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 ACSM4 0 genome.wustl.edu 37 12 7475135 7475135 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 12 7475135 7475135 G T SNP ACSM4 ENST00000399422 human ensembl 69_37n +1 novel missense c.1123 p.V375L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 317 0 0.00 228 111 32.74 - - - ADAM30 0 genome.wustl.edu 37 1 120438621 120438621 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 120438621 120438621 C A SNP ADAM30 ENST00000369400 human ensembl 69_37n -1 known missense c.339 p.M113I 0.031 pfam_Peptidase_M12B_N 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 155 0 0.00 136 58 29.90 - - - AKTIP 0 genome.wustl.edu 37 16 53534164 53534164 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 16 53534164 53534164 G C SNP AKTIP ENST00000300245 human ensembl 69_37n -1 known missense c.8 p.P3R 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 341 0 0.00 357 132 26.99 - - - ARFGAP2 0 genome.wustl.edu 37 11 47193042 47193042 + Missense_Mutation SNP T T G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 11 47193042 47193042 T G SNP ARFGAP2 ENST00000527776 human ensembl 69_37n -1 novel missense c.67 p.T23P 0.521 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARFGAP2 HGNC ENSG00000149182 698 0 0.00 54 249 82.18 - - - ARID1B 0 genome.wustl.edu 37 6 157522383 157522383 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 6 157522383 157522383 G A SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.4775 p.R1592K 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 174 0 0.00 17 82 82.83 - - - ASPM 0 genome.wustl.edu 37 1 197073197 197073197 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 197073197 197073197 C A SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.5184 p.M1728I 0.012 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 271 0 0.00 162 111 40.66 - - - ASXL3 0 genome.wustl.edu 37 18 31320313 31320313 + Missense_Mutation SNP T T A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 18 31320313 31320313 T A SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.2945 p.I982K 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 151 0 0.00 81 52 39.10 - - - B4GALT1 0 genome.wustl.edu 37 9 33116073 33116073 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 9 33116073 33116073 A G SNP B4GALT1 ENST00000379731 human ensembl 69_37n -1 known missense c.875 p.L292P 0.997 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT1 HGNC ENSG00000086062 416 0 0.00 441 137 23.70 - - - C12orf55 0 genome.wustl.edu 37 12 97045441 97045441 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 12 97045441 97045441 C A SNP C12orf55 ENST00000342887 human ensembl 69_37n +1 known missense c.223 p.L75I 0.933 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 477 1 0.21 298 175 36.92 - - - C2orf78 0 genome.wustl.edu 37 2 74042839 74042839 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 74042839 74042839 G C SNP C2orf78 ENST00000409561 human ensembl 69_37n +1 novel missense c.1489 p.D497H 0.004 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 290 0 0.00 283 101 26.30 - - - C9orf84 0 genome.wustl.edu 37 9 114464479 114464479 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 9 114464479 114464479 C A SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known missense c.2803 p.A935S 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 195 0 0.00 103 95 47.98 - - - CD86 0 genome.wustl.edu 37 3 121828123 121828123 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 3 121828123 121828123 C G SNP CD86 ENST00000330540 human ensembl 69_37n +1 known missense c.715 p.P239A 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD86 HGNC ENSG00000114013 257 0 0.00 150 121 44.65 - - - CHD1L 0 genome.wustl.edu 37 1 146759365 146759365 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 146759365 146759365 G C SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known missense c.2273 p.R758P 1.000 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 310 0 0.00 400 184 31.51 - - - CHRNA1 0 genome.wustl.edu 37 2 175613362 175613362 + Silent SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 175613362 175613362 G A SNP CHRNA1 ENST00000261007 human ensembl 69_37n -1 known silent c.1263 p.I421 0.022 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 358 1 0.28 240 191 44.21 - - - CLRN2 0 genome.wustl.edu 37 4 17528460 17528460 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 4 17528460 17528460 A G SNP CLRN2 ENST00000511148 human ensembl 69_37n +1 known missense c.454 p.I152V 0.933 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 151 0 0.00 23 76 76.00 - - - CNTNAP2 0 genome.wustl.edu 37 7 146829361 146829361 + Nonsense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 7 146829361 146829361 G T SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known nonsense c.1108 p.E370* 1.000 superfamily_ConA-like_lec_gl pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 233 0 0.00 157 234 59.69 - - - COL5A2 0 genome.wustl.edu 37 2 189928732 189928732 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 189928732 189928732 C G SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.1744 p.G582R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 332 0 0.00 173 147 45.79 - - - CPXM1 0 genome.wustl.edu 37 20 2775057 2775057 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 20 2775057 2775057 G A SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.1984 p.R662C 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 59 0 0.00 32 19 37.25 - - - CPXM1 0 genome.wustl.edu 37 20 2775057 2775057 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 20 2775057 2775057 G A SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.1984 p.R662C 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 49 0 0.00 32 19 37.25 - - - CSMD2 0 genome.wustl.edu 37 1 34254306 34254306 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 34254306 34254306 C A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.1558 p.G520C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 234 0 0.00 252 113 30.96 - - - CUL7 0 genome.wustl.edu 37 6 43017144 43017144 + Splice_Site SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 6 43017144 43017144 C T SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known splice_site c.2077+1 e7+1 0.960 - - - no_errors CUL7 HGNC ENSG00000044090 152 0 0.00 100 60 37.50 - - - DOCK9 0 genome.wustl.edu 37 13 99498297 99498297 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 13 99498297 99498297 C A SNP DOCK9 ENST00000450257 human ensembl 69_37n -1 known missense c.100 p.D34Y 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon DOCK9 HGNC ENSG00000088387 203 0 0.00 251 114 31.15 - - - EFR3A 0 genome.wustl.edu 37 8 132966110 132966110 + Silent SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 8 132966110 132966110 A G SNP EFR3A ENST00000254624 human ensembl 69_37n +1 known silent c.534 p.K178 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 158 0 0.00 67 142 67.94 - - - ETS2 0 genome.wustl.edu 37 21 40188980 40188980 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 21 40188980 40188980 C T SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known missense c.554 p.T185I 0.930 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 269 1 0.37 139 211 60.29 - - - FLJ43860 0 genome.wustl.edu 37 8 142481164 142481164 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 8 142481164 142481164 C T SNP FLJ43860 ENST00000430863 human ensembl 69_37n -1 known missense c.1997 p.C666Y 0.030 NULL NULL - pseudogene AC100803.1 Clone_based_vega_gene ENSG00000226807 158 0 0.00 167 71 29.83 - - - FRAS1 0 genome.wustl.edu 37 4 79340212 79340212 + Missense_Mutation SNP A A T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 4 79340212 79340212 A T SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.4535 p.N1512I 0.046 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 332 0 0.00 184 173 48.46 - - - FURIN 0 genome.wustl.edu 37 15 91423399 91423399 + Silent SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 15 91423399 91423399 G A SNP FURIN ENST00000268171 human ensembl 69_37n +1 known silent c.1452 p.L484 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 27 0 0.00 24 17 41.46 - - - GPD2 0 genome.wustl.edu 37 2 157407221 157407221 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 157407221 157407221 A G SNP GPD2 ENST00000310454 human ensembl 69_37n +1 known missense c.934 p.S312G 0.996 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2 - no_errors GPD2 HGNC ENSG00000115159 222 0 0.00 142 108 42.86 - - - GPR35 0 genome.wustl.edu 37 2 241569563 241569563 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 241569563 241569563 C T SNP GPR35 ENST00000438013 human ensembl 69_37n +1 known missense c.287 p.A96V 0.155 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR35 HGNC ENSG00000178623 51 0 0.00 26 23 46.94 - - - HLF 0 genome.wustl.edu 37 17 53398125 53398125 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 17 53398125 53398125 C G SNP HLF ENST00000226067 human ensembl 69_37n +1 known missense c.773 p.S258W 0.999 pfam_bZIP_2,smart_bZIP,pfscan_bZIP pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 36 0 0.00 5 28 84.85 - - - HRC 0 genome.wustl.edu 37 19 49658427 49658427 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 19 49658427 49658427 G T SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.68 p.P23H 0.987 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 86 0 0.00 46 36 43.37 - - - HRC 0 genome.wustl.edu 37 19 49658427 49658427 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 49658427 49658427 G T SNP HRC ENST00000252825 human ensembl 69_37n -1 known missense c.68 p.P23H 0.987 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 109 1 0.91 46 36 43.37 - - - HRH3 0 genome.wustl.edu 37 20 60794857 60794857 + Missense_Mutation SNP A A T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 20 60794857 60794857 A T SNP HRH3 ENST00000317393 human ensembl 69_37n -1 known missense c.170 p.L57H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H3_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC ENSG00000101180 25 0 0.00 17 9 34.62 - - - HRH3 0 genome.wustl.edu 37 20 60794857 60794857 + Missense_Mutation SNP A A T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 20 60794857 60794857 A T SNP HRH3 ENST00000317393 human ensembl 69_37n -1 known missense c.170 p.L57H 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H3_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC ENSG00000101180 22 0 0.00 17 9 34.62 - - - IGBP1 0 genome.wustl.edu 37 X 69353826 69353826 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 X 69353826 69353826 C T SNP IGBP1 ENST00000342206 human ensembl 69_37n +1 known missense c.29 p.P10L 0.979 NULL pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 103 1 0.96 54 46 46.00 - - - IGBP1 0 genome.wustl.edu 37 X 69353826 69353826 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 69353826 69353826 C T SNP IGBP1 ENST00000342206 human ensembl 69_37n +1 known missense c.29 p.P10L 0.979 NULL pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 87 0 0.00 54 46 46.00 - - - IGSF1 0 genome.wustl.edu 37 X 130408820 130408820 + Nonsense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 130408820 130408820 C T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known nonsense c.3519 p.W1173* 1.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 147 0 0.00 160 69 30.13 - - - IL2RB 0 genome.wustl.edu 37 22 37540124 37540124 + Splice_Site SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 22 37540124 37540124 C A SNP IL2RB ENST00000216223 human ensembl 69_37n -1 known splice_site c.88+1 e1+1 0.989 - - - no_errors IL2RB HGNC ENSG00000100385 134 0 0.00 85 60 41.10 - - - IPO13 0 genome.wustl.edu 37 1 44422562 44422562 + Silent SNP T T C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 44422562 44422562 T C SNP IPO13 ENST00000372343 human ensembl 69_37n +1 known silent c.1185 p.D395 0.996 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 62 0 0.00 39 27 40.91 - - - IQGAP3 0 genome.wustl.edu 37 1 156498803 156498803 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 156498803 156498803 C G SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.4476 p.Q1492H 0.988 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 168 1 0.59 167 74 30.58 - - - IRAK1 0 genome.wustl.edu 37 X 153278098 153278098 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 153278098 153278098 C T SNP IRAK1 ENST00000455690 human ensembl 69_37n -1 putative missense c.311 p.R104H 0.000 NULL NULL - no_start_codon IRAK1 HGNC ENSG00000184216 55 0 0.00 44 69 60.00 - - - KIAA1109 0 genome.wustl.edu 37 4 123207765 123207765 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 4 123207765 123207765 C T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.9107 p.T3036I 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 435 0 0.00 218 176 44.67 - - - KIAA1210 0 genome.wustl.edu 37 X 118221420 118221420 + Missense_Mutation SNP A A T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 118221420 118221420 A T SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.3773 p.M1258K 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 104 0 0.00 62 55 47.01 - - - KRTAP4-16P 0 genome.wustl.edu 37 17 39258031 39258031 + Missense_Mutation SNP T T C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 17 39258031 39258031 T C SNP KRTAP4-16P ENST00000440582 human ensembl 69_37n -1 putative missense c.431 p.Y144C 0.980 NULL NULL - no_errors KRTAP4-16P HGNC ENSG00000241241 22 0 0.00 1 4 80.00 - - - KRTAP4-16P 0 genome.wustl.edu 37 17 39258031 39258031 + Missense_Mutation SNP T T C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 17 39258031 39258031 T C SNP KRTAP4-16P ENST00000440582 human ensembl 69_37n -1 putative missense c.431 p.Y144C 0.980 NULL NULL - no_errors KRTAP4-16P HGNC ENSG00000241241 25 0 0.00 1 4 80.00 - - - LETMD1 0 genome.wustl.edu 37 12 51450235 51450235 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 12 51450235 51450235 G A SNP LETMD1 ENST00000262055 human ensembl 69_37n +1 known missense c.865 p.A289T 0.997 pfam_LETM1 pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 182 0 0.00 93 78 45.09 - - - LOXHD1 0 genome.wustl.edu 37 18 44157812 44157812 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 18 44157812 44157812 C T SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.1828 p.E610K 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 79 0 0.00 56 41 42.27 - - - LRRN2 0 genome.wustl.edu 37 1 204588156 204588156 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 204588156 204588156 C T SNP LRRN2 ENST00000367175 human ensembl 69_37n -1 known missense c.965 p.R322Q 0.982 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 69 0 0.00 33 22 40.00 - - - LUZP1 0 genome.wustl.edu 37 1 23419726 23419727 + Frame_Shift_Del DEL TA TA - TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 23419726 23419727 TA - DEL LUZP1 ENST00000302291 human ensembl 69_37n -1 known frame_shift_del c.1029_1028 p.I343fs 0.998:1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 678 0 0.00 394 297 42.98 - - - MAB21L2 0 genome.wustl.edu 37 4 151504781 151504781 + Silent SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 4 151504781 151504781 G C SNP MAB21L2 ENST00000317605 human ensembl 69_37n +1 known silent c.600 p.V200 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 16 0 0.00 15 9 37.50 - - - MASP2 0 genome.wustl.edu 37 1 11107016 11107016 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 11107016 11107016 G A SNP MASP2 ENST00000400897 human ensembl 69_37n -1 known missense c.166 p.R56C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 54 0 0.00 45 9 16.36 - - - MDM2 0 genome.wustl.edu 37 12 69202261 69202261 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 12 69202261 69202261 G C SNP MDM2 ENST00000462284 human ensembl 69_37n +1 known missense c.4 p.V2L 0.064 NULL pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 81 0 0.00 9 67 88.16 - - - MIR522 0 genome.wustl.edu 37 19 54254529 54254529 + RNA SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 54254529 54254529 C G SNP MIR522 ENST00000385071 human ensembl 69_37n +1 known rna NULL NULL 0.203 - - - no_errors MIR522 HGNC ENSG00000207806 430 0 0.00 224 162 41.97 - - - MYCBP2 0 genome.wustl.edu 37 13 77644815 77644815 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 13 77644815 77644815 A G SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.11855 p.M3952T 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 306 0 0.00 34 281 89.21 - - - NACA 0 genome.wustl.edu 37 12 57110900 57110900 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 12 57110900 57110900 G T SNP NACA ENST00000454682 human ensembl 69_37n -1 known missense c.4414 p.P1472T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 51 0 0.00 23 4 14.81 - - - NACA 0 genome.wustl.edu 37 12 57110900 57110900 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 12 57110900 57110900 G T SNP NACA ENST00000454682 human ensembl 69_37n -1 known missense c.4414 p.P1472T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 56 0 0.00 23 4 14.81 - - - NOMO3 0 genome.wustl.edu 37 16 16349580 16349580 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 16 16349580 16349580 G A SNP NOMO3 ENST00000399336 human ensembl 69_37n +1 known missense c.967 p.V323M 0.997 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 423 0 0.00 227 154 40.42 - - - OR10H2 0 genome.wustl.edu 37 19 15838966 15838966 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 15838966 15838966 C T SNP OR10H2 ENST00000305899 human ensembl 69_37n +1 known missense c.113 p.T38M 0.994 pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 345 0 0.00 170 147 46.37 - - - PANX2 0 genome.wustl.edu 37 22 50617594 50617595 + Frame_Shift_Ins INS - - CC TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 22 50617594 50617595 - CC INS PANX2 ENST00000395842 human ensembl 69_37n +1 known frame_shift_ins c.1922_1923 p.R643fs 0.106:0.002 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 29 0 0.00 4 2 33.33 - - - PANX2 0 genome.wustl.edu 37 22 50617594 50617595 + Frame_Shift_Ins INS - - CC TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 22 50617594 50617595 - CC INS PANX2 ENST00000395842 human ensembl 69_37n +1 known frame_shift_ins c.1922_1923 p.R643fs 0.106:0.002 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 14 0 0.00 4 2 33.33 - - - PCDHGA5 0 genome.wustl.edu 37 5 140746002 140746002 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 5 140746002 140746002 G C SNP PCDHGA5 ENST00000518069 human ensembl 69_37n +1 known missense c.2105 p.C702S 0.933 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 43 0 0.00 7 30 81.08 - - - PEG3 0 genome.wustl.edu 37 19 57326308 57326308 + Missense_Mutation SNP A A C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 57326308 57326308 A C SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.3502 p.C1168G 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 165 0 0.00 81 88 52.07 - - - PHEX 0 genome.wustl.edu 37 X 22208620 22208620 + Splice_Site SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 22208620 22208620 G A SNP PHEX ENST00000379374 human ensembl 69_37n +1 known splice_site c.1645+1 e15+1 0.999 - - - no_errors PHEX HGNC ENSG00000102174 372 0 0.00 208 175 45.69 - - - PLCE1 0 genome.wustl.edu 37 10 96030357 96030357 + Missense_Mutation SNP A A C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 10 96030357 96030357 A C SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known missense c.4504 p.K1502Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 212 0 0.00 124 101 44.89 - - - POU2F1 0 genome.wustl.edu 37 1 167367365 167367365 + Missense_Mutation SNP T T G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 167367365 167367365 T G SNP POU2F1 ENST00000367866 human ensembl 69_37n +1 known missense c.1264 p.L422V 0.977 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 446 0 0.00 439 176 28.62 - - - PPM1B 0 genome.wustl.edu 37 2 44457678 44457678 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 44457678 44457678 G C SNP PPM1B ENST00000282412 human ensembl 69_37n +1 known missense c.1261 p.A421P 1.000 NULL pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1B HGNC ENSG00000138032 154 0 0.00 151 68 29.31 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040158 49040158 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 671469b6-2cc7-4236-95d3-3e3f73e08ea3 X 49040158 49040158 G T SNP PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known missense c.137 p.A46D 0.001 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 31 0 0.00 23 4 14.81 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040158 49040158 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 X 49040158 49040158 G T SNP PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known missense c.137 p.A46D 0.001 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 32 0 0.00 23 4 14.81 - - - PTPN7 0 genome.wustl.edu 37 1 202119541 202119541 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 202119541 202119541 C G SNP PTPN7 ENST00000309017 human ensembl 69_37n -1 known missense c.1202 p.G401A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 101 0 0.00 53 56 51.38 - - - PTPRE 0 genome.wustl.edu 37 10 129875909 129875909 + Missense_Mutation SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 10 129875909 129875909 G A SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known missense c.1754 p.R585Q 0.937 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 38 0 0.00 2 23 92.00 - - - RBM24 0 genome.wustl.edu 37 6 17283067 17283067 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 6 17283067 17283067 G C SNP RBM24 ENST00000379052 human ensembl 69_37n +1 known missense c.200 p.R67T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 211 0 0.00 130 98 42.98 - - - RNF130 0 genome.wustl.edu 37 5 179440193 179440193 + Silent SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 5 179440193 179440193 C A SNP RNF130 ENST00000521389 human ensembl 69_37n -1 known silent c.561 p.P187 0.086 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF130 HGNC ENSG00000113269 176 0 0.00 18 98 83.76 - - - SAMD1 0 genome.wustl.edu 37 19 14199331 14199331 + Silent SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 14199331 14199331 C T SNP SAMD1 ENST00000533683 human ensembl 69_37n -1 novel silent c.1197 p.L399 1.000 pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 89 0 0.00 61 50 45.05 - - - SCFD2 0 genome.wustl.edu 37 4 53752015 53752015 + Missense_Mutation SNP T T A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 4 53752015 53752015 T A SNP SCFD2 ENST00000401642 human ensembl 69_37n -1 known missense c.1861 p.S621C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 120 0 0.00 75 77 50.66 - - - SERPINB3 0 genome.wustl.edu 37 18 61325830 61325830 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 18 61325830 61325830 G C SNP SERPINB3 ENST00000283752 human ensembl 69_37n -1 known missense c.386 p.T129S 0.792 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB3 HGNC ENSG00000057149 660 0 0.00 303 279 47.94 - - - SLC29A3 0 genome.wustl.edu 37 10 73111428 73111428 + Missense_Mutation SNP T T C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 10 73111428 73111428 T C SNP SLC29A3 ENST00000373189 human ensembl 69_37n +1 known missense c.493 p.F165L 1.000 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 153 0 0.00 87 66 43.14 - - - SLC4A5 0 genome.wustl.edu 37 2 74474219 74474219 + Missense_Mutation SNP T T A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 74474219 74474219 T A SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known missense c.2003 p.D668V 0.999 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 248 0 0.00 242 89 26.49 - - - SLC5A5 0 genome.wustl.edu 37 19 17985316 17985316 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 17985316 17985316 G T SNP SLC5A5 ENST00000222248 human ensembl 69_37n +1 known missense c.437 p.G146V 0.999 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 189 1 0.53 110 87 43.94 - - - SNORD32A 0 genome.wustl.edu 37 19 49993282 49993282 + RNA SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 49993282 49993282 C T SNP SNORD32A ENST00000364805 human ensembl 69_37n +1 known rna NULL NULL 0.998 - - - no_errors SNORD32A HGNC ENSG00000201675 13 0 0.00 7 7 46.67 - - - SNX10 0 genome.wustl.edu 37 7 26412173 26412173 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 7 26412173 26412173 C G SNP SNX10 ENST00000446848 human ensembl 69_37n +1 known missense c.665 p.T222R 0.020 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX10 HGNC ENSG00000086300 331 0 0.00 172 275 61.52 - - - SPAST 0 genome.wustl.edu 37 2 32379525 32379525 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 32379525 32379525 A G SNP SPAST ENST00000315285 human ensembl 69_37n +1 known missense c.1811 p.Y604C 1.000 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 244 0 0.00 268 138 33.99 - - - STAT4 0 genome.wustl.edu 37 2 191900935 191900935 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 191900935 191900935 C T SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known missense c.1525 p.G509S 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 274 0 0.00 137 147 51.76 - - - SYMPK 0 genome.wustl.edu 37 19 46319242 46319242 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 46319242 46319242 G C SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known missense c.3554 p.S1185C 0.007 NULL pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 9 0 0.00 2 7 77.78 - - - TBC1D23 0 genome.wustl.edu 37 3 100015073 100015073 + Missense_Mutation SNP C C G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 3 100015073 100015073 C G SNP TBC1D23 ENST00000394144 human ensembl 69_37n +1 known missense c.830 p.S277C 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 263 0 0.00 167 130 43.62 - - - TDRD5 0 genome.wustl.edu 37 1 179609514 179609514 + Silent SNP G G A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 179609514 179609514 G A SNP TDRD5 ENST00000444136 human ensembl 69_37n +1 known silent c.1734 p.K578 0.999 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 447 1 0.22 227 216 48.76 - - - TMEM18 0 genome.wustl.edu 37 2 675561 675561 + Missense_Mutation SNP A A T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 675561 675561 A T SNP TMEM18 ENST00000281017 human ensembl 69_37n -1 known missense c.127 p.C43S 0.141 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 185 0 0.00 157 76 31.93 - - - TMEM51 0 genome.wustl.edu 37 1 15541910 15541910 + Missense_Mutation SNP C C A TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 15541910 15541910 C A SNP TMEM51 ENST00000303840 human ensembl 69_37n +1 known missense c.327 p.H109Q 0.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 14 0 0.00 7 14 66.67 - - - TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 17 7578265 7578265 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.584 p.I195T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 295 0 0.00 34 145 81.01 - - - TRIM43 0 genome.wustl.edu 37 2 96259815 96259815 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 96259815 96259815 G C SNP TRIM43 ENST00000272395 human ensembl 69_37n +1 known missense c.44 p.C15S 0.061 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM43 HGNC ENSG00000144015 370 0 0.00 190 146 43.32 - - - TTN 0 genome.wustl.edu 37 2 179585241 179585241 + Missense_Mutation SNP T T G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 179585241 179585241 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.19516 p.I6506L 0.978 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 314 0 0.00 190 140 42.30 - - - TTN 0 genome.wustl.edu 37 2 179592849 179592849 + Missense_Mutation SNP A A C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 2 179592849 179592849 A C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.15970 p.L5324V 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 145 0 0.00 77 72 48.32 - - - UGGT2 0 genome.wustl.edu 37 13 96547535 96547535 + Silent SNP A A G TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 13 96547535 96547535 A G SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known silent c.2658 p.D886 0.989 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 269 0 0.00 27 394 93.59 - - - VANGL2 0 genome.wustl.edu 37 1 160388826 160388826 + Missense_Mutation SNP C C T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 1 160388826 160388826 C T SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.227 p.T76M 0.996 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 72 0 0.00 64 26 28.89 - - - ZNF100 0 genome.wustl.edu 37 19 21909523 21909523 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 21909523 21909523 G C SNP ZNF100 ENST00000358296 human ensembl 69_37n -1 known missense c.1591 p.Q531E 0.933 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 ZNF100 HGNC ENSG00000197020 223 0 0.00 97 71 42.26 - - - ZNF181 0 genome.wustl.edu 37 19 35232115 35232115 + Missense_Mutation SNP G G T TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5517dcca-46e7-4d0c-ba4f-193343f590d6 7d23b5bb-cacb-4c49-a6f0-b1293bccd644 19 35232115 35232115 G T SNP ZNF181 ENST00000492450 human ensembl 69_37n +1 known missense c.829 p.G277C 0.206 pfam_Znf_C2H2,smart_Znf_BED_prd,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 265 0 0.00 145 116 44.44 - - -