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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high CXorf56 63932 broad.mit.edu 37 X 118678401 118678405 + Frame_Shift_Del DEL AAGGT AAGGT - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:118678401_118678405delAAGGT ENST00000371594.4 - 4 412_416 c.334_338delACCTT c.(334-339)accttcfs p.TF112fs CXorf56_ENST00000469448.1_5'Flank|CXorf56_ENST00000320339.4_Frame_Shift_Del_p.TF63fs|CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs NM_022101.3 NP_071384.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 10 ATCCACAATGAAGGTAACAGGAGCA 0.444000 0 SO:0001589 frameshift_variant ENST00000371594.4 1 1 hg19 CCDS14579.1 TCGA-3A-A9IC-01A-11D-A38G-08 CXorf56-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 0 0 0 15 839 0 314 0 3.251207e-02 0 15 0 314 2 0 0 0 0 1 0.002627 52 852 8 316 37 0 0 0 0 0 0 -3.325553 1 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.090000 4.000000e-02 0.150000 0.100000 0.100816 0.090000 0 6.000000e-02 1.300000e-01 ANKRD30A 91074 broad.mit.edu 37 10 37478443 37478443 + Missense_Mutation SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr10:37478443A>G ENST00000602533.1 + 25 2401 c.2302A>G c.(2302-2304)Acg>Gcg p.T768A ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A p.T768A(2) 158 ACCCAAGGCTACGCATCAAAA 0.289000 2 Substitution - Missense(2) SO:0001583 missense ENST00000602533.1 0 1 hg19 . . . . . . . . . . . 2.496 -0.316242 0.05422 . . ENSG00000148513 ENST00000361713;ENST00000374660 T;T 0.06068 3.35;3.35 0.746 -1.49 0.08718 . . . . . T 0.08447 0.0210 L 0.46157 1.445 0.09310 N 1 P 0.40332 0.713 P 0.48654 0.585 T 0.28235 -1.0050 9 0.31617 T 0.26 . 4.1534 0.10249 0.4946:0.0:0.5054:0.0 . 824 Q9BXX3 AN30A_HUMAN A 768;887 ENSP00000354432:T768A;ENSP00000363792:T887A ENSP00000354432:T768A T + 1 0 ANKRD30A 37518449 0.001000 0.12720 0.002000 0.10522 0.002000 0.02628 -0.108000 0.10857 -0.775000 0.04584 -0.537000 0.04273 ACG TCGA-3A-A9IC-01A-11D-A38G-08 ANKRD30A-001 KNOWN NMD_exception|basic|appris_principal protein_coding protein_coding OTTHUMT00000047588.2 0 0 0 5 294 1 164 0 0 0 1 164 2 0 0 0 0 0 2 1 0.154868 5 60 1 190 3 0 0 0 1 164 2 -2.828683 1 1 28116 67 39 1 0.370000 1.800000 0 0 OR10S1 219873 broad.mit.edu 37 11 123847671 123847671 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:123847671C>T ENST00000531945.1 - 1 817 c.728G>A c.(727-729)cGc>cAc p.R243H NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 p.R243H(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) CTGGGCTGTGCGGATGCGCAA 0.602000 1 Substitution - Missense(1) SO:0001583 missense ENST00000531945.1 0 1 hg19 CCDS31701.1 . . . . . . . . . . C 0.664 -0.804634 0.02819 . . ENSG00000196248 ENST00000531945 T 0.39229 1.09 4.85 0.979 0.19745 GPCR, rhodopsin-like superfamily (1); 0.000000 0.42682 U 0.000680 T 0.19406 0.0466 N 0.17838 0.53 0.09310 N 1 B 0.11235 0.004 B 0.08055 0.003 T 0.09729 -1.0661 10 0.20519 T 0.43 -8.8926 1.6508 0.02771 0.1318:0.368:0.1283:0.3719 . 243 Q8NGN2 O10S1_HUMAN H 243 ENSP00000431914:R243H ENSP00000431914:R243H R - 2 0 OR10S1 123352881 0.000000 0.05858 0.043000 0.18650 0.001000 0.01503 -2.583000 0.00904 0.028000 0.15324 -0.782000 0.03352 CGC TCGA-3A-A9IC-01A-11D-A38G-08 OR10S1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387265.2 0 0 0 5 249 0 93 0 0 0 0 93 2 0 0 0 0 0 2 1 0.934158 5 243 0 89 2 0 0 0 0 93 2 -2.698636 1 1 121410 5 38 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.110000 3.000000e-02 0.230000 0.100000 0.125370 0.110000 0 7.000000e-02 1.700000e-01 PRDM11 56981 broad.mit.edu 37 11 45246046 45246046 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:45246046G>A ENST00000530656.1 + 7 1123 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T|PRDM11_ENST00000263765.4_Missense_Mutation_p.A375T Q9NQV5 PRD11_HUMAN PR domain containing 11 26 CCAGGATGACGCCTACAGTCA 0.577000 NSCLC(118;1511 1736 6472 36603 43224) 0 SO:0001583 missense ENST00000530656.1 1 1 hg19 . . . . . . . . . . G 7.057 0.565572 0.13560 . . ENSG00000019485 ENST00000263765;ENST00000530656;ENST00000424263 T;T;T 0.23950 1.88;1.88;1.89 5.41 1.86 0.25419 . 0.907108 0.09408 N 0.806162 T 0.13030 0.0316 N 0.08118 0 0.09310 N 1 B 0.13594 0.008 B 0.08055 0.003 T 0.33904 -0.9850 10 0.26408 T 0.33 -5.4388 9.0019 0.36088 0.4604:0.0:0.5395:0.0 . 375 Q9NQV5 PRD11_HUMAN T 375;375;341 ENSP00000263765:A375T;ENSP00000435976:A375T;ENSP00000394314:A341T ENSP00000263765:A375T A + 1 0 PRDM11 45202622 0.000000 0.05858 0.102000 0.21198 0.199000 0.23934 0.211000 0.17474 0.187000 0.20147 0.558000 0.71614 GCC TCGA-3A-A9IC-01A-11D-A38G-08 PRDM11-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000389928.1 1 0 1 127 555 0 207 0 0 0 1 0 207 2 0 0 0 0 0 2 1 1.000000 126 546 0 202 2 0 0 0 0 207 2 -20.000000 1 1 0 0 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.990000 8.400000e-01 1.000000 1.000000 0.970539 0.990000 1 9.100000e-01 1 TMX2 51075 broad.mit.edu 37 11 57506679 57506679 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:57506679C>T ENST00000278422.4 + 7 703 c.691C>T c.(691-693)Cgg>Tgg p.R231W C11orf31_ENST00000534355.1_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.R193W NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 12 GGAGGCAATGCGGCGGCCACA 0.547000 0 SO:0001583 missense ENST00000278422.4 0 1 hg19 CCDS7967.1 . . . . . . . . . . C 19.30 3.802031 0.70682 . . ENSG00000213593 ENST00000378312;ENST00000278422 T;T 0.28666 1.6;1.6 5.49 4.55 0.56014 Thioredoxin-like fold (3); 0.067156 0.56097 U 0.000038 T 0.62245 0.2412 M 0.91354 3.2 0.80722 D 1 P;D 0.89917 0.927;1.0 P;D 0.97110 0.504;1.0 T 0.70288 -0.4913 9 . . . -13.4074 13.1262 0.59356 0.2872:0.7128:0.0:0.0 . 193;231 Q9Y320-2;Q9Y320 .;TMX2_HUMAN W 193;231 ENSP00000367562:R193W;ENSP00000278422:R231W . R + 1 2 TMX2 57263255 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 3.049000 0.49869 2.583000 0.87209 0.561000 0.74099 CGG TCGA-3A-A9IC-01A-11D-A38G-08 TMX2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393708.1 0 0 0 6 554 0 170 0 6.917176e-01 0 212 0 170 2 0 0 0 0 0 2 1 0.961654 6 537 0 164 2 0 0 0 0 170 2 -2.006247 0 1 121412 2 36 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.050000 1.000000e-02 0.120000 0.060000 0.066898 0.050000 0 3.000000e-02 9.000000e-02 CD6 923 broad.mit.edu 37 11 60777109 60777109 + Nonsense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:60777109C>T ENST00000313421.7 + 5 1033 c.847C>T c.(847-849)Cga>Tga p.R283* CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 18 GGTACACTTCCGAGGGGTCTG 0.642000 Pancreas(169;904 2017 4767 38890 42505) 0 SO:0001587 stop_gained ENST00000313421.7 0 1 hg19 CCDS7999.1 . . . . . . . . . . C 34 5.312432 0.95655 . . ENSG00000013725 ENST00000344028;ENST00000346437;ENST00000313421;ENST00000452451;ENST00000352009 . . . 4.76 4.76 0.60689 . 0.215583 0.30210 N 0.010146 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 18.3344 0.90282 0.0:1.0:0.0:0.0 . . . . X 283 . ENSP00000323280:R283X R + 1 2 CD6 60533685 0.000000 0.05858 0.954000 0.39281 0.729000 0.41735 0.300000 0.19156 2.575000 0.86900 0.555000 0.69702 CGA TCGA-3A-A9IC-01A-11D-A38G-08 CD6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396449.1 0 0 0 5 207 0 90 0 8.473045e-03 0 5 0 90 2 0 0 0 0 0 2 1 0.932625 5 200 0 90 2 0 0 0 0 90 2 -3.037441 1 1 121410 5 36 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.130000 4.000000e-02 0.280000 0.130000 0.149774 0.130000 0 8.000000e-02 2.100000e-01 SMPD1 6609 broad.mit.edu 37 11 6413007 6413007 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:6413007G>A ENST00000342245.4 + 2 880 c.712G>A c.(712-714)Gca>Aca p.A238T SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151) CCTGCCGCCCGCATCCCGGCC 0.672000 0 SO:0001583 missense ENST00000342245.4 0 1 hg19 CCDS44531.1 . . . . . . . . . . G 0.097 -1.158173 0.01686 . . ENSG00000166311 ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275 T;T;T;T 0.10288 2.9;2.91;2.89;2.9 5.15 -1.88 0.07713 Metallophosphoesterase domain (1); 1.029790 0.07657 N 0.932959 T 0.04907 0.0132 N 0.17800 0.525 0.09310 N 1 B;B;B 0.15141 0.007;0.012;0.009 B;B;B 0.09377 0.003;0.004;0.004 T 0.45264 -0.9273 10 0.11182 T 0.66 -34.8036 1.7151 0.02900 0.4933:0.1325:0.2251:0.1491 . 237;238;236 E9PKS3;G3XAB5;P17405 .;.;ASM_HUMAN T 238;238;238;237 ENSP00000299397:A238T;ENSP00000349203:A238T;ENSP00000340409:A238T;ENSP00000435350:A237T ENSP00000299397:A238T A + 1 0 SMPD1 6369583 0.000000 0.05858 0.008000 0.14137 0.007000 0.05969 -1.087000 0.03383 0.025000 0.15241 -0.345000 0.07892 GCA TCGA-3A-A9IC-01A-11D-A38G-08 SMPD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000384205.1 0 0 0 5 280 0 129 0 3.694428e-01 0 63 0 129 2 0 0 0 0 0 2 1 0.933299 5 272 0 129 2 0 0 0 0 129 2 -2.317662 0 1 121370 2 32 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.100000 3.000000e-02 0.210000 0.100000 0.111911 0.100000 0 6.000000e-02 1.500000e-01 SLC22A11 55867 broad.mit.edu 37 11 64329557 64329557 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:64329557C>A ENST00000301891.4 + 3 953 c.579C>A c.(577-579)ttC>ttA p.F193L SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 23 Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495) CCCCAACATTCGTCATCTACT 0.617000 OREG0004030 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 SO:0001583 missense ENST00000301891.4 1 1 hg19 CCDS8074.1 . . . . . . . . . . . 10.68 1.419179 0.25552 . . ENSG00000168065 ENST00000301891;ENST00000377585;ENST00000377581 T;T;T 0.58358 0.34;0.34;0.34 3.29 1.38 0.22167 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.058354 0.64402 N 0.000002 T 0.47303 0.1438 L 0.45422 1.42 0.09310 N 1 P;P;P 0.51933 0.949;0.484;0.861 P;B;B 0.49140 0.601;0.315;0.446 T 0.36817 -0.9732 10 0.45353 T 0.12 . 8.0924 0.30807 0.0:0.7887:0.0:0.2113 . 193;193;193 Q9NSA0-2;A6NCG2;Q9NSA0 .;.;S22AB_HUMAN L 193 ENSP00000301891:F193L;ENSP00000366809:F193L;ENSP00000366804:F193L ENSP00000301891:F193L F + 3 2 SLC22A11 64086133 0.056000 0.20664 0.001000 0.08648 0.000000 0.00434 0.659000 0.24994 0.214000 0.20742 -1.547000 0.00903 TTC TCGA-3A-A9IC-01A-11D-A38G-08 SLC22A11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000104886.4 1 0 1 57 230 0 112 0 0 0 0 112 2 0 0 0 0 0 2 1 1.000000 55 225 0 108 2 0 0 0 0 112 2 -20.000000 1 1 121408 1 34 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.990000 8.300000e-01 1.000000 1.000000 0.979147 0.990000 1 9.400000e-01 1 CTTN 2017 broad.mit.edu 37 11 70281225 70281225 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:70281225G>A ENST00000301843.8 + 18 1816 c.1610G>A c.(1609-1611)cGg>cAg p.R537Q CTTN_ENST00000376561.3_Splice_Site_p.R500H|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q|CTTN_ENST00000538675.1_Splice_Site_p.R221H NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) TGCAAGGGCCGGTACGGGCTC 0.627000 0 SO:0001583 missense ENST00000301843.8 0 1 hg19 CCDS41680.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.74|16.74 3.205660|3.205660 0.58234|0.58234 .|. .|. ENSG00000085733|ENSG00000085733 ENST00000376561;ENST00000538675;ENST00000529736|ENST00000346329;ENST00000301843 T;T;T|T;T 0.50813|0.50277 0.73;0.73;0.73|0.75;0.75 5.82|5.82 3.95|3.95 0.45737|0.45737 .|Src homology-3 domain (5); 1.245650|1.245650 0.05460|0.05460 N|N 0.551019|0.551019 T|T 0.42471|0.42471 0.1204|0.1204 L|L 0.31526|0.31526 0.94|0.94 0.09310|0.09310 N|N 0.999994|0.999994 D;D|P;P 0.89917|0.49961 1.0;0.977|0.754;0.93 D;P|B;B 0.87578|0.44108 0.998;0.616|0.319;0.441 T|T 0.28933|0.28933 -1.0028|-1.0028 10|10 0.11794|0.29301 T|T 0.64|0.29 -8.3826|-8.3826 11.1574|11.1574 0.48495|0.48495 0.0662:0.0:0.8053:0.1285|0.0662:0.0:0.8053:0.1285 .|. 221;500|500;537 B4E358;Q8N707|Q96H99;Q14247 .;.|.;SRC8_HUMAN H|Q 500;221;194|500;537 ENSP00000365745:R500H;ENSP00000439762:R221H;ENSP00000431421:R194H|ENSP00000317189:R500Q;ENSP00000301843:R537Q ENSP00000365745:R500H|ENSP00000301843:R537Q R|R +|+ 2|2 0|0 CTTN|CTTN 69958873|69958873 0.727000|0.727000 0.28069|0.28069 0.902000|0.902000 0.35471|0.35471 0.332000|0.332000 0.28634|0.28634 3.921000|3.921000 0.56454|0.56454 0.794000|0.794000 0.33899|0.33899 0.655000|0.655000 0.94253|0.94253 CGC|CGG TCGA-3A-A9IC-01A-11D-A38G-08 CTTN-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259233.2 0 0 1 10 287 0 99 1 9.997816e-01 52 415 0 99 2 0 0 0 0 0 2 1 0.996687 10 281 0 96 2 0 0 0 0 99 2 -3.163455 1 1 121412 2 32 1 0 0 0 2.065711 0 0.370000 1.800000 0.367660 0.180000 9.000000e-02 0.320000 0.180000 0.196983 0.180000 0 1.300000e-01 2.500000e-01 BTBD11 121551 broad.mit.edu 37 12 108045502 108045502 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:108045502G>A ENST00000280758.5 + 16 3571 c.3043G>A c.(3043-3045)Gag>Aag p.E1015K BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 53 GCGACACTGTGAGATTATCTG 0.463000 0 SO:0001583 missense ENST00000280758.5 0 1 hg19 CCDS31893.1 . . . . . . . . . . G 34 5.370428 0.95900 . . ENSG00000151136 ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235 T;T;T;T 0.70986 -0.53;-0.53;-0.53;-0.53 5.14 5.14 0.70334 BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2); 0.000000 0.85682 D 0.000000 D 0.86619 0.5976 M 0.87758 2.905 0.80722 D 1 D;D 0.69078 0.979;0.997 D;D 0.79108 0.982;0.992 D 0.88887 0.3343 10 0.87932 D 0 . 18.948 0.92628 0.0:0.0:1.0:0.0 . 552;1015 E9PHS4;A6QL63 .;BTBDB_HUMAN K 1015;896;552;94 ENSP00000280758:E1015K;ENSP00000413889:E896K;ENSP00000349690:E552K;ENSP00000448322:E94K ENSP00000280758:E1015K E + 1 0 BTBD11 106569632 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.258000 0.95555 2.535000 0.85469 0.655000 0.94253 GAG TCGA-3A-A9IC-01A-11D-A38G-08 BTBD11-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318003.1 0 0 0 5 158 0 71 0 1.515042e-03 0 2 0 71 2 0 0 0 0 0 2 1 0.938513 5 158 0 71 2 0 0 0 0 71 2 -3.276163 1 1 0 0 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.200000 7.000000e-02 1.000000 0.160000 0.373891 0.200000 0 1.200000e-01 1 CIT 11113 broad.mit.edu 37 12 120198768 120198768 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:120198768C>T ENST00000261833.7 - 19 2322 c.2270G>A c.(2269-2271)gGc>gAc p.G757D CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.G799D NM_007174.2 NP_009105.1 O14578 CTRO_HUMAN citron rho-interacting serine/threonine kinase 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) GAGAATTTTGCCCTTCTCATG 0.468000 0 SO:0001583 missense ENST00000261833.7 0 1 hg19 CCDS9192.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 16.41|16.41 3.115986|3.115986 0.56505|0.56505 .|. .|. ENSG00000122966|ENSG00000122966 ENST00000392520|ENST00000392521;ENST00000261833 .|T;T .|0.63580 .|-0.05;-0.0 6.17|6.17 6.17|6.17 0.99709|0.99709 .|. .|0.238217 .|0.43110 .|D .|0.000601 T|T 0.43411|0.43411 0.1246|0.1246 N|N 0.14661|0.14661 0.345|0.345 0.38369|0.38369 D|D 0.944814|0.944814 .|B;B;B .|0.26845 .|0.03;0.03;0.161 .|B;B;B .|0.23852 .|0.022;0.022;0.049 T|T 0.42816|0.42816 -0.9429|-0.9429 5|10 .|0.14252 .|T .|0.57 .|. 13.9957|13.9957 0.64397|0.64397 0.0:0.9315:0.0:0.0685|0.0:0.9315:0.0:0.0685 .|. .|799;757;290 .|Q2M5E1;O14578;O14578-3 .|.;CTRO_HUMAN;. T|D 385|799;757 .|ENSP00000376306:G799D;ENSP00000261833:G757D .|ENSP00000261833:G757D A|G -|- 1|2 0|0 CIT|CIT 118683151|118683151 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 3.928000|3.928000 0.56506|0.56506 2.941000|2.941000 0.99782|0.99782 0.655000|0.655000 0.94253|0.94253 GCA|GGC TCGA-3A-A9IC-01A-11D-A38G-08 CIT-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000259410.4 0 0 0 7 529 1 230 0 2.482913e-04 0 2 1 230 2 0 0 0 0 0 2 0 0.290901 7 514 1 221 10 0 0 0 1 230 2 -1.778499 0 1 0 0 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.080000 2.000000e-02 1.000000 0.070000 0.284976 0.080000 0 5.000000e-02 1 CIT 11113 broad.mit.edu 37 12 120271946 120271946 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:120271946G>A ENST00000261833.7 - 6 655 c.603C>T c.(601-603)taC>taT p.Y201Y CIT_ENST00000392521.2_Silent_p.Y201Y NM_007174.2 NP_009105.1 O14578 CTRO_HUMAN citron rho-interacting serine/threonine kinase 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) GCTCAGCTAGGTAAAACTGTA 0.438000 0 SO:0001819 synonymous_variant ENST00000261833.7 0 1 hg19 CCDS9192.1 TCGA-3A-A9IC-01A-11D-A38G-08 CIT-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000259410.4 0 0 0 5 278 0 98 0 0 0 1 0 98 2 0 0 0 0 0 2 1 0.933893 5 271 0 96 2 0 0 0 0 98 2 -5.965810 1 1 0 0 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.110000 3.000000e-02 1.000000 0.100000 0.310616 0.110000 0 6.000000e-02 1 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 28.6 4.930538 0.92389 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.80722 D 1 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-3A-A9IC-01A-11D-A38G-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 48 216 0 101 1 6.716996e-01 6 6 0 101 2 1 1 40 255 0 208 2 1 1.000000 48 211 0 100 2 1 1 2177 5834 0 101 2 -20.000000 1 1 0 0 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.990000 7.500000e-01 1.000000 1.000000 0.956071 0.990000 1 8.700000e-01 1 KRT78 196374 broad.mit.edu 37 12 53233575 53233575 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:53233575C>T ENST00000304620.4 - 7 1304 c.1241G>A c.(1240-1242)cGc>cAc p.R414H KRT78_ENST00000359499.4_Missense_Mutation_p.R304H NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 18 CAGCAGCCTGCGGTAAGTGGC 0.607000 0 SO:0001583 missense ENST00000304620.4 0 1 hg19 CCDS8840.1 . . . . . . . . . . C 15.34 2.803941 0.50315 0.0 1.16E-4 ENSG00000170423 ENST00000359499;ENST00000304620;ENST00000539860 D;D 0.94687 -3.49;-3.49 3.89 2.98 0.34508 Filament (1);Intermediate filament protein, conserved site (1); . . . . D 0.95043 0.8395 M 0.92833 3.35 0.27025 N 0.964374 B 0.31459 0.324 B 0.28465 0.09 D 0.91031 0.4864 9 0.72032 D 0.01 . 12.4504 0.55675 0.0:0.8293:0.1707:0.0 . 414 Q8N1N4 K2C78_HUMAN H 304;414;185 ENSP00000352479:R304H;ENSP00000306261:R414H ENSP00000306261:R414H R - 2 0 KRT78 51519842 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 1.883000 0.39658 0.966000 0.38159 -0.502000 0.04539 CGC TCGA-3A-A9IC-01A-11D-A38G-08 KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406380.1 0 0 0 6 210 0 103 0 0 0 0 103 2 0 0 0 0 0 2 1 0.963010 5 206 0 98 2 0 0 0 0 103 2 -3.022913 1 1 121412 6 39 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.180000 6.000000e-02 1.000000 0.150000 0.356546 0.180000 0 1.100000e-01 1 CRADD 8738 broad.mit.edu 37 12 94244044 94244044 + Silent SNP G G A rs116316289 byFrequency TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:94244044G>A ENST00000542893.2 + 3 915 c.597G>A c.(595-597)gaG>gaA p.E199E CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000541813.1_Intron P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 8 ACATGTTGGAGTGATGGTGCC 0.597000 0 SO:0001819 synonymous_variant ENST00000542893.2 0 1 hg19 CCDS9048.1 TCGA-3A-A9IC-01A-11D-A38G-08 CRADD-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408515.1 0 0 0 6 158 0 74 0 2.241783e-01 0 21 0 74 2 0 0 0 0 0 2 1 0.963826 6 155 0 72 2 0 0 0 0 74 2 -8.716142 1 1 121056 73 48 1 0 2 2 1.928827 1 0.370000 1.800000 0.370000 0.240000 9.000000e-02 1.000000 0.200000 0.398040 0.240000 0 1.500000e-01 1 LPAR6 10161 broad.mit.edu 37 13 48986341 48986341 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:48986341C>T ENST00000378434.4 - 7 1843 c.219G>A c.(217-219)agG>agA p.R73R RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 p.0?(15)|p.?(4) 14 AGTAAAAAATCCTGAAGGGTA 0.358000 19 Whole gene deletion(15)|Unknown(4) SO:0001819 synonymous_variant ENST00000378434.4 1 1 hg19 CCDS9410.1 TCGA-3A-A9IC-01A-11D-A38G-08 LPAR6-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276280.2 1 0 0 40 140 0 59 1 9.999257e-01 8 47 0 59 2 0 0 0 0 0 2 1 1.000000 39 138 0 59 2 0 0 0 0 59 2 -20.000000 1 1 0 0 1 0.370000 1.800000 0 0 PCDH17 27253 broad.mit.edu 37 13 58208067 58208067 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:58208067C>G ENST00000377918.3 + 1 1413 c.1387C>G c.(1387-1389)Cta>Gta p.L463V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GATCAAGATTCTAGACGAGAA 0.602000 Melanoma(72;952 1291 1619 12849 33676) 0 SO:0001583 missense ENST00000377918.3 0 1 hg19 CCDS31986.1 . . . . . . . . . . C 15.41 2.824594 0.50739 . . ENSG00000118946 ENST00000377918 T 0.55588 0.51 5.58 4.74 0.60224 Cadherin (5);Cadherin conserved site (1);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.58764 0.2145 L 0.45470 1.425 0.48452 D 0.999652 P;P 0.50819 0.925;0.939 P;P 0.57720 0.734;0.826 T 0.56637 -0.7946 9 . . . . 10.6669 0.45736 0.0:0.854:0.0:0.146 . 463;463 O14917-2;O14917 .;PCD17_HUMAN V 463 ENSP00000367151:L463V . L + 1 2 PCDH17 57106068 1.000000 0.71417 0.993000 0.49108 0.975000 0.68041 2.537000 0.45702 1.378000 0.46305 0.561000 0.74099 CTA TCGA-3A-A9IC-01A-11D-A38G-08 PCDH17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045139.1 0 0 0 4 115 0 85 0 5.629746e-02 0 9 0 85 2 0 0 0 0 0 2 1 0.881269 4 110 0 85 2 0 0 0 0 85 2 -7.016980 1 1 0 0 1 0 1 1 1.745433 1 0.370000 1.800000 0.226994 0.160000 5.000000e-02 0.340000 0.140000 0.176869 0.160000 0 9.000000e-02 2.500000e-01 DOCK9 23348 broad.mit.edu 37 13 99567729 99567729 + Missense_Mutation SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:99567729T>C ENST00000376460.1 - 8 826 c.746A>G c.(745-747)gAg>gGg p.E249G DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATCTTGAGCTCAAAAGCAAA 0.353000 0 SO:0001583 missense ENST00000376460.1 1 1 hg19 CCDS45062.1 . . . . . . . . . . T 24.9 4.584483 0.86748 . . ENSG00000088387 ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173 T;T;T;T 0.77229 -1.08;-1.08;-1.08;-1.08 4.83 4.83 0.62350 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.000000 0.85682 D 0.000000 D 0.89336 0.6686 M 0.88979 2.995 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;0.985;1.0 D;D;D;D;D 0.97110 1.0;1.0;1.0;0.982;1.0 D 0.91171 0.4968 9 . . . . 14.4179 0.67163 0.0:0.0:0.0:1.0 . 250;249;249;249;250 A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29 .;.;.;.;DOCK9_HUMAN G 249;250;250;250;249;250;261;249 ENSP00000365643:E249G;ENSP00000341086:E250G;ENSP00000401958:E261G;ENSP00000406883:E249G . E - 2 0 DOCK9 98365730 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 7.580000 0.82523 1.824000 0.53156 0.533000 0.62120 GAG TCGA-3A-A9IC-01A-11D-A38G-08 DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045566.1 0 0 0 5 106 0 37 0 1.780051e-02 1 3 0 37 2 0 0 0 0 0 2 1 0.934448 5 103 0 37 2 0 0 0 0 37 2 -4.137888 1 1 0 0 1 0 1 1 1.745433 1 0.370000 1.800000 0.226994 0.200000 7.000000e-02 0.410000 0.190000 0.226798 0.200000 0 1.300000e-01 3.100000e-01 ATP10A 57194 broad.mit.edu 37 15 25940081 25940081 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr15:25940081G>A ENST00000356865.6 - 14 3084 c.2973C>T c.(2971-2973)ttC>ttT p.F991F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) CAAGGAAGAGGAATTTGTCCT 0.617000 0 SO:0001819 synonymous_variant ENST00000356865.6 1 1 hg19 CCDS32178.1 TCGA-3A-A9IC-01A-11D-A38G-08 ATP10A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414830.1 1 0 1 38 204 0 83 0 9.894427e-01 0 41 0 83 2 0 0 0 0 0 2 1 0.999969 38 197 1 80 12 0 0 0 0 83 2 -20.000000 1 1 0 0 1 1 2 3 2.096574 0 0.370000 1.800000 0.372322 0.850000 6.200000e-01 1.000000 1.000000 0.852811 0.850000 1 7.300000e-01 9.900000e-01 TPSD1 23430 broad.mit.edu 37 16 1306874 1306874 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:1306874G>A ENST00000211076.3 + 3 479 c.331G>A c.(331-333)Gtc>Atc p.V111I RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 20 Hepatocellular(780;0.00369) GCTGCTGCCGGTCAGCAGGAT 0.627000 0 SO:0001583 missense ENST00000211076.3 1 1 hg19 CCDS10432.1 . . . . . . . . . . g 10.11 1.259525 0.23051 . . ENSG00000095917 ENST00000397534;ENST00000211076 D;D 0.84298 -1.83;-1.83 2.55 -2.96 0.05547 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 1.262880 0.05827 N 0.616806 T 0.79822 0.4512 L 0.55990 1.75 0.09310 N 1 B;B 0.20459 0.008;0.045 B;B 0.26614 0.071;0.071 T 0.62530 -0.6835 10 0.44086 T 0.13 . 4.467 0.11694 0.3246:0.1675:0.508:0.0 . 95;111 C9JJL5;Q9BZJ3 .;TRYD_HUMAN I 104;111 ENSP00000380668:V104I;ENSP00000211076:V111I ENSP00000211076:V111I V + 1 0 TPSD1 1246875 0.000000 0.05858 0.008000 0.14137 0.135000 0.20990 -1.596000 0.02091 -0.864000 0.04078 0.185000 0.17295 GTC TCGA-3A-A9IC-01A-11D-A38G-08 TPSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250320.2 1 0 1 51 172 0 98 0 8.852890e-01 0 15 0 98 2 0 0 0 0 0 2 1 1.000000 47 155 0 102 2 0 0 0 0 98 2 -20.000000 1 1 0 0 1 1 3 4 2.499549 1 0.370000 1.800000 0.478131 0.990000 9.900000e-01 1.000000 1.000000 0.999955 0.990000 1 9.900000e-01 1 SLC6A2 6530 broad.mit.edu 37 16 55730216 55730216 + Silent SNP C C T rs149035289 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:55730216C>T ENST00000379906.2 + 8 1482 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 41 Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285) TTGTGTTTTTCGTCATGCTCC 0.542000 0 SO:0001819 synonymous_variant ENST00000379906.2 1 1 hg19 CCDS10754.1 TCGA-3A-A9IC-01A-11D-A38G-08 SLC6A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256922.2 1 0 0 130 530 0 225 0 0 0 0 225 2 0 0 0 0 0 2 1 1.000000 130 522 0 213 2 0 0 0 0 225 2 -20.000000 1 1 121412 6 42 1 0 1 1 1.708986 1 0.370000 1.800000 0.226994 0.850000 7.300000e-01 0.980000 0.860000 0.862620 0.850000 1 7.900000e-01 9.300000e-01 KCNH6 81033 broad.mit.edu 37 17 61611489 61611489 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:61611489C>T ENST00000583023.1 + 5 929 c.918C>T c.(916-918)atC>atT p.I306I KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 54 Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162) TGGATCTCATCGTGGACATCA 0.597000 0 SO:0001819 synonymous_variant ENST00000583023.1 1 1 hg19 CCDS11638.1 TCGA-3A-A9IC-01A-11D-A38G-08 KCNH6-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000443853.1 0 0 1 115 459 0 302 0 0 0 1 0 302 2 0 0 0 0 0 2 1 1.000000 113 450 0 295 2 0 0 0 0 302 2 -20.000000 1 1 121412 1 40 1 0 1 1 1.712292 1 0.370000 1.800000 0.226994 0.870000 7.300000e-01 0.980000 0.880000 0.872910 0.870000 1 8.000000e-01 9.400000e-01 SLC13A5 284111 broad.mit.edu 37 17 6599137 6599137 + Silent SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:6599137G>T ENST00000433363.2 - 7 1196 c.963C>A c.(961-963)atC>atA p.I321I SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000573648.1_Silent_p.I321I NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 26 GGAAGAAGCAGATCAGCACGT 0.587000 0 SO:0001819 synonymous_variant ENST00000433363.2 0 1 hg19 CCDS11079.1 TCGA-3A-A9IC-01A-11D-A38G-08 SLC13A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219853.2 0 0 0 11 575 0 188 0 1.329928e-03 0 3 0 188 2 0 0 0 0 0 2 1 0.998190 11 565 0 182 2 0 0 0 0 188 2 -2.948824 1 1 0 0 1 0 1 1 1.703492 1 0.370000 1.800000 0.226994 0.080000 4.000000e-02 0.140000 0.080000 0.089376 0.080000 0 5.000000e-02 1.100000e-01 AQP4 361 broad.mit.edu 37 18 24436280 24436280 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:24436280C>T ENST00000383168.4 - 5 995 c.867G>A c.(865-867)acG>acA p.T289T AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 p.T289T(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TCAGGTCATCCGTCTCTACCT 0.478000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000383168.4 0 1 hg19 CCDS11889.1 TCGA-3A-A9IC-01A-11D-A38G-08 AQP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254914.2 0 0 0 20 1015 0 442 0 0 0 1 0 442 2 0 0 0 0 0 2 1 0.999994 19 994 0 427 2 0 0 0 0 442 2 -1.696575 0 1 121412 4 42 1 0 0 0 2.047984 0 0.370000 1.800000 0.360536 0.100000 5.000000e-02 0.160000 0.100000 0.107659 0.100000 0 7.000000e-02 1.300000e-01 SERPINB2 5055 broad.mit.edu 37 18 61562529 61562529 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:61562529C>A ENST00000299502.4 + 3 280 c.200C>A c.(199-201)gCa>gAa p.A67E SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.A67E NM_002575.2 NP_002566.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 32 Esophageal squamous(42;0.131) Tenecteplase(DB00031)|Urokinase(DB00013) GGAGCCAATGCAGTTACCCCC 0.443000 0 SO:0001583 missense ENST00000299502.4 1 0 hg19 CCDS11989.1 . . . . . . . . . . C 0.513 -0.865696 0.02590 . . ENSG00000197632 ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281 D;D;D;D;T 0.83673 -1.53;-1.75;-1.75;-1.5;-1.06 5.93 0.717 0.18196 Serpin domain (3); 7739.210000 0.00166 U 0.000005 T 0.54159 0.1841 N 0.00841 -1.15 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.62034 -0.6939 10 0.02654 T 1 . 5.6649 0.17690 0.6444:0.1378:0.2178:0.0 . 67 P05120 PAI2_HUMAN E 67 ENSP00000385397:A67E;ENSP00000299502:A67E;ENSP00000401645:A67E;ENSP00000402386:A67E;ENSP00000397096:A67E ENSP00000299502:A67E A + 2 0 SERPINB2 59713509 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 0.208000 0.17415 -0.093000 0.12396 -0.262000 0.10625 GCA TCGA-3A-A9IC-01A-11D-A38G-08 SERPINB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000134009.1 0 0 1 128 628 2 197 1 9.054183e-01 15 7 2 197 2 0 0 0 0 0 2 1 1.000000 125 611 2 195 19 0 0 0 2 197 2 -20.000000 1 0 0 0 1 0 0 0 2.047984 0 0.370000 1.800000 0.360536 0.890000 7.600000e-01 1.000000 1.000000 0.900645 0.890000 1 8.200000e-01 9.700000e-01 PTPRM 5797 broad.mit.edu 37 18 7567856 7567856 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:7567856C>A ENST00000332175.8 + 1 1077 c.40C>A c.(40-42)Ctt>Att p.L14I PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 90 Colorectal(10;0.234) TTTGGCCGGACTTTTGCTAAC 0.756000 0 SO:0001583 missense ENST00000332175.8 1 1 hg19 CCDS11840.1 . . . . . . . . . . C 17.25 3.342799 0.61073 . . ENSG00000173482 ENST00000332175;ENST00000400060 T;T 0.38401 1.14;1.14 3.47 3.47 0.39725 . 0.288191 0.23920 N 0.043243 T 0.28267 0.0698 L 0.39898 1.24 0.80722 D 1 B;B 0.21688 0.059;0.059 B;B 0.13407 0.009;0.009 T 0.06972 -1.0797 10 0.15952 T 0.53 . 14.55 0.68059 0.0:1.0:0.0:0.0 . 14;14 A7MBN1;P28827 .;PTPRM_HUMAN I 14 ENSP00000331418:L14I;ENSP00000382933:L14I ENSP00000331418:L14I L + 1 0 PTPRM 7557856 1.000000 0.71417 1.000000 0.80357 0.857000 0.48899 1.495000 0.35627 1.498000 0.48600 0.305000 0.20034 CTT TCGA-3A-A9IC-01A-11D-A38G-08 PTPRM-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000254456.1 1 0 0 37 228 0 120 0 1.512876e-01 0 5 0 120 2 0 0 0 0 0 2 1 1.000000 36 222 0 120 2 0 0 0 0 120 2 -20.000000 1 1 0 0 1 0 0 0 2.047984 0 0.370000 1.800000 0.360536 0.740000 5.300000e-01 0.970000 0.730000 0.751895 0.740000 0 6.300000e-01 8.600000e-01 ZNF507 22847 broad.mit.edu 37 19 32845207 32845207 + Nonsense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:32845207C>T ENST00000311921.4 + 2 1663 c.1471C>T c.(1471-1473)Cga>Tga p.R491* ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491* NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 31 Esophageal squamous(110;0.162) TGAGTCTCTTCGATTACACTC 0.463000 0 SO:0001587 stop_gained ENST00000311921.4 0 1 hg19 CCDS32985.1 . . . . . . . . . . C 25.5 4.644048 0.87859 . . ENSG00000168813 ENST00000355898;ENST00000311921;ENST00000544431 . . . 5.79 1.09 0.20402 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.10377 T 0.69 . 19.1701 0.93574 0.2995:0.7005:0.0:0.0 . . . . X 491 . ENSP00000312277:R491X R + 1 2 ZNF507 37537047 0.002000 0.14202 0.120000 0.21714 0.130000 0.20726 0.063000 0.14410 -0.159000 0.11021 -0.262000 0.10625 CGA TCGA-3A-A9IC-01A-11D-A38G-08 ZNF507-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450301.3 1 0 0 113 352 0 112 0 2.496965e-01 0 4 0 112 2 0 0 0 0 0 2 1 1.000000 111 346 0 112 2 0 0 0 0 112 2 -20.000000 1 0 0 0 1 3 6 9 3.122457 1 0.370000 1.800000 0.581409 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ZNF302 55900 broad.mit.edu 37 19 35175765 35175765 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:35175765C>T ENST00000446502.2 + 6 1163 c.955C>T c.(955-957)Cat>Tat p.H319Y ZNF302_ENST00000505242.1_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y Q9NR11 ZN302_HUMAN zinc finger protein 302 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACTTACTAACCATCAGAGCAC 0.428000 0 SO:0001583 missense ENST00000446502.2 1 1 hg19 . . . . . . . . . . C 12.20 1.866730 0.32977 . . ENSG00000089335 ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502 D;D;D;D 0.86769 -2.17;-2.17;-2.17;-2.17 0.967 0.967 0.19674 . . . . . D 0.94918 0.8357 H 0.97214 3.96 0.09310 N 1 D;D 0.89917 0.99;1.0 D;D 0.91635 0.973;0.999 D 0.85181 0.1004 9 0.87932 D 0 . 7.7985 0.29160 0.0:1.0:0.0:0.0 . 319;275 E7EVR1;Q9NR11-2 .;. Y 275;275;275;319 ENSP00000391067:H275Y;ENSP00000421028:H275Y;ENSP00000405219:H275Y;ENSP00000396379:H319Y ENSP00000405219:H275Y H + 1 0 ZNF302 39867605 1.000000 0.71417 0.994000 0.49952 0.952000 0.60782 6.528000 0.73807 0.822000 0.34565 0.467000 0.42956 CAT TCGA-3A-A9IC-01A-11D-A38G-08 ZNF302-004 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000372731.1 0 0 1 142 389 1 101 1 9.995045e-01 12 29 1 101 3 0 0 0 0 0 2 1 1.000000 142 383 1 100 18 0 0 0 1 101 2 -6.984519 1 1 0 0 1 3 6 9 3.122457 1 0.370000 1.800000 0.581409 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ZNF382 84911 broad.mit.edu 37 19 37117303 37117303 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:37117303G>A ENST00000292928.2 + 5 617 c.504G>A c.(502-504)gaG>gaA p.E168E ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000435416.1_Silent_p.E167E|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Silent_p.E119E NM_001256838.1|NM_032825.4 NP_001243767.1|NP_116214.2 Q96SR6 ZN382_HUMAN zinc finger protein 382 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CTGGATGGGAGAAATCACTCC 0.358000 0 SO:0001819 synonymous_variant ENST00000292928.2 1 1 hg19 CCDS33004.1 TCGA-3A-A9IC-01A-11D-A38G-08 ZNF382-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109562.2 0 0 0 26 1275 0 278 0 4.435761e-04 0 2 0 278 2 0 0 0 0 0 2 1 1.000000 26 1253 0 274 2 0 0 0 0 278 2 -2.480837 0 1 0 0 1 3 6 9 3.122457 1 0.370000 1.800000 0.581409 0.170000 1.000000e-01 1.000000 0.150000 0.359878 0.170000 0 1.300000e-01 1 ZNF558 148156 broad.mit.edu 37 19 8922295 8922295 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:8922295G>A ENST00000601372.1 - 10 1582 c.871C>T c.(871-873)Cct>Tct p.P291S ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S Q96NG5 ZN558_HUMAN zinc finger protein 558 15 CATTCATAAGGTTTCTCCCCT 0.448000 0 SO:0001583 missense ENST00000601372.1 0 1 hg19 CCDS12208.1 . . . . . . . . . . G 23.8 4.458995 0.84317 . . ENSG00000167785 ENST00000301475;ENST00000444186 T;T 0.16743 2.32;2.32 5.07 5.07 0.68467 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.43260 D 0.000595 T 0.38532 0.1044 L 0.60904 1.88 0.47214 D 0.999359 D 0.89917 1.0 D 0.72338 0.977 T 0.09487 -1.0672 10 0.87932 D 0 -15.4151 15.9729 0.80034 0.0:0.0:1.0:0.0 . 291 Q96NG5 ZN558_HUMAN S 291;220 ENSP00000301475:P291S;ENSP00000410703:P220S ENSP00000301475:P291S P - 1 0 ZNF558 8783295 1.000000 0.71417 0.954000 0.39281 0.979000 0.70002 8.818000 0.91991 2.636000 0.89361 0.591000 0.81541 CCT TCGA-3A-A9IC-01A-11D-A38G-08 ZNF558-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459955.2 0 0 0 11 520 0 197 0 7.637845e-03 0 6 0 197 2 0 0 0 0 0 2 1 0.998179 11 511 0 193 2 0 0 0 0 197 2 -3.279983 1 1 0 0 1 0 1 1 1.750342 1 0.370000 1.800000 0.239084 0.090000 4.000000e-02 0.160000 0.090000 0.100162 0.090000 0 6.000000e-02 1.300000e-01 MUC16 94025 broad.mit.edu 37 19 9063069 9063069 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:9063069G>A ENST00000397910.4 - 3 24580 c.24377C>T c.(24376-24378)aCc>aTc p.T8126I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 AGAGCTGCTGGTCTTTCTCAG 0.527000 0 SO:0001583 missense ENST00000397910.4 1 1 hg19 CCDS54212.1 . . . . . . . . . . g 5.227 0.227444 0.09916 . . ENSG00000181143 ENST00000397910 T 0.02472 4.28 3.09 2.02 0.26589 . . . . . T 0.02767 0.0083 L 0.29908 0.895 . . . P 0.36837 0.571 B 0.37047 0.24 T 0.28073 -1.0055 8 0.87932 D 0 . 7.2133 0.25945 0.0:0.0:0.7105:0.2894 . 8126 B5ME49 . I 8126 ENSP00000381008:T8126I ENSP00000381008:T8126I T - 2 0 MUC16 8924069 0.000000 0.05858 0.005000 0.12908 0.009000 0.06853 -0.336000 0.07863 0.827000 0.34685 0.508000 0.49915 ACC TCGA-3A-A9IC-01A-11D-A38G-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 1 0 1 75 326 0 80 0 0 1 0 0 80 2 0 0 0 0 0 2 1 1.000000 73 319 0 75 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 0 1 1 1.750342 1 0.370000 1.800000 0.239084 0.820000 6.600000e-01 0.990000 0.830000 0.835187 0.820000 0 7.400000e-01 9.200000e-01 OR7D4 125958 broad.mit.edu 37 19 9325236 9325236 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:9325236G>A ENST00000308682.2 - 1 306 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 26 CCCCATGTAGGAGATGTCTTT 0.488000 0 SO:0001583 missense ENST00000308682.2 1 1 hg19 CCDS32901.1 . . . . . . . . . . G 10.44 1.350572 0.24512 . . ENSG00000174667 ENST00000308682 T 0.00745 5.75 3.86 1.64 0.23874 GPCR, rhodopsin-like superfamily (1); 0.344022 0.25397 N 0.030975 T 0.04003 0.0112 M 0.94142 3.5 0.09310 N 1 P 0.52316 0.952 P 0.55667 0.781 T 0.07158 -1.0787 10 0.87932 D 0 . 8.2914 0.31960 0.0976:0.1631:0.7393:0.0 . 93 Q8NG98 OR7D4_HUMAN F 93 ENSP00000310488:S93F ENSP00000310488:S93F S - 2 0 OR7D4 9186236 0.075000 0.21258 0.020000 0.16555 0.086000 0.17979 2.488000 0.45276 0.951000 0.37770 0.436000 0.28706 TCC TCGA-3A-A9IC-01A-11D-A38G-08 OR7D4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449004.1 1 0 1 68 255 0 119 0 0 0 0 119 2 0 0 0 0 0 2 1 1.000000 67 249 0 117 2 0 0 0 0 119 2 -20.000000 1 1 0 0 1 0 1 1 1.750342 1 0.370000 1.800000 0.239084 0.920000 7.400000e-01 1.000000 1.000000 0.914607 0.920000 1 8.200000e-01 1 CDC14A 8556 broad.mit.edu 37 1 100964516 100964516 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:100964516C>T ENST00000336454.3 + 15 1808 c.1453C>T c.(1453-1455)Cta>Tta p.L485L CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) AGCCAGTTCTCTAGGGAACTT 0.458000 0 SO:0001819 synonymous_variant ENST00000336454.3 1 1 hg19 CCDS769.1 TCGA-3A-A9IC-01A-11D-A38G-08 CDC14A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000030220.1 1 0 1 43 175 0 99 0 0 0 1 0 99 2 0 0 0 0 0 2 1 1.000000 42 170 0 98 2 0 0 0 0 99 2 -3.432197 1 1 0 0 1 0 1 1 2.074476 0 0.370000 1.800000 0.368832 0.990000 7.900000e-01 1.000000 1.000000 0.971940 0.990000 1 9.200000e-01 1 VAV3 10451 broad.mit.edu 37 1 108322082 108322082 + Silent SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:108322082T>A ENST00000370056.4 - 3 628 c.354A>T c.(352-354)acA>acT p.T118T VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) ATGCTATAGGTGTTCGAGAAA 0.318000 0 SO:0001819 synonymous_variant ENST00000370056.4 1 1 hg19 CCDS785.1 . . . . . . . . . . T 8.249 0.808483 0.16467 . . ENSG00000134215 ENST00000490388 . . . 5.66 -2.99 0.05497 . . . . . T 0.21387 0.0515 . . . 0.80722 D 1 . . . . . . T 0.32402 -0.9908 4 . . . . 1.9071 0.03279 0.1262:0.3105:0.1305:0.4328 . . . . L 113 . . H - 2 0 VAV3 108123605 0.350000 0.24878 0.943000 0.38184 0.624000 0.37722 -0.789000 0.04609 -0.883000 0.03982 -0.917000 0.02746 CAC TCGA-3A-A9IC-01A-11D-A38G-08 VAV3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030242.2 1 0 1 31 162 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 1.000000 31 158 0 54 2 0 0 0 0 55 2 -20.000000 1 1 0 0 1 0 1 1 2.074476 0 0.370000 1.800000 0.368832 0.860000 6.100000e-01 1.000000 1.000000 0.861079 0.860000 1 7.300000e-01 1 VTCN1 79679 broad.mit.edu 37 1 117699284 117699284 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:117699284G>A ENST00000369458.3 - 3 435 c.357C>T c.(355-357)aaC>aaT p.N119N VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000463461.1_5'UTR NM_024626.3 NP_078902.2 V-set domain containing T cell activation inhibitor 1 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) TGAGTTGCACGTTTTTCAGCC 0.453000 0 SO:0001819 synonymous_variant ENST00000369458.3 0 1 hg19 CCDS894.1 TCGA-3A-A9IC-01A-11D-A38G-08 VTCN1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000033500.2 0 0 0 6 398 0 82 0 1.356655e-02 0 10 0 82 2 0 0 0 0 0 2 1 0.963597 6 392 0 80 2 0 0 0 0 82 2 -3.159431 1 1 121412 1 37 1 0 1 1 2.074476 0 0.370000 1.800000 0.368832 0.080000 2.000000e-02 0.170000 0.080000 0.092639 0.080000 0 5.000000e-02 1.300000e-01 AKR7L 246181 broad.mit.edu 37 1 19595852 19595852 + RNA SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:19595852G>A ENST00000429712.1 - 0 737 AKR7L_ENST00000420396.2_RNA Q8NHP1 ARK74_HUMAN aldo-keto reductase family 7-like 6 TGTACTTGCCGGTCAGCAGGC 0.627000 0 ENST00000429712.1 0 1 hg19 TCGA-3A-A9IC-01A-11D-A38G-08 AKR7L-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000007163.3 0 0 0 5 277 0 120 0 2.177388e-01 0 41 0 120 2 0 0 0 0 0 2 1 0.933880 5 270 0 117 2 0 0 0 0 120 2 -2.530209 1 1 121412 31 45 1 1 2 3 2.087888 0 0.370000 1.800000 0.372322 0.100000 3.000000e-02 0.240000 0.100000 0.122618 0.100000 0 6.000000e-02 1.600000e-01 ASPM 259266 broad.mit.edu 37 1 197070385 197070385 + Missense_Mutation SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:197070385T>C ENST00000367409.4 - 18 8252 c.7996A>G c.(7996-7998)Acc>Gcc p.T2666A ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 165 ACTGCTTGGGTACGCACTGCA 0.368000 0 SO:0001583 missense ENST00000367409.4 1 1 hg19 CCDS1389.1 . . . . . . . . . . T 10.25 1.297929 0.23650 . . ENSG00000066279 ENST00000367409;ENST00000367406 T 0.71461 -0.57 4.87 2.43 0.29744 . 0.323751 0.26478 N 0.024158 T 0.67859 0.2938 L 0.38838 1.175 0.21473 N 0.999675 P;P 0.51933 0.949;0.587 D;B 0.65987 0.94;0.241 T 0.55289 -0.8164 10 0.22109 T 0.4 . 1.899 0.03264 0.1319:0.1509:0.1367:0.5805 . 652;2666 E7EQ84;Q8IZT6 .;ASPM_HUMAN A 2666;652 ENSP00000356379:T2666A ENSP00000356376:T652A T - 1 0 ASPM 195337008 0.001000 0.12720 0.197000 0.23402 0.500000 0.33767 0.732000 0.26072 0.259000 0.21709 0.455000 0.32223 ACC TCGA-3A-A9IC-01A-11D-A38G-08 ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000088256.1 1 0 1 110 248 0 45 1 6.838121e-01 3 4 0 45 2 0 0 0 0 0 2 1 1.000000 107 243 0 45 2 0 0 0 0 45 2 -20.000000 1 1 0 0 1 1 2 3 2.409186 1 0.370000 1.800000 0.468354 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 CYP2J2 1573 broad.mit.edu 37 1 60359407 60359407 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:60359407G>T ENST00000371204.3 - 9 1468 c.1425C>A c.(1423-1425)aaC>aaA p.N475K CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 26 all_cancers(7;0.000396) Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228) GCTTCTCATTGTTTGGGGGCC 0.463000 0 SO:0001583 missense ENST00000371204.3 0 1 hg19 CCDS613.1 . . . . . . . . . . G 4.196 0.034984 0.08101 . . ENSG00000134716 ENST00000371204 T 0.66460 -0.21 5.77 0.0605 0.14336 . 1.795700 0.02607 N 0.101724 T 0.37320 0.0999 N 0.05306 -0.075 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.36648 -0.9739 10 0.05959 T 0.93 . 1.0313 0.01539 0.1662:0.2556:0.2891:0.2891 . 475 P51589 CP2J2_HUMAN K 475 ENSP00000360247:N475K ENSP00000360247:N475K N - 3 2 CYP2J2 60131995 0.000000 0.05858 0.042000 0.18584 0.879000 0.50718 -0.027000 0.12371 0.309000 0.22966 0.655000 0.94253 AAC TCGA-3A-A9IC-01A-11D-A38G-08 CYP2J2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000024940.1 0 0 0 25 1454 1 357 0 1.814823e-01 0 44 1 357 2 0 0 0 0 0 2 1 1.000000 23 1433 0 346 2 0 0 0 1 357 2 -3.319216 1 1 0 0 1 0 1 1 2.074476 0 0.370000 1.800000 0.368832 0.080000 5.000000e-02 0.130000 0.100000 0.094616 0.080000 0 6.000000e-02 1.100000e-01 IFI44L 10964 broad.mit.edu 37 1 79093845 79093845 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:79093845C>T ENST00000370751.5 + 2 424 c.245C>T c.(244-246)tCc>tTc p.S82F IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 22 CCAAATGATTCCCTATGGTTT 0.313000 0 SO:0001583 missense ENST00000370751.5 1 1 hg19 CCDS687.2 . . . . . . . . . . C 12.65 2.000516 0.35320 . . ENSG00000137959 ENST00000452835;ENST00000370751;ENST00000450498 T;T;T 0.35973 1.28;3.08;2.49 2.89 1.97 0.26223 . 0.239768 0.34652 N 0.003789 T 0.10208 0.0250 L 0.34521 1.04 0.21184 N 0.999769 B 0.28552 0.215 B 0.28916 0.096 T 0.13098 -1.0522 10 0.54805 T 0.06 -4.5215 5.0216 0.14363 0.0:0.7217:0.0:0.2783 . 82 Q53G44 IF44L_HUMAN F 82;82;59 ENSP00000409914:S82F;ENSP00000359787:S82F;ENSP00000400784:S59F ENSP00000359787:S82F S + 2 0 IFI44L 78866433 0.000000 0.05858 0.010000 0.14722 0.106000 0.19336 0.018000 0.13422 0.793000 0.33875 0.411000 0.27672 TCC TCGA-3A-A9IC-01A-11D-A38G-08 IFI44L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026834.3 0 0 0 11 278 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.998258 11 273 0 74 2 0 0 0 0 75 2 -12.127670 1 1 121378 1 26 1 0 1 1 2.074476 0 0.370000 1.800000 0.368832 0.200000 1.000000e-01 0.350000 0.200000 0.221178 0.200000 0 1.500000e-01 2.800000e-01 ANKAR 150709 broad.mit.edu 37 2 190603299 190603299 + Silent SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:190603299A>G ENST00000520309.1 + 19 3679 c.3591A>G c.(3589-3591)gtA>gtG p.V1197V ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGATTGTTGTACTGGCTAAAG 0.313000 0 SO:0001819 synonymous_variant ENST00000520309.1 1 1 hg19 CCDS33351.2 TCGA-3A-A9IC-01A-11D-A38G-08 ANKAR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335045.3 1 0 1 75 371 0 144 0 7.719191e-02 0 3 0 144 2 0 0 0 0 0 2 1 1.000000 74 364 0 143 2 0 0 0 0 144 2 -20.000000 1 1 0 0 1 0 0 0 2.056765 0 0.370000 1.800000 0.365303 0.890000 7.200000e-01 1.000000 1.000000 0.897897 0.890000 1 8.000000e-01 1 PMS1 5378 broad.mit.edu 37 2 190718684 190718684 + Missense_Mutation SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:190718684A>G ENST00000441310.2 + 8 1075 c.842A>G c.(841-843)aAt>aGt p.N281S PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CATCATTACAATCTGAAATGC 0.284000 Mis, N colorectal, endometrial, ovarian Direct reversal of damage;Mismatch excision repair (MMR) yes Rec Hereditary non-polyposis colorectal cancer 2 2q31-q33 5378 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) E 0 SO:0001583 missense ENST00000441310.2 1 1 hg19 CCDS2302.1 . . . . . . . . . . A 4.982 0.182439 0.09495 . . ENSG00000064933 ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593 T;T;D;T;T;T;T 0.83335 -1.35;-1.35;-1.71;-1.35;-1.35;-1.35;-1.35 4.6 -0.982 0.10266 Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1); 0.586689 0.20108 N 0.099081 T 0.61148 0.2324 N 0.11106 0.095 0.25091 N 0.990853 B;B;B;B;B;B;B 0.20368 0.008;0.013;0.025;0.044;0.008;0.027;0.008 B;B;B;B;B;B;B 0.19666 0.026;0.012;0.026;0.022;0.026;0.017;0.026 T 0.48948 -0.8989 10 0.30078 T 0.28 -9.7476 5.5087 0.16868 0.5066:0.2523:0.2411:0.0 . 281;242;242;66;242;281;281 Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277 .;.;.;.;.;.;PMS1_HUMAN S 105;281;105;242;281;105;220;66 ENSP00000406490:N281S;ENSP00000404492:N105S;ENSP00000387125:N242S;ENSP00000401064:N281S;ENSP00000398378:N105S;ENSP00000389938:N220S;ENSP00000387169:N66S ENSP00000376149:N105S N + 2 0 PMS1 190426929 0.457000 0.25752 0.992000 0.48379 0.986000 0.74619 0.421000 0.21280 0.038000 0.15604 0.455000 0.32223 AAT TCGA-3A-A9IC-01A-11D-A38G-08 PMS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255918.2 1 0 1 103 462 0 134 0 7.144200e-01 1 12 0 134 2 0 0 0 0 0 2 1 1.000000 102 454 0 130 2 0 0 0 0 134 2 -20.000000 1 1 0 0 1 0 0 0 2.056765 0 0.370000 1.800000 0.365303 0.970000 8.100000e-01 1.000000 1.000000 0.954817 0.970000 1 8.800000e-01 1 BOC 91653 broad.mit.edu 37 3 113005548 113005548 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:113005548C>T ENST00000495514.1 + 20 3888 c.3184C>T c.(3184-3186)Cca>Tca p.P1062S BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 68 Epithelial(53;0.227) GGGCCTTGTGCCAGTTGAAGA 0.577000 0 SO:0001583 missense ENST00000495514.1 0 1 hg19 CCDS2971.1 . . . . . . . . . . C 25.5 4.640112 0.87760 . . ENSG00000144857 ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008 T;T;T 0.72615 -0.67;-0.66;-0.67 6.04 6.04 0.98038 . 0.000000 0.64402 D 0.000001 T 0.78534 0.4298 L 0.32530 0.975 0.52501 D 0.999953 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.998;0.996 T 0.76545 -0.2920 10 0.42905 T 0.14 . 18.7597 0.91845 0.0:1.0:0.0:0.0 . 879;1063;1062 Q9BWV1-2;Q9BWV1-3;Q9BWV1 .;.;BOC_HUMAN S 1062;1063;1062;38 ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S ENSP00000273395:P1063S P + 1 0 BOC 114488238 0.996000 0.38824 0.571000 0.28486 0.991000 0.79684 5.038000 0.64177 2.873000 0.98535 0.561000 0.74099 CCA TCGA-3A-A9IC-01A-11D-A38G-08 BOC-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354485.3 0 0 0 9 1223 0 382 0 1.143959e-01 0 70 0 382 2 0 0 0 0 0 2 1 0.993756 9 1203 0 370 2 0 0 0 0 382 2 -1.939597 0 1 0 0 1 1 2 3 2.085297 0 0.370000 1.800000 0.371163 0.030000 0 0.080000 0.040000 0.044117 0.030000 0 2.000000e-02 6.000000e-02 CD86 942 broad.mit.edu 37 3 121822548 121822548 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:121822548G>A ENST00000330540.2 + 3 370 c.254G>A c.(253-255)cGc>cAc p.R85H CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 23 Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681) TATATGGGCCGCACAAGTTTT 0.423000 GBM(67;1379 1389 36064 39806) 0 SO:0001583 missense ENST00000330540.2 0 1 hg19 CCDS3009.1 . . . . . . . . . . G 25.3 4.619268 0.87460 . . ENSG00000114013 ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627 T;T;T;T 0.72505 1.2;-0.66;-0.66;-0.66 5.54 5.54 0.83059 Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1); 0.000000 0.64402 D 0.000016 D 0.87414 0.6171 M 0.93106 3.38 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.89572 0.3814 10 0.87932 D 0 -18.8448 14.8575 0.70351 0.0:0.0:1.0:0.0 . 85 P42081 CD86_HUMAN H 3;85;79;79 ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H ENSP00000332049:R85H R + 2 0 CD86 123305238 0.999000 0.42202 0.958000 0.39756 0.915000 0.54546 4.887000 0.63156 2.884000 0.98904 0.655000 0.94253 CGC TCGA-3A-A9IC-01A-11D-A38G-08 CD86-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000355671.1 0 0 0 8 798 1 154 0 6.949135e-03 0 11 1 154 2 1 9.981516e-01 2 1181 0 397 2 1 0.988551 8 785 0 148 2 0 0 0 1 154 2 -1.809761 0 1 0 0 1 1 2 3 2.085297 0 0.370000 1.800000 0.371163 0.050000 1.000000e-02 0.110000 0.060000 0.060249 0.050000 0 3.000000e-02 8.000000e-02 TGFBR2 7048 broad.mit.edu 37 3 30732964 30732964 + Missense_Mutation SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 A T A A Valid Somatic Phase_I WXS targeted Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:30732964A>T ENST00000295754.5 + 7 1959 c.1577A>T c.(1576-1578)gAg>gTg p.E526V TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 53 CACGACCCAGAGGCCCGTCTC 0.597000 0 SO:0001583 missense ENST00000295754.5 1 1 hg19 CCDS2648.1 . . . . . . . . . . A 29.4 5.007072 0.93287 . . ENSG00000163513 ENST00000295754;ENST00000359013;ENST00000439925 T;T 0.66995 -0.24;-0.24 5.91 5.91 0.95273 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.81403 0.4815 M 0.72118 2.19 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.83188 -0.0085 10 0.72032 D 0.01 . 16.3512 0.83208 1.0:0.0:0.0:0.0 . 526;551 P37173;D2JYI1 TGFR2_HUMAN;. V 526;551;356 ENSP00000295754:E526V;ENSP00000351905:E551V ENSP00000295754:E526V E + 2 0 TGFBR2 30707968 1.000000 0.71417 0.986000 0.45419 0.974000 0.67602 9.339000 0.96797 2.266000 0.75297 0.533000 0.62120 GAG TCGA-3A-A9IC-01A-11D-A38G-08 TGFBR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252994.2 1 0 1 62 230 0 79 1 9.999970e-01 12 61 0 79 2 1 1 138 467 0 265 2 1 1.000000 61 217 0 77 2 0 0 0 0 79 2 -20.000000 1 1 0 0 1 0 1 1 1.704522 1 0.370000 1.800000 0.226994 0.890000 7.200000e-01 1.000000 0.920000 0.888883 0.890000 1 8.000000e-01 9.700000e-01 HHATL 57467 broad.mit.edu 37 3 42739123 42739123 + Nonsense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:42739123G>A ENST00000441594.1 - 7 1003 c.742C>T c.(742-744)Cga>Tga p.R248* HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248* NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 19 GCCTGGGCTCGGATGTGCCAC 0.617000 0 SO:0001587 stop_gained ENST00000441594.1 0 1 hg19 CCDS2704.1 . . . . . . . . . . g 36 5.690128 0.96793 . . ENSG00000010282 ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462 . . . 4.99 4.09 0.47781 . 0.410133 0.27622 N 0.018551 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.18276 T 0.48 -11.3238 14.236 0.65927 0.0:0.0:0.8496:0.1504 . . . . X 248;248;157;183 . ENSP00000310621:R248X R - 1 2 HHATL 42714127 0.983000 0.35010 0.973000 0.42090 0.737000 0.42083 2.510000 0.45468 1.271000 0.44313 0.558000 0.71614 CGA TCGA-3A-A9IC-01A-11D-A38G-08 HHATL-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343627.1 0 0 0 5 289 0 119 0 0 0 0 119 2 0 0 0 0 0 2 1 0.935222 5 284 0 116 2 0 0 0 0 119 2 -2.798733 1 1 121412 3 34 1 0 1 1 1.704522 1 0.370000 1.800000 0.226994 0.070000 2.000000e-02 0.160000 0.070000 0.088260 0.070000 0 4.000000e-02 1.200000e-01 ENAM 10117 broad.mit.edu 37 4 71508016 71508016 + Silent SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:71508016A>T ENST00000396073.3 + 9 1154 c.873A>T c.(871-873)ccA>ccT p.P291P ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 6 Lung(101;0.235) GGATTGGCCCACTCCCTGCAG 0.512000 0 SO:0001819 synonymous_variant ENST00000396073.3 0 1 hg19 CCDS3544.2 TCGA-3A-A9IC-01A-11D-A38G-08 ENAM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252166.3 0 0 0 5 303 1 103 0 0 0 1 103 2 0 0 0 0 0 2 0 0.058621 5 292 1 102 12 0 0 0 1 103 2 -6.065235 1 1 0 0 1 0 0 0 2.033927 0 0.370000 1.800000 0.355696 0.090000 3.000000e-02 0.190000 0.090000 0.101703 0.090000 0 5.000000e-02 1.400000e-01 PCDHB12 56124 broad.mit.edu 37 5 140589361 140589361 + Missense_Mutation SNP T T G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:140589361T>G ENST00000239450.2 + 1 1071 c.882T>G c.(880-882)atT>atG p.I294M PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTTGAAATTAATCAAAAGT 0.398000 0 SO:0001583 missense ENST00000239450.2 1 1 hg19 CCDS4254.1 . . . . . . . . . . T 10.58 1.390776 0.25118 . . ENSG00000120328 ENST00000239450 T 0.72615 -0.67 4.06 -0.424 0.12321 Cadherin (4);Cadherin-like (1); . . . . T 0.70622 0.3245 M 0.81614 2.55 0.39524 D 0.968565 P 0.44429 0.835 P 0.49477 0.612 T 0.68341 -0.5434 9 0.59425 D 0.04 . 0.1734 0.00116 0.2491:0.1891:0.1861:0.3757 . 294 Q9Y5F1 PCDBC_HUMAN M 294 ENSP00000239450:I294M ENSP00000239450:I294M I + 3 3 PCDHB12 140569545 0.000000 0.05858 0.033000 0.17914 0.538000 0.34931 -4.588000 0.00212 0.078000 0.16900 0.402000 0.26972 ATT TCGA-3A-A9IC-01A-11D-A38G-08 PCDHB12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251815.2 1 0 0 48 632 0 383 0 0 0 0 383 2 0 0 0 0 0 2 1 1.000000 46 610 0 378 2 0 0 0 0 383 2 -20.000000 1 1 0 0 1 0 2 2 2.152723 1 0.370000 1.800000 0.370000 0.380000 2.800000e-01 1.000000 0.380000 0.436942 0.380000 0 3.300000e-01 4.600000e-01 TCERG1 10915 broad.mit.edu 37 5 145838683 145838683 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:145838683C>T ENST00000296702.5 + 4 713 c.675C>T c.(673-675)gcC>gcT p.A225A TCERG1_ENST00000394421.2_Silent_p.A225A NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) aagcccaagcccaggcccagg 0.701000 0 SO:0001819 synonymous_variant ENST00000296702.5 1 1 hg19 CCDS4282.1 TCGA-3A-A9IC-01A-11D-A38G-08 TCERG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251886.1 1 0 0 52 117 0 94 1 8.529659e-01 3 7 0 94 2 0 0 0 0 0 2 1 1.000000 50 114 0 93 2 0 0 0 0 94 2 -5.695359 1 1 0 0 1 0 2 2 2.152723 1 0.370000 1.800000 0.370000 0.990000 9.900000e-01 1.000000 1.000000 0.999998 0.990000 1 9.900000e-01 1 HMGCR 3156 broad.mit.edu 37 5 74646647 74646647 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:74646647C>T ENST00000287936.4 + 9 970 c.814C>T c.(814-816)Cgc>Tgc p.R272C HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C|HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TGCTCACAGTCGCTGGATAGC 0.368000 0 SO:0001583 missense ENST00000287936.4 0 1 hg19 CCDS4027.1 . . . . . . . . . . C 32 5.171053 0.94807 . . ENSG00000113161 ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975 T;T;T 0.59502 0.37;0.37;0.26 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 T 0.79167 0.4400 M 0.81802 2.56 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.75484 0.977;0.945;0.986;0.964 T 0.80067 -0.1537 10 0.72032 D 0.01 -13.5435 20.3248 0.98698 0.0:1.0:0.0:0.0 . 272;272;272;272 B2R649;A8KA27;P04035-2;P04035 .;.;.;HMDH_HUMAN C 272;203;272;272 ENSP00000426745:R272C;ENSP00000287936:R272C;ENSP00000340816:R272C ENSP00000287936:R272C R + 1 0 HMGCR 74682403 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.924000 0.70054 2.818000 0.97014 0.655000 0.94253 CGC TCGA-3A-A9IC-01A-11D-A38G-08 HMGCR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219877.2 0 0 0 7 381 0 169 0 9.671592e-02 0 25 0 169 2 0 0 0 0 0 2 1 0.979537 7 373 0 167 2 0 0 0 0 169 2 -2.520122 1 1 0 0 1 0 1 1 1.694147 1 0.370000 1.800000 0.226994 0.080000 3.000000e-02 0.150000 0.080000 0.089568 0.080000 0 5.000000e-02 1.200000e-01 REV3L 5980 broad.mit.edu 37 6 111693843 111693843 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:111693843C>G ENST00000358835.3 - 14 6169 c.5715G>C c.(5713-5715)caG>caC p.Q1905H REV3L_ENST00000435970.1_Missense_Mutation_p.Q1827H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) AAAATGGTTCCTGGTAAATAG 0.383000 DNA polymerases (catalytic subunits) 0 SO:0001583 missense ENST00000358835.3 1 1 hg19 CCDS5091.2 . . . . . . . . . . C 13.35 2.209683 0.39003 . . ENSG00000009413 ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970 T;T;T;T 0.57907 0.37;0.37;0.37;0.37 6.03 1.84 0.25277 Ribonuclease H-like (1); 0.147380 0.49916 D 0.000123 T 0.60637 0.2284 M 0.81341 2.54 0.35196 D 0.773874 D 0.89917 1.0 D 0.83275 0.996 T 0.66069 -0.6015 10 0.87932 D 0 -2.7769 9.4873 0.38937 0.0:0.5989:0.0:0.4011 . 1905 O60673 DPOLZ_HUMAN H 1905;1905;1905;1827 ENSP00000357792:Q1905H;ENSP00000357795:Q1905H;ENSP00000351697:Q1905H;ENSP00000402003:Q1827H ENSP00000351697:Q1905H Q - 3 2 REV3L 111800536 0.993000 0.37304 1.000000 0.80357 0.987000 0.75469 0.348000 0.20031 0.459000 0.27016 -0.140000 0.14226 CAG TCGA-3A-A9IC-01A-11D-A38G-08 REV3L-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043695.1 1 0 1 68 487 0 182 0 1.554024e-02 0 2 0 182 2 0 0 0 0 0 2 1 1.000000 68 478 0 178 2 0 0 0 0 182 2 -2.716734 1 1 0 0 1 0 1 1 1.921244 0 0.370000 1.800000 0.330357 0.610000 4.800000e-01 0.760000 0.620000 0.627673 0.610000 0 5.500000e-01 7.000000e-01 SYNE1 23345 broad.mit.edu 37 6 152763329 152763329 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:152763329C>T ENST00000367255.5 - 31 4490 c.3889G>A c.(3889-3891)Gcg>Acg p.A1297T SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) TGCGCCTGCGCGATCTGCTGC 0.557000 HNSCC(10;0.0054) 0 SO:0001583 missense ENST00000367255.5 1 1 hg19 CCDS5236.2 . . . . . . . . . . c 0.960 -0.703603 0.03255 . . ENSG00000131018 ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186 T;T;T;T;T;D;D;D 0.87334 0.75;0.75;0.65;0.75;0.85;-2.15;-2.24;-2.24 5.41 2.71 0.32032 . 1.087730 0.07067 N 0.834808 T 0.59432 0.2193 L 0.28274 0.84 0.09310 N 1 B;B;B;B;B;B 0.10296 0.002;0.001;0.002;0.003;0.001;0.002 B;B;B;B;B;B 0.06405 0.002;0.0;0.001;0.002;0.0;0.002 T 0.47381 -0.9122 10 0.19147 T 0.46 . 5.2817 0.15678 0.1385:0.5754:0.0:0.2861 . 1280;1297;1287;1297;1297;1304 B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4 .;SYNE1_HUMAN;.;.;.;. T 1297;1304;1297;1304;1363;1297;1287;1297 ENSP00000356224:A1297T;ENSP00000396024:A1304T;ENSP00000265368:A1297T;ENSP00000390975:A1304T;ENSP00000341887:A1363T;ENSP00000356222:A1297T;ENSP00000356217:A1287T;ENSP00000414510:A1297T ENSP00000265368:A1297T A - 1 0 SYNE1 152805022 0.000000 0.05858 0.000000 0.03702 0.078000 0.17371 0.645000 0.24782 0.367000 0.24454 -0.127000 0.14921 GCG TCGA-3A-A9IC-01A-11D-A38G-08 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 1 0 1 48 275 0 134 0 0 0 0 134 2 0 0 0 0 0 2 1 1.000000 47 271 0 134 2 0 0 0 0 134 2 -19.999360 1 1 121406 7 38 1 0 1 1 1.921244 0 0.370000 1.800000 0.330357 0.750000 5.700000e-01 0.950000 0.760000 0.761410 0.750000 0 6.500000e-01 8.600000e-01 ZKSCAN3 80317 broad.mit.edu 37 6 28327520 28327520 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:28327520C>T ENST00000377255.3 + 3 454 c.157C>T c.(157-159)Cgc>Tgc p.R53C ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C|ZKSCAN3_ENST00000341464.5_Intron NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 21 CCGAGGCTTCCGCTACCCGGA 0.632000 0 SO:0001583 missense ENST00000377255.3 1 1 hg19 CCDS4650.1 . . . . . . . . . . . 13.62 2.292117 0.40594 . . ENSG00000189298 ENST00000252211;ENST00000454413;ENST00000377255 T;T 0.04317 3.65;3.65 3.83 1.03 0.20045 Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3); . . . . T 0.03608 0.0103 L 0.28556 0.865 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.54084 -0.8346 9 0.35671 T 0.21 . 2.8501 0.05555 0.3008:0.3842:0.0:0.315 . 53 Q9BRR0 ZKSC3_HUMAN C 53 ENSP00000252211:R53C;ENSP00000366465:R53C ENSP00000252211:R53C R + 1 0 ZKSCAN3 28435499 0.711000 0.27906 0.995000 0.50966 0.580000 0.36256 -0.636000 0.05465 0.404000 0.25506 0.557000 0.71058 CGC TCGA-3A-A9IC-01A-11D-A38G-08 ZKSCAN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040189.3 1 0 1 81 423 0 243 0 1.262818e-01 0 4 0 243 2 0 0 0 0 0 2 1 1.000000 79 421 0 241 2 0 0 0 0 243 2 -2.780571 1 1 121406 1 32 1 0 0 0 1.923057 0 0.370000 1.800000 0.319654 0.790000 6.400000e-01 0.960000 0.800000 0.807340 0.790000 0 7.200000e-01 8.900000e-01 EPO 2056 broad.mit.edu 37 7 100320671 100320671 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:100320671G>A ENST00000252723.2 + 5 678 c.497G>A c.(496-498)cGc>cAc p.R166H NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 12 Lung NSC(181;0.041)|all_lung(186;0.0581) GACACTTTCCGCAAACTCTTC 0.572000 0 SO:0001583 missense ENST00000252723.2 0 1 hg19 CCDS5705.1 . . . . . . . . . . G 8.531 0.870924 0.17322 . . ENSG00000130427 ENST00000252723 T 0.48836 0.8 5.27 2.26 0.28386 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.580439 0.18303 N 0.145360 T 0.23014 0.0556 N 0.08118 0 0.19775 N 0.99996 B;B 0.23806 0.091;0.091 B;B 0.08055 0.003;0.003 T 0.11616 -1.0580 10 0.46703 T 0.11 -36.0186 6.5646 0.22505 0.0954:0.3568:0.5478:0.0 . 165;166 B7ZKK5;P01588 .;EPO_HUMAN H 166 ENSP00000252723:R166H ENSP00000252723:R166H R + 2 0 EPO 100158607 0.997000 0.39634 0.797000 0.32132 0.101000 0.19017 1.375000 0.34295 1.333000 0.45449 0.643000 0.83706 CGC TCGA-3A-A9IC-01A-11D-A38G-08 EPO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000325323.1 0 0 0 6 603 0 244 0 0 0 0 244 2 0 0 0 0 0 2 1 0.962119 6 587 0 239 2 0 0 0 0 244 2 -2.074488 0 1 121412 1 35 1 1 2 3 2.085380 0 0.370000 1.800000 0.371163 0.050000 1.000000e-02 0.120000 0.060000 0.061896 0.050000 0 3.000000e-02 9.000000e-02 MUC17 140453 broad.mit.edu 37 7 100687041 100687041 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:100687041C>T ENST00000306151.4 + 3 12408 c.12344C>T c.(12343-12345)aCg>aTg p.T4115M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGTCCCCACGAATACTACA 0.478000 0 SO:0001583 missense ENST00000306151.4 1 1 hg19 CCDS34711.1 . . . . . . . . . . T 0.008 -1.875680 0.00537 . . ENSG00000169876 ENST00000306151 T 0.02085 4.46 1.06 -2.11 0.07187 . . . . . T 0.01189 0.0039 N 0.14661 0.345 0.09310 N 1 P 0.35793 0.521 B 0.23419 0.046 T 0.35450 -0.9788 9 0.45353 T 0.12 . 4.3146 0.10986 0.0:0.4556:0.3533:0.1911 . 4115 Q685J3 MUC17_HUMAN M 4115 ENSP00000302716:T4115M ENSP00000302716:T4115M T + 2 0 MUC17 100473761 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.644000 0.02002 -3.376000 0.00176 -3.452000 0.00036 ACG TCGA-3A-A9IC-01A-11D-A38G-08 MUC17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347161.1 1 0 1 43 261 0 131 0 0 0 1 0 131 2 0 0 0 0 0 2 1 1.000000 42 254 0 127 2 0 0 0 0 131 2 -19.722340 1 1 0 0 1 1 2 3 2.085380 0 0.370000 1.800000 0.371163 0.760000 5.600000e-01 1.000000 0.760000 0.773231 0.760000 0 6.600000e-01 8.800000e-01 DPP6 1804 broad.mit.edu 37 7 154585899 154585899 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:154585899G>A ENST00000377770.3 + 11 1388 c.1247G>A c.(1246-1248)gGg>gAg p.G416E DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E|DPP6_ENST00000404039.1_Missense_Mutation_p.G352E P42658 DPP6_HUMAN dipeptidyl-peptidase 6 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GCCACCACGGGGGTCTGCACG 0.672000 NSCLC(125;1384 1783 2490 7422 34254) 0 SO:0001583 missense ENST00000377770.3 1 1 hg19 . . . . . . . . . . G 35 5.469040 0.96274 . . ENSG00000130226 ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557 T;T;T;T 0.42131 0.98;0.98;0.98;0.98 4.21 4.21 0.49690 Peptidase S9B, dipeptidylpeptidase IV N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.71443 0.3340 M 0.91406 3.205 0.80722 D 1 D;D;D;D 0.76494 0.997;0.999;0.999;0.999 D;D;D;D 0.91635 0.969;0.997;0.999;0.998 T 0.79683 -0.1701 10 0.59425 D 0.04 -17.0272 16.5503 0.84471 0.0:0.0:1.0:0.0 . 309;354;416;352 E9PDL2;P42658-2;P42658;E9PF59 .;.;DPP6_HUMAN;. E 352;416;354;309 ENSP00000385578:G352E;ENSP00000367001:G416E;ENSP00000328226:G354E;ENSP00000397303:G309E ENSP00000328226:G354E G + 2 0 DPP6 154216832 1.000000 0.71417 0.990000 0.47175 0.997000 0.91878 9.205000 0.95048 2.070000 0.61991 0.650000 0.86243 GGG TCGA-3A-A9IC-01A-11D-A38G-08 DPP6-003 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000322932.1 1 0 1 19 79 0 40 0 0 0 1 0 40 2 0 0 0 0 0 2 1 0.999995 18 78 0 39 2 0 0 0 0 40 2 -20.000000 1 1 0 0 1 1 2 3 2.102029 0 0.370000 1.800000 0.374628 0.990000 6.800000e-01 1.000000 1.000000 0.948760 0.990000 1 8.500000e-01 1 PRPS1L1 221823 broad.mit.edu 37 7 18067282 18067282 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:18067282C>T ENST00000506618.2 - 1 204 c.124G>A c.(124-126)Gtg>Atg p.V42M NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TCAATTTCCACGCAGGTCTCC 0.502000 0 SO:0001583 missense ENST00000506618.2 0 1 hg19 CCDS47552.1 . . . . . . . . . . C 20.9 4.066850 0.76301 . . ENSG00000229937 ENST00000506618 D 0.93019 -3.15 4.27 4.27 0.50696 . . . . . D 0.97629 0.9223 H 0.96547 3.84 . . . D 0.89917 1.0 D 0.78314 0.991 D 0.98556 1.0639 8 0.87932 D 0 . 14.5862 0.68326 0.0:1.0:0.0:0.0 . 42 P21108 PRPS3_HUMAN M 42 ENSP00000424595:V42M ENSP00000424595:V42M V - 1 0 PRPS1L1 18033807 1.000000 0.71417 0.965000 0.40720 0.909000 0.53808 5.366000 0.66122 2.375000 0.81037 0.555000 0.69702 GTG TCGA-3A-A9IC-01A-11D-A38G-08 PRPS1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327667.1 0 0 0 12 959 0 357 0 0 0 0 357 2 0 0 0 0 0 2 1 0.998978 12 939 0 347 2 0 0 0 0 357 2 -2.598738 1 1 121412 3 40 1 1 2 3 2.090516 0 0.370000 1.800000 0.372322 0.060000 2.000000e-02 0.120000 0.060000 0.081437 0.060000 0 4.000000e-02 9.000000e-02 PKD1L1 168507 broad.mit.edu 37 7 47898412 47898412 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:47898412C>T ENST00000289672.2 - 27 4271 c.4221G>A c.(4219-4221)ggG>ggA p.G1407G NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 BBS9/PKD1L1(2) 142 TCACAAATGGCCCCGAGAACT 0.478000 0 SO:0001819 synonymous_variant ENST00000289672.2 0 1 hg19 CCDS34633.1 TCGA-3A-A9IC-01A-11D-A38G-08 PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340974.1 0 0 0 5 334 0 145 0 0 0 0 145 2 0 0 0 0 0 2 1 0.935523 5 329 0 142 2 0 0 0 0 145 2 -4.339413 1 0 0 0 1 1 2 3 2.085380 0 0.370000 1.800000 0.371163 0.080000 2.000000e-02 0.180000 0.080000 0.094815 0.080000 0 5.000000e-02 1.300000e-01 DNAJC30 84277 broad.mit.edu 37 7 73097630 73097630 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:73097630C>A ENST00000395176.2 - 1 153 c.124G>T c.(124-126)Gac>Tac p.D42Y WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 4 TACGAGCAGTCGCCCTGGGAA 0.607000 0 SO:0001583 missense ENST00000395176.2 1 1 hg19 CCDS5556.1 . . . . . . . . . . C 17.08 3.297340 0.60086 . . ENSG00000176410 ENST00000395176;ENST00000539255 T 0.57907 0.37 4.66 3.77 0.43336 Heat shock protein DnaJ, N-terminal (1); 0.393472 0.19126 N 0.122048 T 0.50803 0.1637 L 0.29908 0.895 0.29622 N 0.846083 D 0.62365 0.991 P 0.57283 0.817 T 0.47548 -0.9109 10 0.51188 T 0.08 -13.1658 6.82 0.23852 0.0:0.7956:0.0:0.2044 . 42 Q96LL9 DJC30_HUMAN Y 42;39 ENSP00000378605:D42Y ENSP00000378605:D42Y D - 1 0 DNAJC30 72735566 0.000000 0.05858 0.033000 0.17914 0.023000 0.10783 0.068000 0.14531 1.167000 0.42706 0.655000 0.94253 GAC TCGA-3A-A9IC-01A-11D-A38G-08 DNAJC30-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252304.2 1 0 1 82 409 0 261 1 9.824028e-01 7 27 0 261 2 0 0 0 0 0 2 1 1.000000 79 399 0 259 2 0 0 0 0 261 2 -20.000000 1 1 0 0 1 1 2 3 2.085380 0 0.370000 1.800000 0.371163 0.900000 7.300000e-01 1.000000 1.000000 0.900473 0.900000 1 8.100000e-01 1 GTPBP10 85865 broad.mit.edu 37 7 89984432 89984432 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:89984432G>A ENST00000222511.6 + 4 418 c.352G>A c.(352-354)Gta>Ata p.V118I GTPBP10_ENST00000257659.8_Intron NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 10 CAGAATTTTGGTAGCTCAAGG 0.318000 0 SO:0001583 missense ENST00000222511.6 0 1 hg19 CCDS5617.1 . . . . . . . . . . G 16.74 3.207693 0.58343 . . ENSG00000105793 ENST00000426366;ENST00000450619;ENST00000222511 T;T;T 0.23147 1.92;1.92;1.92 5.93 1.65 0.23941 GTP1/OBG subdomain (3); 0.255751 0.38111 N 0.001808 T 0.20047 0.0482 N 0.25825 0.765 0.41162 D 0.986103 P;B;B 0.34639 0.461;0.142;0.087 B;B;B 0.40940 0.186;0.134;0.344 T 0.04723 -1.0931 9 . . . -5.9962 11.8274 0.52275 0.2753:0.0:0.7247:0.0 . 118;109;135 A4D1E9;C9J8R7;C9JNI1 GTPBA_HUMAN;.;. I 109;135;118 ENSP00000405697:V109I;ENSP00000389510:V135I;ENSP00000222511:V118I . V + 1 0 GTPBP10 89822368 1.000000 0.71417 0.999000 0.59377 0.982000 0.71751 4.014000 0.57145 0.417000 0.25871 0.655000 0.94253 GTA TCGA-3A-A9IC-01A-11D-A38G-08 GTPBP10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059976.3 0 0 0 9 745 0 199 0 1.335882e-02 0 13 0 199 2 0 0 0 0 0 2 1 0.993655 9 729 0 196 2 0 0 0 0 199 2 -6.299759 1 1 0 0 1 1 2 3 2.085380 0 0.370000 1.800000 0.371163 0.060000 2.000000e-02 0.120000 0.060000 0.071473 0.060000 0 4.000000e-02 9.000000e-02 ADCY8 114 broad.mit.edu 37 8 131916097 131916097 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr8:131916097C>T ENST00000286355.5 - 7 3924 c.1832G>A c.(1831-1833)cGg>cAg p.R611Q ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACTGTTTCTCCGGTCTGAGGA 0.478000 HNSCC(32;0.087) 0 SO:0001583 missense ENST00000286355.5 1 1 hg19 CCDS6363.1 . . . . . . . . . . c 15.47 2.843171 0.51057 . . ENSG00000155897 ENST00000286355;ENST00000377928;ENST00000522949 T;T;T 0.81247 -1.34;-1.37;-1.47 6.17 3.43 0.39272 . 0.333655 0.37136 N 0.002223 T 0.71685 0.3369 L 0.55213 1.73 0.22292 N 0.999227 B;B 0.14012 0.004;0.009 B;B 0.08055 0.002;0.003 T 0.54282 -0.8317 10 0.15952 T 0.53 . 8.9319 0.35675 0.0:0.743:0.1241:0.1329 . 611;611 E7EVL1;P40145 .;ADCY8_HUMAN Q 611;611;226 ENSP00000286355:R611Q;ENSP00000367161:R611Q;ENSP00000428010:R226Q ENSP00000286355:R611Q R - 2 0 ADCY8 131985279 1.000000 0.71417 0.984000 0.44739 0.292000 0.27327 1.969000 0.40510 0.945000 0.37605 -0.119000 0.15052 CGG TCGA-3A-A9IC-01A-11D-A38G-08 ADCY8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380080.1 0 0 1 47 295 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 1.000000 45 290 0 90 2 0 0 0 0 91 2 -2.599298 1 1 121412 28 46 1 0 0 0 2.068528 0 0.370000 1.800000 0.367660 0.730000 5.500000e-01 0.940000 0.740000 0.747315 0.730000 0 6.400000e-01 8.400000e-01 TCEAL2 140597 broad.mit.edu 37 X 101382205 101382205 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:101382205C>T ENST00000372780.1 + 3 622 c.403C>T c.(403-405)Ccc>Tcc p.P135S TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 11 GGATGATATACCCAGGAAAGC 0.483000 0 SO:0001583 missense ENST00000372780.1 1 1 hg19 CCDS14496.1 . . . . . . . . . . C 14.19 2.461939 0.43736 . . ENSG00000184905 ENST00000372780;ENST00000329035 T;T 0.09445 2.98;2.98 3.43 2.57 0.30868 . 0.000000 0.47093 D 0.000250 T 0.26448 0.0646 M 0.74258 2.255 0.09310 N 1 D 0.89917 1.0 D 0.78314 0.991 T 0.02581 -1.1138 10 0.62326 D 0.03 . 5.8361 0.18607 0.0:0.8506:0.0:0.1494 . 135 Q9H3H9 TCAL2_HUMAN S 135 ENSP00000361866:P135S;ENSP00000332359:P135S ENSP00000332359:P135S P + 1 0 TCEAL2 101268861 0.637000 0.27216 0.037000 0.18230 0.992000 0.81027 1.350000 0.34010 0.824000 0.34613 0.594000 0.82650 CCC TCGA-3A-A9IC-01A-11D-A38G-08 TCEAL2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057605.1 1 0 1 97 485 0 218 0 6.645291e-01 0 13 0 218 2 0 0 0 0 0 2 1 1.000000 96 470 0 219 2 0 0 0 0 218 2 -20.000000 1 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.890000 7.400000e-01 1.000000 1.000000 0.898694 0.890000 1 8.100000e-01 9.800000e-01 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:17770059C>T ENST00000380041.3 + 7 1156 c.828C>T c.(826-828)tgC>tgT p.C276C SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C NM_001037540.1 NP_001032629.1 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 0 SO:0001819 synonymous_variant ENST00000380041.3 0 1 hg19 CCDS35210.1 TCGA-3A-A9IC-01A-11D-A38G-08 SCML1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060495.5 0 0 0 10 1575 0 472 0 3.848264e-03 0 13 0 472 2 0 0 0 0 0 2 1 0.996565 10 1547 0 463 2 0 0 0 0 472 2 -1.737486 0 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.030000 0 0.070000 0.040000 0.037747 0.030000 0 1.000000e-02 5.000000e-02 ARSF 416 broad.mit.edu 37 X 3002668 3002668 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:3002668G>T ENST00000381127.1 + 6 1012 c.791G>T c.(790-792)gGa>gTa p.G264V ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAACGAGCTGGATCCATTATG 0.448000 0 SO:0001583 missense ENST00000381127.1 1 1 hg19 CCDS14123.1 . . . . . . . . . . G 4.411 0.075973 0.08485 . . ENSG00000062096 ENST00000381127;ENST00000537104;ENST00000359361 D;D;D 0.98474 -4.95;-4.95;-4.95 2.99 2.99 0.34606 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.279575 0.32987 U 0.005404 D 0.95401 0.8507 N 0.11870 0.19 0.09310 N 1 B 0.22851 0.076 B 0.40329 0.326 D 0.91487 0.5209 10 0.62326 D 0.03 . 9.713 0.40256 0.0:0.4614:0.5386:0.0 . 264 P54793 ARSF_HUMAN V 264 ENSP00000370519:G264V;ENSP00000445594:G264V;ENSP00000352319:G264V ENSP00000352319:G264V G + 2 0 ARSF 3012668 0.001000 0.12720 0.292000 0.24919 0.582000 0.36321 0.559000 0.23485 1.099000 0.41499 0.534000 0.68092 GGA TCGA-3A-A9IC-01A-11D-A38G-08 ARSF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055652.1 1 0 1 44 251 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 1.000000 44 250 0 95 2 0 0 0 0 96 2 -20.000000 1 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.800000 6.000000e-01 1.000000 1.000000 0.811353 0.800000 0 6.900000e-01 9.200000e-01 DMD 1756 broad.mit.edu 37 X 32503058 32503058 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:32503058G>A ENST00000357033.4 - 21 2987 c.2781C>T c.(2779-2781)gcC>gcT p.A927A DMD_ENST00000378677.2_Silent_p.A923A NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTTCTCTCTGGCCTGCACAT 0.408000 0 SO:0001819 synonymous_variant ENST00000357033.4 1 1 hg19 CCDS14233.1 TCGA-3A-A9IC-01A-11D-A38G-08 DMD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056182.2 0 0 1 44 212 1 99 0 1.441578e-01 0 4 1 99 2 0 0 0 0 0 2 1 1.000000 44 210 1 99 11 0 0 0 1 99 2 -19.999910 1 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.920000 6.900000e-01 1.000000 1.000000 0.910760 0.920000 1 8.000000e-01 1 ALAS2 212 broad.mit.edu 37 X 55042077 55042077 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:55042077G>A ENST00000330807.5 - 8 1239 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W|ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 17 Glycine(DB00145) CCAGCGCCCCGGGACCCATAC 0.527000 0 SO:0001583 missense ENST00000330807.5 1 1 hg19 CCDS14366.1 . . . . . . . . . . G 17.06 3.293539 0.60086 . . ENSG00000158578 ENST00000330807;ENST00000396198;ENST00000335854 D;D;D 0.95238 -3.65;-3.65;-3.65 5.75 2.8 0.32819 Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.169618 0.52532 D 0.000065 D 0.97561 0.9201 H 0.94658 3.565 0.32571 N 0.529787 D;D;D 0.76494 0.994;0.999;0.999 P;D;P 0.64144 0.875;0.922;0.875 D 0.98784 1.0733 10 0.87932 D 0 -12.041 13.6877 0.62526 0.0:0.0:0.6071:0.3929 . 331;355;368 A8K6C4;Q5JZF5;P22557 .;.;HEM0_HUMAN W 368;355;331 ENSP00000332369:R368W;ENSP00000379501:R355W;ENSP00000337131:R331W ENSP00000332369:R368W R - 1 2 ALAS2 55058802 0.446000 0.25665 0.975000 0.42487 0.674000 0.39518 2.674000 0.46867 0.654000 0.30846 0.594000 0.82650 CGG TCGA-3A-A9IC-01A-11D-A38G-08 ALAS2-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056843.3 0 0 0 10 278 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 0.996683 10 273 0 85 2 0 0 0 0 85 2 -2.806910 1 1 0 0 1 0 1 1 0.370000 1.800000 0.370000 0.190000 9.000000e-02 0.330000 0.180000 0.203809 0.190000 0 1.300000e-01 2.600000e-01