.edu 37 8 69000006 69000006 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 8 69000006 69000006 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.2075 p.R692Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 428 0 0.00 256 498 66.05 - - - PSMD6 0 genome.wustl.edu 37 3 64004302 64004302 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 3 64004302 64004302 G A SNP PSMD6 ENST00000295901 human ensembl 69_37n -1 known missense c.799 p.R267C 1.000 pfam_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 137 0 0.00 90 32 26.23 - - - RIBC1 0 genome.wustl.edu 37 X 53453289 53453289 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 53453289 53453289 G A SNP RIBC1 ENST00000375327 human ensembl 69_37n +1 known missense c.65 p.R22Q 0.976 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 261 0 0.00 157 100 38.91 - - - SCYL1 0 genome.wustl.edu 37 11 65293726 65293726 + Silent SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 11 65293726 65293726 C T SNP SCYL1 ENST00000270176 human ensembl 69_37n +1 known silent c.507 p.N169 0.839 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL1 HGNC ENSG00000142186 95 0 0.00 44 20 31.25 - - - SEMA3F 0 genome.wustl.edu 37 3 50225261 50225261 + Nonsense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 3 50225261 50225261 C T SNP SEMA3F ENST00000002829 human ensembl 69_37n +1 known nonsense c.2071 p.R691* 0.961 smart_Ig_sub pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3F HGNC ENSG00000001617 17 0 0.00 11 7 38.89 - - - SERINC5 0 genome.wustl.edu 37 5 79473765 79473765 + Missense_Mutation SNP C C G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 5 79473765 79473765 C G SNP SERINC5 ENST00000509193 human ensembl 69_37n -1 known missense c.317 p.C106S 0.990 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 301 0 0.00 177 57 24.36 - - - SHROOM2 0 genome.wustl.edu 37 X 9914800 9914800 + Silent SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 9914800 9914800 C T SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known silent c.4674 p.I1558 0.480 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 103 0 0.00 65 31 32.29 - - - SMC1A 0 genome.wustl.edu 37 X 53432455 53432455 + Silent SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 53432455 53432455 G A SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known silent c.1881 p.R627 0.998 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 74 0 0.00 79 11 12.22 - - - TBX3 0 genome.wustl.edu 37 12 115120697 115120698 + Frame_Shift_Ins INS - - GACC TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 115120697 115120698 - GACC INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.309_308 p.K104fs 0.967:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 56 0 0.00 47 9 16.07 - - - TCTE1 0 genome.wustl.edu 37 6 44250153 44250153 + Silent SNP C C A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 6 44250153 44250153 C A SNP TCTE1 ENST00000371505 human ensembl 69_37n -1 known silent c.990 p.L330 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 225 0 0.00 142 45 24.06 - - - TMEM200A 0 genome.wustl.edu 37 6 130762622 130762622 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 6 130762622 130762622 G A SNP TMEM200A ENST00000296978 human ensembl 69_37n +1 known missense c.1055 p.G352E 0.933 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 126 0 0.00 72 33 31.43 - - - TNIK 0 genome.wustl.edu 37 3 170846562 170846562 + Missense_Mutation SNP T T G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 3 170846562 170846562 T G SNP TNIK ENST00000436636 human ensembl 69_37n -1 known missense c.1714 p.S572R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 198 0 0.00 137 39 22.16 - - - TSC1 0 genome.wustl.edu 37 9 135772688 135772688 + Missense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 9 135772688 135772688 C T SNP TSC1 ENST00000298552 human ensembl 69_37n -1 known missense c.2858 p.R953K 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 231 0 0.00 148 167 53.02 - - - TSC22D3 0 genome.wustl.edu 37 X 106957953 106957953 + Silent SNP A A G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 X 106957953 106957953 A G SNP TSC22D3 ENST00000315660 human ensembl 69_37n -1 known silent c.399 p.Y133 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 174 0 0.00 173 43 19.91 - - - UCP3 0 genome.wustl.edu 37 11 73714978 73714978 + Missense_Mutation SNP C C T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 11 73714978 73714978 C T SNP UCP3 ENST00000314032 human ensembl 69_37n -1 known missense c.718 p.V240M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 62 0 0.00 55 21 27.63 - - - VWF 0 genome.wustl.edu 37 12 6230460 6230460 + Nonsense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 12 6230460 6230460 G A SNP VWF ENST00000261405 human ensembl 69_37n -1 known nonsense c.100 p.R34* 0.642 pirsf_VWF,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 104 0 0.00 121 24 16.55 - - - WDR72 0 genome.wustl.edu 37 15 53889357 53889358 + Frame_Shift_Del DEL CA CA - TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 15 53889357 53889358 CA - DEL WDR72 ENST00000360509 human ensembl 69_37n -1 known frame_shift_del c.3067_3066 p.C1022fs 0.055:0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 423 0 0.00 249 63 20.19 - - - XCR1 0 genome.wustl.edu 37 3 46062898 46062898 + Missense_Mutation SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 3 46062898 46062898 G A SNP XCR1 ENST00000309285 human ensembl 69_37n -1 known missense c.542 p.T181M 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 141 0 0.00 81 24 22.86 - - - ZFP36L1 0 genome.wustl.edu 37 14 69256807 69256807 + Nonsense_Mutation SNP T T A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 14 69256807 69256807 T A SNP ZFP36L1 ENST00000336440 human ensembl 69_37n -1 known nonsense c.460 p.K154* 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 114 0 0.00 14 34 70.83 - - - ZNF658 0 genome.wustl.edu 37 9 40773232 40773232 + Silent SNP T T G TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 9 40773232 40773232 T G SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known silent c.2043 p.T681 0.091 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 ZNF658 HGNC ENSG00000196409 258 0 0.00 94 57 37.75 - - - ZNF700 0 genome.wustl.edu 37 19 12059318 12059318 + Missense_Mutation SNP G G T TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 19 12059318 12059318 G T SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.479 p.G160V 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 278 0 0.00 91 49 35.00 - - - ZSWIM6 0 genome.wustl.edu 37 5 60839535 60839535 + Silent SNP G G A TCGA-C8-A1HN-01A-11D-A135-09 TCGA-C8-A1HN-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2576147-28eb-460f-9b97-916892d801e2 66a18ff8-0467-4423-aca0-0cbcec0e4513 5 60839535 60839535 G A SNP ZSWIM6 ENST00000252744 human ensembl 69_37n +1 known silent c.3039 p.A1013 0.313 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 65 0 0.00 37 21 36.21 - - -