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 OR10G2 26534 broad.mit.edu 37 14 22102229 22102231 + In_Frame_Del DEL TAG TAG - TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr14:22102229_22102231delTAG ENST00000542433.1 - 1 865_867 c.768_770delCTA c.(766-771)tactat>tat p.256_257YY>Y NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) ACAGGGGACATAGTAGACTGTGA 0.552000 0 SO:0001651 inframe_deletion ENST00000542433.1 0 1 hg19 CCDS32047.1 TCGA-HV-A5A4-01A-11D-A26I-08 OR10G2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401525.1 1 0 0 38 258 0 27 0 0 0 27 0 0 0 0 1 0.157042 50 210 3 29 42 0 0 0 0 0 0 -20.000000 1 0 0 0 1 1 2 3 2.002756 0 0.560000 2 0.656250 0.580000 0.420000 0.770000 0.580000 0.597220 0.580000 0 5.000000e-01 6.800000e-01 PLXNB2 23654 broad.mit.edu 37 22 50717108 50717109 + Frame_Shift_Ins INS - - GGAGCCC TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 - GGAGCCC - - Valid Somatic Phase_I WXS targeted Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:50717108_50717109insGGAGCCC ENST00000449103.1 - 29 4703_4704 c.4563_4564insGGGCTCC c.(4561-4566)tccacafs p.T1522fs PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs O15031 PLXB2_HUMAN plexin B2 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) ATCTGCGCTGTGGAGCCCGGAC 0.639000 0 SO:0001589 frameshift_variant ENST00000449103.1 0 1 hg19 CCDS43035.1 TCGA-HV-A5A4-01A-11D-A26I-08 PLXNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316874.3 1 0 0 11 134 0 27 0 9.999994e-01 0 423 0 27 2 1 1 114 1663 0 1195 2 1 0.999010 21 134 0 27 2 0 0 0 0 0 0 -16.224910 1 1 0 0 1 1 2 3 2.032619 0 0.560000 2 0.562450 0.280000 0.140000 0.490000 0.270000 0.298554 0.280000 0 2.000000e-01 3.700000e-01 PDCD4 27250 broad.mit.edu 37 10 112649342 112649342 + Missense_Mutation SNP A A G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr10:112649342A>G ENST00000280154.7 + 7 1103 c.829A>G c.(829-831)Acc>Gcc p.T277A PDCD4_ENST00000393104.2_Missense_Mutation_p.T266A|PDCD4_ENST00000481353.1_3'UTR NM_001199492.1|NM_014456.4 NP_001186421.1|NP_055271.2 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 13 Breast(234;0.0848)|Lung NSC(174;0.238) TTTATGTAATACCTATATTGA 0.313000 Ovarian(115;1498 1603 9363 40056 40885) 0 SO:0001583 missense ENST00000280154.7 1 1 hg19 CCDS7567.1 . . . . . . . . . . A 11.490000 1.653401 0.294250 . . ENSG00000150593 ENST00000280154;ENST00000393104 T;T 0.40225 1.04;1.04 5.790000 4.650000 0.581690 Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1); 0.131375 0.64402 D 0.000002 T 0.20170 0.0485 N 0.05012 -0.13 0.584320 D 0.999993 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.06303 -1.0834 10 0.07990 T 0.79 -2.3734 12.243000 0.545530 0.8724:0.0:0.0:0.1276 . 263;277;266 B4DKX4;Q53EL6;B5ME91 .;PDCD4_HUMAN;. A 277;266 ENSP00000280154:T277A;ENSP00000376816:T266A ENSP00000280154:T277A T + 1 0 PDCD4 112639332 1 0.714170 1 0.803570 0.990000 0.784780 5.923000 0.700450 1.001000 0.390760 0.402000 0.269720 ACC TCGA-HV-A5A4-01A-11D-A26I-08 PDCD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050361.1 1 0 1 281 667 0 68 1 1 41 99 0 68 2 0 0 0 0 0 2 1 1.000000 279 663 0 68 2 0 0 0 0 68 2 -20.000000 1 1 0 0 1 0 0 0 1.998602 0 0.560000 2 0.560000 0.990000 0.950000 1.000000 1.000000 0.996526 0.990000 1 9.900000e-01 1 APBB1 322 broad.mit.edu 37 11 6432332 6432332 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr11:6432332C>T ENST00000609360.1 - 2 345 c.246G>A c.(244-246)acG>acA p.T82T APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T NM_001164.3 NP_001155.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) CACGGTGGGCCGTGGCGGCCC 0.667000 GBM(147;1810 2556 5672 39622) 0 SO:0001819 synonymous_variant ENST00000609360.1 1 1 hg19 TCGA-HV-A5A4-01A-11D-A26I-08 APBB1-023 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000471831.1 1 0 1 493 1188 0 221 1 9.999504e-01 2 35 0 221 2 0 0 0 0 0 2 1 1.000000 490 1169 0 218 2 0 0 0 0 221 2 -19.999050 1 1 0 0 1 0 0 0 2.003133 0 0.560000 2 0.560000 0.990000 0.960000 1.000000 1.000000 0.997733 0.990000 1 9.900000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 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 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) 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 0 0 hg19 CCDS8703.1 . . . . . . . . . . C 27.200000 4.808637 0.907070 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.807220 D 1.000000 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.371900 0.904090 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1 0.714170 1 0.803570 0.998000 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-HV-A5A4-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 66 79 0 6 1 9.986447e-01 6 10 0 6 2 1 1 209 441 0 467 2 1 1.000000 66 79 0 6 2 1 1 3723 4285 0 6 2 -20.000000 1 1 0 0 1 1 2 3 2.624080 1 0.560000 2 0.656250 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 IQCH 64799 broad.mit.edu 37 15 67555549 67555549 + Silent SNP C C G TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr15:67555549C>G ENST00000335894.4 + 3 330 c.264C>G c.(262-264)tcC>tcG p.S88S IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 33 CCCAGGCTTCCAAATGGTAAG 0.313000 0 SO:0001819 synonymous_variant ENST00000335894.4 1 1 hg19 CCDS32273.1 TCGA-HV-A5A4-01A-11D-A26I-08 IQCH-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256969.1 1 0 1 67 152 0 25 0 0 0 0 25 2 0 0 0 0 0 2 1 1.000000 67 151 0 25 2 0 0 0 0 25 2 -7.044731 1 1 0 0 1 0 1 1 1.991991 0 0.560000 2 0.558765 0.990000 0.870000 1.000000 1.000000 0.988028 0.990000 1 9.700000e-01 1 CACNA1H 8912 broad.mit.edu 37 16 1270897 1270897 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:1270897G>A ENST00000348261.5 + 35 7213 c.6965G>A c.(6964-6966)cGg>cAg p.R2322Q CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 34 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) GAGAAGAGGCGGGGGCTGTAC 0.652000 0 SO:0001583 missense ENST00000348261.5 1 1 hg19 CCDS45375.1 . . . . . . . . . . g 0.011000 -1.691971 0.007310 . . ENSG00000196557 ENST00000348261;ENST00000358590 D;D 0.96396 -4.0;-3.95 3.850000 -3.300000 0.050030 . 7739.210000 0.00166 N 0.000000 D 0.88618 0.6485 N 0.04508 -0.205 0.093100 N 1.000000 B;B;B;B;B 0.12013 0.002;0.001;0.001;0.005;0.001 B;B;B;B;B 0.04013 0.0;0.001;0.001;0.001;0.0 D 0.84117 0.0404 10 0.11182 T 0.66 . 9.910700 0.414030 0.7772:0.0:0.2228:0.0 . 1068;1046;1052;2316;2322 A2SX38;A2SX35;A2SX37;O95180-2;O95180 .;.;.;.;CAC1H_HUMAN Q 2322;2316 ENSP00000334198:R2322Q;ENSP00000351401:R2316Q ENSP00000334198:R2322Q R + 2 0 CACNA1H 1210898 0 0.058580 0 0.037020 0.017000 0.094130 -0.131000 0.104820 -0.593000 0.058440 -0.998000 0.025120 CGG TCGA-HV-A5A4-01A-11D-A26I-08 CACNA1H-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000421601.1 1 0 1 145 393 0 105 0 9.999989e-01 0 56 0 105 2 0 0 0 0 0 2 1 1.000000 141 381 0 99 2 0 0 0 0 105 2 -6.968456 1 1 0 0 1 1 2 3 2.023806 0 0.560000 2 0.562450 0.960000 0.830000 1.000000 1.000000 0.954969 0.960000 1 8.900000e-01 1 UMOD 7369 broad.mit.edu 37 16 20357476 20357476 + Missense_Mutation SNP C C T rs141355380 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:20357476C>T ENST00000570689.1 - 5 1300 c.1154G>A c.(1153-1155)cGg>cAg p.R385Q UMOD_ENST00000396134.2_Missense_Mutation_p.R418Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q P07911 UROM_HUMAN uromodulin 41 GGGGCCATCCCGGGCTGGGGT 0.587000 0 SO:0001583 missense ENST00000570689.1 1 1 hg19 CCDS10583.1 . . . . . . . . . . C 0.028000 -1.351257 0.012560 0.0 2.33E-4 ENSG00000169344 ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142 T;T;T;T 0.81415 -1.49;-1.49;-1.49;-1.49 4.850000 1.240000 0.213080 Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3); 0.284901 0.25117 N 0.033014 T 0.49474 0.1559 N 0.03050 -0.425 0.093100 N 0.999999 B;B 0.16603 0.018;0.001 B;B 0.18263 0.021;0.01 T 0.45308 -0.9270 10 0.02654 T 1 -14.2103 6.751600 0.234890 0.0:0.4899:0.0:0.5101 . 418;385 E9PEA4;P07911 .;UROM_HUMAN Q 385;418;418;385;363;385 ENSP00000379438:R418Q;ENSP00000416346:R418Q;ENSP00000306279:R385Q;ENSP00000379446:R385Q ENSP00000306279:R385Q R - 2 0 UMOD 20264977 2.500000e-02 0.190820 1.200000e-01 0.217140 0.279000 0.268900 -0.272000 0.085600 0.336000 0.236390 -0.424000 0.059670 CGG TCGA-HV-A5A4-01A-11D-A26I-08 UMOD-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436862.1 1 0 1 67 195 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 1.000000 67 195 0 37 2 0 0 0 0 37 2 -4.867557 1 1 121412 5 38 1 1 2 3 2.006756 0 0.560000 2 0.561229 0.910000 0.730000 1.000000 1.000000 0.908366 0.910000 1 8.100000e-01 1 TRADD 8717 broad.mit.edu 37 16 67189164 67189164 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr16:67189164G>T ENST00000345057.4 - 4 931 c.463C>A c.(463-465)Ctg>Atg p.L155M TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.L95M NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 11 Ovarian(137;0.0563) GCATCCTCCAGCTCAGCCAGT 0.692000 0 SO:0001583 missense ENST00000345057.4 1 1 hg19 CCDS10829.1 . . . . . . . . . . G 10.520000 1.372993 0.248570 . . ENSG00000102871 ENST00000345057 . . . 5.250000 2.140000 0.274770 TRADD, N-terminal (4); 0.000000 0.64402 D 0.000002 T 0.67951 0.2948 L 0.61218 1.895 0.401420 D 0.976847 D 0.76494 0.999 D 0.87578 0.998 T 0.67173 -0.5737 9 0.66056 D 0.02 -16.4405 7.194100 0.258430 0.2817:0.0:0.7183:0.0 . 155 Q15628 TRADD_HUMAN M 155 . ENSP00000341268:L155M L - 1 2 TRADD 65746665 9.970000e-01 0.396340 9.860000e-01 0.454190 0.268000 0.265110 1.890000 0.397280 0.517000 0.283610 0.448000 0.294170 CTG TCGA-HV-A5A4-01A-11D-A26I-08 TRADD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268841.2 1 0 0 24 32 0 17 1 1 54 34 0 17 2 0 0 0 0 0 2 1 1.000000 23 31 0 17 2 0 0 0 0 17 2 -20.000000 1 1 0 0 1 0 1 1 1.453218 1 0.560000 2 0.388889 0.910000 0.700000 1.000000 0.990000 0.901766 0.910000 1 8.100000e-01 9.800000e-01 GFAP 2670 broad.mit.edu 37 17 42992592 42992592 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:42992592C>T ENST00000253408.5 - 1 328 c.263G>A c.(262-264)cGc>cAc p.R88H GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 23 Prostate(33;0.0959) TTCCAGGAAGCGAACCTTCTC 0.607000 0 SO:0001583 missense ENST00000253408.5 1 1 hg19 CCDS11491.1 . . . . . . . . . . C 19.520000 3.843111 0.714880 . . ENSG00000131095 ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990 D;D;D 0.91843 -2.92;-2.92;-2.92 4.690000 4.690000 0.590740 Filament (1); 0.000000 0.85682 D 0.000000 D 0.94958 0.8369 L 0.58810 1.83 0.807220 D 1.000000 D;P 0.89917 1.0;0.797 D;P 0.69824 0.966;0.499 D 0.95295 0.8398 10 0.72032 D 0.01 . 17.773600 0.885000 0.0:1.0:0.0:0.0 . 88;88 E9PAX3;P14136 .;GFAP_HUMAN H 88;63;88;88 ENSP00000253408:R88H;ENSP00000403962:R88H;ENSP00000366189:R88H ENSP00000253408:R88H R - 2 0 GFAP 40348118 1 0.714170 1 0.803570 0.982000 0.717510 7.609000 0.829250 2.609000 0.882690 0.462000 0.415740 CGC TCGA-HV-A5A4-01A-11D-A26I-08 GFAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448701.1 0 0 1 91 305 0 56 0 0 0 1 0 56 2 0 0 0 0 0 2 1 1.000000 89 300 0 56 2 0 0 0 0 56 2 -20.000000 1 1 121412 4 36 1 1 2 3 2.021484 0 0.560000 2 0.562450 0.820000 0.670000 1.000000 0.820000 0.829805 0.820000 0 7.400000e-01 9.100000e-01 GAA 2548 broad.mit.edu 37 17 78086379 78086379 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:78086379C>T ENST00000302262.3 + 13 1976 c.1757C>T c.(1756-1758)gCg>gTg p.A586V GAA_ENST00000390015.3_Missense_Mutation_p.A586V NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284)|Miglitol(DB00491) CACCCCAGGGCGCTGGTGAAG 0.682000 0 SO:0001583 missense ENST00000302262.3 1 1 hg19 CCDS32760.1 . . . . . . . . . . C 19.420000 3.823727 0.711430 . . ENSG00000171298 ENST00000302262;ENST00000390015 D;D 0.92348 -3.02;-3.02 4.560000 4.560000 0.562230 Glycoside hydrolase, superfamily (1); 0.113983 0.64402 D 0.000017 D 0.95746 0.8616 M 0.83692 2.655 0.584320 D 0.999996 D 0.67145 0.996 D 0.64321 0.924 D 0.96539 0.9399 10 0.87932 D 0 -31.9547 16.071500 0.809400 0.0:1.0:0.0:0.0 . 586 P10253 LYAG_HUMAN V 586 ENSP00000305692:A586V;ENSP00000374665:A586V ENSP00000305692:A586V A + 2 0 GAA 75700974 1 0.714170 9.640000e-01 0.405700 0.013000 0.082790 7.628000 0.831890 2.068000 0.618860 0.561000 0.740990 GCG TCGA-HV-A5A4-01A-11D-A26I-08 GAA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437441.1 1 0 1 58 157 0 32 1 1 12 114 0 32 2 0 0 0 0 0 2 1 1.000000 57 155 0 32 2 0 0 0 0 32 2 -20.000000 1 1 121308 2 35 1 1 2 3 2.021484 0 0.560000 2 0.562450 0.960000 0.760000 1.000000 1.000000 0.942329 0.960000 1 8.600000e-01 1 RNF213 57674 broad.mit.edu 37 17 78282819 78282819 + Splice_Site SNP A A T rs143170125 TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 A T A A Valid Somatic Phase_I WXS targeted Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr17:78282819A>T ENST00000582970.1 + 14 2646 c.2503A>T c.(2503-2505)Att>Ttt p.I835F RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000456466.1_Splice_Site_p.I835F NM_001256071.1 NP_001243000.1 Q63HN8 RN213_HUMAN ring finger protein 213 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCGGGGCAGGATTCCCGAGGA 0.478000 0 SO:0001630 splice_region_variant ENST00000582970.1 0 1 hg19 CCDS58606.1 . . . . . . . . . . A 10.630000 1.404440 0.253780 . . ENSG00000173821 ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921 T;T 0.13538 2.58;2.58 5.380000 -4.180000 0.038460 . 0.582430 0.16075 N 0.230818 T 0.22551 0.0544 L 0.60455 1.87 0.093100 N 1.000000 D;D 0.67145 0.993;0.996 P;D 0.65010 0.878;0.931 T 0.04467 -1.0949 10 0.62326 D 0.03 -8.6268 7.225900 0.260160 0.2421:0.2827:0.4752:0.0 . 835;835 Q9HCF4;Q9HCF4-2 ALO17_HUMAN;. F 835;884;835;835 ENSP00000392123:I835F;ENSP00000324392:I835F ENSP00000324392:I835F I + 1 0 RNF213 75897414 3.900000e-01 0.252130 0 0.037020 0.004000 0.042600 0.107000 0.153750 -0.398000 0.076790 0.533000 0.621200 ATT TCGA-HV-A5A4-01A-11D-A26I-08 RNF213-020 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000443298.1 0 0 0 153 469 0 77 1 8.645865e-01 4 9 0 77 2 1 1 246 597 0 656 2 1 1.000000 152 465 0 76 2 0 0 0 0 77 2 -20.000000 1 0 0 0 1 1 2 3 2.021484 0 0.560000 2 0.562450 0.880000 0.760000 1.000000 0.880000 0.885445 0.880000 1 8.100000e-01 9.500000e-01 NPC1 4864 broad.mit.edu 37 18 21136301 21136301 + Missense_Mutation SNP C C T rs77080672 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:21136301C>T ENST00000269228.5 - 8 1786 c.1232G>A c.(1231-1233)cGg>cAg p.R411Q NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAGAGGGGCCCGGATGATGAG 0.557000 0 SO:0001583 missense ENST00000269228.5 1 1 hg19 CCDS11878.1 5 0.0022893772893772895 4 0.008130081300813009 0 0.0 1 0.0017482517482517483 0 0.0 C 10.600000 1.395669 0.252050 0.005901 0.0 ENSG00000141458 ENST00000269228;ENST00000412552;ENST00000540608 D;D 0.88431 -2.38;-2.38 5.450000 -6.010000 0.021990 . 0.659654 0.15769 N 0.245512 T 0.66567 0.2802 N 0.11560 0.145 0.093100 N 1.000000 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.53514 -0.8428 10 0.19147 T 0.46 -6.5932 13.467800 0.612660 0.0:0.1727:0.0923:0.735 . 422;411 Q59GR1;O15118 .;NPC1_HUMAN Q 411;161;256 ENSP00000269228:R411Q;ENSP00000408606:R161Q ENSP00000269228:R411Q R - 2 0 NPC1 19390299 4.000000e-02 0.199960 2.170000e-01 0.237590 0.982000 0.717510 0.001000 0.130380 -1.632000 0.015410 -0.137000 0.144490 CGG TCGA-HV-A5A4-01A-11D-A26I-08 NPC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254823.2 1 0 1 87 267 0 51 1 9.854672e-01 7 16 0 51 2 0 0 0 0 0 2 1 1.000000 88 265 0 50 2 0 0 0 0 51 2 -2.841094 1 1 0 0 1 0 0 0 1.923068 0 0.560000 2 0.539363 0.830000 0.680000 0.990000 0.840000 0.840485 0.830000 0 7.500000e-01 9.200000e-01 SMAD4 4089 broad.mit.edu 37 18 48604736 48604736 + Nonsense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr18:48604736G>T ENST00000342988.3 + 12 2096 c.1558G>T c.(1558-1560)Gaa>Taa p.E520* SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.?(2)|p.E520*(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) GAGCATCAAAGAAACACCTTG 0.488000 39 Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000342988.3 0 1 hg19 CCDS11950.1 . . . . . . . . . . G 42.000000 9.212720 0.991010 . . ENSG00000141646 ENST00000342988;ENST00000398417 . . . 6.080000 5.210000 0.722930 . 0.097880 0.64402 D 0.000002 . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.62326 D 0.03 . 14.538500 0.679790 0.0714:0.0:0.9286:0.0 . . . . X 520 . ENSP00000341551:E520X E + 1 0 SMAD4 46858734 1 0.714170 9.860000e-01 0.454190 0.978000 0.694770 7.414000 0.801170 1.582000 0.498810 0.655000 0.942530 GAA TCGA-HV-A5A4-01A-11D-A26I-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 1 124 204 0 46 1 1 25 36 0 46 2 1 1 253 371 0 692 2 1 1.000000 124 201 0 46 2 0 0 0 0 46 2 -20.000000 1 1 0 0 1 0 1 1 1.429926 1 0.560000 2 0.391256 0.940000 0.820000 1.000000 1.000000 0.940809 0.940000 1 8.800000e-01 9.900000e-01 TJP3 27134 broad.mit.edu 37 19 3740730 3740730 + Silent SNP C C T rs139746746 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:3740730C>T ENST00000541714.2 + 14 2274 c.1812C>T c.(1810-1812)taC>taT p.Y604Y TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000382008.3_Silent_p.Y618Y NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 26 AGGGCCGCTACCCGCCCTACG 0.667000 0 SO:0001819 synonymous_variant ENST00000541714.2 1 1 hg19 CCDS32873.2 TCGA-HV-A5A4-01A-11D-A26I-08 TJP3-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000453434.1 1 0 1 45 165 0 53 1 1 89 124 0 53 2 0 0 0 0 0 2 1 1.000000 44 163 0 51 2 0 0 0 0 53 2 -20.000000 1 1 121198 26 42 1 1 2 3 2.032916 0 0.560000 2 0.562450 0.760000 0.580000 1.000000 0.760000 0.777863 0.760000 0 6.700000e-01 8.800000e-01 PLIN4 729359 broad.mit.edu 37 19 4513275 4513275 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:4513275C>T ENST00000301286.3 - 3 654 c.655G>A c.(655-657)Ggc>Agc p.G219S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 41 TCTTTGGTGCCGGTCAGCACA 0.577000 0 SO:0001583 missense ENST00000301286.3 1 1 hg19 CCDS45927.1 . . . . . . . . . . C 14.740000 2.625887 0.468400 . . ENSG00000167676 ENST00000301286 T 0.15256 2.44 5.010000 5.010000 0.668630 . 0.000000 0.53938 D 0.000057 T 0.43897 0.1268 M 0.80982 2.52 0.350750 D 0.762835 D 0.89917 1.0 D 0.97110 1.0 T 0.60393 -0.7272 10 0.66056 D 0.02 -30.3146 13.817100 0.632990 0.0:1.0:0.0:0.0 . 219 Q96Q06 PLIN4_HUMAN S 219 ENSP00000301286:G219S ENSP00000301286:G219S G - 1 0 PLIN4 4464275 1.000000e-03 0.127200 9.000000e-01 0.353740 0.006000 0.054640 0.305000 0.192540 2.313000 0.780550 0.561000 0.740990 GGC TCGA-HV-A5A4-01A-11D-A26I-08 PLIN4-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395095.1 1 0 1 274 783 0 134 0 0 1 0 0 134 2 0 0 0 0 0 2 1 1.000000 273 777 0 134 2 0 0 0 0 134 2 -8.731358 1 1 121110 1 38 1 1 2 3 2.032916 0 0.560000 2 0.562450 0.920000 0.830000 1.000000 1.000000 0.930678 0.920000 1 8.700000e-01 9.800000e-01 KLK2 3817 broad.mit.edu 37 19 51378013 51378013 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:51378013G>T ENST00000325321.3 + 2 308 c.83G>T c.(82-84)gGc>gTc p.G28V KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000391810.2_Intron P20151 KLK2_HUMAN kallikrein-related peptidase 2 KLK2/ETV1(3)|KLK2/ETV4(2) 11 all_neural(266;0.026) ATTGTGGGAGGCTGGGAGTGT 0.622000 T ETV4 prostate Dom yes 19 19q13.41 3817 kallikrein-related peptidase 2 E 0 SO:0001583 missense ENST00000325321.3 1 1 hg19 CCDS12808.1 . . . . . . . . . . G 17.010000 3.280438 0.597580 . . ENSG00000167751 ENST00000325321;ENST00000358049 T;T 0.61392 0.11;0.11 2.460000 2.460000 0.299800 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.000000 0.35646 N 0.003067 T 0.81163 0.4765 H 0.95917 3.74 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.85452 0.1161 10 0.87932 D 0 . 11.042900 0.478420 0.0:0.0:1.0:0.0 . 28;28 P20151-2;P20151 .;KLK2_HUMAN V 28 ENSP00000313581:G28V;ENSP00000350748:G28V ENSP00000313581:G28V G + 2 0 KLK2 56069825 9.990000e-01 0.422020 1.040000e-01 0.212590 0.171000 0.227310 3.232000 0.513020 1.306000 0.449260 0.455000 0.322230 GGC TCGA-HV-A5A4-01A-11D-A26I-08 KLK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464438.3 1 0 1 85 257 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 1.000000 85 253 0 50 2 0 0 0 0 50 2 -20.000000 1 1 0 0 1 1 2 3 2.024108 0 0.560000 2 0.562450 0.890000 0.730000 1.000000 1.000000 0.892192 0.890000 1 8.000000e-01 9.800000e-01 PEG3 5178 broad.mit.edu 37 19 57327380 57327380 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr19:57327380G>A ENST00000326441.9 - 10 2793 c.2430C>T c.(2428-2430)ttC>ttT p.F810F PEG3_ENST00000598410.1_Silent_p.F686F|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 p.F810F(2) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) TGATAGCATCGAAGCTCTGAA 0.468000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000326441.9 1 1 hg19 CCDS12948.1 TCGA-HV-A5A4-01A-11D-A26I-08 PEG3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416099.2 1 0 0 299 800 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 1.000000 298 792 0 91 2 0 0 0 0 91 2 -11.618940 1 1 0 0 1 1 2 3 2.039655 0 0.560000 2 0.564873 0.970000 0.880000 1.000000 1.000000 0.971773 0.970000 1 9.300000e-01 1 PTCHD2 57540 broad.mit.edu 37 1 11596541 11596541 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:11596541C>T ENST00000294484.6 + 21 4115 c.3977C>T c.(3976-3978)aCg>aTg p.T1326M PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M|PTCHD2_ENST00000304391.6_Silent_p.H212H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) GCACTCAACACGGGCGTGTCC 0.607000 0 SO:0001583 missense ENST00000294484.6 1 1 hg19 CCDS41247.1 . . . . . . . . . . C 22.000000 4.236822 0.798000 . . ENSG00000204624 ENST00000294484;ENST00000389575 D;D 0.91180 -2.8;-1.95 4.780000 4.780000 0.611600 Membrane transport protein, MMPL type (1); 0.000000 0.85682 D 0.000000 D 0.93439 0.7907 L 0.55834 1.745 0.584320 D 0.999990 D 0.89917 1.0 D 0.97110 1.0 D 0.91570 0.5271 10 0.22109 T 0.4 -9.8263 16.833200 0.859500 0.0:1.0:0.0:0.0 . 1326 Q9P2K9 PTHD2_HUMAN M 1326 ENSP00000294484:T1326M;ENSP00000374226:T1326M ENSP00000294484:T1326M T + 2 0 PTCHD2 11519128 1 0.714170 9.670000e-01 0.410340 0.979000 0.700020 4.789000 0.624460 2.214000 0.716950 0.561000 0.740990 ACG TCGA-HV-A5A4-01A-11D-A26I-08 PTCHD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000005770.2 1 0 1 107 263 0 72 0 8.483957e-02 0 2 0 72 2 0 0 0 0 0 2 1 1.000000 107 260 0 72 2 0 0 0 0 72 2 -20.000000 1 1 121374 3 37 1 1 2 3 2.021444 0 0.560000 2 0.562450 0.990000 0.870000 1.000000 1.000000 0.983100 0.990000 1 9.500000e-01 1 TNFAIP8L2 79626 broad.mit.edu 37 1 151131265 151131265 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 T C T T Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:151131265T>C ENST00000368910.3 + 2 218 c.92T>C c.(91-93)aTa>aCa p.I31T NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CATCTCTTCATAGATGAGACA 0.567000 0 SO:0001583 missense ENST00000368910.3 1 1 hg19 CCDS985.1 . . . . . . . . . . T 15.910000 2.971377 0.536140 . . ENSG00000163154 ENST00000368910 T 0.38240 1.15 5.670000 4.550000 0.560140 . 0.154981 0.56097 D 0.000023 T 0.24967 0.0606 M 0.62209 1.925 0.584320 D 0.999997 B 0.21147 0.052 B 0.32677 0.15 T 0.12243 -1.0555 10 0.66056 D 0.02 -0.0065 10.754300 0.462280 0.0:0.0756:0.0:0.9244 . 31 Q6P589 TP8L2_HUMAN T 31 ENSP00000357906:I31T ENSP00000357906:I31T I + 2 0 TNFAIP8L2 149397889 1 0.714170 3.960000e-01 0.262960 0.981000 0.711380 6.301000 0.727820 0.979000 0.384970 0.533000 0.621200 ATA TCGA-HV-A5A4-01A-11D-A26I-08 TNFAIP8L2-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034069.2 1 0 1 225 295 0 40 0 9.954511e-01 0 14 0 40 2 0 0 0 0 0 2 1 1.000000 223 291 0 40 2 0 0 0 0 40 2 -20.000000 1 1 121412 1 30 1 1 2 3 2.525127 1 0.560000 2 0.654739 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 AQP10 89872 broad.mit.edu 37 1 154296116 154296116 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:154296116C>T ENST00000324978.3 + 5 581 c.541C>T c.(541-543)Cgg>Tgg p.R181W ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR NM_080429.2 NP_536354.2 Q96PS8 AQP10_HUMAN aquaporin 10 p.R181W(2) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCTGGACAGACGGAACAAGGG 0.612000 2 Substitution - Missense(2) SO:0001583 missense ENST00000324978.3 1 1 hg19 CCDS1065.1 . . . . . . . . . . C 15.640000 2.894226 0.521210 . . ENSG00000143595 ENST00000324978;ENST00000484864 D;D 0.85955 -2.05;-2.05 4.900000 1.670000 0.240750 Aquaporin-like (2); 0.410133 0.24642 N 0.036791 D 0.90542 0.7036 H 0.95043 3.615 0.093100 N 1.000000 D;D 0.67145 0.996;0.994 P;P 0.59889 0.742;0.865 D 0.84976 0.0885 10 0.66056 D 0.02 . 12.930000 0.582820 0.5075:0.4925:0.0:0.0 . 181;181 Q96PS8-2;Q96PS8 .;AQP10_HUMAN W 181 ENSP00000318355:R181W;ENSP00000420341:R181W ENSP00000318355:R181W R + 1 2 AQP10 152562740 3.000000e-03 0.150020 1.090000e-01 0.214070 0.949000 0.601150 0.450000 0.217620 0.639000 0.305640 0.555000 0.697020 CGG TCGA-HV-A5A4-01A-11D-A26I-08 AQP10-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087661.1 1 0 1 548 821 0 136 1 1.605253e-01 2 0 0 136 2 0 0 0 0 0 2 1 1.000000 544 814 0 135 2 0 0 0 0 136 2 -20.000000 1 1 121412 6 39 1 1 2 3 2.525127 1 0.560000 2 0.654739 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 DCST1 149095 broad.mit.edu 37 1 155007014 155007014 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr1:155007014C>T ENST00000295542.1 + 3 261 c.165C>T c.(163-165)ggC>ggT p.G55G DCST1_ENST00000392480.1_Silent_p.G55G|DCST1_ENST00000368419.2_Silent_p.G55G|DCST2_ENST00000368424.3_5'Flank|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Silent_p.G55G NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGGGGGCAGGCGCTGGGGGGC 0.642000 0 SO:0001819 synonymous_variant ENST00000295542.1 1 0 hg19 CCDS1083.1 TCGA-HV-A5A4-01A-11D-A26I-08 DCST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000099006.1 1 0 1 177 893 0 111 0 2.608006e-01 0 6 0 111 2 0 0 0 0 0 2 1 1.000000 174 881 0 111 2 0 0 0 0 111 2 -20.000000 1 1 0 0 1 1 2 3 2.525127 1 0.560000 2 0.654739 0.750000 0.640000 0.870000 0.750000 0.757765 0.750000 0 6.900000e-01 8.100000e-01 PES1 23481 broad.mit.edu 37 22 30975143 30975143 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr22:30975143T>C ENST00000405677.1 - 15 2028 c.1085A>G c.(1084-1086)gAg>gGg p.E362G PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000402281.1_Missense_Mutation_p.E362G NM_001282328.1 NP_001269257.1 pescadillo ribosomal biogenesis factor 1 29 CATCCTCTGCTCTTCCAGGGC 0.602000 0 SO:0001583 missense ENST00000405677.1 1 1 hg19 . . . . . . . . . . T 12.590000 1.982573 0.349420 . . ENSG00000100029 ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214 T;T;T;T;T 0.34472 1.36;1.36;1.36;1.36;1.36 4.020000 4.020000 0.467330 . 0.584696 0.17257 N 0.180925 T 0.40272 0.1110 M 0.81942 2.565 0.807220 D 1.000000 B;B;B;B 0.16603 0.008;0.018;0.013;0.008 B;B;B;B 0.17098 0.007;0.011;0.017;0.007 T 0.35176 -0.9799 10 0.42905 T 0.14 -12.7264 9.766700 0.405650 0.0:0.0:0.2307:0.7693 . 501;484;496;501 B2RDF2;B5MCF9;O00541-2;O00541 .;.;.;PESC_HUMAN G 501;362;362;484;496 ENSP00000346725:E501G;ENSP00000384366:E362G;ENSP00000385654:E362G;ENSP00000384252:E484G;ENSP00000334612:E496G ENSP00000334612:E496G E - 2 0 PES1 29305143 6.800000e-02 0.210570 1 0.803570 0.905000 0.533440 1.076000 0.307290 1.591000 0.500070 0.379000 0.241790 GAG TCGA-HV-A5A4-01A-11D-A26I-08 PES1-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000321189.2 1 0 0 46 103 0 19 1 1 75 148 0 19 2 0 0 0 0 0 2 1 1.000000 46 103 0 19 2 0 0 0 0 19 2 -20.000000 1 1 0 0 1 1 2 3 2.020961 0 0.560000 2 0.562450 0.990000 0.850000 1.000000 1.000000 0.985653 0.990000 1 9.700000e-01 1 TTN 7273 broad.mit.edu 37 2 179599224 179599224 + Missense_Mutation SNP G G C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr2:179599224G>C ENST00000591111.1 - 50 14600 c.14376C>G c.(14374-14376)ttC>ttG p.F4792L TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5109L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTGTCTTTGAACCAGCTAA 0.383000 0 SO:0001583 missense ENST00000591111.1 1 1 hg19 . . . . . . . . . . G 10.640000 1.405691 0.253780 . . ENSG00000155657 ENST00000342992 T 0.69685 -0.42 5.760000 2.580000 0.309490 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.51415 0.1673 L 0.31804 0.96 0.807220 D 1.000000 B 0.12013 0.005 B 0.14578 0.011 T 0.50013 -0.8877 9 0.87932 D 0 . 7.701000 0.286230 0.4401:0.0:0.5599:0.0 . 4792 Q8WZ42 TITIN_HUMAN L 3865 ENSP00000343764:F3865L ENSP00000343764:F3865L F - 3 2 TTN 179307469 1 0.714170 1 0.803570 0.997000 0.918780 1.267000 0.330500 0.761000 0.331300 0.563000 0.778840 TTC TCGA-HV-A5A4-01A-11D-A26I-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 1 0 1 154 488 0 63 0 0 0 0 63 2 0 0 0 0 0 2 1 1.000000 154 488 0 62 2 0 0 0 0 63 2 -20.000000 1 1 0 0 1 0 0 0 1.999884 0 0.560000 2 0.560000 0.850000 0.730000 0.970000 0.860000 0.858273 0.850000 1 7.900000e-01 9.200000e-01 STXBP5L 9515 broad.mit.edu 37 3 120673880 120673880 + Nonsense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:120673880C>T ENST00000273666.6 + 3 554 c.283C>T c.(283-285)Cga>Tga p.R95* STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95* NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 68 AGGTGCTATACGAATGTATCC 0.363000 0 SO:0001587 stop_gained ENST00000273666.6 0 1 hg19 CCDS43137.1 . . . . . . . . . . C 28.300000 4.910776 0.921780 . . ENSG00000145087 ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262 . . . 5.550000 2.530000 0.305400 . 0.000000 0.56097 D 0.000034 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 -28.3558 12.379800 0.553010 0.4358:0.5642:0.0:0.0 . . . . X 95 . ENSP00000273666:R95X R + 1 2 STXBP5L 122156570 1 0.714170 1 0.803570 0.962000 0.633680 1.116000 0.312210 0.648000 0.307320 -0.314000 0.088100 CGA TCGA-HV-A5A4-01A-11D-A26I-08 STXBP5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355256.3 1 0 0 76 169 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 1.000000 75 166 0 18 2 0 0 0 0 19 2 -20.000000 1 1 0 0 1 0 0 0 1.997110 0 0.560000 2 0.560000 0.990000 0.900000 1.000000 1.000000 0.992445 0.990000 1 9.900000e-01 1 FYCO1 79443 broad.mit.edu 37 3 46008034 46008034 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:46008034T>C ENST00000296137.2 - 8 2997 c.2792A>G c.(2791-2793)cAg>cGg p.Q931R FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 54 CTGGAGCTCCTGGACAGCACA 0.627000 0 SO:0001583 missense ENST00000296137.2 1 1 hg19 CCDS2734.1 . . . . . . . . . . T 0.969000 -0.700659 0.032790 . . ENSG00000163820 ENST00000296137;ENST00000535325 T;T 0.78481 -1.18;-1.18 5.170000 1.530000 0.231410 . 0.305477 0.32081 N 0.006616 T 0.67192 0.2867 L 0.50919 1.6 0.093100 N 1.000000 B;B 0.13145 0.007;0.005 B;B 0.10450 0.005;0.002 T 0.53975 -0.8362 10 0.31617 T 0.26 -12.6091 7.646200 0.283210 0.0:0.2406:0.0:0.7594 . 931;931 B7ZKT7;Q9BQS8 .;FYCO1_HUMAN R 931 ENSP00000296137:Q931R;ENSP00000441178:Q931R ENSP00000296137:Q931R Q - 2 0 FYCO1 45983038 5.400000e-02 0.205910 9.410000e-01 0.380090 0.062000 0.159950 0.895000 0.283630 0.307000 0.228800 0.533000 0.621200 CAG TCGA-HV-A5A4-01A-11D-A26I-08 FYCO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257320.2 1 0 1 52 436 0 71 0 7.968182e-01 1 26 0 71 2 0 0 0 0 0 2 1 1.000000 51 435 0 71 2 0 0 0 0 71 2 -17.863500 1 1 0 0 1 0 0 0 1.997110 0 0.560000 2 0.560000 0.370000 0.280000 0.480000 0.380000 0.385664 0.370000 0 3.300000e-01 4.300000e-01 PRKCD 5580 broad.mit.edu 37 3 53218900 53218900 + Missense_Mutation SNP G G T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:53218900G>T ENST00000394729.2 + 9 1126 c.798G>T c.(796-798)atG>atT p.M266I PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 26 Ovarian(412;0.0728) Ingenol Mebutate(DB05013)|Tamoxifen(DB00675) ACTGCGGCATGAATGTGCACC 0.597000 0 SO:0001583 missense ENST00000394729.2 1 1 hg19 CCDS2870.1 . . . . . . . . . . G 19.860000 3.904970 0.728680 . . ENSG00000163932 ENST00000394729;ENST00000330452;ENST00000464818 D;D;D 0.84298 -1.83;-1.83;-1.83 5.910000 5.910000 0.952730 Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1); 0.000000 0.85682 D 0.000000 D 0.84388 0.5461 L 0.29908 0.895 0.807220 D 1.000000 B;B 0.29188 0.236;0.05 B;B 0.41174 0.349;0.093 T 0.82424 -0.0464 10 0.59425 D 0.04 . 19.070000 0.931300 0.0:0.0:1.0:0.0 . 43;266 B0KZ81;Q05655 .;KPCD_HUMAN I 266;266;194 ENSP00000378217:M266I;ENSP00000331602:M266I;ENSP00000419629:M194I ENSP00000331602:M266I M + 3 0 PRKCD 53193940 1 0.714170 1 0.803570 0.975000 0.680410 9.869000 0.998100 2.793000 0.961210 0.655000 0.942530 ATG TCGA-HV-A5A4-01A-11D-A26I-08 PRKCD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257818.1 1 0 1 105 374 0 89 1 1 45 82 0 89 2 0 0 0 0 0 2 1 1.000000 103 369 0 89 2 0 0 0 0 89 2 -20.000000 1 0 0 0 1 0 0 0 1.997110 0 0.560000 2 0.560000 0.770000 0.650000 0.910000 0.780000 0.785730 0.770000 0 7.100000e-01 8.500000e-01 PDZRN3 23024 broad.mit.edu 37 3 73433778 73433778 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr3:73433778G>A ENST00000263666.4 - 10 2053 c.1939C>T c.(1939-1941)Cgc>Tgc p.R647C PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) AGGAGCTCGCGGAAGCGCTCG 0.662000 0 SO:0001583 missense ENST00000263666.4 1 1 hg19 CCDS33789.1 . . . . . . . . . . G 17.630000 3.438370 0.629550 . . ENSG00000121440 ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909 T;T;T;T;T;T 0.13901 2.55;3.25;3.14;3.14;3.26;3.21 4.280000 4.280000 0.508680 . 0.058403 0.64402 D 0.000002 T 0.35038 0.0918 M 0.71036 2.16 0.807220 D 1.000000 D;D;D;D 0.76494 0.997;0.997;0.999;0.997 D;P;P;P 0.64321 0.924;0.739;0.901;0.739 T 0.24512 -1.0158 10 0.87932 D 0 . 16.521500 0.843180 0.0:0.0:1.0:0.0 . 369;364;364;647 F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7 .;.;.;PZRN3_HUMAN C 647;369;304;304;364;345 ENSP00000263666:R647C;ENSP00000442026:R369C;ENSP00000418168:R304C;ENSP00000418484:R304C;ENSP00000418624:R364C;ENSP00000419250:R345C ENSP00000263666:R647C R - 1 0 PDZRN3 73516468 1 0.714170 1 0.803570 0.998000 0.957120 4.857000 0.629390 2.212000 0.715760 0.655000 0.942530 CGC TCGA-HV-A5A4-01A-11D-A26I-08 PDZRN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352460.1 1 0 1 223 520 0 128 0 9.999699e-01 0 38 0 128 2 0 0 0 0 0 2 1 1.000000 220 515 0 126 2 0 0 0 0 128 2 -13.161310 1 1 0 0 1 0 0 0 1.997110 0 0.560000 2 0.560000 0.990000 0.950000 1.000000 1.000000 0.996789 0.990000 1 9.900000e-01 1 DKK2 27123 broad.mit.edu 37 4 107845202 107845202 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr4:107845202C>T ENST00000285311.3 - 4 1394 c.689G>A c.(688-690)cGt>cAt p.R230H DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 p.R230H(3) 32 Hepatocellular(203;0.217) ACAGTCGCAACGCTGGAAAAT 0.488000 3 Substitution - Missense(3) SO:0001583 missense ENST00000285311.3 1 1 hg19 CCDS3675.1 . . . . . . . . . . C 28.200000 4.897895 0.919620 . . ENSG00000155011 ENST00000285311;ENST00000513208;ENST00000510463 T;T;T 0.57595 0.39;0.52;0.54 5.640000 5.640000 0.866020 . 0.000000 0.85682 D 0.000000 T 0.75361 0.3839 M 0.81341 2.54 0.807220 D 1.000000 D 0.76494 0.999 D 0.73380 0.98 T 0.77051 -0.2731 10 0.59425 D 0.04 -11.8314 19.687600 0.959860 0.0:1.0:0.0:0.0 . 230 Q9UBU2 DKK2_HUMAN H 230;130;184 ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H ENSP00000285311:R230H R - 2 0 DKK2 108064651 1 0.714170 1 0.803570 0.692000 0.402120 7.487000 0.813280 2.657000 0.903040 0.585000 0.799380 CGT TCGA-HV-A5A4-01A-11D-A26I-08 DKK2-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253959.4 1 0 1 192 571 0 78 0 2.658525e-01 0 4 0 78 2 0 0 0 0 0 2 1 1.000000 191 570 0 78 2 0 0 0 0 78 2 -20.000000 1 1 0 0 1 1 2 3 2.009687 0 0.560000 2 0.561229 0.890000 0.780000 1.000000 0.900000 0.901519 0.890000 1 8.400000e-01 9.600000e-01 PDGFRB 5159 broad.mit.edu 37 5 149513526 149513526 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:149513526C>T ENST00000261799.4 - 5 1146 c.677G>A c.(676-678)cGc>cAc p.R226H NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCACCCTGGCGGACCACAGT 0.542000 T ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP MPD, AML, CMML, CML Dom yes 5 5q31-q32 5159 platelet-derived growth factor receptor, beta polypeptide L 0 SO:0001583 missense ENST00000261799.4 1 1 hg19 CCDS4303.1 . . . . . . . . . . C 25.000000 4.595320 0.869530 . . ENSG00000113721 ENST00000261799 T 0.13307 2.6 5.930000 5.930000 0.959200 Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.56097 D 0.000040 T 0.22627 0.0546 L 0.33753 1.03 0.335790 D 0.599595 B;D;D 0.76494 0.134;0.995;0.999 B;P;P 0.58210 0.015;0.835;0.813 T 0.06807 -1.0806 10 0.56958 D 0.05 . 14.484400 0.676060 0.0:0.9302:0.0:0.0698 . 226;226;226 B5A957;A8KAM8;P09619 .;.;PGFRB_HUMAN H 226 ENSP00000261799:R226H ENSP00000261799:R226H R - 2 0 PDGFRB 149493719 9.960000e-01 0.388240 1 0.803570 0.962000 0.633680 2.085000 0.416340 2.814000 0.968580 0.563000 0.778840 CGC TCGA-HV-A5A4-01A-11D-A26I-08 PDGFRB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252332.1 1 0 1 107 355 0 44 0 1 0 194 0 44 2 0 0 0 0 0 2 1 1.000000 106 352 0 43 2 0 0 0 0 44 2 -4.326728 1 1 0 0 1 0 0 0 2.000883 0 0.560000 2 0.560000 0.820000 0.690000 0.960000 0.820000 0.829616 0.820000 0 7.500000e-01 9.000000e-01 ATP10B 23120 broad.mit.edu 37 5 160063232 160063232 + Missense_Mutation SNP A A T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:160063232A>T ENST00000327245.5 - 11 1931 c.1085T>A c.(1084-1086)cTt>cAt p.L362H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGCCCCCAAGGGCACTGGG 0.522000 0 SO:0001583 missense ENST00000327245.5 1 0 hg19 CCDS43394.1 . . . . . . . . . . A 16.850000 3.236676 0.588860 . . ENSG00000118322 ENST00000327245 D 0.88818 -2.43 5.180000 5.180000 0.714440 ATPase, P-type, ATPase-associated domain (1); 0.072522 0.56097 D 0.000029 D 0.94853 0.8337 M 0.88241 2.94 0.584320 D 0.999998 D;D;D;D 0.76494 0.998;0.967;0.999;0.999 D;P;D;D 0.71870 0.967;0.881;0.967;0.975 D 0.95432 0.8517 9 . . . . 14.542600 0.680050 1.0:0.0:0.0:0.0 . 406;362;334;362 B4DHG1;O94823-2;O94823-3;O94823 .;.;.;AT10B_HUMAN H 362 ENSP00000313600:L362H . L - 2 0 ATP10B 159995810 1 0.714170 1.400000e-01 0.222210 0.752000 0.427620 5.287000 0.656450 2.087000 0.629580 0.454000 0.307480 CTT TCGA-HV-A5A4-01A-11D-A26I-08 ATP10B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374127.1 1 0 0 38 250 0 44 0 5.026565e-02 0 3 0 44 2 0 0 0 0 0 2 1 1.000000 49 249 0 44 2 0 0 0 0 44 2 -20.000000 1 0 0 0 1 0 0 0 2.000883 0 0.560000 2 0.560000 0.470000 0.340000 0.620000 0.470000 0.478979 0.470000 0 4.000000e-01 5.500000e-01 ATP10B 23120 broad.mit.edu 37 5 160063251 160063251 + Missense_Mutation SNP T T A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:160063251T>A ENST00000327245.5 - 11 1912 c.1066A>T c.(1066-1068)Agc>Tgc p.S356C CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAAGGAAGCTGCCATTGGCA 0.527000 0 SO:0001583 missense ENST00000327245.5 1 0 hg19 CCDS43394.1 . . . . . . . . . . T 15.890000 2.967852 0.535070 . . ENSG00000118322 ENST00000327245 T 0.50001 0.76 5.180000 -2.040000 0.073430 ATPase, P-type, ATPase-associated domain (1); 0.959783 0.08779 N 0.895025 T 0.54711 0.1875 L 0.59967 1.855 0.093100 N 1.000000 D;D;D;D 0.57899 0.973;0.981;0.967;0.978 P;P;P;P 0.61275 0.886;0.818;0.818;0.75 T 0.48490 -0.9031 9 . . . . 5.290000 0.157210 0.0:0.2169:0.2542:0.5289 . 400;356;328;356 B4DHG1;O94823-2;O94823-3;O94823 .;.;.;AT10B_HUMAN C 356 ENSP00000313600:S356C . S - 1 0 ATP10B 159995829 0 0.058580 8.000000e-03 0.141370 0.485000 0.333110 -0.543000 0.060840 -0.507000 0.065490 0.454000 0.307480 AGC TCGA-HV-A5A4-01A-11D-A26I-08 ATP10B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374127.1 1 0 0 12 238 0 44 0 8.226738e-03 1 2 0 44 2 0 0 0 0 0 2 0 0.998811 0 235 0 44 2 0 0 0 0 44 2 -14.787640 1 0 0 0 1 0 0 0 2.000883 0 0.560000 2 0.560000 0.170000 0.090000 0.280000 0.170000 0.183647 0.170000 0 1.200000e-01 2.300000e-01 DOCK2 1794 broad.mit.edu 37 5 169509808 169509808 + Missense_Mutation SNP C C A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr5:169509808C>A ENST00000256935.8 + 52 5519 c.5439C>A c.(5437-5439)agC>agA p.S1813R DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTGGCCAGCAAATCGGCTG 0.512000 0 SO:0001583 missense ENST00000256935.8 1 1 hg19 CCDS4371.1 . . . . . . . . . . C 13.900000 2.374649 0.421050 . . ENSG00000134516 ENST00000256935;ENST00000520908;ENST00000540750 T;T;T 0.09350 3.65;3.27;2.99 4.300000 4.300000 0.512180 . 0.413850 0.25622 N 0.029413 T 0.07098 0.0180 N 0.14661 0.345 0.326120 N 0.524500 B;B;B 0.10296 0.0;0.003;0.0 B;B;B 0.08055 0.001;0.003;0.0 T 0.06338 -1.0832 10 0.37606 T 0.19 . 12.478300 0.558270 0.0:1.0:0.0:0.0 . 1305;369;1813 E7ERW7;B3KY14;Q92608 .;.;DOCK2_HUMAN R 1813;1305;874 ENSP00000256935:S1813R;ENSP00000429283:S1305R;ENSP00000438827:S874R ENSP00000256935:S1813R S + 3 2 DOCK2 169442386 1 0.714170 9.980000e-01 0.565050 0.657000 0.388880 3.201000 0.510590 2.407000 0.817760 0.650000 0.862430 AGC TCGA-HV-A5A4-01A-11D-A26I-08 DOCK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252828.2 1 0 0 24 223 0 30 0 9.175972e-01 0 42 0 30 2 0 0 0 0 0 2 1 1.000000 24 221 0 30 2 0 0 0 0 30 2 -10.081910 1 1 0 0 1 0 0 0 2.000883 0 0.560000 2 0.560000 0.340000 0.220000 0.490000 0.340000 0.357428 0.340000 0 2.800000e-01 4.200000e-01 SYNE1 23345 broad.mit.edu 37 6 152614868 152614868 + Missense_Mutation SNP C C T rs80265744 byFrequency TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:152614868C>T ENST00000367255.5 - 95 18468 c.17867G>A c.(17866-17868)cGc>cAc p.R5956H SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H 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) ATAGAGTGTGCGCTGCTTCTC 0.468000 HNSCC(10;0.0054) 0 SO:0001583 missense ENST00000367255.5 1 1 hg19 CCDS5236.2 4 0.0018315018315018315 1 0.0020325203252032522 0 0.0 3 0.005244755244755245 0 0.0 C 21.600000 4.166008 0.783390 . . ENSG00000131018 ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033 T;T;T;T;T;T;T 0.35973 1.28;1.28;1.28;1.28;1.28;1.28;1.28 5.370000 5.370000 0.771650 . 0.000000 0.52532 D 0.000064 T 0.51024 0.1650 L 0.57536 1.79 0.466780 D 0.999154 D;D;D;D 0.89917 0.999;1.0;1.0;1.0 P;D;D;D 0.74674 0.845;0.964;0.964;0.984 T 0.52403 -0.8580 10 0.62326 D 0.03 . 19.116300 0.933430 0.0:1.0:0.0:0.0 . 371;5956;5956;5885 B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4 .;SYNE1_HUMAN;.;. H 5956;5885;5956;5885;5568;480;131;178 ENSP00000356224:R5956H;ENSP00000396024:R5885H;ENSP00000265368:R5956H;ENSP00000390975:R5885H;ENSP00000341887:R5568H;ENSP00000349276:R480H;ENSP00000437411:R131H ENSP00000265368:R5956H R - 2 0 SYNE1 152656561 9.730000e-01 0.338510 9.870000e-01 0.457990 0.984000 0.730920 2.334000 0.439200 2.488000 0.839620 0.655000 0.942530 CGC TCGA-HV-A5A4-01A-11D-A26I-08 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 1 0 1 155 405 0 49 0 8.100668e-01 0 10 0 49 2 0 0 0 0 0 2 1 1.000000 155 403 0 48 2 0 0 0 0 49 2 -8.328959 1 1 121412 42 47 1 0 0 0 1.981248 0 0.560000 2 0.557522 0.970000 0.840000 1.000000 1.000000 0.964534 0.970000 1 9.100000e-01 1 BRD2 6046 broad.mit.edu 37 6 32944179 32944179 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:32944179C>T ENST00000374825.4 + 6 2464 c.763C>T c.(763-765)Cac>Tac p.H255Y BRD2_ENST00000395289.2_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y NM_005104.3 NP_005095.1 P25440 BRD2_HUMAN bromodomain containing 2 5 CAAGTCCTTGCACTCTGCTGG 0.562000 0 SO:0001583 missense ENST00000374825.4 1 1 hg19 CCDS4762.1 . . . . . . . . . . C 7.346000 0.621976 0.141930 . . ENSG00000204256 ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085 T;T;T;T;T;T 0.07800 3.35;3.35;3.35;3.16;3.35;3.32 5.630000 5.630000 0.862330 . 0.000000 0.50627 D 0.000111 T 0.09158 0.0226 L 0.55481 1.735 0.584320 D 0.999993 P;P 0.41188 0.741;0.7 P;B 0.45232 0.474;0.082 T 0.01935 -1.1244 10 0.51188 T 0.08 -17.7006 17.544900 0.878580 0.0:1.0:0.0:0.0 . 255;255 A2AAU0;P25440 .;BRD2_HUMAN Y 255;255;255;135;255;208 ENSP00000363958:H255Y;ENSP00000363964:H255Y;ENSP00000378704:H255Y;ENSP00000413495:H135Y;ENSP00000378702:H255Y;ENSP00000409145:H208Y ENSP00000363958:H255Y H + 1 0 BRD2 33052157 1 0.714170 1 0.803570 0.968000 0.652780 4.175000 0.582630 2.815000 0.969180 0.643000 0.837060 CAC TCGA-HV-A5A4-01A-11D-A26I-08 BRD2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000076503.2 1 0 1 151 432 0 63 1 1 74 177 0 63 2 0 0 0 0 0 2 1 1.000000 148 431 0 61 2 0 0 0 0 63 2 -20.000000 1 1 0 0 1 0 0 0 1.981248 0 0.560000 2 0.557522 0.910000 0.790000 1.000000 1.000000 0.917765 0.910000 1 8.500000e-01 9.800000e-01 BACH2 60468 broad.mit.edu 37 6 90660535 90660535 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr6:90660535G>A ENST00000257749.4 - 7 1997 c.1290C>T c.(1288-1290)agC>agT p.S430S RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|BACH2_ENST00000343122.3_Silent_p.S430S NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) AGAAGATCACGCTCCTCCGGT 0.592000 0 SO:0001819 synonymous_variant ENST00000257749.4 1 1 hg19 CCDS5026.1 TCGA-HV-A5A4-01A-11D-A26I-08 BACH2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041522.2 1 0 0 80 286 0 56 0 0 0 1 0 56 2 0 0 0 0 0 2 1 1.000000 80 285 0 56 2 0 0 0 0 56 2 -20.000000 1 1 0 0 1 0 0 0 1.981248 0 0.560000 2 0.557522 0.770000 0.620000 0.920000 0.770000 0.779926 0.770000 0 6.900000e-01 8.500000e-01 TNRC18 84629 broad.mit.edu 37 7 5410118 5410118 + Missense_Mutation SNP C C A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:5410118C>A ENST00000430969.1 - 11 4455 c.4107G>T c.(4105-4107)gaG>gaT p.E1369D TNRC18_ENST00000399537.4_Missense_Mutation_p.E1369D NM_001080495.2 NP_001073964.2 O15417 TNC18_HUMAN trinucleotide repeat containing 18 11 Ovarian(82;0.142) CTTCCAGCTTCTCCAAGGCCT 0.662000 0 SO:0001583 missense ENST00000430969.1 0 1 hg19 CCDS47534.1 . . . . . . . . . . C 8.565000 0.878582 0.173950 . . ENSG00000182095 ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499 T;T 0.12039 2.72;2.72 4.720000 3.840000 0.442390 . 0.000000 0.33916 N 0.004428 T 0.16769 0.0403 M 0.67953 2.075 0.307830 N 0.741791 P 0.50528 0.936 B 0.42462 0.388 T 0.10683 -1.0619 10 0.37606 T 0.19 . 11.064900 0.479700 0.0:0.9125:0.0:0.0875 . 1369 O15417 TNC18_HUMAN D 1369;1369;424;424 ENSP00000382452:E1369D;ENSP00000395538:E1369D ENSP00000330383:E424D E - 3 2 TNRC18 5376644 9.740000e-01 0.339450 8.610000e-01 0.338410 0.317000 0.281520 1.132000 0.314180 0.979000 0.384970 0.313000 0.208870 GAG TCGA-HV-A5A4-01A-11D-A26I-08 TNRC18-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 1 0 0 14 38 0 8 1 9.999860e-01 24 43 0 8 2 0 0 0 0 0 2 1 0.999891 14 38 0 8 2 0 0 0 0 8 2 -20.000000 1 1 0 0 1 1 2 3 2.006727 0 0.560000 2 0.561229 0.960000 0.580000 1.000000 1.000000 0.904234 0.960000 1 7.600000e-01 1 MAGI2 9863 broad.mit.edu 37 7 78636417 78636417 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:78636417C>T ENST00000354212.4 - 2 660 c.407G>A c.(406-408)cGc>cAc p.R136H MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2-AS2_ENST00000411616.1_RNA NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGCACCGTGCGGAGGTAGAG 0.373000 0 SO:0001583 missense ENST00000354212.4 1 1 hg19 CCDS5594.1 . . . . . . . . . . C 17.350000 3.367062 0.615130 . . ENSG00000187391 ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391 T;T;T 0.41758 0.99;0.99;0.99 5.290000 5.290000 0.746850 Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2); . . . . T 0.53400 0.1794 L 0.31926 0.97 0.807220 D 1.000000 D;D 0.89917 0.958;1.0 P;D 0.91635 0.493;0.999 T 0.42481 -0.9449 9 0.21540 T 0.41 . 17.919900 0.889630 0.0:1.0:0.0:0.0 . 136;136 Q86UL8-2;Q86UL8 .;MAGI2_HUMAN H 136 ENSP00000405766:R136H;ENSP00000346151:R136H;ENSP00000428389:R136H ENSP00000346151:R136H R - 2 0 MAGI2 78474353 1 0.714170 1 0.803570 0.993000 0.825480 7.683000 0.840930 2.470000 0.834450 0.637000 0.834800 CGC TCGA-HV-A5A4-01A-11D-A26I-08 MAGI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253197.3 1 0 1 179 415 0 41 0 0 0 1 0 41 2 0 0 0 0 0 2 1 1.000000 178 413 0 39 2 0 0 0 0 41 2 -20.000000 1 1 0 0 1 1 2 3 2.006727 0 0.560000 2 0.561229 0.990000 0.940000 1.000000 1.000000 0.996283 0.990000 1 9.900000e-01 1 CYP3A5 1577 broad.mit.edu 37 7 99258126 99258126 + Missense_Mutation SNP T T C TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr7:99258126T>C ENST00000222982.4 - 10 1121 c.1022A>G c.(1021-1023)aAt>aGt p.N341S CYP3A5_ENST00000343703.5_Missense_Mutation_p.N331S|CYP3A5_ENST00000339843.2_3'UTR NM_000777.3 NP_000768.1 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 5 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425) CCTCACCTTATTGGGCAAAAC 0.458000 0 SO:0001583 missense ENST00000222982.4 1 1 hg19 CCDS5672.1 . . . . . . . . . . T 11.110000 1.543326 0.275630 . . ENSG00000106258 ENST00000222982;ENST00000343703 T;T 0.67523 -0.27;-0.27 4.510000 2.070000 0.269550 . 0.240715 0.46442 D 0.000298 T 0.54647 0.1871 L 0.43757 1.38 0.807220 D 1.000000 B;B 0.17038 0.02;0.012 B;B 0.19391 0.015;0.025 T 0.47849 -0.9085 10 0.62326 D 0.03 . 7.190800 0.258240 0.0:0.1948:0.0:0.8052 . 331;341 F5H4S0;P20815 .;CP3A5_HUMAN S 341;331 ENSP00000222982:N341S;ENSP00000342969:N331S ENSP00000222982:N341S N - 2 0 CYP3A5 99096062 1 0.714170 9.980000e-01 0.565050 0.488000 0.334010 3.836000 0.558130 0.133000 0.186540 0.528000 0.532280 AAT TCGA-HV-A5A4-01A-11D-A26I-08 CYP3A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345469.1 1 0 1 198 455 0 63 1 1 327 381 0 63 2 0 0 0 0 0 2 1 1.000000 197 452 0 63 2 0 0 0 0 63 2 -20.000000 1 1 121412 1 37 1 1 2 3 2.006727 0 0.560000 2 0.561229 0.990000 0.950000 1.000000 1.000000 0.997466 0.990000 1 9.900000e-01 1 CACNA1B 774 broad.mit.edu 37 9 140919489 140919489 + Missense_Mutation SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:140919489G>A ENST00000371372.1 + 20 3296 c.3151G>A c.(3151-3153)Gtg>Atg p.V1051M CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V243M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 80 all_cancers(76;0.166) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) TCTCCAGAAGGTGGAGGAACA 0.562000 0 SO:0001583 missense ENST00000371372.1 1 1 hg19 CCDS59522.1 . . . . . . . . . . G 18.340000 3.602173 0.664450 . . ENSG00000148408 ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473 T;T;T;T;T;T;T;T 0.39592 1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07 5.020000 5.020000 0.671250 . 10.830000 0.00166 N 0.000000 T 0.56124 0.1964 L 0.42245 1.32 0.369250 D 0.891580 D;D;D 0.55172 0.97;0.97;0.97 P;P;P 0.54889 0.682;0.763;0.682 T 0.35201 -0.9798 10 0.48119 T 0.1 . 13.326700 0.604630 0.0:0.0:0.842:0.158 . 1051;1052;1051 B1AQK4;B1AQK7;B1AQK6 .;.;. M 1051;1051;243;1051;1052;1052;35;35 ENSP00000360423:V1051M;ENSP00000277551:V1051M;ENSP00000277549:V243M;ENSP00000360414:V1051M;ENSP00000360408:V1052M;ENSP00000360406:V1052M;ENSP00000360418:V35M;ENSP00000441232:V35M ENSP00000277549:V243M V + 1 0 CACNA1B 140039310 1 0.714170 1 0.803570 0.988000 0.763860 3.321000 0.519990 2.327000 0.790520 0.561000 0.740990 GTG TCGA-HV-A5A4-01A-11D-A26I-08 CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055380.1 1 0 1 19 74 0 12 0 0 0 0 12 2 0 0 0 0 0 2 1 0.999995 19 73 0 12 2 0 0 0 0 12 2 -20.000000 1 1 0 0 1 1 2 3 2.013390 0 0.560000 2 0.561229 0.730000 0.470000 1.000000 1.000000 0.743961 0.730000 0 5.900000e-01 8.900000e-01 C9orf66 157983 broad.mit.edu 37 9 215392 215392 + Missense_Mutation SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:215392C>T ENST00000382387.2 - 1 501 c.5G>A c.(4-6)aGa>aAa p.R2K DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron NM_152569.2 NP_689782.2 Q5T8R8 CI066_HUMAN chromosome 9 open reading frame 66 4 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) CACGGAGTGTCTCATAAACGG 0.597000 0 SO:0001583 missense ENST00000382387.2 1 1 hg19 CCDS6439.1 . . . . . . . . . . C 10.030000 1.237657 0.227110 . . ENSG00000183784 ENST00000382387 T 0.21932 1.98 3.020000 2.080000 0.270320 . . . . . T 0.11537 0.0281 N 0.08118 0 0.193000 N 0.999970 B 0.32573 0.376 B 0.37267 0.245 T 0.24870 -1.0148 9 0.87932 D 0 . 5.389000 0.162340 0.0:0.8357:0.0:0.1643 . 2 Q5T8R8 CI066_HUMAN K 2 ENSP00000371824:R2K ENSP00000371824:R2K R - 2 0 C9orf66 205392 2.100000e-02 0.187460 1.000000e-03 0.086480 0.032000 0.123920 0.775000 0.266890 0.806000 0.341830 0.462000 0.415740 AGA TCGA-HV-A5A4-01A-11D-A26I-08 C9orf66-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055436.1 1 0 0 86 243 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 1.000000 86 242 0 48 2 0 0 0 0 48 2 -20.000000 1 1 0 0 1 0.560000 2 0 0 NOL8 55035 broad.mit.edu 37 9 95077968 95077968 + Silent SNP C C T TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chr9:95077968C>T ENST00000535387.1 - 6 938 c.939G>A c.(937-939)gcG>gcA p.A313A NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000545558.1_Silent_p.A313A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000442668.2_Silent_p.A313A nucleolar protein 8 16 TTTCCTCTTTCGCAATCATCA 0.368000 0 SO:0001819 synonymous_variant ENST00000535387.1 1 1 hg19 CCDS47993.1 TCGA-HV-A5A4-01A-11D-A26I-08 NOL8-010 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000053082.2 1 0 0 47 101 0 10 1 9.978953e-01 8 16 0 10 2 0 0 0 0 0 2 1 1.000000 47 100 0 10 2 0 0 0 0 10 2 -20.000000 1 1 120782 15 39 1 0 0 0 1.988549 0 0.560000 2 0.557522 0.990000 0.870000 1.000000 1.000000 0.988896 0.990000 1 9.900000e-01 1 ZCCHC16 340595 broad.mit.edu 37 X 111697971 111697971 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:111697971G>A ENST00000340433.2 + 1 245 c.15G>A c.(13-15)acG>acA p.T5T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 27 AGAAGTGCACGAAATCATCAT 0.458000 0 SO:0001819 synonymous_variant ENST00000340433.2 1 1 hg19 CCDS35369.1 TCGA-HV-A5A4-01A-11D-A26I-08 ZCCHC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356964.1 1 0 1 197 604 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 1.000000 196 602 0 96 2 0 0 0 0 96 2 -6.478828 1 1 121136 5 40 1 0 1 1 0.560000 2 0.560000 0.870000 0.760000 0.980000 0.880000 0.879432 0.870000 1 8.100000e-01 9.300000e-01 VGLL1 51442 broad.mit.edu 37 X 135618242 135618242 + Silent SNP G G A TCGA-HV-A5A4-01A-11D-A26I-08 TCGA-HV-A5A4-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx da4ad638-a3f4-4d32-89a7-7120e39baf84 12f8208b-0c79-4d50-bbe8-616f8869ea9c g.chrX:135618242G>A ENST00000370634.3 + 2 233 c.63G>A c.(61-63)acG>acA p.T21T NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial-like family member 1 p.T21T(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTATAAAGACGGAATGGAATT 0.493000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000370634.3 1 1 hg19 CCDS14658.1 TCGA-HV-A5A4-01A-11D-A26I-08 VGLL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058493.1 1 0 1 206 523 0 75 0 8.046467e-02 0 2 0 75 2 0 0 0 0 0 2 1 1.000000 206 516 0 74 2 0 0 0 0 75 2 -10.310530 1 1 121410 4 36 1 0 1 1 0.560000 2 0.560000 0.990000 0.880000 1.000000 1.000000 0.980924 0.990000 1 9.400000e-01 1