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 PDCD4 27250 broad.mit.edu 37 10 112641004 112641004 + Missense_Mutation SNP A A T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:112641004A>T ENST00000280154.7 + 3 331 c.57A>T c.(55-57)ttA>ttT p.L19F PDCD4_ENST00000393104.2_Missense_Mutation_p.L8F NM_001199492.1|NM_014456.4 NP_001186421.1|NP_055271.2 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 13 Breast(234;0.0848)|Lung NSC(174;0.238) CTGATAACTTAAGTGACTCTC 0.308000 Ovarian(115;1498 1603 9363 40056 40885) 0 SO:0001583 missense ENST00000280154.7 0 1 hg19 CCDS7567.1 . . . . . . . . . . A 16.55 3.153586 0.57259 . . ENSG00000150593 ENST00000280154;ENST00000393104 T;T 0.40756 1.02;1.12 5.42 4.29 0.51040 . 0.071705 0.56097 D 0.000024 T 0.35422 0.0931 N 0.20685 0.6 0.51233 D 0.999912 D;P 0.65815 0.995;0.845 P;B 0.56278 0.795;0.261 T 0.13415 -1.0510 10 0.10377 T 0.69 -8.0641 8.1263 0.31001 0.7861:0.0:0.2139:0.0 . 19;8 Q53EL6;B5ME91 PDCD4_HUMAN;. F 19;8 ENSP00000280154:L19F;ENSP00000376816:L8F ENSP00000280154:L19F L + 3 2 PDCD4 112630994 1.000000 0.71417 1.000000 0.80357 0.873000 0.50193 1.052000 0.30429 1.002000 0.39104 -0.334000 0.08254 TTA TCGA-IB-A5ST-01A-11D-A32N-08 PDCD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050361.1 0 0 0 6 342 0 50 1 8.238542e-01 21 162 0 50 2 0 0 0 0 0 2 1 0.963058 6 335 0 50 2 0 0 0 0 50 2 -6.340241 1 1 0 0 1 1 2 3 1.998000 0 0.100000 2.040000 0.106256 0.390000 0.150000 1.000000 0.330000 0.460762 0.390000 0 0.250000 0.650000 ACSL5 51703 broad.mit.edu 37 10 114185121 114185121 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:114185121G>A ENST00000393081.1 + 18 1926 c.1619G>A c.(1618-1620)cGt>cAt p.R540H ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 21 Colorectal(252;0.117)|Breast(234;0.222) ATCATCGACCGTAAAAAGAAC 0.388000 0 SO:0001583 missense ENST00000393081.1 0 1 hg19 CCDS7573.1 . . . . . . . . . . G 34 5.397637 0.96009 . . ENSG00000197142 ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410 T;T;T;T;T;T 0.60548 0.18;0.18;0.18;0.18;0.18;0.18 5.76 5.76 0.90799 AMP-dependent synthetase/ligase (1); 0.000000 0.85682 D 0.000000 D 0.89230 0.6656 H 0.99944 5.01 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.997;0.998;0.999;0.999 D 0.94232 0.7477 10 0.87932 D 0 -12.4887 19.9576 0.97228 0.0:0.0:1.0:0.0 . 322;540;596;540 B4DX30;A6GV77;Q9ULC5-3;Q9ULC5 .;.;.;ACSL5_HUMAN H 540;540;596;540;540;322 ENSP00000346680:R540H;ENSP00000376796:R540H;ENSP00000348429:R596H;ENSP00000403647:R540H;ENSP00000346223:R540H;ENSP00000358418:R322H ENSP00000346223:R540H R + 2 0 ACSL5 114175111 1.000000 0.71417 0.964000 0.40570 0.869000 0.49853 9.869000 0.99810 2.736000 0.93811 0.655000 0.94253 CGT TCGA-IB-A5ST-01A-11D-A32N-08 ACSL5-203 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050386.1 0 0 0 6 303 0 54 0 8.775035e-01 0 193 0 54 2 0 0 0 0 0 2 1 0.964308 6 300 0 54 2 0 0 0 0 54 2 -2.715055 1 1 121412 4 37 1 1 2 3 1.998000 0 0.100000 2.040000 0.106256 0.440000 0.170000 1.000000 0.380000 0.503113 0.440000 0 0.280000 0.730000 HTRA1 5654 broad.mit.edu 37 10 124273731 124273731 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:124273731C>A ENST00000368984.3 + 9 1427 c.1299C>A c.(1297-1299)gtC>gtA p.V433V NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AAAACGACGTCATAATCAGCA 0.493000 0 SO:0001819 synonymous_variant ENST00000368984.3 0 1 hg19 CCDS7630.1 TCGA-IB-A5ST-01A-11D-A32N-08 HTRA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128327.1 0 0 0 21 967 0 288 1 9.999993e-01 4 1116 0 288 2 0 0 0 0 0 2 1 0.999997 22 950 0 284 2 0 0 0 0 288 2 -2.645926 1 1 0 0 1 1 2 3 1.998000 0 0.100000 2.040000 0.106256 0.440000 0.270000 1.000000 0.420000 0.505828 0.440000 0 0.350000 0.600000 ITIH5 80760 broad.mit.edu 37 10 7679231 7679231 + Silent SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:7679231C>T ENST00000256861.6 - 5 690 c.612G>A c.(610-612)ccG>ccA p.P204P ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000397146.2_Silent_p.P204P NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 75 TGTTGTGAAGCGGCAGCACCT 0.647000 0 SO:0001819 synonymous_variant ENST00000256861.6 1 1 hg19 TCGA-IB-A5ST-01A-11D-A32N-08 ITIH5-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000046688.1 0 0 0 24 713 0 158 0 2.197519e-01 0 26 0 158 2 0 0 0 0 0 2 1 1.000000 23 701 0 156 2 0 0 0 0 158 2 -3.193416 1 1 0 0 1 0 1 1 1.991996 0 0.100000 2.040000 0.093199 0.640000 0.420000 0.920000 0.650000 0.662074 0.640000 0 0.520000 0.790000 RRP12 23223 broad.mit.edu 37 10 99118343 99118343 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr10:99118343G>A ENST00000370992.4 - 33 3853 c.3742C>T c.(3742-3744)Ccg>Tcg p.P1248S RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 37 Colorectal(252;0.162) TAGGGATCCGGCCGGCCTTTC 0.582000 0 SO:0001583 missense ENST00000370992.4 0 1 hg19 CCDS7457.1 . . . . . . . . . . G 6.599 0.478849 0.12581 . . ENSG00000052749 ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831 T;T;T;T 0.31510 1.49;1.49;1.5;1.49 5.74 4.83 0.62350 . 0.779601 0.12532 N 0.460711 T 0.31888 0.0811 M 0.62723 1.935 0.09310 N 1 B;B;P;B 0.35456 0.357;0.284;0.502;0.07 B;B;B;B 0.31751 0.039;0.054;0.135;0.039 T 0.12528 -1.0544 10 0.27082 T 0.32 -0.6992 13.8073 0.63240 0.0:0.0:0.7211:0.2789 . 1187;1148;966;1248 E9PCK7;Q5JTH9-2;F5H456;Q5JTH9 .;.;.;RRP12_HUMAN S 1248;1148;1187;966 ENSP00000360031:P1248S;ENSP00000324315:P1148S;ENSP00000414863:P1187S;ENSP00000446184:P966S ENSP00000324315:P1148S P - 1 0 RRP12 99108333 0.535000 0.26370 0.048000 0.18961 0.005000 0.04900 3.810000 0.55613 1.409000 0.46915 -0.314000 0.08810 CCG TCGA-IB-A5ST-01A-11D-A32N-08 RRP12-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049699.4 0 0 0 7 1210 1 412 0 7.847696e-02 0 143 1 412 3 0 0 0 0 0 2 0 0.042085 8 1190 2 404 16 0 0 0 1 412 2 -2.311208 0 1 0 0 1 1 2 3 1.998000 0 0.100000 2.040000 0.106256 0.120000 0.050000 1.000000 0.110000 0.228219 0.120000 0 0.080000 0.210000 LAYN 143903 broad.mit.edu 37 11 111428363 111428363 + Silent SNP A A G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:111428363A>G ENST00000375615.3 + 7 965 c.780A>G c.(778-780)agA>agG p.R260R LAYN_ENST00000436913.2_Silent_p.R107R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Silent_p.R252R NM_001258390.1 NP_001245319.1 Q6UX15 LAYN_HUMAN layilin 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Hyaluronan(DB08818) GGATCTGTAGAAAAAGGCAAG 0.443000 Ovarian(17;551 586 12136 22082 22900) 0 SO:0001819 synonymous_variant ENST00000375615.3 1 1 hg19 CCDS58178.1 TCGA-IB-A5ST-01A-11D-A32N-08 LAYN-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000391187.1 0 0 0 52 1674 0 518 0 3.472250e-01 0 40 0 518 2 0 0 0 0 0 2 1 1.000000 52 1631 0 510 2 0 0 0 0 518 2 -3.663127 1 1 0 0 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.590000 0.440000 0.760000 0.600000 0.605718 0.590000 0 0.510000 0.680000 USP2 9099 broad.mit.edu 37 11 119243920 119243920 + Missense_Mutation SNP G G A rs146943763 by1000genomes TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:119243920G>A ENST00000260187.2 - 2 565 c.271C>T c.(271-273)Cgg>Tgg p.R91W RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) CTCTCTGCCCGCTTACCACCC 0.652000 0 SO:0001583 missense ENST00000260187.2 0 1 hg19 CCDS8422.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 10.95 1.495124 0.26774 . . ENSG00000036672 ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843 T 0.24538 1.85 5.37 3.3 0.37823 . 2.634020 0.01228 N 0.008277 T 0.23572 0.0570 L 0.27053 0.805 0.39645 D 0.970387 B 0.02656 0.0 B 0.01281 0.0 T 0.12604 -1.0541 10 0.56958 D 0.05 -5.9847 9.6628 0.39965 0.0813:0.0:0.7696:0.1491 . 91 O75604 UBP2_HUMAN W 91;61;91;91 ENSP00000260187:R91W ENSP00000260187:R91W R - 1 2 USP2 118749130 0.941000 0.31946 0.996000 0.52242 0.734000 0.41952 2.168000 0.42424 1.262000 0.44165 -0.254000 0.11334 CGG TCGA-IB-A5ST-01A-11D-A32N-08 USP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388361.2 0 0 0 6 729 1 207 0 0 0 1 1 207 2 0 0 0 0 0 2 0 0.051995 7 716 1 203 14 0 0 0 1 207 2 -2.355866 0 1 121406 5 41 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.170000 0.060000 0.330000 0.160000 0.186150 0.170000 0 0.110000 0.250000 POU2F3 25833 broad.mit.edu 37 11 120175780 120175780 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:120175780C>A ENST00000543440.2 + 7 636 c.486C>A c.(484-486)ccC>ccA p.P162P POU2F3_ENST00000260264.4_Silent_p.P164P NM_014352.3 NP_055167.2 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) CTTTAGAACCCCACCTGGAAG 0.542000 0 SO:0001819 synonymous_variant ENST00000543440.2 0 1 hg19 CCDS8431.1 TCGA-IB-A5ST-01A-11D-A32N-08 POU2F3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388039.2 0 0 0 6 489 0 103 0 0 0 0 103 2 0 0 0 0 0 2 1 0.963601 6 482 0 103 2 0 0 0 0 103 2 -2.740875 1 1 0 0 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.250000 0.100000 0.490000 0.240000 0.274261 0.250000 0 0.160000 0.370000 TECTA 7007 broad.mit.edu 37 11 121016448 121016448 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:121016448G>A ENST00000392793.1 + 12 3999 c.3728G>A c.(3727-3729)cGc>cAc p.R1243H TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H O75443 TECTA_HUMAN tectorin alpha p.R1243H(1) TECTA/TBCEL(2) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) CTGTGTGGCCGCTACAACGGC 0.532000 1 Substitution - Missense(1) SO:0001583 missense ENST00000392793.1 0 1 hg19 CCDS8434.1 . . . . . . . . . . G 19.20 3.782117 0.70222 2.27E-4 0.0 ENSG00000109927 ENST00000392793;ENST00000264037 T;T 0.59772 0.24;0.24 5.76 4.85 0.62838 von Willebrand factor, type D domain (3); 0.000000 0.64402 D 0.000005 T 0.55016 0.1894 L 0.36672 1.1 0.33742 D 0.619606 D 0.56287 0.975 P 0.50270 0.636 T 0.67632 -0.5621 10 0.59425 D 0.04 . 11.5134 0.50507 0.137:0.0:0.863:0.0 . 1243 O75443 TECTA_HUMAN H 1243 ENSP00000376543:R1243H;ENSP00000264037:R1243H ENSP00000264037:R1243H R + 2 0 TECTA 120521658 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 2.363000 0.44178 2.721000 0.93114 0.591000 0.81541 CGC TCGA-IB-A5ST-01A-11D-A32N-08 TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313850.1 0 0 0 9 390 0 121 0 0 0 0 121 2 0 0 0 0 0 2 1 0.994142 8 388 0 120 2 0 0 0 0 121 2 -2.885246 1 1 121412 7 41 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.460000 0.220000 0.790000 0.440000 0.483080 0.460000 0 0.320000 0.620000 NUP98 4928 broad.mit.edu 37 11 3697456 3697456 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:3697456T>C ENST00000324932.7 - 33 5756 c.5336A>G c.(5335-5337)tAt>tGt p.Y1779C NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) GTCCATGGCATAGTCCTCAGG 0.592000 T HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11 AML Dom yes 11 11p15 4928 nucleoporin 98kDa L 0 SO:0001583 missense ENST00000324932.7 1 1 hg19 CCDS7746.1 . . . . . . . . . . T 17.52 3.410072 0.62399 . . ENSG00000110713 ENST00000324932;ENST00000355260 . . . 5.65 5.65 0.86999 . 0.218936 0.33144 N 0.005228 T 0.75436 0.3849 L 0.60455 1.87 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 T 0.75374 -0.3340 9 0.44086 T 0.13 -11.2226 14.719 0.69291 0.0:0.0:0.0:1.0 . 1705;1779;1693 P52948-2;P52948-5;P52948-6 .;.;. C 1779;1705 . ENSP00000316032:Y1779C Y - 2 0 NUP98 3654032 1.000000 0.71417 1.000000 0.80357 0.916000 0.54674 7.619000 0.83057 2.161000 0.67846 0.454000 0.30748 TAT TCGA-IB-A5ST-01A-11D-A32N-08 NUP98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032766.3 0 0 1 13 399 0 109 1 9.232123e-01 20 118 0 109 2 0 0 0 0 0 2 1 0.999520 13 395 0 108 2 0 0 0 0 109 2 -13.098230 1 1 121412 2 34 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.630000 0.350000 1.000000 1.000000 0.652737 0.630000 0 0.480000 0.820000 CKAP5 9793 broad.mit.edu 37 11 46782199 46782199 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:46782199G>A ENST00000529230.1 - 33 4403 c.4357C>T c.(4357-4359)Cgc>Tgc p.R1453C SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 p.R1453C(1) 43 GGTCCCTTGCGTAACATGTTG 0.483000 Ovarian(4;85 273 2202 4844 13323) 1 Substitution - Missense(1) SO:0001583 missense ENST00000529230.1 1 1 hg19 CCDS31477.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 20.7|20.7 4.036557|4.036557 0.75617|0.75617 .|. .|. ENSG00000175216|ENSG00000175216 ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333 T;T;T;T|. 0.51071|. 0.72;0.74;0.74;0.74|. 6.03|6.03 5.12|5.12 0.69794|0.69794 Armadillo-like helical (1);Armadillo-type fold (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.56455|0.56455 0.1986|0.1986 L|L 0.32530|0.32530 0.975|0.975 0.80722|0.80722 D|D 1|1 D;B;B|. 0.89917|. 1.0;0.004;0.002|. D;B;B|. 0.72625|. 0.978;0.001;0.0|. T|T 0.52866|0.52866 -0.8518|-0.8518 10|5 0.59425|. D|. 0.04|. -10.0088|-10.0088 15.5956|15.5956 0.76578|0.76578 0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0 .|. 1453;1453;1453|. Q14008-3;Q14008-2;Q14008|. .;.;CKAP5_HUMAN|. C|M 1453;1453;1453;1453;176|1 ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|. ENSP00000310227:R1453C|. R|T -|- 1|2 0|0 CKAP5|CKAP5 46738775|46738775 1.000000|1.000000 0.71417|0.71417 0.939000|0.939000 0.37840|0.37840 0.997000|0.997000 0.91878|0.91878 5.506000|5.506000 0.66993|0.66993 1.556000|1.556000 0.49512|0.49512 0.655000|0.655000 0.94253|0.94253 CGC|ACG TCGA-IB-A5ST-01A-11D-A32N-08 CKAP5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390679.1 0 0 1 8 273 0 45 1 6.820832e-01 12 67 0 45 2 0 0 0 0 0 2 1 0.989021 8 269 0 45 2 0 0 0 0 45 2 -3.468434 1 1 121410 2 36 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.580000 0.270000 1.000000 1.000000 0.605481 0.580000 0 0.400000 0.800000 OR5D13 390142 broad.mit.edu 37 11 55541693 55541693 + Silent SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:55541693T>C ENST00000361760.1 + 1 780 c.780T>C c.(778-780)ctT>ctC p.L260L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 40 all_epithelial(135;0.196) TCCTTTTCCTTTACTGTGTTC 0.458000 0 SO:0001819 synonymous_variant ENST00000361760.1 0 1 hg19 CCDS31507.1 TCGA-IB-A5ST-01A-11D-A32N-08 OR5D13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391511.1 0 0 0 4 326 0 41 0 0 0 0 41 2 0 0 0 0 0 2 1 0.887377 4 321 0 40 2 0 0 0 0 41 2 -5.090844 1 1 0 0 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.260000 0.080000 0.560000 0.240000 0.290344 0.260000 0 0.160000 0.410000 SLC25A22 79751 broad.mit.edu 37 11 792328 792328 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:792328C>T ENST00000320230.5 - 8 1199 c.718G>A c.(718-720)Gct>Act p.A240T SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) ACGGCCACAGCGGCGGCACTC 0.682000 Colon(93;848 1468 3270 23355 49636) 0 SO:0001583 missense ENST00000320230.5 1 1 hg19 CCDS7715.1 . . . . . . . . . . C 15.88 2.962796 0.53507 . . ENSG00000177542 ENST00000320230;ENST00000531214 T;T 0.78595 -1.19;-1.19 3.8 2.88 0.33553 Mitochondrial carrier domain (2); 0.000000 0.85682 D 0.000000 T 0.79845 0.4516 L 0.38953 1.18 0.80722 D 1 D 0.76494 0.999 D 0.69824 0.966 T 0.76345 -0.2993 10 0.31617 T 0.26 -17.7338 11.5497 0.50713 0.0:0.9115:0.0:0.0885 . 240 Q9H936 GHC1_HUMAN T 240 ENSP00000322020:A240T;ENSP00000437236:A240T ENSP00000322020:A240T A - 1 0 SLC25A22 782328 1.000000 0.71417 0.020000 0.16555 0.002000 0.02628 5.614000 0.67695 0.959000 0.37980 -0.199000 0.12753 GCT TCGA-IB-A5ST-01A-11D-A32N-08 SLC25A22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257107.2 0 0 1 15 673 0 207 1 2.376748e-01 18 22 0 207 2 0 0 0 0 0 2 1 0.999861 17 664 0 206 2 0 0 0 0 207 2 -2.675842 1 1 121318 1 32 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.430000 0.250000 0.680000 0.430000 0.454050 0.430000 0 0.330000 0.560000 TYR 7299 broad.mit.edu 37 11 88911586 88911586 + Silent SNP C C A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:88911586C>A ENST00000263321.5 + 1 967 c.465C>A c.(463-465)acC>acA p.T155T TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600) CCATAGGGACCTATGGCCAAA 0.413000 0 SO:0001819 synonymous_variant ENST00000263321.5 1 1 hg19 CCDS8284.1 TCGA-IB-A5ST-01A-11D-A32N-08 TYR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394045.2 0 0 0 24 629 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 1.000000 24 626 0 103 2 0 0 0 0 105 2 -2.909917 1 1 121412 1 36 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.730000 0.480000 1.000000 1.000000 0.742908 0.730000 0 0.590000 0.890000 MTNR1B 4544 broad.mit.edu 37 11 92715132 92715132 + Missense_Mutation SNP G G A rs150751119 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr11:92715132G>A ENST00000257068.2 + 2 749 c.743G>A c.(742-744)cGg>cAg p.R248Q NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980) AGCGACTTGCGGAGCTTTCTA 0.572000 0 SO:0001583 missense ENST00000257068.2 0 1 hg19 CCDS8290.1 . . . . . . . . . . G 31 5.069708 0.93950 0.0 1.16E-4 ENSG00000134640 ENST00000257068 T 0.40225 1.04 4.21 4.21 0.49690 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.59528 0.2200 M 0.84683 2.71 0.80722 D 1 D 0.57257 0.979 P 0.51170 0.661 T 0.70923 -0.4740 10 0.72032 D 0.01 -22.6709 17.1314 0.86727 0.0:0.0:1.0:0.0 . 248 P49286 MTR1B_HUMAN Q 248 ENSP00000257068:R248Q ENSP00000257068:R248Q R + 2 0 MTNR1B 92354780 1.000000 0.71417 0.990000 0.47175 0.851000 0.48451 4.111000 0.57838 2.338000 0.79540 0.491000 0.48974 CGG TCGA-IB-A5ST-01A-11D-A32N-08 MTNR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394323.1 0 0 0 7 377 0 108 0 0 0 0 108 2 0 0 0 0 0 2 1 0.980098 8 372 0 108 2 0 0 0 0 108 2 -2.029878 0 1 121412 2 40 1 0 1 1 1.992939 0 0.100000 2.040000 0.093656 0.370000 0.160000 0.690000 0.350000 0.401217 0.370000 0 0.250000 0.530000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 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 0 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-A5ST-01A-11D-A32N-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 4 93 0 18 1 3.527587e-01 8 17 0 18 2 1 9.908627e-01 5 232 0 211 2 1 0.889430 4 92 0 18 2 1 1 438 7599 0 18 2 -4.082842 1 1 121404 2 44 1 1 2 3 1.998090 0 0.100000 2.040000 0.106256 0.930000 0.310000 1.000000 1.000000 0.824213 0.930000 1 0.560000 1.000000 ADCY6 112 broad.mit.edu 37 12 49164612 49164612 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:49164612G>A ENST00000307885.4 - 19 3887 c.3193C>T c.(3193-3195)Cgg>Tgg p.R1065W ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 29 TCCATGAGCCGCATGGCGTAG 0.552000 0 SO:0001583 missense ENST00000307885.4 0 1 hg19 CCDS8767.1 . . . . . . . . . . G 21.2 4.109958 0.77210 . . ENSG00000174233 ENST00000357869;ENST00000550422;ENST00000307885 T;T;T 0.31510 1.49;1.49;1.49 4.88 4.88 0.63580 Adenylyl cyclase class-3/4/guanylyl cyclase (5); 0.000000 0.85682 D 0.000000 T 0.57740 0.2074 M 0.85041 2.73 0.49130 D 0.999752 D;D 0.89917 1.0;0.999 D;D 0.75020 0.963;0.985 T 0.63202 -0.6690 10 0.72032 D 0.01 . 12.7647 0.57385 0.0:0.0:0.8354:0.1646 . 1012;1065 O43306-2;O43306 .;ADCY6_HUMAN W 1012;1012;1065 ENSP00000350536:R1012W;ENSP00000446730:R1012W;ENSP00000311405:R1065W ENSP00000311405:R1065W R - 1 2 ADCY6 47450879 0.952000 0.32445 1.000000 0.80357 0.994000 0.84299 1.074000 0.30703 2.649000 0.89929 0.650000 0.86243 CGG TCGA-IB-A5ST-01A-11D-A32N-08 ADCY6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408863.1 0 0 0 6 424 0 101 0 1.366642e-01 0 39 0 101 2 0 0 0 0 0 2 1 0.964200 6 420 0 99 2 0 0 0 0 101 2 -2.197220 0 1 121412 3 38 1 1 2 3 1.998090 0 0.100000 2.040000 0.106256 0.310000 0.120000 1.000000 0.280000 0.395864 0.310000 0 0.200000 0.530000 GTSF1 121355 broad.mit.edu 37 12 54858949 54858949 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:54858949C>T ENST00000552397.1 - 3 915 c.19G>A c.(19-21)Gac>Aac p.D7N RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_Intron Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 5 Myeloproliferative disorder(1001;0.00452) TCCAGGGAGTCGGCTGAAAGA 0.428000 0 SO:0001583 missense ENST00000552397.1 0 1 hg19 CCDS8881.1 . . . . . . . . . . C 25.8 4.672837 0.88445 2.27E-4 0.0 ENSG00000170627 ENST00000552397;ENST00000305879 T;T 0.54071 0.59;0.59 5.57 5.57 0.84162 . 0.152500 0.56097 D 0.000021 T 0.59878 0.2226 M 0.68952 2.095 0.47621 D 0.999471 D 0.63046 0.992 P 0.48454 0.578 T 0.59451 -0.7452 10 0.37606 T 0.19 -22.3962 17.4106 0.87484 0.0:1.0:0.0:0.0 . 7 Q8WW33 GTSF1_HUMAN N 7 ENSP00000446485:D7N;ENSP00000304185:D7N ENSP00000304185:D7N D - 1 0 GTSF1 53145216 0.979000 0.34478 0.999000 0.59377 0.916000 0.54674 2.429000 0.44758 2.785000 0.95823 0.655000 0.94253 GAC TCGA-IB-A5ST-01A-11D-A32N-08 GTSF1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406187.1 0 0 0 8 274 0 45 0 3.250271e-03 0 3 0 45 2 0 0 0 0 0 2 1 0.988355 8 266 0 45 2 0 0 0 0 45 2 -3.269909 1 1 121412 17 43 1 1 2 3 1.998090 0 0.100000 2.040000 0.106256 0.620000 0.280000 1.000000 1.000000 0.657141 0.620000 0 0.420000 0.970000 C12orf74 338809 broad.mit.edu 37 12 93100538 93100538 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr12:93100538G>A ENST00000397833.3 + 2 582 c.131G>A c.(130-132)cGc>cAc p.R44H C12orf74_ENST00000544406.2_Missense_Mutation_p.R44H NM_001037671.3|NM_001178097.2 NP_001032760.1|NP_001171568.1 Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 10 GCCCCAGGCCGCATCTCCACC 0.642000 0 SO:0001583 missense ENST00000397833.3 0 1 hg19 CCDS41819.1 . . . . . . . . . . G 12.32 1.903105 0.33628 . . ENSG00000214215 ENST00000397833;ENST00000544406 . . . 4.98 4.08 0.47627 . . . . . T 0.24084 0.0583 N 0.24115 0.695 0.18873 N 0.999983 P;P 0.43938 0.822;0.822 B;B 0.37943 0.261;0.261 T 0.06991 -1.0796 8 0.59425 D 0.04 -16.0586 9.522 0.39140 0.0971:0.0:0.9029:0.0 . 44;44 F5H4P0;Q32Q52 .;CL074_HUMAN H 44 . ENSP00000380933:R44H R + 2 0 C12orf74 91624669 0.014000 0.17966 0.083000 0.20561 0.338000 0.28826 1.061000 0.30542 1.295000 0.44724 0.462000 0.41574 CGC TCGA-IB-A5ST-01A-11D-A32N-08 C12orf74-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000407285.1 0 0 0 5 391 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 0.935813 5 386 0 84 2 0 0 0 0 85 2 -2.799622 1 1 120848 7 38 1 1 2 3 1.998090 0 0.100000 2.040000 0.106256 0.290000 0.100000 1.000000 0.250000 0.375619 0.290000 0 0.180000 0.510000 FAM155A 728215 broad.mit.edu 37 13 108518385 108518385 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:108518385G>A ENST00000375915.2 - 1 698 c.560C>T c.(559-561)gCg>gTg p.A187V NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 33 CACCGCGTCCGCATTCTCCAC 0.652000 0 SO:0001583 missense ENST00000375915.2 0 1 hg19 CCDS32006.1 . . . . . . . . . . G 15.10 2.734242 0.48939 . . ENSG00000204442 ENST00000375915 T 0.11169 2.8 5.89 5.04 0.67666 . 0.189112 0.43919 D 0.000518 T 0.16981 0.0408 L 0.29908 0.895 0.44085 D 0.996848 D 0.71674 0.998 P 0.54346 0.749 T 0.01146 -1.1437 10 0.62326 D 0.03 . 15.5308 0.75960 0.0:0.0:0.8609:0.1391 . 187 B1AL88 F155A_HUMAN V 187 ENSP00000365080:A187V ENSP00000365080:A187V A - 2 0 FAM155A 107316386 1.000000 0.71417 0.980000 0.43619 0.004000 0.04260 9.147000 0.94646 1.479000 0.48272 -0.314000 0.08810 GCG TCGA-IB-A5ST-01A-11D-A32N-08 FAM155A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045736.2 0 0 0 7 673 1 136 0 5.198303e-03 0 9 1 136 2 0 0 0 0 0 2 0 0.028339 8 662 1 134 17 0 0 0 1 136 2 -1.951316 0 1 0 0 1 1 2 3 2.019891 0 0.100000 2.040000 0.111111 0.240000 0.090000 1.000000 0.200000 0.372013 0.240000 0 0.150000 1.000000 DCLK1 9201 broad.mit.edu 37 13 36445384 36445384 + Missense_Mutation SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr13:36445384T>G ENST00000360631.3 - 5 1128 c.917A>C c.(916-918)aAg>aCg p.K306T DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K306T O15075 DCLK1_HUMAN doublecortin-like kinase 1 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) GGCAGGGGACTTGCTACGCCT 0.532000 0 SO:0001583 missense ENST00000360631.3 0 1 hg19 . . . . . . . . . . T 21.3 4.125614 0.77436 . . ENSG00000133083 ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892 T;T;T 0.68765 -0.35;-0.35;1.65 5.28 5.28 0.74379 . 0.112949 0.64402 D 0.000015 T 0.80894 0.4711 M 0.75777 2.31 0.53688 D 0.999973 D 0.76494 0.999 D 0.72982 0.979 T 0.82244 -0.0553 10 0.51188 T 0.08 . 15.5029 0.75713 0.0:0.0:0.0:1.0 . 306 O15075-2 . T 306 ENSP00000255448:K306T;ENSP00000353846:K306T;ENSP00000369222:K306T ENSP00000255448:K306T K - 2 0 DCLK1 35343384 1.000000 0.71417 0.995000 0.50966 0.995000 0.86356 5.611000 0.67674 2.115000 0.64714 0.533000 0.62120 AAG TCGA-IB-A5ST-01A-11D-A32N-08 DCLK1-010 KNOWN basic protein_coding protein_coding OTTHUMT00000044487.1 0 0 0 6 558 0 127 0 1.395883e-02 0 14 0 127 2 0 0 0 0 0 2 1 0.963149 6 548 0 124 2 0 0 0 0 127 2 -5.302436 1 1 0 0 1 1 2 3 2.019891 0 0.100000 2.040000 0.111111 0.250000 0.090000 1.000000 0.220000 0.381983 0.250000 0 0.160000 1.000000 CSPG4 1464 broad.mit.edu 37 15 75968972 75968972 + Missense_Mutation SNP T T A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr15:75968972T>A ENST00000308508.5 - 10 5980 c.5888A>T c.(5887-5889)cAg>cTg p.Q1963L CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 48 GAGCTGCTGCTGGCTCAGTGA 0.672000 0 SO:0001583 missense ENST00000308508.5 1 1 hg19 CCDS10284.1 . . . . . . . . . . T 10.61 1.399616 0.25291 . . ENSG00000173546 ENST00000308508 T 0.18016 2.24 5.15 -6.2 0.02072 . 0.815436 0.10720 N 0.641890 T 0.09949 0.0244 L 0.34521 1.04 0.09310 N 0.999999 B 0.14438 0.01 B 0.11329 0.006 T 0.33214 -0.9877 10 0.25751 T 0.34 . 8.6049 0.33767 0.0:0.2126:0.3399:0.4475 . 1963 Q6UVK1 CSPG4_HUMAN L 1963 ENSP00000312506:Q1963L ENSP00000312506:Q1963L Q - 2 0 CSPG4 73756027 0.037000 0.19845 0.433000 0.26760 0.950000 0.60333 0.260000 0.18424 -1.050000 0.03230 -0.337000 0.08149 CAG TCGA-IB-A5ST-01A-11D-A32N-08 CSPG4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000286472.1 1 0 0 18 495 0 143 0 2.630517e-01 0 27 0 143 2 0 0 0 0 0 2 1 0.999982 18 493 0 141 2 0 0 0 0 143 2 -16.792810 1 1 0 0 1 0 0 0 1.966184 0 0.100000 2.040000 0.080695 0.680000 0.420000 1.000000 1.000000 0.702847 0.680000 0 0.540000 0.860000 ANKS4B 257629 broad.mit.edu 37 16 21261762 21261762 + Missense_Mutation SNP G G C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:21261762G>C ENST00000311620.5 + 2 948 c.875G>C c.(874-876)aGa>aCa p.R292T NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 20 GATAGCAAGAGAGAGTTTGGT 0.458000 0 SO:0001583 missense ENST00000311620.5 0 1 hg19 CCDS42130.1 . . . . . . . . . . G 4.587 0.108980 0.08780 . . ENSG00000175311 ENST00000311620 T 0.44881 0.91 5.77 4.8 0.61643 . 0.168743 0.53938 N 0.000044 T 0.44932 0.1317 M 0.70595 2.14 0.41181 D 0.986238 B 0.02656 0.0 B 0.04013 0.001 T 0.44236 -0.9341 10 0.59425 D 0.04 -10.1277 14.5212 0.67851 0.0:0.1479:0.8521:0.0 . 292 Q8N8V4 ANS4B_HUMAN T 292 ENSP00000308772:R292T ENSP00000308772:R292T R + 2 0 ANKS4B 21169263 0.614000 0.27017 0.963000 0.40424 0.060000 0.15804 1.431000 0.34925 1.416000 0.47057 -0.282000 0.10007 AGA TCGA-IB-A5ST-01A-11D-A32N-08 ANKS4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436535.1 0 0 1 4 154 0 39 1 2.535692e-01 14 17 0 39 2 0 0 0 0 0 2 1 0.886830 4 151 0 39 2 0 0 0 0 39 2 -6.573118 1 1 0 0 1 1 2 3 2.032587 0 0.100000 2.040000 0.113737 0.650000 0.200000 1.000000 1.000000 0.673959 0.650000 0 0.370000 1.000000 ITGAD 3681 broad.mit.edu 37 16 31434506 31434506 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:31434506G>A ENST00000389202.2 + 24 2901 c.2852G>A c.(2851-2853)cGa>cAa p.R951Q NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D p.R951Q(1) 71 GCTGAGCATCGATACCGTGTG 0.498000 1 Substitution - Missense(1) SO:0001583 missense ENST00000389202.2 0 1 hg19 CCDS32438.1 . . . . . . . . . . G 10.37 1.331575 0.24167 . . ENSG00000156886 ENST00000444228;ENST00000389202 T 0.44482 0.92 5.59 1.43 0.22495 Integrin alpha-2 (1); . . . . T 0.20251 0.0487 L 0.28400 0.85 0.09310 N 1 P;P 0.47034 0.889;0.889 B;B 0.28638 0.092;0.092 T 0.09443 -1.0674 9 0.20046 T 0.44 . 7.3842 0.26872 0.3411:0.0:0.6589:0.0 . 967;951 Q59H14;Q13349 .;ITAD_HUMAN Q 967;951 ENSP00000373854:R951Q ENSP00000373854:R951Q R + 2 0 ITGAD 31342007 0.000000 0.05858 0.003000 0.11579 0.453000 0.32348 -0.053000 0.11846 0.704000 0.31869 0.650000 0.86243 CGA TCGA-IB-A5ST-01A-11D-A32N-08 ITGAD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432836.1 0 0 0 5 215 0 47 0 0 0 1 0 47 2 0 0 0 0 0 2 1 0.935984 5 212 0 47 2 0 0 0 0 47 2 -3.406568 1 1 121412 6 36 1 1 2 3 2.032587 0 0.100000 2.040000 0.113737 0.560000 0.200000 1.000000 1.000000 0.623630 0.560000 0 0.340000 1.000000 LPCAT2 54947 broad.mit.edu 37 16 55579653 55579653 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr16:55579653C>T ENST00000262134.5 + 9 1043 c.859C>T c.(859-861)Cca>Tca p.P287S NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 12 TCAGTTTATGCCAGTTCAAGT 0.289000 0 SO:0001583 missense ENST00000262134.5 0 1 hg19 CCDS10753.1 . . . . . . . . . . C 28.6 4.935213 0.92458 . . ENSG00000087253 ENST00000262134 D 0.93906 -3.31 6.02 6.02 0.97574 . 0.000000 0.85682 D 0.000000 D 0.97192 0.9082 M 0.93898 3.47 0.80722 D 1 D 0.65815 0.995 P 0.55965 0.788 D 0.97520 1.0072 10 0.87932 D 0 -16.5825 20.1358 0.98028 0.0:1.0:0.0:0.0 . 287 Q7L5N7 PCAT2_HUMAN S 287 ENSP00000262134:P287S ENSP00000262134:P287S P + 1 0 LPCAT2 54137154 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 4.876000 0.63079 2.865000 0.98341 0.655000 0.94253 CCA TCGA-IB-A5ST-01A-11D-A32N-08 LPCAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256977.2 0 0 0 5 363 0 43 0 2.033785e-01 0 51 0 43 2 0 0 0 0 0 2 1 0.936602 5 360 0 43 2 0 0 0 0 43 2 -1.896728 0 1 121402 1 27 1 1 2 3 2.032587 0 0.100000 2.040000 0.113737 0.340000 0.120000 1.000000 0.260000 0.462001 0.340000 0 0.200000 1.000000 MAP2K3 5606 broad.mit.edu 37 17 21204188 21204188 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:21204188G>A ENST00000342679.4 + 5 531 c.282G>A c.(280-282)cgG>cgA p.R94R MAP2K3_ENST00000361818.5_Silent_p.R65R|MAP2K3_ENST00000316920.6_Silent_p.R65R NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 CCCTGCAGCGGATCCGGGCCA 0.612000 0 SO:0001819 synonymous_variant ENST00000342679.4 0 1 hg19 CCDS11217.1 TCGA-IB-A5ST-01A-11D-A32N-08 MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259374.2 0 0 0 6 391 0 101 1 6.428438e-01 9 126 0 101 2 0 0 0 0 0 2 1 0.962993 6 383 0 101 2 0 0 0 0 101 2 -6.267752 1 0 0 0 1 0 1 1 1.979359 0 0.100000 2.040000 0.090450 0.310000 0.130000 0.600000 0.290000 0.338410 0.310000 0 0.200000 0.460000 MAP2K3 5606 broad.mit.edu 37 17 21204218 21204218 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:21204218G>A ENST00000342679.4 + 5 561 c.312G>A c.(310-312)caG>caA p.Q104Q MAP2K3_ENST00000361818.5_Silent_p.Q75Q|MAP2K3_ENST00000316920.6_Silent_p.Q75Q NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 CACAGGAGCAGAAGCGGCTGC 0.587000 0 SO:0001819 synonymous_variant ENST00000342679.4 0 1 hg19 CCDS11217.1 TCGA-IB-A5ST-01A-11D-A32N-08 MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259374.2 0 0 0 6 487 0 133 1 4.841150e-01 10 110 0 133 2 0 0 0 0 0 2 1 0.962893 6 477 0 133 2 0 0 0 0 133 2 -5.437685 1 0 0 0 1 0 1 1 1.979359 0 0.100000 2.040000 0.090450 0.250000 0.100000 0.490000 0.240000 0.274158 0.250000 0 0.160000 0.370000 MYBBP1A 10514 broad.mit.edu 37 17 4453441 4453441 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:4453441G>A ENST00000254718.4 - 9 1537 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 24 AACATGGCCCGCAGCCAGGCC 0.597000 0 SO:0001583 missense ENST00000254718.4 0 1 hg19 CCDS11046.1 . . . . . . . . . . G 14.19 2.462466 0.43736 . . ENSG00000132382 ENST00000381556;ENST00000254718;ENST00000426435 T;T 0.52057 0.68;0.68 5.06 5.06 0.68205 Armadillo-type fold (1); 0.730054 0.13638 N 0.373192 T 0.52549 0.1741 L 0.51422 1.61 0.25166 N 0.990316 D;D 0.60160 0.987;0.984 P;P 0.52909 0.713;0.59 T 0.44559 -0.9320 10 0.41790 T 0.15 -17.3908 10.9319 0.47222 0.0:0.0:0.8133:0.1867 . 411;411 Q9BQG0;Q9BQG0-2 MBB1A_HUMAN;. W 411 ENSP00000370968:R411W;ENSP00000254718:R411W ENSP00000254718:R411W R - 1 2 MYBBP1A 4400190 0.867000 0.29959 0.946000 0.38457 0.017000 0.09413 4.116000 0.57871 2.642000 0.89623 0.655000 0.94253 CGG TCGA-IB-A5ST-01A-11D-A32N-08 MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000207488.2 0 0 0 6 335 0 101 0 2.070832e-01 0 41 0 101 2 0 0 0 0 0 2 1 0.965007 6 334 0 101 2 0 0 0 0 101 2 -2.433878 0 1 121412 1 29 1 0 1 1 1.979359 0 0.100000 2.040000 0.090450 0.360000 0.150000 0.690000 0.340000 0.391933 0.360000 0 0.240000 0.530000 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr17:7577539G>A ENST00000269305.4 - 7 931 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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 617 Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2) GRCh37 CM010465|CM900211 TP53 M rs121912651 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 . . . . . . . . . . G 18.84 3.710019 0.68730 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 D;D;D;D;D;D;D;D 0.99869 -7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34 4.62 2.56 0.30785 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 0.99843 0.9928 M 0.92507 3.315 0.58432 A 0.999997 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0;1.0 D 0.97208 0.9869 9 0.87932 D 0 -9.5643 7.568 0.27890 0.0893:0.0:0.7471:0.1636 . 248;248;155;248;248;248 P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;P53_HUMAN;.;. W 248;248;248;248;248;248;237;155;116;155 ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W ENSP00000269305:R248W R - 1 2 TP53 7518264 1.000000 0.71417 1.000000 0.80357 0.910000 0.53928 1.447000 0.35101 0.644000 0.30656 0.462000 0.41574 CGG TCGA-IB-A5ST-01A-11D-A32N-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 0 0 0 11 315 0 100 1 8.015003e-01 22 66 0 100 2 1 9.999550e-01 13 552 0 793 2 1 0.998262 11 310 0 100 2 0 0 0 0 100 2 -2.641153 1 1 121412 1 37 1 0 1 1 1.979359 0 0.100000 2.040000 0.090450 0.670000 0.360000 1.000000 1.000000 0.692844 0.670000 0 0.500000 0.890000 FFAR3 2865 broad.mit.edu 37 19 35850345 35850345 + Missense_Mutation SNP C C T rs150489647 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:35850345C>T ENST00000327809.4 + 2 754 c.553C>T c.(553-555)Cgg>Tgg p.R185W FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTGCCCGTGCGGCTGGAGAT 0.622000 Esophageal Squamous(185;1742 2042 21963 24215 27871) 0 SO:0001583 missense ENST00000327809.4 0 1 hg19 CCDS12459.1 . . . . . . . . . . C 13.50 2.255435 0.39896 . . ENSG00000185897 ENST00000327809 T 0.37752 1.18 5.13 2.75 0.32379 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 U 0.000000 T 0.59932 0.2230 M 0.82517 2.595 0.38954 D 0.958414 D 0.89917 1.0 D 0.97110 1.0 T 0.65516 -0.6149 10 0.38643 T 0.18 -24.346 13.0743 0.59079 0.316:0.684:0.0:0.0 . 185 O14843 FFAR3_HUMAN W 185 ENSP00000328230:R185W ENSP00000328230:R185W R + 1 2 FFAR3 40542185 0.985000 0.35326 0.625000 0.29200 0.069000 0.16628 3.235000 0.51328 1.110000 0.41699 0.455000 0.32223 CGG TCGA-IB-A5ST-01A-11D-A32N-08 FFAR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418873.2 0 0 0 6 363 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 0.947341 6 315 0 100 2 0 0 0 0 89 2 -2.998623 1 1 121404 1 31 1 1 2 3 2.030591 0 0.100000 2.040000 0.113300 0.390000 0.150000 1.000000 0.320000 0.501218 0.390000 0 0.240000 1.000000 CEACAM7 1087 broad.mit.edu 37 19 42190935 42190935 + Silent SNP G G A rs145571605 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:42190935G>A ENST00000006724.3 - 2 483 c.282C>T c.(280-282)ccC>ccT p.P94P CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000338196.4_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 18 CGTTGTGTGCGGGCCCTGGGG 0.443000 0 SO:0001819 synonymous_variant ENST00000006724.3 0 1 hg19 CCDS12583.1 TCGA-IB-A5ST-01A-11D-A32N-08 CEACAM7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321145.1 0 0 0 7 964 0 220 0 4.399394e-02 0 39 0 220 2 0 0 0 0 0 2 1 0.979803 8 952 0 218 2 0 0 0 0 220 2 -1.658660 0 1 121412 13 48 1 1 2 3 2.090229 0 0.100000 2.040000 0.126214 0.180000 0.060000 1.000000 0.150000 0.361485 0.180000 0 0.110000 1.000000 PSG6 5675 broad.mit.edu 37 19 43411250 43411250 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr19:43411250G>A ENST00000292125.2 - 5 1108 c.1064C>T c.(1063-1065)gCg>gTg p.A355V PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V NM_002782.4 NP_002773.1 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 44 Prostate(69;0.00899) GTTAGAGTCCGCAAAGCAGGA 0.448000 0 SO:0001583 missense ENST00000292125.2 0 1 hg19 CCDS12613.1 . . . . . . . . . . N 9.184 1.024244 0.19433 . . ENSG00000170848 ENST00000187910;ENST00000402603;ENST00000292125 T;T;T 0.14144 2.53;2.53;2.53 1.54 1.54 0.23209 Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.13500 0.0327 L 0.50847 1.595 0.09310 N 0.999998 B;B;B 0.34372 0.132;0.292;0.451 B;B;B 0.36244 0.184;0.22;0.185 T 0.20840 -1.0263 9 0.59425 D 0.04 . 6.5495 0.22425 0.0:0.0:1.0:0.0 . 355;355;262 Q00889;Q00889-2;B5MCE1 PSG6_HUMAN;.;. V 355;262;355 ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V ENSP00000187910:A355V A - 2 0 PSG6 48103090 0.001000 0.12720 0.002000 0.10522 0.014000 0.08584 0.729000 0.26028 0.854000 0.35336 0.134000 0.15878 GCG TCGA-IB-A5ST-01A-11D-A32N-08 PSG6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000321436.1 0 0 0 8 1175 0 273 0 0 0 0 273 2 0 0 0 0 0 2 1 0.988544 8 1154 0 269 2 0 0 0 0 273 2 -1.714379 0 1 121350 3 44 1 1 2 3 2.090229 0 0.100000 2.040000 0.126214 0.160000 0.060000 1.000000 0.130000 0.351793 0.160000 0 0.100000 1.000000 SASS6 163786 broad.mit.edu 37 1 100573235 100573235 + Missense_Mutation SNP T T G TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:100573235T>G ENST00000287482.5 - 10 1235 c.1095A>C c.(1093-1095)caA>caC p.Q365H SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) GCTTTCCTAGTTGTACTTGAT 0.249000 0 SO:0001583 missense ENST00000287482.5 0 1 hg19 CCDS764.1 . . . . . . . . . . T 13.48 2.250271 0.39797 . . ENSG00000156876 ENST00000287482;ENST00000539329;ENST00000535161 T;T 0.78595 -1.19;-1.19 5.86 -2.04 0.07343 . 0.097898 0.64402 D 0.000001 T 0.51363 0.1670 L 0.49350 1.555 0.39686 D 0.970979 B 0.25272 0.122 B 0.26094 0.066 T 0.37267 -0.9713 10 0.34782 T 0.22 -17.8258 8.944 0.35747 0.1162:0.4925:0.0:0.3913 . 365 Q6UVJ0 SAS6_HUMAN H 365;338;198 ENSP00000287482:Q365H;ENSP00000440169:Q198H ENSP00000287482:Q365H Q - 3 2 SASS6 100345823 0.975000 0.34042 0.975000 0.42487 0.990000 0.78478 0.142000 0.16096 -0.327000 0.08551 0.477000 0.44152 CAA TCGA-IB-A5ST-01A-11D-A32N-08 SASS6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029656.2 1 0 0 5 128 0 13 0 2.287582e-03 0 2 0 13 2 0 0 0 0 0 2 1 0.937519 6 126 0 12 2 0 0 0 0 13 2 -3.684047 1 1 0 0 1 1 2 3 2.024724 0 0.100000 2.040000 0.111988 0.900000 0.330000 1.000000 1.000000 0.815059 0.900000 1 0.550000 1.000000 DBT 1629 broad.mit.edu 37 1 100681577 100681577 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:100681577G>A ENST00000370132.4 - 6 747 c.734C>T c.(733-735)cCg>cTg p.P245L DBT_ENST00000370131.3_Missense_Mutation_p.P245L NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) TGTGAATACCGGAGGTTTTGA 0.388000 0 SO:0001583 missense ENST00000370132.4 0 1 hg19 CCDS767.1 . . . . . . . . . . g 3.697 -0.062301 0.07317 . . ENSG00000137992 ENST00000543138;ENST00000370132;ENST00000370131 T;T 0.34275 1.37;1.37 5.66 0.124 0.14714 Chloramphenicol acetyltransferase-like domain (1); 0.712173 0.14328 N 0.326549 T 0.05227 0.0139 N 0.14661 0.345 0.19945 N 0.999947 B;B 0.06786 0.001;0.001 B;B 0.08055 0.003;0.001 T 0.40534 -0.9558 10 0.16420 T 0.52 1.0E-4 4.1964 0.10445 0.5271:0.0:0.3072:0.1657 . 64;245 F5H1F9;P11182 .;ODB2_HUMAN L 64;245;245 ENSP00000359151:P245L;ENSP00000359150:P245L ENSP00000359150:P245L P - 2 0 DBT 100454165 0.017000 0.18338 0.003000 0.11579 0.011000 0.07611 0.567000 0.23608 0.358000 0.24211 -0.150000 0.13652 CCG TCGA-IB-A5ST-01A-11D-A32N-08 DBT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030101.2 0 0 0 5 643 0 110 0 2.661515e-02 0 26 0 110 2 0 0 0 0 0 2 1 0.934637 5 631 0 110 2 0 0 0 0 110 2 -2.005325 0 1 121412 4 40 1 1 2 3 2.024724 0 0.100000 2.040000 0.111988 0.190000 0.060000 1.000000 0.160000 0.338948 0.190000 0 0.110000 1.000000 CSF1 1435 broad.mit.edu 37 1 110458293 110458293 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:110458293T>C ENST00000329608.6 + 3 591 c.200T>C c.(199-201)tTt>tCt p.F67S CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) CAAATTACATTTGAGTTTGTA 0.502000 0 SO:0001583 missense ENST00000329608.6 1 1 hg19 CCDS816.1 . . . . . . . . . . T 11.27 1.589665 0.28357 2.27E-4 0.0 ENSG00000184371 ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801 T;T;T;T;T;T;T;T;T 0.11930 2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73 5.46 3.04 0.35103 Four-helical cytokine-like, core (1); 0.227455 0.37304 N 0.002156 T 0.15955 0.0384 M 0.66939 2.045 0.09310 N 1 D;D;D 0.71674 0.998;0.997;0.992 D;P;P 0.64042 0.921;0.886;0.634 T 0.05321 -1.0892 10 0.87932 D 0 . 8.5803 0.33623 0.2814:0.0:0.0:0.7186 . 67;67;67 P09603-3;P09603;P09603-2 .;CSF1_HUMAN;. S 74;26;67;67;67;26;67;67;67 ENSP00000434527:F74S;ENSP00000431547:F26S;ENSP00000349854:F67S;ENSP00000342718:F67S;ENSP00000327513:F67S;ENSP00000433837:F26S;ENSP00000358817:F67S;ENSP00000407317:F67S;ENSP00000358816:F67S ENSP00000327513:F67S F + 2 0 CSF1 110259816 1.000000 0.71417 0.068000 0.19968 0.003000 0.03518 1.209000 0.32357 0.400000 0.25396 0.459000 0.35465 TTT TCGA-IB-A5ST-01A-11D-A32N-08 CSF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032208.1 0 0 0 12 416 0 125 0 5.038684e-01 1 56 0 125 2 0 0 0 0 0 2 1 0.999065 12 410 0 124 2 0 0 0 0 125 2 -11.550550 1 1 121412 1 29 1 1 2 3 2.013362 0 0.100000 2.040000 0.109352 0.610000 0.320000 1.000000 0.560000 0.661407 0.610000 0 0.440000 1.000000 NUP210L 91181 broad.mit.edu 37 1 154072575 154072575 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:154072575C>T ENST00000368559.3 - 14 1935 c.1864G>A c.(1864-1866)Gca>Aca p.A622T NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GATTTAGCTGCGATATGTGTA 0.443000 0 SO:0001583 missense ENST00000368559.3 1 1 hg19 CCDS41399.1 . . . . . . . . . . C 4.853 0.158628 0.09236 . . ENSG00000143552 ENST00000368559;ENST00000271854 T;T 0.06218 3.6;3.33 5.15 2.21 0.28008 . 0.453697 0.20603 N 0.089102 T 0.01156 0.0038 L 0.28274 0.84 0.09310 N 1 B;B 0.14438 0.01;0.004 B;B 0.08055 0.003;0.002 T 0.47873 -0.9083 10 0.10902 T 0.67 -12.1311 8.7224 0.34449 0.0:0.7554:0.0:0.2446 . 622;622 E7EP56;Q5VU65 .;P210L_HUMAN T 622 ENSP00000357547:A622T;ENSP00000271854:A622T ENSP00000271854:A622T A - 1 0 NUP210L 152339199 0.001000 0.12720 0.255000 0.24374 0.110000 0.19582 0.689000 0.25437 0.547000 0.28938 0.462000 0.41574 GCA TCGA-IB-A5ST-01A-11D-A32N-08 NUP210L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087270.3 0 0 0 21 551 0 131 0 0 0 0 131 2 1 9.998789e-01 15 364 0 380 2 1 0.999997 21 543 0 130 2 0 0 0 0 131 2 -3.455460 1 1 120854 13 43 1 1 2 3 2.062082 0 0.100000 2.040000 0.120235 0.820000 0.490000 1.000000 1.000000 0.822380 0.820000 0 0.630000 1.000000 PIGR 5284 broad.mit.edu 37 1 207105858 207105858 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:207105858G>A ENST00000356495.4 - 8 2134 c.1951C>T c.(1951-1953)Ctg>Ttg p.L651L PIGR_ENST00000487208.1_5'Flank NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 45 CCCACTGCCAGCACCAGGCCC 0.637000 0 SO:0001819 synonymous_variant ENST00000356495.4 0 1 hg19 CCDS1474.1 TCGA-IB-A5ST-01A-11D-A32N-08 PIGR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088975.1 0 0 0 5 401 0 108 0 3.938701e-01 0 95 0 108 2 0 0 0 0 0 2 1 0.934588 5 393 0 105 2 0 0 0 0 108 2 -4.879670 1 1 0 0 1 1 2 3 2.068204 0 0.100000 2.040000 0.121523 0.320000 0.110000 1.000000 0.250000 0.466625 0.320000 0 0.190000 1.000000 SNAP47 116841 broad.mit.edu 37 1 227947156 227947156 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:227947156G>A ENST00000366759.4 + 3 1507 c.1093G>A c.(1093-1095)Gca>Aca p.A365T SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T|SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa p.A365T(1) 17 CTCTTCCCCCGCAGAGAAGAG 0.517000 1 Substitution - Missense(1) SO:0001583 missense ENST00000366759.4 0 1 hg19 CCDS1562.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 1|1 0.0013192612137203166|0.0013192612137203166 G|G 5.504|5.504 0.277926|0.277926 0.10403|0.10403 0.0|0.0 1.16E-4|1.16E-4 ENSG00000143740|ENSG00000143740 ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344 T;T;T|. 0.45668|. 0.89;2.2;2.18|. 5.04|5.04 1.08|1.08 0.20341|0.20341 .|. 0.734758|. 0.13883|. N|. 0.356219|. T|T 0.45438|0.45438 0.1342|0.1342 M|M 0.67953|0.67953 2.075|2.075 0.09310|0.09310 N|N 1|1 B;B;B;B;B|. 0.33379|. 0.001;0.196;0.41;0.41;0.196|. B;B;B;B;B|. 0.25140|. 0.005;0.008;0.058;0.049;0.011|. T|T 0.35724|0.35724 -0.9777|-0.9777 10|5 0.14656|. T|. 0.56|. -15.4879|-15.4879 7.4981|7.4981 0.27500|0.27500 0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0 .|. 123;365;177;365;123|. Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|. .;SNP47_HUMAN;.;.;.|. T|H 123;365;365|177;356 ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|. ENSP00000314157:A365T|. A|R +|+ 1|2 0|0 SNAP47|SNAP47 226013779|226013779 0.000000|0.000000 0.05858|0.05858 0.005000|0.005000 0.12908|0.12908 0.011000|0.011000 0.07611|0.07611 0.327000|0.327000 0.19663|0.19663 0.045000|0.045000 0.15804|0.15804 0.561000|0.561000 0.74099|0.74099 GCA|CGC TCGA-IB-A5ST-01A-11D-A32N-08 SNAP47-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091961.1 0 0 0 6 750 0 209 0 2.213118e-01 0 95 0 209 2 0 0 0 0 0 2 0 0.054446 6 745 1 208 14 0 0 0 0 209 2 -2.244694 0 1 121412 9 45 1 1 2 3 2.068204 0 0.100000 2.040000 0.121523 0.200000 0.070000 1.000000 0.160000 0.384385 0.200000 0 0.120000 1.000000 CAPN9 10753 broad.mit.edu 37 1 230928629 230928629 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:230928629G>A ENST00000271971.2 + 17 1938 c.1825G>A c.(1825-1827)Ggc>Agc p.G609S CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.G583S|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA NM_006615.2 NP_006606.1 O14815 CAN9_HUMAN calpain 9 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TGACAAGTCCGGCACCATGTC 0.512000 0 SO:0001583 missense ENST00000271971.2 1 1 hg19 CCDS1586.1 . . . . . . . . . . G 25.5 4.649288 0.87958 . . ENSG00000135773 ENST00000271971;ENST00000354537;ENST00000366666 D;D;D 0.85339 -1.97;-1.97;-1.97 5.49 4.57 0.56435 EF-hand-like domain (1); 0.000000 0.85682 D 0.000000 D 0.94138 0.8120 H 0.94886 3.595 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;0.999 D 0.95185 0.8303 10 0.66056 D 0.02 . 13.7944 0.63162 0.0746:0.0:0.9254:0.0 . 546;583;609 E7ESS6;O14815-2;O14815 .;.;CAN9_HUMAN S 609;583;546 ENSP00000271971:G609S;ENSP00000346538:G583S;ENSP00000355626:G546S ENSP00000271971:G609S G + 1 0 CAPN9 228995252 1.000000 0.71417 0.868000 0.34077 0.964000 0.63967 7.352000 0.79404 1.314000 0.45095 0.655000 0.94253 GGC TCGA-IB-A5ST-01A-11D-A32N-08 CAPN9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092179.1 0 0 0 28 729 0 170 0 3.586647e-02 0 8 0 170 2 0 0 0 0 0 2 1 1.000000 29 715 0 168 2 0 0 0 0 170 2 -2.698337 1 1 121412 1 35 1 1 2 3 2.068204 0 0.100000 2.040000 0.121523 0.820000 0.530000 1.000000 1.000000 0.826204 0.820000 0 0.650000 1.000000 OR2M5 127059 broad.mit.edu 37 1 248309150 248309150 + Missense_Mutation SNP G G A rs147580819 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:248309150G>A ENST00000366476.1 + 1 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGAGAGGGTCGTCGCAAAGCT 0.463000 0 SO:0001583 missense ENST00000366476.1 1 1 hg19 CCDS31105.1 . . . . . . . . . . g 9.703 1.154991 0.21371 2.27E-4 0.0 ENSG00000162727 ENST00000366476 T 0.00333 8.07 3.28 1.33 0.21861 GPCR, rhodopsin-like superfamily (1); 1.008340 0.08001 N 0.988776 T 0.00412 0.0013 M 0.83483 2.645 0.09310 N 1 B 0.15473 0.013 B 0.12837 0.008 T 0.42189 -0.9466 10 0.72032 D 0.01 . 8.818 0.35007 0.1975:0.0:0.8025:0.0 . 234 A3KFT3 OR2M5_HUMAN H 234 ENSP00000355432:R234H ENSP00000355432:R234H R + 2 0 OR2M5 246375773 0.000000 0.05858 0.000000 0.03702 0.702000 0.40608 0.556000 0.23438 0.062000 0.16340 -0.326000 0.08463 CGT TCGA-IB-A5ST-01A-11D-A32N-08 OR2M5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097343.1 0 0 0 27 1002 1 166 0 0 0 1 166 2 0 0 0 0 0 2 1 0.841795 28 996 1 165 21 0 0 0 1 166 2 -2.540902 1 1 121412 8 45 1 1 2 3 2.068204 0 0.100000 2.040000 0.121523 0.580000 0.370000 1.000000 0.530000 0.661018 0.580000 0 0.460000 1.000000 PHACTR4 65979 broad.mit.edu 37 1 28792265 28792265 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:28792265C>T ENST00000373839.3 + 5 602 c.341C>T c.(340-342)gCc>gTc p.A114V PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) ATAGGGAATGCCAGATCATCT 0.463000 0 SO:0001583 missense ENST00000373839.3 0 1 hg19 CCDS41293.1 . . . . . . . . . . C 4.838 0.155841 0.09236 . . ENSG00000204138 ENST00000373839;ENST00000373836;ENST00000373838 T;T 0.34275 1.37;1.37 5.03 4.1 0.47936 . 1.184050 0.06004 N 0.648230 T 0.29423 0.0733 L 0.27053 0.805 0.09310 N 1 B;B;B 0.10296 0.003;0.002;0.003 B;B;B 0.09377 0.004;0.002;0.003 T 0.19582 -1.0301 10 0.30854 T 0.27 0.1306 10.8568 0.46804 0.0:0.9105:0.0:0.0895 . 124;114;98 Q8IZ21-2;Q8IZ21;Q8IZ21-3 .;PHAR4_HUMAN;. V 114;124;113 ENSP00000362945:A114V;ENSP00000362942:A124V ENSP00000362942:A124V A + 2 0 PHACTR4 28664852 0.004000 0.15560 0.013000 0.15412 0.029000 0.11900 1.972000 0.40540 1.315000 0.45114 0.655000 0.94253 GCC TCGA-IB-A5ST-01A-11D-A32N-08 PHACTR4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000009868.4 0 0 0 5 423 0 92 0 9.135986e-02 0 35 0 92 2 0 0 0 0 0 2 1 0.936727 5 420 0 90 2 0 0 0 0 92 2 -2.522450 1 1 0 0 1 1 2 3 2.024928 0 0.100000 2.040000 0.111988 0.290000 0.100000 1.000000 0.230000 0.414192 0.290000 0 0.170000 1.000000 ABCA4 24 broad.mit.edu 37 1 94543309 94543309 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr1:94543309G>A ENST00000370225.3 - 11 1577 c.1491C>T c.(1489-1491)ttC>ttT p.F497F ABCA4_ENST00000535735.1_Silent_p.F497F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) CCCTCCAGTCGAAGTTGGCCA 0.537000 0 SO:0001819 synonymous_variant ENST00000370225.3 1 1 hg19 CCDS747.1 TCGA-IB-A5ST-01A-11D-A32N-08 ABCA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029320.1 0 0 0 18 637 0 177 0 0 0 0 177 2 0 0 0 0 0 2 1 0.999981 17 633 0 176 2 0 0 0 0 177 2 -2.825295 1 1 0 0 1 1 2 3 2.024724 0 0.100000 2.040000 0.111988 0.600000 0.350000 1.000000 0.560000 0.658548 0.600000 0 0.460000 1.000000 SLC32A1 140679 broad.mit.edu 37 20 37356192 37356192 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr20:37356192G>A ENST00000217420.1 + 2 751 c.488G>A c.(487-489)gGc>gAc p.G163D NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCTACACCGGCAAGATCCTC 0.637000 0 SO:0001583 missense ENST00000217420.1 0 1 hg19 CCDS13307.1 . . . . . . . . . . G 21.8 4.208888 0.79240 . . ENSG00000101438 ENST00000217420 T 0.02345 4.33 4.43 4.43 0.53597 . 0.000000 0.85682 D 0.000000 T 0.14960 0.0361 M 0.81112 2.525 0.80722 D 1 D 0.67145 0.996 D 0.72075 0.976 T 0.00406 -1.1759 10 0.51188 T 0.08 -22.1911 14.5807 0.68288 0.0:0.0:1.0:0.0 . 163 Q9H598 VIAAT_HUMAN D 163 ENSP00000217420:G163D ENSP00000217420:G163D G + 2 0 SLC32A1 36789606 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.631000 0.98424 2.317000 0.78254 0.563000 0.77884 GGC TCGA-IB-A5ST-01A-11D-A32N-08 SLC32A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079206.1 0 0 0 5 405 1 108 0 0 0 1 108 2 0 0 0 0 0 2 0 0.025384 5 392 1 107 14 0 0 0 1 108 2 -2.798540 1 1 0 0 1 1 2 3 2.034055 0 0.100000 2.040000 0.114173 0.310000 0.100000 1.000000 0.240000 0.439205 0.310000 0 0.180000 1.000000 STK11IP 114790 broad.mit.edu 37 2 220479983 220479983 + Nonsense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:220479983C>T ENST00000456909.1 + 24 3127 c.3037C>T c.(3037-3039)Cag>Tag p.Q1013* STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024* Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 23 Renal(207;0.0183) TGTCAGGGAGCAGCAGCCACT 0.647000 0 SO:0001587 stop_gained ENST00000456909.1 0 1 hg19 . . . . . . . . . . C 16.41 3.116420 0.56505 . . ENSG00000144589 ENST00000456909;ENST00000295641 . . . 4.53 4.53 0.55603 . 0.160319 0.38959 N 0.001506 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.22706 T 0.39 -14.4814 12.6615 0.56815 0.0:1.0:0.0:0.0 . . . . X 1013;1024 . ENSP00000295641:Q1024X Q + 1 0 STK11IP 220188227 1.000000 0.71417 1.000000 0.80357 0.610000 0.37248 1.799000 0.38824 2.363000 0.80096 0.561000 0.74099 CAG TCGA-IB-A5ST-01A-11D-A32N-08 STK11IP-001 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000131432.1 0 0 0 4 69 0 25 0 8.176645e-01 0 56 0 25 2 0 0 0 0 0 2 0 0.878570 1 68 0 24 2 0 0 0 0 25 2 -8.735047 1 0 0 0 1 1 2 3 2.017676 0 0.100000 2.040000 0.110232 0.990000 0.420000 1.000000 1.000000 0.911306 0.990000 1 0.740000 1.000000 C2orf16 84226 broad.mit.edu 37 2 27804824 27804824 + Missense_Mutation SNP G G C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr2:27804824G>C ENST00000408964.2 + 1 5436 c.5385G>C c.(5383-5385)gaG>gaC p.E1795D ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 47 Acute lymphoblastic leukemia(172;0.155) GTCCCTCTGAGAGAAGCCATC 0.547000 0 SO:0001583 missense ENST00000408964.2 1 1 hg19 CCDS42666.1 . . . . . . . . . . g 10.19 1.281825 0.23392 . . ENSG00000221843 ENST00000408964 T 0.05786 3.39 3.95 1.17 0.20885 . . . . . T 0.07369 0.0186 L 0.53249 1.67 0.09310 N 1 P 0.38300 0.626 B 0.36504 0.226 T 0.24297 -1.0164 9 0.52906 T 0.07 . 7.9068 0.29767 0.2806:0.0:0.7194:0.0 . 1795 Q68DN1 CB016_HUMAN D 1795 ENSP00000386190:E1795D ENSP00000386190:E1795D E + 3 2 C2orf16 27658328 0.001000 0.12720 0.001000 0.08648 0.004000 0.04260 0.437000 0.21543 0.251000 0.21505 0.407000 0.27541 GAG TCGA-IB-A5ST-01A-11D-A32N-08 C2orf16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353292.1 0 0 0 27 836 0 186 0 0 0 1 0 186 2 0 0 0 0 0 2 1 1.000000 27 812 0 184 2 0 0 0 0 186 2 -2.589719 1 1 0 0 1 0 0 0 1.971007 0 0.100000 2.040000 0.082569 0.610000 0.410000 0.850000 0.600000 0.626812 0.610000 0 0.500000 0.740000 RBM15B 29890 broad.mit.edu 37 3 51430415 51430415 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr3:51430415C>T ENST00000323686.4 + 1 1685 c.1585C>T c.(1585-1587)Cgg>Tgg p.R529W NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 12 CGACCTGGTGCGGGACAGGAC 0.612000 0 SO:0001583 missense ENST00000323686.4 0 1 hg19 CCDS33764.1 . . . . . . . . . . C 15.48 2.846050 0.51164 . . ENSG00000179837 ENST00000323686;ENST00000541145 T 0.18174 2.23 5.55 4.67 0.58626 . . . . . T 0.37348 0.1000 L 0.57536 1.79 0.50313 D 0.999868 D 0.89917 1.0 D 0.77004 0.989 T 0.14924 -1.0455 9 0.87932 D 0 -16.0835 13.3329 0.60500 0.4055:0.5945:0.0:0.0 . 529 Q8NDT2 RB15B_HUMAN W 529;202 ENSP00000313890:R529W ENSP00000313890:R529W R + 1 2 RBM15B 51405455 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 0.873000 0.28052 1.329000 0.45376 0.655000 0.94253 CGG TCGA-IB-A5ST-01A-11D-A32N-08 RBM15B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346489.1 0 0 0 5 462 0 133 0 5.208244e-01 0 145 0 133 2 0 0 0 0 0 2 1 0.934243 5 452 0 131 2 0 0 0 0 133 2 -2.733920 1 1 0 0 1 0 0 0 1.960797 0 0.100000 2.040000 0.077869 0.220000 0.080000 0.450000 0.200000 0.243404 0.220000 0 0.140000 0.330000 H2AFZ 3015 broad.mit.edu 37 4 100870830 100870830 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:100870830G>A ENST00000296417.5 - 2 288 c.71C>T c.(70-72)gCc>gTc p.A24V RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA NM_002106.3 NP_002097.1 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 5 CTGCAAGCCGGCTCTCTGCGA 0.567000 0 SO:0001583 missense ENST00000296417.5 0 1 hg19 CCDS3654.1 . . . . . . . . . . G 33 5.224399 0.95139 . . ENSG00000164032 ENST00000296417 D 0.87256 -2.23 3.33 3.33 0.38152 Histone-fold (2);Histone core (1);Histone H2A (3); 0.103484 0.64402 N 0.000003 D 0.96056 0.8715 H 0.99435 4.565 0.80722 D 1 D 0.69078 0.997 D 0.64144 0.922 D 0.97952 1.0332 10 0.87932 D 0 -4.0732 14.8277 0.70125 0.0:0.0:1.0:0.0 . 24 P0C0S5 H2AZ_HUMAN V 24 ENSP00000296417:A24V ENSP00000296417:A24V A - 2 0 H2AFZ 101089853 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 8.355000 0.90083 1.697000 0.51169 0.455000 0.32223 GCC TCGA-IB-A5ST-01A-11D-A32N-08 H2AFZ-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000253695.1 0 0 0 6 744 0 173 1 9.839036e-01 2 943 0 173 2 0 0 0 0 0 2 1 0.963424 6 733 0 172 2 0 0 0 0 173 2 -2.035847 0 1 0 0 1 1 2 3 1.998437 0 0.100000 2.040000 0.106256 0.180000 0.070000 1.000000 0.160000 0.276290 0.180000 0 0.110000 0.310000 SLC34A2 10568 broad.mit.edu 37 4 25674740 25674740 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr4:25674740G>A ENST00000382051.3 + 10 1130 c.1080G>A c.(1078-1080)ccG>ccA p.P360P SLC34A2_ENST00000503434.1_Silent_p.P359P|SLC34A2_ENST00000504570.1_Silent_p.P359P NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 SLC34A2/ROS1(14) 41 Breast(46;0.0503) TCCACCTCCCGGATCTTGCTG 0.512000 T ROS1 NSCLC Dom yes 4 4p15.2 10568 solute carrier family 34 (sodium phosphate), member 2 E 0 SO:0001819 synonymous_variant ENST00000382051.3 1 1 hg19 CCDS3435.1 TCGA-IB-A5ST-01A-11D-A32N-08 SLC34A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214990.1 0 0 0 18 562 0 144 0 0 0 0 144 2 0 0 0 0 0 2 1 0.999981 19 556 0 143 2 0 0 0 0 144 2 -2.514101 1 1 121412 5 41 1 1 2 3 2.016602 0 0.100000 2.040000 0.110232 0.670000 0.390000 1.000000 0.620000 0.709165 0.670000 0 0.510000 1.000000 SLCO4C1 353189 broad.mit.edu 37 5 101576467 101576467 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:101576467G>A ENST00000310954.6 - 11 2117 c.1831C>T c.(1831-1833)Cgg>Tgg p.R611W NM_180991.4 NP_851322.3 solute carrier organic anion transporter family, member 4C1 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) GCTAGGGACCGTTGTCTGTGA 0.338000 0 SO:0001583 missense ENST00000310954.6 0 1 hg19 CCDS34205.1 . . . . . . . . . . G 16.94 3.261188 0.59431 0.0 1.16E-4 ENSG00000173930 ENST00000310954 T 0.50548 0.74 5.96 5.96 0.96718 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.64402 D 0.000013 T 0.76026 0.3930 M 0.93898 3.47 0.32241 N 0.57269 D 0.89917 1.0 D 0.91635 0.999 D 0.84319 0.0515 10 0.87932 D 0 . 13.8945 0.63764 0.0:0.0:0.8477:0.1523 . 611 Q6ZQN7 SO4C1_HUMAN W 611 ENSP00000309741:R611W ENSP00000309741:R611W R - 1 2 SLCO4C1 101604366 0.980000 0.34600 0.263000 0.24496 0.635000 0.38103 3.947000 0.56652 2.832000 0.97577 0.655000 0.94253 CGG TCGA-IB-A5ST-01A-11D-A32N-08 SLCO4C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000370332.1 0 0 0 11 630 0 57 0 0 0 0 57 2 0 0 0 0 0 2 1 0.998261 10 626 0 57 2 0 0 0 0 57 2 -2.353780 0 1 121402 7 42 1 0 1 1 1.992074 0 0.100000 2.040000 0.093199 0.340000 0.180000 0.570000 0.330000 0.364837 0.340000 0 0.250000 0.460000 AQPEP 0 broad.mit.edu 37 5 115351411 115351411 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:115351411G>A ENST00000357872.4 + 18 2829 c.2705G>A c.(2704-2706)cGg>cAg p.R902Q AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN GAAGTTGGCCGGTATGTCGCA 0.408000 0 SO:0001583 missense ENST00000357872.4 0 1 hg19 CCDS4124.1 . . . . . . . . . . G 12.30 1.896123 0.33442 2.27E-4 3.49E-4 ENSG00000172901 ENST00000357872;ENST00000379578 T 0.07908 3.15 5.6 0.743 0.18347 . 0.296928 0.24198 N 0.040657 T 0.05318 0.0141 N 0.17594 0.5 0.09310 N 1 D 0.61697 0.99 P 0.51550 0.673 T 0.19192 -1.0313 10 0.05833 T 0.94 . 4.4203 0.11477 0.3159:0.0:0.5388:0.1453 . 902 Q6Q4G3 AMPQ_HUMAN Q 902;891 ENSP00000350541:R902Q ENSP00000350541:R902Q R + 2 0 AC010282.1 115379310 0.005000 0.15991 0.032000 0.17829 0.747000 0.42532 0.827000 0.27421 -0.148000 0.11234 -0.471000 0.05019 CGG TCGA-IB-A5ST-01A-11D-A32N-08 AQPEP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250852.1 0 0 0 4 215 0 42 0 0 0 1 0 42 2 0 0 0 0 0 2 1 0.889005 4 213 0 42 2 0 0 0 0 42 2 -2.772747 1 1 121412 16 42 1 0 1 1 1.992074 0 0.100000 2.040000 0.093199 0.390000 0.130000 0.830000 0.360000 0.428331 0.390000 0 0.240000 0.600000 DIAPH1 1729 broad.mit.edu 37 5 140908384 140908384 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:140908384C>T ENST00000398557.4 - 22 3043 c.2903G>A c.(2902-2904)cGt>cAt p.R968H DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R969H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H NM_005219.4 NP_005210.3 O60610 DIAP1_HUMAN diaphanous-related formin 1 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACTCTTACGTAACTCCTC 0.448000 0 SO:0001583 missense ENST00000398557.4 0 1 hg19 CCDS43374.1 . . . . . . . . . . C 12.18 1.859456 0.32884 . . ENSG00000131504 ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047 T;T;T;T;T;T;T;T 0.20463 2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07 5.27 4.4 0.53042 Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3); 0.224000 0.36815 N 0.002392 T 0.21550 0.0519 M 0.66439 2.03 0.53688 D 0.999978 B;B;B 0.28971 0.229;0.145;0.145 B;B;B 0.18561 0.022;0.022;0.022 T 0.04440 -1.0951 10 0.87932 D 0 . 9.2173 0.37355 0.0:0.8317:0.0:0.1683 . 911;959;968 E7ERW8;E9PEZ2;O60610 .;.;DIAP1_HUMAN H 965;911;944;959;960;968;969;956 ENSP00000373706:R965H;ENSP00000429282:R911H;ENSP00000381570:R944H;ENSP00000373709:R959H;ENSP00000381572:R960H;ENSP00000381565:R968H;ENSP00000253811:R969H;ENSP00000428268:R956H ENSP00000253811:R969H R - 2 0 DIAPH1 140888568 0.432000 0.25554 0.794000 0.32065 0.295000 0.27426 1.344000 0.33941 1.209000 0.43321 -0.259000 0.10710 CGT TCGA-IB-A5ST-01A-11D-A32N-08 DIAPH1-203 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding 0 0 1 5 311 0 68 1 7.398675e-01 20 139 0 68 2 0 0 0 0 0 2 1 0.937503 5 310 0 67 2 0 0 0 0 68 2 -3.055023 1 1 121004 2 33 1 0 1 1 1.992074 0 0.100000 2.040000 0.093199 0.330000 0.120000 0.670000 0.300000 0.362977 0.330000 0 0.210000 0.500000 ANKRD55 79722 broad.mit.edu 37 5 55472007 55472007 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:55472007C>T ENST00000341048.4 - 4 435 c.284G>A c.(283-285)cGc>cAc p.R95H ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TAAACTTGTGCGGCCATAAGC 0.542000 0 SO:0001583 missense ENST00000341048.4 0 1 hg19 CCDS34161.1 . . . . . . . . . . C 35 5.426908 0.96131 . . ENSG00000164512 ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586 T;T;T 0.66460 -0.21;-0.21;-0.21 5.31 5.31 0.75309 . 0.000000 0.85682 D 0.000000 T 0.77837 0.4190 L 0.47190 1.495 0.54753 D 0.999988 D 0.89917 1.0 D 0.91635 0.999 T 0.76607 -0.2897 10 0.41790 T 0.15 . 18.5715 0.91137 0.0:1.0:0.0:0.0 . 95 B3KVT8 . H 95;95;95;66;95 ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H ENSP00000342295:R95H R - 2 0 ANKRD55 55507764 1.000000 0.71417 0.999000 0.59377 0.979000 0.70002 6.485000 0.73625 2.462000 0.83206 0.563000 0.77884 CGC TCGA-IB-A5ST-01A-11D-A32N-08 ANKRD55-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368510.4 0 0 0 5 576 1 124 0 0 0 1 124 2 0 0 0 0 0 2 0 0.007354 5 570 1 122 17 0 0 0 1 124 2 -1.684063 0 1 121412 14 46 1 1 2 3 2.018291 0 0.100000 2.040000 0.110672 0.210000 0.070000 1.000000 0.180000 0.343860 0.210000 0 0.120000 1.000000 OTP 23440 broad.mit.edu 37 5 76932865 76932865 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:76932865G>A ENST00000306422.3 - 2 1366 c.228C>T c.(226-228)agC>agT p.S76S OTP_ENST00000515716.1_5'Flank NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) GGTCTTTGGCGCTCACCGCCA 0.711000 0 SO:0001819 synonymous_variant ENST00000306422.3 1 1 hg19 CCDS4039.1 TCGA-IB-A5ST-01A-11D-A32N-08 OTP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000220016.2 0 0 0 8 264 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.988500 9 256 0 86 2 0 0 0 0 88 2 -9.014540 1 1 0 0 1 0 1 1 1.992074 0 0.100000 2.040000 0.093199 0.600000 0.280000 1.000000 1.000000 0.622886 0.600000 0 0.420000 0.820000 ANKRD34B 340120 broad.mit.edu 37 5 79855633 79855633 + Missense_Mutation SNP T T C TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:79855633T>C ENST00000338682.3 - 5 878 c.206A>G c.(205-207)tAc>tGc p.Y69C NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) CTCTAACAGGTATTTCACCAT 0.448000 0 SO:0001583 missense ENST00000338682.3 1 1 hg19 CCDS34194.1 . . . . . . . . . . T 20.9 4.063229 0.76187 . . ENSG00000189127 ENST00000338682 T 0.65916 -0.18 5.78 5.78 0.91487 Ankyrin repeat-containing domain (4); 0.081459 0.50627 U 0.000101 T 0.72382 0.3453 L 0.41027 1.25 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.74948 -0.3490 10 0.72032 D 0.01 -14.1729 14.9417 0.70997 0.0:0.0:0.0:1.0 . 69 A5PLL1 AN34B_HUMAN C 69 ENSP00000339802:Y69C ENSP00000339802:Y69C Y - 2 0 ANKRD34B 79891389 1.000000 0.71417 0.998000 0.56505 0.967000 0.64934 7.900000 0.87376 2.201000 0.70794 0.459000 0.35465 TAC TCGA-IB-A5ST-01A-11D-A32N-08 ANKRD34B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369475.1 0 0 0 20 766 1 175 0 0 0 1 175 2 0 0 0 0 0 2 1 0.789149 19 758 1 175 16 0 0 0 1 175 2 -3.099789 1 1 0 0 1 0 1 1 1.992074 0 0.100000 2.040000 0.093199 0.500000 0.310000 0.740000 0.500000 0.522447 0.500000 0 0.400000 0.630000 TAS2R1 50834 broad.mit.edu 37 5 9629467 9629467 + Silent SNP C C T rs140696180 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr5:9629467C>T ENST00000382492.2 - 1 996 c.678G>A c.(676-678)gcG>gcA p.A226A CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 39 TAGACAGCAACGCGCTGATGG 0.498000 0 SO:0001819 synonymous_variant ENST00000382492.2 0 1 hg19 CCDS3876.1 TCGA-IB-A5ST-01A-11D-A32N-08 TAS2R1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206988.2 0 0 0 8 299 0 44 0 0 0 0 44 2 0 0 0 0 0 2 1 0.989332 8 297 0 42 2 0 0 0 0 44 2 -8.646002 1 0 121412 6 40 1 1 2 3 2.018291 0 0.100000 2.040000 0.110672 0.600000 0.260000 1.000000 1.000000 0.646273 0.600000 0 0.400000 1.000000 MAP7 9053 broad.mit.edu 37 6 136742933 136742933 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:136742933G>A ENST00000354570.3 - 2 482 c.72C>T c.(70-72)ccC>ccT p.P24P MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000544465.1_Silent_p.P9P NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 33 Colorectal(23;0.24) TGTAGCTGTCGGGTGCTACAG 0.373000 0 SO:0001819 synonymous_variant ENST00000354570.3 0 1 hg19 CCDS5178.1 TCGA-IB-A5ST-01A-11D-A32N-08 MAP7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042382.2 0 0 0 6 386 1 86 0 7.789148e-03 0 21 1 86 3 0 0 0 0 0 2 0 0.022908 6 381 1 85 16 0 0 0 1 86 2 -2.334696 0 1 0 0 1 1 2 3 2.016431 0 0.100000 2.040000 0.110232 0.360000 0.140000 1.000000 0.310000 0.461445 0.360000 0 0.230000 1.000000 ARID1B 57492 broad.mit.edu 37 6 157528497 157528497 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:157528497G>A ENST00000350026.5 + 19 6184 c.6183G>A c.(6181-6183)tcG>tcA p.S2061S ARID1B_ENST00000275248.4_Silent_p.S2056S|ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000346085.5_Silent_p.S2074S NM_017519.2 NP_059989.2 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 81 Breast(66;0.000162)|Ovarian(120;0.0265) GACCCAACTCGGTCCTGTCGC 0.532000 0 SO:0001819 synonymous_variant ENST00000350026.5 1 1 hg19 CCDS5251.2 TCGA-IB-A5ST-01A-11D-A32N-08 ARID1B-009 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000372723.1 0 0 1 40 995 0 282 1 8.928402e-01 15 83 0 282 2 0 0 0 0 0 2 1 1.000000 39 980 0 276 2 0 0 0 0 282 2 -2.479587 0 1 121412 5 42 1 1 2 3 2.016431 0 0.100000 2.040000 0.110232 0.810000 0.570000 1.000000 1.000000 0.825805 0.810000 0 0.680000 1.000000 TNXB 7148 broad.mit.edu 37 6 32064921 32064921 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:32064921C>T ENST00000479795.1 - 3 849 c.709G>A c.(709-711)Gca>Aca p.A237T TNXB_ENST00000375247.2_Missense_Mutation_p.A237T|TNXB_ENST00000375244.3_Missense_Mutation_p.A237T P22105 TENX_HUMAN tenascin XB 8 GAGAAGCCTGCCCGGCACACA 0.701000 0 SO:0001583 missense ENST00000479795.1 0 1 hg19 . . . . . . . . . . C 0.442 -0.898065 0.02472 . . ENSG00000168477 ENST00000375244;ENST00000375247;ENST00000479795 T;T;T 0.11277 3.88;3.88;2.79 4.22 0.161 0.14977 . 0.689881 0.12572 N 0.457242 T 0.02047 0.0064 L 0.31294 0.92 0.09310 N 1 B 0.28419 0.211 B 0.26094 0.066 T 0.44528 -0.9322 10 0.44086 T 0.13 . 4.2281 0.10590 0.154:0.3014:0.452:0.0926 . 237 P22105-3 . T 237 ENSP00000364393:A237T;ENSP00000364396:A237T;ENSP00000418248:A237T ENSP00000364393:A237T A - 1 0 TNXB 32172899 0.000000 0.05858 0.002000 0.10522 0.013000 0.08279 -0.163000 0.09997 -0.190000 0.10465 0.655000 0.94253 GCA TCGA-IB-A5ST-01A-11D-A32N-08 TNXB-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000357059.1 0 0 0 4 85 0 16 0 9.135970e-02 0 9 0 16 2 0 0 0 0 0 2 1 0.889324 4 84 0 16 2 0 0 0 0 16 2 -3.381323 1 1 120824 1 20 1 0 1 1 1.992253 0 0.100000 2.040000 0.093656 0.900000 0.320000 1.000000 1.000000 0.819564 0.900000 1 0.560000 1.000000 LGSN 51557 broad.mit.edu 37 6 63990012 63990012 + Nonsense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr6:63990012G>A ENST00000370657.4 - 4 1477 c.1444C>T c.(1444-1446)Cga>Tga p.R482* LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 34 ACAAAATATCGAATAAAGGTT 0.378000 0 SO:0001587 stop_gained ENST00000370657.4 0 1 hg19 CCDS4964.1 . . . . . . . . . . G 17.37 3.373680 0.61624 . . ENSG00000146166 ENST00000370657 . . . 5.7 3.86 0.44501 . 0.362303 0.32884 N 0.005523 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.06099 T 0.92 -5.5437 14.1084 0.65107 0.0:0.0:0.6109:0.3891 . . . . X 482 . ENSP00000359691:R482X R - 1 2 LGSN 64047971 1.000000 0.71417 0.856000 0.33681 0.358000 0.29455 4.385000 0.59613 0.703000 0.31848 0.655000 0.94253 CGA TCGA-IB-A5ST-01A-11D-A32N-08 LGSN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041076.2 0 0 0 11 372 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 0.998292 11 368 0 69 2 0 0 0 0 69 2 -2.908631 1 1 121412 3 40 1 1 2 3 2.016431 0 0.100000 2.040000 0.110232 0.640000 0.320000 1.000000 1.000000 0.679925 0.640000 0 0.450000 1.000000 HECW1 23072 broad.mit.edu 37 7 43484703 43484703 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr7:43484703G>A ENST00000395891.2 + 11 2537 c.1932G>A c.(1930-1932)gcG>gcA p.A644A HECW1_ENST00000453890.1_Silent_p.A644A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 125 CCAATGGCGCGGCCCAGGATG 0.711000 0 SO:0001819 synonymous_variant ENST00000395891.2 1 1 hg19 CCDS5469.2 TCGA-IB-A5ST-01A-11D-A32N-08 HECW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250893.2 0 0 0 6 160 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 0.965187 6 159 0 34 2 0 0 0 0 37 2 -8.782163 1 1 0 0 1 1 2 3 2.008968 0 0.100000 2.040000 0.108470 0.820000 0.330000 1.000000 1.000000 0.787144 0.820000 0 0.530000 1.000000 ANK1 286 broad.mit.edu 37 8 41519413 41519413 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr8:41519413G>A ENST00000347528.4 - 41 5608 c.5525C>T c.(5524-5526)gCc>gTc p.A1842V ANK1_ENST00000396945.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V NM_020475.2|NM_020476.2|NM_020477.2 NP_065208.2|NP_065209.2|NP_065210.2 P16157 ANK1_HUMAN ankyrin 1, erythrocytic 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCTGGGCGGCATCGGCGCT 0.572000 0 SO:0001583 missense ENST00000347528.4 0 1 hg19 CCDS6119.1 . . . . . . . . . . G 9.965 1.223834 0.22457 . . ENSG00000029534 ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709 T;T;T;D;D;D;T 0.86432 -0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23 5.94 2.12 0.27331 . 0.199600 0.40144 N 0.001173 T 0.81645 0.4866 L 0.42245 1.32 0.53005 D 0.99996 P;B;B;B;B;B;B;P;P 0.39940 0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696 B;B;B;B;B;B;B;B;B 0.41946 0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173 T 0.76465 -0.2949 10 0.42905 T 0.14 . 8.182 0.31315 0.0:0.0672:0.2624:0.6704 . 117;1883;1680;1842;1842;1842;996;117;117 Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7 .;.;.;ANK1_HUMAN;.;.;.;.;. V 1842;1842;1842;117;117;117;1883 ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V ENSP00000265709:A1883V A - 2 0 ANK1 41638570 0.851000 0.29673 0.459000 0.27081 0.000000 0.00434 0.325000 0.19628 0.502000 0.28037 -0.397000 0.06425 GCC TCGA-IB-A5ST-01A-11D-A32N-08 ANK1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000317297.1 0 0 0 6 405 0 119 0 4.636260e-03 0 6 0 119 2 0 0 0 0 0 2 1 0.963340 5 399 0 117 2 0 0 0 0 119 2 -2.810154 1 1 0 0 1 1 2 3 2.008365 0 0.100000 2.040000 0.108470 0.340000 0.130000 1.000000 0.290000 0.432034 0.340000 0 0.210000 0.650000 ADAMTS13 11093 broad.mit.edu 37 9 136310876 136310876 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:136310876G>A ENST00000371929.3 + 21 3111 c.2667G>A c.(2665-2667)acG>acA p.T889T ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 36 GCATCAGGACGGGGGCTCAAG 0.677000 0 SO:0001819 synonymous_variant ENST00000371929.3 0 1 hg19 CCDS6970.1 TCGA-IB-A5ST-01A-11D-A32N-08 ADAMTS13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054920.1 0 0 0 6 277 0 84 0 2.018008e-03 0 3 0 84 2 0 0 0 0 0 2 1 0.963859 6 273 0 84 2 0 0 0 0 84 2 -3.318474 1 1 121364 1 28 1 0 0 0 1.974317 0 0.100000 2.040000 0.084435 0.430000 0.180000 0.820000 0.400000 0.463886 0.430000 0 0.290000 0.630000 PRUNE2 158471 broad.mit.edu 37 9 79320990 79320990 + Missense_Mutation SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:79320990G>A ENST00000376718.3 - 8 6323 c.6200C>T c.(6199-6201)gCg>gTg p.A2067V PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1708V NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 16 CAAGTCAGGCGCGGCAGAGGC 0.512000 0 SO:0001583 missense ENST00000376718.3 0 1 hg19 CCDS47982.1 . . . . . . . . . . G 2.507 -0.313854 0.05422 0.0 1.4E-4 ENSG00000106772 ENST00000376718;ENST00000428286;ENST00000422033 T;T 0.42131 0.98;0.98 6.03 3.94 0.45596 . 0.708846 0.12837 N 0.435169 T 0.20577 0.0495 N 0.14661 0.345 0.09310 N 1 B 0.15930 0.015 B 0.09377 0.004 T 0.27606 -1.0069 10 0.05959 T 0.93 -5.9616 6.8158 0.23829 0.0987:0.0:0.5223:0.379 . 2067 Q8WUY3 PRUN2_HUMAN V 2067;1708;2066 ENSP00000365908:A2067V;ENSP00000397425:A1708V ENSP00000365908:A2067V A - 2 0 PRUNE2 78510810 0.011000 0.17503 0.005000 0.12908 0.012000 0.07955 1.895000 0.39778 1.500000 0.48636 0.655000 0.94253 GCG TCGA-IB-A5ST-01A-11D-A32N-08 PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 0 0 0 7 628 1 147 0 1.040939e-03 0 4 1 147 2 0 0 0 0 0 2 1 0.980019 7 622 0 147 2 0 0 0 1 147 2 -3.073847 1 1 120416 3 42 1 0 0 0 1.974317 0 0.100000 2.040000 0.084435 0.220000 0.090000 0.420000 0.210000 0.242698 0.220000 0 0.150000 0.320000 HABP4 22927 broad.mit.edu 37 9 99227683 99227683 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chr9:99227683C>T ENST00000375249.4 + 3 652 c.577C>T c.(577-579)Cgc>Tgc p.R193C HABP4_ENST00000375251.3_Intron NM_014282.2 NP_055097.2 hyaluronan binding protein 4 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AGGGGGTATGCGCGGCAGAGG 0.483000 0 SO:0001583 missense ENST00000375249.4 0 1 hg19 CCDS6719.1 . . . . . . . . . . C 15.45 2.837388 0.50951 . . ENSG00000130956 ENST00000375249 T 0.37752 1.18 4.86 2.77 0.32553 . 0.269438 0.30538 N 0.009418 T 0.42381 0.1200 L 0.43923 1.385 0.49213 D 0.999769 D 0.71674 0.998 P 0.53185 0.72 T 0.40515 -0.9559 10 0.72032 D 0.01 -7.7391 14.0166 0.64527 0.4686:0.5314:0.0:0.0 . 193 Q5JVS0 HABP4_HUMAN C 193 ENSP00000364398:R193C ENSP00000364398:R193C R + 1 0 HABP4 98267504 1.000000 0.71417 0.350000 0.25708 0.389000 0.30415 1.202000 0.32271 0.558000 0.29135 0.644000 0.83932 CGC TCGA-IB-A5ST-01A-11D-A32N-08 HABP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053269.1 0 0 0 8 533 1 122 0 2.645105e-02 0 89 1 122 5 0 0 0 0 0 2 0 0.006463 7 526 2 120 22 0 0 0 1 122 2 -1.649369 0 1 121412 3 38 1 0 0 0 1.974317 0 0.100000 2.040000 0.084435 0.300000 0.140000 0.530000 0.280000 0.319337 0.300000 0 0.210000 0.420000 CXorf57 55086 broad.mit.edu 37 X 105855530 105855530 + Missense_Mutation SNP G G A rs146201497 TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:105855530G>A ENST00000372548.4 + 1 329 c.220G>A c.(220-222)Gtc>Atc p.V74I CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 31 TGTGCTGGCCGTCCAGAGGTA 0.567000 0 SO:0001583 missense ENST00000372548.4 0 1 hg19 CCDS14519.1 . . . . . . . . . . G 13.05 2.122698 0.37436 . . ENSG00000147231 ENST00000372544;ENST00000372548 T;T 0.80304 -1.36;-1.36 3.47 1.69 0.24217 Nucleic acid-binding, OB-fold-like (1); 0.292022 0.28338 N 0.015703 T 0.70518 0.3233 M 0.64997 1.995 0.26035 N 0.981682 P;P;B 0.36125 0.538;0.538;0.366 B;B;B 0.29942 0.109;0.109;0.035 T 0.58446 -0.7635 10 0.30078 T 0.28 -2.4941 7.0559 0.25099 0.233:0.0:0.767:0.0 . 74;74;74 A8K6R5;Q6NSI4;Q6NSI4-2 .;CX057_HUMAN;. I 74 ENSP00000361623:V74I;ENSP00000361628:V74I ENSP00000361623:V74I V + 1 0 CXorf57 105742186 0.338000 0.24775 0.468000 0.27192 0.810000 0.45777 0.505000 0.22642 0.314000 0.23086 0.600000 0.82982 GTC TCGA-IB-A5ST-01A-11D-A32N-08 CXorf57-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057800.2 0 0 0 6 529 0 105 0 5.750309e-04 0 3 0 105 2 0 0 0 0 0 2 1 0.964328 7 524 0 105 2 0 0 0 0 105 2 -2.875267 1 1 121410 1 40 1 0 1 1 0.100000 2.040000 0.100000 0.230000 0.090000 0.460000 0.220000 0.256315 0.230000 0 0.150000 0.350000 CXorf56 63932 broad.mit.edu 37 X 118699217 118699217 + Silent SNP G G A TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:118699217G>A ENST00000371594.4 - 1 180 c.102C>T c.(100-102)tgC>tgT p.C34C CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C NM_022101.3 NP_071384.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 10 CCATCTGGCCGCACAAACAGT 0.577000 0 SO:0001819 synonymous_variant ENST00000371594.4 0 1 hg19 CCDS14579.1 TCGA-IB-A5ST-01A-11D-A32N-08 CXorf56-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 0 0 0 5 581 0 138 0 8.869372e-02 1 46 0 138 2 0 0 0 0 0 2 1 0.934920 5 572 0 135 2 0 0 0 0 138 2 -1.975407 0 1 0 0 1 0 1 1 0.100000 2.040000 0.100000 0.180000 0.060000 0.370000 0.170000 0.200937 0.180000 0 0.110000 0.280000 ZNF645 158506 broad.mit.edu 37 X 22292036 22292036 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:22292036C>T ENST00000323684.1 + 1 972 c.928C>T c.(928-930)Cgt>Tgt p.R310C NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 27 TAACTCGGTTCGTAGCCAAGT 0.468000 0 SO:0001583 missense ENST00000323684.1 1 1 hg19 CCDS14205.1 . . . . . . . . . . C 7.658 0.684388 0.14907 . . ENSG00000175809 ENST00000323684 T 0.30448 1.53 2.42 -0.0632 0.13778 . 3.358530 0.02026 N 0.048193 T 0.17577 0.0422 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.24799 -1.0150 10 0.56958 D 0.05 . 5.4112 0.16349 0.0:0.3033:0.0:0.6967 . 310 Q8N7E2 ZN645_HUMAN C 310 ENSP00000323348:R310C ENSP00000323348:R310C R + 1 0 ZNF645 22201957 1.000000 0.71417 0.000000 0.03702 0.001000 0.01503 3.443000 0.52907 -0.088000 0.12506 -0.296000 0.09543 CGT TCGA-IB-A5ST-01A-11D-A32N-08 ZNF645-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056037.1 0 0 0 12 381 0 95 0 0 0 0 95 2 0 0 0 0 0 2 1 0.999106 12 378 0 92 2 0 0 0 0 95 2 -3.171695 1 1 0 0 1 0 1 1 0.100000 2.040000 0.100000 0.620000 0.340000 0.990000 1.000000 0.640135 0.620000 0 0.460000 0.810000 MXRA5 25878 broad.mit.edu 37 X 3242386 3242386 + Missense_Mutation SNP G G A rs146759954 byFrequency TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b266696a-1d45-466a-b065-83f20b4cdc07 726db08f-fb65-418f-9709-8628f97515b5 g.chrX:3242386G>A ENST00000217939.6 - 5 1494 c.1340C>T c.(1339-1341)aCg>aTg p.T447M NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTCTTGGCCGTACTCTGACG 0.488000 0 SO:0001583 missense ENST00000217939.6 0 1 hg19 CCDS14124.1 1 6.027727546714888E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 11.72 1.724062 0.30593 2.61E-4 4.46E-4 ENSG00000101825 ENST00000381114;ENST00000217939 T 0.75050 -0.9 3.63 3.63 0.41609 . 0.177406 0.26673 U 0.023082 T 0.80793 0.4691 M 0.76002 2.32 0.25976 N 0.982438 D 0.76494 0.999 P 0.57846 0.828 T 0.72874 -0.4160 10 0.72032 D 0.01 . 9.133 0.36857 0.1065:0.0:0.8935:0.0 . 447 Q9NR99 MXRA5_HUMAN M 447 ENSP00000217939:T447M ENSP00000217939:T447M T - 2 0 MXRA5 3252386 1.000000 0.71417 0.006000 0.13384 0.069000 0.16628 5.122000 0.64697 1.439000 0.47511 0.431000 0.28591 ACG TCGA-IB-A5ST-01A-11D-A32N-08 MXRA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055655.2 0 0 0 10 805 0 178 0 2.198303e-01 0 65 0 178 2 0 0 0 0 0 2 1 0.996502 10 786 0 175 2 0 0 0 0 178 2 -2.023486 0 1 121412 91 54 1 0 1 1 0.100000 2.040000 0.100000 0.250000 0.120000 0.430000 0.240000 0.266293 0.250000 0 0.180000 0.340000