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 PPRC1 23082 broad.mit.edu 37 10 103907023 103907023 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr10:103907023G>A ENST00000278070.2 + 9 4313 c.4274G>A c.(4273-4275)cGc>cAc p.R1425H PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 56 Colorectal(252;0.122) CGCCGAGGCCGCAACAGCCGT 0.627000 0 SO:0001583 missense ENST00000278070.2 0 1 hg19 CCDS7529.1 . . . . . . . . . . G 9.681000 1.149221 0.212880 . . ENSG00000148840 ENST00000278070;ENST00000370012 T;T 0.37915 1.55;1.17 5.040000 3.190000 0.366420 . 0.407952 0.26903 N 0.021907 T 0.26011 0.0634 L 0.31926 0.97 0.807220 D 1.000000 B;B 0.19817 0.039;0.023 B;B 0.17433 0.018;0.005 T 0.04454 -1.0950 10 0.21014 T 0.42 . 11.965900 0.530350 0.1434:0.0:0.8566:0.0 . 1305;1425 Q5VV67-2;Q5VV67 .;PPRC1_HUMAN H 1425;392 ENSP00000278070:R1425H;ENSP00000359029:R392H ENSP00000278070:R1425H R + 2 0 PPRC1 103897013 1 0.714170 1.000000 0.803570 0.431000 0.316850 2.955000 0.491210 0.805000 0.341590 -0.379000 0.068010 CGC TCGA-2J-AABV-01A-12D-A40W-08 PPRC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050021.1 0 0 0 5 419 0 100 0 9.240606e-02 0 35 0 100 2 0 0 0 0 0 2 1 0.925495 5 391 0 98 2 -2.257454 0 1 121412 2 37 1 1 2 3 2.034036 0 0.110000 2.010000 0.122548 0.260000 0.090000 1.000000 0.210000 0.392621 0.260000 0 1.600000e-01 1 ARHGAP22 58504 broad.mit.edu 37 10 49791051 49791051 + Silent SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr10:49791051G>A ENST00000249601.4 - 2 477 c.181C>T c.(181-183)Ctg>Ttg p.L61L ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 18 TCCCCACGCAGCACAAACCAG 0.607000 0 SO:0001819 synonymous_variant ENST00000249601.4 0 1 hg19 CCDS7227.1 TCGA-2J-AABV-01A-12D-A40W-08 ARHGAP22-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000358767.1 0 0 0 6 732 0 183 0 0 0 1 0 183 2 0 0 0 0 0 2 1 0.963710 6 723 0 180 2 -2.166961 0 1 0 0 1 1 2 3 2.034036 0 0.110000 2.010000 0.122548 0.170000 0.060000 1.000000 0.150000 0.325238 0.170000 0 1.100000e-01 1 ATM 472 broad.mit.edu 37 11 108178642 108178642 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr11:108178642G>A ENST00000452508.2 + 39 5882 c.5693G>A c.(5692-5694)cGa>cAa p.R1898Q ATM_ENST00000278616.4_Missense_Mutation_p.R1898Q Q13315 ATM_HUMAN ATM serine/threonine kinase 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Caffeine(DB00201) CACTTTTTCCGATGCTGTTTG 0.398000 D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 SO:0001583 missense Familial Cancer Database AT, Louis-Bar syndrome ENST00000452508.2 1 1 hg19 CCDS31669.1 . . . . . . . . . . G 11.320000 1.603627 0.285340 0.0 1.16E-4 ENSG00000149311 ENST00000278616;ENST00000452508 T;T 0.74632 -0.86;-0.86 6.030000 4.130000 0.483950 Armadillo-type fold (1); 0.264244 0.39274 N 0.001409 T 0.59321 0.2185 L 0.45137 1.4 0.093100 N 1.000000 B 0.15473 0.013 B 0.04013 0.001 T 0.40646 -0.9552 10 0.15066 T 0.55 . 4.579800 0.122530 0.2461:0.0:0.6011:0.1528 . 1898 Q13315 ATM_HUMAN Q 1898 ENSP00000278616:R1898Q;ENSP00000388058:R1898Q ENSP00000278616:R1898Q R + 2 0 ATM 107683852 8.910000e-01 0.304500 0.169000 0.228590 0.982000 0.717510 2.079000 0.415770 0.831000 0.347800 0.655000 0.942530 CGA TCGA-2J-AABV-01A-12D-A40W-08 ATM-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389938.1 0 0 0 6 151 0 46 0 0 0 0 46 2 1 9.999537e-01 17 675 0 323 2 1 0.965897 6 151 0 46 2 -4.021672 1 1 121406 34 45 1 0 1 1 1.997292 0 0.110000 2.010000 0.104583 0.710000 0.300000 1.000000 1.000000 0.718618 0.710000 0 4.700000e-01 1 ARHGEF12 23365 broad.mit.edu 37 11 120352231 120352231 + Silent SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr11:120352231G>A ENST00000397843.2 + 39 4666 c.4500G>A c.(4498-4500)caG>caA p.Q1500Q ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q|ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) CAGATTCACAGAGCCAGATCA 0.458000 T MLL AML Dom yes 11 11q23.3 23365 RHO guanine nucleotide exchange factor (GEF) 12 (LARG) L 0 SO:0001819 synonymous_variant ENST00000397843.2 1 1 hg19 CCDS41727.1 TCGA-2J-AABV-01A-12D-A40W-08 ARHGEF12-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388052.1 0 0 0 10 346 0 128 0 4.556887e-02 1 10 0 128 2 0 0 0 0 0 2 1 0.996710 10 340 0 128 2 -2.920853 1 1 0 0 1 0 1 1 1.997292 0 0.110000 2.010000 0.104583 0.510000 0.260000 0.870000 0.490000 0.541336 0.510000 0 3.700000e-01 6.900000e-01 PACS1 55690 broad.mit.edu 37 11 66009102 66009102 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr11:66009102C>T ENST00000320580.4 + 22 2667 c.2634C>T c.(2632-2634)gtC>gtT p.V878V PACS1_ENST00000529757.1_Silent_p.V414V|PACS1_ENST00000524815.1_Silent_p.V6V NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 RBM14/PACS1(2) 37 TGACTGTGGTCACCAAAGAAA 0.582000 0 SO:0001819 synonymous_variant ENST00000320580.4 0 1 hg19 CCDS8129.1 . . . . . . . . . . C 10.430000 1.347801 0.244260 . . ENSG00000175115 ENST00000529677 . . . 5.420000 4.520000 0.553950 . . . . . T 0.59891 0.2227 . . . 0.807220 D 1.000000 . . . . . . T 0.57917 -0.7728 4 . . . -31.5432 9.219900 0.373700 0.0:0.7753:0.146:0.0787 . . . . Y 62 . . H + 1 0 PACS1 65765678 1 0.714170 1.000000 0.803570 0.998000 0.957120 1.624000 0.370180 1.448000 0.476800 0.655000 0.942530 CAC TCGA-2J-AABV-01A-12D-A40W-08 PACS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391690.2 0 0 0 6 280 0 86 0 1.653729e-02 1 7 0 86 2 0 0 0 0 0 2 1 0.965039 6 279 0 86 2 -3.936919 1 1 0 0 1 0 1 1 1.997292 0 0.110000 2.010000 0.104583 0.400000 0.160000 0.750000 0.360000 0.425942 0.400000 0 2.600000e-01 5.700000e-01 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f 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 27.200000 4.808637 0.907070 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.807220 D 1.000000 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 . 18.371900 0.904090 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 0.714170 1.000000 0.803570 0.998000 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-2J-AABV-01A-12D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 11 220 0 90 0 0 0 1 0 90 2 1 9.999582e-01 16 388 0 162 2 1 0.998334 11 217 0 90 2 -4.629783 1 1 0 0 1 1 2 3 2.072621 0 0.110000 2.010000 0.133356 0.990000 0.500000 1.000000 1.000000 0.892641 0.990000 1 7.100000e-01 1 RAPGEF3 10411 broad.mit.edu 37 12 48144186 48144186 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr12:48144186C>T ENST00000449771.2 - 7 782 c.694G>A c.(694-696)Gag>Aag p.E232K RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E190K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 25 Lung SC(27;0.192) AGGTCCAGCTCTTCATCCGTG 0.647000 0 SO:0001583 missense ENST00000449771.2 0 1 hg19 CCDS41775.1 . . . . . . . . . . C 32.000000 5.106652 0.942920 . . ENSG00000079337 ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322 D;D;D;D;D;D;D;T 0.84516 -1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;0.46 3.900000 3.900000 0.450410 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1); 0.058568 0.64402 D 0.000003 D 0.89378 0.6698 L 0.52011 1.625 0.807220 D 1.000000 D;D;D 0.76494 0.999;0.995;0.991 D;D;P 0.68765 0.96;0.91;0.777 D 0.90439 0.4430 10 0.72032 D 0.01 . 15.705700 0.775800 0.0:1.0:0.0:0.0 . 244;232;232 B7Z5J6;O95398-2;O95398 .;.;RPGF3_HUMAN K 190;232;190;190;190;232;244;190;232;190 ENSP00000384521:E190K;ENSP00000395708:E232K;ENSP00000448619:E190K;ENSP00000171000:E190K;ENSP00000373864:E232K;ENSP00000448480:E190K;ENSP00000378764:E232K;ENSP00000446731:E190K ENSP00000171000:E190K E - 1 0 RAPGEF3 46430453 1 0.714170 1.000000 0.803570 0.945000 0.592860 7.063000 0.767140 2.479000 0.837010 0.655000 0.942530 GAG TCGA-2J-AABV-01A-12D-A40W-08 RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257848.1 0 0 0 6 147 0 42 0 1.285889e-02 0 4 0 42 2 0 0 0 0 0 2 1 0.965217 6 146 0 42 2 -8.916830 1 1 0 0 1 0 1 1 1.989734 0 0.110000 2.010000 0.102596 0.720000 0.310000 1.000000 1.000000 0.729774 0.720000 0 4.800000e-01 1 DDN 23109 broad.mit.edu 37 12 49391585 49391585 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr12:49391585C>T ENST00000421952.2 - 2 1095 c.1074G>A c.(1072-1074)ccG>ccA p.P358P RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 8 GAGCGGGATGCGGGGCACAGG 0.597000 0 SO:0001819 synonymous_variant ENST00000421952.2 0 1 hg19 CCDS31791.2 TCGA-2J-AABV-01A-12D-A40W-08 DDN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343335.1 0 0 0 5 251 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 0.934185 5 245 0 64 2 -3.294345 1 1 0 0 1 0 1 1 1.989734 0 0.110000 2.010000 0.102596 0.370000 0.140000 0.740000 0.330000 0.404851 0.370000 0 2.400000e-01 5.600000e-01 SCN8A 6334 broad.mit.edu 37 12 52145205 52145205 + Nonsense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr12:52145205G>A ENST00000354534.6 + 14 2376 c.2198G>A c.(2197-2199)tGg>tAg p.W733* SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733* NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 55 Valproic Acid(DB00313) TTCCTCATCTGGGAGTGCCAC 0.443000 0 SO:0001587 stop_gained ENST00000354534.6 0 1 hg19 CCDS44891.1 . . . . . . . . . . G 40.000000 7.924604 0.985630 . . ENSG00000196876 ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961 . . . 4.910000 4.910000 0.643300 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 . 18.667000 0.914930 0.0:0.0:1.0:0.0 . . . . X 733;733;733;733;646 . ENSP00000346534:W733X W + 2 0 SCN8A 50431472 1 0.714170 1.000000 0.803570 0.997000 0.918780 9.657000 0.985540 2.727000 0.933920 0.650000 0.862430 TGG TCGA-2J-AABV-01A-12D-A40W-08 SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404372.3 1 0 0 29 663 0 194 0 0 0 0 194 2 0 0 0 0 0 2 1 1.000000 29 649 0 193 2 -2.419650 0 1 0 0 1 0 1 1 1.989734 0 0.110000 2.010000 0.102596 0.750000 0.510000 1.000000 1.000000 0.765723 0.750000 0 6.200000e-01 9.000000e-01 DGKA 1606 broad.mit.edu 37 12 56333270 56333270 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr12:56333270C>T ENST00000331886.5 + 9 1120 c.666C>T c.(664-666)tgC>tgT p.C222C DGKA_ENST00000551156.1_Silent_p.C222C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.C222C NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 25 Vitamin E(DB00163) GCAATCTGTGCGAGTCAAGCA 0.557000 0 SO:0001819 synonymous_variant ENST00000331886.5 0 1 hg19 CCDS8896.1 TCGA-2J-AABV-01A-12D-A40W-08 DGKA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407291.1 0 0 0 6 587 0 146 0 0 0 0 146 2 0 0 0 0 0 2 1 0.963042 6 576 0 145 2 -2.179401 0 1 121412 1 34 1 0 1 1 1.989734 0 0.110000 2.010000 0.102596 0.190000 0.070000 0.370000 0.180000 0.209016 0.190000 0 1.200000e-01 2.800000e-01 METTL3 56339 broad.mit.edu 37 14 21967676 21967676 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr14:21967676C>T ENST00000298717.4 - 8 1563 c.1412G>A c.(1411-1413)cGt>cAt p.R471H NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GTGACCTGTACGGCCTGTCCG 0.443000 0 SO:0001583 missense ENST00000298717.4 1 1 hg19 CCDS32044.1 . . . . . . . . . . C 24.400000 4.527083 0.857060 . . ENSG00000165819 ENST00000298717 T 0.43688 0.94 4.900000 4.020000 0.467330 . 0.000000 0.85682 D 0.000000 T 0.64681 0.2620 M 0.82132 2.575 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 T 0.69822 -0.5041 10 0.87932 D 0 -9.3172 12.398300 0.553970 0.0:0.9167:0.0:0.0833 . 471 Q86U44 MTA70_HUMAN H 471 ENSP00000298717:R471H ENSP00000298717:R471H R - 2 0 METTL3 21037516 1 0.714170 0.994000 0.499520 0.991000 0.796840 7.059000 0.766840 1.300000 0.448180 0.460000 0.390300 CGT TCGA-2J-AABV-01A-12D-A40W-08 METTL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401227.1 0 0 0 24 719 1 201 1 2.540641e-01 6 23 1 201 2 0 0 0 0 0 2 1 0.962688 24 712 1 200 14 -2.826855 1 0 0 0 1 1 2 3 2.021859 0 0.110000 2.010000 0.120162 0.620000 0.390000 1.000000 0.600000 0.672269 0.620000 0 4.900000e-01 9.900000e-01 ALKBH1 8846 broad.mit.edu 37 14 78174236 78174236 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr14:78174236C>T ENST00000216489.3 - 1 127 c.112G>A c.(112-114)Gca>Aca p.A38T SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 9 Kidney(204;0.164) TCCAGGTCTGCGGTCCCGGGC 0.672000 0 SO:0001583 missense ENST00000216489.3 0 1 hg19 CCDS32127.1 . . . . . . . . . . C 15.640000 2.892759 0.521210 . . ENSG00000100601 ENST00000216489 T 0.31510 1.49 5.960000 1.950000 0.260730 . 0.343898 0.33792 N 0.004541 T 0.17662 0.0424 M 0.62723 1.935 0.093100 N 1.000000 P 0.42161 0.772 B 0.27262 0.078 T 0.17198 -1.0377 10 0.22109 T 0.4 -9.2796 2.060900 0.035920 0.1977:0.4796:0.1109:0.2118 . 38 Q13686 ALKB1_HUMAN T 38 ENSP00000216489:A38T ENSP00000216489:A38T A - 1 0 ALKBH1 77243989 1.100000e-02 0.175030 0.035000 0.180760 0.797000 0.450370 -0.010000 0.127430 0.423000 0.260330 0.655000 0.942530 GCA TCGA-2J-AABV-01A-12D-A40W-08 ALKBH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414037.1 0 0 0 5 350 0 83 0 3.286231e-04 0 2 0 83 2 0 0 0 0 0 2 1 0.933661 5 341 0 83 2 -2.647650 1 1 121366 1 28 1 1 2 3 2.001128 0 0.110000 2.010000 0.115352 0.290000 0.100000 1.000000 0.250000 0.362945 0.290000 0 1.800000e-01 4.900000e-01 HERC2 8924 broad.mit.edu 37 15 28370319 28370319 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr15:28370319C>T ENST00000261609.7 - 84 12931 c.12823G>A c.(12823-12825)Gac>Aac p.D4275N NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) TCATCATTGTCGCCCCATGTA 0.522000 0 SO:0001583 missense ENST00000261609.7 1 1 hg19 CCDS10021.1 . . . . . . . . . . C 35.000000 5.539421 0.964740 . . ENSG00000128731 ENST00000261609 D 0.84298 -1.83 5.190000 5.190000 0.717260 Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2); 0.000000 0.85682 D 0.000000 D 0.86924 0.6050 N 0.16833 0.445 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.87797 0.2622 10 0.42905 T 0.14 . 18.720100 0.916890 0.0:1.0:0.0:0.0 . 4275 O95714 HERC2_HUMAN N 4275 ENSP00000261609:D4275N ENSP00000261609:D4275N D - 1 0 HERC2 26043914 1 0.714170 0.996000 0.522420 0.992000 0.810270 7.808000 0.860440 2.408000 0.817970 0.655000 0.942530 GAC TCGA-2J-AABV-01A-12D-A40W-08 HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251358.2 0 0 0 29 1062 0 306 0 4.486779e-03 0 4 0 306 2 0 0 0 0 0 2 1 1.000000 29 1043 0 303 2 -2.466240 0 1 0 0 1 0 0 0 1.963904 0 0.110000 2.010000 0.088955 0.470000 0.320000 0.650000 0.470000 0.482943 0.470000 0 3.900000e-01 5.700000e-01 CX3CL1 6376 broad.mit.edu 37 16 57413650 57413650 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr16:57413650G>A ENST00000006053.6 + 2 286 c.175G>A c.(175-177)Ggc>Agc p.G59S CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000565912.1_Missense_Mutation_p.G21S NM_002996.3 NP_002987.1 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 p.G59C(1) 5 GGCATCATGCGGCAAACGCGC 0.512000 1 Substitution - Missense(1) SO:0001583 missense ENST00000006053.6 1 1 hg19 CCDS10779.1 . . . . . . . . . . G 6.658000 0.489915 0.127020 . . ENSG00000006210 ENST00000006053 T 0.12569 2.67 3.000000 1.040000 0.201060 Chemokine interleukin-8-like domain (3); 1.124180 0.06795 N 0.787674 T 0.06188 0.0160 N 0.04880 -0.145 0.093100 N 1.000000 P 0.43885 0.82 B 0.35770 0.21 T 0.28332 -1.0047 10 0.87932 D 0 -9.8139 5.723300 0.179980 0.2286:0.0:0.7714:0.0 . 59 P78423 X3CL1_HUMAN S 59 ENSP00000006053:G59S ENSP00000006053:G59S G + 1 0 CX3CL1 55971151 0 0.058580 0.002000 0.105220 0.022000 0.105750 0.291000 0.189940 0.341000 0.237710 0.460000 0.390300 GGC TCGA-2J-AABV-01A-12D-A40W-08 CX3CL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257345.3 0 0 0 8 312 0 95 0 8.653347e-04 0 2 0 95 2 0 0 0 0 0 2 1 0.989329 8 310 0 95 2 -2.651463 1 1 0 0 1 1 2 3 2.000755 0 0.110000 2.010000 0.115352 0.490000 0.220000 1.000000 0.450000 0.543123 0.490000 0 3.400000e-01 7.500000e-01 KRT33A 3883 broad.mit.edu 37 17 39506938 39506938 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr17:39506938C>T ENST00000007735.3 - 1 126 c.82G>A c.(82-84)Ggc>Agc p.G28S NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 21 Breast(137;0.000496) AGGGTGCAGCCGTGGCAGCTG 0.642000 0 SO:0001583 missense ENST00000007735.3 0 1 hg19 CCDS11388.1 . . . . . . . . . . C 11.150000 1.552601 0.277390 . . ENSG00000006059 ENST00000007735 D 0.81579 -1.51 5.090000 -4.820000 0.031710 . 0.804604 0.11801 N 0.528143 T 0.62097 0.2400 N 0.12746 0.255 0.093100 N 1.000000 B 0.16166 0.016 B 0.11329 0.006 T 0.40887 -0.9539 10 0.33940 T 0.23 . 14.440500 0.673140 0.0:0.8319:0.0:0.1681 . 28 O76009 KT33A_HUMAN S 28 ENSP00000007735:G28S ENSP00000007735:G28S G - 1 0 KRT33A 36760464 0 0.058580 0.002000 0.105220 0.875000 0.503650 -0.320000 0.080280 -0.820000 0.043180 -0.262000 0.106250 GGC TCGA-2J-AABV-01A-12D-A40W-08 KRT33A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257295.1 0 0 0 9 322 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 0.993632 8 315 0 88 2 -3.558084 1 1 121360 6 38 1 1 2 3 2.031923 0 0.110000 2.010000 0.122072 0.560000 0.260000 1.000000 0.490000 0.623014 0.560000 0 3.800000e-01 1 HN1 51155 broad.mit.edu 37 17 73132223 73132223 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr17:73132223C>T ENST00000409753.3 - 5 724 c.439G>A c.(439-441)Ggc>Agc p.G147S HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000476258.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S|RP11-649A18.5_ENST00000584339.1_RNA NM_016185.2 NP_057269.1 Q9UK76 HN1_HUMAN hematological and neurological expressed 1 HN1/USH1G(2) 1 all_lung(278;0.14)|Lung NSC(278;0.168) CTGGACTTGCCGCCAGGGGGA 0.617000 0 SO:0001583 missense ENST00000409753.3 0 1 hg19 CCDS45771.1 . . . . . . . . . . C 34.000000 5.394833 0.960090 . . ENSG00000189159 ENST00000405458;ENST00000409753;ENST00000392566 . . . 5.870000 5.870000 0.943060 . . . . . D 0.83403 0.5247 . . . 0.517670 D 0.999934 D 0.89917 1.0 D 0.91635 0.999 D 0.84802 0.0785 7 0.87932 D 0 -34.3147 18.382100 0.904540 0.0:1.0:0.0:0.0 . 147 Q9UK76 HN1_HUMAN S 101;147;101 . ENSP00000440912:G101S G - 1 0 HN1 70643818 9.980000e-01 0.408360 0.969000 0.413650 0.961000 0.630800 4.949000 0.635960 2.773000 0.953710 0.643000 0.837060 GGC TCGA-2J-AABV-01A-12D-A40W-08 HN1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000335692.1 0 0 0 11 469 0 98 0 9.465419e-01 1 215 0 98 2 0 0 0 0 0 2 1 0.998311 11 466 0 98 2 -2.681738 1 1 0 0 1 0 1 1 1.994252 0 0.110000 2.010000 0.104087 0.420000 0.220000 0.690000 0.410000 0.441610 0.420000 0 3.100000e-01 5.600000e-01 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr17:7577094G>A ENST00000269305.4 - 8 1033 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TCTGTGCGCCGGTCTCTCCCA 0.557000 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 463 Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1) GRCh37 CM056413|CM920678 TP53 M rs28934574 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . G 20.800000 4.057525 0.760740 0.0 2.33E-4 ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99869 -7.34;-7.34;-7.34;-7.34;-7.34;-7.34 4.750000 1.490000 0.228780 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99825 0.9922 M 0.89968 3.075 0.584320 A 0.999999 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.999;0.998;1.0;0.999 D 0.97713 1.0192 9 0.87932 D 0 -12.0909 8.750800 0.346130 0.0:0.1376:0.5833:0.2792 rs28934574 282;282;282;282 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. W 282;282;282;282;282;271;150 ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W ENSP00000269305:R282W R - 1 2 TP53 7517819 1 0.714170 0.327000 0.254020 0.901000 0.528970 4.477000 0.602230 0.174000 0.198090 0.462000 0.415740 CGG TCGA-2J-AABV-01A-12D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 8 169 0 53 1 4.788668e-02 3 4 0 53 2 1 1 52 1270 0 618 2 1 0.988879 8 165 0 52 2 -2.994159 1 1 121412 2 36 1 0 1 1 1.976493 0 0.110000 2.010000 0.098095 0.810000 0.390000 1.000000 1.000000 0.799086 0.810000 0 5.700000e-01 1 TYK2 7297 broad.mit.edu 37 19 10463185 10463185 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr19:10463185C>T ENST00000525621.1 - 23 3724 c.3243G>A c.(3241-3243)gcG>gcA p.A1081A TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000524462.1_Silent_p.A896A NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AGACATCTGACGCATAGTAGA 0.637000 0 SO:0001819 synonymous_variant ENST00000525621.1 1 1 hg19 CCDS12236.1 TCGA-2J-AABV-01A-12D-A40W-08 TYK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389443.1 0 0 0 15 442 0 127 0 1.924777e-01 1 22 0 127 2 0 0 0 0 0 2 1 0.999846 15 429 0 126 2 -13.884140 1 1 0 0 1 1 2 3 2.012788 0 0.110000 2.010000 0.118244 0.640000 0.360000 1.000000 0.600000 0.677337 0.640000 0 4.800000e-01 9.400000e-01 HRC 3270 broad.mit.edu 37 19 49657755 49657755 + Missense_Mutation SNP T T C TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr19:49657755T>C ENST00000252825.4 - 1 926 c.740A>G c.(739-741)gAc>gGc p.D247G HRC_ENST00000595625.1_Missense_Mutation_p.D247G NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) atcatcatcgtcatcttcttc 0.507000 Melanoma(37;75 1097 24567 25669 30645) 0 SO:0001583 missense ENST00000252825.4 0 1 hg19 CCDS12759.1 . . . . . . . . . . t 7.560000 0.664495 0.147100 . . ENSG00000130528 ENST00000252825;ENST00000434964 T 0.09350 2.99 3.170000 2.140000 0.274770 . . . . . T 0.06735 0.0172 N 0.24115 0.695 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.43245 -0.9403 9 0.21014 T 0.42 . 6.769500 0.235870 0.0:0.1232:0.0:0.8768 . 247 P23327 SRCH_HUMAN G 247;217 ENSP00000252825:D247G ENSP00000252825:D247G D - 2 0 HRC 54349567 0 0.058580 0.003000 0.115790 0.059000 0.157070 -0.119000 0.106760 0.258000 0.216860 -0.758000 0.034660 GAC TCGA-2J-AABV-01A-12D-A40W-08 HRC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465649.1 0 0 0 4 131 0 54 0 0 0 0 54 2 0 0 0 0 0 2 1 0.874525 3 123 0 52 2 -7.013622 1 0 0 0 1 0 1 1 1.989875 0 0.110000 2.010000 0.102596 0.570000 0.190000 1.000000 1.000000 0.600131 0.570000 0 3.500000e-01 8.600000e-01 LRRC4B 94030 broad.mit.edu 37 19 51021882 51021882 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr19:51021882G>A ENST00000599957.1 - 3 1285 c.1088C>T c.(1087-1089)gCg>gTg p.A363V LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 30 all_neural(266;0.131) GATGACGGGCGCATAGCAGGT 0.667000 0 SO:0001583 missense ENST00000599957.1 0 1 hg19 CCDS42595.1 . . . . . . . . . . G 16.420000 3.119090 0.565050 . . ENSG00000131409 ENST00000389201;ENST00000535879 T 0.33216 1.42 3.900000 3.900000 0.450410 Immunoglobulin-like fold (1); 0.000000 0.85682 U 0.000000 T 0.17280 0.0415 L 0.38953 1.18 0.547530 D 0.999983 P 0.48162 0.906 B 0.19946 0.027 T 0.12268 -1.0554 10 0.39692 T 0.17 . 13.791100 0.631400 0.0:0.0:1.0:0.0 . 363 Q9NT99 LRC4B_HUMAN V 363 ENSP00000373853:A363V ENSP00000373853:A363V A - 2 0 LRRC4B 55713694 1 0.714170 0.990000 0.471750 0.943000 0.588930 9.648000 0.984830 2.192000 0.701110 0.561000 0.740990 GCG TCGA-2J-AABV-01A-12D-A40W-08 LRRC4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464907.1 0 0 0 4 194 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 0.883855 4 188 0 48 2 -3.172525 1 1 0 0 1 0 1 1 1.989875 0 0.110000 2.010000 0.102596 0.390000 0.130000 0.830000 0.360000 0.430056 0.390000 0 2.400000e-01 6.100000e-01 ZNRF4 148066 broad.mit.edu 37 19 5456659 5456659 + Missense_Mutation SNP T T C TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr19:5456659T>C ENST00000222033.4 + 1 1234 c.1157T>C c.(1156-1158)aTt>aCt p.I386T NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 16 ATCTGGGCCATTCAAGTCCAG 0.662000 0 SO:0001583 missense ENST00000222033.4 1 1 hg19 CCDS42475.1 . . . . . . . . . . T 2.697000 -0.271774 0.057160 . . ENSG00000105428 ENST00000222033 T 0.04706 3.57 3.470000 1.020000 0.199860 . 0.686881 0.13351 U 0.394422 T 0.03095 0.0091 L 0.29908 0.895 0.093100 N 1.000000 B 0.26002 0.139 B 0.14578 0.011 T 0.44159 -0.9346 10 0.27785 T 0.31 -11.1573 3.598400 0.080140 0.2261:0.0:0.2332:0.5407 . 386 Q8WWF5 ZNRF4_HUMAN T 386 ENSP00000222033:I386T ENSP00000222033:I386T I + 2 0 ZNRF4 5407659 6.970000e-01 0.277670 0.686000 0.300860 0.005000 0.049000 1.600000 0.367620 0.473000 0.273680 -0.516000 0.044260 ATT TCGA-2J-AABV-01A-12D-A40W-08 ZNRF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450924.1 0 0 0 10 333 0 71 0 0 0 0 71 2 0 0 0 0 0 2 1 0.996554 11 323 0 71 2 -10.884310 1 1 120902 1 30 1 1 2 3 2.012788 0 0.110000 2.010000 0.118244 0.580000 0.280000 1.000000 0.520000 0.627998 0.580000 0 4.100000e-01 9.200000e-01 OR7G3 390883 broad.mit.edu 37 19 9236903 9236903 + Missense_Mutation SNP C C A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr19:9236903C>A ENST00000305444.2 - 1 723 c.724G>T c.(724-726)Ggg>Tgg p.G242W NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 15 AAATGTGACCCGCAGATGGAA 0.448000 0 SO:0001583 missense ENST00000305444.2 0 1 hg19 CCDS32899.1 . . . . . . . . . . C 14.510000 2.555942 0.454870 . . ENSG00000170920 ENST00000305444 T 0.37915 1.17 3.960000 3.960000 0.458800 GPCR, rhodopsin-like superfamily (1); 0.178246 0.26369 U 0.024780 T 0.67468 0.2896 H 0.97587 4.035 0.214990 N 0.999668 D 0.63046 0.992 D 0.70935 0.971 T 0.64373 -0.6423 10 0.87932 D 0 . 5.923600 0.190960 0.0:0.6979:0.1968:0.1053 . 242 Q8NG95 OR7G3_HUMAN W 242 ENSP00000302867:G242W ENSP00000302867:G242W G - 1 0 OR7G3 9097903 0 0.058580 0.690000 0.301480 0.116000 0.199420 -0.903000 0.040840 2.251000 0.743430 0.551000 0.689100 GGG TCGA-2J-AABV-01A-12D-A40W-08 OR7G3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384611.1 0 0 0 5 580 0 167 0 0 0 0 167 2 0 0 0 0 0 2 1 0.935500 5 573 0 165 2 -2.042200 0 1 0 0 1 1 2 3 2.012788 0 0.110000 2.010000 0.118244 0.180000 0.060000 1.000000 0.150000 0.293166 0.180000 0 1.100000e-01 3.500000e-01 KCNC4 3749 broad.mit.edu 37 1 110768613 110768613 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr1:110768613C>T ENST00000369787.3 + 3 1659 c.1632C>T c.(1630-1632)ggC>ggT p.G544G KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.G544G NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) AGCAGAATGGCGATGCCAACG 0.652000 0 SO:0001819 synonymous_variant ENST00000369787.3 0 1 hg19 CCDS821.1 TCGA-2J-AABV-01A-12D-A40W-08 KCNC4-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000052146.2 0 0 0 5 322 0 70 0 7.451806e-03 0 7 0 70 2 0 0 0 0 0 2 1 0.935456 5 317 0 70 2 -2.981588 1 1 121378 5 39 1 0 1 1 1.990172 0 0.110000 2.010000 0.103094 0.290000 0.110000 0.590000 0.270000 0.320294 0.290000 0 1.800000e-01 4.400000e-01 OBSCN 84033 broad.mit.edu 37 1 228400270 228400270 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr1:228400270C>T ENST00000422127.1 + 2 830 c.786C>T c.(784-786)acC>acT p.T262T OBSCN_ENST00000284548.11_Silent_p.T262T|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Silent_p.T262T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001098623.2 NP_001092093.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 223 Prostate(94;0.0405) GCTACGTGACCGGCGAGCCCA 0.711000 0 SO:0001819 synonymous_variant ENST00000422127.1 0 1 hg19 CCDS58065.1 TCGA-2J-AABV-01A-12D-A40W-08 OBSCN-204 KNOWN basic|CCDS protein_coding protein_coding 0 0 0 6 336 0 79 0 0 0 0 79 2 0 0 0 0 0 2 1 0.960554 7 321 0 77 2 -3.135327 1 1 0 0 1 1 2 3 2.030060 0 0.110000 2.010000 0.122072 0.380000 0.140000 1.000000 0.310000 0.480689 0.380000 0 2.400000e-01 1 RYR2 6262 broad.mit.edu 37 1 237632393 237632393 + Splice_Site SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr1:237632393G>A ENST00000366574.2 + 17 1931 c.1614G>A c.(1612-1614)gcG>gcA p.A538A MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Splice_Site_p.A522A|RYR2_ENST00000360064.6_Splice_Site_p.A536A 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) CTTTTGCAGCGGCTCTAATTA 0.378000 0 SO:0001630 splice_region_variant ENST00000366574.2 0 1 hg19 CCDS55691.1 TCGA-2J-AABV-01A-12D-A40W-08 RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095402.2 0 0 0 8 254 0 51 0 0 0 0 51 2 0 0 0 0 0 2 1 0.989176 8 251 0 51 2 -3.437875 1 1 120782 1 28 1 1 2 3 2.030060 0 0.110000 2.010000 0.122072 0.640000 0.280000 1.000000 1.000000 0.677169 0.640000 0 4.300000e-01 1 ZHX3 23051 broad.mit.edu 37 20 39833205 39833205 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr20:39833205C>T ENST00000309060.3 - 4 767 c.352G>A c.(352-354)Gca>Aca p.A118T ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 31 Myeloproliferative disorder(115;0.00425) GGGGTTTTTGCCAGAAAACTG 0.493000 0 SO:0001583 missense ENST00000309060.3 0 1 hg19 CCDS13315.1 . . . . . . . . . . C 10.390000 1.335660 0.242530 . . ENSG00000174306 ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740 T;T;T;T;T 0.26373 1.74;3.17;3.17;2.97;1.74 6.070000 6.070000 0.986850 Zinc finger, C2H2-like (1); 0.159420 0.56097 D 0.000037 T 0.22166 0.0534 N 0.20530 0.585 0.383710 D 0.944878 B;B;B;P 0.47545 0.044;0.044;0.296;0.897 B;B;B;P 0.46585 0.047;0.047;0.079;0.521 T 0.01720 -1.1288 10 0.05351 T 0.99 -15.9229 20.643900 0.995700 0.0:1.0:0.0:0.0 . 118;118;118;118 A8K8Q0;Q9H4I2;F5H820;F6R4Q5 .;ZHX3_HUMAN;.;. T 118 ENSP00000312222:A118T;ENSP00000362360:A118T;ENSP00000442290:A118T;ENSP00000443783:A118T;ENSP00000415498:A118T ENSP00000312222:A118T A - 1 0 ZHX3 39266619 1 0.714170 1.000000 0.803570 0.996000 0.888480 3.238000 0.513520 2.884000 0.989040 0.655000 0.942530 GCA TCGA-2J-AABV-01A-12D-A40W-08 ZHX3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079262.3 0 0 0 5 471 0 139 0 0 0 0 139 2 0 0 0 0 0 2 1 0.935032 5 463 0 136 2 -2.253786 0 1 0 0 1 1 2 3 2.014021 0 0.110000 2.010000 0.118244 0.220000 0.080000 1.000000 0.190000 0.329220 0.220000 0 1.300000e-01 4.200000e-01 TRAPPC10 7109 broad.mit.edu 37 21 45503147 45503147 + Silent SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr21:45503147G>A ENST00000291574.4 + 14 2377 c.2202G>A c.(2200-2202)ctG>ctA p.L734L NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 41 ACGTGACCCTGGAACCAGGGG 0.572000 0 SO:0001819 synonymous_variant ENST00000291574.4 0 1 hg19 CCDS13704.1 TCGA-2J-AABV-01A-12D-A40W-08 TRAPPC10-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000195737.1 0 0 0 6 660 0 197 0 0 0 1 0 197 2 0 0 0 0 0 2 1 0.964097 6 655 0 196 2 -2.442790 0 1 0 0 1 0 1 1 1.995223 0 0.110000 2.010000 0.104087 0.170000 0.060000 0.330000 0.160000 0.186825 0.170000 0 1.100000e-01 2.500000e-01 SCN1A 6323 broad.mit.edu 37 2 166866301 166866301 + Silent SNP T T A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr2:166866301T>A ENST00000303395.4 - 20 3929 c.3930A>T c.(3928-3930)ggA>ggT p.G1310G AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000409050.1_Silent_p.G1282G|SCN1A_ENST00000423058.2_Silent_p.G1310G 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) ATTTGATGGCTCCAAGTTCTG 0.378000 0 SO:0001819 synonymous_variant ENST00000303395.4 0 1 hg19 CCDS54413.1 TCGA-2J-AABV-01A-12D-A40W-08 SCN1A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102661.1 0 0 0 5 388 0 141 0 0 0 0 141 2 0 0 0 0 0 2 1 0.936658 5 385 0 140 2 -3.082090 1 1 0 0 1 1 2 3 2.019003 0 0.110000 2.010000 0.119204 0.270000 0.090000 1.000000 0.220000 0.379445 0.270000 0 1.600000e-01 5.600000e-01 LRP2 4036 broad.mit.edu 37 2 170044544 170044544 + Silent SNP G G A rs143637076 TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr2:170044544G>A ENST00000263816.3 - 49 9549 c.9264C>T c.(9262-9264)atC>atT p.I3088I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 p.I3088I(1) 315 """Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)" TCATCATCTCGATGCAGCGCC 0.512000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000263816.3 1 1 hg19 CCDS2232.1 TCGA-2J-AABV-01A-12D-A40W-08 LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 0 0 0 12 398 0 134 0 0 0 0 134 2 0 0 0 0 0 2 1 0.999064 12 392 0 132 2 -3.025492 1 1 121412 2 39 1 1 2 3 2.019003 0 0.110000 2.010000 0.119204 0.580000 0.300000 1.000000 0.540000 0.631359 0.580000 0 4.200000e-01 9.400000e-01 COL5A2 1290 broad.mit.edu 37 2 189945762 189945762 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr2:189945762C>T ENST00000374866.3 - 13 1134 c.860G>A c.(859-861)cGt>cAt p.R287H NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGGAAATCCACGAGCTCCCTG 0.413000 0 SO:0001583 missense ENST00000374866.3 0 1 hg19 CCDS33350.1 . . . . . . . . . . C 21.900000 4.216368 0.793520 . . ENSG00000204262 ENST00000374866;ENST00000452536 D 0.94232 -3.38 5.260000 5.260000 0.737470 . 0.000000 0.42964 D 0.000627 D 0.96137 0.8741 M 0.77820 2.39 0.512330 D 0.999915 D;D 0.71674 0.998;0.995 D;D 0.71184 0.964;0.972 D 0.95592 0.8655 9 . . . . 14.230600 0.658900 0.0:1.0:0.0:0.0 . 104;287 Q5PR22;P05997 .;CO5A2_HUMAN H 287;104 ENSP00000364000:R287H . R - 2 0 COL5A2 189654007 1 0.714170 1.000000 0.803570 0.722000 0.414350 5.417000 0.664230 2.732000 0.935760 0.555000 0.697020 CGT TCGA-2J-AABV-01A-12D-A40W-08 COL5A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313523.1 0 0 0 7 285 0 78 0 0 0 1 0 78 2 0 0 0 0 0 2 1 0.979728 7 280 0 77 2 -3.502977 1 1 0 0 1 1 2 3 2.019003 0 0.110000 2.010000 0.119204 0.500000 0.210000 1.000000 0.440000 0.561364 0.500000 0 3.300000e-01 9.100000e-01 ALS2 57679 broad.mit.edu 37 2 202606452 202606452 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr2:202606452C>T ENST00000264276.6 - 11 2668 c.2296G>A c.(2296-2298)Gcc>Acc p.A766T ALS2_ENST00000457679.2_Missense_Mutation_p.A78T NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 72 AAACTCCTGGCTTCCTTTACC 0.488000 0 SO:0001583 missense ENST00000264276.6 1 1 hg19 CCDS42800.1 . . . . . . . . . . C 19.090000 3.760467 0.697630 . . ENSG00000003393 ENST00000264276;ENST00000457679 T;T 0.63255 -0.03;-0.03 5.970000 5.090000 0.689990 Dbl homology (DH) domain (4); 0.178064 0.49305 D 0.000148 T 0.69557 0.3124 L 0.27053 0.805 0.414890 D 0.988215 D;D;B 0.89917 1.0;0.97;0.146 D;P;B 0.87578 0.998;0.801;0.326 T 0.73316 -0.4021 10 0.54805 T 0.06 . 16.604700 0.848250 0.1313:0.8687:0.0:0.0 . 766;766;766 Q96Q42-3;Q6IQ41;Q96Q42 .;.;ALS2_HUMAN T 766;78 ENSP00000264276:A766T;ENSP00000394823:A78T ENSP00000264276:A766T A - 1 0 ALS2 202314697 1 0.714170 1.000000 0.803570 0.945000 0.592860 3.060000 0.499550 1.515000 0.488850 -0.182000 0.129630 GCC TCGA-2J-AABV-01A-12D-A40W-08 ALS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335562.3 1 0 0 8 200 0 58 0 0 0 0 58 2 0 0 0 0 0 2 1 0.989579 8 199 0 58 2 -10.023990 1 1 120876 1 33 1 1 2 3 2.019003 0 0.110000 2.010000 0.119204 0.780000 0.350000 1.000000 1.000000 0.771723 0.780000 0 5.300000e-01 1 CYP26B1 56603 broad.mit.edu 37 2 72359477 72359477 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr2:72359477C>T ENST00000001146.2 - 6 1621 c.1418G>A c.(1417-1419)cGc>cAc p.R473H CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 28 CAAGGTGATGCGGGGGAAGGT 0.647000 0 SO:0001583 missense ENST00000001146.2 0 1 hg19 CCDS1919.1 . . . . . . . . . . C 24.200000 4.506780 0.852820 . . ENSG00000003137 ENST00000001146;ENST00000412253;ENST00000546307 T;T;T 0.69306 -0.39;-0.39;-0.39 5.640000 5.640000 0.866020 . 0.112172 0.56097 D 0.000031 T 0.65842 0.2730 L 0.38175 1.15 0.463560 D 0.999003 P;P;P 0.51449 0.907;0.945;0.792 P;P;P 0.53954 0.631;0.738;0.631 T 0.66089 -0.6010 10 0.52906 T 0.07 -4.0647 9.126300 0.368160 0.0:0.8455:0.0:0.1545 . 398;456;473 B7Z2K6;B7Z2P4;Q9NR63 .;.;CP26B_HUMAN H 473;282;398 ENSP00000001146:R473H;ENSP00000401465:R282H;ENSP00000443304:R398H ENSP00000001146:R473H R - 2 0 CYP26B1 72212985 1 0.714170 1.000000 0.803570 0.999000 0.989320 2.746000 0.474670 2.837000 0.977910 0.655000 0.942530 CGC TCGA-2J-AABV-01A-12D-A40W-08 CYP26B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251969.1 1 0 1 6 62 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 0.964076 6 60 0 19 2 -11.072270 1 1 121360 3 30 1 1 2 3 2.019003 0 0.110000 2.010000 0.119204 0.990000 0.690000 1.000000 1.000000 0.977793 0.990000 1 9.900000e-01 1 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 PLXND1/TMCC1(4) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 0 SO:0001583 missense ENST00000393238.3 0 1 hg19 CCDS33855.1 . . . . . . . . . . T 20.600000 4.009576 0.750460 . . ENSG00000172765 ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333 T;T;T;T 0.50001 0.76;0.76;0.76;0.76 5.160000 5.160000 0.708800 . 0.000000 0.85682 D 0.000000 T 0.61261 0.2333 L 0.46614 1.455 0.807220 D 1.000000 D;D 0.67145 0.996;0.985 D;D 0.85130 0.997;0.973 T 0.58278 -0.7664 10 0.33940 T 0.23 -18.4911 15.150900 0.726960 0.0:0.0:0.0:1.0 . 386;565 B4DE04;O94876 .;TMCC1_HUMAN L 241;565;451;386 ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L ENSP00000327349:Q386L Q - 2 0 TMCC1 130853282 1 0.714170 1.000000 0.803570 0.993000 0.825480 7.735000 0.849390 2.172000 0.686780 0.533000 0.621200 CAG TCGA-2J-AABV-01A-12D-A40W-08 TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356418.2 0 0 0 5 357 0 103 0 9.345472e-04 0 3 0 103 2 0 0 0 0 0 2 1 0.941025 5 364 0 106 2 -2.087114 0 1 0 0 1 0 0 0 1.980772 0 0.110000 2.010000 0.097088 0.260000 0.100000 0.530000 0.240000 0.287845 0.260000 0 1.600000e-01 4.000000e-01 C3orf58 205428 broad.mit.edu 37 3 143704424 143704424 + Missense_Mutation SNP C C G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr3:143704424C>G ENST00000315691.3 + 2 1232 c.697C>G c.(697-699)Ctt>Gtt p.L233V C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V NM_173552.3 NP_775823.1 Q8NDZ4 DIA1_HUMAN chromosome 3 open reading frame 58 21 TGCAAAGTATCTTGGAGCTTG 0.393000 0 SO:0001583 missense ENST00000315691.3 1 1 hg19 CCDS3130.1 . . . . . . . . . . C 14.570000 2.573485 0.459020 . . ENSG00000181744 ENST00000315691;ENST00000495414;ENST00000492452 T 0.36878 1.23 5.240000 4.370000 0.524810 . 0.000000 0.64402 D 0.000001 T 0.46698 0.1406 M 0.73217 2.22 0.807220 D 1.000000 P;D 0.56287 0.915;0.975 P;P 0.52957 0.596;0.714 T 0.45731 -0.9241 10 0.51188 T 0.08 . 8.733100 0.345120 0.0:0.7811:0.0:0.2189 . 24;233 B7Z1W3;Q8NDZ4 .;CC058_HUMAN V 233;24;39 ENSP00000320081:L233V ENSP00000320081:L233V L + 1 0 C3orf58 145187114 1 0.714170 1.000000 0.803570 0.964000 0.639670 3.837000 0.558200 1.228000 0.436140 -0.136000 0.146810 CTT TCGA-2J-AABV-01A-12D-A40W-08 C3orf58-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355038.1 0 0 0 13 596 0 206 0 0 0 0 206 2 0 0 0 0 0 2 1 0.999490 13 587 0 205 2 -2.616717 1 1 0 0 1 0 0 0 1.980772 0 0.110000 2.010000 0.097088 0.380000 0.210000 0.620000 0.370000 0.404387 0.380000 0 2.900000e-01 5.100000e-01 PPM1L 151742 broad.mit.edu 37 3 160783197 160783197 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr3:160783197C>T ENST00000498165.1 + 3 682 c.581C>T c.(580-582)aCg>aTg p.T194M PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M|PPM1L_ENST00000480117.1_3'UTR NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L p.T194K(1)|p.T15K(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCAGGCACAACGTGTTTGATT 0.478000 Pancreas(86;250 1994 13715 43211) 2 Substitution - Missense(2) SO:0001583 missense ENST00000498165.1 0 1 hg19 CCDS33886.1 . . . . . . . . . . C 21.400000 4.144990 0.778880 . . ENSG00000163590 ENST00000498165;ENST00000464260;ENST00000295839 T;T;T 0.30981 1.51;1.51;1.51 5.120000 5.120000 0.697940 Protein phosphatase 2C-like (5); 0.000000 0.85682 D 0.000000 T 0.73377 0.3579 H 0.99011 4.4 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.84979 0.0887 10 0.87932 D 0 . 17.723800 0.883590 0.0:1.0:0.0:0.0 . 67;194 Q5SGD2-3;Q5SGD2 .;PPM1L_HUMAN M 194;15;67 ENSP00000417659:T194M;ENSP00000420746:T15M;ENSP00000295839:T67M ENSP00000295839:T67M T + 2 0 PPM1L 162265891 1 0.714170 0.986000 0.454190 0.575000 0.360950 7.298000 0.788150 2.681000 0.913290 0.561000 0.740990 ACG TCGA-2J-AABV-01A-12D-A40W-08 PPM1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353019.1 0 0 0 9 415 0 151 0 0 0 0 151 2 0 0 0 0 0 2 1 0.993880 9 408 0 151 2 -3.103370 1 1 0 0 1 0 0 0 1.980772 0 0.110000 2.010000 0.097088 0.390000 0.190000 0.670000 0.370000 0.411480 0.390000 0 2.700000e-01 5.300000e-01 STAB1 23166 broad.mit.edu 37 3 52544021 52544021 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr3:52544021C>T ENST00000321725.6 + 23 2559 c.2483C>T c.(2482-2484)gCc>gTc p.A828V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 76 ACAGGGCTGGCCCAGCACTGC 0.662000 0 SO:0001583 missense ENST00000321725.6 0 1 hg19 CCDS33768.1 . . . . . . . . . . C 7.895000 0.733050 0.155070 . . ENSG00000010327 ENST00000321725 T 0.03124 4.04 4.700000 4.700000 0.593000 Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.456341 0.21799 N 0.068955 T 0.03520 0.0101 L 0.38838 1.175 0.319540 N 0.609253 P 0.46142 0.873 B 0.35931 0.214 T 0.39418 -0.9615 10 0.11182 T 0.66 . 17.436900 0.875550 0.0:1.0:0.0:0.0 . 828 Q9NY15 STAB1_HUMAN V 828 ENSP00000312946:A828V ENSP00000312946:A828V A + 2 0 STAB1 52519061 5.180000e-01 0.262340 0.857000 0.337130 0.553000 0.353970 3.120000 0.504300 2.447000 0.827920 0.655000 0.942530 GCC TCGA-2J-AABV-01A-12D-A40W-08 STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351380.2 0 0 0 5 369 0 94 0 0 0 0 94 2 0 0 0 0 0 2 1 0.936165 5 365 0 93 2 -2.631695 1 1 0 0 1 0 0 0 1.980772 0 0.110000 2.010000 0.097088 0.250000 0.090000 0.510000 0.230000 0.278893 0.250000 0 1.600000e-01 3.800000e-01 ANKRD50 57182 broad.mit.edu 37 4 125599973 125599973 + Silent SNP A A T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr4:125599973A>T ENST00000504087.1 - 3 1637 c.600T>A c.(598-600)atT>atA p.I200I ANKRD50_ENST00000515641.1_Silent_p.I21I NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 55 CACCTTCAGTAATGTTACACC 0.453000 0 SO:0001819 synonymous_variant ENST00000504087.1 1 1 hg19 CCDS34060.1 TCGA-2J-AABV-01A-12D-A40W-08 ANKRD50-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364775.1 0 0 0 18 589 0 213 0 0 0 0 213 2 0 0 0 0 0 2 1 0.999981 18 585 0 209 2 -15.643040 1 1 0 0 1 1 2 3 2.006263 0 0.110000 2.010000 0.116801 0.570000 0.340000 1.000000 0.530000 0.613018 0.570000 0 4.400000e-01 7.800000e-01 DCAF4L1 285429 broad.mit.edu 37 4 41984668 41984668 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr4:41984668G>A ENST00000333141.5 + 1 956 c.859G>A c.(859-861)Gca>Aca p.A287T NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 37 ATGCCTGATGGCATCAGACAT 0.532000 0 SO:0001583 missense ENST00000333141.5 0 1 hg19 CCDS33978.1 . . . . . . . . . . G 13.660000 2.303230 0.407950 . . ENSG00000182308 ENST00000333141 T 0.67171 -0.25 0.970000 0.970000 0.196920 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.100771 0.64402 D 0.000002 T 0.59770 0.2218 M 0.63843 1.955 0.360940 D 0.843670 P 0.49961 0.93 B 0.43575 0.424 T 0.66015 -0.6028 10 0.46703 T 0.11 . 7.746900 0.288750 1.0E-4:0.0:0.9999:0.0 . 287 Q3SXM0 DC4L1_HUMAN T 287 ENSP00000327796:A287T ENSP00000327796:A287T A + 1 0 DCAF4L1 41679425 1 0.714170 0.144000 0.223140 0.696000 0.403690 4.160000 0.581640 0.821000 0.345400 0.313000 0.208870 GCA TCGA-2J-AABV-01A-12D-A40W-08 DCAF4L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360958.1 0 0 0 6 485 0 128 0 0 0 0 128 2 0 0 0 0 0 2 1 0.964052 6 480 0 127 2 -3.019343 1 1 0 0 1 1 2 3 2.006263 0 0.110000 2.010000 0.116801 0.250000 0.100000 1.000000 0.220000 0.339165 0.250000 0 1.600000e-01 4.300000e-01 ACOX3 8310 broad.mit.edu 37 4 8368698 8368698 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr4:8368698G>A ENST00000356406.5 - 18 2170 c.2093C>T c.(2092-2094)tCg>tTg p.S698L ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000413009.2_3'UTR NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 42 CTAGAGCTTCGATTTCAGACT 0.517000 0 SO:0001583 missense ENST00000356406.5 0 1 hg19 CCDS3401.1 . . . . . . . . . . G 18.320000 3.598931 0.663320 . . ENSG00000087008 ENST00000356406;ENST00000503233 D;D 0.93247 -3.19;-3.19 5.160000 5.160000 0.708800 . 0.535944 0.17481 N 0.172735 D 0.92984 0.7767 M 0.76574 2.34 0.240150 N 0.996166 D 0.61697 0.99 B 0.42188 0.379 D 0.88987 0.3412 10 0.87932 D 0 1.4088 16.152900 0.816340 0.0:0.0:1.0:0.0 . 698 O15254 ACOX3_HUMAN L 698 ENSP00000348775:S698L;ENSP00000421625:S698L ENSP00000348775:S698L S - 2 0 ACOX3 8419598 9.480000e-01 0.322510 0.037000 0.182300 0.026000 0.113680 7.092000 0.769300 2.411000 0.818740 0.655000 0.942530 TCG TCGA-2J-AABV-01A-12D-A40W-08 ACOX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206997.4 0 0 0 8 416 1 132 1 4.989540e-02 4 33 1 132 3 0 0 0 0 0 2 0 0.181238 9 411 1 131 13 -2.794449 1 1 121412 9 43 1 1 2 3 2.006263 0 0.110000 2.010000 0.116801 0.380000 0.170000 1.000000 0.340000 0.449359 0.380000 0 2.600000e-01 6.000000e-01 GRID2 2895 broad.mit.edu 37 4 93511323 93511323 + Missense_Mutation SNP T T C TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr4:93511323T>C ENST00000282020.4 + 2 388 c.130T>C c.(130-132)Ttt>Ctt p.F44L GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) TGATGAGGTATTTCGCACTGC 0.383000 0 SO:0001583 missense ENST00000282020.4 0 1 hg19 CCDS3637.1 . . . . . . . . . . T 22.000000 4.232293 0.796880 . . ENSG00000152208 ENST00000282020;ENST00000510992 D;D 0.85411 -1.7;-1.98 5.830000 5.830000 0.931110 Extracellular ligand-binding receptor (1); 0.370342 0.23413 N 0.048445 D 0.88683 0.6503 L 0.34521 1.04 0.375050 D 0.916902 P;D 0.57257 0.924;0.979 P;D 0.74023 0.878;0.982 D 0.91209 0.4997 10 0.87932 D 0 . 16.194000 0.820110 0.0:0.0:0.0:1.0 . 44;44 E9PH24;O43424 .;GRID2_HUMAN L 44 ENSP00000282020:F44L;ENSP00000421257:F44L ENSP00000282020:F44L F + 1 0 GRID2 93730346 1 0.714170 1.000000 0.803570 0.988000 0.763860 8.040000 0.891880 2.225000 0.725220 0.460000 0.390300 TTT TCGA-2J-AABV-01A-12D-A40W-08 GRID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253588.2 0 0 0 6 420 0 136 0 0 0 0 136 2 0 0 0 0 0 2 1 0.964194 6 416 0 136 2 -3.329976 1 1 0 0 1 1 2 3 2.006263 0 0.110000 2.010000 0.116801 0.290000 0.110000 1.000000 0.250000 0.373102 0.290000 0 1.800000e-01 4.900000e-01 PDHA2 5161 broad.mit.edu 37 4 96762083 96762083 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr4:96762083G>A ENST00000295266.4 + 1 845 c.782G>A c.(781-783)cGt>cAt p.R261H NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 46 Hepatocellular(203;0.114) CTGTGTGTTCGTGAGGCAACA 0.473000 0 SO:0001583 missense ENST00000295266.4 0 1 hg19 CCDS3644.1 . . . . . . . . . . G 18.490000 3.635923 0.671300 . . ENSG00000163114 ENST00000295266 D 0.95885 -3.84 4.910000 4.060000 0.473250 Dehydrogenase, E1 component (1); 0.000000 0.85682 D 0.000000 D 0.96346 0.8808 L 0.53561 1.675 0.530050 D 0.999965 D 0.89917 1.0 D 0.91635 0.999 D 0.95644 0.8701 10 0.87932 D 0 -18.3149 11.073400 0.480160 0.0921:0.0:0.9079:0.0 . 261 P29803 ODPAT_HUMAN H 261 ENSP00000295266:R261H ENSP00000295266:R261H R + 2 0 PDHA2 96981106 8.480000e-01 0.296230 0.782000 0.318040 0.637000 0.381720 4.724000 0.619720 2.733000 0.936350 0.467000 0.429560 CGT TCGA-2J-AABV-01A-12D-A40W-08 PDHA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253608.1 0 0 0 5 237 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 0.937506 6 235 0 86 2 -6.117036 1 1 121412 1 30 1 1 2 3 2.006263 0 0.110000 2.010000 0.116801 0.430000 0.160000 1.000000 0.360000 0.498924 0.430000 0 2.700000e-01 7.500000e-01 PCDHA1 56147 broad.mit.edu 37 5 140167494 140167494 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr5:140167494C>T ENST00000504120.2 + 1 1619 c.1619C>T c.(1618-1620)gCg>gTg p.A540V PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGATGCGGGCGTGCCG 0.682000 0 SO:0001583 missense ENST00000504120.2 1 1 hg19 CCDS54913.1 . . . . . . . . . . c 18.400000 3.615636 0.666720 . . ENSG00000204970 ENST00000504120;ENST00000378133 T;T 0.53857 0.6;0.6 3.490000 3.490000 0.399570 Cadherin (4);Cadherin-like (1); 0.404731 0.17581 U 0.169114 T 0.62575 0.2439 L 0.53617 1.68 0.310410 N 0.716350 D;D 0.67145 0.995;0.996 P;P 0.56343 0.783;0.796 T 0.68697 -0.5340 10 0.87932 D 0 . 15.405400 0.748740 0.0:1.0:0.0:0.0 . 540;540 Q9Y5I3;Q9Y5I3-3 PCDA1_HUMAN;. V 540 ENSP00000420840:A540V;ENSP00000367373:A540V ENSP00000367373:A540V A + 2 0 PCDHA1 140147678 4.620000e-01 0.257910 0.953000 0.391690 0.396000 0.306290 0.881000 0.281730 1.676000 0.509300 0.549000 0.686330 GCG TCGA-2J-AABV-01A-12D-A40W-08 PCDHA1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000389127.1 1 0 0 23 518 0 171 0 0 0 0 171 2 0 0 0 0 0 2 1 0.999999 23 512 0 176 2 -3.673474 1 1 0 0 1 1 2 3 2.000113 0 0.110000 2.010000 0.115352 0.800000 0.510000 1.000000 1.000000 0.806241 0.800000 0 6.400000e-01 1 ADAMTS2 9509 broad.mit.edu 37 5 178562924 178562924 + Missense_Mutation SNP G G A TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr5:178562924G>A ENST00000251582.7 - 13 2172 c.2071C>T c.(2071-2073)Cgc>Tgc p.R691C NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTCCCCGCGCACACAGAGG 0.637000 0 SO:0001583 missense ENST00000251582.7 0 1 hg19 CCDS4444.1 . . . . . . . . . . G 19.280000 3.797583 0.705670 . . ENSG00000087116 ENST00000251582 T 0.69175 -0.38 5.370000 5.370000 0.771650 . 0.000000 0.56097 D 0.000034 D 0.83440 0.5255 M 0.88704 2.975 0.807220 D 1.000000 D 0.89917 1.0 D 0.68192 0.956 D 0.86425 0.1757 10 0.72032 D 0.01 . 14.603800 0.684630 0.0:0.0:0.8538:0.1462 . 691 O95450 ATS2_HUMAN C 691 ENSP00000251582:R691C ENSP00000251582:R691C R - 1 0 ADAMTS2 178495530 1 0.714170 0.999000 0.593770 0.548000 0.352410 5.446000 0.666000 2.521000 0.849970 0.462000 0.415740 CGC TCGA-2J-AABV-01A-12D-A40W-08 ADAMTS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253507.1 0 0 0 7 244 0 71 0 1.120413e-03 0 2 0 71 2 0 0 0 0 0 2 1 0.980473 7 242 0 70 2 -8.008599 1 1 121392 1 28 1 1 2 3 2.000113 0 0.110000 2.010000 0.115352 0.550000 0.240000 1.000000 1.000000 0.597372 0.550000 0 3.700000e-01 8.500000e-01 CDH10 1008 broad.mit.edu 37 5 24511502 24511502 + Missense_Mutation SNP G G T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr5:24511502G>T ENST00000264463.4 - 6 1443 c.936C>A c.(934-936)gaC>gaA p.D312E NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 185 TATCAGTACCGTCACCATCAA 0.438000 HNSCC(23;0.051) 0 SO:0001583 missense ENST00000264463.4 1 1 hg19 CCDS3892.1 . . . . . . . . . . G 13.150000 2.151750 0.380210 . . ENSG00000040731 ENST00000264463 T 0.01685 4.69 5.220000 1.400000 0.223010 Cadherin (4);Cadherin-like (1); 0.049789 0.85682 D 0.000000 T 0.03220 0.0094 L 0.35723 1.085 0.350510 D 0.760673 P 0.42203 0.773 P 0.52856 0.711 T 0.53655 -0.8408 10 0.33940 T 0.23 . 8.807200 0.349450 0.7795:0.0:0.2205:0.0 . 312 Q9Y6N8 CAD10_HUMAN E 312 ENSP00000264463:D312E ENSP00000264463:D312E D - 3 2 CDH10 24547259 9.960000e-01 0.388240 0.987000 0.457990 0.607000 0.371470 0.495000 0.224830 0.004000 0.146820 -0.247000 0.119270 GAC TCGA-2J-AABV-01A-12D-A40W-08 CDH10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207345.2 0 0 0 13 612 0 201 0 0 0 0 201 2 0 0 0 0 0 2 1 0.999474 12 602 0 201 2 -2.536928 1 1 0 0 1 1 2 3 2.000113 0 0.110000 2.010000 0.115352 0.400000 0.210000 1.000000 0.380000 0.456447 0.400000 0 2.900000e-01 5.600000e-01 RICTOR 253260 broad.mit.edu 37 5 38954899 38954899 + Missense_Mutation SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr5:38954899C>T ENST00000357387.3 - 27 2704 c.2674G>A c.(2674-2676)Ggc>Agc p.G892S RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR NM_152756.3 NP_689969.2 RPTOR independent companion of MTOR, complex 2 75 all_lung(31;0.000396) AAATGGCAGCCTGTTTTATGG 0.313000 0 SO:0001583 missense ENST00000357387.3 1 1 hg19 CCDS34148.1 . . . . . . . . . . C 35.000000 5.531120 0.964460 . . ENSG00000164327 ENST00000357387;ENST00000296782 T;T 0.66460 -0.21;-0.17 5.790000 5.790000 0.918170 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.84356 0.5454 M 0.84219 2.685 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.996 D 0.85682 0.1301 10 0.87932 D 0 -9.9909 20.030800 0.975360 0.0:1.0:0.0:0.0 . 892;892 Q6R327;Q6R327-3 RICTR_HUMAN;. S 892 ENSP00000349959:G892S;ENSP00000296782:G892S ENSP00000296782:G892S G - 1 0 RICTOR 38990656 1 0.714170 1.000000 0.803570 0.961000 0.630800 6.707000 0.746540 2.732000 0.935760 0.585000 0.799380 GGC TCGA-2J-AABV-01A-12D-A40W-08 RICTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366985.1 0 0 0 13 525 0 215 0 0 0 0 215 2 0 0 0 0 0 2 1 0.999454 13 511 0 214 2 -3.271765 1 1 0 0 1 1 2 3 2.000113 0 0.110000 2.010000 0.115352 0.460000 0.250000 1.000000 0.440000 0.514798 0.460000 0 3.400000e-01 6.500000e-01 KIAA0408 9729 broad.mit.edu 37 6 127768717 127768717 + Silent SNP C C T TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr6:127768717C>T ENST00000483725.3 - 5 1083 c.747G>A c.(745-747)acG>acA p.T249T SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 28 CACATTTTTTCGTAGAATTGC 0.388000 0 SO:0001819 synonymous_variant ENST00000483725.3 1 1 hg19 CCDS34531.1 TCGA-2J-AABV-01A-12D-A40W-08 KIAA0408-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042145.3 0 0 0 14 444 0 145 0 0 0 0 145 2 0 0 0 0 0 2 1 0.999739 14 438 0 144 2 -2.927072 1 1 121412 39 48 1 1 2 3 2.008671 0 0.110000 2.010000 0.117282 0.590000 0.330000 1.000000 0.550000 0.636388 0.590000 0 4.400000e-01 8.600000e-01 HIST1H2BE 8344 broad.mit.edu 37 6 26184216 26184216 + Missense_Mutation SNP T T G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr6:26184216T>G ENST00000356530.3 + 1 259 c.193T>G c.(193-195)Tcc>Gcc p.S65A NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 4 GATCATGAATTCCTTTGTCAA 0.587000 0 SO:0001583 missense ENST00000356530.3 0 1 hg19 CCDS4588.1 . . . . . . . . . . . 15.080000 2.725694 0.488330 . . ENSG00000197697 ENST00000356530 T 0.67171 -0.25 4.960000 4.960000 0.655610 . 0.000000 0.30732 U 0.008990 T 0.70745 0.3259 . . . 0.400500 D 0.975766 . . . . . . T 0.76337 -0.2996 7 0.87932 D 0 . 13.793700 0.631570 0.0:0.0:0.0:1.0 . . . . A 65 ENSP00000348924:S65A ENSP00000348924:S65A S + 1 0 HIST1H2BE 26292195 1 0.714170 1.000000 0.803570 0.022000 0.105750 7.612000 0.829750 2.005000 0.587580 0.438000 0.288310 TCC TCGA-2J-AABV-01A-12D-A40W-08 HIST1H2BE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040090.1 0 0 0 10 842 0 275 0 0 0 0 275 2 0 0 0 0 0 2 1 0.996495 10 822 0 272 2 -3.318819 1 1 0 0 1 0 0 0 1.956692 0 0.110000 2.010000 0.085867 0.210000 0.100000 0.360000 0.210000 0.225164 0.210000 0 1.500000e-01 2.900000e-01 MLXIPL 51085 broad.mit.edu 37 7 73008307 73008307 + Missense_Mutation SNP A A G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr7:73008307A>G ENST00000313375.3 - 17 2494 c.2447T>C c.(2446-2448)cTg>cCg p.L816P MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000434326.1_3'UTR NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 MLXPL_HUMAN MLX interacting protein-like 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TAGGGAGTTCAGGACAGCTGG 0.607000 0 SO:0001583 missense ENST00000313375.3 0 1 hg19 CCDS5553.1 . . . . . . . . . . A 17.710000 3.457595 0.634010 . . ENSG00000009950 ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189 T;T;T;T;T 0.33865 2.03;2.05;2.02;2.06;1.39 4.610000 3.410000 0.390460 . 0.343732 0.23567 N 0.046791 T 0.54598 0.1868 M 0.70595 2.14 0.536880 D 0.999972 D;D;D;D 0.76494 0.999;0.999;0.998;0.998 D;D;D;D 0.83275 0.946;0.976;0.996;0.996 T 0.54437 -0.8294 10 0.87932 D 0 -16.4415 7.976300 0.301570 0.7918:0.2082:0.0:0.0 . 816;797;814;795 Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4 MLXPL_HUMAN;.;.;. P 814;797;816;795;723 ENSP00000412330:L814P;ENSP00000406296:L797P;ENSP00000320886:L816P;ENSP00000346629:L795P;ENSP00000378616:L723P ENSP00000320886:L816P L - 2 0 MLXIPL 72646243 1 0.714170 0.996000 0.522420 0.836000 0.474000 8.527000 0.905940 0.756000 0.330130 0.459000 0.354650 CTG TCGA-2J-AABV-01A-12D-A40W-08 MLXIPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252262.1 0 0 0 5 165 0 50 0 1.589293e-01 0 20 0 50 2 0 0 0 0 0 2 1 0.937512 5 164 0 49 2 -7.229408 1 0 0 0 1 1 2 3 2.014239 0 0.110000 2.010000 0.118244 0.620000 0.230000 1.000000 1.000000 0.654045 0.620000 0 3.800000e-01 1 RGS22 26166 broad.mit.edu 37 8 101083654 101083654 + Silent SNP A A G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr8:101083654A>G ENST00000360863.6 - 6 731 c.537T>C c.(535-537)ccT>ccC p.P179P RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.P179P NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 RGS22/SYCP1(2) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTCAGTGGCAGGAGGTGGTA 0.398000 0 SO:0001819 synonymous_variant ENST00000360863.6 0 1 hg19 CCDS43758.1 TCGA-2J-AABV-01A-12D-A40W-08 RGS22-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000380365.1 0 0 0 8 419 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 0.988561 8 410 0 110 2 -3.065320 1 1 0 0 1 1 2 3 2.058916 0 0.110000 2.010000 0.128220 0.410000 0.170000 1.000000 0.340000 0.523814 0.410000 0 2.700000e-01 1 FAM167A 83648 broad.mit.edu 37 8 11301851 11301851 + Missense_Mutation SNP C C T rs146121515 TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chr8:11301851C>T ENST00000528897.1 - 2 689 c.70G>A c.(70-72)Gat>Aat p.D24N FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N|FAM167A_ENST00000284486.4_Missense_Mutation_p.D24N|FAM167A_ENST00000531564.1_5'Flank Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 9 AGGTGGTCATCGGGTGGTGCG 0.647000 0 SO:0001583 missense ENST00000528897.1 1 1 hg19 CCDS5981.1 . . . . . . . . . . C 25.600000 4.656138 0.880560 2.27E-4 1.16E-4 ENSG00000154319 ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804 T;T;T;T 0.08634 3.07;3.07;3.07;3.07 5.340000 4.470000 0.543850 . 0.000000 0.85682 D 0.000000 T 0.11495 0.0280 M 0.64997 1.995 0.584320 D 0.999995 D 0.62365 0.991 B 0.41174 0.349 T 0.03717 -1.1010 10 0.72032 D 0.01 -31.7921 13.204200 0.597870 0.0:0.9239:0.0:0.0761 . 24 Q96KS9 F167A_HUMAN N 24 ENSP00000284486:D24N;ENSP00000432232:D24N;ENSP00000436655:D24N;ENSP00000431951:D24N ENSP00000284486:D24N D - 1 0 FAM167A 11339261 1 0.714170 0.187000 0.232140 0.104000 0.192100 5.466000 0.667310 1.499000 0.486170 -0.136000 0.146810 GAT TCGA-2J-AABV-01A-12D-A40W-08 FAM167A-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000383901.1 1 0 1 193 768 0 163 0 0 0 0 163 2 0 0 0 0 0 2 1 1.000000 185 752 0 157 2 -3.654621 1 1 121404 11 45 1 0.110000 2.010000 0 0 TBX22 50945 broad.mit.edu 37 X 79282761 79282761 + Missense_Mutation SNP A A G TCGA-2J-AABV-01A-12D-A40W-08 TCGA-2J-AABV-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25d7033a-dee7-4246-bad5-bf3b9a9f5ebf 0083afb4-809b-4702-928e-69541aa23d2f g.chrX:79282761A>G ENST00000373294.5 + 6 833 c.805A>G c.(805-807)Aaa>Gaa p.K269E TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000442340.1_Missense_Mutation_p.K149E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 65 ATAGATTACGAAACTAAAAAT 0.348000 0 SO:0001583 missense ENST00000373294.5 1 1 hg19 CCDS14445.1 . . . . . . . . . . A 17.840000 3.487256 0.639620 . . ENSG00000122145 ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291 D;D;D;D 0.89875 -2.58;-2.58;-2.58;-2.58 3.750000 3.750000 0.430780 p53-like transcription factor, DNA-binding (1); 0.000000 0.85682 D 0.000000 D 0.91978 0.7459 L 0.58810 1.83 0.584320 D 0.999995 D 0.76494 0.999 D 0.72338 0.977 D 0.92101 0.5688 10 0.72032 D 0.01 . 10.830700 0.466590 1.0:0.0:0.0:0.0 . 269 Q9Y458 TBX22_HUMAN E 269;149;269;149 ENSP00000362393:K269E;ENSP00000396394:K149E;ENSP00000362390:K269E;ENSP00000362388:K149E ENSP00000362388:K149E K + 1 0 TBX22 79169417 1 0.714170 0.998000 0.565050 0.691000 0.401730 6.266000 0.725400 1.495000 0.485490 0.486000 0.481410 AAA TCGA-2J-AABV-01A-12D-A40W-08 TBX22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057334.1 1 0 0 7 111 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 0.979870 6 109 0 46 2 -4.579968 1 1 0 0 1 0 1 1 0.110000 2.010000 0.110000 0.530000 0.240000 0.890000 0.510000 0.553838 0.530000 0 3.700000e-01 7.300000e-01