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 PPP1R1B 84152 broad.mit.edu 37 17 37785436 37785451 + Frame_Shift_Del DEL GACCAACGCCTGCCAT GACCAACGCCTGCCAT - rs139161053 byFrequency TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 GACCAACGCCTGCCAT - GACCAACGCCTGCCAT GACCAACGCCTGCCAT Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:37785436_37785451delGACCAACGCCTGCCAT ENST00000254079.4 + 2 564_579 c.95_110delGACCAACGCCTGCCAT c.(94-111)agaccaacgcctgccatgfs p.RPTPAM32fs PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B p.P33A(1) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG 0.648000 1 Substitution - Missense(1) SO:0001589 frameshift_variant ENST00000254079.4 1 1 hg19 CCDS11339.1 TCGA-2J-AABH-01A-21D-A40W-08 PPP1R1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256925.2 1 0 0 20 266 0 80 0 9.994845e-01 0 164 0 80 2 0 0 0 0 1 0.943352 40 282 1 82 14 -19.999970 1 1 0 0 1 1 2 3 2.109541 0 0.490000 1.910000 0.498599 0.290000 1.800000e-01 1.000000 0.290000 0.340596 0.290000 0 0.230000 0.380000 TP53 7157 broad.mit.edu 37 17 7579503 7579503 + Frame_Shift_Del DEL C C - TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C - C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:7579503delC ENST00000269305.4 - 4 373 c.184delG c.(184-186)gaafs p.E62fs TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs 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.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CTGGGAGCTTCATCTGGACCT 0.617000 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 28 Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(3)|Deletion - In frame(1) SO:0001589 frameshift_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 TCGA-2J-AABH-01A-21D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 217 846 0 302 0 9.969851e-01 1 35 0 302 2 1 1 95 362 0 638 2 1 1.000000 217 835 1 300 14 -20.000000 1 1 0 0 1 0 1 1 1.580520 1 0.490000 1.910000 0.324503 0.620000 5.500000e-01 0.700000 0.630000 0.629563 0.620000 0 0.580000 0.670000 ANK3 288 broad.mit.edu 37 10 61844558 61844558 + Silent SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:61844558T>C ENST00000280772.2 - 32 4067 c.3876A>G c.(3874-3876)ttA>ttG p.L1292L ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|Y_RNA_ENST00000365320.1_RNA NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 196 CCACAGTTTCTAAAACTTGAT 0.363000 0 SO:0001819 synonymous_variant ENST00000280772.2 1 1 hg19 CCDS7258.1 TCGA-2J-AABH-01A-21D-A40W-08 ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048201.4 1 0 1 67 202 0 105 1 9.321418e-01 3 13 0 105 2 0 0 0 0 0 2 1 1.000000 66 201 0 104 2 -20.000000 1 1 0 0 1 1 2 3 2.111558 0 0.490000 1.910000 0.498599 0.990000 8.200000e-01 1.000000 1.000000 0.974674 0.990000 1 0.920000 1.000000 CCAR1 55749 broad.mit.edu 37 10 70516196 70516196 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr10:70516196G>A ENST00000265872.6 + 14 1911 c.1792G>A c.(1792-1794)Gtc>Atc p.V598I MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 56 GCAGCAGCTGGTCGAGAAGCT 0.522000 0 SO:0001583 missense ENST00000265872.6 1 1 hg19 CCDS7282.1 . . . . . . . . . . G 12.76 2.035173 0.35893 . . ENSG00000060339 ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012 T;T;T;T;T;T 0.42513 1.64;0.97;0.97;0.97;0.97;0.97 5.3 5.3 0.74995 . 0.264375 0.37669 N 0.001989 T 0.26521 0.0648 N 0.04508 -0.205 0.44073 D 0.996823 B;B;B 0.21606 0.058;0.021;0.011 B;B;B 0.22152 0.015;0.038;0.017 T 0.07404 -1.0774 10 0.38643 T 0.18 -0.3118 18.9513 0.92642 0.0:0.0:1.0:0.0 . 583;598;572 Q8IX12-2;Q8IX12;F5H2E6 .;CCAR1_HUMAN;. I 598;583;583;583;572;403 ENSP00000265872:V598I;ENSP00000441820:V583I;ENSP00000445254:V583I;ENSP00000439252:V583I;ENSP00000438610:V572I;ENSP00000439642:V403I ENSP00000265872:V598I V + 1 0 CCAR1 70186202 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.970000 0.88000 2.488000 0.83962 0.585000 0.79938 GTC TCGA-2J-AABH-01A-21D-A40W-08 CCAR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048356.2 1 0 1 21 64 0 37 1 9.999986e-01 14 67 0 37 2 0 0 0 0 0 2 1 0.999999 20 63 0 36 2 -20.000000 1 1 0 0 1 1 2 3 2.111558 0 0.490000 1.910000 0.498599 0.990000 6.800000e-01 1.000000 1.000000 0.945260 0.990000 1 0.840000 1.000000 B3GAT3 26229 broad.mit.edu 37 11 62389371 62389371 + Missense_Mutation SNP T T A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:62389371T>A ENST00000265471.5 - 1 276 c.49A>T c.(49-51)Atc>Ttc p.I17F B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F NM_012200.3 NP_036332.2 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 12 AGGCCGGCGATCGACACCAGG 0.746000 0 SO:0001583 missense ENST00000265471.5 1 1 hg19 CCDS8025.1 . . . . . . . . . . T 21.0 4.077236 0.76415 . . ENSG00000149541 ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715 T;T;T;T 0.64803 -0.09;-0.11;-0.12;0.83 4.99 2.62 0.31277 . 1.133970 0.06543 N 0.743641 T 0.39708 0.1088 N 0.08118 0 0.37300 D 0.908636 B;B 0.20671 0.047;0.028 B;B 0.22601 0.04;0.007 T 0.41324 -0.9515 10 0.25751 T 0.34 . 4.5387 0.12047 0.0:0.1041:0.2165:0.6794 . 17;17 B7ZAB3;O94766 .;B3GA3_HUMAN F 17 ENSP00000265471:I17F;ENSP00000431359:I17F;ENSP00000432474:I17F;ENSP00000432854:I17F ENSP00000265471:I17F I - 1 0 B3GAT3 62145947 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.014000 0.40951 0.941000 0.37499 0.459000 0.35465 ATC TCGA-2J-AABH-01A-21D-A40W-08 B3GAT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395588.1 1 0 0 35 114 0 47 1 9.999068e-01 11 40 0 47 2 0 0 0 0 0 2 1 1.000000 35 111 0 47 2 -20.000000 1 1 0 0 1 0 0 0 2.046728 0 0.490000 1.910000 0.490000 0.950000 6.900000e-01 1.000000 1.000000 0.925197 0.950000 1 0.820000 1.000000 POLR2G 5436 broad.mit.edu 37 11 62533969 62533969 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:62533969T>C ENST00000301788.7 + 8 614 c.509T>C c.(508-510)cTt>cCt p.L170P NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 3 TTCGCAGGGCTTGTAAGCTGA 0.488000 0 SO:0001583 missense ENST00000301788.7 1 1 hg19 CCDS31585.1 . . . . . . . . . . T 15.78 2.933223 0.52866 . . ENSG00000168002 ENST00000301788 T 0.60672 0.17 5.94 5.94 0.96194 Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1); 0.322319 0.28241 N 0.016070 T 0.51041 0.1651 L 0.42487 1.325 0.80722 D 1 P 0.52316 0.952 B 0.43623 0.425 T 0.49447 -0.8939 10 0.30078 T 0.28 -22.2904 12.7857 0.57504 0.0:0.0:0.0:1.0 . 170 P62487 RPB7_HUMAN P 170 ENSP00000301788:L170P ENSP00000301788:L170P L + 2 0 POLR2G 62290545 1.000000 0.71417 1.000000 0.80357 0.341000 0.28922 3.560000 0.53763 2.276000 0.75962 0.455000 0.32223 CTT TCGA-2J-AABH-01A-21D-A40W-08 POLR2G-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395344.1 1 0 1 53 155 0 68 1 1 73 262 0 68 2 0 0 0 0 0 2 1 1.000000 52 153 0 68 2 -20.000000 1 1 0 0 1 0 0 0 2.046728 0 0.490000 1.910000 0.490000 0.990000 8.000000e-01 1.000000 1.000000 0.970593 0.990000 1 0.910000 1.000000 SLCO2B1 11309 broad.mit.edu 37 11 74915507 74915507 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:74915507C>T ENST00000289575.5 + 14 2407 c.2012C>T c.(2011-2013)gCt>gTt p.A671V SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V NM_007256.4 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 39 Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124) TTAGTTTTGGCTGTCCTGAGG 0.542000 0 SO:0001583 missense ENST00000289575.5 0 1 hg19 CCDS8235.1 . . . . . . . . . . C 1.614 -0.523235 0.04141 . . ENSG00000137491 ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359 T;T;T;T;T;T 0.80304 0.35;-1.36;-1.36;-1.36;-1.36;0.35 5.6 1.23 0.21249 Major facilitator superfamily domain, general substrate transporter (1); 0.587955 0.17573 N 0.169406 T 0.60753 0.2293 N 0.14661 0.345 0.09310 N 1 B;B;B 0.17268 0.021;0.012;0.021 B;B;B 0.15052 0.008;0.012;0.006 T 0.46386 -0.9195 10 0.27082 T 0.32 . 6.9803 0.24700 0.0:0.5805:0.0:0.4195 . 527;444;671 E9PPU8;O94956-2;O94956 .;.;SO2B1_HUMAN V 671;444;555;527;444;649 ENSP00000289575:A671V;ENSP00000341286:A444V;ENSP00000434112:A555V;ENSP00000436324:A527V;ENSP00000389653:A444V;ENSP00000388912:A649V ENSP00000289575:A671V A + 2 0 SLCO2B1 74593155 0.046000 0.20272 0.272000 0.24630 0.055000 0.15305 -0.057000 0.11768 0.558000 0.29135 -0.253000 0.11424 GCT TCGA-2J-AABH-01A-21D-A40W-08 SLCO2B1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000383933.1 0 0 0 5 354 0 112 0 6.148177e-01 0 136 0 112 2 0 0 0 0 0 2 1 0.935636 5 349 0 111 2 -2.352807 0 1 0 0 1 1 2 3 2.074030 0 0.490000 1.910000 0.492487 0.050000 1.000000e-02 0.140000 0.060000 0.077091 0.050000 0 0.030000 0.100000 PRSS23 11098 broad.mit.edu 37 11 86518765 86518765 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr11:86518765C>T ENST00000280258.5 + 2 505 c.80C>T c.(79-81)cCc>cTc p.P27L PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACAGTGCCCCCTGGAAACCC 0.547000 0 SO:0001583 missense ENST00000280258.5 1 1 hg19 CCDS8278.1 . . . . . . . . . . C 7.059 0.566037 0.13560 . . ENSG00000150687 ENST00000527521;ENST00000280258;ENST00000441050 . . . 5.8 3.7 0.42460 . 0.620354 0.16980 N 0.191723 T 0.37544 0.1007 N 0.19112 0.55 0.43296 D 0.995288 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.002 T 0.08249 -1.0731 8 . . . -4.3818 7.5087 0.27560 0.658:0.2362:0.0:0.1058 . 27;27 B4E2J3;O95084 .;PRS23_HUMAN L 27 . . P + 2 0 PRSS23 86196413 0.106000 0.21978 0.692000 0.30179 0.844000 0.47949 0.285000 0.18883 0.647000 0.30713 0.655000 0.94253 CCC TCGA-2J-AABH-01A-21D-A40W-08 PRSS23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393805.2 1 0 1 100 350 0 114 1 1 35 189 0 114 2 0 0 0 0 0 2 1 1.000000 100 345 0 111 2 -3.586658 1 1 0 0 1 1 2 3 2.074030 0 0.490000 1.910000 0.492487 0.900000 7.500000e-01 1.000000 1.000000 0.909007 0.900000 1 0.820000 1.000000 TRPV4 59341 broad.mit.edu 37 12 110230539 110230539 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:110230539G>A ENST00000418703.2 - 10 1836 c.1742C>T c.(1741-1743)gCc>gTc p.A581V TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 35 CAGGACCAGGGCAAAGACCAT 0.587000 0 SO:0001583 missense ENST00000418703.2 0 1 hg19 CCDS9134.1 . . . . . . . . . . G 35 5.561025 0.96527 . . ENSG00000111199 ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838 D;D;D;D;D;D;D;D 0.88896 -2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44 5.84 5.84 0.93424 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.95379 0.8500 M 0.86420 2.815 0.80722 D 1 D;D;D;D;P 0.89917 1.0;1.0;1.0;0.99;0.938 D;D;D;D;P 0.91635 0.999;0.999;0.999;0.922;0.851 D 0.95065 0.8199 10 0.54805 T 0.06 1.4817 19.1263 0.93386 0.0:0.0:1.0:0.0 . 521;581;474;534;547 Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5 .;TRPV4_HUMAN;.;.;. V 581;581;534;521;474;521;534;547 ENSP00000406191:A581V;ENSP00000261740:A581V;ENSP00000376480:A534V;ENSP00000319003:A521V;ENSP00000443611:A474V;ENSP00000442738:A521V;ENSP00000442167:A534V;ENSP00000444336:A547V ENSP00000261740:A581V A - 2 0 TRPV4 108714922 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 9.869000 0.99810 2.763000 0.94921 0.650000 0.86243 GCC TCGA-2J-AABH-01A-21D-A40W-08 TRPV4-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403270.1 0 0 0 4 104 0 40 0 4.885040e-01 0 38 0 40 2 0 0 0 0 0 2 1 0.885013 4 101 0 39 2 -7.009892 1 1 0 0 1 0 1 1 1.784759 1 0.490000 1.910000 0.357844 0.130000 4.000000e-02 0.280000 0.120000 0.144921 0.130000 0 0.070000 0.200000 NAA25 80018 broad.mit.edu 37 12 112530884 112530884 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:112530884T>C ENST00000261745.4 - 2 363 c.115A>G c.(115-117)Aag>Gag p.K39E NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 46 TTATGTTTCTTCAACAGTTTA 0.313000 0 SO:0001583 missense ENST00000261745.4 1 1 hg19 CCDS9159.1 . . . . . . . . . . T 32 5.154751 0.94686 . . ENSG00000111300 ENST00000261745 T 0.36340 1.26 5.15 5.15 0.70609 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.57975 0.2090 M 0.79805 2.47 0.80722 D 1 D;D 0.67145 0.996;0.996 P;P 0.58266 0.836;0.836 T 0.65265 -0.6210 10 0.72032 D 0.01 -16.1726 15.2728 0.73717 0.0:0.0:0.0:1.0 . 39;39 A8K8X0;Q14CX7 .;NAA25_HUMAN E 39 ENSP00000261745:K39E ENSP00000261745:K39E K - 1 0 NAA25 111015267 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.607000 0.82883 2.061000 0.61500 0.482000 0.46254 AAG TCGA-2J-AABH-01A-21D-A40W-08 NAA25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405205.1 1 0 0 9 255 0 134 0 2.800828e-02 0 7 0 134 2 0 0 0 0 0 2 1 0.993933 9 250 0 133 2 -10.321650 1 1 0 0 1 0 1 1 1.784759 1 0.490000 1.910000 0.357844 0.110000 5.000000e-02 0.200000 0.110000 0.121041 0.110000 0 0.070000 0.160000 MPHOSPH9 10198 broad.mit.edu 37 12 123682836 123682836 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:123682836C>T ENST00000606320.1 - 12 2189 c.1983G>A c.(1981-1983)gtG>gtA p.V661V MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V Q99550 MPP9_HUMAN M-phase phosphoprotein 9 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) CAAGTGTTCTCACGCGACTAG 0.323000 0 SO:0001819 synonymous_variant ENST00000606320.1 1 1 hg19 TCGA-2J-AABH-01A-21D-A40W-08 MPHOSPH9-030 NOVEL basic protein_coding protein_coding OTTHUMT00000471390.2 1 0 1 19 62 0 57 1 2.492212e-01 2 2 0 57 2 0 0 0 0 0 2 1 0.999996 19 62 0 56 2 -15.519140 1 1 0 0 1 0 1 1 1.784759 1 0.490000 1.910000 0.357844 0.740000 4.800000e-01 1.000000 1.000000 0.758143 0.740000 0 0.610000 0.900000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-2J-AABH-01A-21D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 26 109 0 72 1 9.953248e-01 14 25 0 72 2 1 1 47 256 0 407 2 1 1.000000 26 107 0 72 2 -17.454930 1 1 0 0 1 2 2 4 2.364243 1 0.490000 1.910000 0.559129 0.960000 6.400000e-01 1.000000 1.000000 0.913888 0.960000 1 0.780000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:25398285C>T ENST00000256078.4 - 2 97 c.34G>A c.(34-36)Ggt>Agt p.G12S KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000311936.3_Missense_Mutation_p.G12S NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 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 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 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 35 5.441396 0.96187 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.76316 -1.01;-1.01;-1.01;-1.01 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 T 0.78559 0.4302 L 0.28344 0.845 0.80722 D 1 P;P 0.39665 0.557;0.682 P;P 0.50570 0.525;0.644 T 0.80254 -0.1459 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN S 12 ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S ENSP00000256078:G12S G - 1 0 KRAS 25289552 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-AABH-01A-21D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 26 108 0 71 1 9.965362e-01 14 27 0 71 2 1 1 47 257 0 405 2 1 1.000000 26 106 0 71 2 -17.441480 1 0 0 0 1 2 2 4 2.364243 1 0.490000 1.910000 0.559129 0.970000 6.400000e-01 1.000000 1.000000 0.917258 0.970000 1 0.790000 1.000000 C1S 716 broad.mit.edu 37 12 7177305 7177305 + Missense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr12:7177305G>T ENST00000406697.1 + 15 2045 c.1417G>T c.(1417-1419)Gct>Tct p.A473S C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S P09871 C1S_HUMAN complement component 1, s subcomponent 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGTGCTGACGGCTGCTCATGT 0.517000 GBM(156;750 1943 12971 24779 31015) 0 SO:0001583 missense ENST00000406697.1 1 1 hg19 CCDS31735.1 . . . . . . . . . . G 22.8 4.333322 0.81801 . . ENSG00000182326 ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681 D;D;D;D 0.95272 -3.66;-3.66;-3.66;-3.66 5.03 4.14 0.48551 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.000000 0.42420 D 0.000716 D 0.96592 0.8888 M 0.73372 2.23 0.58432 D 0.999991 D 0.89917 1.0 D 0.97110 1.0 D 0.96958 0.9699 10 0.87932 D 0 . 13.8363 0.63410 0.0739:0.0:0.9261:0.0 . 473 P09871 C1S_HUMAN S 473;473;473;467;306 ENSP00000385035:A473S;ENSP00000328173:A473S;ENSP00000354057:A473S;ENSP00000384171:A306S ENSP00000328173:A473S A + 1 0 C1S 7047566 1.000000 0.71417 0.066000 0.19879 0.014000 0.08584 7.016000 0.76393 1.341000 0.45600 0.462000 0.41574 GCT TCGA-2J-AABH-01A-21D-A40W-08 C1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317481.1 1 0 1 45 174 0 81 1 1 8 587 0 81 2 0 0 0 0 0 2 1 1.000000 45 170 0 80 2 -20.000000 1 1 0 0 1 2 2 4 2.364243 1 0.490000 1.910000 0.559129 0.990000 7.400000e-01 1.000000 1.000000 0.950532 0.990000 1 0.860000 1.000000 ZMYM5 9205 broad.mit.edu 37 13 20409664 20409664 + Nonsense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr13:20409664G>A ENST00000337963.4 - 7 1468 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) CTCTTCTGCTGACCTCCAATC 0.378000 0 SO:0001587 stop_gained ENST00000337963.4 0 1 hg19 . . . . . . . . . . G 37 6.428971 0.97559 . . ENSG00000132950 ENST00000337963;ENST00000502168 . . . 4.88 4.03 0.46877 . 0.056814 0.64402 D 0.000001 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.62326 D 0.03 -1.5531 14.9049 0.70711 0.0:0.2714:0.7286:0.0 . . . . X 402;392 . ENSP00000337034:Q402X Q - 1 0 ZMYM5 19307664 1.000000 0.71417 0.890000 0.34922 0.578000 0.36192 7.270000 0.78493 1.405000 0.46838 -0.314000 0.08810 CAG TCGA-2J-AABH-01A-21D-A40W-08 ZMYM5-201 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 5 225 0 66 0 8.355525e-02 0 18 0 66 2 0 0 0 0 0 2 1 0.936051 5 222 0 65 2 -6.427219 1 1 0 0 1 1 2 3 2.531048 1 0.490000 1.910000 0.590361 0.110000 3.000000e-02 0.240000 0.120000 0.131022 0.110000 0 0.070000 0.180000 OR4E2 26686 broad.mit.edu 37 14 22133993 22133993 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:22133993C>T ENST00000408935.1 + 1 697 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) AGCTGAAGGGCGCCAGAAAGC 0.527000 0 SO:0001583 missense ENST00000408935.1 1 1 hg19 CCDS41916.1 . . . . . . . . . . C 15.05 2.718980 0.48622 . . ENSG00000221977 ENST00000408935 T 0.00337 8.05 5.59 5.59 0.84812 GPCR, rhodopsin-like superfamily (1); 0.000000 0.38959 U 0.001514 T 0.01124 0.0037 M 0.92784 3.345 0.58432 D 0.999998 D 0.89917 1.0 D 0.87578 0.998 T 0.50499 -0.8821 10 0.87932 D 0 . 12.3913 0.55360 0.1682:0.8318:0.0:0.0 . 233 Q8NGC2 OR4E2_HUMAN C 233 ENSP00000386195:R233C ENSP00000386195:R233C R + 1 0 OR4E2 21203833 0.001000 0.12720 0.993000 0.49108 0.371000 0.29859 0.040000 0.13905 2.782000 0.95742 0.591000 0.81541 CGC TCGA-2J-AABH-01A-21D-A40W-08 OR4E2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401874.1 1 0 1 47 156 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 1.000000 47 153 0 68 2 -20.000000 1 1 120886 1 39 1 0 1 1 2.041482 0 0.490000 1.910000 0.488747 0.930000 7.100000e-01 1.000000 1.000000 0.921587 0.930000 1 0.820000 1.000000 MYH7 4625 broad.mit.edu 37 14 23893229 23893229 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:23893229T>C ENST00000355349.3 - 23 2971 c.2809A>G c.(2809-2811)Act>Gct p.T937A NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 137 all_cancers(95;2.54e-05) TTCTTGGCAGTGAGCTCAGCA 0.522000 0 SO:0001583 missense ENST00000355349.3 1 1 hg19 CCDS9601.1 . . . . . . . . . . T 16.89 3.247429 0.59103 . . ENSG00000092054 ENST00000355349;ENST00000544444 D 0.88896 -2.44 5.33 5.33 0.75918 . . . . . D 0.90003 0.6879 M 0.85777 2.775 0.58432 D 0.999999 B 0.09022 0.002 B 0.15052 0.012 D 0.87423 0.2383 9 0.44086 T 0.13 . 15.463 0.75373 0.0:0.0:0.0:1.0 . 937 P12883 MYH7_HUMAN A 937 ENSP00000347507:T937A ENSP00000347507:T937A T - 1 0 MYH7 22963069 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.975000 0.70475 2.241000 0.73720 0.533000 0.62120 ACT TCGA-2J-AABH-01A-21D-A40W-08 MYH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071798.3 1 0 1 99 357 0 135 0 0 0 1 0 135 2 0 0 0 0 0 2 1 1.000000 96 351 0 134 2 -20.000000 1 1 0 0 1 0 1 1 2.041482 0 0.490000 1.910000 0.488747 0.870000 7.300000e-01 1.000000 1.000000 0.883980 0.870000 1 0.800000 0.960000 SYT16 83851 broad.mit.edu 37 14 62547800 62547800 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr14:62547800C>T ENST00000430451.2 + 4 1439 c.1242C>T c.(1240-1242)ttC>ttT p.F414F RP11-355I22.5_ENST00000553990.1_lincRNA NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 35 ACCCCGTCTTCAGGGAGAAGG 0.582000 0 SO:0001819 synonymous_variant ENST00000430451.2 1 1 hg19 CCDS45121.1 TCGA-2J-AABH-01A-21D-A40W-08 SYT16-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000411700.1 1 0 1 19 79 0 29 0 0 1 0 0 29 2 0 0 0 0 0 2 1 0.999996 19 79 0 29 2 -20.000000 1 1 0 0 1 1 2 3 2.057585 0 0.490000 1.910000 0.491246 0.790000 5.100000e-01 1.000000 1.000000 0.798591 0.790000 0 0.640000 0.970000 ZWILCH 55055 broad.mit.edu 37 15 66832448 66832448 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr15:66832448G>A ENST00000307897.5 + 17 1967 c.1587G>A c.(1585-1587)caG>caA p.Q529Q ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 18 AGAAGCCACAGAAATGGAGAG 0.373000 0 SO:0001819 synonymous_variant ENST00000307897.5 1 1 hg19 CCDS10219.1 TCGA-2J-AABH-01A-21D-A40W-08 ZWILCH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256904.4 1 0 1 60 112 0 58 1 9.938210e-01 8 10 0 58 2 0 0 0 0 0 2 1 1.000000 59 111 0 57 2 -20.000000 1 1 0 0 1 0 1 1 1.610565 1 0.490000 1.910000 0.328859 0.960000 8.100000e-01 1.000000 1.000000 0.951319 0.960000 1 0.890000 1.000000 MAPK8IP3 23162 broad.mit.edu 37 16 1811270 1811270 + Missense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:1811270G>T ENST00000250894.4 + 13 1657 c.1500G>T c.(1498-1500)gaG>gaT p.E500D MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 42 CCAAAGAAGAGGCGGAGGATG 0.602000 0 SO:0001583 missense ENST00000250894.4 1 1 hg19 CCDS10442.2 . . . . . . . . . . G 4.841 0.156321 0.09236 . . ENSG00000138834 ENST00000250894;ENST00000356010 T;T 0.17691 2.26;2.26 4.75 3.72 0.42706 . 0.055147 0.64402 D 0.000001 T 0.09598 0.0236 L 0.29908 0.895 0.54753 D 0.999985 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.08055 0.001;0.001;0.003 T 0.11665 -1.0578 10 0.07990 T 0.79 -42.6426 7.1817 0.25776 0.0877:0.0:0.7414:0.1709 . 501;494;500 B7ZMF3;E9PFH7;Q9UPT6 .;.;JIP3_HUMAN D 500;494 ENSP00000250894:E500D;ENSP00000348290:E494D ENSP00000250894:E500D E + 3 2 MAPK8IP3 1751271 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 3.131000 0.50515 2.195000 0.70347 0.609000 0.83330 GAG TCGA-2J-AABH-01A-21D-A40W-08 MAPK8IP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250508.2 1 0 1 107 339 0 167 1 9.996640e-01 15 25 0 167 2 0 0 0 0 0 2 1 1.000000 103 328 1 165 11 -20.000000 1 1 0 0 1 0 0 0 2.036555 0 0.490000 1.910000 0.487489 0.960000 8.100000e-01 1.000000 1.000000 0.954195 0.960000 1 0.880000 1.000000 PRRT2 112476 broad.mit.edu 37 16 29824835 29824835 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr16:29824835C>T ENST00000358758.7 + 2 743 c.460C>T c.(460-462)Cca>Tca p.P154S AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S|AC009133.14_ENST00000569981.1_RNA NM_001256442.1|NM_001256443.1|NM_145239.2 NP_001243371.1|NP_001243372.1|NP_660282.2 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 8 TACCCCCAAGCCAGCCCTTCA 0.637000 0 SO:0001583 missense ENST00000358758.7 1 1 hg19 CCDS10654.1 . . . . . . . . . . C 6.452 0.451562 0.12223 . . ENSG00000167371 ENST00000358758;ENST00000300797 T;T 0.70516 -0.49;0.42 4.04 1.99 0.26369 . 0.279462 0.27696 N 0.018240 T 0.47060 0.1425 N 0.14661 0.345 0.21822 N 0.999527 B;B;B 0.24721 0.087;0.03;0.11 B;B;B 0.24006 0.02;0.009;0.05 T 0.32268 -0.9913 10 0.45353 T 0.12 -1.2862 3.9443 0.09341 0.0:0.5684:0.1969:0.2346 . 154;154;154 Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2 .;PRRT2_HUMAN;. S 154 ENSP00000351608:P154S;ENSP00000300797:P154S ENSP00000300797:P154S P + 1 0 PRRT2 29732336 0.006000 0.16342 0.199000 0.23439 0.760000 0.43138 2.130000 0.42064 0.443000 0.26582 0.563000 0.77884 CCA TCGA-2J-AABH-01A-21D-A40W-08 PRRT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255161.3 1 0 1 33 101 0 35 0 2.632258e-01 1 3 0 35 2 0 0 0 0 0 2 1 1.000000 32 95 0 33 2 -20.000000 1 1 121402 32 42 1 0 0 0 2.047530 0 0.490000 1.910000 0.490000 0.990000 7.200000e-01 1.000000 1.000000 0.946392 0.990000 1 0.850000 1.000000 KRTAP9-3 83900 broad.mit.edu 37 17 39389087 39389087 + Missense_Mutation SNP T T G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:39389087T>G ENST00000411528.2 + 1 373 c.334T>G c.(334-336)Tgt>Ggt p.C112G NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 p.P114fs*3(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CACAAGTGTTTGTCTGCCTGG 0.602000 1 Deletion - Frameshift(1) SO:0001583 missense ENST00000411528.2 1 1 hg19 CCDS11385.1 . . . . . . . . . . . 9.806 1.181974 0.21787 . . ENSG00000204873 ENST00000411528 T 0.01647 4.71 2.42 -0.28 0.12886 . . . . . T 0.04182 0.0116 M 0.86805 2.84 0.09310 N 1 . . . . . . T 0.36089 -0.9762 7 0.16420 T 0.52 . 3.9176 0.09230 0.0:0.1391:0.2145:0.6464 . . . . G 112 ENSP00000392189:C112G ENSP00000392189:C112G C + 1 0 KRTAP9-3 36642613 0.015000 0.18098 0.000000 0.03702 0.007000 0.05969 -0.267000 0.08619 -0.256000 0.09473 0.329000 0.21502 TGT TCGA-2J-AABH-01A-21D-A40W-08 KRTAP9-3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257290.1 1 0 1 89 277 0 138 0 0 0 0 138 2 0 0 0 0 0 2 1 1.000000 88 272 0 136 2 -20.000000 1 1 0 0 1 1 2 3 2.109541 0 0.490000 1.910000 0.498599 0.990000 8.300000e-01 1.000000 1.000000 0.970685 0.990000 1 0.910000 1.000000 HDAC5 10014 broad.mit.edu 37 17 42160137 42160137 + Missense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr17:42160137C>A ENST00000393622.2 - 19 2846 c.2515G>T c.(2515-2517)Gcc>Tcc p.A839S HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S NM_001015053.1|NM_005474.4 NP_001015053.1|NP_005465.2 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 21 Breast(137;0.00637)|Prostate(33;0.0313) ACTCACATGGCTGTGGATTCC 0.602000 0 SO:0001583 missense ENST00000393622.2 0 1 hg19 CCDS45696.1 . . . . . . . . . . C 28.8 4.949580 0.92660 . . ENSG00000108840 ENST00000225983;ENST00000393622;ENST00000336057 T;T;T 0.72282 -0.64;-0.64;-0.64 5.4 4.44 0.53790 Histone deacetylase domain (2); 0.000000 0.64402 D 0.000001 D 0.83478 0.5263 M 0.81497 2.545 0.80722 D 1 D;D;D;D 0.62365 0.99;0.99;0.981;0.991 D;D;D;D 0.81914 0.995;0.988;0.971;0.991 D 0.85438 0.1153 10 0.72032 D 0.01 . 12.7136 0.57103 0.0:0.9198:0.0:0.0802 . 754;839;840;839 Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6 .;.;.;HDAC5_HUMAN S 840;839;754 ENSP00000225983:A840S;ENSP00000377244:A839S;ENSP00000337290:A754S ENSP00000225983:A840S A - 1 0 HDAC5 39515663 0.999000 0.42202 1.000000 0.80357 0.959000 0.62525 4.016000 0.57159 1.295000 0.44724 0.655000 0.94253 GCC TCGA-2J-AABH-01A-21D-A40W-08 HDAC5-201 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000457686.1 0 0 0 3 25 0 10 0 9.967434e-01 0 139 0 10 2 0 0 0 0 0 2 0 0.788350 1 25 0 10 2 -8.489199 1 0 0 0 1 1 2 3 2.109541 0 0.490000 1.910000 0.498599 0.510000 1.500000e-01 1.000000 1.000000 0.554074 0.510000 0 0.290000 0.850000 GRIN3B 116444 broad.mit.edu 37 19 1005311 1005311 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:1005311C>T ENST00000234389.3 + 3 1830 c.1811C>T c.(1810-1812)aCg>aTg p.T604M AC004528.4_ENST00000588380.1_RNA NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418) TACGGCCTCACGCCACGTGGC 0.662000 0 SO:0001583 missense ENST00000234389.3 1 1 hg19 CCDS32861.1 . . . . . . . . . . C 15.97 2.988790 0.53934 . . ENSG00000116032 ENST00000234389 T 0.54479 0.57 4.36 4.36 0.52297 Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2); 0.000000 0.85682 D 0.000000 T 0.72740 0.3498 M 0.79475 2.455 0.47308 D 0.999383 D 0.89917 1.0 D 0.97110 1.0 T 0.77965 -0.2389 10 0.87932 D 0 . 15.515 0.75815 0.0:1.0:0.0:0.0 . 604 O60391 NMD3B_HUMAN M 604 ENSP00000234389:T604M ENSP00000234389:T604M T + 2 0 GRIN3B 956311 1.000000 0.71417 0.993000 0.49108 0.178000 0.23041 7.671000 0.83941 2.012000 0.59069 0.306000 0.20318 ACG TCGA-2J-AABH-01A-21D-A40W-08 GRIN3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000103923.2 1 0 1 60 202 0 107 0 0 0 0 107 2 0 0 0 0 0 2 1 1.000000 61 197 0 104 2 -20.000000 1 1 121396 12 42 1 0 1 1 2.037121 0 0.490000 1.910000 0.488747 0.920000 7.300000e-01 1.000000 1.000000 0.918713 0.920000 1 0.820000 1.000000 C19orf26 255057 broad.mit.edu 37 19 1236016 1236016 + Silent SNP G G A rs146688767 TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:1236016G>A ENST00000382477.2 - 2 340 c.66C>T c.(64-66)gaC>gaT p.D22D C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000590083.1_Silent_p.D28D|AC004221.2_ENST00000592843.1_lincRNA Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) CAGTGGCATTGTCCCACGACG 0.687000 HNSCC(14;0.022) 0 SO:0001819 synonymous_variant ENST00000382477.2 1 1 hg19 TCGA-2J-AABH-01A-21D-A40W-08 C19orf26-202 KNOWN basic|appris_candidate_longest protein_coding protein_coding 1 0 0 41 113 0 52 0 0 0 0 52 2 0 0 0 0 0 2 1 1.000000 40 113 0 49 2 -20.000000 1 1 120820 3 37 1 0 1 1 2.037121 0 0.490000 1.910000 0.488747 0.990000 8.100000e-01 1.000000 1.000000 0.977429 0.990000 1 0.940000 1.000000 RYR1 6261 broad.mit.edu 37 19 38994959 38994959 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:38994959C>T ENST00000359596.3 + 50 8026 c.8026C>T c.(8026-8028)Cgg>Tgg p.R2676W RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) GCACCTCACACGGAAACTCTT 0.582000 0 GRCh37 CM044255 RYR1 M SO:0001583 missense ENST00000359596.3 1 1 hg19 CCDS33011.1 . . . . . . . . . . C 11.90 1.777859 0.31502 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.73258 -0.73;-0.73;-0.73 3.97 2.91 0.33838 . 0.000000 0.64402 U 0.000007 T 0.76140 0.3946 L 0.47716 1.5 0.37413 D 0.913321 D;D 0.89917 1.0;1.0 D;P 0.68483 0.958;0.908 T 0.79264 -0.1875 10 0.66056 D 0.02 . 10.2917 0.43599 0.3951:0.6049:0.0:0.0 rs28934001 2676;2676 P21817-2;P21817 .;RYR1_HUMAN W 2676 ENSP00000352608:R2676W;ENSP00000347667:R2676W;ENSP00000354254:R2676W ENSP00000347667:R2676W R + 1 2 RYR1 43686799 0.190000 0.23276 0.598000 0.28837 0.467000 0.32768 0.830000 0.27462 0.935000 0.37341 0.305000 0.20034 CGG TCGA-2J-AABH-01A-21D-A40W-08 RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 1 0 1 71 124 0 51 0 0 0 0 51 2 0 0 0 0 0 2 1 1.000000 71 120 0 51 2 -20.000000 1 1 121412 1 28 1 1 2 3 2.318303 1 0.490000 1.910000 0.560060 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 FUZ 80199 broad.mit.edu 37 19 50314661 50314661 + Missense_Mutation SNP A A G TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr19:50314661A>G ENST00000313777.4 - 5 614 c.451T>C c.(451-453)Tgt>Cgt p.C151R FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) CAGTCCACACACTGGGTCAGG 0.572000 0 SO:0001583 missense ENST00000313777.4 1 1 hg19 CCDS12781.1 . . . . . . . . . . A 18.29 3.591637 0.66219 . . ENSG00000010361 ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740 T;T;T;T 0.21031 2.03;2.03;2.03;2.03 4.21 4.21 0.49690 . 0.108709 0.64402 D 0.000007 T 0.42245 0.1194 M 0.68593 2.085 0.80722 D 1 D;D;D 0.76494 0.999;0.999;0.998 D;D;D 0.83275 0.996;0.987;0.953 T 0.36383 -0.9750 10 0.87932 D 0 -13.6359 10.9033 0.47065 1.0:0.0:0.0:0.0 . 151;115;151 B4DHF8;Q9BT04-3;Q9BT04 .;.;FUZZY_HUMAN R 115;101;151;151;51;151;101;151 ENSP00000435177:C115R;ENSP00000431731:C101R;ENSP00000313309:C151R;ENSP00000408018:C151R ENSP00000313309:C151R C - 1 0 FUZ 55006473 1.000000 0.71417 1.000000 0.80357 0.915000 0.54546 3.087000 0.50167 1.763000 0.52060 0.379000 0.24179 TGT TCGA-2J-AABH-01A-21D-A40W-08 FUZ-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393986.1 1 0 1 30 49 0 13 1 1 30 30 0 13 2 0 0 0 0 0 2 1 1.000000 28 47 0 13 2 -20.000000 1 0 0 0 1 1 2 3 2.467671 1 0.490000 1.910000 0.575319 0.990000 9.900000e-01 1.000000 1.000000 0.999994 0.990000 1 0.990000 1.000000 HMCN1 83872 broad.mit.edu 37 1 186050343 186050343 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:186050343G>A ENST00000271588.4 + 56 8833 c.8604G>A c.(8602-8604)ccG>ccA p.P2868P HMCN1_ENST00000367492.2_Silent_p.P2868P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 308 TGTTAGTGCCGCCAATTATCA 0.423000 0 SO:0001819 synonymous_variant ENST00000271588.4 0 1 hg19 CCDS30956.1 TCGA-2J-AABH-01A-21D-A40W-08 HMCN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131848.1 0 0 0 8 900 0 312 0 1.059701e-03 0 5 0 312 2 0 0 0 0 0 2 1 0.988476 8 882 0 312 2 -1.722207 0 1 121412 1 40 1 1 2 3 2.564316 1 0.490000 1.910000 0.590361 0.040000 0 0.090000 0.060000 0.049129 0.040000 0 0.020000 0.070000 CNIH3 149111 broad.mit.edu 37 1 224922304 224922304 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:224922304C>T ENST00000272133.3 + 5 1233 c.351C>T c.(349-351)taC>taT p.Y117Y NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 9 Breast(184;0.218) AACTAGCCTACGACCCACCGG 0.517000 0 SO:0001819 synonymous_variant ENST00000272133.3 1 1 hg19 CCDS1544.1 TCGA-2J-AABH-01A-21D-A40W-08 CNIH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091752.2 1 0 1 60 242 0 77 0 7.214820e-01 0 12 0 77 2 0 0 0 0 0 2 1 1.000000 56 240 0 77 2 -20.000000 1 1 121412 7 43 1 1 2 3 2.573745 1 0.490000 1.910000 0.590361 0.990000 7.900000e-01 1.000000 1.000000 0.961727 0.990000 1 0.890000 1.000000 RYR2 6262 broad.mit.edu 37 1 237586430 237586430 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr1:237586430G>A ENST00000366574.2 + 12 1204 c.887G>A c.(886-888)cGa>cAa p.R296Q RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q 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) CAGCCATTCCGACTACGCCAT 0.418000 0 SO:0001583 missense ENST00000366574.2 1 1 hg19 CCDS55691.1 . . . . . . . . . . G 35 5.596093 0.96602 . . ENSG00000198626 ENST00000366574;ENST00000360064;ENST00000542537 D;D;D 0.97430 -4.38;-4.38;-4.38 5.42 5.42 0.78866 MIR motif (2);MIR (2); 0.000000 0.56097 D 0.000026 D 0.98317 0.9442 M 0.87900 2.915 0.80722 D 1 D 0.69078 0.997 P 0.57468 0.821 D 0.99236 1.0883 10 0.87932 D 0 . 19.2044 0.93724 0.0:0.0:1.0:0.0 . 296 Q92736 RYR2_HUMAN Q 296;294;280 ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q ENSP00000353174:R294Q R + 2 0 RYR2 235653053 1.000000 0.71417 0.997000 0.53966 0.975000 0.68041 9.781000 0.99029 2.541000 0.85698 0.655000 0.94253 CGA TCGA-2J-AABH-01A-21D-A40W-08 RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095402.2 0 0 0 15 483 0 130 0 0 0 0 130 2 0 0 0 0 0 2 1 0.999871 15 481 0 129 2 -2.708833 1 1 0 0 1 1 2 3 2.573745 1 0.490000 1.910000 0.590361 0.150000 8.000000e-02 0.240000 0.150000 0.162379 0.150000 0 0.110000 0.200000 SCN1A 6323 broad.mit.edu 37 2 166900451 166900451 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:166900451C>T ENST00000303395.4 - 11 1770 c.1771G>A c.(1771-1773)Gca>Aca p.A591T AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) TCATCATCTGCGAAGTCGTTC 0.517000 0 SO:0001583 missense ENST00000303395.4 1 1 hg19 CCDS54413.1 . . . . . . . . . . C 18.65 3.670151 0.67814 . . ENSG00000144285 ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050 D;D;D;D 0.98512 -4.97;-4.97;-4.97;-4.97 5.37 4.49 0.54785 Domain of unknown function DUF3451 (1); 0.084144 0.51477 N 0.000088 D 0.98745 0.9578 M 0.92412 3.305 0.54753 D 0.999984 D;D;P 0.65815 0.964;0.995;0.814 P;P;B 0.54924 0.617;0.764;0.34 D 0.98621 1.0667 10 0.46703 T 0.11 . 13.7837 0.63097 0.0:0.926:0.0:0.074 . 591;591;591 P35498-2;E9PG49;P35498 .;.;SCN1A_HUMAN T 591 ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T ENSP00000303540:A591T A - 1 0 SCN1A 166608697 1.000000 0.71417 1.000000 0.80357 0.917000 0.54804 7.773000 0.85462 1.256000 0.44068 0.561000 0.74099 GCA TCGA-2J-AABH-01A-21D-A40W-08 SCN1A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102661.1 1 0 1 63 242 0 86 0 0 0 0 86 2 0 0 0 0 0 2 1 1.000000 62 237 0 83 2 -20.000000 1 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.840000 6.600000e-01 1.000000 1.000000 0.847357 0.840000 0 0.750000 0.940000 LRP2 4036 broad.mit.edu 37 2 170062574 170062574 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:170062574G>A ENST00000263816.3 - 40 7800 c.7515C>T c.(7513-7515)cgC>cgT p.R2505R NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 p.R2505R(1) 315 """Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)" GTTTTGGAACGCGGGCTATCA 0.428000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000263816.3 1 1 hg19 CCDS2232.1 TCGA-2J-AABH-01A-21D-A40W-08 LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 1 0 1 101 342 0 99 0 0 0 0 99 2 0 0 0 0 0 2 1 1.000000 97 340 0 99 2 -20.000000 1 1 121412 3 41 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.920000 7.700000e-01 1.000000 1.000000 0.925293 0.920000 1 0.840000 1.000000 ANKRD44 91526 broad.mit.edu 37 2 197990583 197990583 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:197990583G>A ENST00000328737.2 - 5 441 c.365C>T c.(364-366)gCg>gTg p.A122V ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTCAGAGCCGCATGGTGCAA 0.542000 0 SO:0001583 missense ENST00000328737.2 0 1 hg19 . . . . . . . . . . G 35 5.488319 0.96323 . . ENSG00000065413 ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919 T;D;D;D;D;T;D 0.81739 -0.26;-1.53;-1.53;-1.53;-1.53;-1.29;-1.53 5.35 5.35 0.76521 . 0.000000 0.85682 D 0.000000 D 0.92612 0.7653 M 0.93808 3.46 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.78314 0.979;0.991 D 0.93967 0.7246 10 0.87932 D 0 . 19.2539 0.93938 0.0:0.0:1.0:0.0 . 75;147 F5H682;Q8N8A2-3 .;. V 139;122;122;122;147;75;147 ENSP00000282272:A139V;ENSP00000331516:A122V;ENSP00000402420:A122V;ENSP00000338794:A122V;ENSP00000387141:A147V;ENSP00000437825:A75V;ENSP00000387233:A147V ENSP00000282272:A139V A - 2 0 ANKRD44 197698828 1.000000 0.71417 0.368000 0.25939 0.860000 0.49131 9.601000 0.98297 2.780000 0.95670 0.655000 0.94253 GCG TCGA-2J-AABH-01A-21D-A40W-08 ANKRD44-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000335113.1 0 0 0 5 390 0 135 0 5.221339e-03 0 7 0 135 2 0 0 0 0 0 2 1 0.936237 5 386 0 132 2 -2.018767 0 1 121412 2 36 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.050000 1.000000e-02 0.120000 0.060000 0.061642 0.050000 0 0.030000 0.090000 TUBA4A 7277 broad.mit.edu 37 2 220115248 220115248 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:220115248C>T ENST00000248437.4 - 4 1346 c.1173G>A c.(1171-1173)ctG>ctA p.L391L TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4A_ENST00000498660.1_5'Flank NM_006000.2 NP_005991.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 20 Renal(207;0.0474) Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541) ACTTGTGGTCCAGGCGGGCCC 0.637000 0 SO:0001819 synonymous_variant ENST00000248437.4 1 1 hg19 CCDS2438.1 TCGA-2J-AABH-01A-21D-A40W-08 TUBA4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256816.3 1 0 1 68 290 0 131 1 1 416 474 0 131 2 0 0 0 0 0 2 1 1.000000 67 282 0 127 2 -3.496347 1 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.770000 6.100000e-01 0.950000 0.780000 0.781736 0.770000 0 0.690000 0.870000 SLC4A3 6508 broad.mit.edu 37 2 220500451 220500451 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:220500451C>T ENST00000358055.3 + 14 2541 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 51 Renal(207;0.0183) CCCCTTGCTGCGGACGGGCTC 0.642000 0 SO:0001583 missense ENST00000358055.3 0 1 hg19 CCDS2445.1 . . . . . . . . . . C 24.5 4.533460 0.85812 . . ENSG00000114923 ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151 D;D;D;D;D 0.81821 -1.54;-1.54;-1.54;-1.54;-1.54 4.62 4.62 0.57501 Bicarbonate transporter, C-terminal (1); 0.000000 0.85682 D 0.000000 D 0.89389 0.6701 M 0.84773 2.715 0.80722 D 1 D;D;D 0.76494 0.999;0.998;0.998 P;D;P 0.65010 0.857;0.931;0.886 D 0.91234 0.5016 10 0.87932 D 0 . 14.3747 0.66865 0.1482:0.8518:0.0:0.0 . 381;677;704 P48751-2;P48751;P48751-3 .;B3A3_HUMAN;. W 677;677;704;704;677 ENSP00000350756:R677W;ENSP00000362865:R677W;ENSP00000273063:R704W;ENSP00000362867:R704W;ENSP00000314006:R677W ENSP00000273063:R704W R + 1 2 SLC4A3 220208695 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.201000 0.51059 2.264000 0.75181 0.643000 0.83706 CGG TCGA-2J-AABH-01A-21D-A40W-08 SLC4A3-009 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316472.1 0 0 0 4 61 0 14 0 3.439325e-02 0 4 0 14 2 0 0 0 0 0 2 1 0.888852 4 60 0 14 2 -3.340893 1 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.270000 9.000000e-02 0.600000 0.250000 0.300550 0.270000 0 0.170000 0.430000 IRS1 3667 broad.mit.edu 37 2 227662563 227662563 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:227662563C>T ENST00000305123.5 - 1 1912 c.892G>A c.(892-894)Ggg>Agg p.G298R IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) CGGGTCAGCCCCACCTGGCTG 0.687000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000305123.5 1 1 hg19 CCDS2463.1 . . . . . . . . . . C 24.9 4.584426 0.86748 . . ENSG00000169047 ENST00000305123 T 0.70164 -0.46 5.66 5.66 0.87406 . 0.000000 0.64402 D 0.000001 D 0.82756 0.5106 M 0.73962 2.25 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.83805 0.0238 10 0.72032 D 0.01 -23.2391 19.7366 0.96208 0.0:1.0:0.0:0.0 . 298 P35568 IRS1_HUMAN R 298 ENSP00000304895:G298R ENSP00000304895:G298R G - 1 0 IRS1 227370807 1.000000 0.71417 1.000000 0.80357 0.929000 0.56500 7.818000 0.86416 2.667000 0.90743 0.462000 0.41574 GGG TCGA-2J-AABH-01A-21D-A40W-08 IRS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256886.3 1 0 0 82 363 0 93 0 6.787222e-01 1 11 0 93 2 0 0 0 0 0 2 1 1.000000 79 323 0 88 2 -2.035125 0 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.750000 6.100000e-01 0.910000 0.750000 0.757949 0.750000 0 0.670000 0.830000 BCL11A 53335 broad.mit.edu 37 2 60688625 60688625 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:60688625G>A ENST00000335712.6 - 4 1649 c.1422C>T c.(1420-1422)aaC>aaT p.N474N BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.N474N NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGTTGGGGTCGTTCTCGCTCT 0.642000 T IGH@ B-CLL Dom yes 2 2p13 53335 B-cell CLL/lymphoma 11A L 0 SO:0001819 synonymous_variant ENST00000335712.6 1 1 hg19 CCDS1862.1 TCGA-2J-AABH-01A-21D-A40W-08 BCL11A-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000251579.2 1 0 1 20 65 0 31 0 1.498450e-01 0 3 0 31 2 0 0 0 0 0 2 1 0.999998 20 65 0 31 2 -20.000000 1 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.960000 6.300000e-01 1.000000 1.000000 0.913248 0.960000 1 0.780000 1.000000 ADAM17 6868 broad.mit.edu 37 2 9663463 9663463 + Missense_Mutation SNP T T A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr2:9663463T>A ENST00000310823.3 - 7 940 c.758A>T c.(757-759)gAg>gTg p.E253V ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTCAATTAGCTCTATCTGTGT 0.333000 0 SO:0001583 missense ENST00000310823.3 1 1 hg19 CCDS1665.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 21.6|21.6 4.180382|4.180382 0.78677|0.78677 .|. .|. ENSG00000151694|ENSG00000151694 ENST00000310823;ENST00000497134|ENST00000538558 D;D|. 0.87650|. -2.28;-2.28|. 4.82|4.82 4.82|4.82 0.62117|0.62117 Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.74898|0.74898 0.3777|0.3777 M|M 0.75264|0.75264 2.295|2.295 0.80722|0.80722 D|D 1|1 P;P|. 0.51351|. 0.944;0.944|. P;P|. 0.54629|. 0.757;0.757|. T|T 0.78081|0.78081 -0.2343|-0.2343 10|6 0.56958|0.59425 D|D 0.05|0.04 .|. 14.6645|14.6645 0.68896|0.68896 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. 253;253|. B2RNB2;P78536|. .;ADA17_HUMAN|. V|S 253|256 ENSP00000309968:E253V;ENSP00000418728:E253V|. ENSP00000309968:E253V|ENSP00000439780:R256S E|R -|- 2|3 0|2 ADAM17|ADAM17 9580914|9580914 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.967000|0.967000 0.64934|0.64934 7.655000|7.655000 0.83696|0.83696 1.927000|1.927000 0.55829|0.55829 0.402000|0.402000 0.26972|0.26972 GAG|AGA TCGA-2J-AABH-01A-21D-A40W-08 ADAM17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206857.1 1 0 1 72 227 0 95 1 9.977470e-01 5 27 0 95 2 0 0 0 0 0 2 1 1.000000 71 225 0 92 2 -20.000000 1 1 0 0 1 1 2 3 2.049523 0 0.490000 1.910000 0.491246 0.980000 7.900000e-01 1.000000 1.000000 0.953875 0.980000 1 0.880000 1.000000 VEPH1 79674 broad.mit.edu 37 3 156978980 156978980 + Silent SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr3:156978980G>A ENST00000362010.2 - 14 2752 c.2445C>T c.(2443-2445)aaC>aaT p.N815N RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|RP11-550I24.2_ENST00000475102.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CAACTGCCACGTTGATGCACT 0.448000 0 SO:0001819 synonymous_variant ENST00000362010.2 1 1 hg19 CCDS3179.1 TCGA-2J-AABH-01A-21D-A40W-08 VEPH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351845.3 1 0 1 77 238 0 101 0 5.433077e-01 0 7 0 101 2 0 0 0 0 0 2 1 1.000000 77 234 0 99 2 -20.000000 1 1 0 0 1 1 2 3 2.050751 0 0.490000 1.910000 0.491246 0.990000 8.100000e-01 1.000000 1.000000 0.962334 0.990000 1 0.900000 1.000000 MAN2B2 23324 broad.mit.edu 37 4 6596365 6596365 + Missense_Mutation SNP G G C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr4:6596365G>C ENST00000285599.3 + 7 999 c.963G>C c.(961-963)caG>caC p.Q321H MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 30 TCTCGGTGCAGTATGCCACGC 0.597000 0 SO:0001583 missense ENST00000285599.3 1 1 hg19 CCDS33951.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 5.976|5.976 0.364000|0.364000 0.11296|0.11296 .|. .|. ENSG00000013288|ENSG00000013288 ENST00000285599;ENST00000504248|ENST00000505907 T;T|. 0.75477|. -0.94;-0.94|. 4.52|4.52 2.36|2.36 0.29203|0.29203 Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|. 0.424218|. 0.26072|. N|. 0.026512|. T|T 0.62122|0.62122 0.2402|0.2402 M|M 0.70842|0.70842 2.15|2.15 0.37979|0.37979 D|D 0.93354|0.93354 B;B;B|. 0.18310|. 0.012;0.012;0.027|. B;B;B|. 0.24848|. 0.056;0.037;0.043|. T|T 0.62793|0.62793 -0.6779|-0.6779 10|5 0.16896|. T|. 0.51|. -10.2461|-10.2461 6.7447|6.7447 0.23454|0.23454 0.195:0.1512:0.6539:0.0|0.195:0.1512:0.6539:0.0 .|. 270;321;321|. E9PCD7;Q9Y2E5;Q9Y2E5-2|. .;MA2B2_HUMAN;.|. H|T 321;270|320 ENSP00000285599:Q321H;ENSP00000423129:Q270H|. ENSP00000285599:Q321H|. Q|S +|+ 3|2 2|0 MAN2B2|MAN2B2 6647266|6647266 1.000000|1.000000 0.71417|0.71417 0.631000|0.631000 0.29282|0.29282 0.187000|0.187000 0.23431|0.23431 4.173000|4.173000 0.58249|0.58249 0.891000|0.891000 0.36235|0.36235 0.543000|0.543000 0.68304|0.68304 CAG|AGT TCGA-2J-AABH-01A-21D-A40W-08 MAN2B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359106.2 1 0 1 35 109 0 36 1 9.998610e-01 6 41 0 36 2 0 0 0 0 0 2 1 1.000000 34 108 0 36 2 -20.000000 1 1 0 0 1 1 2 3 2.055690 0 0.490000 1.910000 0.491246 0.990000 7.200000e-01 1.000000 1.000000 0.943186 0.990000 1 0.850000 1.000000 SORCS2 57537 broad.mit.edu 37 4 7666172 7666172 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr4:7666172G>A ENST00000507866.2 + 7 1154 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 42 GTCTCTGACCGTGCAGGACGA 0.532000 0 SO:0001583 missense ENST00000507866.2 1 1 hg19 CCDS47008.1 . . . . . . . . . . G 15.05 2.717578 0.48622 0.0 1.2E-4 ENSG00000184985 ENST00000507866;ENST00000329016 T;T 0.49139 0.79;0.79 4.82 3.07 0.35406 VPS10 (1); 0.297174 0.26539 N 0.023820 T 0.59059 0.2166 M 0.65975 2.015 0.48236 D 0.999617 D;D 0.76494 0.997;0.999 P;P 0.61328 0.808;0.887 T 0.56098 -0.8035 10 0.46703 T 0.11 . 9.0836 0.36567 0.0834:0.1487:0.7679:0.0 . 177;349 B5MED8;Q96PQ0 .;SORC2_HUMAN M 349;177 ENSP00000422185:V349M;ENSP00000329124:V177M ENSP00000329124:V177M V + 1 0 SORCS2 7717072 1.000000 0.71417 0.695000 0.30226 0.364000 0.29643 4.341000 0.59335 0.443000 0.26582 0.655000 0.94253 GTG TCGA-2J-AABH-01A-21D-A40W-08 SORCS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358685.4 1 0 1 27 103 0 55 0 1.180461e-01 0 3 0 55 2 0 0 0 0 0 2 1 1.000000 27 102 0 54 2 -18.795580 1 1 120896 12 38 1 1 2 3 2.055690 0 0.490000 1.910000 0.491246 0.850000 5.900000e-01 1.000000 1.000000 0.846901 0.850000 1 0.710000 1.000000 PCDHA7 56141 broad.mit.edu 37 5 140214165 140214165 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:140214165C>T ENST00000525929.1 + 1 197 c.197C>T c.(196-198)gCg>gTg p.A66V PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTTCCGGGCGGTGTGCAAA 0.617000 NSCLC(160;258 2013 5070 22440 28951) 0 SO:0001583 missense ENST00000525929.1 1 1 hg19 CCDS54918.1 . . . . . . . . . . C 0.014 -1.605859 0.00842 . . ENSG00000204963 ENST00000525929;ENST00000378125 T;T 0.19938 2.11;2.11 4.17 0.291 0.15732 Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1); . . . . T 0.03871 0.0109 N 0.00226 -1.805 0.22511 N 0.999038 B;B 0.06786 0.0;0.001 B;B 0.04013 0.001;0.001 T 0.40776 -0.9545 9 0.02654 T 1 . 10.1587 0.42838 0.0:0.1593:0.0:0.8407 . 66;66 Q9UN72-2;Q9UN72 .;PCDA7_HUMAN V 66 ENSP00000436426:A66V;ENSP00000367365:A66V ENSP00000367365:A66V A + 2 0 PCDHA7 140194349 0.300000 0.24435 0.998000 0.56505 0.148000 0.21650 3.486000 0.53215 0.121000 0.18284 -1.817000 0.00601 GCG TCGA-2J-AABH-01A-21D-A40W-08 PCDHA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372887.2 1 0 1 170 589 0 228 0 0 0 0 228 2 0 0 0 0 0 2 1 1.000000 164 583 0 226 2 -20.000000 1 1 121412 2 37 1 1 2 3 2.053985 0 0.490000 1.910000 0.491246 0.910000 7.900000e-01 1.000000 1.000000 0.915200 0.910000 1 0.850000 0.980000 MTMR12 54545 broad.mit.edu 37 5 32229910 32229910 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:32229910C>T ENST00000382142.3 - 16 2388 c.2218G>A c.(2218-2220)Gag>Aag p.E740K MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 34 TCCACGAACTCATCTTCTCGT 0.507000 0 SO:0001583 missense ENST00000382142.3 1 1 hg19 CCDS34138.1 . . . . . . . . . . C 25.0 4.588664 0.86851 . . ENSG00000150712 ENST00000280285;ENST00000382142;ENST00000264934 D;D;D 0.97328 -4.34;-3.66;-3.8 5.02 5.02 0.67125 . 0.351538 0.29480 N 0.012035 D 0.97071 0.9043 L 0.27053 0.805 0.32367 N 0.556418 D;D;D 0.71674 0.996;0.998;0.997 D;D;D 0.80764 0.99;0.994;0.985 D 0.97979 1.0348 10 0.87932 D 0 . 17.9465 0.89040 0.0:1.0:0.0:0.0 . 630;686;740 Q9C0I1-3;Q9C0I1-2;Q9C0I1 .;.;MTMRC_HUMAN K 686;740;630 ENSP00000280285:E686K;ENSP00000371577:E740K;ENSP00000264934:E630K ENSP00000264934:E630K E - 1 0 MTMR12 32265667 1.000000 0.71417 1.000000 0.80357 0.773000 0.43773 5.863000 0.69568 2.327000 0.79052 0.462000 0.41574 GAG TCGA-2J-AABH-01A-21D-A40W-08 MTMR12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366579.1 1 0 1 59 177 0 86 1 9.999998e-01 17 57 0 86 2 0 0 0 0 0 2 1 1.000000 59 175 0 86 2 -4.787850 1 1 0 0 1 0 0 0 2.042446 0 0.490000 1.910000 0.490000 0.990000 8.000000e-01 1.000000 1.000000 0.965800 0.990000 1 0.900000 1.000000 ENC1 8507 broad.mit.edu 37 5 73930609 73930609 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:73930609T>C ENST00000302351.4 - 2 2832 c.1702A>G c.(1702-1704)Atc>Gtc p.I568V ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) ACAGTGGTGATGCTGTTCCAC 0.473000 0 SO:0001583 missense ENST00000302351.4 1 1 hg19 CCDS4021.1 . . . . . . . . . . T 6.562 0.471920 0.12461 . . ENSG00000171617 ENST00000302351;ENST00000510316;ENST00000537006 T;T;T 0.75938 -0.98;-0.98;-0.98 5.75 4.58 0.56647 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 T 0.48768 0.1518 N 0.05124 -0.11 0.54753 D 0.999989 B 0.10296 0.003 B 0.14023 0.01 T 0.45160 -0.9280 10 0.02654 T 1 . 11.5467 0.50698 0.0:0.0698:0.0:0.9302 . 568 O14682 ENC1_HUMAN V 568;495;568 ENSP00000306356:I568V;ENSP00000423804:I495V;ENSP00000446289:I568V ENSP00000306356:I568V I - 1 0 ENC1 73966365 1.000000 0.71417 0.991000 0.47740 0.939000 0.58152 5.167000 0.64972 1.001000 0.39076 0.459000 0.35465 ATC TCGA-2J-AABH-01A-21D-A40W-08 ENC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219862.2 1 0 1 41 108 0 43 1 1 14 102 0 43 2 0 0 0 0 0 2 1 1.000000 41 106 0 41 2 -20.000000 1 1 0 0 1 1 2 3 2.053985 0 0.490000 1.910000 0.491246 0.990000 8.400000e-01 1.000000 1.000000 0.985617 0.990000 1 0.970000 1.000000 CMYA5 202333 broad.mit.edu 37 5 79031709 79031709 + Nonsense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr5:79031709C>A ENST00000446378.2 + 2 7152 c.7121C>A c.(7120-7122)tCa>tAa p.S2374* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) AAACAAAAATCACTCCTTTCA 0.368000 0 SO:0001587 stop_gained ENST00000446378.2 0 1 hg19 CCDS47238.1 . . . . . . . . . . C 46 12.721702 0.99691 . . ENSG00000164309 ENST00000446378 . . . 5.65 -0.142 0.13448 . 2.581580 0.01232 N 0.008365 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.08837 T 0.75 . 0.8303 0.01129 0.16:0.3584:0.1561:0.3255 . . . . X 2374 . ENSP00000394770:S2374X S + 2 0 CMYA5 79067465 0.000000 0.05858 0.015000 0.15790 0.868000 0.49771 -0.713000 0.05007 0.051000 0.15978 0.655000 0.94253 TCA TCGA-2J-AABH-01A-21D-A40W-08 CMYA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369497.1 1 0 1 39 157 0 49 0 0 0 0 49 2 0 0 0 0 0 2 1 1.000000 39 156 0 49 2 -20.000000 1 1 0 0 1 1 2 3 2.053985 0 0.490000 1.910000 0.491246 0.810000 6.000000e-01 1.000000 1.000000 0.818348 0.810000 0 0.700000 0.940000 AGER 177 broad.mit.edu 37 6 32151673 32151673 + Silent SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr6:32151673C>T ENST00000375076.4 - 2 245 c.144G>A c.(142-144)cgG>cgA p.R48R AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375065.5_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.R48R NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 9 TCCATTCCAGCCGCTGGGGTG 0.582000 0 SO:0001819 synonymous_variant ENST00000375076.4 1 1 hg19 CCDS4746.1 TCGA-2J-AABH-01A-21D-A40W-08 AGER-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076200.1 1 0 0 46 238 0 72 1 6.892885e-01 4 10 0 72 2 0 0 0 0 0 2 1 1.000000 44 235 0 70 2 -19.999860 1 1 0 0 1 0 1 1 1.975518 0 0.490000 1.910000 0.474552 0.630000 4.800000e-01 0.810000 0.640000 0.648506 0.630000 0 0.550000 0.730000 PRPS1L1 221823 broad.mit.edu 37 7 18067087 18067087 + Missense_Mutation SNP T T C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:18067087T>C ENST00000506618.2 - 1 399 c.319A>G c.(319-321)Atc>Gtc p.I107V NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TTGGCAGAGATTGGGGACCGG 0.463000 0 SO:0001583 missense ENST00000506618.2 1 1 hg19 CCDS47552.1 . . . . . . . . . . T 15.27 2.784786 0.49997 2.27E-4 0.0 ENSG00000229937 ENST00000506618 D 0.92699 -3.09 4.47 4.47 0.54385 . . . . . D 0.94182 0.8133 M 0.73962 2.25 . . . B 0.28055 0.199 P 0.46275 0.51 D 0.96505 0.9374 8 0.87932 D 0 . 12.0361 0.53425 0.0:0.0:0.0:1.0 . 107 P21108 PRPS3_HUMAN V 107 ENSP00000424595:I107V ENSP00000424595:I107V I - 1 0 PRPS1L1 18033612 1.000000 0.71417 0.454000 0.27019 0.835000 0.47333 5.212000 0.65225 2.014000 0.59158 0.528000 0.53228 ATC TCGA-2J-AABH-01A-21D-A40W-08 PRPS1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327667.1 1 0 1 96 339 0 181 0 0 0 0 181 2 0 0 0 0 0 2 1 1.000000 94 333 0 178 2 -20.000000 1 1 121412 2 37 1 0 0 0 2.030770 0 0.490000 1.910000 0.487489 0.890000 7.400000e-01 1.000000 1.000000 0.894876 0.890000 1 0.810000 0.980000 ABCB1 5243 broad.mit.edu 37 7 87138791 87138791 + Missense_Mutation SNP C C A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr7:87138791C>A ENST00000265724.3 - 27 3706 c.3289G>T c.(3289-3291)Gat>Tat p.D1097Y ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 111 Esophageal squamous(14;0.00164) Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495) TCTTTGCCATCAAGCAGCTGA 0.453000 0 SO:0001583 missense ENST00000265724.3 1 1 hg19 CCDS5608.1 . . . . . . . . . . C 29.5 5.009182 0.93346 . . ENSG00000085563 ENST00000543174;ENST00000265724;ENST00000543898 D;D 0.92199 -2.99;-2.99 5.86 5.86 0.93980 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.045706 0.85682 D 0.000000 D 0.96614 0.8895 M 0.86028 2.79 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.96715 0.9528 10 0.87932 D 0 -28.0757 19.1758 0.93602 0.0:1.0:0.0:0.0 . 1033;1097 B5AK60;P08183 .;MDR1_HUMAN Y 878;1097;1033 ENSP00000265724:D1097Y;ENSP00000444095:D1033Y ENSP00000265724:D1097Y D - 1 0 ABCB1 86976727 1.000000 0.71417 0.110000 0.21437 0.346000 0.29079 7.810000 0.86072 2.765000 0.95021 0.655000 0.94253 GAT TCGA-2J-AABH-01A-21D-A40W-08 ABCB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335444.2 1 0 1 36 155 0 63 0 9.981705e-01 0 45 0 63 2 0 0 0 0 0 2 1 1.000000 36 154 0 61 2 -20.000000 1 1 0 0 1 0 1 1 2.039687 0 0.490000 1.910000 0.488747 0.760000 5.500000e-01 0.990000 0.760000 0.774714 0.760000 0 0.650000 0.890000 ARC 23237 broad.mit.edu 37 8 143694586 143694586 + Silent SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:143694586G>T ENST00000356613.2 - 1 2247 c.1047C>A c.(1045-1047)atC>atA p.I349I ARC_ENST00000581404.1_5'Flank NM_015193.4 NP_056008.1 O60936 NOL3_HUMAN activity-regulated cytoskeleton-associated protein 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TGCCCCTCTGGATGAGCTGCT 0.697000 0 SO:0001819 synonymous_variant ENST00000356613.2 1 1 hg19 CCDS34950.1 TCGA-2J-AABH-01A-21D-A40W-08 ARC-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259274.2 1 0 1 60 243 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 59 240 0 39 2 -20.000000 1 0 0 0 1 2 8 10 4.208417 1 0.490000 1.910000 0.754572 0.990000 9.900000e-01 1.000000 1.000000 0.999999 0.990000 1 0.990000 1.000000 ARHGAP39 80728 broad.mit.edu 37 8 145756121 145756121 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr8:145756121G>A ENST00000276826.5 - 9 3223 c.3022C>T c.(3022-3024)Cgc>Tgc p.R1008C C8orf82_ENST00000524821.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|C8orf82_ENST00000313465.5_5'Flank Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 22 AGCACCATGCGGTTGATGCGG 0.721000 0 SO:0001583 missense ENST00000276826.5 0 1 hg19 . . . . . . . . . . G 23.1 4.379235 0.82682 . . ENSG00000147799 ENST00000276826;ENST00000377307;ENST00000540274 T;T;T 0.22134 1.97;1.97;1.97 5.19 4.22 0.49857 Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1); 0.342077 0.28247 N 0.016055 T 0.45657 0.1353 M 0.92970 3.365 0.48341 D 0.999631 D;P 0.61080 0.989;0.872 P;B 0.53722 0.733;0.431 T 0.58956 -0.7544 10 0.87932 D 0 -35.1021 11.8975 0.52663 0.0:0.0:0.7901:0.2099 . 1008;1039 Q9C0H5;Q9C0H5-2 RHG39_HUMAN;. C 1008;1039;1008 ENSP00000276826:R1008C;ENSP00000366522:R1039C;ENSP00000445075:R1008C ENSP00000276826:R1008C R - 1 0 ARHGAP39 145726929 0.995000 0.38212 1.000000 0.80357 0.993000 0.82548 2.311000 0.43717 2.414000 0.81942 0.561000 0.74099 CGC TCGA-2J-AABH-01A-21D-A40W-08 ARHGAP39-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000382509.1 1 0 0 19 121 0 16 0 8.777707e-01 1 25 0 16 2 0 0 0 0 0 2 1 0.999994 19 120 0 16 2 -20.000000 1 1 120422 3 23 1 2 6 8 4.301474 1 0.490000 1.910000 0.757432 0.990000 7.600000e-01 1.000000 1.000000 0.979150 0.990000 1 0.980000 1.000000 ANGPTL2 23452 broad.mit.edu 37 9 129851341 129851341 + Nonsense_Mutation SNP G G T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chr9:129851341G>T ENST00000373425.3 - 5 1976 c.1359C>A c.(1357-1359)taC>taA p.Y453* RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151* NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 18 GGCCCCCGCGGTACCAGACCC 0.582000 0 SO:0001587 stop_gained ENST00000373425.3 0 1 hg19 CCDS6868.1 . . . . . . . . . . G 42 9.542895 0.99199 . . ENSG00000136859 ENST00000373425;ENST00000373417 . . . 4.98 4.09 0.47781 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.06236 T 0.91 . 9.3322 0.38030 0.185:0.0:0.815:0.0 . . . . X 453;151 . ENSP00000362516:Y151X Y - 3 2 ANGPTL2 128891162 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.766000 0.38491 1.221000 0.43506 0.655000 0.94253 TAC TCGA-2J-AABH-01A-21D-A40W-08 ANGPTL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054129.1 1 0 1 119 407 0 146 1 9.999458e-01 3 48 0 146 2 0 0 0 0 0 2 1 1.000000 117 401 0 144 2 -20.000000 1 1 0 0 1 0 0 0 2.048222 0 0.490000 1.910000 0.490000 0.910000 7.700000e-01 1.000000 1.000000 0.919202 0.910000 1 0.840000 1.000000 ARHGAP36 158763 broad.mit.edu 37 X 130220336 130220336 + Missense_Mutation SNP C C T TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:130220336C>T ENST00000276211.5 + 10 1660 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 p.R439C(1) 71 GGTTGCTAAGCGCGTGTGGAA 0.453000 1 Substitution - Missense(1) SO:0001583 missense ENST00000276211.5 1 1 hg19 CCDS14628.1 . . . . . . . . . . C 11.52 1.662549 0.29515 . . ENSG00000147256 ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921 T;T;T;T 0.10860 2.83;2.83;2.84;2.86 4.69 2.74 0.32292 . 0.000000 0.45126 D 0.000397 T 0.12433 0.0302 N 0.08118 0 0.43430 D 0.995599 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.72338 0.977;0.977;0.948 T 0.15150 -1.0447 10 0.51188 T 0.08 . 8.361 0.32359 0.4276:0.5724:0.0:0.0 . 408;427;439 Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8 .;.;RHG36_HUMAN C 439;427;408;303 ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C ENSP00000276211:R439C R + 1 0 ARHGAP36 130048017 0.993000 0.37304 0.999000 0.59377 0.117000 0.20001 0.628000 0.24522 1.059000 0.40554 0.600000 0.82982 CGC TCGA-2J-AABH-01A-21D-A40W-08 ARHGAP36-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355073.1 1 0 1 72 93 0 52 0 0 0 0 52 2 0 0 0 0 0 2 1 1.000000 70 91 0 52 2 -14.777580 1 1 0 0 1 0 1 1 0.490000 1.910000 0.490000 0.870000 7.200000e-01 0.990000 0.890000 0.874874 0.870000 1 0.800000 0.950000 TREX2 11219 broad.mit.edu 37 X 152710707 152710707 + Missense_Mutation SNP G G A TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90d5b7cb-2d22-4b49-b1af-f9593da996c5 796dcb9d-4215-4771-9aca-179834a65836 g.chrX:152710707G>A ENST00000334497.2 - 11 1452 c.311C>T c.(310-312)aCg>aTg p.T104M TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATGCACAGCGTGAGCTTGTC 0.657000 Editing and processing nucleases 0 SO:0001583 missense ENST00000334497.2 1 1 hg19 . . . . . . . . . . G 15.24 2.773557 0.49786 . . ENSG00000183479 ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231 T;T;T;T;T;T;T;T 0.22134 1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97 5.04 5.04 0.67666 Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1); 0.314529 0.22446 U 0.059948 T 0.41789 0.1174 M 0.64170 1.965 0.33352 D 0.571157 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.998 T 0.56595 -0.7953 10 0.66056 D 0.02 -21.5773 10.799 0.46476 0.0:0.1874:0.8126:0.0 . 103;104 Q06S70;Q9BQ50 .;TREX2_HUMAN M 61;61;61;104;104;104;103;61 ENSP00000377442:T61M;ENSP00000333441:T61M;ENSP00000345218:T61M;ENSP00000334993:T104M;ENSP00000359252:T104M;ENSP00000386078:T104M;ENSP00000401692:T103M;ENSP00000359251:T61M ENSP00000333441:T61M T - 2 0 TREX2 152363901 1.000000 0.71417 0.930000 0.37139 0.399000 0.30720 4.237000 0.58681 2.082000 0.62665 0.529000 0.55759 ACG TCGA-2J-AABH-01A-21D-A40W-08 TREX2-001 KNOWN alternative_5_UTR|basic protein_coding protein_coding OTTHUMT00000060966.1 1 0 1 29 37 0 24 0 1.925466e-01 1 1 0 24 2 0 0 0 0 0 2 1 1.000000 28 37 0 24 2 -20.000000 1 1 121306 5 32 1 0 1 1 0.490000 1.910000 0.490000 0.850000 6.400000e-01 0.990000 0.880000 0.849707 0.850000 1 0.740000 0.950000