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 AMY2B 0 genome.wustl.edu 37 1 104122108 104122108 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 104122108 104122108 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1522 p.E508K 0.918 smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 209 0 0 126 12 8.69565 CA14 0 genome.wustl.edu 37 1 150230572 150230572 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 150230572 150230572 G A SNP CA14 ENST00000369111 human ensembl 74_37 +1 known missense c.49 p.D17N 0.393 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 38 0 0 15 4 21.0526 FLG 0 genome.wustl.edu 37 1 152276266 152276266 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 152276266 152276266 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11096 p.R3699Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 265 0 0 175 26 12.9353 FLG 0 genome.wustl.edu 37 1 152277297 152277297 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 152277297 152277297 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.10065 p.V3355 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 653 0 0 427 71 14.257 RUSC1 0 genome.wustl.edu 37 1 155291803 155291803 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 155291803 155291803 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.239 p.G80D 0.004 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 45 0 0 28 3 9.67742 OR6K3 0 genome.wustl.edu 37 1 158687131 158687131 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 158687131 158687131 A C SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.823 p.L275V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 130 0 0 75 10 11.7647 FCER1A 0 genome.wustl.edu 37 1 159272174 159272174 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 159272174 159272174 C T SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.20 p.S7F 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 213 0 0 127 10 7.29927 MROH9 0 genome.wustl.edu 37 1 170965696 170965696 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 170965696 170965696 A C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1386 p.Q462H 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 145 0 0 93 11 10.5769 DNM3 0 genome.wustl.edu 37 1 171810859 171810859 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 171810859 171810859 G A SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known silent c.63 p.S21 0.988 superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 25 0 0 11 4 26.6667 CFH 0 genome.wustl.edu 37 1 196716354 196716354 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 196716354 196716354 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.3607 p.R1203W 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 142 0 0 82 10 10.8696 HSPG2 0 genome.wustl.edu 37 1 22165524 22165524 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 22165524 22165524 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.9944 p.T3315M 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 74 0 0 44 4 8.33333 WNT3A 0 genome.wustl.edu 37 1 228246694 228246694 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 228246694 228246694 C T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.587 p.A196V 0.998 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 34 0 0 13 3 18.75 OR2W5 0 genome.wustl.edu 37 1 247654765 247654765 + RNA SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 247654765 247654765 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.938 - - - no_errors OR2W5 HGNC ENSG00000203664 127 0 0 66 10 13.1579 OR2T12 0 genome.wustl.edu 37 1 248458139 248458139 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 248458139 248458139 G T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.742 p.L248I 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 130 0 0 75 14 15.7303 EIF3I 0 genome.wustl.edu 37 1 32689716 32689716 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 32689716 32689716 G A SNP EIF3I ENST00000373586 human ensembl 74_37 +1 known missense c.178 p.A60T 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,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 EIF3I HGNC ENSG00000084623 93 0 0 63 13 17.1053 CSMD2 0 genome.wustl.edu 37 1 34158580 34158580 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 34158580 34158580 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4002 p.H1334Q 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 235 0 0 133 13 8.90411 PDE4B 0 genome.wustl.edu 37 1 66827323 66827323 + Silent SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 66827323 66827323 A C SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known silent c.867 p.P289 0.989 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 98 0 0 58 8 12.1212 LRRC7 0 genome.wustl.edu 37 1 70488966 70488966 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 70488966 70488966 G C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1589 p.C530S 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 141 0 0 85 14 14.1414 IFI44L 0 genome.wustl.edu 37 1 79093853 79093853 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 79093853 79093853 T C SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.253 p.F85L 0.652 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 50 0 0 31 4 11.4286 BARHL2 0 genome.wustl.edu 37 1 91180275 91180275 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 91180275 91180275 G A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.664 p.R222C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 198 0 0 117 15 11.3636 GFI1 0 genome.wustl.edu 37 1 92946367 92946367 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 1 92946367 92946367 C T SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known missense c.577 p.A193T 0.011 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 12 0 0 5 3 37.5 LZTS2 0 genome.wustl.edu 37 10 102763674 102763674 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 102763674 102763674 T C SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known silent c.819 p.S273 0.998 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 97 0 0 46 3 6.12245 NOLC1 0 genome.wustl.edu 37 10 103919306 103919306 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 103919306 103919306 A C SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.870 p.K290N 0.664 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 62 0 0 33 6 15.3846 CCDC172 0 genome.wustl.edu 37 10 118084562 118084562 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 118084562 118084562 C T SNP CCDC172 ENST00000333254 human ensembl 74_37 +1 known silent c.39 p.T13 0.004 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 70 0 0 32 4 11.1111 MTPAP 0 genome.wustl.edu 37 10 30656738 30656738 + RNA SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 30656738 30656738 G A SNP MTPAP ENST00000488290 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors MTPAP HGNC ENSG00000107951 60 0 0 39 8 17.0213 MAP3K8 0 genome.wustl.edu 37 10 30749642 30749642 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 30749642 30749642 G A SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.1281 p.S427 0.056 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 58 0 0 36 4 10 DIP2C 0 genome.wustl.edu 37 10 428632 428632 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 428632 428632 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.1946 p.C649Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 33 0 0 19 5 20.8333 PCDH15 0 genome.wustl.edu 37 10 55955568 55955568 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 55955568 55955568 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1180 p.Y394H 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 94 0 0 45 5 10 TET1 0 genome.wustl.edu 37 10 70450715 70450715 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 70450715 70450715 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5555 p.P1852L 0.002 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 134 0 0 89 11 11 TYSND1 0 genome.wustl.edu 37 10 71899649 71899649 + RNA SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 71899649 71899649 C T SNP TYSND1 ENST00000479086 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TYSND1 HGNC ENSG00000156521 73 0 0 40 4 9.09091 ITIH5 0 genome.wustl.edu 37 10 7679382 7679382 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 7679382 7679382 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.461 p.A154V 0.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 116 0 0 55 10 15.3846 ZDHHC16 0 genome.wustl.edu 37 10 99216685 99216685 + RNA SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 99216685 99216685 T G SNP ZDHHC16 ENST00000466895 human ensembl 74_37 +1 known rna NULL NULL 0.317 - - - no_errors ZDHHC16 HGNC ENSG00000171307 16 0 0 10 4 28.5714 CRTAC1 0 genome.wustl.edu 37 10 99770980 99770980 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 99770980 99770980 A G SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.139 p.Y47H 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 181 0 0 91 13 12.5 PGR 0 genome.wustl.edu 37 11 100933339 100933339 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 100933339 100933339 A T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2051 p.I684N 0.029 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 296 0 0 194 25 11.4155 GUCY1A2 0 genome.wustl.edu 37 11 106810753 106810753 + Silent SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 106810753 106810753 A G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known silent c.639 p.S213 0.998 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 156 0 0 92 14 13.2075 IL10RA 0 genome.wustl.edu 37 11 117866365 117866365 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 117866365 117866365 C T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known silent c.750 p.L250 0.157 NULL superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 92 0 0 52 12 18.75 CXCR5 0 genome.wustl.edu 37 11 118765000 118765000 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 118765000 118765000 G A SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known silent c.747 p.Q249 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 63 0 0 32 5 13.5135 TECTA 0 genome.wustl.edu 37 11 120998532 120998532 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 120998532 120998532 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1846 p.D616N 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 114 0 0 67 17 20.2381 OR8D4 0 genome.wustl.edu 37 11 123778075 123778075 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 123778075 123778075 C T SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.937 p.P313S 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 34 0 0 18 4 18.1818 TH 0 genome.wustl.edu 37 11 2185600 2185600 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 2185600 2185600 G A SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.1450 p.R484C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 65 0 0 38 14 26.9231 ANO3 0 genome.wustl.edu 37 11 26581277 26581277 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 26581277 26581277 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.1398 p.L466 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 189 0 0 132 19 12.5828 ABTB2 0 genome.wustl.edu 37 11 34226232 34226232 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 34226232 34226232 G T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.889 p.L297I 1.000 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 41 0 0 25 5 16.6667 UBQLN3 0 genome.wustl.edu 37 11 5530452 5530452 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 5530452 5530452 T C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.337 p.S113G 0.103 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 69 0 0 36 11 23.4043 OR4C16 0 genome.wustl.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 55340006 55340006 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.403 p.S135R 0.130 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 209 0 0 144 24 14.2857 UBQLNL 0 genome.wustl.edu 37 11 5537480 5537480 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 5537480 5537480 T C SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.192 p.Q64 0.934 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 98 0 0 69 6 8 OR4P4 0 genome.wustl.edu 37 11 55406228 55406228 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 55406228 55406228 T G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.395 p.I132S 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 110 0 0 73 11 13.0952 OR5T2 0 genome.wustl.edu 37 11 55999981 55999981 + Silent SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 55999981 55999981 A C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.681 p.S227 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 201 0 0 110 28 20.2899 MS4A14 0 genome.wustl.edu 37 11 60184378 60184378 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 60184378 60184378 C A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1937 p.S646Y 0.003 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 80 0 0 63 11 14.8649 DDB1 0 genome.wustl.edu 37 11 61079287 61079287 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 61079287 61079287 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.2246 p.T749M 0.997 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 100 0 0 72 20 21.7391 PCNXL3 0 genome.wustl.edu 37 11 65387389 65387389 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 65387389 65387389 T G SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.1994 p.F665C 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 31 0 0 18 5 21.7391 P2RY6 0 genome.wustl.edu 37 11 73008084 73008084 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 73008084 73008084 G A SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.521 p.R174H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 156 0 0 110 11 9.09091 FUT4 0 genome.wustl.edu 37 11 94278700 94278700 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 11 94278700 94278700 C A SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known silent c.1401 p.S467 0.163 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 88 0 0 53 10 15.873 BTBD11 0 genome.wustl.edu 37 12 108013802 108013802 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 108013802 108013802 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2492 p.R831Q 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 35 0 0 17 7 29.1667 TAS2R13 0 genome.wustl.edu 37 12 11061719 11061719 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 11061719 11061719 C A SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known missense c.179 p.W60L 0.036 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 88 0 0 58 10 14.7059 ZCCHC8 0 genome.wustl.edu 37 12 122975087 122975087 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 122975087 122975087 A T SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.345 p.F115L 1.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 17 0 0 12 5 29.4118 TMEM132B 0 genome.wustl.edu 37 12 126139127 126139127 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 126139127 126139127 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.3108 p.D1036 0.971 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 91 0 0 61 13 17.5676 PDE3A 0 genome.wustl.edu 37 12 20766614 20766614 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 20766614 20766614 G C SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.1249 p.D417H 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 85 0 0 67 6 8.21918 SLCO1B3 0 genome.wustl.edu 37 12 21011495 21011495 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 21011495 21011495 T G SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.349 p.F117V 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 107 0 0 83 18 17.8218 PYROXD1 0 genome.wustl.edu 37 12 21602575 21602575 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 21602575 21602575 T C SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known missense c.364 p.C122R 0.991 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 51 0 0 31 7 18.4211 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 44 0 0 26 3 10.3448 CACNA1C 0 genome.wustl.edu 37 12 2622033 2622033 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 2622033 2622033 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1273 p.R425W 0.965 prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 34 0 0 16 5 23.8095 LRRK2 0 genome.wustl.edu 37 12 40714877 40714877 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 40714877 40714877 A T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5057 p.E1686V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 166 0 0 148 11 6.91824 TUBA1A 0 genome.wustl.edu 37 12 49579760 49579760 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 49579760 49579760 G A SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known missense c.389 p.T130M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA1A HGNC ENSG00000167552 63 0 0 38 17 30.9091 NR4A1 0 genome.wustl.edu 37 12 52448549 52448549 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 52448549 52448549 T G SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.599 p.F200C 1.000 prints_Nuc_orph_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 75 0 0 43 10 18.8679 KRT3 0 genome.wustl.edu 37 12 53186067 53186067 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 53186067 53186067 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.1144 p.A382T 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 46 0 0 19 7 26.9231 GTSF1 0 genome.wustl.edu 37 12 54858773 54858773 + RNA SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 54858773 54858773 T C SNP GTSF1 ENST00000548538 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GTSF1 HGNC ENSG00000170627 40 0 0 29 5 14.7059 OR6C6 0 genome.wustl.edu 37 12 55688654 55688654 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 55688654 55688654 G A SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known silent c.363 p.Y121 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 97 0 0 47 12 20.339 KCNC2 0 genome.wustl.edu 37 12 75601257 75601257 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 75601257 75601257 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.507 p.F169 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 45 0 0 26 5 16.129 ACSS3 0 genome.wustl.edu 37 12 81532956 81532956 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 81532956 81532956 G T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.692 p.R231M 0.006 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 85 0 0 45 12 21.0526 CCDC59 0 genome.wustl.edu 37 12 82747029 82747029 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 82747029 82747029 C A SNP CCDC59 ENST00000256151 human ensembl 74_37 -1 known missense c.627 p.M209I 1.000 pfam_rRNA_processing,prints_rRNA_processing pfam_rRNA_processing,prints_rRNA_processing - no_errors CCDC59 HGNC ENSG00000133773 59 0 0 44 4 8.33333 USP44 0 genome.wustl.edu 37 12 95927656 95927656 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 95927656 95927656 C T SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.377 p.G126D 0.066 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 106 0 0 73 9 10.9756 MICU2 0 genome.wustl.edu 37 13 22095431 22095431 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 22095431 22095431 G C SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.550 p.L184V 1.000 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 48 0 0 28 7 20 TNFRSF19 0 genome.wustl.edu 37 13 24190051 24190051 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 24190051 24190051 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.226 p.R76W 0.989 smart_TNFR/NGFR_Cys_rich_reg smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 121 0 0 74 37 33.3333 RXFP2 0 genome.wustl.edu 37 13 32365959 32365959 + Nonsense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 32365959 32365959 C T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known nonsense c.1162 p.R388* 1.000 prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 100 0 0 64 21 24.7059 ZC3H13 0 genome.wustl.edu 37 13 46541793 46541793 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 46541793 46541793 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.4167 p.R1389 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 105 0 0 104 12 10.3448 LRCH1 0 genome.wustl.edu 37 13 47224395 47224395 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 47224395 47224395 G A SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known missense c.367 p.E123K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 35 0 0 25 6 19.3548 PCDH17 0 genome.wustl.edu 37 13 58207414 58207414 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 58207414 58207414 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.734 p.A245V 0.958 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 97 0 0 74 11 12.9412 PCDH17 0 genome.wustl.edu 37 13 58299127 58299127 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 58299127 58299127 A C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3179 p.K1060T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 114 0 0 106 12 10.1695 PCDH20 0 genome.wustl.edu 37 13 61985660 61985660 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 61985660 61985660 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2572 p.R858G 1.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 83 0 0 47 28 37.3333 GPC5 0 genome.wustl.edu 37 13 92408651 92408651 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 92408651 92408651 G T SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1257 p.W419C 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 111 0 0 105 11 9.48276 OR10G2 0 genome.wustl.edu 37 14 22102698 22102698 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 14 22102698 22102698 C T SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known missense c.301 p.G101S 0.653 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 54 0 0 42 4 8.69565 FOXG1 0 genome.wustl.edu 37 14 29237297 29237297 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 14 29237297 29237297 G A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.812 p.G271D 1.000 pfam_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 64 0 0 39 16 29.0909 SYT16 0 genome.wustl.edu 37 14 62463155 62463155 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 14 62463155 62463155 A G SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.418 p.I140V 0.857 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 170 0 0 131 11 7.74648 CERS3 0 genome.wustl.edu 37 15 100942975 100942975 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 100942975 100942975 T C SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known silent c.1095 p.L365 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 50 0 0 28 4 12.5 NIPA2 0 genome.wustl.edu 37 15 23021278 23021278 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 23021278 23021278 G A SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.59 p.S20F 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 114 0 0 73 10 12.0482 SNRPN 0 genome.wustl.edu 37 15 25222082 25222082 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 25222082 25222082 C A SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.338 p.A113E 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 111 0 0 56 15 21.1268 GABRG3 0 genome.wustl.edu 37 15 27271960 27271960 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 27271960 27271960 A G SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.262 p.I88V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 23 0 0 8 8 50 ARHGAP11B 0 genome.wustl.edu 37 15 30926471 30926471 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 30926471 30926471 T C SNP ARHGAP11B ENST00000428041 human ensembl 74_37 +1 known silent c.396 p.I132 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11B HGNC ENSG00000187951 50 0 0 41 8 16.3265 TTBK2 0 genome.wustl.edu 37 15 43067607 43067607 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 43067607 43067607 G C SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.1724 p.T575S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 83 0 0 53 20 27.3973 MFAP1 0 genome.wustl.edu 37 15 44105482 44105482 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 44105482 44105482 G A SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known missense c.691 p.R231C 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 313 0 0 168 27 13.8462 FAM227B 0 genome.wustl.edu 37 15 49620615 49620615 + RNA SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 49620615 49620615 A T SNP FAM227B ENST00000560557 human ensembl 74_37 -1 putative rna NULL NULL 0.860 - - - no_errors FAM227B HGNC ENSG00000166262 12 0 0 2 2 50 ANPEP 0 genome.wustl.edu 37 15 90349397 90349397 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 90349397 90349397 G A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.418 p.R140C 0.245 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 60 0 0 38 25 39.6825 SLCO3A1 0 genome.wustl.edu 37 15 92706046 92706046 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 15 92706046 92706046 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1814 p.S605N 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 104 0 0 57 13 18.5714 SEC14L5 0 genome.wustl.edu 37 16 5064923 5064923 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 5064923 5064923 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.2043 p.S681 0.947 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 82 0 0 50 6 10.7143 TEPP 0 genome.wustl.edu 37 16 58019442 58019442 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 58019442 58019442 C A SNP TEPP ENST00000290871 human ensembl 74_37 +1 known missense c.825 p.F275L 0.090 NULL NULL - no_errors TEPP HGNC ENSG00000159648 80 0 0 40 4 9.09091 RBFOX1 0 genome.wustl.edu 37 16 7568266 7568266 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 7568266 7568266 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.274 p.A92T 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 218 1 0.456621 121 22 15.3846 KLHL36 0 genome.wustl.edu 37 16 84690914 84690914 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 84690914 84690914 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known silent c.501 p.I167 0.998 pfam_BACK,smart_BACK,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 KLHL36 HGNC ENSG00000135686 103 0 0 69 7 9.21053 PMM2 0 genome.wustl.edu 37 16 8941586 8941586 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 8941586 8941586 C T SNP PMM2 ENST00000268261 human ensembl 74_37 +1 known silent c.645 p.G215 1.000 pfam_PMM,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC ENSG00000140650 82 0 0 45 8 15.0943 TUBB3 0 genome.wustl.edu 37 16 90002028 90002028 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 16 90002028 90002028 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.1169 p.R390Q 1.000 superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 262 0 0 170 25 12.8205 TBC1D26 0 genome.wustl.edu 37 17 15640806 15640806 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 15640806 15640806 A C SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.167 p.E56A 0.285 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 10 0 0 3 4 57.1429 SERPINF2 0 genome.wustl.edu 37 17 1657612 1657612 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 1657612 1657612 C T SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known silent c.1260 p.F420 0.030 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 180 0 0 97 42 30.2158 MYO1D 0 genome.wustl.edu 37 17 30986210 30986210 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 30986210 30986210 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.2268 p.Y756 0.536 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 138 0 0 104 10 8.77193 SLC35G3 0 genome.wustl.edu 37 17 33521011 33521011 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 33521011 33521011 A C SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.316 p.F106V 1.000 pfam_DMT pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 247 0 0 167 21 11.1702 KRT39 0 genome.wustl.edu 37 17 39114929 39114929 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 39114929 39114929 T C SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.1400 p.E467G 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 139 0 0 76 25 24.7525 KRTAP9-2 0 genome.wustl.edu 37 17 39383203 39383203 + Silent SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 39383203 39383203 C G SNP KRTAP9-2 ENST00000377721 human ensembl 74_37 +1 known silent c.297 p.T99 0.161 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 110 0 0 68 12 15 KRT35 0 genome.wustl.edu 37 17 39635168 39635168 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 39635168 39635168 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.791 p.R264Q 0.331 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 79 0 0 44 19 30.1587 STAT3 0 genome.wustl.edu 37 17 40476996 40476996 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 40476996 40476996 C T SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known silent c.1449 p.L483 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 STAT3 HGNC ENSG00000168610 128 0 0 74 19 20.4301 SLC35B1 0 genome.wustl.edu 37 17 47782507 47782507 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 47782507 47782507 G A SNP SLC35B1 ENST00000415270 human ensembl 74_37 -1 known silent c.618 p.V206 0.479 pfam_UAA pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom - no_errors SLC35B1 HGNC ENSG00000121073 129 0 0 88 22 20 LUC7L3 0 genome.wustl.edu 37 17 48828097 48828097 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 48828097 48828097 C A SNP LUC7L3 ENST00000544170 human ensembl 74_37 +1 known missense c.1064 p.T355N 1.000 NULL pfam_Luc7-rel - no_errors LUC7L3 HGNC ENSG00000108848 54 0 0 23 5 17.8571 FADS6 0 genome.wustl.edu 37 17 72889611 72889611 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 72889611 72889611 C T SNP FADS6 ENST00000310226 human ensembl 74_37 -1 known missense c.83 p.R28Q 0.619 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC ENSG00000172782 12 0 0 9 4 30.7692 POLR2A 0 genome.wustl.edu 37 17 7416898 7416898 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 7416898 7416898 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.5315 p.T1772I 1.000 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 448 0 0 301 56 15.6863 TNRC6C 0 genome.wustl.edu 37 17 76089149 76089149 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 76089149 76089149 G A SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.4097 p.R1366H 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 49 0 0 39 9 18.75 BAHCC1 0 genome.wustl.edu 37 17 79410252 79410252 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 79410252 79410252 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.1877 p.P626L 0.630 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 53 0 0 34 5 12.8205 GAS7 0 genome.wustl.edu 37 17 9820567 9820567 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 9820567 9820567 C A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.1409 p.R470L 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 79 0 0 45 12 21.0526 CDH2 0 genome.wustl.edu 37 18 25727656 25727656 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 18 25727656 25727656 T G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.153 p.E51D 1.000 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 68 0 0 31 11 26.1905 SMAD2 0 genome.wustl.edu 37 18 45395639 45395639 + Nonsense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 18 45395639 45395639 G C SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known nonsense c.495 p.Y165* 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 47 0 0 14 4 22.2222 LAMA1 0 genome.wustl.edu 37 18 7036008 7036008 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 18 7036008 7036008 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1817 p.S606L 0.989 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 62 0 0 22 10 31.25 ZNF516 0 genome.wustl.edu 37 18 74154275 74154275 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 18 74154275 74154275 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.736 p.G246R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 44 0 0 10 3 23.0769 ZNF236 0 genome.wustl.edu 37 18 74622027 74622027 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 18 74622027 74622027 G T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.2549 p.G850V 0.990 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 107 0 0 50 11 18.0328 MAN2B1 0 genome.wustl.edu 37 19 12760024 12760024 + Missense_Mutation SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 12760024 12760024 T A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2362 p.N788Y 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 61 0 0 35 8 18.6047 OR10H2 0 genome.wustl.edu 37 19 15839276 15839276 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 15839276 15839276 C T SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known silent c.423 p.C141 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 77 0 0 39 21 35 ZNF253 0 genome.wustl.edu 37 19 20003046 20003046 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 20003046 20003046 T C SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known silent c.990 p.H330 1.000 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 ZNF253 HGNC ENSG00000256771 36 0 0 35 8 18.6047 ZNF737 0 genome.wustl.edu 37 19 20728762 20728762 + Nonsense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 20728762 20728762 G A SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known nonsense c.247 p.R83* 0.137 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 ZNF737 HGNC ENSG00000237440 49 0 0 42 7 14.2857 ZNF431 0 genome.wustl.edu 37 19 21365865 21365865 + Silent SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 21365865 21365865 T A SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known silent c.759 p.I253 0.984 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 ZNF431 HGNC ENSG00000196705 67 0 0 59 6 9.23077 ZNF99 0 genome.wustl.edu 37 19 22940707 22940707 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 22940707 22940707 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1731 p.K577N 0.068 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 ZNF99 HGNC ENSG00000213973 49 0 0 37 12 24.4898 TSHZ3 0 genome.wustl.edu 37 19 31768677 31768677 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 31768677 31768677 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2022 p.P674 0.008 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 69 0 0 47 10 17.5439 ACTN4 0 genome.wustl.edu 37 19 39215080 39215080 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 39215080 39215080 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1885 p.L629 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 46 0 0 37 6 13.9535 RTN2 0 genome.wustl.edu 37 19 45998025 45998025 + Silent SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 45998025 45998025 G T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known silent c.318 p.G106 0.455 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 89 0 0 68 10 12.8205 ZC3H4 0 genome.wustl.edu 37 19 47588354 47588354 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 47588354 47588354 C T SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.1066 p.G356R 0.980 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 256 0 0 169 47 21.7593 KLK13 0 genome.wustl.edu 37 19 51559890 51559890 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 51559890 51559890 C T SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.788 p.R263Q 0.000 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 284 0 0 184 56 23.3333 ZNF347 0 genome.wustl.edu 37 19 53645344 53645344 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 53645344 53645344 A G SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.740 p.L247S 0.000 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 ZNF347 HGNC ENSG00000197937 157 0 0 103 24 18.8976 LENG9 0 genome.wustl.edu 37 19 54974143 54974143 + Missense_Mutation SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 54974143 54974143 C G SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known missense c.633 p.K211N 0.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 34 0 0 32 4 11.1111 NLRP11 0 genome.wustl.edu 37 19 56307512 56307512 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 56307512 56307512 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.2276 p.R759K 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 225 0 0 164 52 24.0741 ZNF583 0 genome.wustl.edu 37 19 56935080 56935080 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 56935080 56935080 T C SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known silent c.1053 p.P351 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 116 0 0 71 26 26.8041 PEG3 0 genome.wustl.edu 37 19 57335747 57335747 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 57335747 57335747 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.277 p.Q93K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 161 0 0 86 33 27.7311 ZNF134 0 genome.wustl.edu 37 19 58132192 58132192 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 58132192 58132192 C T SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known silent c.705 p.S235 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 73 0 0 40 13 24.5283 EMR1 0 genome.wustl.edu 37 19 6897451 6897451 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 19 6897451 6897451 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.407 p.C136Y 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 77 0 0 54 8 12.9032 LRP1B 0 genome.wustl.edu 37 2 140990805 140990805 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 140990805 140990805 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.13750 p.E4584* 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 75 0 0 38 13 25.4902 LRP1B 0 genome.wustl.edu 37 2 141215210 141215210 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 141215210 141215210 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9636 p.Q3212H 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 125 0 0 82 27 24.7706 LRP1B 0 genome.wustl.edu 37 2 141751631 141751631 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 141751631 141751631 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2577 p.Q859H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 114 0 0 78 19 19.5876 PXDN 0 genome.wustl.edu 37 2 1643130 1643130 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 1643130 1643130 C A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.4017 p.E1339D 0.001 NULL 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 57 0 0 27 8 22.8571 LRP2 0 genome.wustl.edu 37 2 170063434 170063434 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 170063434 170063434 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known nonsense c.6796 p.E2266* 0.349 smart_LDLR_classB_rpt,pfscan_LDLR_classB_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 161 0 0 118 16 11.9403 TTN 0 genome.wustl.edu 37 2 179439346 179439346 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 179439346 179439346 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63809 p.V21270G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 98 0 0 59 7 10.6061 TTN 0 genome.wustl.edu 37 2 179669304 179669304 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 179669304 179669304 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.66 p.T22 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 63 0 0 41 6 12.766 MSGN1 0 genome.wustl.edu 37 2 17998037 17998037 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 17998037 17998037 C T SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known silent c.252 p.V84 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 94 0 0 63 12 16 ZNF804A 0 genome.wustl.edu 37 2 185802547 185802547 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 185802547 185802547 T G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.2424 p.P808 0.990 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 65 0 0 50 6 10.7143 TNS1 0 genome.wustl.edu 37 2 218683203 218683203 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 218683203 218683203 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.3540 p.A1180 0.952 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 85 0 0 55 18 24.6575 SLC11A1 0 genome.wustl.edu 37 2 219258851 219258851 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 219258851 219258851 C T SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known silent c.1323 p.F441 0.959 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 90 0 0 56 6 9.67742 CHPF 0 genome.wustl.edu 37 2 220404726 220404726 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 220404726 220404726 G A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.1707 p.H569 0.967 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 69 0 0 37 4 9.7561 DGKD 0 genome.wustl.edu 37 2 234299087 234299087 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 234299087 234299087 C T SNP DGKD ENST00000264057 human ensembl 74_37 +1 known silent c.306 p.S102 0.894 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 73 0 0 52 7 11.8644 HDLBP 0 genome.wustl.edu 37 2 242181952 242181952 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 242181952 242181952 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2092 p.D698N 0.640 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 71 0 0 43 4 8.51064 D2HGDH 0 genome.wustl.edu 37 2 242695360 242695360 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 242695360 242695360 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.1237 p.D413N 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 140 0 0 82 9 9.89011 BIRC6 0 genome.wustl.edu 37 2 32707635 32707635 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 32707635 32707635 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.7681 p.V2561I 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 87 0 0 61 8 11.5942 RASGRP3 0 genome.wustl.edu 37 2 33752219 33752219 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 33752219 33752219 A C SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.823 p.T275P 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 42 0 0 28 10 26.3158 RASGRP3 0 genome.wustl.edu 37 2 33752220 33752220 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 33752220 33752220 C A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.824 p.T275K 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 43 0 0 28 10 26.3158 NRXN1 0 genome.wustl.edu 37 2 50780014 50780014 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 50780014 50780014 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1446 p.F482L 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 138 0 0 67 15 18.2927 CCDC85A 0 genome.wustl.edu 37 2 56570051 56570051 + Silent SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 56570051 56570051 A G SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known silent c.1278 p.R426 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 15 0 0 8 3 27.2727 EIF2AK3 0 genome.wustl.edu 37 2 88890523 88890523 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 88890523 88890523 A G SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.815 p.M272T 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 108 0 0 57 15 20.8333 MGAT4A 0 genome.wustl.edu 37 2 99260500 99260500 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 99260500 99260500 C T SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known silent c.906 p.A302 0.203 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 90 0 0 64 6 8.57143 VPS16 0 genome.wustl.edu 37 20 2847197 2847197 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 20 2847197 2847197 A G SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.2497 p.R833G 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 151 0 0 92 28 23.3333 SEMG1 0 genome.wustl.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 20 43837052 43837052 C T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.1114 p.R372C 0.001 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 66 0 0 53 19 26.3889 ENSG00000242553 0 genome.wustl.edu 37 21 38593774 38593774 + RNA SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 21 38593774 38593774 A C SNP ENSG00000242553 ENST00000440629 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AP001432.14 Clone_based_vega_gene ENSG00000242553 198 0 0 80 30 27.2727 RIPK4 0 genome.wustl.edu 37 21 43161417 43161417 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 21 43161417 43161417 C T SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.2080 p.E694K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 113 1 0.877193 51 18 26.087 SEZ6L 0 genome.wustl.edu 37 22 26707735 26707735 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 26707735 26707735 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.1683 p.A561 0.682 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 SEZ6L HGNC ENSG00000100095 301 0 0 189 71 27.3077 CHEK2 0 genome.wustl.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 29091840 29091840 T C SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1246 p.K416E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 74 0 0 70 4 5.40541 LARGE 0 genome.wustl.edu 37 22 34046630 34046630 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 34046630 34046630 G A SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.131 p.P44L 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 73 0 0 46 4 8 TEF 0 genome.wustl.edu 37 22 41791804 41791804 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 41791804 41791804 G A SNP TEF ENST00000266304 human ensembl 74_37 +1 known missense c.752 p.R251Q 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors TEF HGNC ENSG00000167074 86 0 0 52 24 31.5789 PKDREJ 0 genome.wustl.edu 37 22 46653338 46653338 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 46653338 46653338 G C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.5882 p.A1961G 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 84 0 0 41 7 14.5833 CELSR1 0 genome.wustl.edu 37 22 46929691 46929691 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 22 46929691 46929691 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3377 p.C1126Y 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 143 0 0 80 13 13.9785 HDAC11 0 genome.wustl.edu 37 3 13538326 13538326 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 13538326 13538326 C T SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.343 p.R115W 0.826 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 53 0 0 32 10 23.8095 COPB2 0 genome.wustl.edu 37 3 139078162 139078162 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 139078162 139078162 C A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known silent c.2253 p.L751 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 114 0 0 86 10 10.4167 CLSTN2 0 genome.wustl.edu 37 3 140282887 140282887 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 140282887 140282887 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2567 p.R856Q 0.964 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 171 0 0 95 24 20.1681 CCNL1 0 genome.wustl.edu 37 3 156866355 156866355 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 156866355 156866355 G T SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1256 p.S419Y 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 117 0 0 60 10 14.2857 IQCJ 0 genome.wustl.edu 37 3 158980488 158980488 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 158980488 158980488 C A SNP IQCJ ENST00000397832 human ensembl 74_37 +1 known missense c.307 p.L103I 0.002 NULL NULL - no_errors IQCJ HGNC ENSG00000214216 90 0 0 54 11 16.9231 SI 0 genome.wustl.edu 37 3 164785157 164785157 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 164785157 164785157 T G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.606 p.Q202H 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 93 0 0 73 9 10.9756 SDHAP1 0 genome.wustl.edu 37 3 195702621 195702621 + RNA SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 195702621 195702621 G A SNP SDHAP1 ENST00000427841 human ensembl 74_37 -1 known rna NULL NULL 0.612 - - - no_errors SDHAP1 HGNC ENSG00000185485 15 0 0 9 6 40 SETD2 0 genome.wustl.edu 37 3 47098880 47098880 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 47098880 47098880 G A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.6394 p.R2132W 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 138 0 0 116 16 12.1212 STAB1 0 genome.wustl.edu 37 3 52556844 52556844 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 52556844 52556844 C A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6798 p.H2266Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 182 0 0 125 21 14.3836 GRM7 0 genome.wustl.edu 37 3 6903385 6903385 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 6903385 6903385 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.310 p.R104W 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 52 0 0 43 8 15.6863 ROBO2 0 genome.wustl.edu 37 3 77684060 77684060 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 77684060 77684060 G T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3800 p.S1267I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 165 0 0 121 11 8.33333 ROBO2 0 genome.wustl.edu 37 3 77693963 77693963 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 77693963 77693963 T C SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.4043 p.V1348A 0.259 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 89 0 0 54 11 16.9231 ARL13B 0 genome.wustl.edu 37 3 93758768 93758768 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 93758768 93758768 G A SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.734 p.G245D 0.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 47 0 0 27 4 12.9032 CRYBG3 0 genome.wustl.edu 37 3 97631079 97631079 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 3 97631079 97631079 G C SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.2229 p.L743F 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 69 0 0 30 3 9.09091 TACR3 0 genome.wustl.edu 37 4 104511023 104511023 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 104511023 104511023 C A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.1214 p.R405I 1.000 prints_NK1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 230 0 0 110 41 27.1523 GYPB 0 genome.wustl.edu 37 4 144918764 144918764 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 144918764 144918764 T G SNP GYPB ENST00000283126 human ensembl 74_37 -1 known missense c.199 p.I67L 0.001 pfam_Glycophorin pfam_Glycophorin - no_errors GYPB HGNC ENSG00000250361 59 0 0 28 7 20 KLKB1 0 genome.wustl.edu 37 4 187158094 187158094 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 187158094 187158094 G A SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.488 p.R163Q 0.997 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 59 0 0 34 7 17.0732 DCAF4L1 0 genome.wustl.edu 37 4 41984183 41984183 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 41984183 41984183 G A SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.374 p.R125Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 141 0 0 84 16 16 PIGG 0 genome.wustl.edu 37 4 515701 515701 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 515701 515701 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1585 p.V529M 0.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 71 0 0 30 11 26.8293 UNC5C 0 genome.wustl.edu 37 4 96256683 96256683 + Missense_Mutation SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 4 96256683 96256683 T A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.224 p.K75M 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 84 0 0 38 16 29.6296 ADAMTS19 0 genome.wustl.edu 37 5 128984623 128984623 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 128984623 128984623 C A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.2118 p.S706 0.885 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 225 0 0 109 24 18.0451 PCDHA9 0 genome.wustl.edu 37 5 140229433 140229433 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140229433 140229433 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1353 p.N451 0.993 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 167 0 0 132 20 13.1579 PCDHA13 0 genome.wustl.edu 37 5 140261977 140261977 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140261977 140261977 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.124 p.G42S 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 216 0 0 120 40 25 PCDHB4 0 genome.wustl.edu 37 5 140503532 140503532 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140503532 140503532 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1952 p.R651H 0.248 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 105 0 0 87 8 8.42105 PCDHGB2 0 genome.wustl.edu 37 5 140741307 140741307 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140741307 140741307 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1605 p.R535 0.079 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 70 0 0 49 7 12.5 PCDHGB3 0 genome.wustl.edu 37 5 140752045 140752045 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140752045 140752045 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.2084 p.A695V 0.995 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 138 0 0 90 11 10.8911 PCDHGB4 0 genome.wustl.edu 37 5 140768837 140768837 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 140768837 140768837 C A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1386 p.N462K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 161 0 0 105 21 16.6667 ARAP3 0 genome.wustl.edu 37 5 141052170 141052170 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 141052170 141052170 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.1334 p.R445Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 51 0 0 38 5 11.6279 NSD1 0 genome.wustl.edu 37 5 176636752 176636752 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 176636752 176636752 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.1352 p.S451I 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 118 0 0 83 5 5.68182 ZNF454 0 genome.wustl.edu 37 5 178391973 178391973 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 178391973 178391973 A G SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.568 p.S190G 0.676 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 ZNF454 HGNC ENSG00000178187 66 0 0 35 8 18.6047 TTC23L 0 genome.wustl.edu 37 5 34850318 34850318 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 34850318 34850318 G T SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.284 p.R95L 1.000 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 231 0 0 174 15 7.93651 MRPS30 0 genome.wustl.edu 37 5 44809103 44809103 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 44809103 44809103 T G SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known silent c.39 p.G13 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 28 0 0 13 3 18.75 HCN1 0 genome.wustl.edu 37 5 45262804 45262804 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 45262804 45262804 T G SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1892 p.E631A 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 102 0 0 59 31 34.4444 HCN1 0 genome.wustl.edu 37 5 45645310 45645310 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 45645310 45645310 T C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.826 p.R276G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 49 0 0 32 4 11.1111 PPAP2A 0 genome.wustl.edu 37 5 54763900 54763900 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 54763900 54763900 G A SNP PPAP2A ENST00000264775 human ensembl 74_37 -1 known silent c.291 p.A97 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2A HGNC ENSG00000067113 102 0 0 66 8 10.8108 PRDM13 0 genome.wustl.edu 37 6 100060991 100060991 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 100060991 100060991 C T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known silent c.480 p.C160 1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 55 0 0 39 6 13.3333 FOXO3 0 genome.wustl.edu 37 6 108985242 108985242 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 108985242 108985242 G A SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known silent c.1206 p.S402 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 116 0 0 51 17 25 TRDN 0 genome.wustl.edu 37 6 123892170 123892170 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 123892170 123892170 A C SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.130 p.F44V 0.999 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 104 0 0 65 35 35 SOGA3 0 genome.wustl.edu 37 6 127837188 127837188 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 127837188 127837188 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.572 p.P191L 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 16 0 0 13 3 18.75 BCLAF1 0 genome.wustl.edu 37 6 136599126 136599126 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 136599126 136599126 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.893 p.R298Q 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 110 0 0 55 15 21.4286 SHPRH 0 genome.wustl.edu 37 6 146244889 146244889 + Silent SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 146244889 146244889 C G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known silent c.3462 p.V1154 0.973 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 55 0 0 38 4 9.52381 GRM1 0 genome.wustl.edu 37 6 146720447 146720447 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 146720447 146720447 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2272 p.G758S 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 144 0 0 110 11 9.09091 PARK2 0 genome.wustl.edu 37 6 162206908 162206908 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 162206908 162206908 C A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.767 p.R256L 0.999 pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 46 0 0 20 3 13.0435 ATXN1 0 genome.wustl.edu 37 6 16326864 16326864 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 16326864 16326864 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.1678 p.V560M 0.034 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 102 0 0 56 9 13.8462 NUP153 0 genome.wustl.edu 37 6 17629497 17629497 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 17629497 17629497 T C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3026 p.N1009S 0.994 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 78 0 0 52 8 13.3333 SLC44A4 0 genome.wustl.edu 37 6 31833651 31833651 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 31833651 31833651 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1486 p.R496C 0.997 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 131 0 0 85 9 9.57447 SCUBE3 0 genome.wustl.edu 37 6 35210049 35210049 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 35210049 35210049 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known silent c.1534 p.L512 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 148 0 0 88 12 12 ABCC10 0 genome.wustl.edu 37 6 43415571 43415571 + Silent SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 43415571 43415571 C G SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.3855 p.G1285 0.984 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC10 HGNC ENSG00000124574 193 0 0 111 22 16.5414 TDRD6 0 genome.wustl.edu 37 6 46660186 46660186 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 46660186 46660186 C A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.4321 p.R1441 0.663 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 229 0 0 110 33 23.0769 IMPG1 0 genome.wustl.edu 37 6 76751766 76751766 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 76751766 76751766 C A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known nonsense c.145 p.E49* 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 111 0 0 79 8 9.1954 UBE3D 0 genome.wustl.edu 37 6 83748171 83748171 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 83748171 83748171 G A SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.631 p.R211C 1.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 100 0 0 73 7 8.75 CAV1 0 genome.wustl.edu 37 7 116165168 116165168 + Missense_Mutation SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 116165168 116165168 C G SNP CAV1 ENST00000451122 human ensembl 74_37 +1 known missense c.52 p.P18A 0.814 NULL NULL - no_errors CAV1 HGNC ENSG00000105974 149 0 0 103 19 15.5738 DENND2A 0 genome.wustl.edu 37 7 140285420 140285420 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 140285420 140285420 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1214 p.P405L 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 141 0 0 95 14 12.844 OR9A2 0 genome.wustl.edu 37 7 142723354 142723354 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 142723354 142723354 C T SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known missense c.866 p.R289Q 0.974 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 128 0 0 73 9 10.9756 CASP2 0 genome.wustl.edu 37 7 143001810 143001810 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 143001810 143001810 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.1161 p.I387 0.725 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 156 0 0 94 15 13.7615 ZNF746 0 genome.wustl.edu 37 7 149174758 149174758 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 149174758 149174758 G A SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known silent c.609 p.G203 0.021 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 47 0 0 43 10 18.8679 OSBPL3 0 genome.wustl.edu 37 7 24892212 24892212 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 24892212 24892212 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.1069 p.E357K 0.995 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 50 0 0 30 13 30.2326 MMD2 0 genome.wustl.edu 37 7 4949553 4949553 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 4949553 4949553 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.568 p.V190I 0.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 65 0 0 41 6 12.766 KDELR2 0 genome.wustl.edu 37 7 6509271 6509271 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 6509271 6509271 C T SNP KDELR2 ENST00000258739 human ensembl 74_37 -1 known missense c.307 p.G103R 1.000 pfam_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR2 HGNC ENSG00000136240 90 0 0 84 6 6.66667 CACNA2D1 0 genome.wustl.edu 37 7 81695790 81695790 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 81695790 81695790 C A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.709 p.D237Y 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 52 0 0 27 3 10 PCLO 0 genome.wustl.edu 37 7 82544081 82544081 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 82544081 82544081 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13221 p.E4407D 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 45 0 0 19 11 36.6667 SAMD9L 0 genome.wustl.edu 37 7 92763852 92763852 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 92763852 92763852 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1433 p.T478N 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 138 0 0 80 9 10.1124 TRRAP 0 genome.wustl.edu 37 7 98533290 98533290 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 7 98533290 98533290 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4103 p.A1368V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 48 0 0 26 2 7.14286 RIMS2 0 genome.wustl.edu 37 8 104922740 104922740 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 104922740 104922740 C A SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known missense c.1240 p.H414N 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 51 0 0 25 5 16.6667 RIMS2 0 genome.wustl.edu 37 8 104987701 104987701 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 104987701 104987701 G T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2894 p.R965I 1.000 NULL 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 RIMS2 HGNC ENSG00000176406 56 0 0 38 13 25.4902 DPYS 0 genome.wustl.edu 37 8 105436539 105436539 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 105436539 105436539 T G SNP DPYS ENST00000351513 human ensembl 74_37 -1 known silent c.1171 p.R391 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 122 0 0 77 10 11.4943 LRP12 0 genome.wustl.edu 37 8 105509626 105509626 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 105509626 105509626 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1097 p.N366T 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 111 0 0 64 13 16.8831 GATA4 0 genome.wustl.edu 37 8 11614478 11614478 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 11614478 11614478 C T SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known silent c.1032 p.S344 0.303 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 167 0 0 96 18 15.7895 EXT1 0 genome.wustl.edu 37 8 118819534 118819534 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 118819534 118819534 G A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1805 p.S602F 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 109 0 0 69 16 18.8235 COL14A1 0 genome.wustl.edu 37 8 121259879 121259879 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 121259879 121259879 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2507 p.R836Q 0.071 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 85 0 0 60 4 6.25 KCNU1 0 genome.wustl.edu 37 8 36763262 36763262 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 36763262 36763262 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2046 p.Q682H 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 109 0 0 82 18 18 PLAT 0 genome.wustl.edu 37 8 42036423 42036423 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 42036423 42036423 C T SNP PLAT ENST00000220809 human ensembl 74_37 -1 known missense c.1522 p.A508T 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 105 0 0 73 10 12.0482 ZFHX4 0 genome.wustl.edu 37 8 77767332 77767332 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 77767332 77767332 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8175 p.Q2725H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 48 0 0 28 7 20 INTS8 0 genome.wustl.edu 37 8 95839622 95839622 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 95839622 95839622 A G SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.437 p.Y146C 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 177 0 0 116 37 24.183 C9orf91 0 genome.wustl.edu 37 9 117379543 117379543 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 117379543 117379543 G A SNP C9orf91 ENST00000374049 human ensembl 74_37 +1 known missense c.68 p.S23N 0.005 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 53 0 0 32 2 5.88235 TYRP1 0 genome.wustl.edu 37 9 12695603 12695603 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 12695603 12695603 A C SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.474 p.L158F 0.988 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 109 0 0 93 24 20.5128 DNM1 0 genome.wustl.edu 37 9 131010944 131010944 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 131010944 131010944 G A SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.1988 p.R663Q 1.000 pfam_GED,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 161 0 0 110 41 27.1523 CCBL1 0 genome.wustl.edu 37 9 131595805 131595805 + RNA SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 131595805 131595805 C T SNP CCBL1 ENST00000462722 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCBL1 HGNC ENSG00000171097 39 0 0 20 6 23.0769 GLIS3 0 genome.wustl.edu 37 9 4286252 4286252 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 4286252 4286252 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.174 p.L58 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 74 0 0 60 6 9.09091 RANBP6 0 genome.wustl.edu 37 9 6014769 6014769 + Missense_Mutation SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 6014769 6014769 C G SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.839 p.S280T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 93 0 0 56 623 91.7526 PTCH1 0 genome.wustl.edu 37 9 98242706 98242706 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 9 98242706 98242706 C A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.911 p.C304F 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 132 0 0 106 11 9.40171 IL1RAPL2 0 genome.wustl.edu 37 X 104478507 104478507 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 104478507 104478507 C A SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known nonsense c.362 p.S121* 0.999 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 157 0 0 162 11 6.35838 MAP3K15 0 genome.wustl.edu 37 X 19431478 19431478 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 19431478 19431478 T C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.1695 p.E565 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 235 0 0 197 56 22.1344 MAGEB18 0 genome.wustl.edu 37 X 26157428 26157428 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 26157428 26157428 A G SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.326 p.K109R 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 35 0 0 20 12 37.5 MAGEB6 0 genome.wustl.edu 37 X 26212528 26212528 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 26212528 26212528 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.565 p.R189C 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 121 0 0 79 19 19.3878 DCAF8L1 0 genome.wustl.edu 37 X 27998645 27998645 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 27998645 27998645 T C SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.807 p.E269 1.000 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 DCAF8L1 HGNC ENSG00000226372 85 0 0 78 18 18.75 MAGEB2 0 genome.wustl.edu 37 X 30237209 30237209 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 30237209 30237209 T G SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.512 p.V171G 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 38 0 0 23 8 25.8065 DMD 0 genome.wustl.edu 37 X 31893328 31893328 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 31893328 31893328 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.7075 p.Q2359K 1.000 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,pfam_CAMSAP_CH,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 DMD HGNC ENSG00000198947 36 0 0 22 3 12 MAGEB16 0 genome.wustl.edu 37 X 35820607 35820607 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 35820607 35820607 C T SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known silent c.390 p.S130 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 43 0 0 28 11 28.2051 BCOR 0 genome.wustl.edu 37 X 39933151 39933151 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 39933151 39933151 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.1448 p.P483L 0.907 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 82 0 0 47 15 24.1935 CHST7 0 genome.wustl.edu 37 X 46433819 46433819 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 46433819 46433819 C T SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known silent c.453 p.G151 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 97 0 0 70 18 20.4545 EBP 0 genome.wustl.edu 37 X 48386665 48386665 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 48386665 48386665 C T SNP EBP ENST00000495186 human ensembl 74_37 +1 known silent c.513 p.R171 0.000 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 45 0 0 31 6 16.2162 ITIH6 0 genome.wustl.edu 37 X 54785377 54785377 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 54785377 54785377 T G SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.1130 p.N377T 0.660 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 25 0 0 13 3 18.75 NLGN4X 0 genome.wustl.edu 37 X 5811502 5811502 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 X 5811502 5811502 T C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1867 p.I623V 0.994 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 185 0 0 150 20 11.7647 C10orf76 0 genome.wustl.edu 37 10 103793182 103793182 + RNA DEL T T - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 10 103793182 103793182 T - DEL C10orf76 ENST00000470043 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C10orf76 HGNC ENSG00000120029 22 0 0 13 4 23.5294 HSP90B1 0 genome.wustl.edu 37 12 104341188 104341190 + In_Frame_Del DEL GAA GAA - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 104341188 104341190 GAA - DEL HSP90B1 ENST00000299767 human ensembl 74_37 +1 known in_frame_del c.2362_2364 p.E791in_frame_del 0.829:0.823:0.697 NULL pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 107 0 0 85 19 18.2692 RAB5B 0 genome.wustl.edu 37 12 56384549 56384549 + Frame_Shift_Del DEL C C - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 12 56384549 56384549 C - DEL RAB5B ENST00000360299 human ensembl 74_37 +1 known frame_shift_del c.399 p.N133fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5B HGNC ENSG00000111540 172 0 0 103 25 19.5312 IFT88 0 genome.wustl.edu 37 13 21217687 21217689 + In_Frame_Del DEL AGG AGG - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 13 21217687 21217689 AGG - DEL IFT88 ENST00000319980 human ensembl 74_37 +1 known in_frame_del c.1803_1805 p.G602in_frame_del 0.660:1.000:1.000 smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 73 0 0 66 21 24.1379 TP53 0 genome.wustl.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G G - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 17 7579585 7579585 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.102 p.L35fs 0.000 NULL 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 234 0 0 137 47 25.5435 NTSR2 0 genome.wustl.edu 37 2 11810004 11810006 + In_Frame_Del DEL CAG CAG - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 2 11810004 11810006 CAG - DEL NTSR2 ENST00000306928 human ensembl 74_37 -1 known in_frame_del c.252_250 p.L84in_frame_del 0.976:0.984:0.971 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 15 0 0 17 2 10.5263 APC 0 genome.wustl.edu 37 5 112175675 112175676 + Frame_Shift_Ins INS - - AG TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 5 112175675 112175676 - AG INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4384_4385 p.S1465fs 0.990:0.999 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 112 0 0 65 9 12.1622 IGF2R 0 genome.wustl.edu 37 6 160464204 160464204 + Frame_Shift_Del DEL T T - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 160464204 160464204 T - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.1505 p.V502fs 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 140 0 0 81 8 8.98876 HIST1H2AD 0 genome.wustl.edu 37 6 26199355 26199356 + Frame_Shift_Ins INS - - T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 6 26199355 26199356 - T INS HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known frame_shift_ins c.117_116 p.N39fs 1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 73 0 0 49 6 10.9091 TCEA1 0 genome.wustl.edu 37 8 54934836 54934837 + RNA INS - - GCG TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 8 54934836 54934837 - GCG INS TCEA1 ENST00000517351 human ensembl 74_37 -1 known rna NULL NULL 0.997:1.000 - - - no_errors TCEA1 HGNC ENSG00000187735 8 0 0 9 4 30.7692