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 ADAMTS6 0 genome.wustl.edu 37 5 64538020 64538020 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 64538020 64538020 C A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.1844 p.G615V 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 59 0 0.00 21 19 47.50 AGPAT4 0 genome.wustl.edu 37 6 161567587 161567587 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 161567587 161567587 G A SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.812 p.S271L 0.794 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 tier1 - - 89 0 0.00 58 18 23.68 AHNAK2 0 genome.wustl.edu 37 14 105419206 105419206 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 14 105419206 105419206 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2582 p.P861L 0.156 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 453 0 0.00 319 112 25.99 ALPPL2 0 genome.wustl.edu 37 2 233274324 233274324 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 233274324 233274324 C T SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known silent c.1341 p.D447 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 tier1 rs141708728 - 52 0 0.00 25 6 19.35 ARHGEF18 0 genome.wustl.edu 37 19 7533816 7533816 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 7533816 7533816 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.3022 p.E1008K 0.994 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 15 0 0.00 7 4 36.36 ARMC4 0 genome.wustl.edu 37 10 28260195 28260195 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 28260195 28260195 G T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.984 p.G328 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 73 0 0.00 42 17 28.81 ASXL3 0 genome.wustl.edu 37 18 31326439 31326439 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 31326439 31326439 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6627 p.L2209 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 110 0 0.00 43 16 27.12 BBS12 0 genome.wustl.edu 37 4 123664305 123664305 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 123664305 123664305 G C SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1258 p.E420Q 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 tier1 - - 116 0 0.00 36 25 40.98 C16orf93 0 genome.wustl.edu 37 16 30768964 30768964 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 30768964 30768964 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known missense c.829 p.V277I 0.000 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 tier1 - - 89 0 0.00 74 30 28.85 CACNA1A 0 genome.wustl.edu 37 19 13335579 13335579 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 13335579 13335579 A C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.5633 p.L1878R 0.964 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 19 0 0.00 8 7 46.67 CAMK4 0 genome.wustl.edu 37 5 110710554 110710554 + Frame_Shift_Del DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 110710554 110710554 A - DEL CAMK4 ENST00000282356 human ensembl 74_37 +1 known frame_shift_del c.247 p.I85fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 tier1 51 0 0.00 33 16 32.65 CASC5 0 genome.wustl.edu 37 15 40898609 40898609 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 40898609 40898609 A T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.94 p.S32C 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 51 0 0.00 36 6 14.29 CBLN1 0 genome.wustl.edu 37 16 49314992 49314992 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 49314992 49314992 C T SNP CBLN1 ENST00000564786 human ensembl 74_37 -1 known missense c.385 p.D129N 0.001 NULL NULL - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 57 0 0.00 10 28 73.68 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 54 0 0.00 45 4 8.16 COL11A1 0 genome.wustl.edu 37 1 103540182 103540182 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 103540182 103540182 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.643 p.V215F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 49 0 0.00 31 4 11.43 COL6A2 0 genome.wustl.edu 37 21 47552453 47552453 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 21 47552453 47552453 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.3047 p.R1016H 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 26 0 0.00 4 13 76.47 CPLX2 0 genome.wustl.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 175306965 175306967 GAG - DEL CPLX2 ENST00000359546 human ensembl 74_37 +1 known in_frame_del c.322_324 p.E111in_frame_del 1.000:1.000:0.972 pfam_Synaphin pfam_Synaphin - no_errors CPLX2 HGNC ENSG00000145920 tier1 44 0 0.00 22 4 15.38 CSMD3 0 genome.wustl.edu 37 8 113649203 113649203 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 113649203 113649203 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.3558 p.G1186 0.923 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 144 0 0.00 116 22 15.94 CTNND1 0 genome.wustl.edu 37 11 57571235 57571235 + Missense_Mutation SNP T T G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 57571235 57571235 T G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.1563 p.I521M 0.987 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 41 0 0.00 28 14 33.33 CYP2A7 0 genome.wustl.edu 37 19 41387596 41387596 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 41387596 41387596 G C SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.241 p.L81V 0.882 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 tier1 - - 52 0 0.00 26 8 23.53 DDX3X 0 genome.wustl.edu 37 X 41205632 41205632 + Nonsense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 41205632 41205632 C A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known nonsense c.1466 p.S489* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 tier1 - - 49 0 0.00 12 37 75.51 DLGAP2 0 genome.wustl.edu 37 8 1624759 1624759 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 1624759 1624759 G T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2023 p.G675W 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 34 0 0.00 13 4 23.53 DMGDH 0 genome.wustl.edu 37 5 78326751 78326751 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 78326751 78326751 C A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1588 p.A530S 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 tier1 - - 57 0 0.00 20 24 54.55 DNAH17 0 genome.wustl.edu 37 17 76502891 76502891 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 76502891 76502891 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4702 p.E1568K 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 147 0 0.00 98 29 22.83 DSEL 0 genome.wustl.edu 37 18 65179408 65179408 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 65179408 65179408 A C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2468 p.F823C 0.998 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 193 0 0.00 97 28 22.40 DSEL 0 genome.wustl.edu 37 18 65179532 65179532 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 65179532 65179532 A T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2344 p.F782I 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 88 0 0.00 51 17 25.00 DZIP1L 0 genome.wustl.edu 37 3 137787139 137787139 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 137787139 137787139 C T SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known silent c.1686 p.L562 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 143 0 0.00 160 19 10.61 EML5 0 genome.wustl.edu 37 14 89212570 89212570 + Missense_Mutation SNP T T A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 14 89212570 89212570 T A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.415 p.R139W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 132 0 0.00 72 5 6.49 F2R 0 genome.wustl.edu 37 5 76028577 76028577 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 76028577 76028577 G C SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.527 p.R176P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 328 0 0.00 184 52 22.03 FAM186B 0 genome.wustl.edu 37 12 49998170 49998171 + Frame_Shift_Ins INS - - T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 12 49998170 49998171 - T INS FAM186B ENST00000257894 human ensembl 74_37 -1 known frame_shift_ins c.248_247 p.I83fs 0.997:0.998 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 107 0 0.00 73 21 22.34 FBN2 0 genome.wustl.edu 37 5 127681048 127681048 + Splice_Site SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 127681048 127681048 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known splice_site c.3217+1 e24+1 1.000 - - - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 168 0 0.00 75 23 23.47 FLG 0 genome.wustl.edu 37 1 152286006 152286006 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 152286006 152286006 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1356 p.E452D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 401 0 0.00 357 72 16.78 GALP 0 genome.wustl.edu 37 19 56688494 56688494 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 56688494 56688494 T C SNP GALP ENST00000357330 human ensembl 74_37 +1 known missense c.17 p.V6A 0.000 NULL pfam_Galanin - no_errors GALP HGNC ENSG00000197487 tier1 - - 47 0 0.00 26 4 13.33 GDF9 0 genome.wustl.edu 37 5 132198130 132198130 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 132198130 132198130 G A SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known silent c.516 p.V172 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 tier1 - - 178 0 0.00 110 12 9.84 GOLGA4 0 genome.wustl.edu 37 3 37284969 37284969 + RNA SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 37284969 37284969 G C SNP GOLGA4 ENST00000419177 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 33 0 0.00 7 9 56.25 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 10 0 0.00 11 2 15.38 GRID2 0 genome.wustl.edu 37 4 94436522 94436522 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 94436522 94436522 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2153 p.S718L 0.804 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 109 0 0.00 49 19 27.94 GUCY1A2 0 genome.wustl.edu 37 11 106579307 106579307 + Missense_Mutation SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 106579307 106579307 A G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.2015 p.V672A 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase 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 tier1 - - 67 0 0.00 35 4 10.26 HIST1H4J 0 genome.wustl.edu 37 6 27791982 27791983 + Frame_Shift_Ins INS - - C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 27791982 27791983 0 C INS HIST1H4J ENST00000355057 human ensembl 74_37 +1 known frame_shift_ins c.80_81 p.Q28fs 1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4J HGNC ENSG00000197238 55 0 0.00 43 4 8.51 HTR2A 0 genome.wustl.edu 37 13 47409144 47409144 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 47409144 47409144 G C SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1244 p.P415R 1.000 prints_5HT2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 tier1 - - 170 0 0.00 123 25 16.89 IFT80 0 genome.wustl.edu 37 3 160000343 160000343 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 160000343 160000343 G C SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known missense c.1952 p.A651G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 32 0 0.00 37 3 7.50 ITGA8 0 genome.wustl.edu 37 10 15600155 15600155 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 15600155 15600155 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.2684 p.R895Q 0.009 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 125 0 0.00 60 13 17.81 KCNJ2 0 genome.wustl.edu 37 17 68171316 68171316 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 68171316 68171316 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.136 p.R46C 1.000 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 101 0 0.00 64 27 29.67 KCNK1 0 genome.wustl.edu 37 1 233749934 233749934 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 233749934 233749934 C T SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.17 p.A6V 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 tier1 - - 21 0 0.00 17 6 26.09 KLK13 0 genome.wustl.edu 37 19 51561828 51561828 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 51561828 51561828 G A SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known silent c.612 p.A204 0.630 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,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 tier1 - - 318 0 0.00 110 103 48.36 LAD1 0 genome.wustl.edu 37 1 201356225 201356225 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 201356225 201356225 G C SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.306 p.I102M 0.976 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 tier1 - - 56 0 0.00 15 17 53.12 LPHN3 0 genome.wustl.edu 37 4 62813854 62813854 + Missense_Mutation SNP T T G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 62813854 62813854 T G SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2665 p.W889G 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 43 0 0.00 16 5 23.81 LRRC15 0 genome.wustl.edu 37 3 194080743 194080743 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 194080743 194080743 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1048 p.R350W 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 tier1 - - 66 0 0.00 66 19 22.35 LRRC18 0 genome.wustl.edu 37 10 50122144 50122144 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 50122144 50122144 C A SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.57 p.R19S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 61 0 0.00 41 9 18.00 LRRC37A3 0 genome.wustl.edu 37 17 62893202 62893202 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 62893202 62893202 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.174 p.E58 0.048 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 93 0 0.00 69 16 18.82 MACF1 0 genome.wustl.edu 37 1 39797927 39797927 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 39797927 39797927 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.5778 p.L1926 0.342 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 136 0 0.00 97 28 22.40 MAML2 0 genome.wustl.edu 37 11 95825184 95825184 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 95825184 95825184 C A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.2011 p.A671S 0.002 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 10 0 0.00 17 2 10.53 MB21D1 0 genome.wustl.edu 37 6 74135216 74135216 + Missense_Mutation SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 74135216 74135216 A G SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1303 p.S435P 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 tier1 - - 29 0 0.00 24 11 31.43 MCF2 0 genome.wustl.edu 37 X 138698452 138698452 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 138698452 138698452 G T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1615 p.P539T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 18 0 0.00 31 8 20.51 ME3 0 genome.wustl.edu 37 11 86158141 86158141 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 86158141 86158141 T C SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1346 p.E449G 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 tier1 - - 81 0 0.00 51 5 8.93 MIR302B 0 genome.wustl.edu 37 4 113569662 113569662 + RNA SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 113569662 113569662 C A SNP MIR302B ENST00000362188 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR302B HGNC ENSG00000249532 tier1 - - 29 0 0.00 10 12 54.55 MMP2 0 genome.wustl.edu 37 16 55532322 55532322 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 55532322 55532322 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.1731 p.N577 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 128 0 0.00 42 49 53.85 MORC3 0 genome.wustl.edu 37 21 37736421 37736421 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 21 37736421 37736421 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 89 0 0.00 37 47 55.95 MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 tier1 28 0 0.00 19 3 13.64 NOTCH3 0 genome.wustl.edu 37 19 15308382 15308383 + Frame_Shift_Ins INS - - G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 15308382 15308383 - G INS NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_ins c.126_125 p.C43fs 0.965:0.960 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 44 0 0.00 23 2 8.00 NPAP1 0 genome.wustl.edu 37 15 24921998 24921998 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 24921998 24921998 G C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.984 p.R328S 0.008 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 96 0 0.00 93 12 11.43 OLFML2A 0 genome.wustl.edu 37 9 127566440 127566440 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 9 127566440 127566440 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.987 p.S329 0.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 91 0 0.00 69 7 9.21 OR10G8 0 genome.wustl.edu 37 11 123900399 123900399 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 123900399 123900399 C G SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.70 p.P24A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 254 0 0.00 165 15 8.33 OR12D2 0 genome.wustl.edu 37 6 29365079 29365079 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 29365079 29365079 G A SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known silent c.603 p.T201 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 184 0 0.00 152 8 5.00 OR1L4 0 genome.wustl.edu 37 9 125486292 125486292 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 9 125486292 125486292 C A SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.24 p.S8R 0.024 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 tier1 - - 191 0 0.00 209 33 13.64 OR2T8 0 genome.wustl.edu 37 1 248084435 248084435 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 248084435 248084435 G A SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.116 p.G39D 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 106 0 0.00 56 16 22.22 OR5M8 0 genome.wustl.edu 37 11 56258413 56258413 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 56258413 56258413 G A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.434 p.T145M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 tier1 - - 139 0 0.00 81 32 28.32 OR8D4 0 genome.wustl.edu 37 11 123777192 123777192 + Silent SNP T T A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 123777192 123777192 T A SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known silent c.54 p.T18 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 tier1 - - 109 0 0.00 50 40 43.96 PASD1 0 genome.wustl.edu 37 X 150817141 150817142 + In_Frame_Ins INS - - GCT TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 150817141 150817142 - GCT INS PASD1 ENST00000370357 human ensembl 74_37 +1 known in_frame_ins c.684_685 p.232in_frame_insA 0.000:0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 126 0 0.00 182 16 8.08 PAXBP1 0 genome.wustl.edu 37 21 34143763 34143763 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 21 34143763 34143763 C G SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.217 p.A73P 0.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 - - 17 0 0.00 1 5 83.33 PCCA 0 genome.wustl.edu 37 13 100861643 100861643 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 100861643 100861643 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.526 p.D176N 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 tier1 - - 132 0 0.00 106 25 19.08 PHKA2 0 genome.wustl.edu 37 X 18972521 18972521 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 18972521 18972521 T C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.88 p.T30A 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 51 0 0.00 26 17 39.53 PIK3C3 0 genome.wustl.edu 37 18 39593494 39593494 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 39593494 39593494 A C SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1259 p.K420T 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 tier1 - - 144 0 0.00 81 9 10.00 PPP1R14B 0 genome.wustl.edu 37 11 64014017 64014017 + Silent SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 64014017 64014017 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 tier1 rs1063811 - 35 0 0.00 22 4 15.38 PSG5 0 genome.wustl.edu 37 19 43680242 43680242 + Silent SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 43680242 43680242 A G SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known silent c.489 p.D163 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 tier1 - - 393 0 0.00 253 52 17.05 PSKH2 0 genome.wustl.edu 37 8 87076473 87076473 + Nonsense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 87076473 87076473 G T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known nonsense c.573 p.Y191* 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 tier1 - - 76 0 0.00 61 16 20.78 PXDNL 0 genome.wustl.edu 37 8 52258490 52258490 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 52258490 52258490 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3919 p.Q1307E 0.000 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 PXDNL HGNC ENSG00000147485 tier1 - - 52 0 0.00 34 12 26.09 RAG2 0 genome.wustl.edu 37 11 36614717 36614717 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 36614717 36614717 G T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.1002 p.D334E 0.997 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 tier1 - - 265 0 0.00 174 88 33.59 RAP1GAP 0 genome.wustl.edu 37 1 21978087 21978088 + RNA DEL AC AC - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 21978087 21978088 AC - DEL RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.018 - - - no_errors RAP1GAP HGNC ENSG00000076864 tier1 19 0 0.00 22 3 12.00 REV3L 0 genome.wustl.edu 37 6 111696187 111696187 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 111696187 111696187 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3371 p.S1124F 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 163 0 0.00 144 21 12.73 RGPD3 0 genome.wustl.edu 37 2 107041104 107041104 + Nonsense_Mutation SNP T T A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 107041104 107041104 T A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known nonsense c.3319 p.K1107* 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 499 0 0.00 370 71 16.10 RGPD3 0 genome.wustl.edu 37 2 107041119 107041119 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 107041119 107041119 T C SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3304 p.R1102G 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 558 0 0.00 422 79 15.77 RGS11 0 genome.wustl.edu 37 16 321404 321404 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 321404 321404 A C SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.743 p.L248R 0.988 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 tier1 - - 110 0 0.00 51 23 31.08 RUNX2 0 genome.wustl.edu 37 6 45515013 45515014 + Frame_Shift_Del DEL AT AT - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 45515013 45515014 AT - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.1741_1742 p.M581fs 1.000:1.000 pfam_RunxI_C_dom pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 160 0 0.00 117 17 12.69 RUNX2 0 genome.wustl.edu 37 6 45515017 45515017 + Frame_Shift_Del DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 45515017 45515017 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.1745 p.D582fs 1.000 pfam_RunxI_C_dom pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 162 0 0.00 116 17 12.78 RUNX2 0 genome.wustl.edu 37 6 45515018 45515018 + Missense_Mutation SNP T T G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 45515018 45515018 T G SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1746 p.D582E 1.000 pfam_RunxI_C_dom pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 164 0 0.00 110 19 14.73 RYR2 0 genome.wustl.edu 37 1 237729867 237729867 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 237729867 237729867 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3209 p.A1070E 0.994 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 52 0 0.00 21 6 22.22 SLC28A2 0 genome.wustl.edu 37 15 45558303 45558303 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 45558303 45558303 A C SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.886 p.M296L 0.999 pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 tier1 - - 61 0 0.00 66 11 14.29 SMTN 0 genome.wustl.edu 37 22 31487081 31487081 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 22 31487081 31487081 C G SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.1072 p.P358A 0.019 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 177 0 0.00 85 26 23.42 SRCAP 0 genome.wustl.edu 37 16 30723019 30723019 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 30723019 30723019 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.1446 p.P482 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 rs147749391 - 179 0 0.00 123 73 37.24 STAG1 0 genome.wustl.edu 37 3 136057273 136057273 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 136057273 136057273 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3692 p.R1231Q 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 84 0 0.00 85 23 21.30 SYNE1 0 genome.wustl.edu 37 6 152646247 152646247 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 152646247 152646247 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15629 p.V5210E 0.936 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 188 0 0.00 102 49 32.24 TCEAL5 0 genome.wustl.edu 37 X 102529210 102529210 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 102529210 102529210 G T SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known silent c.282 p.A94 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 tier1 - - 165 0 0.00 134 14 9.46 TCEB3B 0 genome.wustl.edu 37 18 44560580 44560580 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 44560580 44560580 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1056 p.P352 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 103 0 0.00 47 27 36.49 TET2 0 genome.wustl.edu 37 4 106155173 106155173 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 106155173 106155173 G T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.74 p.C25F 0.997 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 61 0 0.00 21 18 46.15 TMEM108 0 genome.wustl.edu 37 3 133098807 133098807 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 133098807 133098807 G A SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known silent c.252 p.P84 0.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 tier1 - - 170 0 0.00 196 28 12.44 TP53 0 genome.wustl.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 7577081 7577081 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.857 p.E286G 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 85 0 0.00 20 27 57.45 TRIM68 0 genome.wustl.edu 37 11 4623468 4623468 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 4623468 4623468 C T SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.697 p.E233K 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 tier1 - - 110 0 0.00 46 31 40.26 TTN-AS1 0 genome.wustl.edu 37 2 179462574 179462574 + RNA SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 179462574 179462574 G T SNP TTN-AS1 ENST00000592689 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 57 0 0.00 33 3 8.33 ULK4P2 0 genome.wustl.edu 37 15 30878111 30878111 + RNA SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 30878111 30878111 G C SNP ULK4P2 ENST00000561753 human ensembl 74_37 +1 putative rna NULL NULL 0.996 - - - no_errors ULK4P2 HGNC ENSG00000260128 tier1 - - 11 0 0.00 6 5 45.45 UROC1 0 genome.wustl.edu 37 3 126216937 126216937 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 126216937 126216937 G A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known silent c.1395 p.D465 0.132 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 tier1 - - 368 0 0.00 201 39 16.18 ZAP70 0 genome.wustl.edu 37 2 98340579 98340579 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 98340579 98340579 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.80 p.A27V 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 9 0 0.00 7 4 36.36 ZFR2 0 genome.wustl.edu 37 19 3831839 3831839 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 3831839 3831839 G T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.417 p.G139 0.031 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 50 0 0.00 15 12 44.44 ZNF324 0 genome.wustl.edu 37 19 58982761 58982761 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 58982761 58982761 C T SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.902 p.T301M 0.977 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 ZNF324 HGNC ENSG00000083812 tier1 - - 81 0 0.00 36 10 21.74 ZNF764 0 genome.wustl.edu 37 16 30569372 30569372 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 30569372 30569372 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.132 p.R44 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF764 HGNC ENSG00000169951 tier1 - - 32 0 0.00 33 4 10.81 ZRANB2 0 genome.wustl.edu 37 1 71536674 71536675 + Frame_Shift_Del DEL CT CT - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 71536674 71536675 CT - DEL ZRANB2 ENST00000370920 human ensembl 74_37 -1 known frame_shift_del c.519_518 p.E173fs 1.000:1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 tier1 36 0 0.00 35 2 5.41 FLG 0 genome.wustl.edu 37 1 152286006 152286006 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 152286006 152286006 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1356 p.E452D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 381 0 0 329 69 17.3367 SLC9C2 0 genome.wustl.edu 37 1 173526566 173526566 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 173526566 173526566 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.1128 p.T376 0.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 280 0 0 122 29 19.2053 LAD1 0 genome.wustl.edu 37 1 201356225 201356225 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 201356225 201356225 G C SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.306 p.I102M 0.976 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 54 0 0 14 16 53.3333 KCNK1 0 genome.wustl.edu 37 1 233749934 233749934 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 233749934 233749934 C T SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.17 p.A6V 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 20 0 0 16 6 27.2727 RYR2 0 genome.wustl.edu 37 1 237729867 237729867 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 237729867 237729867 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3209 p.A1070E 0.994 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 49 0 0 20 5 20 GRHL3 0 genome.wustl.edu 37 1 24664230 24664230 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 24664230 24664230 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.791 p.R264Q 1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 86 0 0 28 10 26.3158 OR2T8 0 genome.wustl.edu 37 1 248084435 248084435 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 248084435 248084435 G A SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.116 p.G39D 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 105 0 0 55 17 23.6111 MACF1 0 genome.wustl.edu 37 1 39797927 39797927 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 1 39797927 39797927 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.5778 p.L1926 0.342 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 122 0 0 88 26 22.807 ITGA8 0 genome.wustl.edu 37 10 15600155 15600155 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 15600155 15600155 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.2684 p.R895Q 0.009 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 115 0 0 57 11 16.1765 ARMC4 0 genome.wustl.edu 37 10 28260195 28260195 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 28260195 28260195 G T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.984 p.G328 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 67 0 0 40 16 28.5714 LRRC18 0 genome.wustl.edu 37 10 50122144 50122144 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 10 50122144 50122144 C A SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.57 p.R19S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 57 0 0 39 8 17.0213 OR10G8 0 genome.wustl.edu 37 11 123900399 123900399 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 123900399 123900399 C G SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.70 p.P24A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 221 0 0 149 14 8.58896 RPL26P30 0 genome.wustl.edu 37 11 2356928 2356928 + RNA SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 2356928 2356928 A G SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 0.971 - - - no_errors RPL26P30 HGNC ENSG00000236264 218 0 0 229 15 6.14754 RAG2 0 genome.wustl.edu 37 11 36614717 36614717 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 36614717 36614717 G T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.1002 p.D334E 0.997 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 239 0 0 158 78 33.0508 TRIM68 0 genome.wustl.edu 37 11 4623468 4623468 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 4623468 4623468 C T SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.697 p.E233K 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 104 0 0 44 30 40.5405 OR5M8 0 genome.wustl.edu 37 11 56258413 56258413 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 56258413 56258413 G A SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.434 p.T145M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 131 0 0 75 28 27.1845 CTNND1 0 genome.wustl.edu 37 11 57571235 57571235 + Missense_Mutation SNP T T G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 57571235 57571235 T G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.1563 p.I521M 0.987 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 37 0 0 25 12 32.4324 ME3 0 genome.wustl.edu 37 11 86158141 86158141 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 86158141 86158141 T C SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1346 p.E449G 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 74 0 0 46 3 6.12245 PCCA 0 genome.wustl.edu 37 13 100861643 100861643 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 100861643 100861643 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.526 p.D176N 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 120 0 0 96 22 18.6441 ATP11A 0 genome.wustl.edu 37 13 113516788 113516788 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 113516788 113516788 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.2890 p.V964M 0.391 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 43 0 0 22 18 45 ENSG00000243008 0 genome.wustl.edu 37 13 25144833 25144833 + RNA SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 25144833 25144833 A G SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 36 0 0 59 4 6.34921 HTR2A 0 genome.wustl.edu 37 13 47409144 47409144 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 13 47409144 47409144 G C SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1244 p.P415R 1.000 prints_5HT2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 149 0 0 116 23 16.5468 AHNAK2 0 genome.wustl.edu 37 14 105419206 105419206 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 14 105419206 105419206 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2582 p.P861L 0.156 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 433 0 0 306 104 25.3659 NPAP1 0 genome.wustl.edu 37 15 24921998 24921998 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 24921998 24921998 G C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.984 p.R328S 0.008 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 94 0 0 88 12 12 ULK4P2 0 genome.wustl.edu 37 15 30878111 30878111 + RNA SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 30878111 30878111 G C SNP ULK4P2 ENST00000561753 human ensembl 74_37 +1 putative rna NULL NULL 0.996 - - - no_errors ULK4P2 HGNC ENSG00000260128 9 0 0 5 3 37.5 CASC5 0 genome.wustl.edu 37 15 40898609 40898609 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 15 40898609 40898609 A T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.94 p.S32C 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 45 0 0 31 5 13.8889 TMC7 0 genome.wustl.edu 37 16 19056299 19056299 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 19056299 19056299 C T SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known silent c.1431 p.C477 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 244 1 0.408163 194 35 15.2838 SRCAP 0 genome.wustl.edu 37 16 30723019 30723019 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 30723019 30723019 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.1446 p.P482 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 165 0 0 112 65 36.7232 C16orf93 0 genome.wustl.edu 37 16 30768964 30768964 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 30768964 30768964 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known missense c.829 p.V277I 0.000 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 86 0 0 71 29 29 RGS11 0 genome.wustl.edu 37 16 321404 321404 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 321404 321404 A C SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.743 p.L248R 0.988 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 94 0 0 45 19 29.6875 MMP2 0 genome.wustl.edu 37 16 55532322 55532322 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 16 55532322 55532322 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.1731 p.N577 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 118 0 0 39 42 51.8519 KCNJ2 0 genome.wustl.edu 37 17 68171316 68171316 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 68171316 68171316 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.136 p.R46C 1.000 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 92 0 0 62 26 29.5455 TP53 0 genome.wustl.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 7577081 7577081 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.857 p.E286G 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 81 0 0 19 27 58.6957 DNAH17 0 genome.wustl.edu 37 17 76502891 76502891 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 76502891 76502891 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4702 p.E1568K 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 137 0 0 92 23 20 ASXL3 0 genome.wustl.edu 37 18 31326439 31326439 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 31326439 31326439 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6627 p.L2209 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 107 0 0 43 16 27.1186 PIK3C3 0 genome.wustl.edu 37 18 39593494 39593494 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 39593494 39593494 A C SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1259 p.K420T 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 126 0 0 73 8 9.87654 TCEB3B 0 genome.wustl.edu 37 18 44560580 44560580 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 44560580 44560580 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1056 p.P352 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 99 0 0 46 24 34.2857 DSEL 0 genome.wustl.edu 37 18 65179408 65179408 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 65179408 65179408 A C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2468 p.F823C 0.998 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 184 0 0 91 28 23.5294 DSEL 0 genome.wustl.edu 37 18 65179532 65179532 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 18 65179532 65179532 A T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2344 p.F782I 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 81 0 0 44 16 26.6667 CACNA1A 0 genome.wustl.edu 37 19 13335579 13335579 + Missense_Mutation SNP A A C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 13335579 13335579 A C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.5633 p.L1878R 0.964 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 18 0 0 8 7 46.6667 ZFR2 0 genome.wustl.edu 37 19 3831839 3831839 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 3831839 3831839 G T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.417 p.G139 0.031 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 40 0 0 13 10 43.4783 CYP2A7 0 genome.wustl.edu 37 19 41387596 41387596 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 41387596 41387596 G C SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.241 p.L81V 0.882 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 52 0 0 26 8 23.5294 PSG5 0 genome.wustl.edu 37 19 43680242 43680242 + Silent SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 43680242 43680242 A G SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known silent c.489 p.D163 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 366 0 0 230 48 17.2662 KLK13 0 genome.wustl.edu 37 19 51561828 51561828 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 51561828 51561828 G A SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known silent c.612 p.A204 0.630 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,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 295 0 0 96 91 48.6631 GALP 0 genome.wustl.edu 37 19 56688494 56688494 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 56688494 56688494 T C SNP GALP ENST00000357330 human ensembl 74_37 +1 known missense c.17 p.V6A 0.000 NULL pfam_Galanin - no_errors GALP HGNC ENSG00000197487 45 0 0 25 3 10.7143 ZNF324 0 genome.wustl.edu 37 19 58982761 58982761 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 58982761 58982761 C T SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.902 p.T301M 0.977 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 ZNF324 HGNC ENSG00000083812 71 0 0 34 8 19.0476 ARHGEF18 0 genome.wustl.edu 37 19 7533816 7533816 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 19 7533816 7533816 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.3022 p.E1008K 0.994 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 15 0 0 7 4 36.3636 RGPD3 0 genome.wustl.edu 37 2 107041104 107041104 + Nonsense_Mutation SNP T T A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 107041104 107041104 T A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known nonsense c.3319 p.K1107* 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 457 0 0 337 65 16.1692 RGPD3 0 genome.wustl.edu 37 2 107041119 107041119 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 107041119 107041119 T C SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3304 p.R1102G 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 534 0 0 404 75 15.6576 ALPPL2 0 genome.wustl.edu 37 2 233274324 233274324 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 2 233274324 233274324 C T SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known silent c.1341 p.D447 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 44 0 0 23 6 20.6897 MORC3 0 genome.wustl.edu 37 21 37736421 37736421 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 21 37736421 37736421 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 79 0 0 33 37 52.8571 COL6A2 0 genome.wustl.edu 37 21 47552453 47552453 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 21 47552453 47552453 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.3047 p.R1016H 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 24 0 0 4 11 73.3333 SMTN 0 genome.wustl.edu 37 22 31487081 31487081 + Missense_Mutation SNP C C G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 22 31487081 31487081 C G SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.1072 p.P358A 0.019 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 157 0 0 72 24 25 UROC1 0 genome.wustl.edu 37 3 126216937 126216937 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 126216937 126216937 G A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known silent c.1395 p.D465 0.132 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 336 0 0 179 34 15.9624 TMEM108 0 genome.wustl.edu 37 3 133098807 133098807 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 133098807 133098807 G A SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known silent c.252 p.P84 0.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 157 0 0 184 27 12.7962 STAG1 0 genome.wustl.edu 37 3 136057273 136057273 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 136057273 136057273 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3692 p.R1231Q 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 79 0 0 73 20 21.5054 DZIP1L 0 genome.wustl.edu 37 3 137787139 137787139 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 137787139 137787139 C T SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known silent c.1686 p.L562 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 122 0 0 141 15 9.61538 IFT80 0 genome.wustl.edu 37 3 160000343 160000343 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 160000343 160000343 G C SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known missense c.1952 p.A651G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 26 0 0 34 3 8.10811 LRRC15 0 genome.wustl.edu 37 3 194080743 194080743 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 194080743 194080743 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1048 p.R350W 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 60 0 0 60 19 24.0506 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 49 0 0 73 4 5.19481 TET2 0 genome.wustl.edu 37 4 106155173 106155173 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 106155173 106155173 G T SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.74 p.C25F 0.997 NULL NULL - no_errors TET2 HGNC ENSG00000168769 58 0 0 20 17 45.9459 BBS12 0 genome.wustl.edu 37 4 123664305 123664305 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 123664305 123664305 G C SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1258 p.E420Q 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 104 0 0 32 24 42.8571 LPHN3 0 genome.wustl.edu 37 4 62813854 62813854 + Missense_Mutation SNP T T G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 62813854 62813854 T G SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2665 p.W889G 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 41 0 0 15 4 21.0526 GRID2 0 genome.wustl.edu 37 4 94436522 94436522 + Missense_Mutation SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 4 94436522 94436522 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2153 p.S718L 0.804 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 93 0 0 43 18 29.5082 FBN2 0 genome.wustl.edu 37 5 127681048 127681048 + Splice_Site SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 127681048 127681048 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known splice_site c.3217+1 e24+1 1.000 - - - no_errors FBN2 HGNC ENSG00000138829 161 0 0 70 22 23.913 GDF9 0 genome.wustl.edu 37 5 132198130 132198130 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 132198130 132198130 G A SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known silent c.516 p.V172 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 158 0 0 97 11 10.1852 F2R 0 genome.wustl.edu 37 5 76028577 76028577 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 76028577 76028577 G C SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.527 p.R176P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 297 0 0 165 48 22.5352 DMGDH 0 genome.wustl.edu 37 5 78326751 78326751 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 78326751 78326751 C A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1588 p.A530S 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 55 0 0 19 24 55.814 REV3L 0 genome.wustl.edu 37 6 111696187 111696187 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 111696187 111696187 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3371 p.S1124F 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 155 0 0 135 19 12.3377 SYNE1 0 genome.wustl.edu 37 6 152646247 152646247 + Missense_Mutation SNP A A T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 152646247 152646247 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15629 p.V5210E 0.936 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 172 0 0 93 46 33.0935 AGPAT4 0 genome.wustl.edu 37 6 161567587 161567587 + Missense_Mutation SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 161567587 161567587 G A SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.812 p.S271L 0.794 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 79 0 0 47 14 22.9508 MB21D1 0 genome.wustl.edu 37 6 74135216 74135216 + Missense_Mutation SNP A A G TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 6 74135216 74135216 A G SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1303 p.S435P 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 27 0 0 22 11 33.3333 CDK13 0 genome.wustl.edu 37 7 40132790 40132790 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 7 40132790 40132790 G A SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.3642 p.A1214 0.000 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 CDK13 HGNC ENSG00000065883 73 0 0 52 16 23.5294 CSMD3 0 genome.wustl.edu 37 8 113649203 113649203 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 113649203 113649203 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.3558 p.G1186 0.923 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 123 0 0 101 17 14.4068 DLGAP2 0 genome.wustl.edu 37 8 1624759 1624759 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 1624759 1624759 G T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2023 p.G675W 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 30 0 0 11 3 21.4286 KIF13B 0 genome.wustl.edu 37 8 29102864 29102864 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 29102864 29102864 G C SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.148 p.R50G 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 14 0 0 6 4 40 PXDNL 0 genome.wustl.edu 37 8 52258490 52258490 + Missense_Mutation SNP G G C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 52258490 52258490 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3919 p.Q1307E 0.000 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 PXDNL HGNC ENSG00000147485 44 0 0 31 12 27.907 PSKH2 0 genome.wustl.edu 37 8 87076473 87076473 + Nonsense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 8 87076473 87076473 G T SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known nonsense c.573 p.Y191* 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 69 0 0 58 14 19.4444 OR1L4 0 genome.wustl.edu 37 9 125486292 125486292 + Missense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 9 125486292 125486292 C A SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.24 p.S8R 0.024 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 173 0 0 188 27 12.5581 OLFML2A 0 genome.wustl.edu 37 9 127566440 127566440 + Silent SNP C C T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 9 127566440 127566440 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.987 p.S329 0.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 84 0 0 62 7 10.1449 TCEAL5 0 genome.wustl.edu 37 X 102529210 102529210 + Silent SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 102529210 102529210 G T SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known silent c.282 p.A94 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 149 0 0 119 14 10.5263 MCF2 0 genome.wustl.edu 37 X 138698452 138698452 + Missense_Mutation SNP G G T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 138698452 138698452 G T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1615 p.P539T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 18 0 0 30 8 21.0526 PHKA2 0 genome.wustl.edu 37 X 18972521 18972521 + Missense_Mutation SNP T T C TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 18972521 18972521 T C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.88 p.T30A 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 43 0 0 24 16 40 DDX3X 0 genome.wustl.edu 37 X 41205632 41205632 + Nonsense_Mutation SNP C C A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 41205632 41205632 C A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known nonsense c.1466 p.S489* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 48 0 0 12 36 75 FAM104B 0 genome.wustl.edu 37 X 55172586 55172586 + Silent SNP G G A TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 X 55172586 55172586 G A SNP FAM104B ENST00000425133 human ensembl 74_37 -1 known silent c.282 p.S94 0.008 NULL NULL - no_errors FAM104B HGNC ENSG00000182518 42 0 0 49 3 5.76923 OR8D4 0 genome.wustl.edu 37 11 123777194 123777194 + Frame_Shift_Del DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 123777194 123777194 A - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.56 p.E19fs 0.374 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 112 0 0 53 38 41.7582 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 47 0 0 41 13 24.0741 FAM186B 0 genome.wustl.edu 37 12 49998170 49998171 + Frame_Shift_Ins INS - - T TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 12 49998170 49998171 - T INS FAM186B ENST00000257894 human ensembl 74_37 -1 known frame_shift_ins c.248_247 p.I83fs 0.997:0.998 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 108 0 0 69 23 25 BPTF 0 genome.wustl.edu 37 17 65942002 65942003 + Frame_Shift_Del DEL CA CA - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 17 65942002 65942003 CA - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.7556_7557 p.Q2520fs 1.000:1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 90 0 0 76 12 13.6364 CAMK4 0 genome.wustl.edu 37 5 110710554 110710554 + Frame_Shift_Del DEL A A - TCGA-B7-A5TN-01A-21D-A31L-08 TCGA-B7-A5TN-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d61403b6-dcc5-46e2-97d6-ec37e494dd48 06da164d-914e-49b2-afac-ce692e3108d4 5 110710554 110710554 A - DEL CAMK4 ENST00000282356 human ensembl 74_37 +1 known frame_shift_del c.247 p.I85fs 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 51 0 0 35 14 28.5714