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 CCDC93 54520 broad.mit.edu 37 2 118705727 118705727 + Frame_Shift_Del DEL T T - TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr2:118705727delT ENST00000376300.2 - 15 1315 c.1178delA c.(1177-1179)aatfs p.N393fs CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 29 CAGATTTTCATTCATGGCTAC 0.373000 0 SO:0001589 frameshift_variant ENST00000376300.2 1 1 hg19 CCDS2121.2 TCGA-HZ-A49H-01A-11D-A26I-08 CCDC93-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000129615.1 1 0 0 158 1296 0 131 0 3.332791e-02 0 3 0 131 2 0 0 0 0 0 0 1 1.000000 174 1283 2 131 46 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.001434 0 0.050000 2 0.061960 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 PSD 5662 broad.mit.edu 37 10 104170669 104170669 + Silent SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr10:104170669G>A ENST00000020673.5 - 10 2563 c.2037C>T c.(2035-2037)atC>atT p.I679I PSD_ENST00000406432.1_Silent_p.I679I NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 34 CCAGGTTCCCGATGAAGTCCC 0.632000 0 SO:0001819 synonymous_variant ENST00000020673.5 1 1 hg19 CCDS31272.1 TCGA-HZ-A49H-01A-11D-A26I-08 PSD-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050041.2 1 0 0 30 603 0 112 0 9.917710e-02 0 11 0 112 2 0 0 0 0 0 2 1 1.000000 30 595 0 109 2 0 0 0 0 112 2 -5.423394 1 1 0 0 1 0 1 1 1.998401 0 0.050000 2 0.037487 0.990000 0.990000 1 1 0.999605 0.990000 1 0.990000 1.000000 NAA40 79829 broad.mit.edu 37 11 63720021 63720021 + Missense_Mutation SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr11:63720021G>A ENST00000377793.4 + 5 495 c.394G>A c.(394-396)Gat>Aat p.D132N NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N|NAA40_ENST00000536939.1_3'UTR NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 5 GGAGTGTGGGGATGAAGTCCT 0.582000 0 SO:0001583 missense ENST00000377793.4 0 1 hg19 CCDS8053.1 . . . . . . . . . . G 33 5.219701 0.95139 . . ENSG00000110583 ENST00000377793;ENST00000456907;ENST00000542163 T;T;T 0.21932 1.98;1.98;1.98 5.63 5.63 0.86233 GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2); 0.044312 0.85682 D 0.000000 T 0.31358 0.0794 L 0.45422 1.42 0.80722 D 1 P;P 0.52577 0.954;0.922 P;P 0.54060 0.741;0.697 T 0.00896 -1.1523 10 0.18276 T 0.48 -14.1974 18.432 0.90628 0.0:0.0:1.0:0.0 . 92;132 B4DU10;Q86UY6 .;NAA40_HUMAN N 132;92;111 ENSP00000367024:D132N;ENSP00000407578:D92N;ENSP00000442055:D111N ENSP00000367024:D132N D + 1 0 NAA40 63476597 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 9.514000 0.98013 2.645000 0.89757 0.484000 0.47621 GAT TCGA-HZ-A49H-01A-11D-A26I-08 NAA40-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396266.1 0 0 0 8 339 0 54 0 6.638870e-02 0 16 0 54 2 0 0 0 1 0 0 2 1 0.989196 8 336 0 54 2 0 0 0 0 54 2 -3.286392 1 1 121412 5 37 1 1 2 3 2.007870 0 0.050000 2 0.063578 0.990000 0.480000 1 1 0.902118 0.990000 1 0.720000 1.000000 FAT3 120114 broad.mit.edu 37 11 92533399 92533399 + Missense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr11:92533399C>T ENST00000298047.6 + 9 7237 c.7220C>T c.(7219-7221)gCc>gTc p.A2407V FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTGAATTAGCCCCCCGGGGC 0.443000 TCGA Ovarian(4;0.039) 0 SO:0001583 missense ENST00000298047.6 0 1 hg19 . . . . . . . . . . C 21.9 4.220431 0.79464 . . ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166 T;T;T 0.55588 0.51;0.51;0.51 5.86 5.86 0.93980 . . . . . T 0.74283 0.3696 M 0.74389 2.26 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.72404 -0.4304 9 0.45353 T 0.12 . 20.1772 0.98182 0.0:1.0:0.0:0.0 . 2407 Q8TDW7-3 . V 2407;2407;2257 ENSP00000298047:A2407V;ENSP00000387040:A2407V;ENSP00000432586:A2257V ENSP00000298047:A2407V A + 2 0 FAT3 92173047 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.755000 0.85180 2.778000 0.95560 0.655000 0.94253 GCC TCGA-HZ-A49H-01A-11D-A26I-08 FAT3-201 KNOWN basic protein_coding protein_coding 0 0 0 13 620 1 83 0 0 0 1 83 2 0 0 0 0 0 2 0 0.001734 13 615 2 82 33 0 0 0 1 83 2 -2.395632 0 1 0 0 1 0 1 1 1.998243 0 0.050000 2 0.037487 0.800000 0.450000 1 1 0.802264 0.800000 0 0.610000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 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 0 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-HZ-A49H-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 15 98 0 10 1 4.543920e-01 6 5 0 10 2 1 1 70 462 0 415 2 1 0.999904 15 97 0 10 2 1 1 1718 6247 0 10 2 -9.786752 1 1 0 0 1 1 2 3 2.005415 0 0.050000 2 0.062885 0.990000 0.990000 1 1 0.999999 0.990000 1 0.990000 1.000000 CPNE6 9362 broad.mit.edu 37 14 24546432 24546432 + Missense_Mutation SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr14:24546432G>A ENST00000397016.2 + 16 1680 c.1369G>A c.(1369-1371)Gtg>Atg p.V457M CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 22 CACTGCTATCGTGCGTGCCTC 0.617000 0 SO:0001583 missense ENST00000397016.2 1 1 hg19 CCDS9607.1 . . . . . . . . . . G 18.19 3.569874 0.65765 . . ENSG00000100884 ENST00000537691;ENST00000397016;ENST00000216775 T;T;T 0.31247 1.5;1.5;1.5 5.06 5.06 0.68205 von Willebrand factor, type A (2);Copine (1); 0.000000 0.48286 D 0.000197 T 0.66127 0.2758 M 0.93507 3.425 0.51233 D 0.999918 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.996;0.998;0.999 T 0.76454 -0.2953 10 0.87932 D 0 -12.3339 15.9207 0.79570 0.0:0.0:1.0:0.0 . 512;282;457 F5GXN1;B3KWK1;O95741 .;.;CPNE6_HUMAN M 512;457;457 ENSP00000440077:V512M;ENSP00000380211:V457M;ENSP00000216775:V457M ENSP00000216775:V457M V + 1 0 CPNE6 23616272 1.000000 0.71417 0.991000 0.47740 0.208000 0.24298 8.019000 0.88732 2.347000 0.79759 0.467000 0.42956 GTG TCGA-HZ-A49H-01A-11D-A26I-08 CPNE6-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071869.5 1 0 0 35 354 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 1.000000 34 348 0 65 2 0 0 0 0 65 2 -20.000000 1 1 0 0 1 1 2 3 2.008487 0 0.050000 2 0.063809 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 DOT1L 84444 broad.mit.edu 37 19 2210769 2210769 + Silent SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr19:2210769C>T ENST00000398665.3 + 14 1302 c.1266C>T c.(1264-1266)ccC>ccT p.P422P AC004490.1_ENST00000585593.1_RNA NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 42 Hepatocellular(1079;0.137) CTGCGAACCCCGAGCGGAAGC 0.632000 0 SO:0001819 synonymous_variant ENST00000398665.3 1 1 hg19 CCDS42460.1 . . . . . . . . . . C 9.563 1.119008 0.20877 0.0 2.41E-4 ENSG00000104885 ENST00000440640 T 0.43294 0.95 4.84 -1.75 0.08031 . 0.214680 0.38778 N 0.001567 T 0.40719 0.1128 . . . 0.80722 D 1 . . . . . . T 0.20806 -1.0264 7 0.44086 T 0.13 -23.3002 6.5387 0.22369 0.0:0.2079:0.1517:0.6404 . . . . L 209 ENSP00000388276:P209L ENSP00000388276:P209L P + 2 0 DOT1L 2161769 0.013000 0.17824 0.899000 0.35326 0.617000 0.37484 -1.172000 0.03112 -0.107000 0.12088 0.561000 0.74099 CCG TCGA-HZ-A49H-01A-11D-A26I-08 DOT1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318066.1 1 0 1 75 396 0 87 0 2.493253e-01 0 6 0 87 2 0 0 0 0 0 2 1 1.000000 75 394 0 86 2 0 0 0 0 87 2 -2.780457 1 1 120976 24 44 1 1 2 3 2.007428 0 0.050000 2 0.063347 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 ZNF284 342909 broad.mit.edu 37 19 44590411 44590411 + Missense_Mutation SNP T T G TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr19:44590411T>G ENST00000421176.3 + 5 996 c.780T>G c.(778-780)atT>atG p.I260M RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 15 Prostate(69;0.0435) AACCTCATATTTGTGAGGAAT 0.408000 0 SO:0001583 missense ENST00000421176.3 1 1 hg19 CCDS46099.1 . . . . . . . . . . t 12.86 2.064710 0.36470 . . ENSG00000186026 ENST00000421176 T 0.17528 2.27 2.59 -5.18 0.02840 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.13500 0.0327 N 0.26162 0.8 0.09310 N 1 P 0.52463 0.953 P 0.50860 0.652 T 0.13098 -1.0522 9 0.72032 D 0.01 . 4.1304 0.10146 0.4782:0.0:0.2078:0.3139 . 260 Q2VY69 ZN284_HUMAN M 260 ENSP00000411032:I260M ENSP00000411032:I260M I + 3 3 ZNF284 49282251 0.000000 0.05858 0.004000 0.12327 0.189000 0.23516 -4.639000 0.00205 -0.871000 0.04042 0.379000 0.24179 ATT TCGA-HZ-A49H-01A-11D-A26I-08 ZNF284-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460473.1 0 0 0 14 585 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 0.999745 14 581 0 67 2 0 0 0 0 67 2 -11.675770 1 1 0 0 1 1 2 3 2.014309 0 0.050000 2 0.064961 0.990000 0.570000 1 1 0.918239 0.990000 1 0.770000 1.000000 RBM15 64783 broad.mit.edu 37 1 110883698 110883698 + Silent SNP A A C TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr1:110883698A>C ENST00000369784.3 + 1 2571 c.1671A>C c.(1669-1671)gcA>gcC p.A557A RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.A557A|RBM15_ENST00000602849.1_Silent_p.A557A NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) GACATCGGGCACCAGACCCTT 0.532000 T MKL1 acute megakaryocytic leukemia Dom yes 1 1p13 64783 RNA binding motif protein 15 L 0 SO:0001819 synonymous_variant ENST00000369784.3 1 1 hg19 CCDS822.1 TCGA-HZ-A49H-01A-11D-A26I-08 RBM15-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000031114.2 0 0 0 10 342 0 59 0 1.050370e-03 0 2 0 59 2 0 0 0 0 0 2 1 0.996896 10 340 0 59 2 0 0 0 0 59 2 -10.493610 1 1 0 0 1 1 2 3 2.006151 0 0.050000 2 0.063116 0.990000 0.630000 1 1 0.958998 0.990000 1 0.900000 1.000000 PADI1 29943 broad.mit.edu 37 1 17570638 17570638 + Missense_Mutation SNP A A T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr1:17570638A>T ENST00000375471.4 + 16 1984 c.1892A>T c.(1891-1893)gAt>gTt p.D631V PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V|PADI1_ENST00000460293.1_3'UTR NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) L-Citrulline(DB00155) ATCTTCATTGATGACTACTTG 0.592000 Esophageal Squamous(80;414 1257 4580 27746 50832) 0 SO:0001583 missense ENST00000375471.4 1 1 hg19 CCDS178.1 . . . . . . . . . . A 18.33 3.601209 0.66445 . . ENSG00000142623 ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552 T;T;T;T 0.32988 1.43;1.43;1.43;1.43 5.19 5.19 0.71726 Protein-arginine deiminase, C-terminal (1); 0.055229 0.64402 D 0.000001 T 0.62221 0.2410 M 0.90019 3.08 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.81914 0.995;0.995 T 0.71283 -0.4639 10 0.87932 D 0 -21.0955 13.8958 0.63770 1.0:0.0:0.0:0.0 . 146;631 B4DPX6;Q9ULC6 .;PADI1_HUMAN V 631;188;146;102 ENSP00000364620:D631V;ENSP00000444032:D188V;ENSP00000396697:D146V;ENSP00000444833:D102V ENSP00000364620:D631V D + 2 0 PADI1 17443225 1.000000 0.71417 0.832000 0.32986 0.445000 0.32107 9.063000 0.93927 1.965000 0.57142 0.459000 0.35465 GAT TCGA-HZ-A49H-01A-11D-A26I-08 PADI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006621.1 0 0 0 12 425 0 81 0 5.400437e-03 0 4 0 81 2 0 0 0 0 0 2 1 0.999052 12 418 0 80 2 0 0 0 0 81 2 -11.302330 1 1 0 0 1 1 2 3 2.006151 0 0.050000 2 0.063116 0.990000 0.640000 1 1 0.957634 0.990000 1 0.890000 1.000000 GRIK3 2899 broad.mit.edu 37 1 37324731 37324731 + Missense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr1:37324731C>T ENST00000373091.3 - 7 1098 c.1082G>A c.(1081-1083)cGc>cAc p.R361H GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 p.R361H(2) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) GTTCATGAAGCGGCCGCCAAA 0.627000 2 Substitution - Missense(2) SO:0001583 missense ENST00000373091.3 1 1 hg19 CCDS416.1 . . . . . . . . . . C 35 5.578993 0.96565 . . ENSG00000163873 ENST00000373091;ENST00000373093 D;D 0.83163 -1.69;-1.69 5.68 5.68 0.88126 Extracellular ligand-binding receptor (1); 0.000000 0.85682 D 0.000000 D 0.89037 0.6601 M 0.71581 2.175 0.80722 D 1 D;D 0.55605 0.972;0.963 P;P 0.55545 0.778;0.703 D 0.88965 0.3396 10 0.54805 T 0.06 . 19.7849 0.96432 0.0:1.0:0.0:0.0 . 361;361 A9Z1Z8;Q13003 .;GRIK3_HUMAN H 361 ENSP00000362183:R361H;ENSP00000362185:R361H ENSP00000362183:R361H R - 2 0 GRIK3 37097318 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.785000 0.68998 2.671000 0.90904 0.650000 0.86243 CGC TCGA-HZ-A49H-01A-11D-A26I-08 GRIK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012053.1 1 0 1 83 437 1 108 0 0 0 1 108 2 0 0 0 0 0 2 1 1.000000 82 432 1 108 17 0 0 0 1 108 2 -20.000000 1 1 121412 7 39 1 1 2 3 2.006151 0 0.050000 2 0.063116 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 DMAP1 55929 broad.mit.edu 37 1 44680450 44680450 + Silent SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr1:44680450G>A ENST00000372289.2 + 3 536 c.273G>A c.(271-273)aaG>aaA p.K91K DMAP1_ENST00000315913.5_Silent_p.K91K|DMAP1_ENST00000361745.6_Silent_p.K91K NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 16 Acute lymphoblastic leukemia(166;0.155) GCTCCAAGAAGGTGCGGCCTT 0.612000 0 SO:0001819 synonymous_variant ENST00000372289.2 0 1 hg19 CCDS509.1 TCGA-HZ-A49H-01A-11D-A26I-08 DMAP1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000020027.3 0 0 0 10 416 0 85 0 5.223181e-01 0 70 0 85 2 0 0 0 0 0 2 1 0.996921 10 415 0 85 2 0 0 0 0 85 2 -3.799431 1 1 0 0 1 1 2 3 2.006151 0 0.050000 2 0.063116 0.990000 0.520000 1 1 0.912844 0.990000 1 0.750000 1.000000 MOV10L1 54456 broad.mit.edu 37 22 50553049 50553049 + Missense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr22:50553049C>T ENST00000262794.5 + 7 1207 c.1124C>T c.(1123-1125)cCa>cTa p.P375L MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10 RISC complex RNA helicase like 1 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) GGAATCTCTCCAGGTAGTGGA 0.512000 0 SO:0001583 missense ENST00000262794.5 1 1 hg19 CCDS14084.1 . . . . . . . . . . C 12.23 1.875431 0.33162 . . ENSG00000073146 ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615 D;D;T;D 0.85702 -1.83;-1.83;-1.42;-2.02 6.04 4.84 0.62591 . 0.562070 0.17296 N 0.179461 T 0.80874 0.4707 L 0.54323 1.7 0.80722 D 1 B;P;B;B 0.34724 0.418;0.465;0.335;0.335 B;B;B;B 0.34242 0.075;0.178;0.058;0.08 T 0.75445 -0.3315 10 0.17832 T 0.49 -3.1 13.463 0.61237 0.0:0.9129:0.0:0.0871 . 136;355;375;375 B7Z893;F5H403;A8MXC6;Q9BXT6 .;.;.;M10L1_HUMAN L 375;375;375;355 ENSP00000438978:P375L;ENSP00000262794:P375L;ENSP00000379199:P375L;ENSP00000438542:P355L ENSP00000262794:P375L P + 2 0 MOV10L1 48895176 0.715000 0.27946 0.641000 0.29422 0.103000 0.19146 1.020000 0.30027 2.873000 0.98535 0.563000 0.77884 CCA TCGA-HZ-A49H-01A-11D-A26I-08 MOV10L1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000075009.2 0 0 0 9 346 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 0.994293 9 345 0 43 2 0 0 0 0 43 2 -3.445724 1 1 0 0 1 1 2 3 2.002667 0 0.050000 2 0.062423 0.990000 0.540000 1 1 0.931395 0.990000 1 0.800000 1.000000 BMP2K 55589 broad.mit.edu 37 4 79792163 79792163 + Missense_Mutation SNP G G C rs2114202 byFrequency TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr4:79792163G>C ENST00000335016.5 + 11 1624 c.1458G>C c.(1456-1458)caG>caC p.Q486H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q486H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 13 agcagcagcagcaccaccacc 0.502000 0 SO:0001583 missense ENST00000335016.5 1 0 hg19 CCDS47083.1 41|41 0.018772893772893772|0.018772893772893772 17|17 0.034552845528455285|0.034552845528455285 2|2 0.0055248618784530384|0.0055248618784530384 5|5 0.008741258741258742|0.008741258741258742 17|17 0.022427440633245383|0.022427440633245383 G|G 0.076|0.076 -1.191925|-1.191925 0.01607|0.01607 .|. .|. ENSG00000138756|ENSG00000138756 ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889 .|T;T .|0.74947 .|0.87;-0.89 .|. .|. .|. .|. .|2.205680 .|0.02506 .|U .|0.091026 T|T 0.30727|0.30727 0.0774|0.0774 N|N 0.22421|0.22421 0.69|0.69 0.31708|0.31708 N|N 0.639909|0.639909 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.01281 .|0.0;0.0 T|T 0.29088|0.29088 -1.0023|-1.0023 4|9 .|0.14252 .|T .|0.57 .|. 5.0772|5.0772 0.14638|0.14638 0.0:0.6216:0.3784:0.0|0.0:0.6216:0.3784:0.0 rs2114202|rs2114202 .|486;486 .|Q9NSY1;Q4W5H2 .|BMP2K_HUMAN;. P|H 179|486;486;500 .|ENSP00000421768:Q486H;ENSP00000334836:Q486H .|ENSP00000264889:Q500H A|Q +|+ 1|3 0|2 BMP2K|BMP2K 80011187|80011187 0.025000|0.025000 0.19082|0.19082 0.098000|0.098000 0.21074|0.21074 0.021000|0.021000 0.10359|0.10359 -3.148000|-3.148000 0.00583|0.00583 -1.546000|-1.546000 0.01717|0.01717 -1.555000|-1.555000 0.00892|0.00892 GCA|CAG TCGA-HZ-A49H-01A-11D-A26I-08 BMP2K-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 0 0 1 45 316 0 37 1 5.412537e-01 4 10 0 37 2 0 0 0 0 0 2 1 1.000000 13 226 0 27 2 0 0 0 0 37 2 -0.981362 0 0 0 0 1 1 2 3 2.005335 0 0.050000 2 0.062885 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 ATP10B 23120 broad.mit.edu 37 5 160034027 160034027 + Missense_Mutation SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr5:160034027G>A ENST00000327245.5 - 19 3751 c.2905C>T c.(2905-2907)Cca>Tca p.P969S NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGCGGTCTGGCTTCTGTAGT 0.443000 0 SO:0001583 missense ENST00000327245.5 1 1 hg19 CCDS43394.1 . . . . . . . . . . G 7.993 0.753803 0.15778 . . ENSG00000118322 ENST00000327245 T 0.05996 3.36 5.05 0.51 0.16983 HAD-like domain (1); 0.350809 0.30742 N 0.008963 T 0.04588 0.0125 L 0.31845 0.965 0.20196 N 0.999925 B 0.30146 0.27 B 0.34931 0.192 T 0.36672 -0.9738 9 . . . . 3.8603 0.08993 0.0801:0.2168:0.4445:0.2586 . 969 O94823 AT10B_HUMAN S 969 ENSP00000313600:P969S . P - 1 0 ATP10B 159966605 0.572000 0.26668 0.873000 0.34254 0.294000 0.27393 0.461000 0.21940 0.526000 0.28541 -0.302000 0.09304 CCA TCGA-HZ-A49H-01A-11D-A26I-08 ATP10B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374127.1 1 0 1 67 545 0 56 0 9.781551e-02 1 4 0 56 2 0 0 0 0 0 2 1 1.000000 68 541 0 56 2 0 0 0 0 56 2 -19.997180 1 1 0 0 1 0 1 1 1.998932 0 0.050000 2 0.037731 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 ADAMTS12 81792 broad.mit.edu 37 5 33616037 33616037 + Missense_Mutation SNP T T G TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr5:33616037T>G ENST00000504830.1 - 15 2619 c.2284A>C c.(2284-2286)Aac>Cac p.N762H ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N677H|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 216 TAGTTCCCGTTCCACTGGATA 0.468000 HNSCC(64;0.19) 0 SO:0001583 missense ENST00000504830.1 1 1 hg19 CCDS34140.1 . . . . . . . . . . T 23.6 4.431270 0.83776 . . ENSG00000151388 ENST00000504830;ENST00000352040 T;T 0.51817 0.69;0.69 5.51 5.51 0.81932 ADAM-TS Spacer 1 (1); 0.089134 0.85682 D 0.000000 T 0.63920 0.2552 L 0.54323 1.7 0.80722 D 1 D;D 0.89917 1.0;0.975 D;P 0.91635 0.999;0.807 T 0.62821 -0.6773 10 0.40728 T 0.16 . 15.2861 0.73828 0.0:0.0:0.0:1.0 . 677;762 P58397-3;P58397 .;ATS12_HUMAN H 762;677 ENSP00000422554:N762H;ENSP00000344847:N677H ENSP00000344847:N677H N - 1 0 ADAMTS12 33651794 1.000000 0.71417 1.000000 0.80357 0.927000 0.56198 7.961000 0.87903 2.068000 0.61886 0.459000 0.35465 AAC TCGA-HZ-A49H-01A-11D-A26I-08 ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367164.2 0 0 0 18 629 0 93 0 0 0 1 0 93 2 0 0 0 0 0 2 1 0.999981 18 624 0 93 2 0 0 0 0 93 2 -14.982860 1 1 0 0 1 0 1 1 1.998981 0 0.050000 2 0.037731 0.990000 0.660000 1 1 0.946311 0.990000 1 0.850000 1.000000 ADAMTS12 81792 broad.mit.edu 37 5 33616038 33616038 + Nonsense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr5:33616038C>T ENST00000504830.1 - 15 2618 c.2283G>A c.(2281-2283)tgG>tgA p.W761* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 p.W761*(1) 216 AGTTCCCGTTCCACTGGATAA 0.468000 HNSCC(64;0.19) 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000504830.1 0 1 hg19 CCDS34140.1 . . . . . . . . . . C 44 10.873556 0.99481 . . ENSG00000151388 ENST00000504830;ENST00000352040 . . . 5.51 5.51 0.81932 . 0.057874 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.59425 D 0.04 . 19.015 0.92890 0.0:1.0:0.0:0.0 . . . . X 761;676 . ENSP00000344847:W676X W - 3 0 ADAMTS12 33651795 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 7.741000 0.84997 2.558000 0.86282 0.561000 0.74099 TGG TCGA-HZ-A49H-01A-11D-A26I-08 ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367164.2 0 0 0 18 630 0 95 0 0 0 1 0 95 2 0 0 0 0 0 2 1 0.999981 18 625 0 95 2 0 0 0 0 95 2 -3.258301 1 1 0 0 1 0 1 1 1.998981 0 0.050000 2 0.037731 0.990000 0.660000 1 1 0.945889 0.990000 1 0.840000 1.000000 GRM1 2911 broad.mit.edu 37 6 146720262 146720262 + Missense_Mutation SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr6:146720262G>A ENST00000282753.1 + 7 2322 c.2087G>A c.(2086-2088)cGg>cAg p.R696Q GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000392299.2_Missense_Mutation_p.R696Q Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 126 Ovarian(120;0.0387) ATCTGCACCCGGAAGCCCAGG 0.512000 0 SO:0001583 missense ENST00000282753.1 1 1 hg19 CCDS5209.1 . . . . . . . . . . G 12.70 2.016814 0.35606 . . ENSG00000152822 ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907 D;D;D;D;D;D 0.87491 -2.26;-2.26;-2.26;-2.26;-2.26;-2.26 5.51 5.51 0.81932 GPCR, family 3, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.84647 0.5518 L 0.37850 1.14 0.58432 D 0.999998 D;D;D 0.76494 0.997;0.999;0.997 P;D;P 0.64321 0.852;0.924;0.852 T 0.80883 -0.1183 10 0.06365 T 0.9 . 19.4081 0.94656 0.0:0.0:1.0:0.0 . 696;696;696 F8W805;Q13255;Q13255-2 .;GRM1_HUMAN;. Q 696 ENSP00000354896:R696Q;ENSP00000376119:R696Q;ENSP00000424095:R696Q;ENSP00000282753:R696Q;ENSP00000347437:R696Q;ENSP00000425599:R696Q ENSP00000282753:R696Q R + 2 0 GRM1 146761955 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.876000 0.87215 2.604000 0.88044 0.585000 0.79938 CGG TCGA-HZ-A49H-01A-11D-A26I-08 GRM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042574.1 0 0 0 17 846 0 114 0 0 0 0 114 2 0 0 0 0 0 2 1 0.999961 17 838 0 114 2 0 0 0 0 114 2 -2.193374 0 1 121412 4 41 1 0 1 1 1.991473 0 0.050000 2 0.035778 0.770000 0.460000 1 1 0.778958 0.770000 0 0.600000 0.970000 NRSN1 140767 broad.mit.edu 37 6 24134622 24134622 + Missense_Mutation SNP C C T rs143725119 TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr6:24134622C>T ENST00000378491.4 + 3 368 c.67C>T c.(67-69)Cgc>Tgc p.R23C NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C NM_080723.4 NP_542454.3 neurensin 1 22 TGGTTACCAGCGCTATGGAGT 0.517000 0 SO:0001583 missense ENST00000378491.4 1 1 hg19 CCDS4549.1 . . . . . . . . . . C 25.6 4.652867 0.88056 4.54E-4 0.0 ENSG00000152954 ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475 T;T;T 0.18338 2.22;2.22;2.22 5.85 5.85 0.93711 . 0.105826 0.64402 D 0.000003 T 0.27663 0.0680 L 0.57536 1.79 0.80722 D 1 D 0.76494 0.999 P 0.56700 0.804 T 0.01004 -1.1484 10 0.87932 D 0 . 20.1634 0.98142 0.0:1.0:0.0:0.0 . 23 Q8IZ57 NRSN1_HUMAN C 23 ENSP00000367752:R23C;ENSP00000367739:R23C;ENSP00000367736:R23C ENSP00000367736:R23C R + 1 0 NRSN1 24242601 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 3.736000 0.55052 2.773000 0.95371 0.655000 0.94253 CGC TCGA-HZ-A49H-01A-11D-A26I-08 NRSN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043866.1 0 0 0 10 313 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.996902 10 311 0 52 2 0 0 0 0 53 2 -10.452130 1 1 121412 5 39 1 1 2 3 2.003946 0 0.050000 2 0.062654 0.990000 0.680000 1 1 0.972313 0.990000 1 0.980000 1.000000 ZBTB22 9278 broad.mit.edu 37 6 33284203 33284203 + Missense_Mutation SNP G G A TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr6:33284203G>A ENST00000431845.2 - 2 642 c.491C>T c.(490-492)aCc>aTc p.T164I TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 21 AGTGACAGAGGTGGCTGCAGC 0.642000 0 SO:0001583 missense ENST00000431845.2 1 1 hg19 CCDS4775.1 . . . . . . . . . . G 10.31 1.314965 0.23908 . . ENSG00000236104 ENST00000418724;ENST00000431845 T;T 0.06142 3.34;3.34 3.53 3.53 0.40419 . 0.500652 0.15013 N 0.285427 T 0.01421 0.0046 N 0.14661 0.345 0.26247 N 0.978772 B 0.26975 0.165 B 0.22601 0.04 T 0.46775 -0.9167 10 0.33141 T 0.24 . 10.8007 0.46487 0.0:0.0:1.0:0.0 . 164 O15209 ZBT22_HUMAN I 164 ENSP00000404403:T164I;ENSP00000407545:T164I ENSP00000404403:T164I T - 2 0 ZBTB22 33392181 0.997000 0.39634 0.997000 0.53966 0.983000 0.72400 0.435000 0.21510 1.990000 0.58119 0.551000 0.68910 ACC TCGA-HZ-A49H-01A-11D-A26I-08 ZBTB22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076183.2 0 0 0 17 584 0 107 0 5.185119e-01 1 58 0 107 2 0 0 0 0 0 2 1 0.999964 17 581 0 106 2 0 0 0 0 107 2 -14.446480 1 1 0 0 1 1 2 3 2.003946 0 0.050000 2 0.062654 0.990000 0.720000 1 1 0.972032 0.990000 1 0.950000 1.000000 CDK5RAP2 55755 broad.mit.edu 37 9 123253652 123253652 + Missense_Mutation SNP A A C TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chr9:123253652A>C ENST00000349780.4 - 13 1594 c.1415T>G c.(1414-1416)tTg>tGg p.L472W CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 58 TTGATTGTGCAATTTTTTATT 0.318000 0 SO:0001583 missense ENST00000349780.4 1 1 hg19 CCDS6823.1 . . . . . . . . . . A 11.87 1.768643 0.31320 . . ENSG00000136861 ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313 T;T;T;T 0.49720 0.77;0.77;0.77;0.77 5.76 4.59 0.56863 . 0.528460 0.15845 N 0.241808 T 0.64778 0.2629 M 0.66939 2.045 0.09310 N 0.999999 D;D;D;D 0.89917 1.0;1.0;0.998;0.999 D;D;D;D 0.68943 0.961;0.961;0.944;0.915 T 0.56998 -0.7886 10 0.66056 D 0.02 . 11.7091 0.51614 0.8524:0.1476:0.0:0.0 . 273;472;472;472 Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8 .;.;.;CK5P2_HUMAN W 472;472;472;472;474 ENSP00000354065:L472W;ENSP00000352258:L472W;ENSP00000343818:L472W;ENSP00000353317:L472W ENSP00000341695:L474W L - 2 0 CDK5RAP2 122293473 0.059000 0.20769 0.001000 0.08648 0.030000 0.12068 3.122000 0.50446 0.969000 0.38237 0.528000 0.53228 TTG TCGA-HZ-A49H-01A-11D-A26I-08 CDK5RAP2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055535.1 1 0 1 36 250 0 31 0 4.613411e-02 0 3 0 31 2 0 0 0 0 0 2 1 1.000000 36 250 0 30 2 0 0 0 0 31 2 -20.000000 1 1 0 0 1 0 1 1 1.999863 0 0.050000 2 0.037975 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000 HS6ST2 90161 broad.mit.edu 37 X 131762528 131762528 + Missense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chrX:131762528C>T ENST00000370836.2 - 4 1956 c.1541G>A c.(1540-1542)cGt>cAt p.R514H HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 9 Acute lymphoblastic leukemia(192;0.000127) TTGTTCCTGACGCTTTCGCCT 0.483000 0 SO:0001583 missense ENST00000370836.2 0 1 hg19 CCDS48169.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 17.93 3.508910 0.64410 . . ENSG00000171004 ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833 T;T;T;T;T 0.81330 -1.4;-0.86;-0.77;-1.48;-1.25 6.01 4.25 0.50352 . 0.000000 0.85682 D 0.000000 T 0.70185 0.3195 L 0.54323 1.7 0.45899 D 0.998743 P;P;B 0.43231 0.801;0.801;0.019 B;B;B 0.27500 0.08;0.08;0.004 T 0.69960 -0.5003 10 0.72032 D 0.01 -3.7585 10.293 0.43608 0.0:0.7937:0.1322:0.0742 . 514;554;240 Q96MM7;E9PDY5;B7Z5H6 H6ST2_HUMAN;.;. H 368;514;554;240;408 ENSP00000359874:R368H;ENSP00000359873:R514H;ENSP00000429473:R554H;ENSP00000384013:R240H;ENSP00000359870:R408H ENSP00000359870:R408H R - 2 0 HS6ST2 131590209 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 6.070000 0.71220 0.665000 0.31066 0.594000 0.82650 CGT TCGA-HZ-A49H-01A-11D-A26I-08 HS6ST2-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058332.3 0 0 0 15 715 0 80 0 0 0 1 0 80 2 0 0 0 0 0 2 1 0.999865 14 712 0 80 2 0 0 0 0 80 2 -11.118570 1 1 120900 14 42 1 0 1 1 0.050000 2 0.050000 0.820000 0.480000 1 1 0.818909 0.820000 0 0.630000 1.000000 FAM47A 158724 broad.mit.edu 37 X 34149477 34149477 + Missense_Mutation SNP C C T TCGA-HZ-A49H-01A-11D-A26I-08 TCGA-HZ-A49H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23635060-618f-4272-9a34-284c65318d9a 27fb1352-19ad-417f-acbe-a2af1c099544 g.chrX:34149477C>T ENST00000346193.3 - 1 970 c.919G>A c.(919-921)Gag>Aag p.E307K NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 97 AGTGGAGTCTCGAAAGGCCGA 0.612000 0 SO:0001583 missense ENST00000346193.3 1 1 hg19 CCDS43926.1 . . . . . . . . . . c 9.037 0.988840 0.18966 . . ENSG00000185448 ENST00000346193 T 0.19806 2.12 0.13 0.13 0.14746 . . . . . T 0.11367 0.0277 L 0.52126 1.63 0.09310 N 1 P 0.49253 0.921 B 0.29353 0.101 T 0.30060 -0.9991 8 0.16896 T 0.51 . . . . . 307 Q5JRC9 FA47A_HUMAN K 307 ENSP00000345029:E307K ENSP00000345029:E307K E - 1 0 FAM47A 34059398 0.730000 0.28100 0.064000 0.19789 0.064000 0.16182 0.440000 0.21592 0.171000 0.19730 0.173000 0.16961 GAG TCGA-HZ-A49H-01A-11D-A26I-08 FAM47A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056205.1 1 0 1 36 197 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 1.000000 36 196 0 34 2 0 0 0 0 36 2 -20.000000 1 1 121366 1 32 1 0 1 1 0.050000 2 0.050000 0.990000 0.990000 1 1 1.000000 0.990000 1 0.990000 1.000000