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 TBX15 0 genome.wustl.edu 37 1 119427517 119427517 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 119427517 119427517 G A SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.1329 p.N443 0.115 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 44 0 0 40 17 29.8246 SMG5 0 genome.wustl.edu 37 1 156222291 156222291 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 156222291 156222291 G A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known silent c.2667 p.I889 0.561 smart_PIN_dom pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 49 0 0 27 26 49.0566 CFHR3 0 genome.wustl.edu 37 1 196748348 196748348 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 196748348 196748348 C T SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.115 p.R39C 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 79 0 0 60 22 26.8293 IKBKE 0 genome.wustl.edu 37 1 206650166 206650166 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 206650166 206650166 G A SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.686 p.R229Q 1.000 pfam_Prot_kinase_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 IKBKE HGNC ENSG00000143466 108 0 0 61 39 39 RYR2 0 genome.wustl.edu 37 1 237729908 237729908 + Nonsense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 237729908 237729908 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.3250 p.R1084* 1.000 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 57 0 0 30 20 40 RYR2 0 genome.wustl.edu 37 1 237794733 237794733 + Silent SNP T T A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 1 237794733 237794733 T A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.6441 p.I2147 0.989 pfam_Ca-rel_channel 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 31 0 0 16 11 40.7407 SEC31B 0 genome.wustl.edu 37 10 102265860 102265860 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 10 102265860 102265860 C A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.981 p.W327C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 184 1 0.540541 127 65 33.8542 C10orf71 0 genome.wustl.edu 37 10 50530852 50530852 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 10 50530852 50530852 C A SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.262 p.Q88K 0.494 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 107 0 0 59 37 38.5417 GRID1 0 genome.wustl.edu 37 10 87379661 87379661 + Missense_Mutation SNP G G T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 10 87379661 87379661 G T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2323 p.Q775K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRID1 HGNC ENSG00000182771 58 0 0 37 20 35.0877 KIAA1377 0 genome.wustl.edu 37 11 101833261 101833261 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 101833261 101833261 G A SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.1495 p.D499N 0.597 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 32 0 0 31 2 6.06061 DYNC2H1 0 genome.wustl.edu 37 11 103086494 103086494 + Silent SNP A A G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 103086494 103086494 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.8739 p.E2913 0.988 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 19 0 0 17 4 19.0476 CSNK2A3 0 genome.wustl.edu 37 11 11373733 11373733 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 11373733 11373733 G A SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.934 p.R312W 0.994 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 85 0 0 59 19 24.359 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5655984 5655984 + Missense_Mutation SNP A A G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 5655984 5655984 A G SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.1705 p.K569E 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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 72 0 0 49 16 24.6154 DTX4 0 genome.wustl.edu 37 11 58949457 58949457 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 58949457 58949457 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.457 p.V153I 0.212 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 88 0 0 57 37 39.3617 MEN1 0 genome.wustl.edu 37 11 64572604 64572604 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 64572604 64572604 C A SNP MEN1 ENST00000337652 human ensembl 74_37 -1 known missense c.1267 p.D423Y 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 58 0 0 48 23 32.3944 MEN1 0 genome.wustl.edu 37 11 64575026 64575026 + Nonsense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 64575026 64575026 G A SNP MEN1 ENST00000337652 human ensembl 74_37 -1 known nonsense c.796 p.Q266* 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 64 0 0 38 11 22.449 CARNS1 0 genome.wustl.edu 37 11 67191993 67191993 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 67191993 67191993 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.2774 p.R925H 0.998 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 14 0 0 9 6 40 UCP3 0 genome.wustl.edu 37 11 73717372 73717372 + Missense_Mutation SNP C C G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 73717372 73717372 C G SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known missense c.179 p.G60A 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 22 0 0 9 4 30.7692 MYO7A 0 genome.wustl.edu 37 11 76893499 76893499 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 76893499 76893499 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.3139 p.R1047C 0.952 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 22 0 0 7 5 41.6667 ACAD10 0 genome.wustl.edu 37 12 112193499 112193499 + Missense_Mutation SNP A A C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 12 112193499 112193499 A C SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.3082 p.K1028Q 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 195 0 0 153 93 37.8049 TAS2R43 0 genome.wustl.edu 37 12 11244154 11244154 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 12 11244154 11244154 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.675 p.I225M 0.201 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 114 0 0 88 54 38.0282 IL31 0 genome.wustl.edu 37 12 122658467 122658467 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 12 122658467 122658467 C T SNP IL31 ENST00000377035 human ensembl 74_37 -1 known missense c.89 p.R30H 0.000 NULL NULL - no_errors IL31 HGNC ENSG00000204671 86 0 0 54 33 37.931 ACVR1B 0 genome.wustl.edu 37 12 52387827 52387827 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 12 52387827 52387827 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.1451 p.R484H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 141 0 0 45 34 43.038 ZMYM2 0 genome.wustl.edu 37 13 20641135 20641135 + Silent SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 13 20641135 20641135 C T SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known silent c.3277 p.L1093 0.025 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 48 0 0 41 20 32.7869 NUFIP1 0 genome.wustl.edu 37 13 45523975 45523975 + Splice_Site SNP T T A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 13 45523975 45523975 T A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known splice_site c.1022-2 e8-2 1.000 - - - no_errors NUFIP1 HGNC ENSG00000083635 36 0 0 43 5 10.4167 DNM1P47 0 genome.wustl.edu 37 15 102292813 102292813 + RNA SNP T T G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 102292813 102292813 T G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DNM1P47 HGNC ENSG00000259660 36 0 0 41 4 8.88889 WASH3P 0 genome.wustl.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 102515299 102515299 G A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 29 0 0 21 5 19.2308 APBA2 0 genome.wustl.edu 37 15 29406154 29406154 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 29406154 29406154 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.2113 p.G705R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 95 0 0 75 30 28.5714 WDR76 0 genome.wustl.edu 37 15 44120487 44120487 + Missense_Mutation SNP G G T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 44120487 44120487 G T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known missense c.385 p.A129S 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 103 0 0 77 36 31.8584 UNC13C 0 genome.wustl.edu 37 15 54630687 54630687 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 54630687 54630687 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.4713 p.P1571 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 79 0 0 54 19 26.0274 TBC1D2B 0 genome.wustl.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 78290635 78290635 C T SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.2759 p.R920Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 16 0 0 7 2 22.2222 FAM154B 0 genome.wustl.edu 37 15 82575372 82575372 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 82575372 82575372 G A SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known missense c.1166 p.R389H 1.000 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 79 0 0 35 26 42.623 TEKT5 0 genome.wustl.edu 37 16 10729625 10729625 + Missense_Mutation SNP A A T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 16 10729625 10729625 A T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.1237 p.L413M 0.995 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 160 0 0 110 46 29.4872 CYLD 0 genome.wustl.edu 37 16 50785785 50785785 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 16 50785785 50785785 G A SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.775 p.E259K 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 48 0 0 38 13 25.4902 TBC1D27 0 genome.wustl.edu 37 17 16835804 16835804 + RNA SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 17 16835804 16835804 C T SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.841 - - - no_errors TBC1D27 HGNC ENSG00000128438 62 0 0 18 9 33.3333 TEX14 0 genome.wustl.edu 37 17 56665028 56665028 + Splice_Site SNP C C G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 17 56665028 56665028 C G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known splice_site c.2721-1 e16-1 0.992 - - - no_errors TEX14 HGNC ENSG00000121101 63 0 0 31 9 22.5 SCN4A 0 genome.wustl.edu 37 17 62049998 62049998 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 17 62049998 62049998 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.204 p.Y68 0.430 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 12 0 0 6 6 50 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 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 41 0 0 14 11 44 FASN 0 genome.wustl.edu 37 17 80046085 80046085 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 17 80046085 80046085 T C SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.2692 p.T898A 0.998 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 58 0 0 54 19 26.0274 LAMA1 0 genome.wustl.edu 37 18 6942154 6942154 + Missense_Mutation SNP A A G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 18 6942154 6942154 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.9152 p.V3051A 0.835 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 79 0 0 47 25 34.7222 NETO1 0 genome.wustl.edu 37 18 70417340 70417340 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 18 70417340 70417340 T C SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1498 p.T500A 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 58 0 0 47 15 24.1935 ILVBL 0 genome.wustl.edu 37 19 15233935 15233935 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 15233935 15233935 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.457 p.L153 0.989 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 86 0 0 54 34 38.6364 ATP4A 0 genome.wustl.edu 37 19 36049507 36049507 + Missense_Mutation SNP G G T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 36049507 36049507 G T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1337 p.S446Y 0.999 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 11 0 0 13 3 18.75 C5AR1 0 genome.wustl.edu 37 19 47823124 47823124 + Silent SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 47823124 47823124 T C SNP C5AR1 ENST00000355085 human ensembl 74_37 +1 known silent c.90 p.S30 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt - no_errors C5AR1 HGNC ENSG00000197405 82 0 0 81 34 29.5652 AP2A1 0 genome.wustl.edu 37 19 50302934 50302934 + Missense_Mutation SNP G G T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 50302934 50302934 G T SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.1183 p.A395S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 101 0 0 70 31 30.6931 FPR2 0 genome.wustl.edu 37 19 52272624 52272624 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 52272624 52272624 G A SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.713 p.R238H 0.743 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_DEZorph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 44 0 0 25 10 28.5714 SLC35F5 0 genome.wustl.edu 37 2 114513058 114513058 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 114513058 114513058 T C SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.104 p.E35G 0.994 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 41 0 0 21 15 41.6667 PXDN 0 genome.wustl.edu 37 2 1670198 1670198 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 1670198 1670198 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1079 p.T360M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 33 0 0 19 13 40.625 LRP2 0 genome.wustl.edu 37 2 170099465 170099465 + Splice_Site SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 170099465 170099465 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known splice_site c.3667+1 e24+1 1.000 - - - no_errors LRP2 HGNC ENSG00000081479 283 0 0 201 72 26.3736 TTN 0 genome.wustl.edu 37 2 179549695 179549695 + Missense_Mutation SNP A A G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 179549695 179549695 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28760 p.I9587T 0.505 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 10 0 0 10 3 23.0769 COL5A2 0 genome.wustl.edu 37 2 189933586 189933586 + Nonsense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 189933586 189933586 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known nonsense c.1183 p.R395* 0.434 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 33 0 0 21 10 32.2581 MYO1B 0 genome.wustl.edu 37 2 192194740 192194740 + Nonsense_Mutation SNP G G T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 192194740 192194740 G T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known nonsense c.331 p.G111* 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 159 0 0 126 42 25 GLB1L 0 genome.wustl.edu 37 2 220104395 220104395 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 220104395 220104395 C T SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.790 p.E264K 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 239 0 0 155 80 34.0426 NYAP2 0 genome.wustl.edu 37 2 226446838 226446838 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 226446838 226446838 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.705 p.A235 0.018 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 114 0 0 73 38 34.2342 PRR21 0 genome.wustl.edu 37 2 240981279 240981279 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 240981279 240981279 T C SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.1121 p.N374S 0.331 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 61 0 0 52 24 31.5789 MSH6 0 genome.wustl.edu 37 2 48025978 48025978 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 48025978 48025978 G A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.856 p.E286K 1.000 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 237 1 0.420168 163 57 25.9091 C2orf42 0 genome.wustl.edu 37 2 70392720 70392720 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 2 70392720 70392720 C T SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known missense c.1192 p.A398T 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 67 0 0 52 23 30.6667 FLRT3 0 genome.wustl.edu 37 20 14306395 14306395 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 20 14306395 14306395 G A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.1758 p.I586 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 99 0 0 145 8 5.22876 KCNQ2 0 genome.wustl.edu 37 20 62044877 62044877 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 20 62044877 62044877 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.1605 p.D535 0.094 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 134 0 0 131 46 25.9887 C20orf195 0 genome.wustl.edu 37 20 62187465 62187465 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 20 62187465 62187465 G A SNP C20orf195 ENST00000370097 human ensembl 74_37 +1 known missense c.449 p.R150Q 0.122 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 30 0 0 18 18 50 ENSG00000161103 0 genome.wustl.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 22 18844766 18844766 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.223 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 8 0 0 6 2 25 TUBA3FP 0 genome.wustl.edu 37 22 21363235 21363235 + RNA SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 22 21363235 21363235 C T SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 126 0 0 97 41 29.7101 SUSD2 0 genome.wustl.edu 37 22 24581487 24581487 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 22 24581487 24581487 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1018 p.V340M 0.991 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 10 0 0 6 2 25 PARP15 0 genome.wustl.edu 37 3 122334587 122334587 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 3 122334587 122334587 C T SNP PARP15 ENST00000310366 human ensembl 74_37 +1 known missense c.31 p.H11Y 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 54 0 0 28 2 6.66667 LSMEM2 0 genome.wustl.edu 37 3 50324175 50324175 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 3 50324175 50324175 G A SNP LSMEM2 ENST00000316436 human ensembl 74_37 +1 known silent c.243 p.P81 0.000 NULL NULL - no_errors LSMEM2 HGNC ENSG00000179564 69 0 0 50 3 5.66038 TMEM184C 0 genome.wustl.edu 37 4 148546061 148546061 + Missense_Mutation SNP T T A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 148546061 148546061 T A SNP TMEM184C ENST00000296582 human ensembl 74_37 +1 known missense c.398 p.L133Q 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC ENSG00000164168 121 0 0 140 8 5.40541 LRBA 0 genome.wustl.edu 37 4 151388910 151388910 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 151388910 151388910 T C SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.6728 p.Y2243C 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 135 0 0 121 47 27.9762 LIMCH1 0 genome.wustl.edu 37 4 41615625 41615625 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 41615625 41615625 C T SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.152 p.S51F 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 91 0 0 35 20 36.3636 JAKMIP1 0 genome.wustl.edu 37 4 6107592 6107592 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 6107592 6107592 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.232 p.E78K 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 39 0 0 14 17 54.8387 PKD2 0 genome.wustl.edu 37 4 88995977 88995977 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 88995977 88995977 G A SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known missense c.2536 p.V846M 1.000 prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 101 0 0 30 33 52.381 PDHA2 0 genome.wustl.edu 37 4 96761778 96761778 + Nonsense_Mutation SNP T T A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 4 96761778 96761778 T A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known nonsense c.477 p.Y159* 0.563 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 83 0 0 26 22 45.8333 AGXT2 0 genome.wustl.edu 37 5 35037136 35037136 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 5 35037136 35037136 G A SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.397 p.R133C 0.960 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 74 0 0 24 20 45.4545 AHI1 0 genome.wustl.edu 37 6 135784438 135784438 + Silent SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 135784438 135784438 C T SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known silent c.756 p.L252 0.001 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 99 0 0 70 22 23.913 SYNE1 0 genome.wustl.edu 37 6 152711429 152711429 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 152711429 152711429 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.8163 p.S2721 0.001 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 68 0 0 52 18 25.7143 HIST1H2AD 0 genome.wustl.edu 37 6 26199398 26199398 + Missense_Mutation SNP T T G TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 26199398 26199398 T G SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known missense c.74 p.Q25P 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 30 0 0 20 12 37.5 VPS52 0 genome.wustl.edu 37 6 33232167 33232167 + Missense_Mutation SNP T T C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 33232167 33232167 T C SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.1508 p.D503G 1.000 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 113 0 0 87 41 32.0312 DNPH1 0 genome.wustl.edu 37 6 43197129 43197129 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 43197129 43197129 G A SNP DNPH1 ENST00000230431 human ensembl 74_37 -1 known silent c.66 p.A22 0.243 NULL pfam_Nucleoside_deoxyribTrfase - no_errors DNPH1 HGNC ENSG00000112667 12 0 0 7 4 36.3636 RSPH9 0 genome.wustl.edu 37 6 43612845 43612845 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 43612845 43612845 G A SNP RSPH9 ENST00000372165 human ensembl 74_37 +1 known missense c.10 p.D4N 0.579 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 27 0 0 15 9 37.5 PKHD1 0 genome.wustl.edu 37 6 51882288 51882288 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 51882288 51882288 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.5520 p.C1840 0.988 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 152 0 0 126 73 36.6834 DST 0 genome.wustl.edu 37 6 56473421 56473421 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 6 56473421 56473421 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.5906 p.G1969V 0.999 pfam_Plectin_repeat,superfamily_ABC1_TM_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_ABC1_TM_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 DST HGNC ENSG00000151914 24 0 0 29 3 9.375 RELN 0 genome.wustl.edu 37 7 103290823 103290823 + Nonsense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 7 103290823 103290823 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.1900 p.R634* 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 78 0 0 66 19 22.3529 DNAH11 0 genome.wustl.edu 37 7 21695560 21695560 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 7 21695560 21695560 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.5070 p.E1690 0.412 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,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 47 0 0 34 2 5.55556 DPYS 0 genome.wustl.edu 37 8 105405080 105405080 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 8 105405080 105405080 C A SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1375 p.D459Y 0.949 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 251 0 0 165 78 32.0988 CSMD1 0 genome.wustl.edu 37 8 3263657 3263657 + Missense_Mutation SNP A A T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 8 3263657 3263657 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2161 p.S721T 0.998 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 CSMD1 HGNC ENSG00000183117 33 0 0 30 4 11.7647 RAB11FIP1 0 genome.wustl.edu 37 8 37729256 37729256 + Missense_Mutation SNP C C T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 8 37729256 37729256 C T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.3064 p.V1022I 0.001 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 45 0 0 28 19 40.4255 DCAF4L2 0 genome.wustl.edu 37 8 88885231 88885231 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 8 88885231 88885231 G A SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.969 p.N323 0.117 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 84 0 0 44 25 36.2319 ACTL7A 0 genome.wustl.edu 37 9 111625637 111625637 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 9 111625637 111625637 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known silent c.1035 p.K345 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 151 0 0 83 47 36.1538 CARD9 0 genome.wustl.edu 37 9 139262267 139262267 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 9 139262267 139262267 C A SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.1091 p.R364L 0.856 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 21 0 0 24 2 7.69231 PHPT1 0 genome.wustl.edu 37 9 139744466 139744466 + Silent SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 9 139744466 139744466 G A SNP PHPT1 ENST00000247665 human ensembl 74_37 +1 known silent c.162 p.A54 0.987 pfam_Ocnus pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 107 0 0 86 27 23.8938 IARS 0 genome.wustl.edu 37 9 95009740 95009740 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 9 95009740 95009740 G A SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2710 p.R904C 1.000 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 69 0 0 48 34 41.4634 MCF2 0 genome.wustl.edu 37 X 138724648 138724648 + Missense_Mutation SNP C C A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 X 138724648 138724648 C A SNP MCF2 ENST00000338585 human ensembl 74_37 -1 known missense c.30 p.K10N 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_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 169 0 0 51 112 68.7117 SLITRK2 0 genome.wustl.edu 37 X 144906417 144906417 + Missense_Mutation SNP A A C TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 X 144906417 144906417 A C SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.2474 p.K825T 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 66 0 0 27 45 62.5 ATP2B3 0 genome.wustl.edu 37 X 152807375 152807375 + Missense_Mutation SNP G G A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 X 152807375 152807375 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.655 p.V219I 0.999 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 50 0 0 58 9 13.4328 MUC6 0 genome.wustl.edu 37 11 1018031 1018031 + Frame_Shift_Del DEL G G - TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 1018031 1018031 G - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.4770 p.M1591fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 572 0 0 470 114 19.5205 CNTN5 0 genome.wustl.edu 37 11 99827607 99827607 + Frame_Shift_Del DEL C C - TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 11 99827607 99827607 C - DEL CNTN5 ENST00000279463 human ensembl 74_37 +1 known frame_shift_del c.743 p.Q249fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 94 0 0 71 16 18.3908 EEF1DP3 0 genome.wustl.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 13 32527507 32527508 GT - DEL EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.035 - - - no_errors EEF1DP3 HGNC ENSG00000229715 81 0 0 69 5 6.75676 HDC 0 genome.wustl.edu 37 15 50534549 50534550 + Frame_Shift_Ins INS - - T TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 15 50534549 50534550 - T INS HDC ENST00000267845 human ensembl 74_37 -1 known frame_shift_ins c.1897_1896 p.L632fs 0.991:0.991 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 90 0 0 86 30 25.8621 MYO9B 0 genome.wustl.edu 37 19 17294679 17294680 + Splice_Site INS - - A TCGA-IN-7806-01A-11D-2053-08 TCGA-IN-7806-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 576a1741-8c65-40da-9f0f-b2ca805d70f3 970c4bae-8c4f-423f-948b-5da4a38b8e09 19 17294679 17294680 - A INS MYO9B ENST00000594824 human ensembl 74_37 +1 known splice_site_ins c.2373+2_2373+1 e15+2 1.000:1.000 - - - no_errors MYO9B HGNC ENSG00000099331 9 0 0 8 3 27.2727