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 GPRC5A 9052 broad.mit.edu 37 12 13061419 13061420 + Frame_Shift_Ins INS - - TGGC TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 - TGGC - - Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:13061419_13061420insTGGC ENST00000014914.5 + 2 1126_1127 c.236_237insTGGC c.(235-240)tttggcfs p.-80fs GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, class C, group 5, member A 18 Prostate(47;0.141) Tretinoin(DB00755) TTGGGCATCTTTGGCCTCACCT 0.559000 0 SO:0001589 frameshift_variant ENST00000014914.5 0 1 hg19 CCDS8657.1 TCGA-IB-7893-01A-11D-2201-08 GPRC5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400682.1 1 0 0 48 1013 0 184 0 9.999669e-01 0 311 0 184 2 0 0 0 0 0 0 1 1.000000 60 987 0 180 2 0 0 0 0 0 0 -5.748933 1 1 0 0 1 0 3 3 1.930904 1 0.210000 3.310000 0.271218 0.480000 0.350000 1.000000 0.470000 0.554319 0.480000 0 0.400000 0.640000 ACSS3 79611 broad.mit.edu 37 12 81624902 81624902 + Frame_Shift_Del DEL C C - TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:81624902delC ENST00000548058.1 + 12 2491 c.1581delC c.(1579-1581)tacfs p.Y527fs ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs|ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 51 AGCATTTATACTTTGAAAAAT 0.308000 0 SO:0001589 frameshift_variant ENST00000548058.1 0 1 hg19 CCDS9022.1 TCGA-IB-7893-01A-11D-2201-08 ACSS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000407794.1 1 0 0 20 195 0 40 0 8.648634e-01 0 37 0 40 2 0 0 0 0 0 0 1 0.999996 20 191 0 40 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 3 3 1.930904 1 0.210000 3.310000 0.271218 0.990000 0.620000 1.000000 1.000000 0.924959 0.990000 1 0.790000 1.000000 PNLIP 5406 broad.mit.edu 37 10 118315573 118315573 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:118315573C>T ENST00000369221.2 + 9 901 c.873C>T c.(871-873)atC>atT p.I291I NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 43 Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083) CTGATAGCATCGTCAACCCTG 0.433000 0 SO:0001819 synonymous_variant ENST00000369221.2 1 1 hg19 CCDS7594.1 TCGA-IB-7893-01A-11D-2201-08 PNLIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050524.1 1 0 1 75 633 0 121 0 2.086118e-01 0 8 0 121 2 0 0 0 0 0 2 1 1.000000 75 627 0 120 2 0 0 0 0 121 2 -19.999430 1 1 0 0 1 1 2 3 1.779255 0 0.210000 3.310000 0.217396 0.990000 0.810000 1.000000 1.000000 0.969318 0.990000 1 0.910000 1.000000 POLR3A 11128 broad.mit.edu 37 10 79761987 79761987 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr10:79761987C>A ENST00000372371.3 - 17 2464 c.2327G>T c.(2326-2328)aGc>aTc p.S776I NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGTGAGGGGGCTGTTGCTCTT 0.587000 0 SO:0001583 missense ENST00000372371.3 0 1 hg19 CCDS7354.1 . . . . . . . . . . C 35 5.579888 0.96565 . . ENSG00000148606 ENST00000372371;ENST00000540842 T 0.70631 -0.5 5.49 5.49 0.81192 RNA polymerase Rpb1, domain 4 (1); 0.000000 0.85682 D 0.000000 D 0.85969 0.5821 M 0.89658 3.05 0.80722 D 1 D 0.56287 0.975 P 0.59056 0.851 D 0.87645 0.2524 9 . . . -31.3285 19.7347 0.96198 0.0:1.0:0.0:0.0 . 776 O14802 RPC1_HUMAN I 776 ENSP00000361446:S776I . S - 2 0 POLR3A 79431993 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.206000 0.77891 2.746000 0.94184 0.655000 0.94253 AGC TCGA-IB-7893-01A-11D-2201-08 POLR3A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048923.1 0 0 0 3 36 0 9 0 6.913960e-01 0 28 0 9 2 0 0 0 0 0 2 1 0.795552 2 35 0 9 2 0 0 0 0 9 2 -7.853695 1 0 0 0 1 1 2 3 1.779255 0 0.210000 3.310000 0.217396 0.830000 0.240000 1.000000 1.000000 0.770678 0.830000 0 0.470000 1.000000 CNTN5 53942 broad.mit.edu 37 11 100211266 100211266 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:100211266C>A ENST00000524871.1 + 22 3092 c.2802C>A c.(2800-2802)ttC>ttA p.F934L CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 p.F934F(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) ATGAGTCTTTCGTCATCCTAA 0.423000 1 Substitution - coding silent(1) SO:0001583 missense ENST00000524871.1 1 1 hg19 CCDS53696.1 . . . . . . . . . . C 4.092 0.014996 0.07959 . . ENSG00000149972 ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463 T;T;T;T 0.56776 0.44;0.44;0.44;0.44 5.18 -5.25 0.02781 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.412070 0.29053 N 0.013284 T 0.19886 0.0478 N 0.01576 -0.805 0.09310 N 0.999997 B;B 0.21688 0.019;0.059 B;B 0.23716 0.01;0.048 T 0.23797 -1.0178 9 . . . . 14.7843 0.69790 0.0:0.4529:0.0:0.5471 . 860;934 O94779-2;O94779 .;CNTN5_HUMAN L 934;934;860;934 ENSP00000436185:F934L;ENSP00000435637:F934L;ENSP00000393229:F860L;ENSP00000279463:F934L . F + 3 2 CNTN5 99716476 0.000000 0.05858 0.031000 0.17742 0.006000 0.05464 -1.952000 0.01528 -0.884000 0.03976 -0.216000 0.12614 TTC TCGA-IB-7893-01A-11D-2201-08 CNTN5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395148.2 1 0 1 33 113 0 15 0 0 0 0 15 2 0 0 0 0 0 2 1 1.000000 31 112 0 15 2 0 0 0 0 15 2 -19.999680 1 1 0 0 1 2 2 4 2.136612 1 0.210000 3.310000 0.347107 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 DYNC2H1 79659 broad.mit.edu 37 11 103175414 103175414 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:103175414C>A ENST00000375735.2 + 77 11491 c.11347C>A c.(11347-11349)Cat>Aat p.H3783N DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) GAAGAACTTACATCTTGTGGT 0.398000 0 SO:0001583 missense ENST00000375735.2 1 1 hg19 CCDS53701.1 . . . . . . . . . . C 24.6 4.549973 0.86127 . . ENSG00000187240 ENST00000375735;ENST00000398093;ENST00000540621 T;T 0.34275 1.37;1.37 5.37 5.37 0.77165 Dynein heavy chain (1); 0.000000 0.85682 D 0.000000 T 0.69691 0.3139 M 0.92738 3.34 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.76071 0.982;0.987 T 0.77544 -0.2548 10 0.87932 D 0 . 17.6563 0.88179 0.0:1.0:0.0:0.0 . 3783;3790 Q8NCM8;Q8NCM8-2 DYHC2_HUMAN;. N 3783;3790;29 ENSP00000364887:H3783N;ENSP00000381167:H3790N ENSP00000364887:H3783N H + 1 0 DYNC2H1 102680624 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.557000 0.82243 2.687000 0.91594 0.655000 0.94253 CAT TCGA-IB-7893-01A-11D-2201-08 DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 1 0 1 18 382 0 47 1 6.732132e-01 12 38 0 47 2 0 0 0 0 0 2 1 0.999982 19 378 0 47 2 0 0 0 0 47 2 -18.580900 1 1 0 0 1 2 2 4 2.136612 1 0.210000 3.310000 0.347107 0.520000 0.320000 0.780000 0.520000 0.542072 0.520000 0 0.410000 0.660000 AMPD3 272 broad.mit.edu 37 11 10518392 10518392 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:10518392C>T ENST00000396554.3 + 10 1832 c.1491C>T c.(1489-1491)aaC>aaT p.N497N AMPD3_ENST00000444303.2_Silent_p.N329N NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 25 TGCTGCCAAACTTTGGGAAGA 0.502000 0 SO:0001819 synonymous_variant ENST00000396554.3 1 1 hg19 CCDS7802.1 TCGA-IB-7893-01A-11D-2201-08 AMPD3-001 PUTATIVE basic|CCDS protein_coding protein_coding OTTHUMT00000385783.2 1 0 0 41 512 0 105 1 6.998343e-01 3 29 0 105 2 0 0 0 0 0 2 1 1.000000 41 500 0 104 2 0 0 0 0 105 2 -20.000000 1 1 0 0 1 2 2 4 2.130237 1 0.210000 3.310000 0.347107 0.850000 0.620000 1.000000 1.000000 0.857157 0.850000 1 0.730000 0.990000 AGBL2 79841 broad.mit.edu 37 11 47684620 47684620 + Silent SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:47684620T>A ENST00000525123.1 - 18 2778 c.2493A>T c.(2491-2493)tcA>tcT p.S831S AGBL2_ENST00000298861.4_Silent_p.S831S|AGBL2_ENST00000357610.3_Silent_p.S833S NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 34 GGGTGGCCATTGATGGGTCCA 0.353000 0 SO:0001819 synonymous_variant ENST00000525123.1 1 1 hg19 CCDS7944.1 TCGA-IB-7893-01A-11D-2201-08 AGBL2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000383726.2 1 0 0 120 1228 0 160 0 8.069948e-03 0 2 0 160 2 0 0 0 0 0 2 1 1.000000 117 1193 0 159 2 0 0 0 0 160 2 -20.000000 1 1 0 0 1 2 2 4 2.130237 1 0.210000 3.310000 0.347107 0.990000 0.850000 1.000000 1.000000 0.977639 0.990000 1 0.930000 1.000000 OR4C6 219432 broad.mit.edu 37 11 55433006 55433006 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:55433006G>A ENST00000314259.3 + 1 393 c.364G>A c.(364-366)Gtg>Atg p.V122M NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 p.V122L(1) 71 TGACCGCTACGTGGCCATCTG 0.547000 1 Substitution - Missense(1) SO:0001583 missense ENST00000314259.3 1 1 hg19 CCDS31506.1 . . . . . . . . . . G 12.08 1.830823 0.32329 2.27E-4 0.0 ENSG00000181903 ENST00000314259 T 0.20463 2.07 3.77 2.85 0.33270 GPCR, rhodopsin-like superfamily (1); 0.222920 0.22609 N 0.057844 T 0.19725 0.0474 M 0.69523 2.12 0.21802 N 0.999532 P 0.52170 0.951 B 0.40038 0.317 T 0.27123 -1.0083 10 0.62326 D 0.03 . 4.2775 0.10816 0.219:0.1919:0.5891:0.0 . 122 Q8NH72 OR4C6_HUMAN M 122 ENSP00000324769:V122M ENSP00000324769:V122M V + 1 0 OR4C6 55189582 0.009000 0.17119 0.983000 0.44433 0.942000 0.58702 0.122000 0.15687 0.604000 0.29930 0.536000 0.68110 GTG TCGA-IB-7893-01A-11D-2201-08 OR4C6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391504.1 1 0 1 111 444 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 109 431 0 99 2 0 0 0 0 101 2 -20.000000 1 1 121406 4 39 1 2 2 4 2.130237 1 0.210000 3.310000 0.347107 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 RAB6A 5870 broad.mit.edu 37 11 73471653 73471653 + Missense_Mutation SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G T G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr11:73471653G>T ENST00000336083.3 - 1 483 c.28C>A c.(28-30)Ccg>Acg p.P10T RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T|RAB6A_ENST00000536566.1_5'Flank|RP11-707G14.1_ENST00000540547.1_RNA|RAB6A_ENST00000310653.6_Missense_Mutation_p.P10T NM_198896.1 NP_942599.1 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 4 TTCCTCAGCGGATTCCCGAAG 0.667000 0 SO:0001583 missense ENST00000336083.3 0 1 hg19 CCDS8224.1 . . . . . . . . . . G 21.0 4.084059 0.76642 . . ENSG00000175582 ENST00000310653;ENST00000336083;ENST00000393571;ENST00000541588;ENST00000540771;ENST00000539750;ENST00000535748;ENST00000542366 T;T;T 0.64803 -0.12;-0.12;-0.11 4.89 3.98 0.46160 . 0.057059 0.64402 D 0.000001 T 0.65176 0.2666 L 0.53561 1.675 0.80722 D 1 B;D;B;B 0.53312 0.057;0.959;0.136;0.041 B;P;B;B 0.51615 0.05;0.675;0.059;0.051 T 0.68010 -0.5522 10 0.66056 D 0.02 . 10.9382 0.47257 0.0903:0.0:0.9097:0.0 . 10;10;10;10 Q1W5D8;F5H3K7;P20340;P20340-2 .;.;RAB6A_HUMAN;. T 10 ENSP00000311449:P10T;ENSP00000336850:P10T;ENSP00000445350:P10T ENSP00000311449:P10T P - 1 0 RAB6A 73149301 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 6.901000 0.75693 1.289000 0.44618 0.650000 0.86243 CCG TCGA-IB-7893-01A-11D-2201-08 RAB6A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000259241.2 0 0 0 4 104 0 20 0 9.958214e-01 0 331 0 20 2 0 0 0 0 0 2 1 0.875271 5 96 0 20 2 0 0 0 0 20 2 -7.158389 1 1 0 0 1 2 2 4 2.136612 1 0.210000 3.310000 0.347107 0.470000 0.160000 0.990000 1.000000 0.510379 0.470000 0 0.290000 0.720000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D 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 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D 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-7893-01A-11D-2201-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 24 107 0 18 1 9.954361e-01 18 24 0 18 2 1 1 51 240 0 314 2 1 1.000000 24 102 0 18 2 1 1 2010 6004 0 18 2 -15.978220 1 1 121404 2 44 1 0 3 3 1.930904 1 0.210000 3.310000 0.271218 0.990000 0.990000 1.000000 1.000000 0.999940 0.990000 1 0.990000 1.000000 GAS6 2621 broad.mit.edu 37 13 114535736 114535736 + Missense_Mutation SNP C C T rs141710031 by1000genomes TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr13:114535736C>T ENST00000357389.3 - 9 1105 c.953G>A c.(952-954)cGt>cAt p.R318H GAS6_ENST00000355761.4_Intron|GAS6_ENST00000450766.1_Intron|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000418959.3_5'UTR Q14393 GAS6_HUMAN growth arrest-specific 6 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CTGCCACGGACGGGGGCCACG 0.692000 0 SO:0001583 missense ENST00000357389.3 1 0 hg19 16 0.007326007326007326 16 0.032520325203252036 0 0.0 0 0.0 0 0.0 c 0.020 -1.436583 0.01108 0.017524 1.17E-4 ENSG00000183087 ENST00000357389 D 0.90620 -2.7 1.72 -3.43 0.04810 . . . . . T 0.64929 0.2643 . . . 0.09310 N 0.999998 . . . . . . T 0.63198 -0.6691 6 0.39692 T 0.17 . 0.1497 0.00092 0.3614:0.16:0.1761:0.3025 . . . . H 318 ENSP00000349962:R318H ENSP00000349962:R318H R - 2 0 GAS6 113578207 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.259000 0.08721 -2.506000 0.00507 -2.626000 0.00155 CGT TCGA-IB-7893-01A-11D-2201-08 GAS6-202 KNOWN basic|appris_candidate_longest protein_coding protein_coding 0 0 1 79 298 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 1.000000 78 279 0 61 2 0 0 0 0 65 2 -2.647298 1 1 120582 216 55 1 0 3 3 1.939427 1 0.210000 3.310000 0.283707 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 JAG2 3714 broad.mit.edu 37 14 105609113 105609113 + Silent SNP C C A rs3122382 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:105609113C>A ENST00000331782.3 - 26 4039 c.3636G>T c.(3634-3636)ccG>ccT p.P1212P JAG2_ENST00000347004.2_Silent_p.P1174P NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) CCCAGTGGGCCGGCCTCCCCG 0.672000 0 SO:0001819 synonymous_variant ENST00000331782.3 0 1 hg19 CCDS9998.1 TCGA-IB-7893-01A-11D-2201-08 JAG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276506.2 0 0 0 3 96 0 29 0 1.262102e-01 0 15 0 29 2 0 0 0 0 0 2 1 0.799303 3 92 0 29 2 0 0 0 0 29 2 -6.147521 1 1 0 0 1 1 2 3 1.937806 0 0.210000 3.310000 0.280281 0.380000 0.100000 1.000000 0.320000 0.435622 0.380000 0 0.210000 0.650000 NUDT14 256281 broad.mit.edu 37 14 105639421 105639421 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:105639421G>A ENST00000392568.2 - 5 699 c.606C>T c.(604-606)ctC>ctT p.L202L NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) AGATGACGCCGAGGGTCTTGG 0.632000 HNSCC(42;0.11) 0 SO:0001819 synonymous_variant ENST00000392568.2 1 1 hg19 CCDS10000.1 TCGA-IB-7893-01A-11D-2201-08 NUDT14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074544.4 0 0 1 33 264 0 65 1 9.918784e-01 12 51 0 65 2 0 0 0 0 0 2 1 1.000000 31 258 0 65 2 0 0 0 0 65 2 -3.318806 1 1 0 0 1 1 2 3 1.937806 0 0.210000 3.310000 0.280281 0.990000 0.830000 1.000000 1.000000 0.985343 0.990000 1 0.990000 1.000000 TMX1 81542 broad.mit.edu 37 14 51716045 51716045 + Splice_Site SNP A A T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr14:51716045A>T ENST00000457354.2 + 5 570 c.445A>T c.(445-447)Atg>Ttg p.M149L NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 5 TATTTTTAGGATGAGTAGTAT 0.284000 0 SO:0001630 splice_region_variant ENST00000457354.2 1 0 hg19 CCDS41953.1 . . . . . . . . . . A 19.60 3.858882 0.71834 . . ENSG00000139921 ENST00000457354 T 0.63913 -0.07 5.75 5.75 0.90469 Thioredoxin-like fold (1); 0.070753 0.85682 D 0.000000 T 0.65312 0.2679 M 0.66506 2.035 0.58432 D 0.999995 P;P 0.45283 0.537;0.855 B;P 0.48334 0.391;0.574 T 0.64015 -0.6506 10 0.28530 T 0.3 -22.9158 10.7708 0.46321 0.8579:0.0:0.0:0.1421 . 65;149 B4DZX7;Q9H3N1 .;TMX1_HUMAN L 149 ENSP00000393316:M149L ENSP00000393316:M149L M + 1 0 TMX1 50785795 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 5.210000 0.65214 2.185000 0.69588 0.533000 0.62120 ATG TCGA-IB-7893-01A-11D-2201-08 TMX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411206.1 1 0 1 37 315 0 38 1 9.999993e-01 19 168 0 38 2 0 0 0 0 0 2 1 1.000000 35 306 0 38 2 0 0 0 0 38 2 -13.679730 1 1 0 0 1 1 2 3 1.948275 0 0.210000 3.310000 0.285068 0.990000 0.800000 1.000000 1.000000 0.977528 0.990000 1 0.940000 1.000000 PTX4 390667 broad.mit.edu 37 16 1536305 1536305 + Missense_Mutation SNP C C T rs139020235 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:1536305C>T ENST00000447419.2 - 3 1097 c.1072G>A c.(1072-1074)Ggc>Agc p.G358S PTX4_ENST00000293922.1_Missense_Mutation_p.G353S|PTX4_ENST00000440447.2_3'UTR Q96A99 PTX4_HUMAN pentraxin 4, long 17 TGCCACTGGCCGTCCAGCAGC 0.672000 0 SO:0001583 missense ENST00000447419.2 0 1 hg19 . . . . . . . . . . C 11.16 1.555929 0.27827 0.00523 0.0 ENSG00000251692 ENST00000447419;ENST00000293922 T;T 0.70399 -0.48;-0.48 5.58 -1.27 0.09347 . 0.344788 0.28877 N 0.013853 T 0.64011 0.2560 L 0.55103 1.725 0.36413 D 0.863864 P 0.49783 0.928 P 0.56434 0.798 T 0.70011 -0.4989 10 0.72032 D 0.01 . 6.632 0.22861 0.0:0.5363:0.1133:0.3505 . 353 Q96A99-2 . S 358;353 ENSP00000445277:G358S;ENSP00000293922:G353S ENSP00000293922:G353S G - 1 0 PTX4 1476306 0.000000 0.05858 0.060000 0.19600 0.388000 0.30384 0.231000 0.17872 -0.153000 0.11137 -0.878000 0.02970 GGC TCGA-IB-7893-01A-11D-2201-08 PTX4-001 KNOWN not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000432526.1 0 0 0 6 196 0 63 0 0 0 0 63 2 0 0 0 0 0 2 1 0.962291 5 191 0 63 2 0 0 0 0 63 2 -7.852806 1 1 121394 54 47 1 1 2 3 1.935424 0 0.210000 3.310000 0.278209 0.340000 0.130000 1.000000 0.310000 0.405432 0.340000 0 0.220000 0.540000 SMG1 23049 broad.mit.edu 37 16 18882786 18882786 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:18882786C>A ENST00000446231.2 - 16 2614 c.2202G>T c.(2200-2202)tgG>tgT p.W734C SMG1_ENST00000389467.3_Missense_Mutation_p.W734C|snoU13_ENST00000459248.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 92 CTTCCAAAGCCCAAGTCATTA 0.338000 0 SO:0001583 missense ENST00000446231.2 0 1 hg19 CCDS45430.1 . . . . . . . . . . C 22.4 4.287871 0.80803 . . ENSG00000157106 ENST00000446231;ENST00000389467 T;T 0.17691 2.26;2.26 5.21 5.21 0.72293 Armadillo-type fold (1); 0.091723 0.47455 U 0.000236 T 0.31482 0.0798 M 0.65975 2.015 0.80722 D 1 D 0.63046 0.992 P 0.49561 0.615 T 0.08911 -1.0699 10 0.87932 D 0 . 19.116 0.93340 0.0:1.0:0.0:0.0 . 734 Q96Q15 SMG1_HUMAN C 734 ENSP00000402515:W734C;ENSP00000374118:W734C ENSP00000374118:W734C W - 3 0 SMG1 18790287 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 5.857000 0.69525 2.589000 0.87451 0.555000 0.69702 TGG TCGA-IB-7893-01A-11D-2201-08 SMG1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000391817.1 0 0 0 7 139 0 25 0 3.681418e-01 0 24 0 25 2 0 0 0 0 0 2 1 0.975467 4 131 0 26 2 0 0 0 0 25 2 -10.153060 1 0 0 0 1 1 2 3 1.935424 0 0.210000 3.310000 0.278209 0.540000 0.240000 1.000000 0.500000 0.587621 0.540000 0 0.370000 0.830000 UBN1 29855 broad.mit.edu 37 16 4920917 4920917 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:4920917A>G ENST00000396658.4 + 10 2206 c.1503A>G c.(1501-1503)aaA>aaG p.K501K UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 p.K501K(1) 38 ATGAAGAAAAAGGGGGCAGGA 0.522000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000396658.4 0 1 hg19 CCDS10525.1 TCGA-IB-7893-01A-11D-2201-08 UBN1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251719.1 0 0 0 5 314 0 58 0 3.424384e-01 0 66 0 58 2 0 0 0 0 0 2 1 0.932083 5 303 0 56 2 0 0 0 0 58 2 -1.931542 0 1 0 0 1 1 2 3 1.935424 0 0.210000 3.310000 0.278209 0.180000 0.060000 1.000000 0.170000 0.258525 0.180000 0 0.110000 0.310000 SLC12A3 6559 broad.mit.edu 37 16 56924262 56924262 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:56924262G>A ENST00000563236.1 + 19 2387 c.2362G>A c.(2362-2364)Gcg>Acg p.A788T SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A788T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GATGATGCAGGCGCACAGTGA 0.458000 0 SO:0001583 missense ENST00000563236.1 0 1 hg19 CCDS58464.1 . . . . . . . . . . G 10.57 1.387157 0.25031 . . ENSG00000070915 ENST00000438926;ENST00000262502 . . . 5.63 3.62 0.41486 . 0.299899 0.36002 N 0.002841 T 0.43986 0.1272 L 0.38838 1.175 0.40083 D 0.976162 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.08055 0.002;0.001;0.003 T 0.25363 -1.0134 9 0.27082 T 0.32 . 9.6378 0.39819 0.0777:0.143:0.7794:0.0 . 787;788;788 P55017-3;P55017;P55017-2 .;S12A3_HUMAN;. T 787;788 . ENSP00000262502:A788T A + 1 0 SLC12A3 55481763 1.000000 0.71417 0.970000 0.41538 0.411000 0.31082 4.456000 0.60081 0.683000 0.31428 0.655000 0.94253 GCG TCGA-IB-7893-01A-11D-2201-08 SLC12A3-005 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000432337.1 0 0 0 6 361 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 0.962200 6 352 0 50 2 0 0 0 0 50 2 -6.276320 1 0 0 0 1 2 2 4 2.102362 1 0.210000 3.310000 0.341392 0.200000 0.070000 1.000000 0.190000 0.245367 0.200000 0 0.130000 0.310000 FUK 197258 broad.mit.edu 37 16 70500121 70500121 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr16:70500121C>A ENST00000288078.6 + 5 604 c.372C>A c.(370-372)gtC>gtA p.V124V FUK_ENST00000378912.2_Silent_p.V156V|FUK_ENST00000428974.2_Silent_p.V107V|FUK_ENST00000571514.1_Intron NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 23 Ovarian(137;0.0694) AAGCCTTGGTCTGCAACCTGG 0.637000 0 SO:0001819 synonymous_variant ENST00000288078.6 0 1 hg19 CCDS10891.2 TCGA-IB-7893-01A-11D-2201-08 FUK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157291.2 0 0 0 6 335 0 78 0 7.829084e-02 0 22 0 78 2 0 0 0 0 0 2 0 0.957872 1 319 0 73 2 0 0 0 0 78 2 -6.550677 1 0 0 0 1 2 2 4 2.102362 1 0.210000 3.310000 0.341392 0.220000 0.080000 1.000000 0.200000 0.260997 0.220000 0 0.140000 0.330000 KRT37 8688 broad.mit.edu 37 17 39579066 39579066 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:39579066C>A ENST00000225550.3 - 3 695 c.696G>T c.(694-696)aaG>aaT p.K232N AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 25 Breast(137;0.000496) GCTGCTCCTCCTTCAGGGACT 0.682000 0 SO:0001583 missense ENST00000225550.3 1 1 hg19 CCDS32653.1 . . . . . . . . . . . 19.52 3.842774 0.71488 . . ENSG00000108417 ENST00000225550 D 0.89050 -2.46 4.86 3.89 0.44902 Filament (1); 0.000000 0.48767 D 0.000168 D 0.93229 0.7843 M 0.84773 2.715 0.36535 D 0.870956 D 0.65815 0.995 D 0.65443 0.935 D 0.93696 0.7011 10 0.48119 T 0.1 . 8.3474 0.32281 0.0:0.7613:0.1549:0.0839 . 232 O76014 KRT37_HUMAN N 232 ENSP00000225550:K232N ENSP00000225550:K232N K - 3 2 KRT37 36832592 0.750000 0.28316 1.000000 0.80357 0.981000 0.71138 0.281000 0.18810 1.058000 0.40530 -0.126000 0.14955 AAG TCGA-IB-7893-01A-11D-2201-08 KRT37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257714.2 1 0 0 27 246 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 1.000000 25 230 0 60 2 0 0 0 0 61 2 -20.000000 1 1 0 0 1 2 2 4 2.157474 1 0.210000 3.310000 0.347107 0.990000 0.780000 1.000000 1.000000 0.977208 0.990000 1 0.950000 1.000000 TP53 7157 broad.mit.edu 37 17 7577520 7577520 + Missense_Mutation SNP A A C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 A C A A Valid Somatic Phase_I WXS targeted Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr17:7577520A>C ENST00000269305.4 - 7 950 c.761T>G c.(760-762)aTc>aGc p.I254S TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000420246.2_Missense_Mutation_p.I254S|TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S 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.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CAGTGTGATGATGGTGAGGAT 0.587000 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 35 Substitution - Missense(15)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(1)|Unknown(1) SO:0001583 missense 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 1 1 hg19 CCDS11118.1 . . . . . . . . . . A 17.59 3.426944 0.62733 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D;D 0.99841 -7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09 4.62 4.62 0.57501 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99771 0.9906 M 0.84219 2.685 0.80722 D 1 D;P;D;D;D 0.89917 1.0;0.951;1.0;1.0;1.0 D;D;D;D;D 0.97110 1.0;0.968;1.0;1.0;0.997 D 0.96936 0.9684 10 0.87932 D 0 -30.4212 12.3101 0.54924 1.0:0.0:0.0:0.0 . 254;254;254;254;254 P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7 .;.;P53_HUMAN;.;. S 254;254;254;254;254;254;243;122 ENSP00000410739:I254S;ENSP00000352610:I254S;ENSP00000269305:I254S;ENSP00000398846:I254S;ENSP00000391127:I254S;ENSP00000391478:I254S;ENSP00000425104:I122S ENSP00000269305:I254S I - 2 0 TP53 7518245 1.000000 0.71417 1.000000 0.80357 0.372000 0.29890 9.087000 0.94110 2.074000 0.62210 0.379000 0.24179 ATC TCGA-IB-7893-01A-11D-2201-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 70 233 0 62 1 9.999999e-01 26 57 0 62 2 1 1 106 450 0 601 2 1 1.000000 67 224 0 62 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 0 2 2 1.760364 1 0.210000 3.310000 0.210000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 COPE 11316 broad.mit.edu 37 19 19016396 19016396 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:19016396C>A ENST00000262812.4 - 5 534 c.486G>T c.(484-486)ctG>ctT p.L162L COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Silent_p.L111L|COPE_ENST00000600932.1_Silent_p.L185L|COPE_ENST00000349893.4_Silent_p.L162L NM_007263.3 NP_009194.2 O14579 COPE_HUMAN coatomer protein complex, subunit epsilon 11 GGGCGAGGTCCAGGCGGTCCA 0.682000 0 SO:0001819 synonymous_variant ENST00000262812.4 0 1 hg19 CCDS12387.1 TCGA-IB-7893-01A-11D-2201-08 COPE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464801.1 0 0 0 4 106 0 8 0 9.928555e-01 0 291 0 8 2 0 0 0 0 0 2 1 0.875721 4 100 0 6 2 0 0 0 0 8 2 -7.003333 1 0 0 0 1 1 2 3 1.916326 0 0.210000 3.310000 0.280281 0.430000 0.140000 1.000000 0.380000 0.484811 0.430000 0 0.260000 0.710000 ZNF493 284443 broad.mit.edu 37 19 21606442 21606442 + Silent SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:21606442C>T ENST00000355504.4 + 2 863 c.597C>T c.(595-597)ggC>ggT p.G199G CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.G327G NM_175910.6 NP_787106.4 Q6ZR52 ZN493_HUMAN zinc finger protein 493 30 AAGAATGTGGCAAAGCCTTTA 0.333000 0 SO:0001819 synonymous_variant ENST00000355504.4 1 1 hg19 CCDS12412.1 TCGA-IB-7893-01A-11D-2201-08 ZNF493-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000280563.1 1 0 0 25 320 0 62 0 5.780061e-03 0 2 0 62 2 0 0 0 0 0 2 1 1.000000 23 305 0 61 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 1 2 3 1.916326 0 0.210000 3.310000 0.280281 0.770000 0.510000 1.000000 1.000000 0.784464 0.770000 0 0.630000 0.960000 TRPM4 54795 broad.mit.edu 37 19 49713525 49713525 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr19:49713525G>A ENST00000252826.5 + 21 3317 c.3191G>A c.(3190-3192)cGc>cAc p.R1064H TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H|TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) CAGCGTTACCGCCTCATCCGG 0.607000 0 SO:0001583 missense ENST00000252826.5 1 1 hg19 CCDS33073.1 . . . . . . . . . . G 15.34 2.803763 0.50315 . . ENSG00000130529 ENST00000252826;ENST00000427978;ENST00000355712 T;T;T 0.43294 0.95;0.95;0.95 5.41 5.41 0.78517 . 0.224765 0.45361 D 0.000374 T 0.24812 0.0602 L 0.28458 0.855 0.27576 N 0.949747 P;P;P;P 0.43519 0.809;0.575;0.575;0.626 B;B;B;B 0.34722 0.092;0.188;0.123;0.092 T 0.16660 -1.0395 10 0.22109 T 0.4 -22.6616 8.6965 0.34298 0.1643:0.0:0.8357:0.0 . 710;890;919;1064 B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43 .;.;.;TRPM4_HUMAN H 1064;919;710 ENSP00000252826:R1064H;ENSP00000407492:R919H;ENSP00000347944:R710H ENSP00000252826:R1064H R + 2 0 TRPM4 54405337 1.000000 0.71417 1.000000 0.80357 0.912000 0.54170 3.257000 0.51500 2.704000 0.92352 0.491000 0.48974 CGC TCGA-IB-7893-01A-11D-2201-08 TRPM4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465543.2 1 0 1 140 439 0 73 1 9.999999e-01 37 40 0 73 2 0 0 0 0 0 2 1 1.000000 134 419 0 69 2 0 0 0 0 73 2 -5.419058 1 1 0 0 1 0 3 3 1.944366 1 0.210000 3.310000 0.285068 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ATAD3A 55210 broad.mit.edu 37 1 1447653 1447653 + Nonsense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:1447653C>A ENST00000378755.5 + 1 99 c.5C>A c.(4-6)tCg>tAg p.S2* ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2*|ATAD3A_ENST00000536055.1_5'Flank NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) GCGAGCATGTCGTGGCTCTTC 0.786000 0 SO:0001587 stop_gained ENST00000378755.5 0 1 hg19 CCDS31.1 . . . . . . . . . . c 37 6.121231 0.97300 . . ENSG00000197785 ENST00000378756;ENST00000378755 . . . 3.98 3.98 0.46160 . 0.133058 0.52532 D 0.000063 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 14.6121 0.68522 0.0:1.0:0.0:0.0 . . . . X 2 . ENSP00000368030:S2X S + 2 0 ATAD3A 1437516 1.000000 0.71417 0.992000 0.48379 0.499000 0.33736 3.954000 0.56708 1.749000 0.51849 0.400000 0.26472 TCG TCGA-IB-7893-01A-11D-2201-08 ATAD3A-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000001365.1 0 0 0 3 56 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 0.770274 2 50 0 17 2 0 0 0 0 19 2 -7.552859 1 0 0 0 1 1 3 4 1.986815 1 0.210000 3.310000 0.302305 0.750000 0.200000 1.000000 1.000000 0.722879 0.750000 0 0.400000 1.000000 IVNS1ABP 10625 broad.mit.edu 37 1 185267230 185267230 + Silent SNP C C T rs74132213 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:185267230C>T ENST00000367498.3 - 15 2488 c.1866G>A c.(1864-1866)acG>acA p.T622T IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.T404T NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 29 AGACTTCCACCGTATTCAGAA 0.408000 0 SO:0001819 synonymous_variant ENST00000367498.3 1 0 hg19 CCDS1368.1 TCGA-IB-7893-01A-11D-2201-08 IVNS1ABP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085774.1 1 0 0 108 1258 0 205 1 1 20 452 0 205 2 0 0 0 0 0 2 1 1.000000 103 1228 0 205 2 0 0 0 0 205 2 -2.389375 0 1 121412 66 55 1 3 4 7 2.320980 1 0.210000 3.310000 0.403998 0.990000 0.830000 1.000000 1.000000 0.972723 0.990000 1 0.920000 1.000000 AJAP1 55966 broad.mit.edu 37 1 4772232 4772232 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr1:4772232C>A ENST00000378191.4 + 2 683 c.302C>A c.(301-303)gCc>gAc p.A101D AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) GCCAGACGGGCCCACAGGCCC 0.736000 0 SO:0001583 missense ENST00000378191.4 0 1 hg19 CCDS54.1 . . . . . . . . . . C 15.13 2.741503 0.49151 . . ENSG00000196581 ENST00000378190;ENST00000378191 T;T 0.46819 0.86;0.86 5.2 4.29 0.51040 . 0.632555 0.15632 N 0.252341 T 0.40546 0.1121 N 0.24115 0.695 0.37947 D 0.932537 P 0.52061 0.95 P 0.49887 0.625 T 0.24119 -1.0169 10 0.30854 T 0.27 -24.4186 9.7068 0.40220 0.0:0.9031:0.0:0.0969 . 101 Q9UKB5 AJAP1_HUMAN D 101 ENSP00000367432:A101D;ENSP00000367433:A101D ENSP00000367432:A101D A + 2 0 AJAP1 4672092 0.077000 0.21312 0.909000 0.35828 0.089000 0.18198 1.256000 0.32921 1.162000 0.42619 0.563000 0.77884 GCC TCGA-IB-7893-01A-11D-2201-08 AJAP1-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001542.3 0 0 0 4 33 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 0.873100 2 32 0 17 2 0 0 0 0 18 2 -11.334520 1 0 0 0 1 1 3 4 1.986815 1 0.210000 3.310000 0.302305 0.990000 0.470000 1.000000 1.000000 0.936761 0.990000 1 0.840000 1.000000 ZHX3 23051 broad.mit.edu 37 20 39830760 39830760 + Missense_Mutation SNP G G A rs148495510 TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:39830760G>A ENST00000309060.3 - 4 3212 c.2797C>T c.(2797-2799)Cgt>Tgt p.R933C ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 31 Myeloproliferative disorder(115;0.00425) TCAGGGACACGGGGCTCCCAC 0.597000 0 SO:0001583 missense ENST00000309060.3 1 1 hg19 CCDS13315.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 16.58|16.58 3.162238|3.162238 0.57368|0.57368 0.0|0.0 1.16E-4|1.16E-4 ENSG00000174306|ENSG00000174306 ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262 T|T;T 0.09817|0.10477 2.94|2.87;2.87 6.02|6.02 -2.37|-2.37 0.06643|0.06643 .|. .|1.070770 .|0.07293 .|N .|0.872760 T|T 0.03695|0.03695 0.0105|0.0105 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 .|P;P .|0.40000 .|0.698;0.698 .|B;B .|0.27796 .|0.083;0.083 T|T 0.28996|0.28996 -1.0026|-1.0026 7|10 0.56958|0.59425 D|D 0.05|0.04 2.5672|2.5672 3.3151|3.3151 0.07030|0.07030 0.1075:0.3462:0.33:0.2163|0.1075:0.3462:0.33:0.2163 .|. .|933;933 .|A8K8Q0;Q9H4I2 .|.;ZHX3_HUMAN L|C 641|933;933;933;711 ENSP00000405421:P641L|ENSP00000362360:R933C;ENSP00000442290:R933C ENSP00000405421:P641L|ENSP00000312222:R933C P|R -|- 2|1 0|0 ZHX3|ZHX3 39264174|39264174 .|. .|. 0.004000|0.004000 0.12327|0.12327 0.942000|0.942000 0.58702|0.58702 .|. .|. -1.152000|-1.152000 0.02832|0.02832 -0.256000|-0.256000 0.11100|0.11100 CCG|CGT TCGA-IB-7893-01A-11D-2201-08 ZHX3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079262.3 1 0 0 47 402 0 118 0 8.206825e-01 0 29 0 118 2 0 0 0 0 0 2 1 1.000000 45 389 0 115 2 0 0 0 0 118 2 -2.415704 0 1 121412 3 37 1 1 2 3 1.936666 0 0.210000 3.310000 0.282340 0.990000 0.820000 1.000000 1.000000 0.981116 0.990000 1 0.950000 1.000000 ZMYND8 23613 broad.mit.edu 37 20 45839477 45839477 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr20:45839477C>T ENST00000311275.7 - 22 3743 c.3490G>A c.(3490-3492)Gat>Aat p.D1164N ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GTGTTGTGATCGGAACGTGTC 0.547000 0 SO:0001583 missense ENST00000311275.7 1 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 12.40|12.40 1.926139|1.926139 0.34002|0.34002 .|. .|. ENSG00000101040|ENSG00000101040 ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200 D;D;D;D;D;D;D;D;D;D;D|. 0.90444|. -1.72;-1.6;-1.72;-1.61;-1.71;-1.7;-1.69;-2.67;-1.71;-1.84;-1.72|. 4.86|4.86 4.86|4.86 0.63082|0.63082 .|. 0.398191|. 0.22055|. N|. 0.065245|. T|T 0.35098|0.35098 0.0920|0.0920 N|N 0.22421|0.22421 0.69|0.69 0.20926|0.20926 N|N 0.999822|0.999822 B;P;B;P;B;B;B;B;B;B;B;P;P;B;P|. 0.42409|. 0.002;0.482;0.074;0.482;0.233;0.001;0.373;0.233;0.305;0.305;0.305;0.555;0.779;0.0;0.555|. B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|. 0.40066|. 0.0;0.152;0.014;0.152;0.038;0.002;0.052;0.072;0.045;0.045;0.032;0.033;0.318;0.001;0.033|. T|T 0.20739|0.20739 -1.0266|-1.0266 10|5 0.72032|. D|. 0.01|. 4.4285|4.4285 12.7927|12.7927 0.57543|0.57543 0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793 .|. 1032;1219;1114;1212;1146;1113;1138;1166;1164;1083;1141;1112;1085;1066;1164|. B7ZM62;F5H0X3;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|. .;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|. N|Q 1113;1164;1032;1147;1213;1138;1164;1219;1192;1083;1166;1114;1112|1073 ENSP00000354166:D1113N;ENSP00000312237:D1164N;ENSP00000392964:D1032N;ENSP00000335537:D1138N;ENSP00000379577:D1164N;ENSP00000439800:D1219N;ENSP00000348246:D1192N;ENSP00000396725:D1083N;ENSP00000418210:D1166N;ENSP00000361093:D1114N;ENSP00000443086:D1112N|. ENSP00000262975:D1147N|. D|R -|- 1|2 0|0 ZMYND8|ZMYND8 45272884|45272884 1.000000|1.000000 0.71417|0.71417 0.959000|0.959000 0.39883|0.39883 0.036000|0.036000 0.12997|0.12997 3.683000|3.683000 0.54663|0.54663 2.399000|2.399000 0.81585|0.81585 0.462000|0.462000 0.41574|0.41574 GAT|CGA TCGA-IB-7893-01A-11D-2201-08 ZMYND8-007 KNOWN basic protein_coding protein_coding OTTHUMT00000079596.2 1 0 1 55 468 0 87 1 9.864302e-01 9 50 0 87 2 0 0 0 0 0 2 1 1.000000 53 449 0 87 2 0 0 0 0 87 2 -3.075755 1 1 121412 3 36 1 1 2 3 1.936666 0 0.210000 3.310000 0.282340 0.990000 0.840000 1.000000 1.000000 0.984811 0.990000 1 0.970000 1.000000 CDC45 8318 broad.mit.edu 37 22 19492919 19492919 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:19492919C>T ENST00000407835.1 + 11 995 c.739C>T c.(739-741)Cgc>Tgc p.R247C CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C|CDC45_ENST00000404724.3_Missense_Mutation_p.R201C O75419 CDC45_HUMAN cell division cycle 45 19 TGTCCTGCAGCGCCACGTTTC 0.537000 0 SO:0001583 missense ENST00000407835.1 1 1 hg19 CCDS13762.1 . . . . . . . . . . C 24.2 4.502953 0.85176 . . ENSG00000093009 ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724 T;T;T;T 0.23147 1.92;1.92;1.92;1.92 5.21 5.21 0.72293 . 0.000000 0.85682 D 0.000000 T 0.53351 0.1791 M 0.73962 2.25 0.80722 D 1 D;D;D;D;D 0.89917 1.0;0.998;1.0;1.0;1.0 D;D;D;D;D 0.78314 0.987;0.964;0.991;0.987;0.991 T 0.55823 -0.8080 10 0.56958 D 0.05 -20.991 18.7616 0.91853 0.0:1.0:0.0:0.0 . 279;242;201;279;247 E9PDH7;B4E092;B4DDB4;B4DDU3;O75419 .;.;.;.;CDC45_HUMAN C 247;279;247;201 ENSP00000385240:R247C;ENSP00000405726:R279C;ENSP00000263201:R247C;ENSP00000384978:R201C ENSP00000263201:R247C R + 1 0 CDC45 17872919 1.000000 0.71417 1.000000 0.80357 0.565000 0.35776 4.500000 0.60387 2.427000 0.82271 0.462000 0.41574 CGC TCGA-IB-7893-01A-11D-2201-08 CDC45-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000317903.1 1 0 0 17 214 0 42 1 5.728908e-01 4 21 0 42 2 0 0 0 0 0 2 1 0.999957 16 205 0 42 2 0 0 0 0 42 2 -19.994420 1 1 121412 1 26 1 3 3 6 2.179621 1 0.210000 3.310000 0.364748 0.970000 0.550000 1.000000 1.000000 0.894481 0.970000 1 0.730000 1.000000 GGT1 2678 broad.mit.edu 37 22 25023539 25023539 + Silent SNP C C G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:25023539C>G ENST00000400382.1 + 12 1916 c.1161C>G c.(1159-1161)gtC>gtG p.V387V GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000248923.4_Silent_p.V387V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Silent_p.V43V P19440 GGT1_HUMAN gamma-glutamyltransferase 1 40 Glutathione(DB00143) TGTCTGTCGTCGCAGAGGACG 0.657000 0 SO:0001819 synonymous_variant ENST00000400382.1 0 1 hg19 CCDS42992.1 TCGA-IB-7893-01A-11D-2201-08 GGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250797.1 0 0 0 4 152 0 23 0 3.420830e-01 0 39 0 23 2 0 0 0 0 0 2 1 0.740525 3 94 0 33 2 0 0 0 0 23 2 -6.114671 1 0 0 0 1 2 2 4 2.165217 1 0.210000 3.310000 0.347107 0.330000 0.110000 0.690000 0.280000 0.360181 0.330000 0 0.200000 0.510000 MYO18B 84700 broad.mit.edu 37 22 26164985 26164985 + Missense_Mutation SNP G G T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:26164985G>T ENST00000407587.2 + 4 1271 c.1102G>T c.(1102-1104)Gat>Tat p.D368Y MYO18B_ENST00000335473.7_Missense_Mutation_p.D368Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y Q8IUG5 MY18B_HUMAN myosin XVIIIB p.D368N(1) 146 GTTGGGGGACGATCTGAGAAT 0.552000 1 Substitution - Missense(1) SO:0001583 missense ENST00000407587.2 0 1 hg19 . . . . . . . . . . g 11.39 1.625277 0.28889 . . ENSG00000133454 ENST00000536101;ENST00000335473;ENST00000407587 D;D;D 0.86769 -2.15;-2.15;-2.17 3.98 0.318 0.15867 . 1.705140 0.04097 N 0.312179 T 0.76948 0.4059 N 0.14661 0.345 0.09310 N 1 B;P;P 0.34909 0.344;0.475;0.475 B;B;B 0.35971 0.106;0.215;0.215 T 0.67225 -0.5724 10 0.33940 T 0.23 . 6.4609 0.21956 0.1491:0.3954:0.4555:0.0 . 368;368;368 Q8IUG5;F5GXR6;F5GYU7 MY18B_HUMAN;.;. Y 368 ENSP00000441229:D368Y;ENSP00000334563:D368Y;ENSP00000386096:D368Y ENSP00000334563:D368Y D + 1 0 MYO18B 24494985 0.001000 0.12720 0.003000 0.11579 0.090000 0.18270 0.915000 0.28638 0.388000 0.25054 0.306000 0.20318 GAT TCGA-IB-7893-01A-11D-2201-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 0 4 81 0 13 0 0 0 0 13 2 0 0 0 0 0 2 1 0.870649 4 74 0 11 2 0 0 0 0 13 2 -7.554825 1 1 0 0 1 2 2 4 2.165217 1 0.210000 3.310000 0.347107 0.600000 0.200000 1.000000 1.000000 0.626233 0.600000 0 0.360000 0.910000 CYB5R3 1727 broad.mit.edu 37 22 43032758 43032758 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr22:43032758G>A ENST00000352397.5 - 2 368 c.116C>T c.(115-117)cCg>cTg p.P39L CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000361740.4_Missense_Mutation_p.P72L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L NM_000398.6 NP_000389.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 6 Flavin adenine dinucleotide(DB03147) CTTGATGTCCGGGCTCTCGAG 0.617000 0 SO:0001583 missense ENST00000352397.5 1 1 hg19 CCDS33658.1 . . . . . . . . . . G 17.34 3.365903 0.61513 0.0 1.16E-4 ENSG00000100243 ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270 D;D;D;D;D;D;D 0.86164 -2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08 4.82 4.82 0.62117 Riboflavin synthase-like beta-barrel (1); 0.000000 0.85682 D 0.000000 D 0.91774 0.7398 M 0.63843 1.955 0.80722 D 1 D;P 0.89917 1.0;0.853 D;B 0.67103 0.949;0.235 D 0.92692 0.6167 10 0.87932 D 0 -34.6456 15.7659 0.78126 0.0:0.0:1.0:0.0 . 72;39 B7Z7L3;P00387 .;NB5R3_HUMAN L 72;16;39;16;16;16;16 ENSP00000354468:P72L;ENSP00000379597:P16L;ENSP00000338461:P39L;ENSP00000384834:P16L;ENSP00000384457:P16L;ENSP00000385679:P16L;ENSP00000403439:P16L ENSP00000338461:P39L P - 2 0 CYB5R3 41362702 1.000000 0.71417 1.000000 0.80357 0.547000 0.35210 8.716000 0.91420 2.387000 0.81309 0.313000 0.20887 CCG TCGA-IB-7893-01A-11D-2201-08 CYB5R3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320439.1 1 0 1 31 140 0 34 1 1 73 710 0 34 2 0 0 0 0 0 2 1 1.000000 30 139 0 32 2 0 0 0 0 34 2 -3.227480 1 1 121410 2 35 1 2 2 4 2.156051 1 0.210000 3.310000 0.347107 0.990000 0.990000 1.000000 1.000000 0.999998 0.990000 1 0.990000 1.000000 SULT1C2 6819 broad.mit.edu 37 2 108917367 108917367 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:108917367G>A ENST00000437390.2 + 4 570 c.393G>A c.(391-393)ccG>ccA p.P131P SULT1C2_ENST00000251481.6_Silent_p.P117P|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Silent_p.P128P O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 2 20 TGCTGCCACCGTCTTTCTGGG 0.488000 0 SO:0001819 synonymous_variant ENST00000437390.2 1 0 hg19 . . . . . . . . . . G 6.403 0.442392 0.12164 . . ENSG00000198203 ENST00000438339;ENST00000409067 T 0.07021 3.23 4.31 -2.98 0.05513 . . . . . T 0.06005 0.0156 . . . 0.35515 D 0.800953 . . . . . . T 0.44982 -0.9292 5 . . . . 2.1177 0.03718 0.4494:0.1239:0.3063:0.1205 . . . . I 97;114 ENSP00000401996:V97I . V + 1 0 SULT1C2 108283799 0.000000 0.05858 0.267000 0.24556 0.795000 0.44927 -2.523000 0.00949 -0.761000 0.04670 -0.312000 0.09012 GTC TCGA-IB-7893-01A-11D-2201-08 SULT1C2-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000329969.2 0 0 1 119 517 0 85 1 9.299904e-02 2 1 0 85 2 0 0 0 0 0 2 1 1.000000 116 505 0 82 2 0 0 0 0 85 2 -20.000000 1 1 0 0 1 2 2 4 2.130471 1 0.210000 3.310000 0.347107 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 LRP1B 53353 broad.mit.edu 37 2 141771238 141771238 + Missense_Mutation SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:141771238T>A ENST00000389484.3 - 14 3238 c.2267A>T c.(2266-2268)tAt>tTt p.Y756F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) ACCATTCATATAATCAGTCCA 0.388000 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 SO:0001583 missense ENST00000389484.3 1 1 hg19 CCDS2182.1 . . . . . . . . . . T 19.58 3.854521 0.71719 . . ENSG00000168702 ENST00000389484;ENST00000544579 D 0.91124 -2.79 5.77 5.77 0.91146 Six-bladed beta-propeller, TolB-like (1); 0.000000 0.64402 U 0.000002 D 0.92750 0.7695 L 0.42008 1.315 0.53005 D 0.999968 D 0.69078 0.997 D 0.75020 0.985 D 0.91144 0.4948 10 0.25751 T 0.34 . 16.0884 0.81073 0.0:0.0:0.0:1.0 . 756 Q9NZR2 LRP1B_HUMAN F 756;694 ENSP00000374135:Y756F ENSP00000374135:Y756F Y - 2 0 LRP1B 141487708 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 7.900000 0.87376 2.203000 0.70933 0.533000 0.62120 TAT TCGA-IB-7893-01A-11D-2201-08 LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 1 0 1 129 545 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 1.000000 126 529 0 84 2 0 0 0 0 85 2 -20.000000 1 1 0 0 1 2 2 4 2.134613 1 0.210000 3.310000 0.347107 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 LRP2 4036 broad.mit.edu 37 2 170092528 170092528 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:170092528C>T ENST00000263816.3 - 29 5027 c.4742G>A c.(4741-4743)cGa>cAa p.R1581Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 315 """Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)" CATGCTGGCTCGCTCGATGCG 0.512000 0 SO:0001583 missense ENST00000263816.3 1 1 hg19 CCDS2232.1 . . . . . . . . . . C 17.39 3.378336 0.61735 . . ENSG00000081479 ENST00000263816 D 0.96300 -3.97 5.59 5.59 0.84812 Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1); 0.103871 0.64402 D 0.000006 D 0.97411 0.9153 M 0.80982 2.52 0.80722 D 1 D 0.69078 0.997 P 0.57960 0.83 D 0.97434 1.0017 10 0.72032 D 0.01 . 13.6684 0.62409 0.0:0.9199:0.0:0.0801 . 1581 P98164 LRP2_HUMAN Q 1581 ENSP00000263816:R1581Q ENSP00000263816:R1581Q R - 2 0 LRP2 169800774 1.000000 0.71417 0.990000 0.47175 0.288000 0.27193 2.417000 0.44653 2.793000 0.96121 0.655000 0.94253 CGA TCGA-IB-7893-01A-11D-2201-08 LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 1 0 0 18 188 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 0.999981 18 181 0 32 2 0 0 0 0 32 2 -19.999960 1 0 121412 2 32 1 2 2 4 2.134613 1 0.210000 3.310000 0.347107 0.990000 0.630000 1.000000 1.000000 0.930292 0.990000 1 0.810000 1.000000 ZNF142 7701 broad.mit.edu 37 2 219503301 219503301 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:219503301G>A ENST00000449707.1 - 10 5246 c.4825C>T c.(4825-4827)Cgc>Tgc p.R1609C ZNF142_ENST00000411696.2_Missense_Mutation_p.R1609C NM_001105537.1 NP_001099007.1 P52746 ZN142_HUMAN zinc finger protein 142 38 Renal(207;0.0474) GCATGATGGCGCAGGCCAGCA 0.612000 Colon(170;867 1942 8995 15834 18053) 0 SO:0001583 missense ENST00000449707.1 1 1 hg19 CCDS42817.1 . . . . . . . . . . G 24.1 4.491651 0.84962 . . ENSG00000115568 ENST00000449707;ENST00000411696 T;T 0.15952 2.38;2.38 5.83 5.83 0.93111 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.41994 0.1183 M 0.61703 1.905 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.81914 0.995;0.995 T 0.02156 -1.1204 10 0.38643 T 0.18 -50.1852 20.1133 0.97917 0.0:0.0:1.0:0.0 . 1609;1446 P52746;A8MWU9 ZN142_HUMAN;. C 1609 ENSP00000408643:R1609C;ENSP00000398798:R1609C ENSP00000398798:R1609C R - 1 0 ZNF142 219211545 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 6.267000 0.72546 2.758000 0.94735 0.609000 0.83330 CGC TCGA-IB-7893-01A-11D-2201-08 ZNF142-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336833.1 1 0 0 29 281 0 53 0 4.600542e-01 1 15 0 53 2 0 0 0 0 0 2 1 1.000000 28 272 0 53 2 0 0 0 0 53 2 -3.017764 1 1 121176 1 33 1 2 2 4 2.099050 0 0.210000 3.310000 0.340237 0.990000 0.740000 1.000000 1.000000 0.964485 0.990000 1 0.900000 1.000000 STK36 27148 broad.mit.edu 37 2 219545333 219545333 + Silent SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:219545333C>A ENST00000295709.3 + 10 1423 c.1144C>A c.(1144-1146)Cgg>Agg p.R382R STK36_ENST00000440309.1_Silent_p.R382R|STK36_ENST00000392105.3_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R NM_015690.4 NP_056505.2 serine/threonine kinase 36 52 Renal(207;0.0915) CAGGGAAAACCGGACCACCCC 0.552000 0 SO:0001819 synonymous_variant ENST00000295709.3 0 1 hg19 CCDS2421.1 TCGA-IB-7893-01A-11D-2201-08 STK36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256723.2 1 0 0 4 137 0 22 0 3.367398e-02 0 8 0 22 2 0 0 0 0 0 2 1 0.869252 4 125 0 22 2 0 0 0 0 22 2 -6.366978 1 0 0 0 1 2 2 4 2.099050 0 0.210000 3.310000 0.340237 0.370000 0.120000 1.000000 0.310000 0.421441 0.370000 0 0.220000 0.600000 TMEM18 129787 broad.mit.edu 37 2 669842 669842 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr2:669842G>A ENST00000281017.3 - 4 335 c.242C>T c.(241-243)tCg>tTg p.S81L TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L|TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) CTGGTATTTCGAAAATAATCT 0.368000 0 SO:0001583 missense ENST00000281017.3 1 1 hg19 CCDS33141.1 . . . . . . . . . . G 18.95 3.731026 0.69074 . . ENSG00000151353 ENST00000281017;ENST00000355654;ENST00000405941 . . . 5.7 5.7 0.88788 . 0.118870 0.64402 D 0.000015 T 0.79203 0.4406 M 0.88979 2.995 0.80722 D 1 D 0.76494 0.999 P 0.58172 0.834 T 0.82034 -0.0657 9 0.52906 T 0.07 -8.7508 15.4029 0.74855 0.0:0.0:1.0:0.0 . 81 Q96B42 TMM18_HUMAN L 81;68;84 . ENSP00000281017:S81L S - 2 0 TMEM18 659842 1.000000 0.71417 0.401000 0.26359 0.148000 0.21650 8.083000 0.89515 2.705000 0.92388 0.549000 0.68633 TCG TCGA-IB-7893-01A-11D-2201-08 TMEM18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322427.1 1 0 0 21 146 0 25 1 9.999982e-01 20 145 0 25 2 0 0 0 0 0 2 1 0.999997 21 139 0 25 2 0 0 0 0 25 2 -20.000000 1 1 0 0 1 2 2 4 2.130471 1 0.210000 3.310000 0.347107 0.990000 0.940000 1.000000 1.000000 0.996572 0.990000 1 0.990000 1.000000 PODXL2 50512 broad.mit.edu 37 3 127387409 127387409 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:127387409G>A ENST00000342480.6 + 5 1371 c.1332G>A c.(1330-1332)caG>caA p.Q444Q NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 26 AGAAGGAGCAGCACCTTCTCA 0.687000 0 SO:0001819 synonymous_variant ENST00000342480.6 0 1 hg19 CCDS3044.1 TCGA-IB-7893-01A-11D-2201-08 PODXL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356638.1 0 0 0 3 70 0 11 0 1.960961e-01 0 15 0 11 2 0 0 0 0 0 2 1 0.808175 2 70 0 9 2 0 0 0 0 11 2 -6.900455 1 0 121082 1 21 1 2 2 4 2.131415 1 0.210000 3.310000 0.347107 0.540000 0.160000 1.000000 1.000000 0.579566 0.540000 0 0.310000 0.870000 DOCK3 1795 broad.mit.edu 37 3 51370621 51370621 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr3:51370621G>A ENST00000266037.9 + 35 3571 c.3548G>A c.(3547-3549)cGc>cAc p.R1183H NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 45 GAAACATGGCGCGAGACCGGC 0.532000 0 SO:0001583 missense ENST00000266037.9 1 1 hg19 CCDS46835.1 . . . . . . . . . . G 34 5.411305 0.96072 0.0 1.21E-4 ENSG00000088538 ENST00000266037 T 0.52057 0.68 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 T 0.67287 0.2877 M 0.66297 2.02 0.80722 D 1 D 0.89917 1.0 D 0.72625 0.978 T 0.57312 -0.7833 10 0.18276 T 0.48 . 20.6243 0.99512 0.0:0.0:1.0:0.0 . 1183 Q8IZD9 DOCK3_HUMAN H 1183 ENSP00000266037:R1183H ENSP00000266037:R1183H R + 2 0 DOCK3 51345661 1.000000 0.71417 0.978000 0.43139 0.895000 0.52256 9.869000 0.99810 2.879000 0.98667 0.650000 0.86243 CGC TCGA-IB-7893-01A-11D-2201-08 DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346478.5 1 0 0 65 715 0 110 0 0 0 1 0 110 2 1 1 34 516 0 494 2 1 1.000000 65 703 0 110 2 0 0 0 0 110 2 -16.163120 1 1 120844 9 43 1 2 2 4 2.131415 1 0.210000 3.310000 0.347107 0.950000 0.750000 1.000000 1.000000 0.937251 0.950000 1 0.840000 1.000000 FAT4 79633 broad.mit.edu 37 4 126372829 126372829 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:126372829C>T ENST00000394329.3 + 9 10671 c.10658C>T c.(10657-10659)cCt>cTt p.P3553L FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 355 AGCACAGGTCCTGCCACCAGT 0.493000 0 SO:0001583 missense ENST00000394329.3 1 1 hg19 CCDS3732.3 . . . . . . . . . . C 14.16 2.451173 0.43531 . . ENSG00000196159 ENST00000394329;ENST00000335110 T;T 0.54279 0.58;0.58 5.91 5.91 0.95273 Cadherin (4);Cadherin-like (1); 0.000000 0.34362 U 0.004024 T 0.50051 0.1593 L 0.41632 1.29 0.80722 D 1 P;P;P 0.46142 0.873;0.72;0.617 B;B;B 0.42282 0.382;0.334;0.178 T 0.42430 -0.9452 10 0.34782 T 0.22 . 20.2985 0.98592 0.0:1.0:0.0:0.0 . 1851;3553;3553 Q6V0I7-2;Q6V0I7;Q6V0I7-3 .;FAT4_HUMAN;. L 3553;1851 ENSP00000377862:P3553L;ENSP00000335169:P1851L ENSP00000335169:P1851L P + 2 0 FAT4 126592279 0.999000 0.42202 0.574000 0.28523 0.231000 0.25187 7.662000 0.83803 2.793000 0.96121 0.655000 0.94253 CCT TCGA-IB-7893-01A-11D-2201-08 FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 1 0 1 181 683 0 163 0 9.145973e-01 1 17 0 163 2 0 0 0 0 0 2 1 1.000000 178 665 0 163 2 0 0 0 0 163 2 -3.649024 1 1 0 0 1 1 2 3 1.989324 0 0.210000 3.310000 0.285068 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 C4orf22 255119 broad.mit.edu 37 4 81791173 81791173 + Missense_Mutation SNP T T A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr4:81791173T>A ENST00000358105.3 + 4 409 c.360T>A c.(358-360)aaT>aaA p.N120K C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 15 GTGACAGAAATTCTCATGGGC 0.363000 0 SO:0001583 missense ENST00000358105.3 1 1 hg19 CCDS3587.1 . . . . . . . . . . T 13.51 2.259091 0.39896 . . ENSG00000197826 ENST00000358105;ENST00000508675 T;T 0.30448 1.53;1.53 5.07 1.47 0.22746 . 0.000000 0.85682 D 0.000000 T 0.56790 0.2009 M 0.91249 3.19 0.35988 D 0.836487 D;D 0.89917 1.0;0.997 D;D 0.79784 0.993;0.987 T 0.66232 -0.5975 10 0.66056 D 0.02 -28.3489 7.5202 0.27624 0.0:0.3305:0.0:0.6695 . 137;120 E7EQ13;Q6V702 .;CD022_HUMAN K 120;137 ENSP00000350818:N120K;ENSP00000425786:N137K ENSP00000350818:N120K N + 3 2 C4orf22 82010197 0.863000 0.29885 0.981000 0.43875 0.101000 0.19017 0.974000 0.29436 0.775000 0.33450 0.477000 0.44152 AAT TCGA-IB-7893-01A-11D-2201-08 C4orf22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252629.2 1 0 1 84 403 0 90 0 0 0 0 90 2 0 0 0 0 0 2 1 1.000000 82 393 0 90 2 0 0 0 0 90 2 -20.000000 1 1 0 0 1 1 2 3 1.989324 0 0.210000 3.310000 0.285068 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 LRP11 84918 broad.mit.edu 37 6 150164252 150164252 + Silent SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:150164252T>C ENST00000239367.2 - 3 785 c.780A>G c.(778-780)caA>caG p.Q260Q LRP11_ENST00000546019.1_Silent_p.Q5Q|LRP11_ENST00000367368.2_Silent_p.Q260Q NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) GGGTTCCTGATTGAGGCACCT 0.577000 0 SO:0001819 synonymous_variant ENST00000239367.2 1 1 hg19 CCDS5220.1 TCGA-IB-7893-01A-11D-2201-08 LRP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042664.1 1 0 1 44 303 0 60 1 9.990238e-01 11 63 0 60 2 0 0 0 0 0 2 1 1.000000 41 296 0 59 2 0 0 0 0 60 2 -20.000000 1 1 121412 1 31 1 0 2 2 1.775172 1 0.210000 3.310000 0.210000 0.990000 0.890000 1.000000 1.000000 0.993431 0.990000 1 0.990000 1.000000 BRPF3 27154 broad.mit.edu 37 6 36182091 36182091 + Missense_Mutation SNP C C T rs148223802 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:36182091C>T ENST00000357641.6 + 8 3170 c.2917C>T c.(2917-2919)Cgg>Tgg p.R973W BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 p.R973W(1) 40 GCGCCACTCCCGGAAGCGGCC 0.617000 1 Substitution - Missense(1) SO:0001583 missense ENST00000357641.6 1 1 hg19 CCDS34437.1 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 C 23.2 4.385814 0.82792 0.003633 0.0 ENSG00000096070 ENST00000357641;ENST00000534400;ENST00000394572 T;T 0.22336 2.16;1.96 5.8 5.8 0.92144 . 0.300838 0.31784 N 0.007072 T 0.39937 0.1097 M 0.72118 2.19 0.80722 D 1 D 0.89917 1.0 D 0.71656 0.974 T 0.15607 -1.0431 10 0.66056 D 0.02 . 18.2355 0.89948 0.0:1.0:0.0:0.0 . 973 Q9ULD4 BRPF3_HUMAN W 973;973;387 ENSP00000350267:R973W;ENSP00000436504:R973W ENSP00000350267:R973W R + 1 2 BRPF3 36290069 1.000000 0.71417 1.000000 0.80357 0.913000 0.54294 1.620000 0.36976 2.743000 0.94032 0.455000 0.32223 CGG TCGA-IB-7893-01A-11D-2201-08 BRPF3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000040335.3 1 0 1 41 280 0 82 1 9.701627e-01 5 36 0 82 2 0 0 0 0 0 2 1 1.000000 37 247 0 73 2 0 0 0 0 82 2 -2.473816 0 1 121390 71 49 1 0 2 2 1.775172 1 0.210000 3.310000 0.210000 0.990000 0.890000 1.000000 1.000000 0.993230 0.990000 1 0.990000 1.000000 PXT1 222659 broad.mit.edu 37 6 36368246 36368246 + Silent SNP A A G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr6:36368246A>G ENST00000454782.2 - 4 768 c.285T>C c.(283-285)caT>caC p.H95H NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 GAACCATCCTATGATCAATGT 0.507000 0 SO:0001819 synonymous_variant ENST00000454782.2 1 1 hg19 CCDS4820.2 . . . . . . . . . . A 4.071 0.011025 0.07912 . . ENSG00000179165 ENST00000459696 . . . 4.9 -4.38 0.03622 . . . . . T 0.10121 0.0248 . . . 0.09310 N 1 . . . . . . T 0.32188 -0.9916 4 . . . -6.1218 5.9208 0.19080 0.2775:0.2882:0.4342:0.0 . . . . T 19 . . I - 2 0 PXT1 36476224 0.000000 0.05858 0.003000 0.11579 0.737000 0.42083 -1.593000 0.02096 -0.991000 0.03476 0.454000 0.30748 ATA TCGA-IB-7893-01A-11D-2201-08 PXT1-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000357516.2 1 0 0 190 564 0 135 0 0 0 1 0 135 2 0 0 0 0 0 2 1 1.000000 187 542 0 134 2 0 0 0 0 135 2 -20.000000 1 1 121412 2 33 1 0 2 2 1.775172 1 0.210000 3.310000 0.210000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 DOCK4 9732 broad.mit.edu 37 7 111503593 111503593 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:111503593C>T ENST00000437633.1 - 23 2564 c.2308G>A c.(2308-2310)Gtg>Atg p.V770M DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.V770M NM_014705.3 NP_055520.3 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 p.V758M(1) 72 Acute lymphoblastic leukemia(1;0.0441) TCTGAGTACACGGCAGGGAAA 0.478000 1 Substitution - Missense(1) SO:0001583 missense ENST00000437633.1 0 1 hg19 CCDS47688.1 . . . . . . . . . . C 19.14 3.769804 0.69992 . . ENSG00000128512 ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250 T;T 0.03301 3.98;3.98 5.23 5.23 0.72850 . 0.126462 0.52532 D 0.000063 T 0.07548 0.0190 L 0.45352 1.415 0.80722 D 1 D;D;P;D 0.58268 0.97;0.97;0.947;0.982 P;B;B;P 0.46796 0.522;0.418;0.324;0.527 T 0.11372 -1.0590 10 0.54805 T 0.06 . 18.9943 0.92806 0.0:1.0:0.0:0.0 . 770;770;770;770 Q149N2;Q149N5;Q8N1I0;Q8N1I0-2 .;.;DOCK4_HUMAN;. M 758;770;770;758;769 ENSP00000410746:V770M;ENSP00000404179:V770M ENSP00000345432:V758M V - 1 0 DOCK4 111290829 0.994000 0.37717 0.985000 0.45067 0.832000 0.47134 3.082000 0.50128 2.706000 0.92434 0.563000 0.77884 GTG TCGA-IB-7893-01A-11D-2201-08 DOCK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000338369.4 1 0 1 12 105 0 24 0 6.847413e-01 0 22 0 24 2 0 0 0 0 0 2 1 0.999160 12 102 0 24 2 0 0 0 0 24 2 -18.641130 1 1 120830 2 24 1 2 2 4 2.109791 1 0.210000 3.310000 0.344833 0.990000 0.670000 1.000000 1.000000 0.962554 0.990000 1 0.910000 1.000000 CFTR 1080 broad.mit.edu 37 7 117250657 117250657 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:117250657G>A ENST00000003084.6 + 19 3205 c.3073G>A c.(3073-3075)Gct>Act p.A1025T CFTR_ENST00000454343.1_Missense_Mutation_p.A964T|AC000111.6_ENST00000456270.1_RNA NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820) AGTGATAGTGGCTTTTATTAT 0.383000 Cystic Fibrosis 0 SO:0001583 missense Familial Cancer Database CF ENST00000003084.6 1 1 hg19 CCDS5773.1 . . . . . . . . . . G 9.896 1.205615 0.22205 . . ENSG00000001626 ENST00000003084;ENST00000454343;ENST00000426809 D;D;D 0.89617 -2.54;-2.54;-2.54 6.16 4.37 0.52481 ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1); 0.194135 0.56097 N 0.000040 D 0.85767 0.5773 L 0.49571 1.57 0.35828 D 0.825115 B 0.02656 0.0 B 0.12156 0.007 D 0.84020 0.0353 10 0.48119 T 0.1 -3.1277 13.4064 0.60915 0.1273:0.0:0.8727:0.0 . 1025 P13569 CFTR_HUMAN T 1025;964;995 ENSP00000003084:A1025T;ENSP00000403677:A964T;ENSP00000389119:A995T ENSP00000003084:A1025T A + 1 0 CFTR 117037893 1.000000 0.71417 0.024000 0.17045 0.185000 0.23345 5.733000 0.68571 0.941000 0.37499 -0.157000 0.13467 GCT TCGA-IB-7893-01A-11D-2201-08 CFTR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059397.3 1 0 0 35 341 0 40 0 2.815442e-01 0 11 0 40 2 0 0 0 0 0 2 1 1.000000 33 333 0 40 2 0 0 0 0 40 2 -12.081370 1 1 0 0 1 2 2 4 2.109791 1 0.210000 3.310000 0.344833 0.990000 0.760000 1.000000 1.000000 0.968171 0.990000 1 0.910000 1.000000 WASL 8976 broad.mit.edu 37 7 123349222 123349222 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:123349222G>A ENST00000223023.4 - 2 505 c.173C>T c.(172-174)tCa>tTa p.S58L NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 29 GCACTTCTTTGACCACATACA 0.338000 0 SO:0001583 missense ENST00000223023.4 1 1 hg19 CCDS34743.1 . . . . . . . . . . G 19.62 3.860939 0.71834 . . ENSG00000106299 ENST00000223023 D 0.99422 -5.88 5.58 4.68 0.58851 EVH1 (3);Pleckstrin homology-type (1); 0.524667 0.20818 N 0.085115 D 0.97867 0.9299 L 0.42245 1.32 0.29642 N 0.84463 B 0.02656 0.0 B 0.08055 0.003 D 0.95667 0.8720 10 0.54805 T 0.06 -15.64 10.472 0.44642 0.1453:0.0:0.8547:0.0 . 58 O00401 WASL_HUMAN L 58 ENSP00000223023:S58L ENSP00000223023:S58L S - 2 0 WASL 123136458 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.849000 0.48286 2.789000 0.95967 0.655000 0.94253 TCA TCGA-IB-7893-01A-11D-2201-08 WASL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348522.1 1 0 0 38 387 0 50 1 9.999713e-01 3 157 0 50 2 0 0 0 0 0 2 1 1.000000 37 378 0 50 2 0 0 0 0 50 2 -11.821950 1 1 0 0 1 2 2 4 2.109791 1 0.210000 3.310000 0.344833 0.990000 0.740000 1.000000 1.000000 0.957134 0.990000 1 0.880000 1.000000 DAGLB 221955 broad.mit.edu 37 7 6465643 6465643 + Silent SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr7:6465643G>A ENST00000297056.6 - 7 1201 c.1032C>T c.(1030-1032)ttC>ttT p.F344F DAGLB_ENST00000436575.1_Silent_p.F303F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000421761.2_Silent_p.F88F|DAGLB_ENST00000428902.2_Silent_p.F217F NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 26 Ovarian(82;0.232) TGACGTGGATGAAGTCCCTGT 0.532000 0 SO:0001819 synonymous_variant ENST00000297056.6 1 1 hg19 CCDS5350.1 TCGA-IB-7893-01A-11D-2201-08 DAGLB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000246840.2 1 0 0 75 306 0 62 1 9.981203e-01 7 34 0 62 2 0 0 0 0 0 2 1 1.000000 72 295 0 62 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 2 2 4 2.109791 1 0.210000 3.310000 0.344833 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 VPS13B 157680 broad.mit.edu 37 8 100791108 100791108 + Missense_Mutation SNP T T C TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:100791108T>C ENST00000358544.2 + 42 7814 c.7703T>C c.(7702-7704)gTg>gCg p.V2568A VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAAGTGTGGTGAAACCCTTC 0.448000 Colon(161;2205 2542 7338 31318) 0 SO:0001583 missense ENST00000358544.2 0 1 hg19 CCDS6280.1 . . . . . . . . . . T 24.2 4.501880 0.85176 . . ENSG00000132549 ENST00000357162;ENST00000358544 T;T 0.72835 -0.69;-0.69 5.44 5.44 0.79542 . 0.073471 0.53938 D 0.000049 T 0.81456 0.4826 L 0.59436 1.845 0.80722 D 1 D;D 0.69078 0.994;0.997 D;D 0.72625 0.913;0.978 D 0.83533 0.0092 10 0.87932 D 0 . 15.4875 0.75578 0.0:0.0:0.0:1.0 . 2543;2568 Q7Z7G8-2;Q7Z7G8 .;VP13B_HUMAN A 2543;2568 ENSP00000349685:V2543A;ENSP00000351346:V2568A ENSP00000349685:V2543A V + 2 0 VPS13B 100860284 1.000000 0.71417 0.937000 0.37676 0.896000 0.52359 6.126000 0.71635 2.063000 0.61619 0.533000 0.62120 GTG TCGA-IB-7893-01A-11D-2201-08 VPS13B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277138.1 0 0 0 10 669 0 91 0 7.269072e-02 0 27 0 91 2 0 0 0 0 0 2 1 0.996461 10 652 0 91 2 0 0 0 0 91 2 -7.644808 1 1 0 0 1 2 3 5 2.282847 1 0.210000 3.310000 0.391957 0.190000 0.080000 1.000000 0.190000 0.229805 0.190000 0 0.130000 0.270000 CSGALNACT1 55790 broad.mit.edu 37 8 19363332 19363332 + Missense_Mutation SNP C C T TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr8:19363332C>T ENST00000454498.2 - 4 1027 c.14G>A c.(13-15)cGc>cAc p.R5H CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 31 CAGCCCCCGGCGAACCATCAT 0.602000 0 SO:0001583 missense ENST00000454498.2 1 1 hg19 CCDS6010.1 . . . . . . . . . . C 33 5.259207 0.95368 . . ENSG00000147408 ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213 T;T;T;T;T 0.29397 1.57;1.57;1.57;1.57;1.57 5.84 5.84 0.93424 . 0.061588 0.64402 D 0.000004 T 0.54822 0.1882 M 0.74881 2.28 0.80722 D 1 D 0.76494 0.999 P 0.60117 0.869 T 0.56643 -0.7945 10 0.87932 D 0 -29.161 18.7017 0.91623 0.0:1.0:0.0:0.0 . 5 Q8TDX6 CGAT1_HUMAN H 5 ENSP00000411816:R5H;ENSP00000330805:R5H;ENSP00000310891:R5H;ENSP00000429809:R5H;ENSP00000442155:R5H ENSP00000310891:R5H R - 2 0 CSGALNACT1 19407612 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.364000 0.79526 2.779000 0.95612 0.655000 0.94253 CGC TCGA-IB-7893-01A-11D-2201-08 CSGALNACT1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375204.1 1 0 0 37 433 0 103 0 6.410239e-01 1 26 0 103 2 0 0 0 0 0 2 1 1.000000 35 418 0 101 2 0 0 0 0 103 2 -20.000000 1 1 0 0 1 2 2 4 2.146082 1 0.210000 3.310000 0.347107 0.910000 0.650000 1.000000 1.000000 0.895492 0.910000 1 0.770000 1.000000 SVEP1 79987 broad.mit.edu 37 9 113205879 113205879 + Missense_Mutation SNP C C A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:113205879C>A ENST00000401783.2 - 27 4921 c.4585G>T c.(4585-4587)Gat>Tat p.D1529Y SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 147 AATTTCCCATCGATATAGACT 0.438000 0 SO:0001583 missense ENST00000401783.2 1 1 hg19 CCDS48004.1 . . . . . . . . . . C 21.4 4.150519 0.78001 . . ENSG00000165124 ENST00000401783;ENST00000374469;ENST00000302728 T;T;T 0.81415 -0.5;-0.5;-1.49 5.46 5.46 0.80206 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1); 0.048935 0.85682 D 0.000000 D 0.93478 0.7919 H 0.96080 3.765 0.45216 D 0.998223 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.996 D 0.95016 0.8156 10 0.87932 D 0 . 19.6743 0.95924 0.0:1.0:0.0:0.0 . 1529;1529 E9PBN8;Q4LDE5 .;SVEP1_HUMAN Y 1529;1506;1529 ENSP00000384917:D1529Y;ENSP00000363593:D1506Y;ENSP00000304118:D1529Y ENSP00000304118:D1529Y D - 1 0 SVEP1 112245700 1.000000 0.71417 0.982000 0.44146 0.866000 0.49608 5.576000 0.67437 2.721000 0.93114 0.655000 0.94253 GAT TCGA-IB-7893-01A-11D-2201-08 SVEP1-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 1 23 167 0 25 0 9.619518e-01 0 42 0 25 2 0 0 0 0 0 2 1 1.000000 23 166 0 25 2 0 0 0 0 25 2 -5.906780 1 1 0 0 1 2 2 4 2.176361 1 0.210000 3.310000 0.347107 0.990000 0.930000 1.000000 1.000000 0.995872 0.990000 1 0.990000 1.000000 ADAMTSL1 92949 broad.mit.edu 37 9 18753360 18753360 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chr9:18753360G>A ENST00000380548.4 + 16 2410 c.2071G>A c.(2071-2073)Gtc>Atc p.V691I NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 42 GACCAGAGACGTCTTCTGCAG 0.532000 0 SO:0001583 missense ENST00000380548.4 0 1 hg19 CCDS47954.1 . . . . . . . . . . G 15.33 2.801218 0.50315 . . ENSG00000178031 ENST00000380548 T 0.54071 0.59 5.85 4.93 0.64822 . 0.332935 0.13323 N 0.396531 T 0.49236 0.1545 M 0.62154 1.92 0.80722 D 1 B 0.34226 0.443 B 0.29524 0.103 T 0.49303 -0.8954 10 0.54805 T 0.06 . 11.3021 0.49311 0.1505:0.0:0.8495:0.0 . 691 Q8N6G6 ATL1_HUMAN I 691 ENSP00000369921:V691I ENSP00000369921:V691I V + 1 0 ADAMTSL1 18743360 1.000000 0.71417 0.983000 0.44433 0.706000 0.40770 5.786000 0.69006 1.412000 0.46977 0.655000 0.94253 GTC TCGA-IB-7893-01A-11D-2201-08 ADAMTSL1-012 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401206.1 0 0 0 4 135 0 19 0 1.516992e-01 0 19 0 19 2 0 0 0 0 0 2 1 0.884504 2 133 0 18 2 0 0 0 0 19 2 -6.589179 1 0 0 0 1 0 4 4 2.135437 1 0.210000 3.310000 0.347107 0.370000 0.120000 0.780000 0.320000 0.402693 0.370000 0 0.220000 0.570000 BHLHB9 80823 broad.mit.edu 37 X 102004308 102004308 + Missense_Mutation SNP G G T rs112563174 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:102004308G>T ENST00000372735.1 + 4 970 c.385G>T c.(385-387)Gct>Tct p.A129S BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 26 TGGAGAAGAGGCTGGTAATAG 0.512000 0 SO:0001583 missense ENST00000372735.1 0 1 hg19 CCDS14502.1 2 0.0012055455093429777 0 0.0 0 0.0 0 0.0 0 0.0 G 0.419 -0.909449 0.02434 0.004954 0.0 ENSG00000198908 ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735 T;T;T;T;T 0.13538 2.58;2.58;2.58;2.58;2.58 4.24 1.25 0.21368 . 1.339950 0.05332 N 0.528551 T 0.14485 0.0350 L 0.59436 1.845 0.09310 N 1 B 0.34103 0.437 B 0.32090 0.14 T 0.30534 -0.9975 9 . . . -8.1436 5.1928 0.15218 0.2257:0.1632:0.6111:0.0 . 129 Q6PI77 BHLH9_HUMAN S 129 ENSP00000403226:A129S;ENSP00000354675:A129S;ENSP00000405893:A129S;ENSP00000391722:A129S;ENSP00000361820:A129S . A + 1 0 BHLHB9 101890964 0.010000 0.17322 0.092000 0.20876 0.084000 0.17831 -0.220000 0.09215 0.118000 0.18165 0.529000 0.55759 GCT TCGA-IB-7893-01A-11D-2201-08 BHLHB9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057630.1 0 0 0 6 287 1 51 0 3.467282e-02 0 12 1 51 2 0 0 0 0 0 2 0 0.007913 6 278 1 51 18 0 0 0 1 51 2 -7.016633 1 1 121410 60 50 1 0 1 1 0.210000 3.310000 0.210000 0.100000 0.030000 0.200000 0.100000 0.111541 0.100000 0 0.060000 0.150000 GUCY2F 2986 broad.mit.edu 37 X 108718972 108718972 + Missense_Mutation SNP G G A TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:108718972G>A ENST00000218006.2 - 2 485 c.194C>T c.(193-195)tCg>tTg p.S65L NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 67 TGAAAACAGCGAATCACAAGC 0.532000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000218006.2 0 1 hg19 CCDS14545.1 . . . . . . . . . . G 12.57 1.976156 0.34848 . . ENSG00000101890 ENST00000218006 T 0.73152 -0.72 4.95 3.15 0.36227 . 0.187399 0.47852 D 0.000202 T 0.37839 0.1018 N 0.02539 -0.55 0.26327 N 0.977573 B 0.02656 0.0 B 0.01281 0.0 T 0.21586 -1.0241 10 0.11794 T 0.64 . 6.7942 0.23717 0.0986:0.0:0.7215:0.1799 . 65 P51841 GUC2F_HUMAN L 65 ENSP00000218006:S65L ENSP00000218006:S65L S - 2 0 GUCY2F 108605628 1.000000 0.71417 0.773000 0.31616 0.757000 0.42996 3.428000 0.52792 1.182000 0.42928 0.600000 0.82982 TCG TCGA-IB-7893-01A-11D-2201-08 GUCY2F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057884.1 0 0 0 5 232 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 0.931638 3 225 0 48 2 0 0 0 0 50 2 -6.414720 1 0 0 0 1 0 1 1 0.210000 3.310000 0.210000 0.100000 0.030000 0.220000 0.100000 0.117649 0.100000 0 0.060000 0.160000 GPR112 139378 broad.mit.edu 37 X 135428344 135428344 + Missense_Mutation SNP C C G rs138190399 byFrequency TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:135428344C>G ENST00000394143.1 + 6 2770 c.2479C>G c.(2479-2481)Cca>Gca p.P827A GPR112_ENST00000412101.1_Missense_Mutation_p.P622A|GPR112_ENST00000370652.1_Missense_Mutation_p.P827A|GPR112_ENST00000394141.1_Missense_Mutation_p.P622A|GPR112_ENST00000287534.4_Missense_Mutation_p.P764A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 199 Acute lymphoblastic leukemia(192;0.000127) GACCCCTGTACCAAAGTCAGC 0.388000 0 SO:0001583 missense ENST00000394143.1 0 1 hg19 CCDS35409.1 4 0.0024110910186859553 2 0.004098360655737705 0 0.0 0 0.0 0 0.0 C 12.72 2.021497 0.35701 0.016428 0.0 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.51817 0.73;0.73;0.69;0.77;0.69 2.99 -0.00263 0.14029 . . . . . T 0.33059 0.0850 L 0.29908 0.895 0.09310 N 1 B;B;D 0.76494 0.27;0.154;0.999 B;B;D 0.75484 0.095;0.053;0.986 T 0.23084 -1.0198 9 0.87932 D 0 . 4.4262 0.11503 0.0:0.3864:0.4636:0.15 . 764;622;827 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN A 827;827;622;764;622 ENSP00000377699:P827A;ENSP00000359686:P827A;ENSP00000416526:P622A;ENSP00000287534:P764A;ENSP00000377697:P622A ENSP00000287534:P764A P + 1 0 GPR112 135256010 0.000000 0.05858 0.001000 0.08648 0.084000 0.17831 -0.458000 0.06737 0.020000 0.15106 0.284000 0.19432 CCA TCGA-IB-7893-01A-11D-2201-08 GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000286639.1 0 0 0 7 347 0 63 0 0 0 0 63 2 0 0 0 0 0 2 1 0.980067 7 343 0 63 2 0 0 0 0 63 2 -3.396111 1 1 121394 169 57 1 0 1 1 0.210000 3.310000 0.210000 0.090000 0.040000 0.180000 0.090000 0.105867 0.090000 0 0.060000 0.140000 UBQLN2 29978 broad.mit.edu 37 X 56590932 56590932 + Missense_Mutation SNP C C G TCGA-IB-7893-01A-11D-2201-08 TCGA-IB-7893-10A-01D-2201-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 37ed3200-311b-4a5c-b130-04d290ed784d 38718592-ad6d-44ca-b328-88cff2eeaeec g.chrX:56590932C>G ENST00000338222.5 + 1 907 c.626C>G c.(625-627)cCa>cGa p.P209R NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 21 ATGGCTAATCCACAGATGCAG 0.463000 Esophageal Squamous(104;218 1492 6022 10838 28884) 0 SO:0001583 missense ENST00000338222.5 1 1 hg19 CCDS14374.1 . . . . . . . . . . C 15.97 2.988504 0.53934 . . ENSG00000188021 ENST00000338222;ENST00000535171 T 0.29655 1.56 4.89 4.89 0.63831 Heat shock chaperonin-binding (1);Armadillo-type fold (1); 0.000000 0.64402 D 0.000003 T 0.64360 0.2591 M 0.93106 3.38 0.80722 D 1 D;D 0.89917 0.969;1.0 P;D 0.97110 0.903;1.0 T 0.73675 -0.3908 10 0.72032 D 0.01 -5.6539 14.6449 0.68754 0.0:1.0:0.0:0.0 . 209;209 B4DZF1;Q9UHD9 .;UBQL2_HUMAN R 209 ENSP00000345195:P209R ENSP00000345195:P209R P + 2 0 UBQLN2 56607657 1.000000 0.71417 1.000000 0.80357 0.709000 0.40893 7.604000 0.82830 2.428000 0.82296 0.600000 0.82982 CCA TCGA-IB-7893-01A-11D-2201-08 UBQLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056891.1 1 0 1 35 192 0 43 1 9.999986e-01 24 96 0 43 2 0 0 0 0 0 2 1 1.000000 34 188 0 43 2 0 0 0 0 43 2 -20.000000 1 1 0 0 1 0 1 1 0.210000 3.310000 0.210000 0.720000 0.520000 0.930000 0.720000 0.732012 0.720000 0 0.610000 0.840000