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 NTM 50863 broad.mit.edu 37 11 132180047 132180047 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr11:132180047G>A ENST00000374786.1 + 5 1182 c.703G>A c.(703-705)Gtg>Atg p.V235M NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.V235M|NTM_ENST00000374791.3_Missense_Mutation_p.V235M|NTM_ENST00000427481.2_Missense_Mutation_p.V226M NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 56 AGGTGTCCCCGTGGGACAAAA 0.468000 0 SO:0001583 missense ENST00000374786.1 1 1 hg19 CCDS8491.1 . . . . . . . . . . G 23.7 4.443598 0.83993 . . ENSG00000182667 ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784 T;T;T;T;T;T 0.73469 -0.75;-0.75;-0.75;-0.75;-0.75;-0.75 6.07 6.07 0.98685 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1); 0.053565 0.85682 D 0.000000 T 0.79741 0.4498 M 0.76938 2.355 0.58432 D 0.999997 D;P;P;P;P;P 0.57899 0.981;0.955;0.723;0.88;0.723;0.855 P;B;B;B;B;B 0.47786 0.557;0.418;0.216;0.418;0.294;0.294 T 0.80850 -0.1198 10 0.48119 T 0.1 -13.6786 16.051 0.80763 0.0:0.1333:0.8667:0.0 . 235;226;235;235;235;235 B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2 .;.;.;NTRI_HUMAN;.;. M 235;235;226;235;235;235 ENSP00000363923:V235M;ENSP00000437668:V235M;ENSP00000416320:V226M;ENSP00000363918:V235M;ENSP00000396722:V235M;ENSP00000363916:V235M ENSP00000363916:V235M V + 1 0 NTM 131685257 1.000000 0.71417 0.992000 0.48379 0.995000 0.86356 3.772000 0.55325 2.884000 0.98904 0.655000 0.94253 GTG TCGA-IB-7645-01A-22D-2201-08 NTM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141937.1 1 0 0 42 631 0 178 0 9.850037e-01 0 100 0 178 2 0 0 0 0 0 2 1 1.000000 42 623 0 177 2 0 0 0 0 178 2 -7.924103 1 1 121412 2 37 1 0 0 0 1.952570 0 0.140000 1.990000 0.113950 0.860000 0.630000 1.000000 1.000000 0.860817 0.860000 1 0.730000 1.000000 IGSF22 283284 broad.mit.edu 37 11 18736168 18736168 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr11:18736168C>T ENST00000513874.1 - 12 1674 c.1535G>A c.(1534-1536)cGt>cAt p.R512H RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 p.R512H(2) 56 TGTGGCCAGACGCTCTGGGGA 0.612000 2 Substitution - Missense(2) SO:0001583 missense ENST00000513874.1 1 1 hg19 CCDS41625.2 . . . . . . . . . . C 16.75 3.209186 0.58343 . . ENSG00000179057 ENST00000513874 T 0.55588 0.51 4.51 1.44 0.22558 . 0.444637 0.16671 N 0.204344 T 0.52191 0.1719 L 0.39898 1.24 0.09310 N 1 D 0.76494 0.999 P 0.57101 0.813 T 0.40701 -0.9549 10 0.51188 T 0.08 . 6.6056 0.22724 0.0:0.6562:0.0:0.3438 . 512 D6RGV7 . H 512 ENSP00000421191:R512H ENSP00000322422:R512H R - 2 0 IGSF22 18692744 0.359000 0.24955 0.086000 0.20670 0.924000 0.55760 0.834000 0.27518 0.003000 0.14656 0.551000 0.68910 CGT TCGA-IB-7645-01A-22D-2201-08 IGSF22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360850.2 0 0 0 8 221 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.988966 8 217 0 64 2 0 0 0 0 64 2 -10.002770 1 1 121016 4 33 1 0 0 0 1.962427 0 0.140000 1.990000 0.119033 0.500000 0.230000 0.870000 0.470000 0.525011 0.500000 0 0.350000 0.690000 DDB1 1642 broad.mit.edu 37 11 61091514 61091514 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr11:61091514C>T ENST00000301764.7 - 7 1255 c.858G>A c.(856-858)gaG>gaA p.E286E DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 48 GTTCCTCCTTCTCCAAAAGCA 0.517000 Nucleotide excision repair (NER) 0 SO:0001819 synonymous_variant ENST00000301764.7 1 1 hg19 CCDS31576.1 TCGA-IB-7645-01A-22D-2201-08 DDB1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398816.1 0 0 0 24 800 0 197 1 9.912909e-01 6 243 0 197 2 0 0 0 0 0 2 1 1.000000 24 789 0 195 2 0 0 0 0 197 2 -2.936624 1 0 0 0 1 0 0 0 1.933406 0 0.140000 1.990000 0.104913 0.400000 0.260000 0.570000 0.400000 0.411131 0.400000 0 0.320000 0.490000 DDB1 1642 broad.mit.edu 37 11 61091563 61091563 + Missense_Mutation SNP C C G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr11:61091563C>G ENST00000301764.7 - 7 1206 c.809G>C c.(808-810)aGa>aCa p.R270T DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 48 CAGCAGGTATCTTGAGCCATT 0.493000 Nucleotide excision repair (NER) 0 SO:0001583 missense ENST00000301764.7 1 1 hg19 CCDS31576.1 . . . . . . . . . . C 32 5.176730 0.94846 . . ENSG00000167986 ENST00000301764;ENST00000535174;ENST00000541513 T;T;T 0.44083 0.93;0.93;0.93 5.72 5.72 0.89469 . 0.000000 0.85682 D 0.000000 T 0.70868 0.3273 M 0.86502 2.82 0.80722 D 1 D;D;D 0.89917 1.0;0.999;1.0 D;D;D 0.87578 0.972;0.958;0.998 T 0.71234 -0.4653 10 0.40728 T 0.16 -16.3903 19.8965 0.96963 0.0:1.0:0.0:0.0 . 270;270;270 F5GY55;B7Z2A1;Q16531 .;.;DDB1_HUMAN T 270;53;85 ENSP00000301764:R270T;ENSP00000446044:R53T;ENSP00000442660:R85T ENSP00000301764:R270T R - 2 0 DDB1 60848139 1.000000 0.71417 0.613000 0.29037 0.952000 0.60782 7.818000 0.86416 2.717000 0.92951 0.655000 0.94253 AGA TCGA-IB-7645-01A-22D-2201-08 DDB1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398816.1 0 0 0 19 761 0 190 1 9.327430e-01 7 178 0 190 2 0 0 0 0 0 2 1 0.999989 19 749 0 186 2 0 0 0 0 190 2 -3.021983 1 0 0 0 1 0 0 0 1.933406 0 0.140000 1.990000 0.104913 0.330000 0.200000 0.500000 0.330000 0.347206 0.330000 0 0.260000 0.420000 LRRC43 254050 broad.mit.edu 37 12 122687867 122687867 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr12:122687867C>T ENST00000339777.4 + 12 1877 c.1849C>T c.(1849-1851)Ccg>Tcg p.P617S B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S|B3GNT4_ENST00000535274.1_5'Flank NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) CTCAGAAAAGCCGAAAGCCGT 0.607000 0 SO:0001583 missense ENST00000339777.4 1 1 hg19 CCDS45001.1 . . . . . . . . . . C 8.029 0.761252 0.15914 . . ENSG00000158113 ENST00000339777;ENST00000289014;ENST00000425921 T;T 0.52526 0.66;1.08 4.59 -9.19 0.00685 . 3.517060 0.00721 N 0.000881 T 0.16938 0.0407 N 0.08118 0 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.34502 -0.9826 10 0.02654 T 1 0.2056 1.2819 0.02043 0.1967:0.3745:0.1692:0.2597 . 617 Q8N309 LRC43_HUMAN S 617;488;432 ENSP00000344233:P617S;ENSP00000416628:P432S ENSP00000289014:P488S P + 1 0 LRRC43 121253820 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.381000 0.02549 -2.550000 0.00480 -0.311000 0.09066 CCG TCGA-IB-7645-01A-22D-2201-08 LRRC43-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401589.1 1 0 0 22 379 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 0.999999 22 375 0 110 2 0 0 0 0 111 2 -5.699074 1 1 0 0 1 0 0 0 1.977355 0 0.140000 1.990000 0.125305 0.770000 0.500000 1.000000 1.000000 0.778938 0.770000 0 0.620000 0.940000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 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 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 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 . 18.3719 0.90409 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 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-IB-7645-01A-22D-2201-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 14 116 0 18 1 9.463491e-01 19 25 0 18 2 1 1 28 581 0 400 2 1 0.999789 13 115 0 18 2 1 1 324 7698 0 18 2 -8.307574 1 1 0 0 1 0 0 0 1.977355 0 0.140000 1.990000 0.125305 0.990000 0.840000 1.000000 1.000000 0.990287 0.990000 1 0.990000 1.000000 KCNA6 3742 broad.mit.edu 37 12 4919409 4919409 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr12:4919409G>A ENST00000280684.3 + 1 1068 c.202G>A c.(202-204)Gga>Aga p.G68R RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G68R P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 49 Dalfampridine(DB06637) CACGCTGCTCGGAGACCCTGG 0.617000 HNSCC(72;0.22) 0 SO:0001583 missense ENST00000280684.3 1 1 hg19 CCDS8534.1 . . . . . . . . . . G 21.0 4.075087 0.76415 . . ENSG00000151079 ENST00000433855;ENST00000280684 T;T 0.78364 -1.17;-1.17 4.57 3.68 0.42216 BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1); 0.056516 0.64402 D 0.000001 D 0.92750 0.7695 H 0.99368 4.535 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 D 0.94196 0.7445 10 0.87932 D 0 . 11.8345 0.52316 0.085:0.0:0.915:0.0 . 68 P17658 KCNA6_HUMAN R 68 ENSP00000408321:G68R;ENSP00000280684:G68R ENSP00000280684:G68R G + 1 0 KCNA6 4789670 1.000000 0.71417 0.991000 0.47740 0.986000 0.74619 9.484000 0.97940 1.146000 0.42352 0.462000 0.41574 GGA TCGA-IB-7645-01A-22D-2201-08 KCNA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398909.1 0 0 0 10 352 0 84 0 2.910003e-03 0 3 0 84 2 0 0 0 0 0 2 1 0.996617 10 344 0 80 2 0 0 0 0 84 2 -3.206027 1 1 0 0 1 0 1 1 1.991314 0 0.140000 1.990000 0.133938 0.400000 0.200000 0.670000 0.380000 0.421043 0.400000 0 0.290000 0.540000 KRT75 9119 broad.mit.edu 37 12 52827640 52827640 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr12:52827640C>T ENST00000252245.5 - 1 669 c.449G>A c.(448-450)cGc>cAc p.R150H NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 28 GATCTGCTCGCGCTCCTCGGC 0.562000 0 SO:0001583 missense ENST00000252245.5 1 1 hg19 CCDS8827.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 21.4 4.145521 0.77888 . . ENSG00000170454 ENST00000252245 D 0.90133 -2.62 5.74 4.72 0.59763 Filament (1); 0.164522 0.29692 N 0.011442 D 0.94785 0.8316 H 0.94808 3.585 0.30984 N 0.722149 P 0.50943 0.94 P 0.52793 0.709 D 0.94024 0.7295 10 0.87932 D 0 . 9.8904 0.41288 0.0:0.7972:0.0:0.2028 . 150 O95678 K2C75_HUMAN H 150 ENSP00000252245:R150H ENSP00000252245:R150H R - 2 0 KRT75 51113907 0.984000 0.35163 0.608000 0.28969 0.884000 0.51177 2.211000 0.42825 1.168000 0.42723 0.655000 0.94253 CGC TCGA-IB-7645-01A-22D-2201-08 KRT75-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404968.1 0 0 0 30 690 0 145 0 0 0 0 145 2 0 0 0 0 0 2 1 1.000000 30 681 0 145 2 0 0 0 0 145 2 -4.099637 1 1 121412 3 38 1 0 0 0 1.977355 0 0.140000 1.990000 0.125305 0.580000 0.400000 0.800000 0.580000 0.597213 0.580000 0 0.480000 0.700000 KRT77 374454 broad.mit.edu 37 12 53097128 53097128 + Missense_Mutation SNP T T C TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr12:53097128T>C ENST00000341809.3 - 1 119 c.91A>G c.(91-93)Agt>Ggt p.S31G KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 25 ACTGCCGGACTCCCACCACCA 0.532000 0 SO:0001583 missense ENST00000341809.3 1 1 hg19 CCDS8837.1 . . . . . . . . . . T 9.588 1.125287 0.20959 . . ENSG00000189182 ENST00000341809 D 0.85629 -2.01 4.63 2.25 0.28309 . . . . . T 0.77725 0.4173 L 0.46741 1.465 0.34255 D 0.679289 B 0.06786 0.001 B 0.06405 0.002 T 0.72367 -0.4315 9 0.35671 T 0.21 . 7.0093 0.24853 0.0:0.2621:0.0:0.7379 . 31 Q7Z794 K2C1B_HUMAN G 31 ENSP00000342710:S31G ENSP00000342710:S31G S - 1 0 KRT77 51383395 0.000000 0.05858 0.349000 0.25694 0.480000 0.33159 0.067000 0.14510 0.377000 0.24735 0.482000 0.46254 AGT TCGA-IB-7645-01A-22D-2201-08 KRT77-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404111.1 0 0 0 8 286 0 70 0 0 0 0 70 2 0 0 0 0 0 2 1 0.988875 9 280 0 70 2 0 0 0 0 70 2 -9.304051 1 1 0 0 1 0 0 0 1.977355 0 0.140000 1.990000 0.125305 0.390000 0.180000 0.690000 0.370000 0.416926 0.390000 0 0.270000 0.550000 DYRK2 8445 broad.mit.edu 37 12 68051338 68051338 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr12:68051338C>T ENST00000344096.3 + 3 1064 c.651C>T c.(649-651)caC>caT p.H217H RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.H144H NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) CCCACGATCACGTGGCTTACA 0.552000 0 SO:0001819 synonymous_variant ENST00000344096.3 1 1 hg19 CCDS8978.1 TCGA-IB-7645-01A-22D-2201-08 DYRK2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000402218.1 1 0 0 16 233 0 47 1 9.863065e-01 7 98 0 47 2 0 0 0 0 0 2 1 0.999934 16 229 0 46 2 0 0 0 0 47 2 -19.540960 1 1 0 0 1 0 0 0 1.977355 0 0.140000 1.990000 0.125305 0.900000 0.540000 1.000000 1.000000 0.869756 0.900000 1 0.700000 1.000000 MYO16 23026 broad.mit.edu 37 13 109704657 109704657 + Missense_Mutation SNP A A G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr13:109704657A>G ENST00000357550.2 + 24 2857 c.2816A>G c.(2815-2817)aAt>aGt p.N939S MYO16_ENST00000356711.2_Missense_Mutation_p.N939S|MYO16_ENST00000457511.2_Missense_Mutation_p.N451S NM_001198950.1 NP_001185879.1 myosin XVI 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCTAGTGAAAATGTCGTGATC 0.373000 0 SO:0001583 missense ENST00000357550.2 1 1 hg19 CCDS32008.1 . . . . . . . . . . A 15.68 2.904230 0.52333 . . ENSG00000041515 ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511 D;D;D 0.86627 -2.15;-2.15;-2.15 5.96 5.96 0.96718 Myosin head, motor domain (2); 0.000000 0.43260 U 0.000582 D 0.84005 0.5377 L 0.50993 1.605 0.51767 D 0.99993 P;B;P 0.40282 0.453;0.291;0.711 B;B;B 0.38056 0.172;0.1;0.264 T 0.83210 -0.0074 9 . . . . 15.6089 0.76699 1.0:0.0:0.0:0.0 . 451;939;939 F8W883;Q9Y6X6-2;Q9Y6X6 .;.;MYO16_HUMAN S 939;939;727;451 ENSP00000349145:N939S;ENSP00000350160:N939S;ENSP00000401633:N451S . N + 2 0 MYO16 108502658 1.000000 0.71417 0.998000 0.56505 0.998000 0.95712 5.917000 0.69989 2.279000 0.76181 0.533000 0.62120 AAT TCGA-IB-7645-01A-22D-2201-08 MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045746.1 1 0 1 53 395 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 1.000000 52 390 0 69 2 0 0 0 0 69 2 -20.000000 1 1 0 0 1 2 2 4 2.150644 1 0.140000 1.990000 0.203556 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 UGGT2 55757 broad.mit.edu 37 13 96592266 96592266 + Missense_Mutation SNP T T C TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr13:96592266T>C ENST00000376747.3 - 16 1827 c.1757A>G c.(1756-1758)cAt>cGt p.H586R NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 60 AATATTAGCATGAGGAAATGT 0.333000 0 SO:0001583 missense ENST00000376747.3 1 1 hg19 CCDS9480.1 . . . . . . . . . . T 12.68 2.011877 0.35511 . . ENSG00000102595 ENST00000376747 T 0.29917 1.55 5.64 4.45 0.53987 . 0.380232 0.32671 N 0.005790 T 0.26448 0.0646 L 0.48362 1.52 0.80722 D 1 B 0.14012 0.009 B 0.17098 0.017 T 0.04333 -1.0959 10 0.21014 T 0.42 -3.9518 11.5681 0.50818 0.0:0.0702:0.0:0.9298 . 586 Q9NYU1 UGGG2_HUMAN R 586 ENSP00000365938:H586R ENSP00000365938:H586R H - 2 0 UGGT2 95390267 1.000000 0.71417 0.970000 0.41538 0.974000 0.67602 3.189000 0.50965 0.960000 0.38005 0.459000 0.35465 CAT TCGA-IB-7645-01A-22D-2201-08 UGGT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045507.1 1 0 1 93 578 0 79 1 9.135322e-01 8 20 0 79 2 0 0 0 0 0 2 1 1.000000 93 573 0 79 2 0 0 0 0 79 2 -20.000000 1 1 0 0 1 2 2 4 2.150644 1 0.140000 1.990000 0.203556 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 OR4Q3 441669 broad.mit.edu 37 14 20216249 20216249 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr14:20216249C>T ENST00000331723.1 + 1 663 c.663C>T c.(661-663)atC>atT p.I221I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) CTTATGCTATCATCCTGATCA 0.507000 0 SO:0001819 synonymous_variant ENST00000331723.1 1 1 hg19 CCDS32020.1 TCGA-IB-7645-01A-22D-2201-08 OR4Q3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409818.2 1 0 0 18 465 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 0.999982 18 463 0 80 2 0 0 0 0 80 2 -3.856611 1 1 0 0 1 1 2 3 2.057628 0 0.140000 1.990000 0.155372 0.580000 0.340000 1.000000 0.540000 0.643825 0.580000 0 0.440000 1.000000 C16orf89 146556 broad.mit.edu 37 16 5112524 5112524 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr16:5112524G>A ENST00000315997.5 - 2 461 c.260C>T c.(259-261)cCg>cTg p.P87L C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L|C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 p.P125L(2)|p.P87L(1) 12 CAGGCTCAGCGGCTGCAGCAG 0.562000 3 Substitution - Missense(3) SO:0001583 missense ENST00000315997.5 1 1 hg19 CCDS42116.2 . . . . . . . . . . G 6.069 0.381079 0.11466 . . ENSG00000153446 ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997 T;T;T;T;T 0.30981 1.51;1.51;1.51;1.51;1.51 4.98 0.777 0.18538 . 0.331114 0.28268 N 0.015977 T 0.22936 0.0554 L 0.56769 1.78 0.23879 N 0.996585 B;B 0.30211 0.179;0.273 B;B 0.25140 0.026;0.058 T 0.14615 -1.0466 10 0.49607 T 0.09 -14.0929 4.1243 0.10119 0.266:0.0:0.5735:0.1606 . 87;125 Q6UX73;G3V0F0 CP089_HUMAN;. L 87;87;87;125;125;87 ENSP00000417158:P87L;ENSP00000420566:P87L;ENSP00000390402:P125L;ENSP00000283478:P125L;ENSP00000324672:P87L ENSP00000324672:P87L P - 2 0 C16orf89 5052525 0.000000 0.05858 0.119000 0.21687 0.049000 0.14656 -0.083000 0.11286 -0.062000 0.13088 -1.263000 0.01449 CCG TCGA-IB-7645-01A-22D-2201-08 C16orf89-001 KNOWN upstream_ATG|basic|CCDS protein_coding protein_coding OTTHUMT00000354524.1 1 0 0 22 418 0 106 0 7.611367e-01 0 54 0 106 2 0 0 0 0 0 2 1 0.999999 18 412 0 105 2 0 0 0 0 106 2 -3.021364 1 1 120850 3 38 1 1 2 3 2.043292 0 0.140000 1.990000 0.152459 0.760000 0.480000 1.000000 1.000000 0.781301 0.760000 0 0.600000 1.000000 ADAD2 161931 broad.mit.edu 37 16 84228111 84228111 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr16:84228111C>T ENST00000315906.5 + 2 534 c.482C>T c.(481-483)gCg>gTg p.A161V RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A233V|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA NM_001145400.1 NP_001138872.1 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 13 GCGGGCACTGCGAATAGCAAG 0.652000 0 SO:0001583 missense ENST00000315906.5 0 1 hg19 CCDS45536.1 . . . . . . . . . . C 12.39 1.922921 0.33908 . . ENSG00000140955 ENST00000315906;ENST00000268624 T;T 0.77098 -1.07;-1.07 4.15 0.639 0.17747 Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1); 0.434885 0.19591 N 0.110615 T 0.72558 0.3475 L 0.29908 0.895 0.09310 N 1 D;P 0.61697 0.99;0.951 P;B 0.51945 0.685;0.32 T 0.66160 -0.5993 10 0.56958 D 0.05 -10.474 11.4451 0.50118 0.0:0.4186:0.5814:0.0 . 161;233 Q8NCV1;Q8NCV1-2 ADAD2_HUMAN;. V 161;233 ENSP00000325153:A161V;ENSP00000268624:A233V ENSP00000268624:A233V A + 2 0 ADAD2 82785612 0.040000 0.19996 0.001000 0.08648 0.003000 0.03518 0.694000 0.25512 0.449000 0.26747 0.511000 0.50034 GCG TCGA-IB-7645-01A-22D-2201-08 ADAD2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433385.1 1 0 1 7 88 0 20 0 0 0 1 0 20 2 0 0 0 0 0 2 1 0.981954 7 88 0 20 2 0 0 0 0 20 2 -5.394511 1 1 121348 1 26 1 2 2 4 2.105371 1 0.140000 1.990000 0.185606 0.990000 0.550000 1.000000 1.000000 0.943035 0.990000 1 0.850000 1.000000 KRT40 125115 broad.mit.edu 37 17 39137358 39137358 + Nonsense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr17:39137358C>A ENST00000398486.2 - 6 893 c.733G>T c.(733-735)Gag>Tag p.E245* KRT40_ENST00000377755.4_Nonsense_Mutation_p.E245* NM_182497.3 NP_872303.2 Q6A162 K1C40_HUMAN keratin 40 9 Breast(137;0.00043) GTGTCCAGCTCCACACTGAGG 0.522000 0 SO:0001587 stop_gained ENST00000398486.2 0 1 hg19 CCDS42320.1 . . . . . . . . . . C 36 5.889692 0.97068 . . ENSG00000204889 ENST00000377755;ENST00000398486 . . . 5.4 5.4 0.78164 . 0.000000 0.34156 N 0.004215 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.66056 D 0.02 . 14.1854 0.65603 0.0:0.8505:0.1495:0.0 . . . . X 245 . ENSP00000366984:E245X E - 1 0 KRT40 36390884 0.999000 0.42202 1.000000 0.80357 0.908000 0.53690 3.920000 0.56446 2.688000 0.91661 0.655000 0.94253 GAG TCGA-IB-7645-01A-22D-2201-08 KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257701.3 1 0 1 69 596 0 161 0 0 0 0 161 2 0 0 0 0 0 2 1 1.000000 69 588 0 159 2 0 0 0 0 161 2 -19.966000 1 1 0 0 1 1 2 3 2.067548 0 0.140000 1.990000 0.157689 0.990000 0.990000 1.000000 1.000000 0.999990 0.990000 1 0.990000 1.000000 GHDC 84514 broad.mit.edu 37 17 40341794 40341794 + Missense_Mutation SNP A A G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr17:40341794A>G ENST00000301671.8 - 9 1961 c.1520T>C c.(1519-1521)tTc>tCc p.F507S GHDC_ENST00000587427.1_Missense_Mutation_p.F507S|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000428494.2_Missense_Mutation_p.F468S Q8N2G8 GHDC_HUMAN GH3 domain containing 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) CGCAGGGGGGAAGGGGGAGGA 0.716000 0 SO:0001583 missense ENST00000301671.8 0 1 hg19 CCDS11422.1 . . . . . . . . . . A 0.719 -0.784245 0.02907 . . ENSG00000167925 ENST00000393854;ENST00000428494;ENST00000301671 . . . 4.76 -1.19 0.09585 . 0.485347 0.21148 N 0.079375 T 0.18800 0.0451 L 0.36672 1.1 0.24617 N 0.993693 B;B 0.18610 0.029;0.026 B;B 0.19391 0.023;0.025 T 0.13124 -1.0521 9 0.21540 T 0.41 -0.9573 0.3415 0.00334 0.3859:0.2118:0.159:0.2434 . 468;507 E9PDB5;Q8N2G8 .;GHDC_HUMAN S 451;468;507 . ENSP00000301671:F507S F - 2 0 GHDC 37595320 0.344000 0.24827 0.053000 0.19242 0.068000 0.16541 0.663000 0.25053 -0.432000 0.07297 0.454000 0.30748 TTC TCGA-IB-7645-01A-22D-2201-08 GHDC-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000449794.1 1 0 0 3 52 0 8 0 2.595335e-01 0 14 0 8 2 0 0 0 0 0 2 1 0.794392 3 49 0 8 2 0 0 0 0 8 2 -7.298126 1 1 0 0 1 1 2 3 2.067548 0 0.140000 1.990000 0.157689 0.990000 0.270000 1.000000 1.000000 0.828199 0.990000 1 0.540000 1.000000 ITGB4 3691 broad.mit.edu 37 17 73728266 73728266 + Missense_Mutation SNP G G T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr17:73728266G>T ENST00000200181.3 + 12 1587 c.1400G>T c.(1399-1401)cGc>cTc p.R467L ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGTCAGCTCGCTGCAGCTTC 0.637000 0 SO:0001583 missense ENST00000200181.3 1 1 hg19 CCDS11727.1 . . . . . . . . . . G 9.585 1.124722 0.20959 . . ENSG00000132470 ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880 T;T;T 0.74737 -0.87;-0.81;-0.81 5.16 -6.43 0.01926 . 0.616465 0.14523 N 0.314320 T 0.43122 0.1233 N 0.11927 0.2 0.20196 N 0.999928 B;B;B;B;P 0.42735 0.015;0.109;0.432;0.306;0.788 B;B;B;B;B 0.37692 0.007;0.047;0.256;0.131;0.198 T 0.47018 -0.9149 10 0.49607 T 0.09 . 1.7767 0.03023 0.3493:0.0822:0.3089:0.2596 . 427;467;467;467;467 B4E3N0;P16144-5;P16144-3;A0AVL6;P16144 .;.;.;.;ITB4_HUMAN L 383;467;467;467 ENSP00000200181:R467L;ENSP00000344079:R467L;ENSP00000400217:R467L ENSP00000200181:R467L R + 2 0 ITGB4 71239861 0.000000 0.05858 0.132000 0.22025 0.612000 0.37316 -0.551000 0.06027 -1.057000 0.03201 -0.136000 0.14681 CGC TCGA-IB-7645-01A-22D-2201-08 ITGB4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000448334.1 0 0 1 11 413 0 84 1 9.978833e-01 78 326 0 84 2 0 0 0 0 0 2 1 0.998222 12 405 0 84 2 0 0 0 0 84 2 -3.222717 1 1 0 0 1 1 2 3 2.067548 0 0.140000 1.990000 0.157689 0.420000 0.210000 1.000000 0.370000 0.525808 0.420000 0 0.300000 1.000000 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr17:7578263G>A ENST00000269305.4 - 6 775 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196* NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CCTTCCACTCGGATAAGATGC 0.552000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 232 Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1) GRCh37 CM941329 TP53 M SO:0001587 stop_gained Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . G 14.02 2.409843 0.42715 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 . . . 5.41 4.44 0.53790 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -19.9531 12.3046 0.54895 0.0827:0.0:0.9173:0.0 . . . . X 196;196;196;196;196;196;185;103;64;103;64 . ENSP00000269305:R196X R - 1 2 TP53 7518988 1.000000 0.71417 0.997000 0.53966 0.023000 0.10783 2.166000 0.42406 1.427000 0.47276 -0.140000 0.14226 CGA TCGA-IB-7645-01A-22D-2201-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 21 235 0 49 0 9.385822e-01 1 54 0 49 2 1 1 111 1448 0 1283 2 1 0.999998 21 232 0 49 2 0 0 0 0 49 2 -2.806911 1 1 121412 1 40 1 0 1 1 1.888955 1 0.140000 1.990000 0.075269 0.880000 0.620000 1.000000 0.990000 0.868627 0.880000 1 0.750000 0.970000 ADCYAP1 116 broad.mit.edu 37 18 909532 909532 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr18:909532C>T ENST00000579794.1 + 4 705 c.427C>T c.(427-429)Cgc>Tgc p.R143C ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.3_ENST00000582554.1_RNA NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 12 CAGCTACAGCCGCTACCGGAA 0.577000 0 SO:0001583 missense ENST00000579794.1 1 1 hg19 CCDS11825.1 . . . . . . . . . . C 34 5.334375 0.95758 . . ENSG00000141433 ENST00000450565;ENST00000400219;ENST00000269200 . . . 5.17 5.17 0.71159 Glucagon/GIP/secretin/VIP (4); 0.000000 0.85682 D 0.000000 D 0.85647 0.5745 M 0.90145 3.09 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.88814 0.3294 9 0.87932 D 0 . 18.6597 0.91468 0.0:1.0:0.0:0.0 . 143 P18509 PACA_HUMAN C 282;143;143 . ENSP00000269200:R143C R + 1 0 ADCYAP1 899532 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.011000 0.70760 2.391000 0.81399 0.650000 0.86243 CGC TCGA-IB-7645-01A-22D-2201-08 ADCYAP1-003 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440765.3 0 0 0 26 722 0 184 0 5.863339e-02 0 11 0 184 2 0 0 0 0 0 2 1 1.000000 27 710 0 181 2 0 0 0 0 184 2 -2.764386 1 1 0 0 1 0 1 1 1.999386 0 0.140000 1.990000 0.135765 0.490000 0.330000 0.690000 0.490000 0.507415 0.490000 0 0.400000 0.600000 DNMT1 1786 broad.mit.edu 37 19 10283847 10283847 + Silent SNP A A C rs61758429 TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:10283847A>C ENST00000340748.4 - 8 874 c.639T>G c.(637-639)gtT>gtG p.V213V DNMT1_ENST00000359526.4_Silent_p.V229V|DNMT1_ENST00000540357.1_Silent_p.V213V P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035) GCGGTCTAGCAACTCTGTCAA 0.448000 0 SO:0001819 synonymous_variant ENST00000340748.4 0 1 hg19 CCDS12228.1 TCGA-IB-7645-01A-22D-2201-08 DNMT1-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451166.1 0 0 0 5 243 0 70 0 4.151969e-01 0 61 0 70 2 0 0 0 0 0 2 1 0.936836 5 241 0 70 2 0 0 0 0 70 2 -6.874494 1 0 121412 4 38 1 0 0 0 1.946505 0 0.140000 1.990000 0.111387 0.290000 0.110000 0.590000 0.280000 0.321178 0.290000 0 0.190000 0.440000 MYO9B 4650 broad.mit.edu 37 19 17322900 17322900 + Silent SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:17322900G>A ENST00000594824.1 + 40 6402 c.6255G>A c.(6253-6255)ccG>ccA p.P2085P MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR Q13459 MYO9B_HUMAN myosin IXB 39 GCTGGGCACCGGGTGCCCGGG 0.716000 0 SO:0001819 synonymous_variant ENST00000594824.1 0 1 hg19 TCGA-IB-7645-01A-22D-2201-08 MYO9B-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000463236.1 0 0 0 3 46 0 15 0 0 0 1 0 15 2 0 0 0 0 0 2 1 0.799167 3 44 0 14 2 0 0 0 0 15 2 -7.396224 1 1 116348 14 36 1 0 0 0 1.946505 0 0.140000 1.990000 0.111387 0.810000 0.250000 1.000000 1.000000 0.769595 0.810000 0 0.480000 1.000000 GATAD2A 54815 broad.mit.edu 37 19 19609403 19609403 + Missense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:19609403C>A ENST00000360315.3 + 8 1388 c.1076C>A c.(1075-1077)aCg>aAg p.T359K GATAD2A_ENST00000404158.1_Missense_Mutation_p.T359K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K NM_017660.3 NP_060130.3 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 13 CTGGAGAAGACGCTACTCGAG 0.647000 0 SO:0001583 missense ENST00000360315.3 0 1 hg19 CCDS12402.2 . . . . . . . . . . C 31 5.086125 0.94100 . . ENSG00000167491 ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563 T;T;T;T 0.54279 1.11;1.04;1.11;0.58 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 T 0.74176 0.3682 M 0.77313 2.365 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.998 T 0.74290 -0.3713 9 . . . -12.7933 18.3542 0.90351 0.0:1.0:0.0:0.0 . 186;378;359 B4DKZ7;B5MC40;Q86YP4 .;.;P66A_HUMAN K 359;359;378;359;186 ENSP00000353463:T359K;ENSP00000252577:T359K;ENSP00000351552:T359K;ENSP00000388416:T186K . T + 2 0 GATAD2A 19470403 1.000000 0.71417 1.000000 0.80357 0.568000 0.35870 7.796000 0.85898 2.691000 0.91804 0.650000 0.86243 ACG TCGA-IB-7645-01A-22D-2201-08 GATAD2A-202 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000326671.4 0 0 0 6 188 0 48 1 8.312715e-01 6 98 0 48 2 0 0 0 0 0 2 1 0.948959 5 165 0 47 2 0 0 0 0 48 2 -7.980274 1 1 0 0 1 0 0 0 1.946505 0 0.140000 1.990000 0.111387 0.440000 0.180000 0.830000 0.410000 0.472941 0.440000 0 0.290000 0.640000 ZNF93 81931 broad.mit.edu 37 19 20044700 20044700 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:20044700C>T ENST00000343769.5 + 4 964 c.936C>T c.(934-936)ccC>ccT p.P312P AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 24 GAGAGAAGCCCTACGTTTGTG 0.368000 0 SO:0001819 synonymous_variant ENST00000343769.5 0 1 hg19 CCDS32973.1 TCGA-IB-7645-01A-22D-2201-08 ZNF93-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460808.2 0 0 0 6 265 0 43 0 1.028871e-02 0 6 0 43 2 0 0 0 0 0 2 1 0.963392 6 260 0 42 2 0 0 0 0 43 2 -7.055372 1 1 0 0 1 0 0 0 1.946505 0 0.140000 1.990000 0.111387 0.320000 0.130000 0.610000 0.290000 0.344100 0.320000 0 0.210000 0.460000 GRIK5 2901 broad.mit.edu 37 19 42563599 42563599 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:42563599G>A ENST00000262895.3 - 5 588 c.589C>T c.(589-591)Cgg>Tgg p.R197W GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 35 Prostate(69;0.059) GTGGGGTCCCGGCTGTCGTCC 0.602000 0 SO:0001583 missense ENST00000262895.3 1 1 hg19 CCDS12595.1 . . . . . . . . . . G 15.65 2.894921 0.52121 . . ENSG00000105737 ENST00000262895;ENST00000301218 D;D 0.83163 -1.69;-1.69 4.64 4.64 0.57946 Extracellular ligand-binding receptor (1); 0.635417 0.15154 N 0.277543 T 0.71005 0.3289 N 0.16478 0.41 0.40112 D 0.976504 B 0.18166 0.026 B 0.15052 0.012 T 0.69143 -0.5223 10 0.59425 D 0.04 . 10.6544 0.45667 0.0:0.0:0.6912:0.3088 . 197 Q16478 GRIK5_HUMAN W 197 ENSP00000262895:R197W;ENSP00000301218:R197W ENSP00000262895:R197W R - 1 2 GRIK5 47255439 1.000000 0.71417 1.000000 0.80357 0.949000 0.60115 3.442000 0.52900 2.289000 0.77006 0.561000 0.74099 CGG TCGA-IB-7645-01A-22D-2201-08 GRIK5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463453.1 1 0 0 34 451 0 98 0 1.858812e-01 0 11 0 98 2 0 0 0 0 0 2 1 1.000000 35 445 0 98 2 0 0 0 0 98 2 -3.221879 1 1 121412 2 36 1 1 2 3 2.093694 0 0.140000 1.990000 0.165697 0.990000 0.740000 1.000000 1.000000 0.965084 0.990000 1 0.900000 1.000000 NLRP5 126206 broad.mit.edu 37 19 56538511 56538511 + Silent SNP G G T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr19:56538511G>T ENST00000390649.3 + 7 912 c.912G>T c.(910-912)gcG>gcT p.A304A NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) TGTGCTGGGCGCAAGGTGGAC 0.562000 0 SO:0001819 synonymous_variant ENST00000390649.3 0 1 hg19 CCDS12938.1 TCGA-IB-7645-01A-22D-2201-08 NLRP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313735.1 1 0 0 5 60 0 22 0 0 0 0 22 2 0 0 0 0 0 2 1 0.940103 5 60 0 22 2 0 0 0 0 22 2 -9.747625 1 1 121032 1 30 1 2 2 4 2.109478 1 0.140000 1.990000 0.187760 0.990000 0.510000 1.000000 1.000000 0.941516 0.990000 1 0.850000 1.000000 KPRP 448834 broad.mit.edu 37 1 152732688 152732688 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:152732688C>T ENST00000606109.1 + 1 652 c.624C>T c.(622-624)ttC>ttT p.F208F KPRP_ENST00000368773.1_Silent_p.F208F Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCCCAGTTCCAGTTGAGGC 0.562000 0 SO:0001819 synonymous_variant ENST00000606109.1 1 1 hg19 CCDS30862.1 TCGA-IB-7645-01A-22D-2201-08 KPRP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034522.2 0 0 0 57 840 0 208 0 0 0 0 208 2 0 0 0 0 0 2 1 1.000000 54 826 0 205 2 0 0 0 0 208 2 -9.648430 1 1 0 0 1 1 2 3 2.179986 1 0.140000 1.990000 0.196262 0.970000 0.740000 1.000000 1.000000 0.940170 0.970000 1 0.850000 1.000000 CROCC 9696 broad.mit.edu 37 1 17250968 17250968 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:17250968C>T ENST00000375541.5 + 3 414 c.345C>T c.(343-345)agC>agT p.S115S CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 ciliary rootlet coiled-coil, rootletin 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) ATGCGGTCAGCGAGAGGGTGG 0.647000 0 SO:0001819 synonymous_variant ENST00000375541.5 1 1 hg19 CCDS30616.1 TCGA-IB-7645-01A-22D-2201-08 CROCC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006249.2 1 0 0 6 134 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 0.965253 6 133 0 31 2 0 0 0 0 31 2 -4.195441 1 1 121368 20 38 1 1 2 3 2.008615 0 0.140000 1.990000 0.145384 0.670000 0.270000 1.000000 1.000000 0.686562 0.670000 0 0.440000 1.000000 MYOG 4656 broad.mit.edu 37 1 203054999 203054999 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:203054999C>T ENST00000241651.4 - 1 165 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_002479.5 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) p.E31K(1) 12 CCTGGTGGTTCGAAGCCCTGG 0.637000 1 Substitution - Missense(1) SO:0001583 missense ENST00000241651.4 1 1 hg19 CCDS1433.1 . . . . . . . . . . c 26.8 4.774527 0.90108 . . ENSG00000122180 ENST00000241651 T 0.80214 -1.35 5.68 5.68 0.88126 Myogenic basic muscle-specific protein (2); 0.401828 0.27654 N 0.018407 T 0.78672 0.4320 M 0.74258 2.255 0.58432 D 0.999994 B 0.33612 0.419 B 0.27170 0.077 T 0.79926 -0.1597 10 0.66056 D 0.02 . 13.0541 0.58969 0.0:0.9267:0.0:0.0733 . 31 P15173 MYOG_HUMAN K 31 ENSP00000241651:E31K ENSP00000241651:E31K E - 1 0 MYOG 201321622 1.000000 0.71417 0.997000 0.53966 0.915000 0.54546 5.539000 0.67199 2.679000 0.91253 0.558000 0.71614 GAA TCGA-IB-7645-01A-22D-2201-08 MYOG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000100279.1 0 0 0 8 289 0 70 0 0 0 0 70 2 0 0 0 0 0 2 1 0.988403 8 281 0 69 2 0 0 0 0 70 2 -3.587750 1 1 121412 5 37 1 1 2 3 2.183099 1 0.140000 1.990000 0.196262 0.430000 0.200000 0.760000 0.400000 0.453646 0.430000 0 0.300000 0.590000 CR1 1378 broad.mit.edu 37 1 207669664 207669664 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:207669664G>A ENST00000367049.4 + 1 52 c.52G>A c.(52-54)Ggt>Agt p.G18S CR1_ENST00000367051.1_Missense_Mutation_p.G18S|CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.G18S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 82 GCCGGCGCCCGGTCTCCCCTT 0.662000 0 SO:0001583 missense ENST00000367049.4 1 1 hg19 CCDS44308.1 . . . . . . . . . . G 4.819 0.152215 0.09185 . . ENSG00000203710 ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049 T;T;T;T;T;T 0.30448 1.55;1.68;1.55;1.55;1.71;1.53 3.35 -6.11 0.02131 . . . . . T 0.10723 0.0262 N 0.08118 0 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.34725 -0.9817 9 0.10902 T 0.67 . 6.0568 0.19816 0.0:0.1689:0.4:0.4311 . 18;18;18;18 Q5SR44;E9PQN4;P17927;E9PDY4 .;.;CR1_HUMAN;. S 18 ENSP00000356019:G18S;ENSP00000356018:G18S;ENSP00000356020:G18S;ENSP00000383744:G18S;ENSP00000436139:G18S;ENSP00000356016:G18S ENSP00000356016:G18S G + 1 0 CR1 205736287 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -2.223000 0.01214 -1.493000 0.01835 -0.203000 0.12734 GGT TCGA-IB-7645-01A-22D-2201-08 CR1-012 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382527.1 1 0 0 11 148 0 51 0 0 0 1 0 51 2 0 0 0 0 0 2 1 0.997955 11 139 0 47 2 0 0 0 0 51 2 -15.055510 1 1 0 0 1 1 2 3 2.183099 1 0.140000 1.990000 0.196262 0.990000 0.580000 1.000000 1.000000 0.929065 0.990000 1 0.800000 1.000000 LAMB3 3914 broad.mit.edu 37 1 209799234 209799234 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:209799234C>T ENST00000356082.4 - 14 1869 c.1735G>A c.(1735-1737)Gtg>Atg p.V579M LAMB3_ENST00000391911.1_Missense_Mutation_p.V579M|LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M|MIR4260_ENST00000583107.1_RNA NM_000228.2 NP_000219.2 Q13751 LAMB3_HUMAN laminin, beta 3 45 TGGCAGGCCACGCACACCGGG 0.667000 0 SO:0001583 missense ENST00000356082.4 1 1 hg19 CCDS1487.1 . . . . . . . . . . C 12.61 1.988775 0.35131 . . ENSG00000196878 ENST00000391911;ENST00000356082;ENST00000367030 T;T;T 0.55588 0.51;0.51;0.51 5.24 3.17 0.36434 EGF-like, laminin (2); 0.654291 0.16212 N 0.224446 T 0.57080 0.2029 L 0.38953 1.18 0.22479 N 0.999064 D 0.89917 1.0 D 0.66602 0.945 T 0.41520 -0.9504 10 0.46703 T 0.11 . 8.3866 0.32503 0.0:0.6207:0.2998:0.0795 . 579 Q13751 LAMB3_HUMAN M 579 ENSP00000375778:V579M;ENSP00000348384:V579M;ENSP00000355997:V579M ENSP00000348384:V579M V - 1 0 LAMB3 207865857 0.030000 0.19436 0.901000 0.35422 0.169000 0.22640 0.404000 0.20999 1.160000 0.42584 0.456000 0.33151 GTG TCGA-IB-7645-01A-22D-2201-08 LAMB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088525.2 1 0 1 7 131 0 38 1 9.953411e-01 51 145 0 38 2 0 0 0 0 0 2 1 0.980483 7 130 0 38 2 0 0 0 0 38 2 -10.628510 1 1 121386 1 25 1 1 2 3 2.183099 1 0.140000 1.990000 0.196262 0.800000 0.360000 1.000000 1.000000 0.788214 0.800000 0 0.550000 1.000000 OR2T10 127069 broad.mit.edu 37 1 248756293 248756293 + Nonsense_Mutation SNP G G C TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:248756293G>C ENST00000330500.2 - 1 807 c.777C>G c.(775-777)taC>taG p.Y259* Y_RNA_ENST00000364732.1_RNA NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGGGAGCATGTAGTTGTAAA 0.438000 0 SO:0001587 stop_gained ENST00000330500.2 0 1 hg19 CCDS31121.1 . . . . . . . . . . . 8.049 0.765657 0.15983 . . ENSG00000184022 ENST00000330500 . . . 2.35 1.41 0.22369 . . . . . . . . . . . 0.48830 D 0.999716 . . . . . . . . . . 0.02654 T 1 . 4.6709 0.12689 0.4638:0.0:0.5362:0.0 . . . . X 259 . ENSP00000329210:Y259X Y - 3 2 OR2T10 246822916 0.000000 0.05858 0.755000 0.31263 0.104000 0.19210 -0.746000 0.04829 0.183000 0.20059 -0.409000 0.06214 TAC TCGA-IB-7645-01A-22D-2201-08 OR2T10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097139.1 1 0 0 24 262 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 1.000000 24 260 0 45 2 0 0 0 0 45 2 -20.000000 1 1 0 0 1 1 2 3 2.183099 1 0.140000 1.990000 0.196262 0.990000 0.850000 1.000000 1.000000 0.990400 0.990000 1 0.990000 1.000000 DLGAP3 58512 broad.mit.edu 37 1 35370343 35370343 + Silent SNP C C T rs142633506 TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:35370343C>T ENST00000373347.1 - 3 910 c.642G>A c.(640-642)ccG>ccA p.P214P DLGAP3_ENST00000235180.4_Silent_p.P214P|DLGAP3_ENST00000495979.1_5'Flank O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 46 Myeloproliferative disorder(586;0.0393) CTCCAGAGCCCGGGCCGGGGT 0.652000 0 SO:0001819 synonymous_variant ENST00000373347.1 1 1 hg19 CCDS30670.1 TCGA-IB-7645-01A-22D-2201-08 DLGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011554.1 1 0 0 24 301 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 1.000000 24 296 0 63 2 0 0 0 0 64 2 -2.966613 1 1 121412 18 44 1 1 2 3 2.008615 0 0.140000 1.990000 0.145384 0.990000 0.710000 1.000000 1.000000 0.956571 0.990000 1 0.870000 1.000000 BMP8A 353500 broad.mit.edu 37 1 39988771 39988771 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:39988771C>T ENST00000331593.5 + 6 1387 c.1041C>T c.(1039-1041)caC>caT p.H347H RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCACCAACCACGCCATCCTGC 0.677000 0 SO:0001819 synonymous_variant ENST00000331593.5 1 1 hg19 CCDS437.1 TCGA-IB-7645-01A-22D-2201-08 BMP8A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023079.1 0 0 0 26 786 0 205 0 6.358229e-01 0 66 0 205 2 0 0 0 0 0 2 1 1.000000 25 768 0 201 2 0 0 0 0 205 2 -3.633741 1 1 121412 6 42 1 1 2 3 2.008615 0 0.140000 1.990000 0.145384 0.470000 0.310000 1.000000 0.460000 0.511683 0.470000 0 0.380000 0.600000 SLC44A5 204962 broad.mit.edu 37 1 75685021 75685021 + Missense_Mutation SNP G G A rs148437935 by1000genomes TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr1:75685021G>A ENST00000370855.5 - 16 1300 c.1187C>T c.(1186-1188)gCg>gTg p.A396V SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 p.A396V(1) 61 CCCCGATGTCGCCAAGAAACT 0.393000 1 Substitution - Missense(1) SO:0001583 missense ENST00000370855.5 1 1 hg19 CCDS667.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 19.18 3.778685 0.70107 . . ENSG00000137968 ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790 T;T;T 0.22945 1.93;1.93;1.93 5.04 5.04 0.67666 . 0.216170 0.47852 D 0.000216 T 0.40398 0.1115 M 0.83118 2.625 0.80722 D 1 D;D;D;D;D 0.65815 0.99;0.991;0.99;0.995;0.988 P;P;P;P;P 0.57324 0.818;0.745;0.818;0.807;0.629 T 0.24941 -1.0146 10 0.27082 T 0.32 -12.0802 18.7654 0.91869 0.0:0.0:1.0:0.0 . 390;435;396;396;435 B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0 .;.;CTL5_HUMAN;.;. V 396;435;396;266;389 ENSP00000359896:A396V;ENSP00000359892:A396V;ENSP00000443090:A266V ENSP00000359892:A396V A - 2 0 SLC44A5 75457609 1.000000 0.71417 0.998000 0.56505 0.103000 0.19146 7.142000 0.77339 2.504000 0.84457 0.655000 0.94253 GCG TCGA-IB-7645-01A-22D-2201-08 SLC44A5-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000026921.1 0 0 0 12 306 0 89 1 1.612779e-02 3 2 0 89 2 0 0 0 0 0 2 1 0.999128 12 304 0 88 2 0 0 0 0 89 2 -3.026999 1 1 121392 10 41 1 1 2 3 2.008615 0 0.140000 1.990000 0.145384 0.570000 0.300000 1.000000 0.520000 0.603655 0.570000 0 0.420000 0.790000 ACOT8 10005 broad.mit.edu 37 20 44470483 44470483 + Missense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr20:44470483C>A ENST00000217455.4 - 6 1044 c.954G>T c.(952-954)aaG>aaT p.K318N SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 10 Myeloproliferative disorder(115;0.0122) CTGGCTACAGCTTGCTCTCTG 0.597000 0 SO:0001583 missense ENST00000217455.4 0 1 hg19 CCDS13378.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 14.55|14.55 2.567729|2.567729 0.45798|0.45798 .|. .|. ENSG00000101473|ENSG00000101473 ENST00000217455|ENST00000487205 .|. .|. .|. 5.02|5.02 3.08|3.08 0.35506|0.35506 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.69975|0.69975 0.3171|0.3171 M|M 0.75085|0.75085 2.285|2.285 0.58432|0.58432 D|D 0.999998|0.999998 P|. 0.52577|. 0.954|. P|. 0.47981|. 0.563|. T|T 0.67941|0.67941 -0.5540|-0.5540 9|5 0.87932|. D|. 0|. .|. 10.304|10.304 0.43670|0.43670 0.0:0.7778:0.0:0.2222|0.0:0.7778:0.0:0.2222 .|. 318|. O14734|. ACOT8_HUMAN|. N|I 318|208 .|. ENSP00000217455:K318N|. K|S -|- 3|2 2|0 ACOT8|ACOT8 43903890|43903890 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.245000|0.245000 0.25701|0.25701 1.271000|1.271000 0.33098|0.33098 0.694000|0.694000 0.31654|0.31654 0.561000|0.561000 0.74099|0.74099 AAG|AGC TCGA-IB-7645-01A-22D-2201-08 ACOT8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080338.2 0 0 0 3 63 0 22 0 8.346854e-01 0 71 0 22 2 0 0 0 0 0 2 1 0.797565 2 61 0 22 2 0 0 0 0 22 2 -7.172712 1 0 0 0 1 1 2 3 2.030310 0 0.140000 1.990000 0.150114 0.790000 0.220000 1.000000 1.000000 0.746488 0.790000 0 0.440000 1.000000 UBASH3A 53347 broad.mit.edu 37 21 43838614 43838614 + Silent SNP C C T rs147873921 TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr21:43838614C>T ENST00000319294.6 + 7 973 c.942C>T c.(940-942)agC>agT p.S314S RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000398367.1_Silent_p.S276S|UBASH3A_ENST00000291535.6_Silent_p.S276S NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A p.S314R(1) 28 ACGAAGCCAGCGAGGGCTGGG 0.592000 1 Substitution - Missense(1) SO:0001819 synonymous_variant ENST00000319294.6 1 1 hg19 CCDS13687.1 TCGA-IB-7645-01A-22D-2201-08 UBASH3A-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000195382.1 1 0 0 17 313 0 99 0 1.761426e-01 0 14 0 99 2 0 0 0 0 0 2 1 0.999961 17 305 0 97 2 0 0 0 0 99 2 -18.525560 1 1 121412 4 40 1 0 0 0 1.955375 0 0.140000 1.990000 0.115226 0.710000 0.430000 1.000000 1.000000 0.729180 0.710000 0 0.560000 0.890000 THSD7B 80731 broad.mit.edu 37 2 138030171 138030171 + Missense_Mutation SNP T T A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:138030171T>A ENST00000409968.1 + 11 2513 c.2335T>A c.(2335-2337)Tgc>Agc p.C779S THSD7B_ENST00000272643.3_Missense_Mutation_p.C779S|THSD7B_ENST00000413152.2_Missense_Mutation_p.C748S|THSD7B_ENST00000543459.1_Intron Q9C0I4 THS7B_HUMAN thrombospondin, type I, domain containing 7B 134 AGGCCAGGAATGCCCAGATAC 0.393000 0 SO:0001583 missense ENST00000409968.1 0 1 hg19 . . . . . . . . . . T 26.9 4.780563 0.90195 . . ENSG00000144229 ENST00000409968;ENST00000272643;ENST00000413152 T;T;T 0.25579 1.79;1.79;1.79 5.72 5.72 0.89469 . 0.000000 0.85682 D 0.000000 T 0.59702 0.2213 M 0.91561 3.22 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.97110 1.0;0.964 T 0.67696 -0.5604 10 0.51188 T 0.08 . 14.9927 0.71401 0.0:0.0:0.0:1.0 . 779;748 Q9C0I4;C9JKN6 THS7B_HUMAN;. S 779;779;748 ENSP00000387145:C779S;ENSP00000272643:C779S;ENSP00000413841:C748S ENSP00000272643:C779S C + 1 0 THSD7B 137746641 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.047000 0.76599 2.171000 0.68590 0.533000 0.62120 TGC TCGA-IB-7645-01A-22D-2201-08 THSD7B-001 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000331769.2 0 0 0 5 111 0 22 0 1.113720e-01 0 11 0 22 2 0 0 0 0 0 2 1 0.938939 5 111 0 22 2 0 0 0 0 22 2 -8.835941 1 1 0 0 1 0 0 0 1.963329 0 0.140000 1.990000 0.119033 0.620000 0.240000 1.000000 1.000000 0.645698 0.620000 0 0.400000 0.910000 LRP2 4036 broad.mit.edu 37 2 170177381 170177381 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:170177381C>T ENST00000263816.3 - 2 378 c.93G>A c.(91-93)gcG>gcA p.A31A LRP2_ENST00000443831.1_Silent_p.A31A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 p.A31A(1) 315 """Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)" AGCGAAAATGCGCACTGTCAC 0.388000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000263816.3 1 1 hg19 CCDS2232.1 TCGA-IB-7645-01A-22D-2201-08 LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 1 0 0 17 350 0 73 0 0 0 0 73 2 0 0 0 0 0 2 1 0.999965 17 346 0 71 2 0 0 0 0 73 2 -4.253675 1 1 121412 3 39 1 0 0 0 1.963329 0 0.140000 1.990000 0.119033 0.640000 0.390000 0.970000 0.640000 0.664811 0.640000 0 0.500000 0.810000 APOB 338 broad.mit.edu 37 2 21233909 21233909 + Missense_Mutation SNP T T C TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:21233909T>C ENST00000233242.1 - 26 5958 c.5831A>G c.(5830-5832)cAt>cGt p.H1944R NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGTAATCATGAGAGAAAGT 0.468000 0 SO:0001583 missense ENST00000233242.1 1 1 hg19 CCDS1703.1 . . . . . . . . . . T 13.08 2.130700 0.37630 . . ENSG00000084674 ENST00000233242;ENST00000535079 T 0.03094 4.05 5.46 5.46 0.80206 . 0.000000 0.64402 D 0.000016 T 0.18130 0.0435 M 0.78049 2.395 0.80722 D 1 D 0.89917 1.0 D 0.68765 0.96 T 0.00239 -1.1888 10 0.62326 D 0.03 . 15.5233 0.75881 0.0:0.0:0.0:1.0 . 1944 P04114 APOB_HUMAN R 1944 ENSP00000233242:H1944R ENSP00000233242:H1944R H - 2 0 APOB 21087414 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 3.315000 0.51951 2.065000 0.61736 0.454000 0.30748 CAT TCGA-IB-7645-01A-22D-2201-08 APOB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207571.1 0 0 0 32 769 0 186 0 0 0 0 186 2 0 0 0 0 0 2 1 1.000000 32 762 0 184 2 0 0 0 0 186 2 -4.661664 1 1 0 0 1 0 0 0 1.956022 0 0.140000 1.990000 0.116499 0.550000 0.380000 0.750000 0.550000 0.566061 0.550000 0 0.460000 0.660000 FN1 2335 broad.mit.edu 37 2 216271856 216271856 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:216271856G>A ENST00000359671.1 - 18 2972 c.2707C>T c.(2707-2709)Cgc>Tgc p.R903C FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000336916.4_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000354785.4_Missense_Mutation_p.R903C P02751 FINC_HUMAN fibronectin 1 FN1/ALK(2) 109 Renal(323;0.127) Ocriplasmin(DB08888) TTACCTGAGCGTGGGGTGCCA 0.408000 0 SO:0001583 missense ENST00000359671.1 1 1 hg19 . . . . . . . . . . G 11.57 1.676889 0.29783 . . ENSG00000115414 ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005 T;T;T;T;T;T;T;T;T;T;T;T;T 0.49139 0.79;2.17;2.35;0.88;2.42;2.06;2.39;2.05;2.35;2.09;1.56;0.87;1.46 5.47 4.59 0.56863 . 0.100271 0.45361 D 0.000372 T 0.61009 0.2313 L 0.47716 1.5 0.09310 N 0.999992 D;D;D;D;D;D;D;D;D;D 0.89917 0.999;0.998;1.0;1.0;1.0;0.987;1.0;1.0;0.976;0.996 P;P;D;D;P;P;D;D;P;P 0.70487 0.888;0.886;0.962;0.969;0.899;0.781;0.915;0.969;0.814;0.814 T 0.56920 -0.7899 10 0.87932 D 0 . 14.258 0.66065 0.0:0.0:0.7303:0.2697 . 903;903;903;903;903;903;903;903;903;903 P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15 .;.;.;.;.;.;.;.;.;. C 903 ENSP00000394423:R903C;ENSP00000323534:R903C;ENSP00000338200:R903C;ENSP00000350534:R903C;ENSP00000346839:R903C;ENSP00000352696:R903C;ENSP00000265312:R903C;ENSP00000273049:R903C;ENSP00000349509:R903C;ENSP00000410422:R903C;ENSP00000415018:R903C;ENSP00000399538:R903C;ENSP00000348285:R903C ENSP00000265313:R903C R - 1 0 FN1 215980101 0.331000 0.24713 0.660000 0.29694 0.056000 0.15407 2.273000 0.43381 1.272000 0.44329 0.655000 0.94253 CGC TCGA-IB-7645-01A-22D-2201-08 FN1-204 KNOWN basic protein_coding protein_coding 1 0 0 17 414 0 96 0 1 0 2342 0 96 2 0 0 0 0 0 2 1 0.999963 17 408 0 95 2 0 0 0 0 96 2 -4.058689 1 1 0 0 1 0 0 0 1.976401 0 0.140000 1.990000 0.125305 0.550000 0.330000 0.840000 0.550000 0.574281 0.550000 0 0.430000 0.700000 CCDC108 255101 broad.mit.edu 37 2 219890812 219890812 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:219890812C>T ENST00000341552.5 - 14 2364 c.2281G>A c.(2281-2283)Gca>Aca p.A761T CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 80 Renal(207;0.0915) TGGCCTCGTGCCCGCACCGTC 0.597000 0 SO:0001583 missense ENST00000341552.5 1 1 hg19 CCDS2430.2 . . . . . . . . . . C 7.441 0.640609 0.14386 . . ENSG00000181378 ENST00000341552;ENST00000441968;ENST00000453220 T;T;T 0.05580 3.42;3.42;3.42 4.87 3.09 0.35607 . 0.461082 0.18270 N 0.146344 T 0.04363 0.0120 L 0.38838 1.175 0.09310 N 1 B 0.28512 0.214 B 0.24701 0.055 T 0.42275 -0.9461 10 0.15952 T 0.53 -1.4645 3.8598 0.08991 0.1251:0.5849:0.1362:0.1538 . 761 Q6ZU64 CC108_HUMAN T 761 ENSP00000340776:A761T;ENSP00000413377:A761T;ENSP00000409117:A761T ENSP00000340776:A761T A - 1 0 CCDC108 219599056 0.004000 0.15560 0.001000 0.08648 0.273000 0.26683 1.552000 0.36244 0.671000 0.31185 -0.224000 0.12420 GCA TCGA-IB-7645-01A-22D-2201-08 CCDC108-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256598.4 0 0 0 11 263 0 70 0 0 0 0 70 2 0 0 0 0 0 2 1 0.998361 10 262 0 70 2 0 0 0 0 70 2 -4.037210 1 1 0 0 1 0 0 0 1.976401 0 0.140000 1.990000 0.125305 0.570000 0.300000 0.930000 0.550000 0.593751 0.570000 0 0.420000 0.750000 REG3A 5068 broad.mit.edu 37 2 79384703 79384703 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:79384703C>T ENST00000409839.3 - 5 491 c.455G>A c.(454-456)aGc>aAc p.S152N REG3A_ENST00000305165.2_Missense_Mutation_p.S152N|REG3A_ENST00000393878.1_Missense_Mutation_p.S152N|AC011754.1_ENST00000415201.1_RNA NM_002580.2|NM_138937.2 NP_002571.1|NP_620354.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 50 CTTACCTGTGCTTCTCGACAG 0.512000 0 SO:0001583 missense ENST00000409839.3 1 1 hg19 CCDS1965.1 . . . . . . . . . . C 3.186 -0.166825 0.06461 . . ENSG00000172016 ENST00000409839;ENST00000393878;ENST00000305165 T;T;T 0.18810 2.19;2.19;2.19 3.87 -7.73 0.01245 C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3); 1.045080 0.07478 N 0.903419 T 0.11367 0.0277 L 0.38733 1.17 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.19976 -1.0289 10 0.15499 T 0.54 . 4.6128 0.12411 0.0829:0.1018:0.2213:0.594 . 152 Q06141 REG3A_HUMAN N 152 ENSP00000386630:S152N;ENSP00000377456:S152N;ENSP00000304311:S152N ENSP00000304311:S152N S - 2 0 REG3A 79238211 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -3.756000 0.00374 -3.453000 0.00160 -1.185000 0.01705 AGC TCGA-IB-7645-01A-22D-2201-08 REG3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252290.2 0 0 0 26 613 0 134 0 6.480576e-01 0 53 0 134 2 0 0 0 0 0 2 1 1.000000 24 578 0 124 2 0 0 0 0 134 2 -4.259523 1 1 0 0 1 0 0 0 1.956022 0 0.140000 1.990000 0.116499 0.560000 0.370000 0.790000 0.560000 0.578771 0.560000 0 0.460000 0.680000 TMEM131 23505 broad.mit.edu 37 2 98430514 98430514 + Missense_Mutation SNP G G T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:98430514G>T ENST00000186436.5 - 15 1765 c.1537C>A c.(1537-1539)Cac>Aac p.H513N NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 57 TTATCAATGTGCATGGATGAT 0.348000 0 SO:0001583 missense ENST00000186436.5 0 1 hg19 CCDS46368.1 . . . . . . . . . . G 25.2 4.615698 0.87359 . . ENSG00000075568 ENST00000186436 T 0.29917 1.55 5.81 5.81 0.92471 . 0.000000 0.85682 D 0.000000 T 0.33556 0.0867 L 0.51422 1.61 0.80722 D 1 P 0.40578 0.722 B 0.42625 0.393 T 0.04635 -1.0937 10 0.08179 T 0.78 -7.5095 20.0784 0.97758 0.0:0.0:1.0:0.0 . 513 Q92545 TM131_HUMAN N 513 ENSP00000186436:H513N ENSP00000186436:H513N H - 1 0 TMEM131 97796946 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 9.022000 0.93678 2.736000 0.93811 0.655000 0.94253 CAC TCGA-IB-7645-01A-22D-2201-08 TMEM131-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329285.2 1 0 1 6 60 0 16 1 9.183996e-01 12 36 0 16 2 0 0 0 0 0 2 1 0.967376 6 60 0 16 2 0 0 0 0 16 2 -11.504210 1 1 0 0 1 0 0 0 1.963329 0 0.140000 1.990000 0.119033 0.990000 0.520000 1.000000 1.000000 0.926955 0.990000 1 0.790000 1.000000 TMEM131 23505 broad.mit.edu 37 2 98430515 98430515 + Missense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr2:98430515C>A ENST00000186436.5 - 15 1764 c.1536G>T c.(1534-1536)atG>atT p.M512I NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 57 TATCAATGTGCATGGATGATG 0.348000 0 SO:0001583 missense ENST00000186436.5 0 0 hg19 CCDS46368.1 . . . . . . . . . . C 5.674 0.308987 0.10733 . . ENSG00000075568 ENST00000186436 T 0.28069 1.63 5.81 1.59 0.23543 . 0.265412 0.43919 N 0.000513 T 0.06234 0.0161 N 0.00926 -1.1 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.30736 -0.9968 10 0.02654 T 1 -12.6824 1.8007 0.03071 0.2505:0.4248:0.1015:0.2232 . 512 Q92545 TM131_HUMAN I 512 ENSP00000186436:M512I ENSP00000186436:M512I M - 3 0 TMEM131 97796947 0.940000 0.31905 1.000000 0.80357 0.991000 0.79684 0.035000 0.13797 0.810000 0.34279 -0.126000 0.14955 ATG TCGA-IB-7645-01A-22D-2201-08 TMEM131-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329285.2 1 0 1 7 60 0 17 1 9.501763e-01 12 37 0 17 2 0 0 0 0 0 2 1 0.982577 7 60 0 17 2 0 0 0 0 17 2 -6.232596 1 1 0 0 1 0 0 0 1.963329 0 0.140000 1.990000 0.119033 0.990000 0.610000 1.000000 1.000000 0.957335 0.990000 1 0.900000 1.000000 MUC20 200958 broad.mit.edu 37 3 195453211 195453211 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr3:195453211C>T ENST00000447234.2 + 2 1863 c.1737C>T c.(1735-1737)gcC>gcT p.A579A MUC20_ENST00000320736.6_Silent_p.A408A|MUC20_ENST00000445522.2_Silent_p.A544A|MUC20_ENST00000436408.1_Silent_p.A579A NM_001282506.1 NP_001269435.1 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) CCTCGGAAGCCGCCCTCAAGA 0.602000 0 SO:0001819 synonymous_variant ENST00000447234.2 0 1 hg19 TCGA-IB-7645-01A-22D-2201-08 MUC20-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000341835.1 0 0 0 10 442 0 104 1 5.530227e-01 5 72 0 104 2 0 0 0 0 0 2 1 0.996809 10 438 0 104 2 0 0 0 0 104 2 -8.872527 1 1 121004 3 31 1 1 3 4 2.491544 1 0.140000 1.990000 0.245614 0.370000 0.180000 0.630000 0.360000 0.391917 0.370000 0 0.270000 0.500000 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr3:38591931C>G ENST00000333535.4 - 28 6081 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) GTGACACTGTCATAGGAGGGT 0.602000 0 SO:0001583 missense ENST00000333535.4 0 1 hg19 CCDS46796.1 . . . . . . . . . . C 18.18 3.565807 0.65651 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.96856 -4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08 4.95 4.95 0.65309 . 0.058474 0.64402 D 0.000003 D 0.95529 0.8547 N 0.08118 0 0.54753 D 0.999986 D;D;P;D;D;D 0.89917 0.959;1.0;0.64;0.999;0.958;1.0 P;D;B;D;P;D 0.85130 0.496;0.997;0.387;0.973;0.693;0.996 D 0.97067 0.9775 10 0.62326 D 0.03 . 18.3714 0.90408 0.0:1.0:0.0:0.0 . 1924;1945;1960;1978;1977;1978 E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;SCN5A_HUMAN;.;. H 1960;1977;1978;1924;1977;1960;1978;1945;1924;1924 ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H ENSP00000328968:D1978H D - 1 0 SCN5A 38566935 1.000000 0.71417 0.993000 0.49108 0.998000 0.95712 4.781000 0.62389 2.573000 0.86826 0.655000 0.94253 GAC TCGA-IB-7645-01A-22D-2201-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 0 0 0 7 246 1 45 0 0 0 1 45 2 0 0 0 0 0 2 0 0.014791 6 238 1 44 18 0 0 0 1 45 2 -2.700491 1 1 120936 5 16 1 0 1 1 1.883446 1 0.140000 1.990000 0.082177 0.370000 0.170000 0.680000 0.360000 0.401396 0.370000 0 0.260000 0.530000 PBRM1 55193 broad.mit.edu 37 3 52649473 52649473 + Splice_Site SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr3:52649473C>T ENST00000296302.7 - 15 1820 c.e15-1 PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 335 CATTATAAACCTACATTCCAA 0.338000 Mis, N, F, S, D, O clear cell renal carcinoma, breast Rec yes 3 3p21 55193 polybromo 1 E 0 SO:0001630 splice_region_variant ENST00000296302.7 1 1 hg19 . . . . . . . . . . C 15.35 2.806869 0.50421 . . ENSG00000163939 ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103 . . . 5.69 5.69 0.88448 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.8084 0.96538 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . PBRM1 52624513 1.000000 0.71417 0.998000 0.56505 0.452000 0.32318 7.487000 0.81328 2.687000 0.91594 0.462000 0.41574 . TCGA-IB-7645-01A-22D-2201-08 PBRM1-008 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000327232.1 1 0 0 22 252 0 53 0 0 0 1 0 53 2 1 1 88 873 0 690 2 1 0.999999 22 248 0 53 2 0 0 0 0 53 2 -2.774731 1 1 0 0 1 0 1 1 1.883446 1 0.140000 1.990000 0.082177 0.940000 0.650000 1.000000 1.000000 0.911759 0.940000 1 0.790000 1.000000 NDST3 9348 broad.mit.edu 37 4 119161830 119161830 + Missense_Mutation SNP T T C TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr4:119161830T>C ENST00000296499.5 + 11 2673 c.2270T>C c.(2269-2271)gTt>gCt p.V757A NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 54 AGATGGCTTGTTTATTTCCCC 0.458000 0 SO:0001583 missense ENST00000296499.5 1 1 hg19 CCDS3708.1 . . . . . . . . . . T 8.239 0.806313 0.16467 . . ENSG00000164100 ENST00000296499 T 0.50548 0.74 5.49 2.98 0.34508 Sulfotransferase domain (1); 0.452871 0.23700 N 0.045428 T 0.11067 0.0270 N 0.00595 -1.35 0.80722 D 1 B 0.02656 0.0 B 0.06405 0.002 T 0.27673 -1.0067 10 0.09084 T 0.74 . 1.7572 0.02984 0.2575:0.2262:0.0:0.5164 . 757 O95803 NDST3_HUMAN A 757 ENSP00000296499:V757A ENSP00000296499:V757A V + 2 0 NDST3 119381278 0.999000 0.42202 1.000000 0.80357 0.971000 0.66376 2.840000 0.48215 2.212000 0.71576 0.533000 0.62120 GTT TCGA-IB-7645-01A-22D-2201-08 NDST3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256517.4 1 0 0 20 269 0 58 0 0 0 0 58 2 0 0 0 0 0 2 1 0.999995 21 263 0 55 2 0 0 0 0 58 2 -19.999940 1 1 0 0 1 1 2 3 2.043156 0 0.140000 1.990000 0.152459 0.990000 0.650000 1.000000 1.000000 0.939037 0.990000 1 0.830000 1.000000 TRPC3 7222 broad.mit.edu 37 4 122853995 122853995 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr4:122853995C>T ENST00000379645.3 - 2 491 c.418G>A c.(418-420)Gtc>Atc p.V140I TRPC3_ENST00000264811.5_Missense_Mutation_p.V67I|TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I NM_001130698.1 NP_001124170.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 51 ACGCAGTTGACGTTCAGCGTC 0.637000 0 SO:0001583 missense ENST00000379645.3 1 1 hg19 CCDS47130.1 . . . . . . . . . . C 17.26 3.344029 0.61073 . . ENSG00000138741 ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968 T;T;T;T 0.70631 -0.5;-0.5;-0.5;0.24 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 T 0.56572 0.1994 N 0.11698 0.16 0.48395 D 0.999648 B;P 0.39404 0.322;0.672 B;B 0.41466 0.131;0.358 T 0.55321 -0.8159 10 0.06236 T 0.91 -30.807 20.3932 0.98965 0.0:1.0:0.0:0.0 . 67;140 E9PCJ9;Q5G1L5 .;. I 67;140;67;67 ENSP00000264811:V67I;ENSP00000368966:V140I;ENSP00000426899:V67I;ENSP00000422214:V67I ENSP00000264811:V67I V - 1 0 TRPC3 123073445 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.313000 0.51935 2.824000 0.97209 0.655000 0.94253 GTC TCGA-IB-7645-01A-22D-2201-08 TRPC3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364252.1 0 0 0 8 279 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.988704 8 273 0 75 2 0 0 0 0 75 2 -8.654845 1 1 121410 1 26 1 1 2 3 2.043156 0 0.140000 1.990000 0.152459 0.450000 0.200000 1.000000 0.400000 0.530438 0.450000 0 0.300000 0.940000 KIAA1109 84162 broad.mit.edu 37 4 123168391 123168391 + Silent SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr4:123168391G>A ENST00000264501.4 + 35 5764 c.5391G>A c.(5389-5391)aaG>aaA p.K1797K KIAA1109_ENST00000455637.1_Silent_p.K1797K|KIAA1109_ENST00000388738.3_Silent_p.K1797K Q2LD37 K1109_HUMAN KIAA1109 p.K1797N(1) 172 ATGCCACAAAGATGCAGCCTC 0.393000 1 Substitution - Missense(1) SO:0001819 synonymous_variant ENST00000264501.4 1 1 hg19 CCDS43267.1 . . . . . . . . . . G 9.151 1.016388 0.19355 . . ENSG00000138688 ENST00000446180 . . . 5.77 3.8 0.43715 . . . . . T 0.47930 0.1472 . . . 0.80722 D 1 . . . . . . T 0.43245 -0.9403 4 . . . . 4.272 0.10791 0.4492:0.0:0.5508:0.0 . . . . K 370 . . R + 2 0 KIAA1109 123387841 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.004000 0.49513 1.449000 0.47699 0.585000 0.79938 AGA TCGA-IB-7645-01A-22D-2201-08 KIAA1109-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316415.1 0 0 0 12 361 0 60 1 1.077092e-01 4 12 0 60 2 0 0 0 0 0 2 1 0.999077 12 356 0 60 2 0 0 0 0 60 2 -12.036700 1 1 0 0 1 1 2 3 2.043156 0 0.140000 1.990000 0.152459 0.510000 0.260000 1.000000 0.460000 0.574547 0.510000 0 0.370000 0.940000 JAKMIP1 152789 broad.mit.edu 37 4 6114531 6114531 + Missense_Mutation SNP G G A rs148302835 byFrequency TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr4:6114531G>A ENST00000282924.5 - 2 532 c.47C>T c.(46-48)aCg>aTg p.T16M JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M NM_144720.3 NP_653321.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 42 CACCGCGTCCGTCTCCATCTC 0.607000 0 SO:0001583 missense ENST00000282924.5 1 1 hg19 CCDS3385.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 4.194 0.034762 0.08101 0.001362 0.0 ENSG00000152969 ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077 T;T;T;T;T 0.30448 1.94;1.53;1.94;1.94;1.53 3.94 0.904 0.19302 . 0.626666 0.14992 N 0.286656 T 0.10637 0.0260 N 0.02011 -0.69 0.09310 N 1 B;B;B;B;B 0.15719 0.014;0.002;0.014;0.014;0.005 B;B;B;B;B 0.09377 0.003;0.002;0.004;0.003;0.004 T 0.27020 -1.0086 10 0.33940 T 0.23 . 7.349 0.26680 0.507:0.0:0.493:0.0 . 16;16;16;16;16 B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16 .;.;.;.;JKIP1_HUMAN M 16 ENSP00000386711:T16M;ENSP00000387042:T16M;ENSP00000282924:T16M;ENSP00000386925:T16M;ENSP00000386745:T16M ENSP00000282924:T16M T - 2 0 JAKMIP1 6165432 0.008000 0.16893 0.117000 0.21633 0.587000 0.36485 1.445000 0.35079 0.316000 0.23135 0.591000 0.81541 ACG TCGA-IB-7645-01A-22D-2201-08 JAKMIP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000246816.2 1 0 0 31 329 0 79 0 1.226326e-01 0 7 0 79 2 0 0 0 0 0 2 1 1.000000 31 326 0 78 2 0 0 0 0 79 2 -20.000000 1 1 121412 31 47 1 1 2 3 2.043156 0 0.140000 1.990000 0.152459 0.990000 0.880000 1.000000 1.000000 0.992786 0.990000 1 0.990000 1.000000 C7 730 broad.mit.edu 37 5 40947725 40947725 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr5:40947725G>A ENST00000313164.9 + 8 1119 c.760G>A c.(760-762)Gag>Aag p.E254K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 Ovarian(839;0.0112) GCTGGTTGTTGAGAACACTGT 0.408000 0 SO:0001583 missense ENST00000313164.9 0 1 hg19 CCDS47201.1 . . . . . . . . . . G 0.158 -1.083866 0.01888 . . ENSG00000112936 ENST00000313164;ENST00000515157 D 0.81821 -1.54 5.9 4.05 0.47172 Membrane attack complex component/perforin (MACPF) domain (3); 0.235442 0.44483 D 0.000452 T 0.50480 0.1618 N 0.01464 -0.85 0.25030 N 0.991275 B 0.10296 0.003 B 0.15052 0.012 T 0.39272 -0.9622 10 0.02654 T 1 -10.741 10.8024 0.46495 0.1164:0.5032:0.3804:0.0 . 254 P10643 CO7_HUMAN K 254 ENSP00000322061:E254K ENSP00000322061:E254K E + 1 0 C7 40983482 1.000000 0.71417 0.982000 0.44146 0.213000 0.24496 1.445000 0.35079 1.452000 0.47756 -0.219000 0.12488 GAG TCGA-IB-7645-01A-22D-2201-08 C7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317680.1 0 0 0 6 144 0 22 0 9.999865e-01 0 821 0 22 2 0 0 0 0 0 2 1 0.964486 6 142 0 22 2 0 0 0 0 22 2 -3.098626 1 1 0 0 1 1 2 3 2.004972 0 0.140000 1.990000 0.144789 0.620000 0.250000 1.000000 1.000000 0.649246 0.620000 0 0.410000 0.940000 KIAA0947 0 broad.mit.edu 37 5 5469027 5469027 + Missense_Mutation SNP A A G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr5:5469027A>G ENST00000296564.7 + 15 6370 c.6148A>G c.(6148-6150)Atg>Gtg p.M2050V NM_015325.2 NP_056140.1 Q9Y2F5 ICE1_HUMAN 35 TAATAAAGCAATGCAGTTAGT 0.363000 0 SO:0001583 missense ENST00000296564.7 1 1 hg19 CCDS47187.1 . . . . . . . . . . A 15.69 2.909390 0.52439 . . ENSG00000164151 ENST00000296564 T 0.11169 2.8 5.86 5.86 0.93980 . . . . . T 0.12220 0.0297 L 0.54323 1.7 0.36006 D 0.837716 P 0.42078 0.77 B 0.38683 0.279 T 0.11397 -1.0589 9 0.66056 D 0.02 -3.4778 9.5036 0.39033 0.8427:0.0:0.0:0.1573 . 2050 Q9Y2F5 K0947_HUMAN V 2050 ENSP00000296564:M2050V ENSP00000296564:M2050V M + 1 0 KIAA0947 5522027 0.998000 0.40836 0.931000 0.37212 0.985000 0.73830 4.050000 0.57404 2.244000 0.73946 0.528000 0.53228 ATG TCGA-IB-7645-01A-22D-2201-08 KIAA0947-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365575.1 1 0 1 19 387 0 68 1 7.996910e-01 13 50 0 68 2 0 0 0 0 0 2 1 0.999991 19 384 0 68 2 0 0 0 0 68 2 -19.666210 1 1 120808 1 34 1 1 2 3 2.004972 0 0.140000 1.990000 0.144789 0.690000 0.420000 1.000000 1.000000 0.711453 0.690000 0 0.540000 0.890000 SVOPL 136306 broad.mit.edu 37 7 138341226 138341226 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr7:138341226C>T ENST00000419765.3 - 6 534 c.501G>A c.(499-501)acG>acA p.T167T SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000288513.5_Silent_p.T15T|SVOPL_ENST00000421622.1_Intron NM_001139456.1 NP_001132928.1 Q8N434 SVOPL_HUMAN SVOP-like 19 CTCGGTATTTCGTGGGCAAAA 0.353000 0 SO:0001819 synonymous_variant ENST00000419765.3 1 1 hg19 CCDS47721.1 TCGA-IB-7645-01A-22D-2201-08 SVOPL-005 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342092.4 1 0 1 71 591 1 136 0 0 0 1 136 2 0 0 0 0 0 2 1 1.000000 70 585 1 135 17 0 0 0 1 136 2 -3.221883 1 1 121412 4 43 1 2 2 4 2.152758 1 0.140000 1.990000 0.203556 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 TRPV6 55503 broad.mit.edu 37 7 142569526 142569526 + Missense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr7:142569526C>A ENST00000359396.3 - 15 2357 c.2112G>T c.(2110-2112)agG>agT p.R704S NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 42 Melanoma(164;0.059) GCAGGTCTCTCCTCAGGGTCC 0.577000 0 SO:0001583 missense ENST00000359396.3 1 1 hg19 CCDS5874.1 . . . . . . . . . . C 10.40 1.340406 0.24339 . . ENSG00000165125 ENST00000359396;ENST00000311470 T 0.76968 -1.06 5.3 1.03 0.20045 . 0.665359 0.16004 N 0.234172 T 0.61286 0.2335 L 0.36672 1.1 0.09310 N 1 B 0.20887 0.049 B 0.16722 0.016 T 0.40831 -0.9542 10 0.18710 T 0.47 -7.6958 4.8576 0.13566 0.142:0.5057:0.2751:0.0771 . 704 Q9H1D0 TRPV6_HUMAN S 704;536 ENSP00000352358:R704S ENSP00000310825:R536S R - 3 2 TRPV6 142279648 0.000000 0.05858 0.000000 0.03702 0.654000 0.38779 0.010000 0.13242 0.183000 0.20059 0.561000 0.74099 AGG TCGA-IB-7645-01A-22D-2201-08 TRPV6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347662.1 1 0 0 31 407 0 105 0 2.439050e-01 0 13 0 105 2 0 0 0 0 0 2 1 1.000000 31 402 0 102 2 0 0 0 0 105 2 -2.966612 1 1 0 0 1 2 2 4 2.152758 1 0.140000 1.990000 0.203556 0.990000 0.780000 1.000000 1.000000 0.976903 0.990000 1 0.950000 1.000000 MRPS24 64951 broad.mit.edu 37 7 43909090 43909090 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr7:43909090G>A ENST00000317534.5 - 1 66 c.5C>T c.(4-6)gCg>gTg p.A2V MRPS24_ENST00000467084.1_Intron|URGCP-MRPS24_ENST00000603700.1_Intron NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 5 CACGGAGGCCGCCATCTTGGG 0.697000 0 SO:0001583 missense ENST00000317534.5 0 1 hg19 CCDS5473.1 . . . . . . . . . . G 11.42 1.633037 0.29068 2.36E-4 0.0 ENSG00000062582 ENST00000317534 T 0.46451 0.87 4.7 3.81 0.43845 . 0.564481 0.18229 N 0.147626 T 0.33760 0.0874 L 0.41961 1.31 0.30449 N 0.77543 B 0.15719 0.014 B 0.12156 0.007 T 0.28870 -1.0030 10 0.45353 T 0.12 . 8.895 0.35458 0.106:0.0:0.894:0.0 . 2 Q96EL2 RT24_HUMAN V 2 ENSP00000318158:A2V ENSP00000318158:A2V A - 2 0 MRPS24 43875615 1.000000 0.71417 0.496000 0.27539 0.158000 0.22134 2.644000 0.46613 0.938000 0.37419 0.655000 0.94253 GCG TCGA-IB-7645-01A-22D-2201-08 MRPS24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250949.1 0 0 0 3 28 0 10 0 0 0 0 10 2 0 0 0 0 0 2 1 0.790858 3 26 0 10 2 0 0 0 0 10 2 -8.279320 1 1 116506 6 33 1 2 2 4 2.152758 1 0.140000 1.990000 0.203556 0.990000 0.520000 1.000000 1.000000 0.958449 0.990000 1 0.990000 1.000000 PKD1L1 168507 broad.mit.edu 37 7 47944116 47944116 + Missense_Mutation SNP G G A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr7:47944116G>A ENST00000289672.2 - 12 1840 c.1790C>T c.(1789-1791)aCg>aTg p.T597M NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 BBS9/PKD1L1(2) 142 GGAGGGGGACGTGAGCCGATT 0.542000 0 SO:0001583 missense ENST00000289672.2 1 1 hg19 CCDS34633.1 . . . . . . . . . . G 3.658 -0.070119 0.07228 . . ENSG00000158683 ENST00000289672 T 0.68181 -0.31 4.9 -3.89 0.04193 PKD/Chitinase domain (1);PKD domain (2); 3.200300 0.00966 N 0.003172 T 0.54447 0.1859 L 0.29908 0.895 0.09310 N 1 B 0.17667 0.023 B 0.14023 0.01 T 0.41413 -0.9510 10 0.32370 T 0.25 0.1517 10.9535 0.47343 0.5301:0.0:0.4699:0.0 . 597 Q8TDX9 PK1L1_HUMAN M 597 ENSP00000289672:T597M ENSP00000289672:T597M T - 2 0 PKD1L1 47910641 0.000000 0.05858 0.000000 0.03702 0.081000 0.17604 -0.434000 0.06939 -0.854000 0.04131 -1.177000 0.01723 ACG TCGA-IB-7645-01A-22D-2201-08 PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340974.1 0 0 0 12 318 0 65 0 0 0 1 0 65 2 0 0 0 0 0 2 1 0.999059 12 312 0 64 2 0 0 0 0 65 2 -12.570700 1 1 0 0 1 2 2 4 2.152758 1 0.140000 1.990000 0.203556 0.640000 0.320000 1.000000 0.570000 0.691713 0.640000 0 0.450000 1.000000 PKHD1L1 93035 broad.mit.edu 37 8 110457259 110457259 + Missense_Mutation SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr8:110457259C>A ENST00000378402.5 + 38 5265 c.5161C>A c.(5161-5163)Ctt>Att p.L1721I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGCCCAACAGCTTGTGGATGT 0.438000 HNSCC(38;0.096) 0 SO:0001583 missense ENST00000378402.5 1 1 hg19 CCDS47911.1 . . . . . . . . . . C 7.230 0.599079 0.13939 . . ENSG00000205038 ENST00000378402 T 0.78003 -1.14 6.17 5.27 0.74061 Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1); 0.524512 0.19441 N 0.114191 T 0.74816 0.3766 L 0.54323 1.7 0.09310 N 1 P 0.35527 0.507 B 0.40602 0.334 T 0.64647 -0.6358 10 0.22706 T 0.39 . 12.7395 0.57243 0.2809:0.7191:0.0:0.0 . 1721 Q86WI1 PKHL1_HUMAN I 1721 ENSP00000367655:L1721I ENSP00000367655:L1721I L + 1 0 PKHD1L1 110526435 0.000000 0.05858 0.659000 0.29680 0.463000 0.32649 -0.229000 0.09098 2.941000 0.99782 0.655000 0.94253 CTT TCGA-IB-7645-01A-22D-2201-08 PKHD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381017.1 0 0 1 124 884 0 200 0 0 0 0 200 2 0 0 0 0 0 2 1 1.000000 122 876 0 200 2 0 0 0 0 200 2 -20.000000 1 1 0 0 1 1 2 3 2.031294 0 0.140000 1.990000 0.172997 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 GSDMC 56169 broad.mit.edu 37 8 130789715 130789715 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr8:130789715C>T ENST00000276708.4 - 2 1000 c.119G>A c.(118-120)cGa>cAa p.R40Q NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 26 CTTCTTCTTTCGTAATATAAC 0.398000 0 SO:0001583 missense ENST00000276708.4 1 1 hg19 CCDS6360.1 . . . . . . . . . . C 5.027 0.190676 0.09547 . . ENSG00000147697 ENST00000276708 T 0.23348 1.91 3.9 -0.272 0.12919 . 0.803958 0.10809 N 0.631858 T 0.07954 0.0199 N 0.11255 0.115 0.09310 N 1 P 0.35684 0.515 B 0.22753 0.041 T 0.26643 -1.0097 10 0.12430 T 0.62 . 3.0092 0.06039 0.1923:0.4599:0.0:0.3478 . 40 Q9BYG8 GSDMC_HUMAN Q 40 ENSP00000276708:R40Q ENSP00000276708:R40Q R - 2 0 GSDMC 130858897 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -1.989000 0.01480 -0.177000 0.10690 -0.424000 0.05967 CGA TCGA-IB-7645-01A-22D-2201-08 GSDMC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380586.1 1 0 0 34 598 0 131 0 3.129735e-03 0 2 0 131 2 0 0 0 0 0 2 1 1.000000 32 590 0 131 2 0 0 0 0 131 2 -6.257532 1 1 121412 4 39 1 1 2 3 2.031294 0 0.140000 1.990000 0.172997 0.850000 0.570000 1.000000 1.000000 0.853224 0.850000 1 0.690000 1.000000 CA8 767 broad.mit.edu 37 8 61139438 61139438 + Missense_Mutation SNP C C G TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr8:61139438C>G ENST00000317995.4 - 5 834 c.570G>C c.(568-570)caG>caC p.Q190H CA8_ENST00000528666.1_5'UTR NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) Zonisamide(DB00909) TTACCTTATACTGAATATCTT 0.393000 0 SO:0001583 missense ENST00000317995.4 1 1 hg19 CCDS6174.1 . . . . . . . . . . C 15.13 2.740653 0.49045 . . ENSG00000178538 ENST00000317995 T 0.68331 -0.32 5.83 2.55 0.30701 Carbonic anhydrase, alpha-class, catalytic domain (4); 0.171104 0.53938 D 0.000047 T 0.56746 0.2006 M 0.66297 2.02 0.48830 D 0.999712 P 0.37525 0.598 B 0.32022 0.139 T 0.54186 -0.8331 10 0.87932 D 0 . 5.3935 0.16257 0.1324:0.6131:0.0:0.2545 . 190 P35219 CAH8_HUMAN H 190 ENSP00000314407:Q190H ENSP00000314407:Q190H Q - 3 2 CA8 61301992 0.975000 0.34042 1.000000 0.80357 0.997000 0.91878 0.168000 0.16622 0.195000 0.20347 0.650000 0.86243 CAG TCGA-IB-7645-01A-22D-2201-08 CA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383445.1 1 0 0 11 220 0 34 1 1.820623e-01 2 13 0 34 2 0 0 0 0 0 2 1 0.998375 11 218 0 34 2 0 0 0 0 34 2 -13.675850 1 1 0 0 1 1 2 3 2.031294 0 0.140000 1.990000 0.172997 0.810000 0.400000 1.000000 1.000000 0.796770 0.810000 0 0.570000 1.000000 PSKH2 85481 broad.mit.edu 37 8 87060706 87060706 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr8:87060706C>T ENST00000276616.2 - 3 1217 c.1143G>A c.(1141-1143)ctG>ctA p.L381L NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 47 STAD - Stomach adenocarcinoma(118;0.129) AAAGCGCAGACAGTGGCGATT 0.433000 0 SO:0001819 synonymous_variant ENST00000276616.2 0 1 hg19 CCDS6240.1 TCGA-IB-7645-01A-22D-2201-08 PSKH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374628.1 0 0 0 8 506 1 79 0 0 0 1 79 2 0 0 0 0 0 2 0 0.009778 8 498 1 79 21 0 0 0 1 79 2 -6.710205 1 0 0 0 1 1 2 3 2.031294 0 0.140000 1.990000 0.172997 0.270000 0.110000 1.000000 0.230000 0.433277 0.270000 0 0.180000 1.000000 NTRK2 4915 broad.mit.edu 37 9 87635240 87635240 + Silent SNP C C A TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chr9:87635240C>A ENST00000323115.4 + 16 2597 c.2244C>A c.(2242-2244)acC>acA p.T748T NTRK2_ENST00000376214.1_Silent_p.T764T|NTRK2_ENST00000277120.3_Silent_p.T764T|NTRK2_ENST00000376213.1_Silent_p.T748T Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 46 Amitriptyline(DB00321) AGATTTTCACCTATGGCAAAC 0.557000 TSP Lung(25;0.17) 0 SO:0001819 synonymous_variant ENST00000323115.4 1 1 hg19 CCDS35050.1 TCGA-IB-7645-01A-22D-2201-08 NTRK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052882.1 1 0 0 27 627 0 156 0 0 0 1 0 156 2 0 0 0 0 0 2 1 1.000000 27 620 0 155 2 0 0 0 0 156 2 -2.630835 1 1 0 0 1 0 1 1 1.886600 1 0.140000 1.990000 0.081491 0.540000 0.370000 0.760000 0.540000 0.561078 0.540000 0 0.450000 0.660000 FAM122C 159091 broad.mit.edu 37 X 133948871 133948871 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chrX:133948871C>T ENST00000370784.4 + 2 587 c.181C>T c.(181-183)Cgc>Tgc p.R61C FAM122C_ENST00000414371.2_Missense_Mutation_p.R97C|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.R61C NM_001170779.1 NP_001164250.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C p.R61C(2) 5 Acute lymphoblastic leukemia(192;0.000127) TAGGAATCGACGCTCTCTGGT 0.388000 2 Substitution - Missense(2) SO:0001583 missense ENST00000370784.4 1 1 hg19 CCDS55501.1 . . . . . . . . . . C 11.05 1.523793 0.27299 0.0 1.49E-4 ENSG00000156500 ENST00000414371;ENST00000370784;ENST00000370785 T;T;T 0.55588 0.51;0.51;0.51 5.37 4.5 0.54988 . 0.409996 0.29480 N 0.012036 T 0.26340 0.0643 N 0.08118 0 0.22571 N 0.998978 B;P;P;P 0.38048 0.386;0.616;0.616;0.616 B;B;B;B 0.19666 0.016;0.016;0.016;0.026 T 0.13899 -1.0492 10 0.66056 D 0.02 -9.8706 10.5203 0.44914 0.1931:0.8069:0.0:0.0 . 97;61;61;61 F5H036;Q6P4D5;Q6P4D5-2;Q6P187 .;F222C_HUMAN;.;. C 97;61;61 ENSP00000402477:R97C;ENSP00000359820:R61C;ENSP00000359821:R61C ENSP00000359820:R61C R + 1 0 FAM122C 133776537 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 0.685000 0.25378 1.031000 0.39867 0.579000 0.79373 CGC TCGA-IB-7645-01A-22D-2201-08 FAM122C-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 0 0 0 12 633 0 106 0 3.289173e-02 0 14 0 106 2 0 0 0 0 0 2 1 0.999008 12 620 0 106 2 0 0 0 0 106 2 -3.039538 1 1 121406 1 38 1 0 1 1 0.140000 1.990000 0.140000 0.270000 0.140000 0.440000 0.260000 0.284295 0.270000 0 0.200000 0.360000 ATP2B3 492 broad.mit.edu 37 X 152807149 152807149 + Silent SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chrX:152807149C>T ENST00000349466.2 + 4 755 c.429C>T c.(427-429)ggC>ggT p.G143G ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000370186.1_Silent_p.G143G|ATP2B3_ENST00000359149.3_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTCGGGAGGCGCAGAAGATG 0.607000 0 SO:0001819 synonymous_variant ENST00000349466.2 1 1 hg19 CCDS35440.1 TCGA-IB-7645-01A-22D-2201-08 ATP2B3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060957.1 1 0 0 21 379 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 0.999997 21 374 0 74 2 0 0 0 0 76 2 -19.997570 1 1 121408 2 33 1 0 1 1 0.140000 1.990000 0.140000 0.750000 0.480000 1.000000 1.000000 0.762548 0.750000 0 0.600000 0.920000 RS1 6247 broad.mit.edu 37 X 18674869 18674869 + Missense_Mutation SNP C C T rs146477940 byFrequency TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chrX:18674869C>T ENST00000379984.3 - 3 128 c.88G>A c.(88-90)Gag>Aag p.E30K NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 15 Hepatocellular(33;0.183) CAGGGGTCCTCGCCTTCATCC 0.557000 0 SO:0001583 missense ENST00000379984.3 1 1 hg19 CCDS14187.1 . . . . . . . . . . C 9.345 1.064013 0.20067 2.61E-4 1.49E-4 ENSG00000102104 ENST00000379984 D 0.98249 -4.82 5.15 5.15 0.70609 . 0.496244 0.22178 N 0.063545 D 0.94381 0.8193 L 0.46157 1.445 0.26249 N 0.978759 B 0.31040 0.305 B 0.19148 0.024 D 0.85724 0.1327 10 0.06625 T 0.88 . 8.4044 0.32605 0.1599:0.6651:0.175:0.0 . 30 O15537 XLRS1_HUMAN K 30 ENSP00000369320:E30K ENSP00000369320:E30K E - 1 0 RS1 18584790 0.808000 0.29022 0.995000 0.50966 0.113000 0.19764 1.244000 0.32778 2.264000 0.75181 0.600000 0.82982 GAG TCGA-IB-7645-01A-22D-2201-08 RS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055949.1 1 0 0 39 568 0 132 0 0 0 0 132 2 0 0 0 0 0 2 1 1.000000 39 565 0 131 2 0 0 0 0 132 2 -2.774726 1 1 121412 13 46 1 0 1 1 0.140000 1.990000 0.140000 0.910000 0.660000 1.000000 1.000000 0.899801 0.910000 1 0.780000 1.000000 P2RY4 5030 broad.mit.edu 37 X 69478844 69478844 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chrX:69478844C>T ENST00000374519.2 - 1 810 c.631G>A c.(631-633)Gtg>Atg p.V211M NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 18 AGGCAGGGCACGCCAAAGAGC 0.587000 0 SO:0001583 missense ENST00000374519.2 1 1 hg19 CCDS14398.1 1 6.027727546714888E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 12.92 2.081633 0.36758 . . ENSG00000186912 ENST00000374519 T 0.26373 1.74 4.43 -1.97 0.07503 GPCR, rhodopsin-like superfamily (1); 0.845492 0.10248 U 0.697532 T 0.20455 0.0492 L 0.38953 1.18 0.09310 N 1 P 0.47106 0.89 P 0.49421 0.61 T 0.11567 -1.0582 10 0.44086 T 0.13 . 0.2633 0.00221 0.2575:0.2715:0.2178:0.2532 . 211 P51582 P2RY4_HUMAN M 211 ENSP00000363643:V211M ENSP00000363643:V211M V - 1 0 P2RY4 69395569 0.000000 0.05858 0.069000 0.20011 0.928000 0.56348 -0.525000 0.06214 -0.351000 0.08249 -0.239000 0.12128 GTG TCGA-IB-7645-01A-22D-2201-08 P2RY4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057058.2 1 0 0 8 182 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.980037 8 152 0 43 2 0 0 0 0 53 2 -10.573020 1 1 121410 6 36 1 0 1 1 0.140000 1.990000 0.140000 0.610000 0.290000 1.000000 1.000000 0.640619 0.610000 0 0.430000 0.850000 FAM9A 171482 broad.mit.edu 37 X 8763195 8763195 + Missense_Mutation SNP C C T TCGA-IB-7645-01A-22D-2201-08 TCGA-IB-7645-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4b74b488-3cd3-4671-96b6-80e55d4f6d42 ff33181b-4653-4048-b933-5153a016c9c5 g.chrX:8763195C>T ENST00000543214.1 - 7 890 c.755G>A c.(754-756)gGa>gAa p.G252E FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 18 Hepatocellular(5;0.219) tcctcctcctccttcttctcc 0.463000 0 SO:0001583 missense ENST00000543214.1 0 1 hg19 CCDS14131.1 . . . . . . . . . . t 0 -2.786172 0.00078 . . ENSG00000183304 ENST00000381003;ENST00000543214 . . . 0.507 -1.01 0.10169 . . . . . T 0.15046 0.0363 N 0.08118 0 0.09310 N 1 B 0.06786 0.001 B 0.04013 0.001 T 0.19160 -1.0314 7 0.87932 D 0 . . . . . 252 Q8IZU1 FAM9A_HUMAN E 252 . ENSP00000370391:G252E G - 2 0 FAM9A 8723195 0.003000 0.15002 0.000000 0.03702 0.001000 0.01503 -1.395000 0.02516 -1.592000 0.01619 -1.314000 0.01303 GGA TCGA-IB-7645-01A-22D-2201-08 FAM9A-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055697.1 0 0 0 4 58 0 11 0 0 0 0 11 2 0 0 0 0 0 2 1 0.888768 4 57 0 11 2 0 0 0 0 11 2 -3.205564 1 1 0 0 1 0 1 1 0.140000 1.990000 0.140000 0.930000 0.330000 1.000000 1.000000 0.835612 0.930000 1 0.580000 1.000000