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 A2M 2 genome.wustl.edu 37 12 9265031 9265031 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 9265031 9265031 G A SNP A2M ENST00000318602 human ensembl 70_37 -1 known silent c.372 p.N124 0.000 superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ADAM21P1 145241 genome.wustl.edu 37 14 70714087 70714087 + RNA SNP T T G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 70714087 70714087 T G SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ADAM21P1 145241 genome.wustl.edu 37 14 70714144 70714144 + RNA SNP A A G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 70714144 70714144 A G SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.121 - - - no_errors ADAM21P1 HGNC AEBP2 121536 genome.wustl.edu 37 12 19615499 19615499 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 19615499 19615499 C T SNP AEBP2 ENST00000398864 human ensembl 70_37 +1 known missense c.727 p.P243S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC AGBL3 340351 genome.wustl.edu 37 7 134678270 134678270 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 134678270 134678270 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.73 p.P25S 0.982 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC AGBL3 340351 genome.wustl.edu 37 7 134678382 134678382 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 134678382 134678382 G A SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.185 p.R62Q 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ANHX 647589 genome.wustl.edu 37 12 133804466 133804466 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 133804466 133804466 C T SNP ANHX ENST00000419717 human ensembl 70_37 -1 known missense c.445 p.E149K 0.905 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ANHX HGNC BCORL1 63035 genome.wustl.edu 37 X 129171479 129171479 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 129171479 129171479 C T SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known silent c.4665 p.N1555 0.481 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BDKRB2 624 genome.wustl.edu 37 14 96707124 96707124 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 14 96707124 96707124 C T SNP BDKRB2 ENST00000306005 human ensembl 70_37 +1 known silent c.459 p.I153 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_B2_bradkn_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC BSPH1 100131137 genome.wustl.edu 37 19 48495318 48495318 + Silent SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 48495318 48495318 G C SNP BSPH1 ENST00000344839 human ensembl 70_37 -1 known silent c.21 p.L7 0.000 NULL pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors BSPH1 HGNC C10orf62 414157 genome.wustl.edu 37 10 99350069 99350069 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 99350069 99350069 C T SNP C10orf62 ENST00000370640 human ensembl 70_37 +1 known missense c.415 p.R139W 0.013 NULL NULL - no_errors C10orf62 HGNC C17orf53 78995 genome.wustl.edu 37 17 42232292 42232292 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 42232292 42232292 C T SNP C17orf53 ENST00000319977 human ensembl 70_37 +1 known silent c.1633 p.L545 1.000 NULL NULL - no_errors C17orf53 HGNC C4B 721 genome.wustl.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 31996297 31996297 G A SNP C4B ENST00000435363 human ensembl 70_37 +1 known missense c.3218 p.G1073D 0.060 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4B HGNC CASP5 838 genome.wustl.edu 37 11 104878040 104878041 + Frame_Shift_Ins INS - - T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 11 104878040 104878041 - T INS CASP5 ENST00000393141 human ensembl 70_37 -1 known frame_shift_ins c.242_241 p.T81fs 0.000:0.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC CBR3-AS1 100506428 genome.wustl.edu 37 21 37504209 37504210 + RNA INS - - AAAT TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 21 37504209 37504210 - AAAT INS CBR3-AS1 ENST00000413862 human ensembl 70_37 -1 known rna NULL NULL 0.997:0.993 - - - no_errors CBR3-AS1 HGNC CDH7 1005 genome.wustl.edu 37 18 63547856 63547856 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 18 63547856 63547856 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.2084 p.R695Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CFHR3 10878 genome.wustl.edu 37 1 196749069 196749069 + Missense_Mutation SNP A A T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 196749069 196749069 A T SNP CFHR3 ENST00000367425 human ensembl 70_37 +1 known missense c.396 p.K132N 0.008 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC CPA1 1357 genome.wustl.edu 37 7 130021600 130021600 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 130021600 130021600 G A SNP CPA1 ENST00000011292 human ensembl 70_37 +1 known missense c.277 p.V93M 0.310 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC CTNND2 1501 genome.wustl.edu 37 5 11199587 11199587 + Missense_Mutation SNP C C G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 11199587 11199587 C G SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known missense c.1948 p.D650H 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC EHD4 30844 genome.wustl.edu 37 15 42211424 42211424 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 42211424 42211424 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.908 p.R303Q 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC ELN 2006 genome.wustl.edu 37 7 73471762 73471762 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 73471762 73471762 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known missense c.1408 p.A470T 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64653 64653 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 GL000212.1 64653 64653 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.402 p.T134 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000216166 0 genome.wustl.edu 37 3 183520275 183520276 + RNA INS - - TG TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 3 183520275 183520276 - TG INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 70_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000228214 0 genome.wustl.edu 37 3 28616706 28616706 + RNA SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 3 28616706 28616706 G C SNP ENSG00000228214 ENST00000432518 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors AC109586.1 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143210344 143210344 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 143210344 143210344 G A SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors BX571672.2 Clone_based_vega_gene GIPR 2696 genome.wustl.edu 37 19 46174549 46174549 + Missense_Mutation SNP C C A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 46174549 46174549 C A SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.179 p.A60D 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC GREB1L 80000 genome.wustl.edu 37 18 19093834 19093834 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 18 19093834 19093834 G C SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.4788 p.E1596D 1.000 NULL NULL - no_errors GREB1L HGNC HAPLN3 145864 genome.wustl.edu 37 15 89421436 89421436 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 89421436 89421436 C T SNP HAPLN3 ENST00000359595 human ensembl 70_37 -1 known missense c.848 p.R283K 0.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN3 HGNC HIF3A 64344 genome.wustl.edu 37 19 46807342 46807342 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 46807342 46807342 G A SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.214 p.A72T 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC IDH3G 3421 genome.wustl.edu 37 X 153055288 153055288 + RNA SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 153055288 153055288 C T SNP IDH3G ENST00000479521 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IDH3G HGNC IQGAP1 8826 genome.wustl.edu 37 15 90996413 90996413 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 90996413 90996413 C T SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.1376 p.S459L 0.937 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ITGAE 3682 genome.wustl.edu 37 17 3655127 3655127 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 3655127 3655127 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1710 p.P570 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC KIAA0195 9772 genome.wustl.edu 37 17 73491058 73491058 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 73491058 73491058 G A SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known missense c.2671 p.E891K 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC LOC101060615 101060615 genome.wustl.edu 37 22 16157762 16157762 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 22 16157762 16157762 C T SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known silent c.177 p.P59 0.154 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene LOC652276 652276 genome.wustl.edu 37 16 2653460 2653460 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 16 2653460 2653460 G A SNP LOC652276 ENST00000399702 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC141586.5 Clone_based_vega_gene MAPKAPK2 9261 genome.wustl.edu 37 1 206904595 206904595 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 206904595 206904595 G A SNP MAPKAPK2 ENST00000367103 human ensembl 70_37 +1 known missense c.880 p.V294I 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK2 HGNC MICAL1 64780 genome.wustl.edu 37 6 109769091 109769091 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 109769091 109769091 C T SNP MICAL1 ENST00000368952 human ensembl 70_37 -1 known missense c.1988 p.R663Q 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC MTERFD2 130916 genome.wustl.edu 37 2 242038897 242038897 + Missense_Mutation SNP A A G TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 2 242038897 242038897 A G SNP MTERFD2 ENST00000241527 human ensembl 70_37 -1 known missense c.434 p.L145S 0.399 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC NEUROD1 4760 genome.wustl.edu 37 2 182543231 182543231 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 2 182543231 182543231 C T SNP NEUROD1 ENST00000295108 human ensembl 70_37 -1 known silent c.357 p.A119 0.082 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD1 HGNC NRP1 8829 genome.wustl.edu 37 10 33559709 33559709 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 33559709 33559709 G A SNP NRP1 ENST00000265371 human ensembl 70_37 -1 known silent c.324 p.A108 0.925 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP1 HGNC OGDHL 55753 genome.wustl.edu 37 10 50966441 50966441 + Silent SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 50966441 50966441 G T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known silent c.198 p.V66 0.896 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC P2RX7 5027 genome.wustl.edu 37 12 121622293 121622293 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 121622293 121622293 G A SNP P2RX7 ENST00000546057 human ensembl 70_37 +1 known silent c.1476 p.R492 0.000 NULL pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC P2RY4 5030 genome.wustl.edu 37 X 69478492 69478492 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 69478492 69478492 G A SNP P2RY4 ENST00000374519 human ensembl 70_37 -1 known missense c.983 p.P328L 0.001 prints_P2Y4_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor - no_errors P2RY4 HGNC PCDHB13 56123 genome.wustl.edu 37 5 140595593 140595593 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 140595593 140595593 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known missense c.1898 p.R633H 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC PCED1B 91523 genome.wustl.edu 37 12 47629036 47629036 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 47629036 47629036 G C SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.190 p.G64R 0.989 superfamily_Esterase_SGNH_hydro-type superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC PDZD4 57595 genome.wustl.edu 37 X 153069983 153069983 + Silent SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 153069983 153069983 G T SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known silent c.1135 p.R379 0.021 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC PIGR 5284 genome.wustl.edu 37 1 207112633 207112633 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 207112633 207112633 G A SNP PIGR ENST00000356495 human ensembl 70_37 -1 known silent c.219 p.Y73 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PIGR HGNC PIK3AP1 118788 genome.wustl.edu 37 10 98408502 98408502 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 10 98408502 98408502 C T SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.1099 p.V367M 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC PKN2 5586 genome.wustl.edu 37 1 89287654 89287654 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 89287654 89287654 G T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.2310 p.L770F 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC QSOX2 169714 genome.wustl.edu 37 9 139108447 139108447 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 9 139108447 139108447 C T SNP QSOX2 ENST00000358701 human ensembl 70_37 -1 known missense c.1208 p.R403Q 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC RAPGEF1 2889 genome.wustl.edu 37 9 134501771 134501771 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 9 134501771 134501771 G A SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.1243 p.L415F 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC RILPL1 353116 genome.wustl.edu 37 12 123957223 123957223 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 123957223 123957223 G T SNP RILPL1 ENST00000376874 human ensembl 70_37 -1 known missense c.1074 p.S358R 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC RYR3 6263 genome.wustl.edu 37 15 34112005 34112005 + Silent SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 34112005 34112005 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.10755 p.A3585 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SERBP1 26135 genome.wustl.edu 37 1 67885742 67885742 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 1 67885742 67885742 C T SNP SERBP1 ENST00000370995 human ensembl 70_37 -1 known missense c.946 p.D316N 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC SFSWAP 6433 genome.wustl.edu 37 12 132239001 132239001 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 12 132239001 132239001 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1411 p.G471S 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SLC28A2 9153 genome.wustl.edu 37 15 45559935 45559935 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 15 45559935 45559935 G A SNP SLC28A2 ENST00000347644 human ensembl 70_37 +1 known silent c.1140 p.A380 0.328 pfam_Nucleos_tra2_C,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 SLFN5 162394 genome.wustl.edu 37 17 33592730 33592730 + Silent SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 33592730 33592730 G A SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known silent c.2499 p.S833 0.003 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC SNORA10 574042 genome.wustl.edu 37 16 2012342 2012342 + RNA SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 16 2012342 2012342 G A SNP SNORA10 ENST00000384084 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORA10 HGNC SNX18 112574 genome.wustl.edu 37 5 53815615 53815615 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 5 53815615 53815615 G T SNP SNX18 ENST00000326277 human ensembl 70_37 +1 known missense c.1833 p.E611D 0.002 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC TMEM143 55260 genome.wustl.edu 37 19 48836562 48836562 + Missense_Mutation SNP G G A TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 19 48836562 48836562 G A SNP TMEM143 ENST00000293261 human ensembl 70_37 -1 known missense c.1294 p.P432S 0.960 NULL pfam_DUF3754 - no_errors TMEM143 HGNC TTLL6 284076 genome.wustl.edu 37 17 46846573 46846573 + Missense_Mutation SNP G G T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 17 46846573 46846573 G T SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.2454 p.S818R 0.822 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC UBQLN2 29978 genome.wustl.edu 37 X 56590601 56590601 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 X 56590601 56590601 C T SNP UBQLN2 ENST00000338222 human ensembl 70_37 +1 known missense c.295 p.H99Y 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ZC3H13 23091 genome.wustl.edu 37 13 46549845 46549845 + Missense_Mutation SNP G G C TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 13 46549845 46549845 G C SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2041 p.R681G 0.987 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZNF318 24149 genome.wustl.edu 37 6 43309879 43309879 + Missense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 6 43309879 43309879 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.3347 p.R1116H 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF804B 219578 genome.wustl.edu 37 7 88964910 88964910 + Nonsense_Mutation SNP C C T TCGA-JX-A5QV-01A-22D-A28B-09 TCGA-JX-A5QV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 915825bd-5ffc-4cca-a0c0-5ce6809dad1b 2d5c7dac-d0d8-4618-96cf-993ef74fc7e9 7 88964910 88964910 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.2614 p.Q872* 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC