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 GRHL2 79977 broad.mit.edu 37 8 102649148 102649149 + Frame_Shift_Ins INS - - CTCT TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:102649148_102649149insCTCT ENST00000251808.3 + 12 1847_1848 c.1509_1510insCTCT c.(1510-1512)cgafs p.R504fs GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CGGATGATGAACGAGAAGGGTA 0.421000 0 SO:0001589 frameshift_variant ENST00000251808.3 0 1 hg19 CCDS34931.1 TCGA-2J-AABF-01A-31D-A40W-08 GRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313882.1 1 0 0 29 456 0 120 0 6.769015e-01 0 38 0 120 2 0 0 0 0 0 0 1 1.000000 40 452 0 116 2 -6.350689 1 1 0 0 1 1 2 3 2.071426 0 0.310000 1.840000 0.314252 0.390000 0.260000 1.000000 0.390000 0.415425 0.390000 0 3.200000e-01 4.800000e-01 CASP5 838 broad.mit.edu 37 11 104871109 104871109 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:104871109C>T ENST00000260315.3 - 6 830 c.831G>A c.(829-831)gcG>gcA p.A277A CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393141.2_Silent_p.A290A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000393139.2_3'UTR P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) TCTTTTTATGCGCAGTTCCGC 0.483000 0 SO:0001819 synonymous_variant ENST00000260315.3 0 1 hg19 CCDS8328.2 TCGA-2J-AABF-01A-31D-A40W-08 CASP5-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000109397.2 0 0 0 5 389 0 128 0 7.907256e-04 0 3 0 128 2 0 0 0 0 0 2 1 0.936234 5 385 0 126 2 -2.172465 0 1 121412 1 40 1 0 1 1 1.955032 0 0.310000 1.840000 0.277525 0.080000 0.020000 0.170000 0.080000 0.092742 0.080000 0 5.000000e-02 1.300000e-01 E2F8 79733 broad.mit.edu 37 11 19256510 19256510 + Nonsense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:19256510G>A ENST00000527884.1 - 5 779 c.547C>T c.(547-549)Cga>Tga p.R183* E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 p.R183*(1) 42 AGATTGTGTCGCCCGTGCCAA 0.463000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000527884.1 0 1 hg19 CCDS7849.1 . . . . . . . . . . G 41 8.598033 0.98879 . . ENSG00000129173 ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024 . . . 5.48 4.55 0.56014 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -11.748 9.211 0.37318 0.0759:0.0:0.7658:0.1583 . . . . X 183 . ENSP00000250024:R183X R - 1 2 E2F8 19213086 1.000000 0.71417 0.990000 0.47175 0.703000 0.40648 2.374000 0.44274 1.245000 0.43885 0.655000 0.94253 CGA TCGA-2J-AABF-01A-31D-A40W-08 E2F8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387830.1 1 0 1 59 287 0 129 0 5.309898e-01 1 9 0 129 2 0 0 0 0 0 2 1 1.000000 60 283 0 127 2 -3.116769 1 1 0 0 1 0 1 1 1.934780 0 0.310000 1.840000 0.255784 0.990000 0.790000 1.000000 1.000000 0.962976 0.990000 1 8.900000e-01 1 ABTB2 25841 broad.mit.edu 37 11 34184254 34184254 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:34184254G>A ENST00000435224.2 - 10 2511 c.2087C>T c.(2086-2088)gCg>gTg p.A696V ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGGCTCGACGCATCACTTTC 0.657000 0 SO:0001583 missense ENST00000435224.2 1 1 hg19 CCDS7890.2 . . . . . . . . . . G 7.719 0.696873 0.15106 . . ENSG00000166016 ENST00000435224;ENST00000298992 T;T 0.60171 0.21;0.21 5.11 4.18 0.49190 . 0.887861 0.09993 N 0.729498 T 0.46658 0.1404 N 0.22421 0.69 0.09310 N 1 B 0.17667 0.023 B 0.13407 0.009 T 0.31779 -0.9931 10 0.30078 T 0.28 -19.4398 15.1479 0.72674 0.0:0.1422:0.8578:0.0 . 510 Q8N961 ABTB2_HUMAN V 696;510 ENSP00000410157:A696V;ENSP00000298992:A510V ENSP00000298992:A510V A - 2 0 ABTB2 34140830 0.467000 0.25831 0.001000 0.08648 0.013000 0.08279 3.582000 0.53921 1.128000 0.42052 0.655000 0.94253 GCG TCGA-2J-AABF-01A-31D-A40W-08 ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388703.3 1 0 0 16 170 0 48 1 1.949100e-01 2 7 0 48 2 0 0 0 0 0 2 1 0.999935 16 166 0 45 2 -19.987490 1 1 121410 2 31 1 0 1 1 1.934780 0 0.310000 1.840000 0.255784 0.510000 0.310000 0.770000 0.510000 0.532443 0.510000 0 4.000000e-01 6.500000e-01 MAP6 4135 broad.mit.edu 37 11 75298708 75298708 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:75298708G>A ENST00000304771.3 - 4 2588 c.1838C>T c.(1837-1839)cCt>cTt p.P613L CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 19 Ovarian(111;0.11) ACCCTTGACAGGTGCTGGGAC 0.537000 Esophageal Squamous(181;1115 2007 8647 17065 22697) 0 SO:0001583 missense ENST00000304771.3 1 1 hg19 CCDS31641.1 . . . . . . . . . . G 10.98 1.505538 0.26949 . . ENSG00000171533 ENST00000304771;ENST00000526740;ENST00000545476 T 0.48836 0.8 4.42 1.37 0.22104 . . . . . T 0.40473 0.1118 L 0.58810 1.83 0.18873 N 0.999982 B 0.12013 0.005 B 0.12156 0.007 T 0.31308 -0.9948 9 0.35671 T 0.21 0.8809 6.9282 0.24426 0.0869:0.0:0.6059:0.3071 . 613 Q96JE9 MAP6_HUMAN L 613;284;284 ENSP00000307093:P613L ENSP00000307093:P613L P - 2 0 MAP6 74976356 0.000000 0.05858 0.001000 0.08648 0.042000 0.13812 0.147000 0.16202 0.195000 0.20347 0.435000 0.28638 CCT TCGA-2J-AABF-01A-31D-A40W-08 MAP6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000383527.1 1 0 0 44 458 0 154 0 8.225562e-01 0 35 0 154 2 0 0 0 0 0 2 1 1.000000 44 455 0 153 2 -3.142702 1 1 0 0 1 0 1 1 1.955032 0 0.310000 1.840000 0.277525 0.530000 0.390000 0.700000 0.540000 0.547297 0.530000 0 4.600000e-01 6.200000e-01 TCP11L2 255394 broad.mit.edu 37 12 106705000 106705000 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:106705000C>A ENST00000299045.3 + 2 321 c.147C>A c.(145-147)agC>agA p.S49R TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 15 GCAAATCCAGCTCTCCTGCTT 0.522000 0 SO:0001583 missense ENST00000299045.3 0 1 hg19 CCDS9104.1 . . . . . . . . . . C 10.62 1.401042 0.25291 . . ENSG00000166046 ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428 T;T;T;T;T;T 0.30714 2.19;2.85;2.19;2.19;1.93;1.52 5.91 5.01 0.66863 . 0.357482 0.37178 N 0.002213 T 0.25494 0.0620 L 0.51422 1.61 0.45594 D 0.998536 B;P;P 0.36909 0.437;0.573;0.573 B;B;B 0.33521 0.117;0.165;0.165 T 0.02075 -1.1218 9 . . . -1.542 10.1181 0.42603 0.0:0.8032:0.0:0.1968 . 49;49;49 Q8N4U5;G3V1Y9;G3V1Z2 T11L2_HUMAN;.;. R 49 ENSP00000448952:S49R;ENSP00000299045:S49R;ENSP00000449123:S49R;ENSP00000448629:S49R;ENSP00000447174:S49R;ENSP00000447457:S49R . S + 3 2 TCP11L2 105229130 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 0.943000 0.29030 2.793000 0.96121 0.655000 0.94253 AGC TCGA-2J-AABF-01A-31D-A40W-08 TCP11L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407206.1 0 0 0 4 154 0 56 0 1.046775e-01 0 17 0 56 2 0 0 0 0 0 2 1 0.886830 2 153 0 52 2 -6.149728 1 0 0 0 1 0 0 0 1.940925 0 0.310000 1.840000 0.269223 0.160000 0.050000 0.360000 0.150000 0.187112 0.160000 0 1.000000e-01 2.600000e-01 PLEKHA5 54477 broad.mit.edu 37 12 19436284 19436284 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:19436284G>A ENST00000299275.6 + 11 1372 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K NM_019012.5 NP_061885.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CCGCTACCCTGAAGGTTATAG 0.408000 Pancreas(196;329 2193 11246 14234 19524) 0 SO:0001583 missense ENST00000299275.6 1 1 hg19 CCDS8682.1 . . . . . . . . . . G 22.2 4.259184 0.80246 . . ENSG00000052126 ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974 T;T;T;T;T;T;T;T;T;T;T 0.13901 2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55 4.16 3.25 0.37280 . 0.050946 0.85682 D 0.000000 T 0.37019 0.0988 M 0.78801 2.425 0.46874 D 0.999231 D;D;D;D;D;D;D 0.76494 0.995;0.996;0.997;0.992;0.999;0.985;0.991 D;D;D;P;D;P;D 0.78314 0.92;0.94;0.939;0.872;0.991;0.831;0.919 T 0.33624 -0.9861 10 0.72032 D 0.01 -3.3078 13.6615 0.62370 0.0:0.0:0.8444:0.1556 . 456;348;348;462;462;456;456 Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2 .;.;.;.;.;PKHA5_HUMAN;. K 456;456;456;463;456;462;456;214;456;348;348;348 ENSP00000325155:E456K;ENSP00000347560:E456K;ENSP00000352104:E456K;ENSP00000311239:E456K;ENSP00000404296:E462K;ENSP00000299275:E456K;ENSP00000440611:E214K;ENSP00000439673:E456K;ENSP00000400411:E348K;ENSP00000439837:E348K;ENSP00000440371:E348K ENSP00000299275:E456K E + 1 0 PLEKHA5 19327551 1.000000 0.71417 0.998000 0.56505 0.879000 0.50718 8.625000 0.90965 1.075000 0.40932 0.655000 0.94253 GAA TCGA-2J-AABF-01A-31D-A40W-08 PLEKHA5-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000397013.1 1 0 1 25 214 0 45 1 9.998247e-01 15 105 0 45 2 0 0 0 0 0 2 1 1.000000 25 209 0 43 2 -20.000000 1 1 0 0 1 1 2 3 2.301137 1 0.310000 1.840000 0.394471 0.790000 0.520000 1.000000 1.000000 0.799385 0.790000 0 6.400000e-01 9.900000e-01 PDE3A 5139 broad.mit.edu 37 12 20774340 20774340 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:20774340G>A ENST00000359062.3 + 5 1575 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811) AAGCAAAGTCGACCAGGTAAG 0.418000 0 SO:0001583 missense ENST00000359062.3 1 1 hg19 CCDS31754.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 26.7 4.765502 0.90020 . . ENSG00000172572 ENST00000359062 T 0.51574 0.7 5.37 4.46 0.54185 . 1.750830 0.03388 N 0.201351 T 0.60117 0.2244 L 0.55481 1.735 0.41511 D 0.988349 D 0.71674 0.998 P 0.51229 0.663 T 0.41215 -0.9521 10 0.72032 D 0.01 . 13.5478 0.61715 0.0:0.0:0.844:0.156 . 512 Q14432 PDE3A_HUMAN Q 512 ENSP00000351957:R512Q ENSP00000351957:R512Q R + 2 0 PDE3A 20665607 1.000000 0.71417 0.994000 0.49952 0.988000 0.76386 6.227000 0.72282 1.222000 0.43521 0.591000 0.81541 CGA TCGA-2J-AABF-01A-31D-A40W-08 PDE3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401756.2 1 0 0 14 170 0 50 0 3.126308e-01 0 14 0 50 2 0 0 0 0 0 2 1 0.999792 14 170 0 48 2 -18.854500 1 1 121376 4 38 1 1 2 3 2.301137 1 0.310000 1.840000 0.394471 0.580000 0.330000 1.000000 0.550000 0.620874 0.580000 0 4.400000e-01 7.900000e-01 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-2J-AABF-01A-31D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 23 198 0 52 1 9.481428e-01 8 37 0 52 2 1 1 40 383 0 383 2 1 0.999999 23 194 0 51 2 -10.407220 1 1 121404 2 44 1 1 2 3 2.301137 1 0.310000 1.840000 0.394471 0.780000 0.510000 1.000000 1.000000 0.796552 0.780000 0 6.300000e-01 1 RARG 5916 broad.mit.edu 37 12 53607867 53607867 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:53607867G>A ENST00000425354.2 - 7 1276 c.789C>T c.(787-789)ctC>ctT p.L263L RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCAGCTTTGAGCAGAGTGA 0.532000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant ENST00000425354.2 1 1 hg19 CCDS8850.1 TCGA-2J-AABF-01A-31D-A40W-08 RARG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109404.2 0 0 1 77 1008 1 270 1 9.880883e-01 18 121 1 270 4 0 0 0 0 0 2 1 1.000000 76 992 0 264 2 -13.670260 1 1 0 0 1 0 0 0 1.940925 0 0.310000 1.840000 0.269223 0.420000 0.340000 0.530000 0.430000 0.436025 0.420000 0 3.800000e-01 4.800000e-01 HOXC12 3228 broad.mit.edu 37 12 54348951 54348951 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:54348951G>A ENST00000243103.3 + 1 334 c.238G>A c.(238-240)Ggc>Agc p.G80S AC012531.23_ENST00000603432.1_lincRNA NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 12 CCCTCCCTTCGGCCGCACGTG 0.721000 0 SO:0001583 missense ENST00000243103.3 0 1 hg19 CCDS8866.1 . . . . . . . . . . G 11.09 1.536334 0.27475 . . ENSG00000123407 ENST00000243103 D 0.92348 -3.02 2.85 2.85 0.33270 . 0.142741 0.48286 D 0.000198 T 0.71350 0.3329 N 0.00642 -1.3 0.32432 N 0.547853 B 0.21688 0.059 B 0.10450 0.005 T 0.71196 -0.4664 10 0.20519 T 0.43 . 7.7023 0.28630 0.1267:0.0:0.8733:0.0 . 80 P31275 HXC12_HUMAN S 80 ENSP00000243103:G80S ENSP00000243103:G80S G + 1 0 HOXC12 52635218 1.000000 0.71417 0.995000 0.50966 0.986000 0.74619 3.133000 0.50531 1.903000 0.55091 0.455000 0.32223 GGC TCGA-2J-AABF-01A-31D-A40W-08 HOXC12-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358868.2 1 0 0 8 57 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 0.990316 8 56 0 16 2 -14.824040 1 1 120772 2 28 1 0 0 0 1.940925 0 0.310000 1.840000 0.269223 0.750000 0.370000 1.000000 1.000000 0.755933 0.750000 0 5.400000e-01 1 USP5 8078 broad.mit.edu 37 12 6970246 6970246 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:6970246C>T ENST00000229268.8 + 12 1526 c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S USP5_ENST00000389231.5_Missense_Mutation_p.P492S|USP5_ENST00000541969.1_3'UTR NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 36 GCTGCCTGTGCCCATGGATGC 0.557000 0 SO:0001583 missense ENST00000229268.8 1 1 hg19 CCDS41743.1 . . . . . . . . . . C 30 5.055182 0.93793 . . ENSG00000111667 ENST00000229268;ENST00000389231;ENST00000542087 T;T 0.76316 -1.01;-1.01 5.04 5.04 0.67666 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 0.000000 0.85682 D 0.000000 D 0.88941 0.6574 M 0.85710 2.77 0.80722 D 1 D;D 0.60160 0.981;0.987 D;P 0.66084 0.941;0.779 D 0.90329 0.4350 10 0.66056 D 0.02 -5.5005 18.5776 0.91161 0.0:1.0:0.0:0.0 . 492;492 P45974;P45974-2 UBP5_HUMAN;. S 492;492;135 ENSP00000229268:P492S;ENSP00000373883:P492S ENSP00000229268:P492S P + 1 0 USP5 6840507 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.651000 0.83577 2.610000 0.88304 0.561000 0.74099 CCC TCGA-2J-AABF-01A-31D-A40W-08 USP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402982.1 0 0 1 45 670 1 165 1 9.747720e-01 25 190 1 165 7 0 0 0 0 0 2 1 1.000000 45 657 0 162 2 -8.531366 1 1 121412 2 35 1 1 2 3 2.301137 1 0.310000 1.840000 0.394471 0.470000 0.340000 1.000000 0.460000 0.513466 0.470000 0 4.000000e-01 5.700000e-01 CEP290 80184 broad.mit.edu 37 12 88512344 88512344 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:88512344C>T ENST00000552810.1 - 17 1970 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K CEP290_ENST00000309041.7_Missense_Mutation_p.E545K|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 73 TCTAGACTTTCAATCTGCAAA 0.333000 0 SO:0001583 missense ENST00000552810.1 1 1 hg19 CCDS55858.1 . . . . . . . . . . C 33 5.220537 0.95139 . . ENSG00000198707 ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139 T;T 0.66099 -0.17;-0.19 5.53 5.53 0.82687 . 0.000000 0.85682 D 0.000000 T 0.75019 0.3793 M 0.64997 1.995 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.997 T 0.68123 -0.5492 10 0.07175 T 0.84 . 19.4827 0.95016 0.0:1.0:0.0:0.0 . 543;543 Q05BJ6;O15078 .;CE290_HUMAN K 543;545;543;445 ENSP00000448012:E543K;ENSP00000308021:E545K ENSP00000308021:E545K E - 1 0 CEP290 87036475 1.000000 0.71417 1.000000 0.80357 0.933000 0.57130 5.443000 0.66581 2.601000 0.87937 0.585000 0.79938 GAA TCGA-2J-AABF-01A-31D-A40W-08 CEP290-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000406344.1 1 0 1 10 41 0 18 0 4.379520e-01 1 6 0 18 2 0 0 0 0 0 2 1 0.997850 10 41 0 17 2 -9.540794 1 1 0 0 1 0 0 0 1.940925 0 0.310000 1.840000 0.269223 0.990000 0.620000 1.000000 1.000000 0.949744 0.990000 1 8.600000e-01 1 TARSL2 123283 broad.mit.edu 37 15 102252128 102252128 + Missense_Mutation SNP G G A rs146271638 byFrequency TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:102252128G>A ENST00000335968.3 - 5 983 c.767C>T c.(766-768)cCg>cTg p.P256L NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCAATGGGCGGACCGTAGCA 0.463000 0 SO:0001583 missense ENST00000335968.3 1 1 hg19 CCDS10394.1 . . . . . . . . . . g 21.0 4.084891 0.76642 4.54E-4 0.0 ENSG00000185418 ENST00000335968;ENST00000539112 D;D 0.84146 -1.81;-1.81 5.49 4.58 0.56647 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1); 0.108661 0.64402 N 0.000004 D 0.94637 0.8271 H 0.98446 4.235 0.80722 D 1 D 0.71674 0.998 P 0.62813 0.907 D 0.95685 0.8735 10 0.72032 D 0.01 -4.9582 12.3389 0.55083 0.0818:0.0:0.9182:0.0 . 256 A2RTX5 SYTC2_HUMAN L 256 ENSP00000338093:P256L;ENSP00000439899:P256L ENSP00000338093:P256L P - 2 0 TARSL2 100069651 1.000000 0.71417 0.382000 0.26119 0.886000 0.51366 7.731000 0.84895 1.342000 0.45619 -0.264000 0.10439 CCG TCGA-2J-AABF-01A-31D-A40W-08 TARSL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313619.3 1 0 0 11 157 0 58 1 4.336883e-01 2 19 0 58 2 0 0 0 0 0 2 1 0.998235 10 153 0 57 2 -2.809209 1 1 121412 6 38 1 0 1 1 1.934762 0 0.310000 1.840000 0.265606 0.400000 0.210000 0.650000 0.390000 0.420875 0.400000 0 2.900000e-01 5.300000e-01 TBC1D2B 23102 broad.mit.edu 37 15 78305282 78305282 + Missense_Mutation SNP A A T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:78305282A>T ENST00000300584.3 - 9 2152 c.2153T>A c.(2152-2154)cTg>cAg p.L718Q TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 26 GTTGTTGGGCAGAGTTCGCAG 0.547000 0 SO:0001583 missense ENST00000300584.3 1 1 hg19 CCDS45314.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 25.0|25.0 4.590106|4.590106 0.86851|0.86851 .|. .|. ENSG00000167202|ENSG00000167202 ENST00000418039|ENST00000409931;ENST00000300584 .|T;T .|0.12879 .|2.64;2.64 5.47|5.47 5.47|5.47 0.80525|0.80525 .|Rab-GAP/TBC domain (4); .|0.000000 .|0.64402 .|D .|0.000001 T|T 0.48642|0.48642 0.1511|0.1511 M|M 0.93854|0.93854 3.465|3.465 0.80722|0.80722 D|D 1|1 .|D;D;D .|0.89917 .|1.0;1.0;1.0 .|D;D;D .|0.97110 .|0.999;0.996;1.0 T|T 0.62459|0.62459 -0.6850|-0.6850 5|10 .|0.87932 .|D .|0 .|. 15.0304|15.0304 0.71701|0.71701 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. .|718;170;718 .|Q9UPU7-2;Q9UPU7-3;Q9UPU7 .|.;.;TBD2B_HUMAN S|Q 600|718 .|ENSP00000387165:L718Q;ENSP00000300584:L718Q .|ENSP00000300584:L718Q C|L -|- 1|2 0|0 TBC1D2B|TBC1D2B 76092337|76092337 1.000000|1.000000 0.71417|0.71417 0.992000|0.992000 0.48379|0.48379 0.987000|0.987000 0.75469|0.75469 9.109000|9.109000 0.94291|0.94291 2.199000|2.199000 0.70637|0.70637 0.533000|0.533000 0.62120|0.62120 TGC|CTG TCGA-2J-AABF-01A-31D-A40W-08 TBC1D2B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000328369.3 1 0 0 13 140 0 44 1 9.960452e-01 3 101 0 44 2 0 0 0 0 0 2 1 0.999574 12 139 0 44 2 -6.927146 1 1 0 0 1 0 1 1 1.934762 0 0.310000 1.840000 0.265606 0.520000 0.290000 0.810000 0.510000 0.537553 0.520000 0 3.900000e-01 6.700000e-01 FAH 2184 broad.mit.edu 37 15 80465429 80465429 + Silent SNP T T A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:80465429T>A ENST00000407106.1 + 10 935 c.780T>A c.(778-780)tcT>tcA p.S260S FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000539156.1_Silent_p.S190S P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 19 CCACTGTCTCTCCGTGGGTGG 0.572000 Tyrosinemia, type 1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant Familial Cancer Database Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1 ENST00000407106.1 1 1 hg19 CCDS10314.1 TCGA-2J-AABF-01A-31D-A40W-08 FAH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000291392.2 0 0 1 64 277 0 98 1 9.992279e-01 13 36 0 98 2 0 0 0 0 0 2 1 1.000000 64 271 0 98 2 -20.000000 1 1 0 0 1 0 1 1 1.934762 0 0.310000 1.840000 0.265606 0.990000 0.890000 1.000000 1.000000 0.992153 0.990000 1 9.900000e-01 1 ASGR2 433 broad.mit.edu 37 17 7010342 7010342 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:7010342C>T ENST00000380952.2 - 7 904 c.640G>A c.(640-642)Gtc>Atc p.V214I ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172|NP_001188281.1|NP_550434 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 18 Antihemophilic Factor(DB00025) GAGTTGATGACCACCAGGTGT 0.607000 0 SO:0001583 missense ENST00000380952.2 1 1 hg19 CCDS32544.1 . . . . . . . . . . C 20.3 3.969611 0.74246 . . ENSG00000161944 ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679 T;T;T;T 0.17213 2.29;2.29;2.29;2.29 4.45 4.45 0.53987 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3); 0.000000 0.40064 N 0.001193 T 0.21962 0.0529 N 0.17594 0.5 0.29055 N 0.88428 D;D;P;P;P 0.63880 0.993;0.977;0.787;0.747;0.894 D;D;P;P;D 0.79108 0.992;0.958;0.799;0.735;0.93 T 0.05818 -1.0862 10 0.13108 T 0.6 . 12.9277 0.58270 0.0:1.0:0.0:0.0 . 190;214;209;195;214 P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0 .;ASGR2_HUMAN;.;.;. I 214;190;214;195 ENSP00000347140:V214I;ENSP00000254850:V190I;ENSP00000370339:V214I;ENSP00000405844:V195I ENSP00000254850:V190I V - 1 0 ASGR2 6951066 0.695000 0.27747 0.999000 0.59377 0.873000 0.50193 0.624000 0.24462 2.175000 0.68902 0.609000 0.83330 GTC TCGA-2J-AABF-01A-31D-A40W-08 ASGR2-201 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000220003.1 1 0 0 18 205 0 73 0 1.749994e-01 0 9 0 73 2 0 0 0 0 0 2 1 0.999982 18 200 0 71 2 -7.478645 1 1 0 0 1 0 1 1 1.790887 1 0.310000 1.840000 0.189380 0.440000 0.270000 0.650000 0.440000 0.454874 0.440000 0 3.500000e-01 5.500000e-01 TP53 7157 broad.mit.edu 37 17 7577555 7577555 + Nonsense_Mutation SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:7577555G>T ENST00000269305.4 - 7 915 c.726C>A c.(724-726)tgC>tgA p.C242* TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242* NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TGCCGCCCATGCAGGAACTGT 0.582000 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 37 Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(7)|Unknown(5)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Substitution - coding silent(2)|Complex - deletion inframe(1) SO:0001587 stop_gained Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . G 18.80 3.701385 0.68501 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 . . . 4.62 3.65 0.41850 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -27.558 7.3895 0.26901 0.195:0.0:0.805:0.0 . . . . X 242;242;242;242;242;242;231;149;110;149 . ENSP00000269305:C242X C - 3 2 TP53 7518280 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 1.984000 0.40658 1.305000 0.44909 0.462000 0.41574 TGC TCGA-2J-AABF-01A-31D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 36 156 0 68 1 9.999966e-01 6 83 0 68 2 1 1 135 683 0 1028 2 1 1.000000 36 153 0 67 2 -19.989310 1 1 0 0 1 0 1 1 1.790887 1 0.310000 1.840000 0.189380 0.920000 0.710000 1.000000 1.000000 0.914840 0.920000 1 8.200000e-01 1 LRP3 4037 broad.mit.edu 37 19 33696978 33696978 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:33696978C>T ENST00000253193.7 + 5 1504 c.1302C>T c.(1300-1302)gcC>gcT p.A434A CTD-2540B15.13_ENST00000609744.1_RNA NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 15 Esophageal squamous(110;0.137) ACACGCCTGCCGACCGCTGCA 0.667000 0 SO:0001819 synonymous_variant ENST00000253193.7 0 1 hg19 CCDS12430.1 TCGA-2J-AABF-01A-31D-A40W-08 LRP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450842.4 0 0 0 5 49 0 9 1 9.887263e-01 5 87 0 9 2 0 0 0 0 0 2 1 0.934407 5 47 0 9 2 -10.684920 1 1 121230 1 25 1 2 2 4 2.270761 1 0.310000 1.840000 0.377537 0.810000 0.290000 1.000000 1.000000 0.772494 0.810000 0 4.900000e-01 1 SIGLEC8 27181 broad.mit.edu 37 19 51961269 51961269 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:51961269G>A ENST00000321424.3 - 1 439 c.373C>T c.(373-375)Cgg>Tgg p.R125W SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 50 all_neural(266;0.0199) CTCTCTAGCCGAAAGAAATAT 0.502000 0 SO:0001583 missense ENST00000321424.3 1 1 hg19 CCDS33086.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 . 13.84 2.358199 0.41801 0.0 1.16E-4 ENSG00000105366 ENST00000430817;ENST00000321424;ENST00000340550 T;T;T 0.66638 -0.22;-0.22;-0.22 2.56 -2.68 0.06041 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); 1.069320 0.07486 N 0.904738 T 0.81574 0.4851 M 0.87038 2.855 0.09310 N 1 D;D;D 0.89917 1.0;1.0;0.986 D;D;P 0.87578 0.952;0.998;0.853 T 0.71889 -0.4456 10 0.72032 D 0.01 . 9.4331 0.38622 0.0:0.0:0.7045:0.2955 . 125;125;125 C9JT30;Q9NYZ4-2;Q9NYZ4 .;.;SIGL8_HUMAN W 125 ENSP00000389142:R125W;ENSP00000321077:R125W;ENSP00000339448:R125W ENSP00000321077:R125W R - 1 2 SIGLEC8 56653081 0.000000 0.05858 0.000000 0.03702 0.164000 0.22412 -2.251000 0.01186 -0.676000 0.05238 0.398000 0.26397 CGG TCGA-2J-AABF-01A-31D-A40W-08 SIGLEC8-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463648.2 1 0 0 30 594 1 152 0 2.235339e-01 0 18 1 152 2 0 0 0 0 0 2 1 0.992199 30 589 1 146 15 -4.415848 1 1 121412 3 39 1 2 2 4 2.309679 1 0.310000 1.840000 0.387809 0.370000 0.240000 1.000000 0.340000 0.509343 0.370000 0 3.000000e-01 1 ZNF83 55769 broad.mit.edu 37 19 53117004 53117004 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:53117004G>A ENST00000597597.1 - 2 3067 c.814C>T c.(814-816)Cat>Tat p.H272Y ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y P51522 ZNF83_HUMAN zinc finger protein 83 18 TGTGAAATATGATGGAAGACC 0.418000 0 SO:0001583 missense ENST00000597597.1 1 1 hg19 CCDS12854.1 . . . . . . . . . . N 0.067 -1.211291 0.01555 . . ENSG00000167766 ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777 T;T;T;T;T 0.06528 3.29;3.29;3.29;3.29;3.29 1.64 -3.27 0.05048 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.02727 0.0082 N 0.16903 0.455 0.09310 N 1 B 0.13145 0.007 B 0.08055 0.003 T 0.46470 -0.9189 9 0.16896 T 0.51 . 1.1943 0.01871 0.4524:0.1528:0.2408:0.154 . 272 P51522 ZNF83_HUMAN Y 272 ENSP00000445993:H272Y;ENSP00000301096:H272Y;ENSP00000445470:H272Y;ENSP00000440713:H272Y;ENSP00000439681:H272Y ENSP00000301096:H272Y H - 1 0 ZNF83 57808816 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -2.434000 0.01021 -1.221000 0.02591 0.411000 0.27672 CAT TCGA-2J-AABF-01A-31D-A40W-08 ZNF83-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463700.1 1 0 0 20 446 0 130 1 9.055210e-01 2 91 0 130 2 0 0 0 0 0 2 1 0.999995 20 441 0 125 2 -19.541450 1 1 0 0 1 2 2 4 2.309679 1 0.310000 1.840000 0.387809 0.340000 0.200000 1.000000 0.310000 0.483310 0.340000 0 2.600000e-01 1 NLRP7 199713 broad.mit.edu 37 19 55452821 55452821 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:55452821C>T ENST00000590030.1 - 1 299 c.259G>A c.(259-261)Gca>Aca p.A87T NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 73 TCAGCCTTTGCCATCTTACAC 0.423000 0 SO:0001583 missense ENST00000590030.1 0 1 hg19 CCDS33109.1 . . . . . . . . . . C 13.27 2.186220 0.38609 . . ENSG00000167634 ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724 T;T;T;T 0.52057 0.68;0.68;0.68;0.68 1.38 1.38 0.22167 Pyrin (2);DEATH-like (2); 1.450530 0.05136 N 0.493515 T 0.64757 0.2627 M 0.70595 2.14 0.09310 N 1 D;D;D;P 0.67145 0.996;0.996;0.996;0.947 D;D;D;P 0.69479 0.964;0.951;0.951;0.695 T 0.44892 -0.9298 10 0.72032 D 0.01 . 6.1849 0.20491 0.0:1.0:0.0:0.0 . 115;87;87;87 E7EPM2;Q32MH9;Q8WX94;Q8WX94-2 .;.;NALP7_HUMAN;. T 87;87;87;115;87 ENSP00000329568:A87T;ENSP00000409137:A87T;ENSP00000339491:A87T;ENSP00000414273:A115T ENSP00000329568:A87T A - 1 0 NLRP7 60144633 0.030000 0.19436 0.002000 0.10522 0.029000 0.11900 1.832000 0.39151 1.055000 0.40461 0.462000 0.41574 GCA TCGA-2J-AABF-01A-31D-A40W-08 NLRP7-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000451396.1 0 0 0 5 389 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 0.929433 5 370 0 90 2 -2.450380 0 1 0 0 1 2 2 4 2.319363 1 0.310000 1.840000 0.391159 0.110000 0.030000 1.000000 0.090000 0.321680 0.110000 0 6.000000e-02 1 ZNF470 388566 broad.mit.edu 37 19 57089047 57089047 + Missense_Mutation SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:57089047G>T ENST00000330619.8 + 6 1936 c.1250G>T c.(1249-1251)aGa>aTa p.R417I ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 p.R417I(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) CAGCATAAGAGAACTCATACT 0.418000 1 Substitution - Missense(1) SO:0001583 missense ENST00000330619.8 1 1 hg19 CCDS33122.1 . . . . . . . . . . G 12.68 2.011176 0.35511 . . ENSG00000197016 ENST00000391709;ENST00000330619 T;T 0.02446 4.29;4.29 4.26 3.18 0.36537 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03477 0.0100 L 0.60012 1.86 0.36453 D 0.866185 P 0.39717 0.684 B 0.35510 0.204 T 0.45891 -0.9230 9 0.54805 T 0.06 . 6.2006 0.20573 0.0973:0.0:0.7151:0.1876 . 417 Q6ECI4 ZN470_HUMAN I 417 ENSP00000375590:R417I;ENSP00000333223:R417I ENSP00000333223:R417I R + 2 0 ZNF470 61780859 0.612000 0.27000 0.991000 0.47740 0.222000 0.24845 3.579000 0.53900 0.965000 0.38133 0.650000 0.86243 AGA TCGA-2J-AABF-01A-31D-A40W-08 ZNF470-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459707.2 1 0 0 16 324 0 76 0 7.537532e-03 0 3 0 76 2 0 0 0 0 0 2 1 0.999935 16 322 0 75 2 -17.254740 1 1 0 0 1 2 2 4 2.319363 1 0.310000 1.840000 0.391159 0.380000 0.210000 1.000000 0.340000 0.513393 0.380000 0 2.800000e-01 1 TIMM44 10469 broad.mit.edu 37 19 7998774 7998774 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:7998774C>T ENST00000270538.3 - 6 926 c.658G>A c.(658-660)Gag>Aag p.E220K TIMM44_ENST00000598968.1_5'Flank NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 17 ACTTTCTCCTCCTTGAACTTA 0.587000 0 SO:0001583 missense ENST00000270538.3 1 1 hg19 CCDS12192.1 . . . . . . . . . . C 13.07 2.126410 0.37533 . . ENSG00000104980 ENST00000270538 T 0.77098 -1.07 5.22 2.99 0.34606 . 0.198544 0.53938 D 0.000059 T 0.62684 0.2448 L 0.33485 1.01 0.45979 D 0.998796 B 0.16396 0.017 B 0.13407 0.009 T 0.53365 -0.8449 10 0.15952 T 0.53 -30.6154 8.8822 0.35380 0.0:0.7654:0.1496:0.085 . 220 O43615 TIM44_HUMAN K 220 ENSP00000270538:E220K ENSP00000270538:E220K E - 1 0 TIMM44 7904774 0.545000 0.26449 0.962000 0.40283 0.719000 0.41307 1.125000 0.31332 1.206000 0.43276 0.561000 0.74099 GAG TCGA-2J-AABF-01A-31D-A40W-08 TIMM44-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461596.3 1 0 1 27 196 0 77 1 9.994582e-01 29 59 0 77 2 0 0 0 0 0 2 1 1.000000 26 191 0 75 2 -3.143211 1 1 0 0 1 0 1 1 1.874815 1 0.310000 1.840000 0.253287 0.710000 0.490000 0.980000 0.720000 0.730587 0.710000 0 5.900000e-01 8.600000e-01 CD1D 912 broad.mit.edu 37 1 158153826 158153826 + Splice_Site SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:158153826G>A ENST00000368171.3 + 6 1485 c.e6+1 NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule p.?(1) 30 all_hematologic(112;0.0378) AGAGGCAAACGTAAGTCTCCC 0.512000 1 Unknown(1) SO:0001630 splice_region_variant ENST00000368171.3 1 1 hg19 CCDS1173.1 . . . . . . . . . . G 10.78 1.447165 0.25987 . . ENSG00000158473 ENST00000368171 . . . 3.87 3.87 0.44632 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 11.6401 0.51228 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . CD1D 156420450 0.982000 0.34865 0.257000 0.24404 0.009000 0.06853 2.797000 0.47877 2.450000 0.82876 0.650000 0.86243 . TCGA-2J-AABF-01A-31D-A40W-08 CD1D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058340.1 1 0 0 43 472 0 137 0 0 0 0 137 2 0 0 0 0 0 2 1 1.000000 42 463 0 136 2 -11.776860 1 1 121412 2 35 1 1 2 3 2.291073 1 0.310000 1.840000 0.374915 0.620000 0.440000 1.000000 0.590000 0.688577 0.620000 0 5.200000e-01 1 PYHIN1 149628 broad.mit.edu 37 1 158913710 158913710 + Missense_Mutation SNP G G A rs148035759 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:158913710G>A ENST00000368140.1 + 6 1378 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 60 all_hematologic(112;0.0378) TTCTGCTTTCGACTGAGAAAG 0.363000 0 SO:0001583 missense ENST00000368140.1 0 1 hg19 CCDS1178.1 . . . . . . . . . . G 0.080 -1.185136 0.01620 6.81E-4 0.0 ENSG00000163564 ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252 T;T;T;T 0.13778 2.56;2.56;2.56;2.56 3.13 0.627 0.17675 HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1); . . . . T 0.01523 0.0049 N 0.21142 0.635 0.09310 N 1 P;P;P;P 0.44429 0.703;0.688;0.703;0.835 B;B;B;B 0.28638 0.023;0.055;0.023;0.092 T 0.45011 -0.9290 9 0.18710 T 0.47 . 5.1931 0.15220 0.7652:0.0:0.2348:0.0 . 369;378;369;378 Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9 .;.;.;IFIX_HUMAN Q 378;369;378;369 ENSP00000357122:R378Q;ENSP00000357120:R369Q;ENSP00000376083:R378Q;ENSP00000376082:R369Q ENSP00000357120:R369Q R + 2 0 PYHIN1 157180334 0.001000 0.12720 0.006000 0.13384 0.046000 0.14306 1.336000 0.33850 -0.002000 0.14469 -0.150000 0.13652 CGA TCGA-2J-AABF-01A-31D-A40W-08 PYHIN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090110.1 0 0 0 8 260 0 60 0 1.022081e-01 0 16 0 60 2 0 0 0 0 0 2 1 0.989178 8 257 0 60 2 -3.346097 1 1 121412 5 38 1 1 2 3 2.291073 1 0.310000 1.840000 0.374915 0.250000 0.100000 1.000000 0.210000 0.398903 0.250000 0 1.600000e-01 1 DDR2 4921 broad.mit.edu 37 1 162729744 162729744 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:162729744G>A ENST00000367922.3 + 9 1268 c.830G>A c.(829-831)cGc>cAc p.R277H DDR2_ENST00000367921.3_Missense_Mutation_p.R277H NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) Regorafenib(DB08896) GAATTTGACCGCATCAGGAAT 0.498000 NSCLC(161;314 2006 8283 19651 23192) 0 SO:0001583 missense ENST00000367922.3 0 1 hg19 CCDS1241.1 . . . . . . . . . . G 20.3 3.970789 0.74246 . . ENSG00000162733 ENST00000367922;ENST00000367921 T;T 0.56776 0.44;0.44 5.6 4.69 0.59074 . 0.048244 0.85682 D 0.000000 T 0.27832 0.0685 L 0.46670 1.46 0.39846 D 0.973175 B 0.34241 0.444 B 0.24701 0.055 T 0.24905 -1.0147 9 0.51188 T 0.08 . 13.4248 0.61020 0.0763:0.0:0.9237:0.0 . 277 Q16832 DDR2_HUMAN H 277 ENSP00000356899:R277H;ENSP00000356898:R277H ENSP00000356898:R277H R + 2 0 DDR2 160996368 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.328000 0.96403 1.368000 0.46115 0.549000 0.68633 CGC TCGA-2J-AABF-01A-31D-A40W-08 DDR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083213.2 0 0 0 5 298 0 61 0 6.312859e-02 0 20 0 61 2 0 0 0 0 0 2 1 0.936957 5 296 0 60 2 -2.607391 1 1 121412 1 29 1 1 2 3 2.291073 1 0.310000 1.840000 0.374915 0.140000 0.040000 1.000000 0.110000 0.322922 0.140000 0 8.000000e-02 1 UBR4 23352 broad.mit.edu 37 1 19505631 19505631 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:19505631C>T ENST00000375254.3 - 18 2295 c.2268G>A c.(2266-2268)gtG>gtA p.V756V UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V NM_020765.2 NP_065816.2 Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) GGCGTGAAAGCACAGAGAGGC 0.507000 0 SO:0001819 synonymous_variant ENST00000375254.3 1 1 hg19 CCDS189.1 TCGA-2J-AABF-01A-31D-A40W-08 UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007085.1 1 0 1 66 406 0 132 1 9.578294e-01 4 30 0 132 2 0 0 0 0 0 2 1 1.000000 66 405 0 130 2 -20.000000 1 1 0 0 1 1 2 3 2.136323 0 0.310000 1.840000 0.325678 0.930000 0.730000 1.000000 1.000000 0.923022 0.930000 1 8.200000e-01 1 HSPG2 3339 broad.mit.edu 37 1 22216568 22216568 + Missense_Mutation SNP C C G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 C G C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:22216568C>G ENST00000374695.3 - 6 559 c.480G>C c.(478-480)caG>caC p.Q160H NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) Palifermin(DB00039) TCTCCTGAATCTGAGCCCCAT 0.622000 0 SO:0001583 missense ENST00000374695.3 1 1 hg19 CCDS30625.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 15.51|15.51 2.856016|2.856016 0.51376|0.51376 .|. .|. ENSG00000142798|ENSG00000142798 ENST00000374695;ENST00000439717|ENST00000412328 T;T|T 0.76186|0.54675 -1.0;0.77|0.56 5.44|5.44 4.53|4.53 0.55603|0.55603 SEA (2);|. 0.000000|. 0.37857|. N|. 0.001913|. T|T 0.58906|0.58906 0.2155|0.2155 L|L 0.29908|0.29908 0.895|0.895 0.51233|0.51233 D|D 0.999914|0.999914 D|D 0.67145|0.89917 0.996|1.0 D|D 0.64042|0.71656 0.921|0.974 T|T 0.62576|0.62576 -0.6825|-0.6825 10|9 0.87932|0.72032 D|D 0|0.01 .|. 11.8428|11.8428 0.52364|0.52364 0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839 .|. 160|83 P98160|Q5SZI5 PGBM_HUMAN|. H|T 160;126|83 ENSP00000363827:Q160H;ENSP00000395884:Q126H|ENSP00000405412:R83T ENSP00000363827:Q160H|ENSP00000405412:R83T Q|R -|- 3|2 2|0 HSPG2|HSPG2 22089155|22089155 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.067000|0.067000 0.16453|0.16453 5.185000|5.185000 0.65076|0.65076 1.533000|1.533000 0.49186|0.49186 0.650000|0.650000 0.86243|0.86243 CAG|AGA TCGA-2J-AABF-01A-31D-A40W-08 HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 1 0 0 44 429 0 118 0 9.999975e-01 0 187 0 118 2 0 0 0 0 0 2 1 1.000000 40 422 0 116 2 -13.981740 1 0 0 0 1 0.310000 1.840000 0 0 HSPG2 3339 broad.mit.edu 37 1 22216609 22216609 + Nonsense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:22216609C>A ENST00000374695.3 - 6 518 c.439G>T c.(439-441)Gag>Tag p.E147* NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) Palifermin(DB00039) ACATCCAGCTCCACAAAAACC 0.617000 0 SO:0001587 stop_gained ENST00000374695.3 0 1 hg19 CCDS30625.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 25.7|25.7 4.666493|4.666493 0.88251|0.88251 .|. .|. ENSG00000142798|ENSG00000142798 ENST00000374695;ENST00000439717|ENST00000412328 .|T .|0.55413 .|0.52 5.44|5.44 5.44|5.44 0.79542|0.79542 .|. 0.000000|. 0.40385|. N|. 0.001116|. .|T .|0.73187 .|0.3555 .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|D .|0.89917 .|1.0 .|D .|0.74348 .|0.983 .|T .|0.75659 .|-0.3241 .|7 0.87932|0.66056 D|D 0|0.02 .|. 16.8112|16.8112 0.85720|0.85720 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|69 .|Q5SZI5 .|. X|C 147;113|69 .|ENSP00000405412:W69C ENSP00000363827:E147X|ENSP00000405412:W69C E|W -|- 1|3 0|0 HSPG2|HSPG2 22089196|22089196 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.905000|0.905000 0.53344|0.53344 6.844000|6.844000 0.75390|0.75390 2.837000|2.837000 0.97791|0.97791 0.655000|0.655000 0.94253|0.94253 GAG|TGG TCGA-2J-AABF-01A-31D-A40W-08 HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 1 0 0 43 374 0 113 0 9.999994e-01 0 188 0 113 2 0 0 0 0 0 2 1 1.000000 39 368 0 110 2 -14.858780 1 0 0 0 1 0.310000 1.840000 0 0 TMEM63A 9725 broad.mit.edu 37 1 226037743 226037743 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:226037743C>T ENST00000366835.3 - 21 2211 c.1941G>A c.(1939-1941)cgG>cgA p.R647R NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A 24 Breast(184;0.197) AGAGGTTGTGCCGGTCCACCA 0.602000 0 SO:0001819 synonymous_variant ENST00000366835.3 0 1 hg19 CCDS31042.1 TCGA-2J-AABF-01A-31D-A40W-08 TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091154.2 0 0 0 5 476 0 97 0 8.750074e-01 1 359 0 97 2 0 0 0 0 0 2 1 0.936118 5 471 0 96 2 -1.918755 0 1 0 0 1 1 2 3 2.294266 1 0.310000 1.840000 0.372271 0.090000 0.020000 1.000000 0.080000 0.290918 0.090000 0 5.000000e-02 1 RYR2 6262 broad.mit.edu 37 1 237550598 237550598 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:237550598C>T ENST00000366574.2 + 9 911 c.594C>T c.(592-594)aaC>aaT p.N198N RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTATGGCAACGGCAGCTTAC 0.498000 0 SO:0001819 synonymous_variant ENST00000366574.2 1 1 hg19 CCDS55691.1 TCGA-2J-AABF-01A-31D-A40W-08 RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095402.2 1 0 1 55 349 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 1.000000 54 342 0 87 2 -20.000000 1 1 120902 39 47 1 1 2 3 2.294266 1 0.310000 1.840000 0.372271 0.990000 0.750000 1.000000 1.000000 0.951265 0.990000 1 8.600000e-01 1 PGBD2 267002 broad.mit.edu 37 1 249212345 249212345 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:249212345C>T ENST00000329291.5 + 3 1709 c.1562C>T c.(1561-1563)gCc>gTc p.A521V PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V NM_170725.2 NP_733843.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGATACATTGCCTGTGTGTAT 0.532000 0 SO:0001583 missense ENST00000329291.5 0 1 hg19 CCDS31128.1 . . . . . . . . . . . 10.26 1.299979 0.23650 . . ENSG00000185220 ENST00000355360;ENST00000329291;ENST00000539153 T;T;T 0.14893 2.47;2.67;2.67 3.05 3.05 0.35203 . 0.122356 0.33650 N 0.004692 T 0.15392 0.0371 N 0.04018 -0.295 0.30874 N 0.73219 P;D 0.76494 0.778;0.999 B;D 0.80764 0.262;0.994 T 0.06092 -1.0846 10 0.14656 T 0.56 . 9.8324 0.40950 0.0:1.0:0.0:0.0 . 518;521 F5H4U7;Q6P3X8 .;PGBD2_HUMAN V 270;521;518 ENSP00000355424:A270V;ENSP00000331643:A521V;ENSP00000439950:A518V ENSP00000331643:A521V A + 2 0 PGBD2 247178968 0.994000 0.37717 0.937000 0.37676 0.055000 0.15305 1.573000 0.36472 1.999000 0.58509 0.467000 0.42956 GCC TCGA-2J-AABF-01A-31D-A40W-08 PGBD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000097318.1 0 0 0 5 263 0 66 0 3.080870e-01 1 50 0 66 2 0 0 0 0 0 2 1 0.936888 5 261 0 64 2 -6.091882 1 1 0 0 1 0.310000 1.840000 0 0 GRIK3 2899 broad.mit.edu 37 1 37346362 37346362 + Silent SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:37346362C>A ENST00000373091.3 - 3 439 c.423G>T c.(421-423)ccG>ccT p.P141P GRIK3_ENST00000373093.4_Silent_p.P141P NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) TGTTGTCCAGCGGGTGGTGCT 0.612000 0 SO:0001819 synonymous_variant ENST00000373091.3 1 1 hg19 CCDS416.1 TCGA-2J-AABF-01A-31D-A40W-08 GRIK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012053.1 1 0 1 30 210 0 55 0 1.686903e-02 0 2 0 55 2 0 0 0 0 0 2 1 1.000000 30 206 0 54 2 -3.222486 1 1 0 0 1 1 2 3 2.129237 0 0.310000 1.840000 0.324655 0.840000 0.580000 1.000000 1.000000 0.846405 0.840000 0 7.000000e-01 1 NFS1 9054 broad.mit.edu 37 20 34260692 34260692 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:34260692C>T ENST00000374092.4 - 12 1365 c.1295G>A c.(1294-1296)cGt>cAt p.R432H NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151) TTCTCGAAGACGCTTCACATG 0.458000 0 SO:0001583 missense ENST00000374092.4 1 1 hg19 CCDS13262.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 27.6 4.850104 0.91277 . . ENSG00000244005 ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387 T;T;T;T;T 0.48522 1.78;2.8;2.8;0.81;1.78 5.26 4.32 0.51571 Pyridoxal phosphate-dependent transferase, major domain (1); 0.050804 0.85682 D 0.000000 T 0.67850 0.2937 M 0.82132 2.575 0.80722 D 1 D;D 0.76494 0.999;0.991 D;P 0.66497 0.944;0.651 T 0.73285 -0.4031 10 0.62326 D 0.03 -6.6659 14.1886 0.65623 0.0:0.9281:0.0:0.0719 . 381;432 F5GYK5;Q9Y697 .;NFS1_HUMAN H 432;372;372;230;381 ENSP00000363205:R432H;ENSP00000363198:R372H;ENSP00000380570:R372H;ENSP00000438594:R230H;ENSP00000440897:R381H ENSP00000363198:R372H R - 2 0 NFS1 33724106 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.285000 0.78660 1.450000 0.47717 0.563000 0.77884 CGT TCGA-2J-AABF-01A-31D-A40W-08 NFS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078936.4 0 0 0 15 185 0 74 1 9.782217e-01 9 72 0 74 2 0 0 0 0 0 2 1 0.999878 15 182 0 73 2 -19.570460 1 1 121412 8 38 1 1 2 3 2.090793 0 0.310000 1.840000 0.318451 0.500000 0.290000 1.000000 0.490000 0.543230 0.500000 0 3.900000e-01 6.700000e-01 KIAA1755 85449 broad.mit.edu 37 20 36868017 36868017 + Missense_Mutation SNP T T C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:36868017T>C ENST00000279024.4 - 4 1931 c.1660A>G c.(1660-1662)Acc>Gcc p.T554A NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 54 Myeloproliferative disorder(115;0.00874) TCCTCCAGGGTGGGGCCTCTT 0.617000 0 SO:0001583 missense ENST00000279024.4 1 1 hg19 CCDS33467.1 . . . . . . . . . . T 0.464 -0.887640 0.02511 . . ENSG00000149633 ENST00000279024;ENST00000373398 T 0.05025 3.51 4.43 -5.28 0.02755 . 1.521150 0.03937 N 0.286316 T 0.02688 0.0081 N 0.04880 -0.145 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.44174 -0.9345 10 0.10111 T 0.7 . 6.8638 0.24082 0.0:0.3583:0.4205:0.2212 . 554 Q5JYT7 K1755_HUMAN A 554;101 ENSP00000279024:T554A ENSP00000279024:T554A T - 1 0 KIAA1755 36301431 0.000000 0.05858 0.000000 0.03702 0.713000 0.41058 -2.726000 0.00808 -0.948000 0.03668 0.374000 0.22700 ACC TCGA-2J-AABF-01A-31D-A40W-08 KIAA1755-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079144.3 1 0 0 15 265 0 71 0 1.870539e-01 1 13 0 71 2 0 0 0 0 0 2 1 0.999863 15 260 0 71 2 -5.252286 1 1 0 0 1 1 2 3 2.090793 0 0.310000 1.840000 0.318451 0.360000 0.200000 1.000000 0.350000 0.408441 0.360000 0 2.700000e-01 4.800000e-01 CDC25B 994 broad.mit.edu 37 20 3785242 3785242 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:3785242G>A ENST00000245960.5 + 15 2214 c.1517G>A c.(1516-1518)cGt>cAt p.R506H CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 18 GAACGAGACCGTGCTGTCAAC 0.592000 0 SO:0001583 missense ENST00000245960.5 1 1 hg19 CCDS13067.1 . . . . . . . . . . G 19.80 3.895500 0.72639 . . ENSG00000101224 ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833 T;T;T;T;T 0.26067 1.76;1.76;1.76;1.76;1.76 5.15 4.19 0.49359 Rhodanese-like (5); 0.000000 0.85682 D 0.000000 T 0.64316 0.2587 H 0.97365 3.99 0.58432 D 0.999999 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;0.999;0.999;0.999 T 0.76323 -0.3001 10 0.87932 D 0 -33.0368 12.1596 0.54098 0.0851:0.0:0.9149:0.0 . 415;428;442;465;492;506 B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305 .;.;.;.;.;MPIP2_HUMAN H 442;415;506;492;465 ENSP00000339125:R442H;ENSP00000368918:R415H;ENSP00000245960:R506H;ENSP00000405972:R492H;ENSP00000339170:R465H ENSP00000245960:R506H R + 2 0 CDC25B 3733242 1.000000 0.71417 0.201000 0.23476 0.563000 0.35712 9.313000 0.96297 1.295000 0.44724 0.563000 0.77884 CGT TCGA-2J-AABF-01A-31D-A40W-08 CDC25B-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077779.2 1 0 1 112 567 0 128 1 1 83 225 0 128 2 0 0 0 0 0 2 1 1.000000 110 552 0 128 2 -20.000000 1 1 0 0 1 2 3 5 2.260024 1 0.310000 1.840000 0.374036 0.990000 0.980000 1.000000 1.000000 0.998895 0.990000 1 9.900000e-01 1 NTSR1 4923 broad.mit.edu 37 20 61341006 61341006 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:61341006C>T ENST00000370501.3 + 1 818 c.447C>T c.(445-447)gaC>gaT p.D149D NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TCCTGCGCGACGCCTGCACCT 0.662000 GBM(37;400 780 6403 19663 35669) 0 SO:0001819 synonymous_variant ENST00000370501.3 1 1 hg19 CCDS13502.1 TCGA-2J-AABF-01A-31D-A40W-08 NTSR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080061.1 1 0 0 18 271 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 0.999978 18 261 0 60 2 -19.974640 1 1 0 0 1 1 2 3 2.090793 0 0.310000 1.840000 0.318451 0.420000 0.250000 1.000000 0.410000 0.460417 0.420000 0 3.200000e-01 5.500000e-01 DIDO1 11083 broad.mit.edu 37 20 61511164 61511164 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:61511164G>A ENST00000266070.4 - 16 6469 c.6144C>T c.(6142-6144)tcC>tcT p.S2048S DIDO1_ENST00000395343.1_Silent_p.S2048S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 99 Breast(26;5.68e-08) AGGAGAGCGCGGAGGGCGGCC 0.721000 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) 0 SO:0001819 synonymous_variant ENST00000266070.4 1 1 hg19 CCDS33506.1 TCGA-2J-AABF-01A-31D-A40W-08 DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 1 0 0 28 384 0 142 1 6.214326e-01 3 27 0 142 2 0 0 0 0 0 2 1 1.000000 27 354 0 138 2 -7.472040 1 1 118276 4 38 1 1 2 3 2.090793 0 0.310000 1.840000 0.318451 0.450000 0.300000 1.000000 0.440000 0.490211 0.450000 0 3.700000e-01 5.600000e-01 RFPL1 5988 broad.mit.edu 37 22 29837713 29837713 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:29837713G>A ENST00000354373.2 + 2 765 c.556G>A c.(556-558)Gtg>Atg p.V186M RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 16 GGAGGTGGACGTGGGAACAAG 0.562000 0 SO:0001583 missense ENST00000354373.2 1 1 hg19 CCDS13857.2 . . . . . . . . . . G 14.11 2.436705 0.43224 . . ENSG00000128250 ENST00000354373 T 0.74526 -0.85 0.911 -0.286 0.12862 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); . . . . T 0.80737 0.4680 M 0.72894 2.215 0.23943 N 0.9964 D 0.76494 0.999 D 0.68353 0.957 T 0.67317 -0.5701 9 0.66056 D 0.02 . 5.1838 0.15174 0.2409:0.0:0.7591:0.0 . 186 O75677 RFPL1_HUMAN M 186 ENSP00000346342:V186M ENSP00000346342:V186M V + 1 0 RFPL1 28167713 1.000000 0.71417 0.005000 0.12908 0.397000 0.30659 2.655000 0.46707 -0.047000 0.13423 0.184000 0.17185 GTG TCGA-2J-AABF-01A-31D-A40W-08 RFPL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318719.1 1 0 0 32 354 0 99 0 2.096716e-02 0 3 0 99 2 0 0 0 0 0 2 1 1.000000 26 306 0 102 2 -9.805426 1 1 121410 1 37 1 0 1 1 1.797465 1 0.310000 1.840000 0.193784 0.450000 0.310000 0.610000 0.450000 0.464573 0.450000 0 3.800000e-01 5.400000e-01 CACNA1I 8911 broad.mit.edu 37 22 40060900 40060900 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:40060900C>T ENST00000402142.3 + 21 3823 c.3823C>T c.(3823-3825)Cgg>Tgg p.R1275W CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W NM_021096.3 NP_066919.2 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 60 Melanoma(58;0.0749) Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909) CCGAGTCTTGCGGCTCCTGCG 0.637000 0 SO:0001583 missense ENST00000402142.3 0 1 hg19 CCDS46710.1 . . . . . . . . . . C 16.71 3.198582 0.58126 . . ENSG00000100346 ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164 D;D;D;D;D;D 0.98633 -5.04;-5.04;-5.04;-5.04;-5.04;-5.04 4.3 3.27 0.37495 Ion transport (1); 0.062424 0.64402 D 0.000005 D 0.99548 0.9838 H 0.99732 4.735 0.51767 D 0.99993 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.999;0.999;0.999 D 0.97772 1.0227 10 0.87932 D 0 . 13.5507 0.61730 0.1567:0.8433:0.0:0.0 . 1240;1275;1240;1275 Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4 .;.;.;CAC1I_HUMAN W 1275;1240;1275;1240;1281;1240 ENSP00000385019:R1275W;ENSP00000384093:R1240W;ENSP00000383887:R1275W;ENSP00000385680:R1240W;ENSP00000337829:R1281W;ENSP00000383028:R1240W ENSP00000337829:R1281W R + 1 2 CACNA1I 38390846 0.828000 0.29307 1.000000 0.80357 0.393000 0.30537 0.692000 0.25482 0.791000 0.33826 0.462000 0.41574 CGG TCGA-2J-AABF-01A-31D-A40W-08 CACNA1I-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000321290.1 0 0 0 5 190 0 70 0 0 0 1 0 70 2 0 0 0 0 0 2 1 0.930286 5 181 0 69 2 -2.691682 1 1 0 0 1 0 1 1 1.797465 1 0.310000 1.840000 0.193784 0.150000 0.050000 0.300000 0.140000 0.164602 0.150000 0 9.000000e-02 2.300000e-01 PKDREJ 10343 broad.mit.edu 37 22 46654414 46654414 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:46654414G>A ENST00000253255.5 - 1 4805 c.4806C>T c.(4804-4806)taC>taT p.Y1602Y NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 73 Ovarian(80;0.00965)|all_neural(38;0.0416) TGTCATAGCCGTAAGTCAGTC 0.398000 0 SO:0001819 synonymous_variant ENST00000253255.5 0 1 hg19 CCDS14073.1 TCGA-2J-AABF-01A-31D-A40W-08 PKDREJ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318466.1 0 0 0 4 201 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 0.885317 4 196 0 66 2 -2.890020 1 1 0 0 1 0 1 1 1.797465 1 0.310000 1.840000 0.193784 0.110000 0.030000 0.250000 0.110000 0.130680 0.110000 0 6.000000e-02 1.800000e-01 TPO 7173 broad.mit.edu 37 2 1497609 1497609 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:1497609C>T ENST00000345913.4 + 11 1895 c.1804C>T c.(1804-1806)Cgc>Tgc p.R602C TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGCCTGCCTCGCCTGGAGAC 0.572000 0 SO:0001583 missense ENST00000345913.4 1 1 hg19 CCDS1643.1 . . . . . . . . . . C 11.96 1.795939 0.31777 0.0 1.16E-4 ENSG00000115705 ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607 T;T;T;T;T;T;T;T;T 0.70869 -0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52 4.84 -0.86 0.10680 . 0.089088 0.64402 D 0.000001 D 0.84552 0.5497 H 0.94306 3.52 0.19300 N 0.999975 D;D;D;D 0.89917 1.0;0.967;1.0;1.0 D;B;D;D 0.78314 0.984;0.386;0.976;0.991 T 0.75462 -0.3309 10 0.87932 D 0 -13.2581 7.6609 0.28402 0.4098:0.4419:0.1484:0.0 . 602;429;545;602 P07202-4;P07202-5;P07202-2;P07202 .;.;.;PERT_HUMAN C 602;602;602;429;602;545;429;531;76 ENSP00000337263:R602C;ENSP00000318820:R602C;ENSP00000263886:R602C;ENSP00000332044:R429C;ENSP00000329869:R602C;ENSP00000371636:R545C;ENSP00000371633:R429C;ENSP00000405788:R531C;ENSP00000419461:R76C ENSP00000329869:R602C R + 1 0 TPO 1476616 0.002000 0.14202 0.000000 0.03702 0.088000 0.18126 1.273000 0.33121 -0.338000 0.08413 0.561000 0.74099 CGC TCGA-2J-AABF-01A-31D-A40W-08 TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206594.2 1 0 1 14 93 0 24 0 0 0 1 0 24 2 0 0 0 0 0 2 1 0.999784 14 90 0 24 2 -19.998640 1 1 0 0 1 0 0 0 1.870656 1 0.310000 1.840000 0.241842 0.760000 0.450000 1.000000 1.000000 0.770252 0.760000 0 5.900000e-01 9.600000e-01 SCN9A 6335 broad.mit.edu 37 2 167168078 167168078 + Silent SNP A A G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:167168078A>G ENST00000409435.1 - 1 188 c.189T>C c.(187-189)taT>taC p.Y63Y SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) GAATGTCCCCATAGATGAAGG 0.473000 0 SO:0001819 synonymous_variant ENST00000409435.1 1 1 hg19 CCDS46441.1 TCGA-2J-AABF-01A-31D-A40W-08 SCN9A-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000333639.1 1 0 0 20 225 0 86 0 6.246450e-02 0 5 0 86 2 0 0 0 0 0 2 1 0.999995 20 219 0 85 2 -20.000000 1 1 0 0 1 0 0 0 1.979556 0 0.310000 1.840000 0.283340 0.500000 0.320000 0.740000 0.500000 0.522677 0.500000 0 4.000000e-01 6.300000e-01 TTN 7273 broad.mit.edu 37 2 179587193 179587193 + Nonsense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:179587193G>A ENST00000591111.1 - 75 21594 c.21370C>T c.(21370-21372)Cga>Tga p.R7124* RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron Q8WZ42 TITIN_HUMAN titin p.R6197*(1) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATTTAATCGACAAGTGAGT 0.418000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000591111.1 0 1 hg19 . . . . . . . . . . G 58 31.894429 0.99979 . . ENSG00000155657 ENST00000342992 . . . 5.95 5.05 0.67936 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.87932 D 0 . 16.2951 0.82767 0.0:0.0:0.8666:0.1334 . . . . X 6197 . ENSP00000343764:R6197X R - 1 2 TTN 179295438 0.999000 0.42202 0.998000 0.56505 0.993000 0.82548 3.754000 0.55189 1.458000 0.47871 0.650000 0.86243 CGA TCGA-2J-AABF-01A-31D-A40W-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 1 0 0 42 276 0 84 0 0 0 0 84 2 0 0 0 0 0 2 1 1.000000 42 272 0 83 2 -18.107800 1 1 120830 1 32 1 0 0 0 1.979556 0 0.310000 1.840000 0.283340 0.810000 0.600000 1.000000 1.000000 0.823446 0.810000 0 7.000000e-01 9.400000e-01 PIKFYVE 200576 broad.mit.edu 37 2 209190426 209190426 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:209190426C>T ENST00000264380.4 + 20 3049 c.2891C>T c.(2890-2892)cCg>cTg p.P964L NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing p.P964L(1) 107 ACAGCTTGCCCGGCGGGTCTC 0.502000 1 Substitution - Missense(1) SO:0001583 missense ENST00000264380.4 1 1 hg19 CCDS2382.1 . . . . . . . . . . C 6.701 0.498060 0.12762 . . ENSG00000115020 ENST00000264380;ENST00000392200;ENST00000452564 T;T 0.27890 1.64;1.81 6.07 4.22 0.49857 . 0.284775 0.28187 N 0.016268 T 0.23926 0.0579 L 0.56769 1.78 0.52099 D 0.999943 B;B 0.28880 0.226;0.031 B;B 0.17098 0.017;0.006 T 0.05533 -1.0879 10 0.21014 T 0.42 -1.1002 6.4434 0.21863 0.1432:0.6971:0.0:0.1596 . 964;908 Q9Y2I7;E9PDH4 FYV1_HUMAN;. L 964;540;908 ENSP00000264380:P964L;ENSP00000405736:P908L ENSP00000264380:P964L P + 2 0 PIKFYVE 208898671 0.000000 0.05858 0.381000 0.26106 0.040000 0.13550 0.619000 0.24388 0.830000 0.34757 0.650000 0.86243 CCG TCGA-2J-AABF-01A-31D-A40W-08 PIKFYVE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256477.2 1 0 1 28 254 0 72 0 7.965796e-01 0 29 0 72 2 0 0 0 0 0 2 1 1.000000 27 245 0 71 2 -2.415705 0 1 121410 4 39 1 0 0 0 1.979556 0 0.310000 1.840000 0.283340 0.610000 0.420000 0.840000 0.620000 0.628554 0.610000 0 5.100000e-01 7.300000e-01 SPEG 10290 broad.mit.edu 37 2 220312960 220312960 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:220312960G>A ENST00000312358.7 + 4 1212 c.1080G>A c.(1078-1080)tcG>tcA p.S360S SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 100 Renal(207;0.0183) AGTCCAAGTCGTCCGGGCCCT 0.716000 0 SO:0001819 synonymous_variant ENST00000312358.7 1 1 hg19 CCDS42824.1 TCGA-2J-AABF-01A-31D-A40W-08 SPEG-004 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000130252.2 1 0 0 11 109 0 32 1 2.957465e-01 4 7 0 32 2 0 0 0 0 0 2 1 0.998525 11 108 0 32 2 -16.766610 1 1 0 0 1 0 0 0 1.979556 0 0.310000 1.840000 0.283340 0.570000 0.310000 0.920000 0.560000 0.597056 0.570000 0 4.300000e-01 7.500000e-01 TMEM17 200728 broad.mit.edu 37 2 62728450 62728450 + Missense_Mutation SNP T T G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:62728450T>G ENST00000335390.5 - 4 702 c.491A>C c.(490-492)aAa>aCa p.K164T NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) ATTAACCATTTTCCTTAAGGT 0.428000 0 SO:0001583 missense ENST00000335390.5 0 1 hg19 CCDS1871.1 . . . . . . . . . . T 9.813 1.183817 0.21870 . . ENSG00000186889 ENST00000335390 T 0.46451 0.87 5.6 4.46 0.54185 . 0.339048 0.37577 N 0.002032 T 0.23532 0.0569 N 0.17082 0.46 0.31589 N 0.654104 B 0.10296 0.003 B 0.15052 0.012 T 0.22556 -1.0213 10 0.15066 T 0.55 -10.2028 8.2015 0.31428 0.0:0.1897:0.0:0.8103 . 164 Q86X19 TMM17_HUMAN T 164 ENSP00000335094:K164T ENSP00000335094:K164T K - 2 0 TMEM17 62581954 1.000000 0.71417 0.999000 0.59377 0.987000 0.75469 1.866000 0.39489 0.988000 0.38734 0.528000 0.53228 AAA TCGA-2J-AABF-01A-31D-A40W-08 TMEM17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251618.3 0 0 0 8 336 0 106 0 9.857974e-02 0 20 0 106 2 0 0 0 0 0 2 1 0.989324 8 334 0 102 2 -3.468187 1 1 0 0 1 0 0 0 1.870656 1 0.310000 1.840000 0.241842 0.140000 0.060000 0.250000 0.140000 0.151342 0.140000 0 9.000000e-02 2.000000e-01 CTNNA2 1496 broad.mit.edu 37 2 80136879 80136879 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:80136879G>A ENST00000402739.4 + 6 1017 c.1012G>A c.(1012-1014)Gtg>Atg p.V338M CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M NM_001282597.1 NP_001269526.1 P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 p.V338M(2) 78 GTGCAACGCCGTGCGGCAGGC 0.597000 2 Substitution - Missense(2) SO:0001583 missense ENST00000402739.4 1 1 hg19 . . . . . . . . . . G 33 5.255998 0.95336 . . ENSG00000066032 ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488 T;T;T;T;T;T 0.40225 1.04;1.04;1.04;1.04;1.04;1.04 5.6 5.6 0.85130 . 0.077367 0.51477 D 0.000082 T 0.70386 0.3218 M 0.85630 2.765 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.998 D;D;D 0.79108 0.992;0.965;0.94 T 0.74819 -0.3535 10 0.87932 D 0 . 19.6081 0.95588 0.0:0.0:1.0:0.0 . 338;338;338 P26232;P26232-3;P26232-2 CTNA2_HUMAN;.;. M 338;338;372;338;338;338 ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M ENSP00000355398:V372M V + 1 0 CTNNA2 79990390 1.000000 0.71417 0.972000 0.41901 0.996000 0.88848 9.803000 0.99136 2.652000 0.90054 0.591000 0.81541 GTG TCGA-2J-AABF-01A-31D-A40W-08 CTNNA2-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000328511.4 1 0 1 20 156 0 60 0 0 0 1 0 60 2 0 0 0 0 0 2 1 0.999996 20 154 0 59 2 -20.000000 1 1 0 0 1 0 0 0 1.870656 1 0.310000 1.840000 0.241842 0.660000 0.420000 0.950000 0.660000 0.679359 0.660000 0 5.300000e-01 8.100000e-01 FAHD2B 151313 broad.mit.edu 37 2 97751522 97751522 + Missense_Mutation SNP C C T rs138523783 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:97751522C>T ENST00000414820.1 - 6 869 c.599G>A c.(598-600)cGc>cAc p.R200H FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 12 TTTCCCATTGCGTCTTGTTAG 0.597000 0 SO:0001583 missense ENST00000414820.1 1 1 hg19 CCDS2030.1 . . . . . . . . . . c 12.66 2.004787 0.35320 0.0 5.81E-4 ENSG00000144199 ENST00000414820;ENST00000272610;ENST00000440566 D;D;D 0.94758 -3.51;-3.51;-3.51 0.624 0.624 0.17659 Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1); 0.122834 0.49916 N 0.000132 D 0.94666 0.8280 M 0.62088 1.915 0.41529 D 0.988442 D 0.89917 1.0 D 0.74348 0.983 D 0.91640 0.5326 10 0.59425 D 0.04 . 3.009 0.06038 0.0:0.6463:0.0:0.3537 . 200 Q6P2I3 FAH2B_HUMAN H 200 ENSP00000410470:R200H;ENSP00000272610:R200H;ENSP00000444599:R200H ENSP00000272610:R200H R - 2 0 FAHD2B 97115249 0.695000 0.27747 0.493000 0.27502 0.135000 0.20990 2.196000 0.42686 0.587000 0.29643 0.306000 0.20318 CGC TCGA-2J-AABF-01A-31D-A40W-08 FAHD2B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339482.1 1 0 0 23 321 0 80 0 5.777530e-01 1 27 0 80 2 0 0 0 0 0 2 1 0.999999 22 312 0 79 2 -6.539878 1 1 121394 54 49 1 0 3 3 2.172384 1 0.310000 1.840000 0.342607 0.480000 0.300000 1.000000 0.450000 0.578885 0.480000 0 3.800000e-01 1 DRD3 1814 broad.mit.edu 37 3 113850098 113850098 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:113850098C>T ENST00000460779.1 - 7 1162 c.873G>A c.(871-873)gcG>gcA p.A291A DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Silent_p.A291A NM_001282563.1 NP_001269492.1 P35462 DRD3_HUMAN dopamine receptor D3 36 Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246) TGAGCTTGGGCGCTATGGTGG 0.542000 0 SO:0001819 synonymous_variant ENST00000460779.1 1 1 hg19 CCDS2978.1 TCGA-2J-AABF-01A-31D-A40W-08 DRD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354699.1 1 0 0 46 580 0 216 0 0 0 0 216 2 0 0 0 0 0 2 1 1.000000 46 568 0 215 2 -9.892280 1 1 121412 10 47 1 0 1 1 1.944136 0 0.310000 1.840000 0.259498 0.430000 0.320000 0.570000 0.440000 0.447865 0.430000 0 3.700000e-01 5.100000e-01 SLC41A3 54946 broad.mit.edu 37 3 125734346 125734346 + Missense_Mutation SNP C C T rs138712564 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:125734346C>T ENST00000315891.6 - 8 1199 c.961G>A c.(961-963)Gtc>Atc p.V321I SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I NM_001008485.1|NM_017836.3 NP_001008485|NP_060306.3 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 18 CCACATATGACGGGGGTAAAT 0.517000 0 SO:0001583 missense ENST00000315891.6 1 1 hg19 CCDS33843.1 . . . . . . . . . . C 5.067 0.198048 0.09652 0.0 3.49E-4 ENSG00000114544 ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835 T;T;T;T;T 0.29655 1.56;1.56;1.56;1.56;1.56 4.54 -0.338 0.12651 MgtE magnesium transporter, integral membrane (1); 0.251067 0.38326 N 0.001725 T 0.13884 0.0336 N 0.13327 0.33 0.40992 D 0.984868 B;B;B;B;B 0.30851 0.012;0.113;0.074;0.297;0.021 B;B;B;B;B 0.28305 0.021;0.062;0.036;0.088;0.023 T 0.10451 -1.0629 10 0.30854 T 0.27 -0.0495 7.2713 0.26258 0.0:0.4217:0.0:0.5783 . 204;321;285;321;295 B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7 .;.;.;S41A3_HUMAN;. I 321;285;295;312;321;204 ENSP00000353533:V321I;ENSP00000264471:V285I;ENSP00000373092:V295I;ENSP00000326070:V321I;ENSP00000427409:V204I ENSP00000326070:V321I V - 1 0 SLC41A3 127217036 0.137000 0.22531 0.054000 0.19295 0.012000 0.07955 0.556000 0.23438 -0.177000 0.10690 -0.218000 0.12543 GTC TCGA-2J-AABF-01A-31D-A40W-08 SLC41A3-024 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000370886.1 1 0 0 27 294 0 84 1 9.966904e-01 10 89 0 84 2 0 0 0 0 0 2 1 1.000000 27 291 0 80 2 -3.318789 1 1 121412 6 41 1 0 1 1 1.944136 0 0.310000 1.840000 0.259498 0.500000 0.340000 0.700000 0.500000 0.516512 0.500000 0 4.100000e-01 6.100000e-01 COL6A6 131873 broad.mit.edu 37 3 130287020 130287020 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:130287020G>A ENST00000358511.6 + 5 2004 c.1973G>A c.(1972-1974)cGg>cAg p.R658Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 p.R658L(1) 134 GGACCAGATCGGGTGCAAATT 0.413000 1 Substitution - Missense(1) SO:0001583 missense ENST00000358511.6 1 1 hg19 CCDS46911.1 . . . . . . . . . . G 3.023 -0.201344 0.06219 . . ENSG00000206384 ENST00000358511;ENST00000453409 T;T 0.78246 -1.16;-1.16 5.53 3.16 0.36331 von Willebrand factor, type A (3); 0.395727 0.21379 N 0.075504 T 0.58736 0.2143 L 0.28014 0.82 0.09310 N 1 B 0.14438 0.01 B 0.06405 0.002 T 0.35450 -0.9788 10 0.12103 T 0.63 . 6.1506 0.20310 0.4135:0.0:0.5865:0.0 . 658 A6NMZ7 CO6A6_HUMAN Q 658 ENSP00000351310:R658Q;ENSP00000399236:R658Q ENSP00000351310:R658Q R + 2 0 COL6A6 131769710 0.000000 0.05858 0.128000 0.21923 0.040000 0.13550 0.092000 0.15066 1.096000 0.41439 0.655000 0.94253 CGG TCGA-2J-AABF-01A-31D-A40W-08 COL6A6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000356705.5 1 0 0 37 455 0 155 0 6.060606e-03 0 2 0 155 2 0 0 0 0 0 2 1 1.000000 37 449 0 152 2 -2.458455 0 1 120836 2 37 1 0 1 1 1.944136 0 0.310000 1.840000 0.259498 0.450000 0.320000 0.600000 0.450000 0.459754 0.450000 0 3.800000e-01 5.300000e-01 SLC25A38 54977 broad.mit.edu 37 3 39431021 39431021 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:39431021C>T ENST00000273158.4 + 2 482 c.105C>T c.(103-105)tcC>tcT p.S35S NM_017875.2 NP_060345.2 solute carrier family 25, member 38 11 TGTGTGGCTCCATCAGTGGGA 0.512000 0 SO:0001819 synonymous_variant ENST00000273158.4 1 1 hg19 CCDS2685.1 TCGA-2J-AABF-01A-31D-A40W-08 SLC25A38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254057.3 0 0 0 19 307 1 137 1 7.263826e-01 7 77 1 137 4 0 0 0 0 0 2 1 0.999989 19 299 0 134 2 -2.878425 1 1 0 0 1 0 1 1 1.921193 0 0.310000 1.840000 0.253287 0.340000 0.210000 0.510000 0.340000 0.360236 0.340000 0 2.700000e-01 4.300000e-01 GABRB1 2560 broad.mit.edu 37 4 47427807 47427807 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr4:47427807C>T ENST00000295454.3 + 9 1489 c.1197C>T c.(1195-1197)agC>agT p.S399S GABRB1_ENST00000538619.1_Silent_p.S329S NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 44 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) CCTATGACAGCGCCAGCATCC 0.657000 0 SO:0001819 synonymous_variant ENST00000295454.3 1 1 hg19 CCDS3474.1 TCGA-2J-AABF-01A-31D-A40W-08 GABRB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216896.1 1 0 1 22 184 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 0.999999 22 180 0 54 2 -20.000000 1 1 0 0 1 0 1 1 1.941065 0 0.310000 1.840000 0.261953 0.640000 0.420000 0.910000 0.630000 0.657425 0.640000 0 5.200000e-01 7.800000e-01 CRMP1 1400 broad.mit.edu 37 4 5830236 5830236 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr4:5830236G>A ENST00000397890.2 - 12 1655 c.1441C>T c.(1441-1443)Cgc>Tgc p.R481C CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C NM_001313.3 NP_001304.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 36 ATTTTGACGCGCTGGTACAGG 0.592000 0 SO:0001583 missense ENST00000397890.2 1 1 hg19 CCDS43207.1 . . . . . . . . . . G 23.1 4.378726 0.82682 . . ENSG00000072832 ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574 D;D;D 0.87029 -2.2;-2.13;-2.13 4.33 4.33 0.51752 . 0.000000 0.85682 D 0.000000 D 0.94000 0.8078 M 0.87456 2.885 0.80722 D 1 D;D;D;D 0.89917 0.99;0.995;0.99;1.0 P;P;P;D 0.97110 0.839;0.636;0.807;1.0 D 0.95043 0.8180 10 0.72032 D 0.01 -32.1342 15.9993 0.80280 0.0:0.0:1.0:0.0 . 595;479;481;418 A0EJG6;E9PD68;Q14194;B3KT07 .;.;DPYL1_HUMAN;. C 595;481;481;479 ENSP00000321606:R595C;ENSP00000380987:R481C;ENSP00000425742:R479C ENSP00000321606:R595C R - 1 0 CRMP1 5881137 1.000000 0.71417 1.000000 0.80357 0.666000 0.39218 9.184000 0.94893 2.245000 0.73994 0.561000 0.74099 CGC TCGA-2J-AABF-01A-31D-A40W-08 CRMP1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358871.1 1 0 0 7 116 0 24 0 8.392235e-01 0 58 0 24 2 0 0 0 0 0 2 1 0.978014 7 111 0 24 2 -10.583090 1 1 0 0 1 0 1 1 1.941065 0 0.310000 1.840000 0.261953 0.350000 0.160000 0.640000 0.330000 0.377244 0.350000 0 2.400000e-01 5.000000e-01 APC 324 broad.mit.edu 37 5 112175046 112175046 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr5:112175046C>A ENST00000457016.1 + 16 4135 c.3755C>A c.(3754-3756)tCt>tAt p.S1252Y APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli p.K1192fs*3(1)|p.?(1) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) TGCAAAGTTTCTTCTATTAAC 0.393000 12 D, Mis, N, F, S colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) yes Rec yes Adenomatous polyposis coli; Turcot syndrome 5 5q21 324 adenomatous polyposis of the colon gene E, M, O 2 Unknown(1)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s, ENST00000457016.1 1 1 hg19 CCDS4107.1 . . . . . . . . . . C 10.98 1.503801 0.26949 . . ENSG00000134982 ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211 D;D;D;D 0.90444 -2.49;-2.49;-2.49;-2.67 5.83 5.83 0.93111 . 0.153741 0.45606 D 0.000360 T 0.80954 0.4723 N 0.08118 0 0.22803 N 0.998713 B;B 0.13145 0.0;0.007 B;B 0.08055 0.0;0.003 T 0.62515 -0.6838 9 . . . -1.3032 16.4069 0.83677 0.132:0.868:0.0:0.0 . 1254;1252 Q4LE70;P25054 .;APC_HUMAN Y 1252 ENSP00000413133:S1252Y;ENSP00000257430:S1252Y;ENSP00000427089:S1252Y;ENSP00000423828:S1252Y . S + 2 0 APC 112202945 0.994000 0.37717 0.997000 0.53966 0.982000 0.71751 5.284000 0.65627 2.756000 0.94617 0.655000 0.94253 TCT TCGA-2J-AABF-01A-31D-A40W-08 APC-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250738.2 1 0 0 13 183 1 74 0 3.385358e-01 1 16 1 74 2 0 0 0 0 0 2 1 0.731619 13 183 1 73 11 -17.055120 1 1 0 0 1 0 1 1 1.925290 0 0.310000 1.840000 0.266815 0.400000 0.230000 0.640000 0.400000 0.423317 0.400000 0 3.100000e-01 5.300000e-01 TRDN 10345 broad.mit.edu 37 6 123869741 123869741 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr6:123869741C>A ENST00000398178.3 - 3 270 c.249G>T c.(247-249)aaG>aaT p.K83N TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000334268.4_Missense_Mutation_p.K83N NM_006073.3 NP_006064.2 Q13061 TRDN_HUMAN triadin 41 CTGAGCCAATCTTGGCAATAG 0.333000 0 SO:0001583 missense ENST00000398178.3 0 1 hg19 CCDS55053.1 . . . . . . . . . . C 15.51 2.855645 0.51376 . . ENSG00000186439 ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443 T;T;T;T 0.68331 1.24;1.24;1.24;-0.32 5.29 4.42 0.53409 Aspartyl beta-hydroxylase/Triadin domain (1); 0.207799 0.41294 D 0.000910 T 0.76076 0.3937 M 0.83012 2.62 0.32517 N 0.536805 D;D;D;D;D 0.89917 1.0;1.0;0.993;0.993;0.993 D;D;D;D;D 0.83275 0.996;0.996;0.911;0.911;0.934 T 0.79431 -0.1806 10 0.72032 D 0.01 -3.8587 12.1537 0.54064 0.0:0.9204:0.0:0.0796 . 83;83;83;83;83 F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061 .;.;.;.;TRDN_HUMAN N 83 ENSP00000381240:K83N;ENSP00000333984:K83N;ENSP00000439281:K83N;ENSP00000437684:K83N ENSP00000333984:K83N K - 3 2 TRDN 123911440 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 2.278000 0.43426 1.216000 0.43427 0.655000 0.94253 AAG TCGA-2J-AABF-01A-31D-A40W-08 TRDN-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 0 0 0 3 34 0 10 0 0 0 0 10 2 0 0 0 0 0 2 1 0.803878 3 33 0 10 2 -8.175540 1 1 0 0 1 0 1 1 2.049205 0 0.310000 1.840000 0.308929 0.570000 0.170000 1.000000 1.000000 0.601287 0.570000 0 3.300000e-01 8.900000e-01 CADPS2 93664 broad.mit.edu 37 7 122377080 122377080 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:122377080C>A ENST00000449022.2 - 2 401 c.382G>T c.(382-384)Gcc>Tcc p.A128S CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S NM_017954.10 NP_060424.9 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 43 TTGAGGAAGGCCTGGAACCGT 0.383000 0 SO:0001583 missense ENST00000449022.2 1 1 hg19 CCDS55158.1 . . . . . . . . . . C 11.11 1.542347 0.27563 . . ENSG00000081803 ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022 T;T;T;T 0.80653 -1.4;-1.4;-1.4;-1.4 5.64 5.64 0.86602 . 0.176929 0.49305 D 0.000151 T 0.60573 0.2279 N 0.05259 -0.085 0.53688 D 0.99997 B;B 0.25351 0.003;0.124 B;B 0.17979 0.014;0.02 T 0.59456 -0.7451 10 0.13853 T 0.58 -8.3102 13.6306 0.62193 0.1547:0.8453:0.0:0.0 . 128;128 Q86UW7-2;Q86UW7 .;CAPS2_HUMAN S 128;128;128;95;128;128 ENSP00000325581:A128S;ENSP00000333940:A128S;ENSP00000400401:A128S;ENSP00000398481:A128S ENSP00000325581:A128S A - 1 0 CADPS2 122164316 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 3.736000 0.55052 2.631000 0.89168 0.585000 0.79938 GCC TCGA-2J-AABF-01A-31D-A40W-08 CADPS2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000347414.2 1 0 0 13 177 0 47 1 5.592725e-01 5 21 0 47 2 0 0 0 0 0 2 1 0.999546 13 174 0 45 2 -6.009493 1 1 0 0 1 1 2 3 2.107667 0 0.310000 1.840000 0.320532 0.470000 0.260000 1.000000 0.440000 0.515091 0.470000 0 3.500000e-01 6.500000e-01 TBX20 57057 broad.mit.edu 37 7 35293131 35293131 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:35293131G>A ENST00000408931.3 - 1 627 c.101C>T c.(100-102)gCg>gTg p.A34V NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 18 GTTCTCCGTCGCCTCCTTCTC 0.647000 0 SO:0001583 missense ENST00000408931.3 0 1 hg19 CCDS43568.1 . . . . . . . . . . G 14.32 2.501515 0.44455 . . ENSG00000164532 ENST00000408931 D 0.87809 -2.3 5.35 4.39 0.52855 . 0.505372 0.22454 N 0.059858 T 0.72399 0.3455 N 0.08118 0 0.09310 N 0.999998 B 0.27971 0.196 B 0.15052 0.012 T 0.60286 -0.7293 10 0.30078 T 0.28 . 12.1051 0.53807 0.0936:0.0:0.9064:0.0 . 34 Q9UMR3 TBX20_HUMAN V 34 ENSP00000386170:A34V ENSP00000386170:A34V A - 2 0 TBX20 35259656 0.532000 0.26346 0.486000 0.27416 0.955000 0.61496 3.672000 0.54583 1.099000 0.41499 0.462000 0.41574 GCG TCGA-2J-AABF-01A-31D-A40W-08 TBX20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216870.2 1 0 0 6 86 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 0.964269 6 84 0 32 2 -10.285540 1 1 0 0 1 1 2 3 2.104019 0 0.310000 1.840000 0.320532 0.470000 0.190000 1.000000 0.420000 0.518589 0.470000 0 3.100000e-01 7.300000e-01 SDK1 221935 broad.mit.edu 37 7 4185464 4185464 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:4185464G>A ENST00000404826.2 + 29 4478 c.4339G>A c.(4339-4341)Gca>Aca p.A1447T SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) CCCGGAGTCCGCATACATCTT 0.662000 0 SO:0001583 missense ENST00000404826.2 0 1 hg19 CCDS34590.1 . . . . . . . . . . G 13.37 2.217704 0.39201 0.0 2.33E-4 ENSG00000146555 ENST00000404826;ENST00000389531 T;T 0.56103 0.48;0.48 4.96 4.96 0.65561 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.64402 D 0.000002 T 0.31327 0.0793 N 0.04090 -0.28 0.27196 N 0.960291 P;P 0.52692 0.526;0.955 B;P 0.45343 0.138;0.477 T 0.11227 -1.0596 10 0.20519 T 0.43 . 10.7984 0.46474 0.0865:0.0:0.9135:0.0 . 1447;1447 F8W6X9;Q7Z5N4 .;SDK1_HUMAN T 1447 ENSP00000385899:A1447T;ENSP00000374182:A1447T ENSP00000374182:A1447T A + 1 0 SDK1 4151990 0.978000 0.34361 0.687000 0.30102 0.880000 0.50808 3.755000 0.55197 2.296000 0.77279 0.462000 0.41574 GCA TCGA-2J-AABF-01A-31D-A40W-08 SDK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323702.1 0 0 0 5 257 1 52 0 1.005877e-02 0 18 1 52 3 0 0 0 0 0 2 0 0.005992 5 251 1 51 17 -2.472564 0 1 121412 22 45 1 1 2 3 2.131617 0 0.310000 1.840000 0.324655 0.140000 0.040000 1.000000 0.130000 0.243644 0.140000 0 8.000000e-02 2.600000e-01 OGDH 4967 broad.mit.edu 37 7 44747283 44747283 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:44747283G>A ENST00000222673.5 + 22 2941 c.2899G>A c.(2899-2901)Gac>Aac p.D967N OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 36 Valproic Acid(DB00313) AGGCTACTATGACTACGTGAA 0.602000 0 SO:0001583 missense ENST00000222673.5 0 1 hg19 CCDS34627.1 . . . . . . . . . . G 21.5 4.163705 0.78226 . . ENSG00000105953 ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843 T;T;T;T;T;T 0.12039 2.72;2.72;2.72;2.72;2.72;2.72 5.46 5.46 0.80206 . 0.045701 0.85682 D 0.000000 T 0.11495 0.0280 N 0.17278 0.47 0.80722 D 1 B;B;B;B;B 0.13145 0.002;0.007;0.001;0.002;0.002 B;B;B;B;B 0.12837 0.003;0.003;0.003;0.008;0.003 T 0.11494 -1.0585 10 0.42905 T 0.14 -41.9842 18.9009 0.92442 0.0:0.0:1.0:0.0 . 762;817;963;978;967 B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218 .;.;.;.;ODO1_HUMAN N 817;963;978;982;967;918 ENSP00000398576:D817N;ENSP00000392878:D963N;ENSP00000388183:D978N;ENSP00000414662:D982N;ENSP00000222673:D967N;ENSP00000443821:D918N ENSP00000222673:D967N D + 1 0 OGDH 44713808 1.000000 0.71417 0.998000 0.56505 0.985000 0.73830 7.889000 0.87307 2.560000 0.86352 0.491000 0.48974 GAC TCGA-2J-AABF-01A-31D-A40W-08 OGDH-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000339391.1 0 0 0 7 319 0 76 1 9.872171e-01 8 354 0 76 2 0 0 0 0 0 2 1 0.980471 7 317 0 76 2 -7.418161 1 1 0 0 1 1 2 3 2.104019 0 0.310000 1.840000 0.320532 0.150000 0.060000 1.000000 0.140000 0.226818 0.150000 0 1.000000e-01 2.400000e-01 WBSCR17 64409 broad.mit.edu 37 7 71130456 71130456 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:71130456C>T ENST00000333538.5 + 7 1775 c.1141C>T c.(1141-1143)Cgg>Tgg p.R381W WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCACATTGAGCGGAAGAAGAA 0.488000 0 SO:0001583 missense ENST00000333538.5 0 1 hg19 CCDS5540.1 . . . . . . . . . . C 20.7 4.033947 0.75504 . . ENSG00000185274 ENST00000333538 T 0.69175 -0.38 5.85 1.83 0.25207 . 0.000000 0.85682 D 0.000000 D 0.88526 0.6460 H 0.98936 4.375 0.58432 D 0.999999 D 0.89917 1.0 D 0.87578 0.998 D 0.92381 0.5913 10 0.87932 D 0 . 15.3575 0.74440 0.6063:0.3937:0.0:0.0 . 381 Q6IS24 GLTL3_HUMAN W 381 ENSP00000329654:R381W ENSP00000329654:R381W R + 1 2 WBSCR17 70768392 0.877000 0.30153 1.000000 0.80357 0.987000 0.75469 1.218000 0.32467 0.362000 0.24319 -0.261000 0.10672 CGG TCGA-2J-AABF-01A-31D-A40W-08 WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252006.1 0 0 0 7 364 0 74 0 9.916344e-03 0 7 0 74 2 0 0 0 0 0 2 1 0.980279 7 361 0 72 2 -3.100343 1 1 121412 4 37 1 1 2 3 2.104019 0 0.310000 1.840000 0.320532 0.130000 0.050000 1.000000 0.130000 0.209315 0.130000 0 8.000000e-02 2.100000e-01 MLXIPL 51085 broad.mit.edu 37 7 73010006 73010006 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:73010006G>A ENST00000313375.3 - 15 2318 c.2271C>T c.(2269-2271)taC>taT p.Y757Y MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 MLXPL_HUMAN MLX interacting protein-like 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGTTCGGACGTAGTCATCAA 0.632000 0 SO:0001819 synonymous_variant ENST00000313375.3 1 1 hg19 CCDS5553.1 TCGA-2J-AABF-01A-31D-A40W-08 MLXIPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252262.1 1 0 0 11 144 0 33 0 9.421377e-01 0 67 0 33 2 0 0 0 0 0 2 1 0.998357 11 141 0 32 2 -15.307080 1 1 121398 2 37 1 1 2 3 2.104019 0 0.310000 1.840000 0.320532 0.490000 0.250000 1.000000 0.460000 0.534831 0.490000 0 3.600000e-01 6.900000e-01 HEATR2 54919 broad.mit.edu 37 7 794231 794231 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:794231C>T ENST00000297440.6 + 5 1050 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 22 Ovarian(82;0.0112) TCCAGAGCGCCGCCCTGTGCT 0.547000 0 SO:0001583 missense ENST00000297440.6 1 1 hg19 CCDS34580.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 17.25|17.25 3.342614|3.342614 0.61073|0.61073 .|. .|. ENSG00000164818|ENSG00000164818 ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862 .|T;T .|0.73789 .|-0.78;-0.77 5.56|5.56 5.56|5.56 0.83823|0.83823 .|Armadillo-like helical (1);Armadillo-type fold (1); .|0.130641 .|0.52532 .|D .|0.000078 D|D 0.86581|0.86581 0.5967|0.5967 M|M 0.83953|0.83953 2.67|2.67 0.80722|0.80722 D|D 1|1 .|D;D .|0.89917 .|1.0;1.0 .|D;D .|0.80764 .|0.986;0.994 D|D 0.88188|0.88188 0.2875|0.2875 5|10 .|0.87932 .|D .|0 -46.9262|-46.9262 14.3636|14.3636 0.66789|0.66789 0.1481:0.8519:0.0:0.0|0.1481:0.8519:0.0:0.0 .|. .|344;90 .|Q86Y56;F5H8D4 .|HEAT2_HUMAN;. L|C 116;145|344;344;90 .|ENSP00000297440:R344C;ENSP00000321451:R344C .|ENSP00000297440:R344C P|R +|+ 2|1 0|0 HEATR2|HEATR2 760757|760757 1.000000|1.000000 0.71417|0.71417 0.952000|0.952000 0.39060|0.39060 0.044000|0.044000 0.14063|0.14063 5.258000|5.258000 0.65479|0.65479 2.603000|2.603000 0.88011|0.88011 0.561000|0.561000 0.74099|0.74099 CCG|CGC TCGA-2J-AABF-01A-31D-A40W-08 HEATR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322542.1 1 0 0 61 656 0 187 0 6.637700e-01 0 26 0 187 2 0 0 0 0 0 2 1 1.000000 61 645 0 183 2 -14.755810 1 0 0 0 1 1 2 3 2.131617 0 0.310000 1.840000 0.324655 0.570000 0.430000 1.000000 0.560000 0.615106 0.570000 0 4.900000e-01 6.800000e-01 PEG10 23089 broad.mit.edu 37 7 94293374 94293374 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:94293374G>A ENST00000482108.1 + 2 985 c.506G>A c.(505-507)cGc>cAc p.R169H PEG10_ENST00000488574.1_Missense_Mutation_p.R169H NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GTTGCCAAACGCAAGATCAGA 0.542000 0 SO:0001583 missense ENST00000482108.1 1 1 hg19 CCDS55126.1 . . . . . . . . . . G 16.23 3.064561 0.55432 . . ENSG00000242265 ENST00000482108;ENST00000488574 T;T 0.14766 2.48;2.48 4.05 4.05 0.47172 Retrotransposon gag protein (1); . . . . T 0.26195 0.0639 L 0.35854 1.095 0.25927 N 0.983049 D;D 0.89917 0.999;1.0 D;D 0.81914 0.971;0.995 T 0.03287 -1.1052 9 0.48119 T 0.1 . 11.9358 0.52872 0.0:0.0:1.0:0.0 . 245;169 B4DSP0;Q86TG7 .;PEG10_HUMAN H 169 ENSP00000417587:R169H;ENSP00000418944:R169H ENSP00000417587:R169H R + 2 0 PEG10 94131310 0.999000 0.42202 1.000000 0.80357 0.917000 0.54804 2.457000 0.45005 2.276000 0.75962 0.555000 0.69702 CGC TCGA-2J-AABF-01A-31D-A40W-08 PEG10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340751.1 0 0 1 103 495 1 149 0 6.833320e-01 1 12 1 149 2 0 0 0 0 0 2 1 1.000000 102 487 1 148 15 -20.000000 1 1 0 0 1 1 2 3 2.094140 0 0.310000 1.840000 0.318451 0.990000 0.930000 1.000000 1.000000 0.995948 0.990000 1 9.900000e-01 1 PABPC1 26986 broad.mit.edu 37 8 101730449 101730449 + Missense_Mutation SNP T T A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 T A T T Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:101730449T>A ENST00000318607.5 - 2 1381 c.253A>T c.(253-255)Atg>Ttg p.M85L PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGAGACCACATGATGCGTACT 0.398000 0 SO:0001583 missense ENST00000318607.5 0 1 hg19 CCDS6289.1 . . . . . . . . . . T 32 5.114517 0.94339 . . ENSG00000070756 ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142 T;T;T;T;T;T 0.05580 3.42;3.42;3.42;3.42;3.42;3.42 5.37 5.37 0.77165 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2); 0.000000 0.85682 D 0.000000 T 0.10294 0.0252 N 0.25245 0.725 0.58432 D 0.999995 P;P;P 0.42584 0.784;0.784;0.784 B;B;P 0.49953 0.188;0.387;0.627 T 0.09509 -1.0671 10 0.72032 D 0.01 . 15.6618 0.77193 0.0:0.0:0.0:1.0 . 85;85;85 E7ERJ7;B3KT93;P11940 .;.;PABP1_HUMAN L 85;85;40;85;40;85;85 ENSP00000313007:M85L;ENSP00000429594:M40L;ENSP00000429395:M85L;ENSP00000430159:M40L;ENSP00000429119:M85L;ENSP00000430012:M85L ENSP00000313007:M85L M - 1 0 PABPC1 101799625 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.020000 0.88740 2.167000 0.68274 0.528000 0.53228 ATG TCGA-2J-AABF-01A-31D-A40W-08 PABPC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380217.1 0 0 0 4 182 0 48 0 9.994862e-01 0 985 0 48 2 0 0 0 0 0 2 1 0.888714 4 180 0 47 2 -3.399790 1 1 0 0 1 1 2 3 2.071426 0 0.310000 1.840000 0.314252 0.150000 0.050000 1.000000 0.140000 0.194506 0.150000 0 9.000000e-02 2.500000e-01 CHRNA2 1135 broad.mit.edu 37 8 27320780 27320780 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:27320780G>A ENST00000520933.2 - 5 1333 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 23 Ovarian(32;2.61e-05) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339) AGCTTCAGGCGTAGGGGGTGG 0.667000 0 SO:0001583 missense ENST00000520933.2 1 1 hg19 CCDS6059.1 . . . . . . . . . . G 4.877 0.162980 0.09287 . . ENSG00000120903 ENST00000407991;ENST00000520933;ENST00000240132 T;T;T 0.71222 -0.55;-0.55;-0.55 5.03 3.25 0.37280 Neurotransmitter-gated ion-channel transmembrane domain (2); 1.230070 0.05296 N 0.522105 T 0.68933 0.3055 M 0.76433 2.335 0.09310 N 1 P;B 0.48089 0.905;0.108 B;B 0.36719 0.231;0.03 T 0.58205 -0.7677 10 0.56958 D 0.05 . 8.6291 0.33908 0.0:0.7597:0.1553:0.085 . 379;394 B4DK19;Q15822 .;ACHA2_HUMAN C 394;394;379 ENSP00000385026:R394C;ENSP00000429616:R394C;ENSP00000240132:R379C ENSP00000240132:R379C R - 1 0 CHRNA2 27376697 0.001000 0.12720 0.002000 0.10522 0.000000 0.00434 1.600000 0.36762 0.720000 0.32209 -1.021000 0.02439 CGC TCGA-2J-AABF-01A-31D-A40W-08 CHRNA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376125.4 1 0 0 12 197 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.999072 11 193 0 49 2 -15.002360 1 1 0 0 1 1 2 3 2.071426 0 0.310000 1.840000 0.314252 0.380000 0.200000 1.000000 0.370000 0.413193 0.380000 0 2.800000e-01 5.100000e-01 KCNB2 9312 broad.mit.edu 37 8 73480145 73480145 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:73480145C>T ENST00000523207.1 + 2 764 c.176C>T c.(175-177)aCg>aTg p.T59M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 85 Breast(64;0.137) Epithelial(68;0.105) Dalfampridine(DB06637) CTGCCCAGGACGCGCCTGGGG 0.537000 0 SO:0001583 missense ENST00000523207.1 1 1 hg19 CCDS6209.1 . . . . . . . . . . C 29.4 5.004318 0.93287 . . ENSG00000182674 ENST00000523207 D 0.82081 -1.57 5.71 5.71 0.89125 BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1); . . . . D 0.93877 0.8041 M 0.93328 3.405 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.94789 0.7960 9 0.87932 D 0 . 19.8677 0.96824 0.0:1.0:0.0:0.0 . 59 Q92953 KCNB2_HUMAN M 59 ENSP00000430846:T59M ENSP00000430846:T59M T + 2 0 KCNB2 73642699 1.000000 0.71417 0.950000 0.38849 0.986000 0.74619 7.818000 0.86416 2.709000 0.92574 0.655000 0.94253 ACG TCGA-2J-AABF-01A-31D-A40W-08 KCNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378998.1 1 0 0 18 344 0 76 0 3.658075e-02 0 6 0 76 2 0 0 0 0 0 2 1 0.999978 18 333 0 73 2 -2.970177 1 1 0 0 1 1 2 3 2.071426 0 0.310000 1.840000 0.314252 0.320000 0.190000 1.000000 0.320000 0.355901 0.320000 0 2.500000e-01 4.200000e-01 CNBD1 168975 broad.mit.edu 37 8 88249204 88249204 + Missense_Mutation SNP A A G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:88249204A>G ENST00000518476.1 + 6 686 c.635A>G c.(634-636)aAc>aGc p.N212S CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 32 CCTCAAACAAACGTGTATAAA 0.368000 0 SO:0001583 missense ENST00000518476.1 1 1 hg19 CCDS55259.1 . . . . . . . . . . A 3.275 -0.148197 0.06627 . . ENSG00000176571 ENST00000518476 T 0.16743 2.32 4.29 -2.76 0.05896 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1); 1.950470 0.02259 N 0.067417 T 0.07773 0.0195 N 0.08118 0 0.09310 N 1 B 0.09022 0.002 B 0.08055 0.003 T 0.25502 -1.0130 10 0.12103 T 0.63 0.0587 5.5245 0.16951 0.3422:0.4741:0.1837:0.0 . 212 Q8NA66 CNBD1_HUMAN S 212 ENSP00000430073:N212S ENSP00000430073:N212S N + 2 0 CNBD1 88318320 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 0.060000 0.14342 -0.458000 0.07023 0.533000 0.62120 AAC TCGA-2J-AABF-01A-31D-A40W-08 CNBD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375113.2 1 0 0 27 334 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 1.000000 27 328 0 91 2 -8.399606 1 1 0 0 1 1 2 3 2.071426 0 0.310000 1.840000 0.314252 0.490000 0.330000 1.000000 0.490000 0.512170 0.490000 0 4.000000e-01 6.000000e-01 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1474 Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1) GRCh37 CM014695 CDKN2A M rs121913388 SO:0001587 stop_gained ENST00000304494.5 0 1 hg19 CCDS6510.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 39|39 7.328457|7.328457 0.98214|0.98214 .|. .|. ENSG00000147889|ENSG00000147889 ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177 D;D|. 0.86497|. -2.13;-2.02|. 5.93|5.93 5.01|5.01 0.66863|0.66863 .|. 0.000000|. 0.37136|. N|. 0.002233|. T|. 0.44561|. 0.1299|. L|L 0.36672|0.36672 1.1|1.1 0.47511|0.47511 D|D 0.999443|0.999443 D|. 0.59357|. 0.985|. B|. 0.40602|. 0.334|. T|. 0.34825|. -0.9813|. 10|. 0.13108|0.02654 T|T 0.6|1 -2.989|-2.989 8.7197|8.7197 0.34434|0.34434 0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526 .|. 135|. Q8N726|. CD2A2_HUMAN|. L|X 135;94|80 ENSP00000355153:P135L;ENSP00000432664:P94L|. ENSP00000355153:P135L|ENSP00000307101:R80X P|R -|- 2|1 0|2 CDKN2A|CDKN2A 21961120|21961120 0.995000|0.995000 0.38212|0.38212 1.000000|1.000000 0.80357|0.80357 0.899000|0.899000 0.52679|0.52679 2.363000|2.363000 0.44178|0.44178 1.464000|1.464000 0.47987|0.47987 0.650000|0.650000 0.86243|0.86243 CCG|CGA TCGA-2J-AABF-01A-31D-A40W-08 CDKN2A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000051915.1 1 0 0 20 67 0 15 1 9.999877e-01 44 28 0 15 2 1 9.999999e-01 21 91 0 186 2 1 0.999979 15 53 0 11 2 -3.409088 1 1 0 0 1 0 1 1 1.763780 1 0.310000 1.840000 0.190853 0.950000 0.700000 1.000000 1.000000 0.928024 0.950000 1 8.300000e-01 1 PHKA2 5256 broad.mit.edu 37 X 18961884 18961884 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:18961884G>A ENST00000379942.4 - 7 1326 c.661C>T c.(661-663)Cat>Tat p.H221Y NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 61 Hepatocellular(33;0.183) CGTCCTCCATGGGCTCCAAAA 0.458000 0 SO:0001583 missense ENST00000379942.4 0 1 hg19 CCDS14190.1 . . . . . . . . . . G 14.58 2.579135 0.46006 . . ENSG00000044446 ENST00000379942 D 0.88975 -2.45 5.43 4.57 0.56435 Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1); 0.141328 0.64402 N 0.000005 D 0.86973 0.6062 M 0.72894 2.215 0.53005 D 0.999968 B 0.02656 0.0 B 0.10450 0.005 T 0.82733 -0.0311 10 0.49607 T 0.09 -6.0265 9.6509 0.39897 0.0781:0.1382:0.7837:0.0 . 221 P46019 KPB2_HUMAN Y 221 ENSP00000369274:H221Y ENSP00000369274:H221Y H - 1 0 PHKA2 18871805 1.000000 0.71417 0.978000 0.43139 0.979000 0.70002 3.915000 0.56409 1.067000 0.40740 0.600000 0.82982 CAT TCGA-2J-AABF-01A-31D-A40W-08 PHKA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055960.1 0 0 0 9 355 0 79 0 1.059574e-01 0 20 0 79 2 0 0 0 0 0 2 1 0.993914 9 349 0 78 2 -2.376369 0 1 0 0 1 0 1 1 0.310000 1.840000 0.310000 0.070000 0.030000 0.140000 0.080000 0.087591 0.070000 0 5.000000e-02 1.100000e-01 ZNF182 7569 broad.mit.edu 37 X 47835701 47835701 + Missense_Mutation SNP C C G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:47835701C>G ENST00000396965.1 - 7 2135 c.1785G>C c.(1783-1785)gaG>gaC p.E595D ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 p.E595D(1)|p.E576D(1) 22 TATAGGGTTTCTCTCCAGTAT 0.443000 2 Substitution - Missense(2) SO:0001583 missense ENST00000396965.1 1 1 hg19 CCDS35236.1 . . . . . . . . . . C 13.97 2.395798 0.42512 . . ENSG00000147118 ENST00000376943;ENST00000396965;ENST00000305127 T;T;T 0.26810 1.71;1.71;1.71 4.86 4.86 0.63082 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.40247 0.1109 L 0.48935 1.535 0.34356 D 0.690386 D;P;D 0.60575 0.987;0.861;0.988 P;P;P 0.59595 0.857;0.795;0.86 T 0.53648 -0.8409 9 0.66056 D 0.02 . 14.5199 0.67844 0.0:1.0:0.0:0.0 . 575;576;595 B4DRM0;Q96QH7;P17025 .;.;ZN182_HUMAN D 576;595;595 ENSP00000366142:E576D;ENSP00000380165:E595D;ENSP00000306351:E595D ENSP00000306351:E595D E - 3 2 ZNF182 47720645 1.000000 0.71417 1.000000 0.80357 0.972000 0.66771 1.087000 0.30865 2.397000 0.81536 0.544000 0.68410 GAG TCGA-2J-AABF-01A-31D-A40W-08 ZNF182-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277055.1 1 0 0 31 192 0 66 1 8.278654e-01 4 18 0 66 2 0 0 0 0 0 2 1 1.000000 30 188 0 64 2 -15.484660 1 1 0 0 1 0 1 1 0.310000 1.840000 0.310000 0.440000 0.310000 0.600000 0.440000 0.454222 0.440000 0 3.700000e-01 5.300000e-01 BRWD3 254065 broad.mit.edu 37 X 79938009 79938009 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:79938009C>T ENST00000373275.4 - 38 4568 c.4352G>A c.(4351-4353)cGt>cAt p.R1451H BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 87 GCTTCTTAGACGTTTTCTGTA 0.368000 0 SO:0001583 missense ENST00000373275.4 1 1 hg19 CCDS14447.1 . . . . . . . . . . C 29.7 5.031405 0.93575 . . ENSG00000165288 ENST00000373275 T 0.57595 0.39 4.82 4.82 0.62117 . 0.000000 0.85682 D 0.000000 T 0.63307 0.2500 L 0.38175 1.15 0.51012 D 0.999905 D 0.76494 0.999 D 0.76071 0.987 T 0.61549 -0.7040 9 . . . -11.5158 17.1252 0.86712 0.0:1.0:0.0:0.0 . 1451 Q6RI45 BRWD3_HUMAN H 1451 ENSP00000362372:R1451H . R - 2 0 BRWD3 79824665 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 6.904000 0.75708 2.223000 0.72356 0.415000 0.27848 CGT TCGA-2J-AABF-01A-31D-A40W-08 BRWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057344.1 0 0 0 12 393 0 80 1 3.625337e-01 2 38 0 80 2 0 0 0 0 0 2 1 0.999005 12 383 0 80 2 -3.427475 1 1 0 0 1 0 1 1 0.310000 1.840000 0.310000 0.090000 0.040000 0.160000 0.100000 0.102463 0.090000 0 6.000000e-02 1.300000e-01