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 SGK1 6446 broad.mit.edu 37 6 134491968 134491973 + In_Frame_Del DEL TTTGGG TTTGGG - TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 TTTGGG - TTTGGG TTTGGG Valid Somatic Phase_I WXS RNA Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:134491968_134491973delTTTGGG ENST00000237305.7 - 11 1207_1212 c.1119_1124delCCCAAA c.(1117-1125)aacccaaat>aat p.373_375NPN>N SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000367858.5_In_Frame_Del_p.468_470NPN>N|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N NM_005627.3 NP_005618.2 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 46 Colorectal(23;0.221) ACTCACCACATTTGGGTTAAAAGGGG 0.388000 0 SO:0001651 inframe_deletion ENST00000237305.7 1 1 hg19 CCDS5170.1 TCGA-HV-A5A5-01A-11D-A26I-08 SGK1-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042312.2 0 0 0 24 670 0 123 1 9.986496e-01 4 282 0 123 2 0 0 0 0 0 0 1 0.462010 45 687 2 125 27 -19.954690 1 1 0 0 1 0 0 0 1.966951 0 0.130000 1.930000 0.106776 0.510000 0.340000 0.740000 0.510000 0.531754 0.510000 0 0.420000 0.630000 MMP13 4322 broad.mit.edu 37 11 102816457 102816457 + Silent SNP A A T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:102816457A>T ENST00000260302.3 - 9 1261 c.1233T>A c.(1231-1233)atT>atA p.I411I MMP13_ENST00000340273.4_Silent_p.I411I NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Marimastat(DB00786) CTTTATCCATAATATGGTTAG 0.303000 0 SO:0001819 synonymous_variant ENST00000260302.3 1 1 hg19 CCDS8324.1 TCGA-HV-A5A5-01A-11D-A26I-08 MMP13-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000386648.1 1 0 0 16 191 0 28 0 6.971975e-03 0 2 0 28 2 0 0 0 0 0 2 1 0.999937 16 188 0 28 2 -19.990060 1 1 0 0 1 0 0 0 1.968664 0 0.130000 1.930000 0.107967 0.990000 0.680000 1.000000 1.000000 0.959584 0.990000 1 0.890000 1.000000 CCDC88B 283234 broad.mit.edu 37 11 64116904 64116904 + Silent SNP G G C TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr11:64116904G>C ENST00000356786.5 + 15 2762 c.2718G>C c.(2716-2718)ctG>ctC p.L906L CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 27 AGGAATTTCTGCGAGAAAAGG 0.652000 0 SO:0001819 synonymous_variant ENST00000356786.5 1 1 hg19 CCDS8072.2 TCGA-HV-A5A5-01A-11D-A26I-08 CCDC88B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000104845.1 1 0 1 13 91 0 30 0 6.562683e-01 1 16 0 30 2 0 0 0 0 0 2 1 0.999576 12 89 0 30 2 -19.957820 1 1 0 0 1 0 0 0 1.974689 0 0.130000 1.930000 0.110338 0.990000 0.920000 1.000000 1.000000 0.995370 0.990000 1 0.990000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 0 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-HV-A5A5-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 7 91 0 12 0 1.998835e-02 1 2 0 12 2 1 9.999987e-01 41 533 0 422 2 1 0.981909 7 91 0 11 2 -5.317441 1 1 121404 2 44 1 1 2 3 2.024156 0 0.130000 1.930000 0.137290 0.990000 0.520000 1.000000 1.000000 0.928016 0.990000 1 0.790000 1.000000 ADAMTS20 80070 broad.mit.edu 37 12 43886398 43886398 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr12:43886398G>A ENST00000389420.3 - 6 985 c.986C>T c.(985-987)aCa>aTa p.T329I ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GTTCTTTAATGTGGTAGCACC 0.363000 0 SO:0001583 missense ENST00000389420.3 1 1 hg19 CCDS31778.2 . . . . . . . . . . G 16.01 3.000515 0.54147 . . ENSG00000173157 ENST00000389420;ENST00000553158;ENST00000389417 T;T 0.65916 -0.18;-0.18 4.79 4.79 0.61399 Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2); 0.000000 0.50627 D 0.000108 D 0.83880 0.5350 M 0.91354 3.2 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 D 0.87771 0.2605 10 0.87932 D 0 . 18.7307 0.91734 0.0:0.0:1.0:0.0 . 329 P59510 ATS20_HUMAN I 329 ENSP00000374071:T329I;ENSP00000448341:T329I ENSP00000374068:T329I T - 2 0 ADAMTS20 42172665 1.000000 0.71417 0.633000 0.29310 0.037000 0.13140 9.136000 0.94489 2.587000 0.87381 0.557000 0.71058 ACA TCGA-HV-A5A5-01A-11D-A26I-08 ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403643.1 1 0 0 10 114 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 0.996901 10 111 0 32 2 -15.198080 1 1 0 0 1 1 2 3 2.024156 0 0.130000 1.930000 0.137290 0.990000 0.660000 1.000000 1.000000 0.966191 0.990000 1 0.940000 1.000000 KBTBD6 89890 broad.mit.edu 37 13 41705969 41705969 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:41705969G>A ENST00000379485.1 - 1 913 c.679C>T c.(679-681)Cgc>Tgc p.R227C KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) CTATCCAAGCGCAGGACAGCC 0.577000 0 SO:0001583 missense ENST00000379485.1 1 1 hg19 CCDS9376.1 . . . . . . . . . . g 8.936 0.964565 0.18583 . . ENSG00000165572 ENST00000379485;ENST00000499385 T;T 0.69926 -0.44;-0.44 3.69 2.84 0.33178 BTB/Kelch-associated (2); 0.403521 0.25071 N 0.033363 T 0.53465 0.1798 L 0.47716 1.5 0.39301 D 0.964912 B;B 0.16396 0.013;0.017 B;B 0.12156 0.006;0.007 T 0.52177 -0.8610 10 0.46703 T 0.11 . 4.7523 0.13066 0.1156:0.0:0.6731:0.2113 . 161;227 F5GZN7;Q86V97 .;KBTB6_HUMAN C 227;161 ENSP00000368799:R227C;ENSP00000444326:R161C ENSP00000368799:R227C R - 1 0 KBTBD6 40603969 0.993000 0.37304 0.992000 0.48379 0.726000 0.41606 0.964000 0.29306 0.891000 0.36235 0.462000 0.41574 CGC TCGA-HV-A5A5-01A-11D-A26I-08 KBTBD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044657.1 0 0 0 16 466 0 91 0 6.645258e-02 0 12 0 91 2 0 0 0 0 0 2 1 0.999933 15 465 0 90 2 -3.234467 1 1 121412 1 37 1 1 2 3 2.131836 1 0.130000 1.930000 0.183099 0.550000 0.320000 0.840000 0.540000 0.569963 0.550000 0 0.420000 0.700000 NEK5 341676 broad.mit.edu 37 13 52661584 52661584 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr13:52661584G>A ENST00000355568.4 - 15 1421 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 p.R485G(1)|p.R428G(1) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GAAGATGGACGAAGACCCTAT 0.343000 2 Substitution - Missense(2) SO:0001583 missense ENST00000355568.4 1 1 hg19 CCDS31979.1 . . . . . . . . . . G 15.71 2.913462 0.52439 . . ENSG00000197168 ENST00000355568 T 0.79247 -1.25 5.45 2.83 0.33086 . 0.000000 0.64402 D 0.000003 D 0.84061 0.5389 M 0.65498 2.005 0.33027 D 0.529691 D 0.89917 1.0 D 0.91635 0.999 D 0.85308 0.1077 10 0.87932 D 0 . 7.7703 0.29004 0.2616:0.0:0.7384:0.0 . 428 Q6P3R8 NEK5_HUMAN C 428 ENSP00000347767:R428C ENSP00000347767:R428C R - 1 0 NEK5 51559585 1.000000 0.71417 0.992000 0.48379 0.707000 0.40811 1.885000 0.39678 0.286000 0.22352 -0.812000 0.03155 CGT TCGA-HV-A5A5-01A-11D-A26I-08 NEK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045045.3 1 0 0 18 401 0 43 0 0 0 1 0 43 2 0 0 0 0 0 2 1 0.999979 18 392 0 43 2 -3.006531 1 1 121412 1 29 1 1 2 3 2.131836 1 0.130000 1.930000 0.183099 0.710000 0.430000 1.000000 1.000000 0.726107 0.710000 0 0.560000 0.890000 PCK2 5106 broad.mit.edu 37 14 24569250 24569250 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr14:24569250C>T ENST00000216780.4 + 7 1330 c.1062C>T c.(1060-1062)gcC>gcT p.A354A PCK2_ENST00000545054.2_Silent_p.A220A|PCK2_ENST00000558096.1_Silent_p.A220A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000559250.1_Silent_p.A366A NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 18 TTGGGGTTGCCCCTGGTACCT 0.502000 0 SO:0001819 synonymous_variant ENST00000216780.4 1 1 hg19 CCDS9609.1 TCGA-HV-A5A5-01A-11D-A26I-08 PCK2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071900.3 1 0 1 101 655 0 130 1 9.995625e-01 27 47 0 130 2 0 0 0 0 0 2 1 1.000000 100 654 0 129 2 -3.221884 1 1 0 0 1 1 2 3 2.111925 1 0.130000 1.930000 0.183099 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 VKORC1 79001 broad.mit.edu 37 16 31102595 31102595 + Missense_Mutation SNP C C A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:31102595C>A ENST00000394975.2 - 3 579 c.352G>T c.(352-354)Gtc>Ttc p.V118F VKORC1_ENST00000319788.7_Missense_Mutation_p.C145F|VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|PRSS53_ENST00000280606.6_5'Flank|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F NM_024006.4 NP_076869.1 Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 4 Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) GCCAGGTAGACAGAACCAGCG 0.557000 0 SO:0001583 missense ENST00000394975.2 1 1 hg19 CCDS10703.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 16.16|16.16 3.045854|3.045854 0.55110|0.55110 .|. .|. ENSG00000167397|ENSG00000167397 ENST00000300851;ENST00000319788;ENST00000354895;ENST00000394971;ENST00000498155|ENST00000394975 D;D;D|D 0.98120|0.98264 -4.39;-4.73;-4.09|-4.83 5.92|5.92 -3.16|-3.16 0.05217|0.05217 .|Vitamin K epoxide reductase (2); .|0.619698 .|0.14857 .|N .|0.294303 D|D 0.95204|0.95204 0.8445|0.8445 .|. .|. .|. 0.09310|0.09310 N|N 0.999999|0.999999 B;B|B 0.30824|0.16603 0.296;0.128|0.018 B;B|B 0.29785|0.22152 0.107;0.035|0.038 T|T 0.82508|0.82508 -0.0422|-0.0422 8|8 0.87932|. D|. 0|. -15.2501|-15.2501 18.204|18.204 0.89848|0.89848 0.0:0.1877:0.7473:0.065|0.0:0.1877:0.7473:0.065 .|. 145;81|118 Q9BQB6-2;A6NIQ6|Q9BQB6 .;.|VKOR1_HUMAN F|F 138;145;81;149;150|118 ENSP00000300851:C138F;ENSP00000326135:C145F;ENSP00000346969:C81F|ENSP00000378426:V118F ENSP00000300851:C138F|. C|V -|- 2|1 0|0 VKORC1|VKORC1 31010096|31010096 0.565000|0.565000 0.26610|0.26610 0.676000|0.676000 0.29932|0.29932 0.976000|0.976000 0.68499|0.68499 0.092000|0.092000 0.15066|0.15066 -0.397000|-0.397000 0.07691|0.07691 -0.244000|-0.244000 0.11960|0.11960 TGT|GTC TCGA-HV-A5A5-01A-11D-A26I-08 VKORC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000108582.1 1 0 0 9 131 0 32 1 9.999965e-01 39 419 0 32 2 0 0 0 0 0 2 1 0.994528 9 130 0 32 2 -13.191870 1 1 0 0 1 1 2 3 2.051020 0 0.130000 1.930000 0.142815 0.990000 0.530000 1.000000 1.000000 0.917441 0.990000 1 0.760000 1.000000 MT1B 4490 broad.mit.edu 37 16 56686964 56686964 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr16:56686964G>A ENST00000334346.2 + 3 228 c.173G>A c.(172-174)cGc>cAc p.R58H RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.P57P NM_005947.2 NP_005938.1 P07438 MT1B_HUMAN metallothionein 1B 4 GAGAAGTGCCGCTGCTGTGCC 0.542000 0 SO:0001583 missense ENST00000334346.2 1 1 hg19 CCDS10765.1 . . . . . . . . . . G 7.922 0.738792 0.15642 . . ENSG00000169688 ENST00000334346 T 0.09911 2.93 3.06 0.876 0.19138 Metallothionein domain, vertebrate (1);Metallothionein domain (1); 0.285648 0.28140 U 0.016444 T 0.07413 0.0187 . . . 0.80722 D 1 P 0.39116 0.66 B 0.32762 0.152 T 0.24693 -1.0153 9 0.87932 D 0 . 5.4103 0.16344 0.1233:0.2054:0.6713:0.0 . 58 P07438 MT1B_HUMAN H 58 ENSP00000334998:R58H ENSP00000334998:R58H R + 2 0 MT1B 55244465 1.000000 0.71417 0.895000 0.35142 0.011000 0.07611 1.851000 0.39338 0.104000 0.17725 -0.279000 0.10071 CGC TCGA-HV-A5A5-01A-11D-A26I-08 MT1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257057.2 1 0 0 42 497 0 109 0 0 0 1 0 109 2 0 0 0 0 0 2 1 1.000000 40 496 0 109 2 -10.311070 1 1 121412 5 41 1 1 2 3 2.035249 0 0.130000 1.930000 0.139508 0.990000 0.890000 1.000000 1.000000 0.993707 0.990000 1 0.990000 1.000000 SPNS3 201305 broad.mit.edu 37 17 4356344 4356344 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:4356344C>T ENST00000355530.2 + 8 1237 c.957C>T c.(955-957)ggC>ggT p.G319G SPNS3_ENST00000333476.2_Silent_p.G192G|SPNS3_ENST00000576069.1_3'UTR NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 28 TCATGACCGGCGTCATTGGGG 0.567000 0 SO:0001819 synonymous_variant ENST00000355530.2 1 1 hg19 CCDS11045.1 TCGA-HV-A5A5-01A-11D-A26I-08 SPNS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438793.1 0 0 0 22 492 0 85 0 3.696631e-02 0 7 0 85 2 0 0 0 0 0 2 1 0.999999 21 486 0 85 2 -4.199964 1 1 121412 7 41 1 0 1 1 1.916031 0 0.130000 1.930000 0.070811 0.610000 0.390000 0.870000 0.600000 0.624284 0.610000 0 0.490000 0.740000 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 T A T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr17:7578235T>A ENST00000269305.4 - 6 803 c.614A>T c.(613-615)tAt>tTt p.Y205F TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000420246.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F 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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GTCATCCAAATACTCCACACG 0.542000 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 117 Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . T 20.3 3.966153 0.74131 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99856 -7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21 5.41 4.33 0.51752 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 0.99837 0.9926 M 0.88906 2.99 0.54753 D 0.999982 D;D;D;D;D;D;D 0.69078 0.962;0.996;0.99;0.996;0.995;0.986;0.997 D;D;D;D;D;D;D 0.76071 0.946;0.984;0.966;0.979;0.987;0.979;0.969 D 0.97337 0.9954 10 0.87932 D 0 -5.8058 9.707 0.40222 0.0:0.0827:0.0:0.9173 . 166;205;205;112;205;205;205 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. F 205;205;205;205;205;205;194;112;73;112;73 ENSP00000410739:Y205F;ENSP00000352610:Y205F;ENSP00000269305:Y205F;ENSP00000398846:Y205F;ENSP00000391127:Y205F;ENSP00000391478:Y205F;ENSP00000425104:Y73F;ENSP00000423862:Y112F ENSP00000269305:Y205F Y - 2 0 TP53 7518960 1.000000 0.71417 0.137000 0.22149 0.045000 0.14185 7.996000 0.88334 1.001000 0.39076 -0.256000 0.11100 TAT TCGA-HV-A5A5-01A-11D-A26I-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 19 182 0 42 1 9.738842e-01 22 38 0 42 2 1 1 109 1467 0 1380 2 1 0.999993 19 181 0 42 2 -20.000000 1 1 0 0 1 0 1 1 1.916031 0 0.130000 1.930000 0.070811 0.920000 0.680000 1.000000 1.000000 0.910877 0.920000 1 0.810000 1.000000 CD226 10666 broad.mit.edu 37 18 67614045 67614045 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr18:67614045C>T ENST00000280200.4 - 3 575 c.307G>A c.(307-309)Gtt>Att p.V103I CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 24 Esophageal squamous(42;0.129) TAGTAGCCAACATCATCTTCA 0.418000 NSCLC(184;838 2130 8673 21498 50749) 0 SO:0001583 missense ENST00000280200.4 1 1 hg19 CCDS11997.1 . . . . . . . . . . C 4.746 0.138729 0.09083 . . ENSG00000150637 ENST00000280200 T 0.64803 -0.12 5.51 0.462 0.16695 Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.314578 0.33916 N 0.004434 T 0.31606 0.0802 N 0.05510 -0.035 0.09310 N 1 B 0.20368 0.044 B 0.20577 0.03 T 0.13124 -1.0521 10 0.14252 T 0.57 . 4.3927 0.11348 0.0:0.4783:0.1594:0.3623 . 103 Q15762 CD226_HUMAN I 103 ENSP00000280200:V103I ENSP00000280200:V103I V - 1 0 CD226 65765025 0.000000 0.05858 0.009000 0.14445 0.442000 0.32017 -0.509000 0.06336 0.077000 0.16863 0.655000 0.94253 GTT TCGA-HV-A5A5-01A-11D-A26I-08 CD226-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256226.3 1 0 0 13 195 0 37 0 4.739336e-03 0 2 0 37 2 0 0 0 0 0 2 1 0.999585 13 195 0 36 2 -5.560943 1 1 0 0 1 0 0 0 1.818857 1 0.130000 1.930000 0.033226 0.410000 0.290000 1.000000 0.450000 0.426184 0.410000 0 0.360000 0.450000 LRFN1 57622 broad.mit.edu 37 19 39804836 39804836 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:39804836C>T ENST00000248668.4 - 1 1140 c.1141G>A c.(1141-1143)Gcg>Acg p.A381T CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCCACGGGCGCCGTCGCTTCC 0.692000 0 SO:0001583 missense ENST00000248668.4 0 1 hg19 CCDS46071.1 . . . . . . . . . . C 17.94 3.510446 0.64522 . . ENSG00000128011 ENST00000248668 T 0.68624 -0.34 4.53 4.53 0.55603 Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.44483 D 0.000444 T 0.65923 0.2738 N 0.25286 0.73 0.58432 D 0.999998 P 0.46952 0.887 P 0.55391 0.775 T 0.66492 -0.5910 10 0.40728 T 0.16 . 14.7902 0.69837 0.0:1.0:0.0:0.0 . 381 Q9P244 LRFN1_HUMAN T 381 ENSP00000248668:A381T ENSP00000248668:A381T A - 1 0 LRFN1 44496676 0.996000 0.38824 0.615000 0.29064 0.472000 0.32918 2.624000 0.46444 2.352000 0.79861 0.655000 0.94253 GCG TCGA-HV-A5A5-01A-11D-A26I-08 LRFN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463835.1 0 0 0 7 203 0 36 0 1.451090e-02 0 5 0 36 2 0 0 0 0 0 2 1 0.980810 7 202 0 35 2 -9.365681 1 1 121162 1 24 1 1 8 9 2.882683 1 0.130000 1.930000 0.386719 0.800000 0.350000 1.000000 1.000000 0.782030 0.800000 0 0.540000 1.000000 PSG4 5672 broad.mit.edu 37 19 43702149 43702149 + Splice_Site SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr19:43702149G>A ENST00000405312.3 - 3 946 c.709C>T c.(709-711)Cca>Tca p.P237S PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 p.P237T(1)|p.H237N(1) 24 Prostate(69;0.00682) GGATACTCACGGAGGAGATTC 0.527000 2 Substitution - Missense(2) SO:0001630 splice_region_variant ENST00000405312.3 0 1 hg19 CCDS46093.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 4.459|4.459 0.085043|0.085043 0.08583|0.08583 .|. .|. ENSG00000243137|ENSG00000243137 ENST00000244295|ENST00000405312 T|T 0.34667|0.59772 1.35|0.24 1.96|1.96 -0.726|-0.726 0.11170|0.11170 .|Immunoglobulin-like (1); .|. .|. .|. .|. T|T 0.44973|0.44973 0.1319|0.1319 L|L 0.49126|0.49126 1.545|1.545 0.09310|0.09310 N|N 1|1 B|B 0.06786|0.18310 0.001|0.027 B|B 0.08055|0.19946 0.003|0.027 T|T 0.32188|0.32188 -0.9916|-0.9916 9|9 0.02654|0.31617 T|T 1|0.26 .|. 4.4957|4.4957 0.11835|0.11835 0.6207:0.0:0.3793:0.0|0.6207:0.0:0.3793:0.0 .|. 237|237 Q00888-2|Q00888 .|PSG4_HUMAN Y|S 237|237 ENSP00000244295:H237Y|ENSP00000384770:P237S ENSP00000244295:H237Y|ENSP00000384770:P237S H|P -|- 1|1 0|0 PSG4|PSG4 48393989|48393989 0.003000|0.003000 0.15002|0.15002 0.008000|0.008000 0.14137|0.14137 0.006000|0.006000 0.05464|0.05464 -1.087000|-1.087000 0.03383|0.03383 -0.365000|-0.365000 0.08076|0.08076 -1.218000|-1.218000 0.01608|0.01608 CAT|CCA TCGA-HV-A5A5-01A-11D-A26I-08 PSG4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323073.1 0 0 0 84 1125 0 250 0 4.972261e-03 0 2 0 250 2 0 0 0 0 0 2 1 1.000000 44 484 0 364 2 -3.142702 1 1 119230 4 39 1 1 2 3 2.094941 0 0.130000 1.930000 0.152047 0.990000 0.890000 1.000000 1.000000 0.991620 0.990000 1 0.990000 1.000000 NOTCH2 4853 broad.mit.edu 37 1 120458964 120458964 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr1:120458964C>G ENST00000256646.2 - 34 6600 c.6381G>C c.(6379-6381)aaG>aaC p.K2127N NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) TCCTACTACCCTTGGCATCCT 0.507000 N, F, Mis marginal zone lymphoma, DLBCL Alagille Syndrome Dom yes 1 1p13-p11 4853 Notch homolog 2 L 0 SO:0001583 missense Familial Cancer Database ALGS1, ALGS2.Alagille-Watson syndrome ENST00000256646.2 0 1 hg19 CCDS908.1 . . . . . . . . . . C 11.90 1.777249 0.31411 . . ENSG00000134250 ENST00000256646 D 0.83250 -1.7 5.5 4.59 0.56863 . 0.000000 0.39615 U 0.001310 T 0.69557 0.3124 M 0.61703 1.905 0.44012 D 0.996729 B 0.14438 0.01 B 0.10450 0.005 T 0.70934 -0.4737 10 0.51188 T 0.08 . 9.6325 0.39787 0.0:0.8419:0.0:0.1581 . 2127 Q04721 NOTC2_HUMAN N 2127 ENSP00000256646:K2127N ENSP00000256646:K2127N K - 3 2 NOTCH2 120260487 0.996000 0.38824 1.000000 0.80357 0.791000 0.44710 0.961000 0.29267 1.320000 0.45209 0.561000 0.74099 AAG TCGA-HV-A5A5-01A-11D-A26I-08 NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033679.1 0 0 0 8 576 0 61 1 3.937036e-01 4 86 0 61 2 0 0 0 0 0 2 1 0.988834 8 568 0 61 2 -1.867313 0 1 121412 1 34 1 1 10 11 3.169964 1 0.130000 1.930000 0.451104 0.350000 0.140000 0.640000 0.340000 0.373812 0.350000 0 0.230000 0.500000 CRKL 1399 broad.mit.edu 37 22 21272254 21272254 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr22:21272254G>A ENST00000354336.3 + 1 541 c.32G>A c.(31-33)cGc>cAc p.R11H NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) TCCTCGGACCGCTCCGCCTGG 0.692000 Pancreas(85;3 1441 23889 42519 42763) 0 SO:0001583 missense ENST00000354336.3 0 1 hg19 CCDS13785.1 . . . . . . . . . . G 36 5.711248 0.96821 . . ENSG00000099942 ENST00000354336 T 0.69806 -0.43 5.27 5.27 0.74061 SH2 motif (1); 0.000000 0.85682 D 0.000000 T 0.76666 0.4019 L 0.46885 1.475 0.80722 D 1 D 0.61697 0.99 D 0.69307 0.963 T 0.77579 -0.2535 10 0.59425 D 0.04 . 16.742 0.85462 0.0:0.0:1.0:0.0 . 11 P46109 CRKL_HUMAN H 11 ENSP00000346300:R11H ENSP00000346300:R11H R + 2 0 CRKL 19602254 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.444000 0.80532 2.627000 0.88993 0.650000 0.86243 CGC TCGA-HV-A5A5-01A-11D-A26I-08 CRKL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320158.1 0 0 0 4 158 0 26 0 1.717032e-01 0 24 0 26 2 0 0 0 0 0 2 1 0.886926 4 155 0 26 2 -6.110456 1 1 121404 1 30 1 0 1 1 1.923762 0 0.130000 1.930000 0.092852 0.390000 0.130000 0.810000 0.340000 0.422157 0.390000 0 0.230000 0.590000 LRRTM4 80059 broad.mit.edu 37 2 77746270 77746270 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr2:77746270C>T ENST00000409093.1 - 3 1061 c.725G>A c.(724-726)cGc>cAc p.R242H LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R242H Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 p.R242H(2) 64 GCTAATGGAGCGAATCCTGTT 0.448000 2 Substitution - Missense(2) SO:0001583 missense ENST00000409093.1 0 1 hg19 CCDS46346.1 . . . . . . . . . . C 15.50 2.853202 0.51270 . . ENSG00000176204 ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282 T;T;T;T;T 0.59224 0.28;0.28;0.28;0.28;0.28 5.93 5.93 0.95920 . 0.133674 0.50627 D 0.000114 T 0.66036 0.2749 N 0.25031 0.7 0.44570 D 0.997532 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.74348 0.97;0.949;0.983 T 0.68112 -0.5495 10 0.62326 D 0.03 . 18.9104 0.92481 0.0:1.0:0.0:0.0 . 243;242;242 Q4KMX1;Q86VH4-2;Q86VH4 .;.;LRRT4_HUMAN H 243;242;242;242;243 ENSP00000387228:R243H;ENSP00000387297:R242H;ENSP00000386357:R242H;ENSP00000386236:R242H;ENSP00000386286:R243H ENSP00000386236:R242H R - 2 0 LRRTM4 77599778 0.966000 0.33281 1.000000 0.80357 0.997000 0.91878 1.999000 0.40806 2.798000 0.96311 0.655000 0.94253 CGC TCGA-HV-A5A5-01A-11D-A26I-08 LRRTM4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000328225.1 1 0 1 11 91 0 23 0 0 0 1 0 23 2 0 0 0 0 0 2 1 0.998645 11 91 0 23 2 -17.516960 1 1 0 0 1 0 0 0 1.969198 0 0.130000 1.930000 0.107967 0.990000 0.790000 1.000000 1.000000 0.985182 0.990000 1 0.990000 1.000000 WNT7A 7476 broad.mit.edu 37 3 13860786 13860786 + Silent SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:13860786G>A ENST00000285018.4 - 4 1009 c.705C>T c.(703-705)gcC>gcT p.A235A NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 24 CCACGTGAACGGCCTCGTTGT 0.622000 0 SO:0001819 synonymous_variant ENST00000285018.4 1 1 hg19 CCDS2616.1 TCGA-HV-A5A5-01A-11D-A26I-08 WNT7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252031.2 0 0 0 17 444 0 77 0 7.909401e-02 0 12 0 77 2 0 0 0 0 0 2 1 0.999965 17 441 0 76 2 -3.208233 1 1 121412 6 36 1 0 0 0 1.987976 0 0.130000 1.930000 0.116213 0.560000 0.340000 0.840000 0.550000 0.578882 0.560000 0 0.440000 0.710000 HRASLS 57110 broad.mit.edu 37 3 192988436 192988436 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr3:192988436T>A ENST00000602513.1 + 4 858 c.449T>A c.(448-450)gTt>gAt p.V150D HRASLS_ENST00000264735.2_Missense_Mutation_p.V255D Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) ACAGCTGCTGTTGGTGTCTTC 0.378000 0 SO:0001583 missense ENST00000602513.1 1 1 hg19 . . . . . . . . . . T 15.20 2.763169 0.49574 . . ENSG00000127252 ENST00000264735 . . . 5.64 2.63 0.31362 . 0.234074 0.43416 D 0.000571 T 0.24967 0.0606 N 0.14661 0.345 0.42689 D 0.99357 P 0.43169 0.8 B 0.32289 0.143 T 0.05801 -1.0863 9 0.54805 T 0.06 -6.1788 10.6667 0.45734 0.0:0.8466:0.0:0.1534 . 150 Q9HDD0 HRSL1_HUMAN D 150 . ENSP00000264735:V150D V + 2 0 HRASLS 194471130 0.958000 0.32768 0.982000 0.44146 0.968000 0.65278 2.072000 0.41510 0.359000 0.24239 -0.263000 0.10527 GTT TCGA-HV-A5A5-01A-11D-A26I-08 HRASLS-201 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 13 382 0 43 0 1.329063e-03 0 2 0 43 2 0 0 0 0 0 2 1 0.999487 13 374 0 42 2 -13.017070 1 1 0 0 1 0 0 0 1.988754 0 0.130000 1.930000 0.117379 0.500000 0.280000 0.800000 0.490000 0.524492 0.500000 0 0.380000 0.650000 ANK2 287 broad.mit.edu 37 4 114277476 114277476 + Missense_Mutation SNP T T G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:114277476T>G ENST00000357077.4 + 38 7755 c.7702T>G c.(7702-7704)Tgt>Ggt p.C2568G ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) GATTCATGAATGTGCAGAGGA 0.433000 0 SO:0001583 missense ENST00000357077.4 1 1 hg19 CCDS3702.1 . . . . . . . . . . T 17.40 3.379860 0.61845 . . ENSG00000145362 ENST00000357077;ENST00000264366 T;T 0.66815 -0.22;-0.23 5.81 5.81 0.92471 . 0.222920 0.31542 N 0.007467 T 0.69061 0.3069 L 0.60455 1.87 0.80722 D 1 B;P 0.50272 0.001;0.933 B;P 0.49829 0.002;0.623 T 0.69774 -0.5054 9 . . . . 11.6148 0.51083 0.0:0.0:0.2662:0.7338 . 2535;2568 Q01484;Q01484-4 ANK2_HUMAN;. G 2568;2535 ENSP00000349588:C2568G;ENSP00000264366:C2535G . C + 1 0 ANK2 114496925 1.000000 0.71417 0.975000 0.42487 0.993000 0.82548 4.953000 0.63624 2.216000 0.71823 0.533000 0.62120 TGT TCGA-HV-A5A5-01A-11D-A26I-08 ANK2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256422.2 1 0 0 53 576 0 82 0 0 0 0 82 2 0 0 0 0 0 2 1 1.000000 53 569 0 81 2 -20.000000 1 1 0 0 1 0 0 0 1.984973 0 0.130000 1.930000 0.115044 0.990000 0.960000 1.000000 1.000000 0.997839 0.990000 1 0.990000 1.000000 ANKRD50 57182 broad.mit.edu 37 4 125592599 125592599 + Silent SNP A A G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:125592599A>G ENST00000504087.1 - 4 2870 c.1833T>C c.(1831-1833)ggT>ggC p.G611G ANKRD50_ENST00000515641.1_Silent_p.G432G NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 55 ATGCTGTCCAACCATCTTGAT 0.453000 0 SO:0001819 synonymous_variant ENST00000504087.1 1 1 hg19 CCDS34060.1 TCGA-HV-A5A5-01A-11D-A26I-08 ANKRD50-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364775.1 0 0 0 19 492 0 84 0 1.292811e-01 0 16 0 84 2 0 0 0 0 0 2 1 0.999990 19 485 0 84 2 -18.046860 1 1 0 0 1 0 0 0 1.984973 0 0.130000 1.930000 0.115044 0.560000 0.350000 0.830000 0.560000 0.580667 0.560000 0 0.440000 0.700000 CDKN2AIP 55602 broad.mit.edu 37 4 184368445 184368445 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr4:184368445C>T ENST00000504169.1 + 3 1815 c.1608C>T c.(1606-1608)ctC>ctT p.L536L CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) AGTTATTTCTCAAGAAAAAGG 0.383000 0 SO:0001819 synonymous_variant ENST00000504169.1 1 1 hg19 CCDS34110.1 TCGA-HV-A5A5-01A-11D-A26I-08 CDKN2AIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361488.1 1 0 1 33 442 0 62 1 9.178054e-01 13 46 0 62 2 0 0 0 0 0 2 1 1.000000 33 441 0 62 2 -3.075755 1 1 0 0 1 0 0 0 1.984973 0 0.130000 1.930000 0.115044 0.990000 0.730000 1.000000 1.000000 0.957813 0.990000 1 0.880000 1.000000 CDH10 1008 broad.mit.edu 37 5 24505322 24505322 + Missense_Mutation SNP A A G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr5:24505322A>G ENST00000264463.4 - 8 1799 c.1292T>C c.(1291-1293)aTc>aCc p.I431T NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 185 AATGTTAAAGATTCTGTCAAG 0.368000 HNSCC(23;0.051) 0 SO:0001583 missense ENST00000264463.4 1 1 hg19 CCDS3892.1 . . . . . . . . . . A 16.20 3.056941 0.55325 . . ENSG00000040731 ENST00000264463 T 0.50548 0.74 5.57 5.57 0.84162 Cadherin (4);Cadherin-like (1); 0.053511 0.64402 D 0.000001 T 0.46210 0.1381 L 0.49640 1.575 0.46241 D 0.998949 B 0.21606 0.058 B 0.26202 0.067 T 0.41070 -0.9529 10 0.52906 T 0.07 . 14.9114 0.70761 1.0:0.0:0.0:0.0 . 431 Q9Y6N8 CAD10_HUMAN T 431 ENSP00000264463:I431T ENSP00000264463:I431T I - 2 0 CDH10 24541079 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.096000 0.76960 2.102000 0.63906 0.533000 0.62120 ATC TCGA-HV-A5A5-01A-11D-A26I-08 CDH10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207345.2 1 0 0 16 249 0 40 0 0 0 1 0 40 2 0 0 0 0 0 2 1 0.999939 16 248 0 40 2 -19.534750 1 1 0 0 1 1 2 3 2.041932 0 0.130000 1.930000 0.141165 0.990000 0.580000 1.000000 1.000000 0.909359 0.990000 1 0.760000 1.000000 TCP10 6953 broad.mit.edu 37 6 167789546 167789546 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:167789546C>T ENST00000397829.4 - 6 763 c.596G>A c.(595-597)cGa>cAa p.R199Q TCP10_ENST00000366827.2_Missense_Mutation_p.R199Q NM_004610.3 NP_004601.3 Q12799 TCP10_HUMAN t-complex 10 18 Breast(66;1.53e-05)|Ovarian(120;0.024) TTGCGGACTTCGGGAAGATGG 0.612000 0 SO:0001583 missense ENST00000397829.4 0 1 hg19 CCDS43527.1 . . . . . . . . . . C 10.68 1.417194 0.25552 . . ENSG00000203690 ENST00000366827;ENST00000397829 T;T 0.12361 2.69;2.69 1.65 -1.26 0.09376 . . . . . T 0.05914 0.0154 N 0.14661 0.345 0.09310 N 1 D;B 0.64830 0.994;0.185 P;B 0.62382 0.901;0.006 T 0.17623 -1.0363 9 0.72032 D 0.01 . 4.5266 0.11985 0.0:0.4475:0.0:0.5525 . 226;226 Q12799;Q12799-2 TCP10_HUMAN;. Q 199 ENSP00000355792:R199Q;ENSP00000380929:R199Q ENSP00000355792:R199Q R - 2 0 TCP10 167709536 0.000000 0.05858 0.000000 0.03702 0.086000 0.17979 -2.900000 0.00704 -0.317000 0.08677 0.306000 0.20318 CGA TCGA-HV-A5A5-01A-11D-A26I-08 TCP10-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000365570.1 0 0 0 4 162 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 0.885531 4 158 0 34 2 -5.888731 1 0 120942 12 37 1 0 0 0 1.966951 0 0.130000 1.930000 0.106776 0.390000 0.130000 0.810000 0.340000 0.422908 0.390000 0 0.230000 0.590000 GPLD1 2822 broad.mit.edu 37 6 24450108 24450108 + Missense_Mutation SNP G G A rs149093201 TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:24450108G>A ENST00000230036.1 - 15 1465 c.1355C>T c.(1354-1356)tCg>tTg p.S452L NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 32 AGCCAAGGCCGAGCCAAACCG 0.622000 0 SO:0001583 missense ENST00000230036.1 1 1 hg19 CCDS4553.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 20.6 4.024960 0.75390 0.0 2.33E-4 ENSG00000112293 ENST00000230036 T 0.69561 -0.41 5.11 5.11 0.69529 . 0.000000 0.64402 D 0.000017 T 0.73946 0.3652 M 0.69463 2.115 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.69439 -0.5145 10 0.18276 T 0.48 -12.1527 18.1339 0.89610 0.0:0.0:1.0:0.0 . 452 P80108 PHLD_HUMAN L 452 ENSP00000230036:S452L ENSP00000230036:S452L S - 2 0 GPLD1 24558087 1.000000 0.71417 0.934000 0.37439 0.948000 0.59901 6.383000 0.73172 2.368000 0.80403 0.591000 0.81541 TCG TCGA-HV-A5A5-01A-11D-A26I-08 GPLD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043315.1 1 0 1 46 310 0 74 0 0 0 1 0 74 2 0 0 0 0 0 2 1 1.000000 45 310 0 74 2 -3.075738 1 1 121408 63 50 1 0 0 0 1.965585 0 0.130000 1.930000 0.106776 0.990000 0.990000 1.000000 1.000000 0.999996 0.990000 1 0.990000 1.000000 KLHL32 114792 broad.mit.edu 37 6 97424015 97424015 + Missense_Mutation SNP C C A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr6:97424015C>A ENST00000369261.4 + 3 529 c.166C>A c.(166-168)Cac>Aac p.H56N KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) ATTCCATGCTCACAAGGCAGT 0.463000 0 SO:0001583 missense ENST00000369261.4 1 1 hg19 CCDS5038.1 . . . . . . . . . . C 23.8 4.464888 0.84425 . . ENSG00000186231 ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254 T;T;T;T 0.79141 -1.24;1.22;1.22;-1.24 5.14 5.14 0.70334 BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2); 0.000000 0.85682 D 0.000000 D 0.89574 0.6754 M 0.89785 3.06 0.80722 D 1 D;P;D;D 0.89917 1.0;0.936;1.0;0.999 D;P;D;D 0.97110 0.999;0.885;1.0;0.995 D 0.91142 0.4946 10 0.87932 D 0 . 18.7846 0.91949 0.0:1.0:0.0:0.0 . 56;56;56;56 B7Z4E2;B7Z346;Q96NJ5;Q6IQ08 .;.;KLH32_HUMAN;. N 56 ENSP00000358265:H56N;ENSP00000440382:H56N;ENSP00000441527:H56N;ENSP00000358258:H56N ENSP00000358258:H56N H + 1 0 KLHL32 97530736 1.000000 0.71417 1.000000 0.80357 0.879000 0.50718 7.320000 0.79064 2.674000 0.91012 0.591000 0.81541 CAC TCGA-HV-A5A5-01A-11D-A26I-08 KLHL32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041570.1 1 0 0 20 239 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.999996 20 238 0 64 2 -2.716743 1 1 0 0 1 0 0 0 1.966951 0 0.130000 1.930000 0.106776 0.990000 0.720000 1.000000 1.000000 0.967096 0.990000 1 0.910000 1.000000 IMPDH1 3614 broad.mit.edu 37 7 128035057 128035057 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:128035057G>A ENST00000480861.1 - 11 1243 c.1166C>T c.(1165-1167)aCg>aTg p.T389M IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000338791.6_Missense_Mutation_p.T479M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M NM_001142574.1 NP_001136046.1 IMP (inosine 5'-monophosphate) dehydrogenase 1 22 AGGGGCCTCCGTAGTGGCGGC 0.642000 0 SO:0001583 missense ENST00000480861.1 1 1 hg19 CCDS55161.1 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 G 19.24 3.788614 0.70337 . . ENSG00000106348 ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861 T;T;T;T;T;T;T;T;T 0.79247 -1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25 4.62 4.62 0.57501 Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1); 0.000000 0.85682 D 0.000000 D 0.82641 0.5081 M 0.72894 2.215 0.80722 D 1 D;D;D;D;D;D;D;D 0.89917 1.0;0.996;0.998;0.999;0.999;0.996;0.997;0.994 D;D;D;D;D;P;P;P 0.70016 0.967;0.935;0.92;0.955;0.955;0.823;0.889;0.893 D 0.86285 0.1670 10 0.87932 D 0 -11.3859 15.0316 0.71710 0.0:0.0:1.0:0.0 . 446;389;394;410;469;443;479;369 C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2 .;.;IMDH1_HUMAN;.;.;.;.;. M 446;479;369;469;410;443;369;393;389 ENSP00000399400:T446M;ENSP00000345096:T479M;ENSP00000420803:T369M;ENSP00000346219:T469M;ENSP00000367989:T410M;ENSP00000265385:T443M;ENSP00000342438:T369M;ENSP00000417296:T393M;ENSP00000420185:T389M ENSP00000345096:T479M T - 2 0 IMPDH1 127822293 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 9.218000 0.95166 2.409000 0.81822 0.561000 0.74099 ACG TCGA-HV-A5A5-01A-11D-A26I-08 IMPDH1-009 PUTATIVE basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000349462.1 1 0 1 28 472 0 90 1 9.440390e-01 10 73 0 90 2 0 0 0 0 0 2 1 1.000000 28 466 0 90 2 -6.281820 1 1 121412 9 41 1 1 2 3 2.046447 0 0.130000 1.930000 0.142266 0.910000 0.600000 1.000000 1.000000 0.887264 0.910000 1 0.740000 1.000000 CDK6 1021 broad.mit.edu 37 7 92462588 92462588 + Missense_Mutation SNP G G T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:92462588G>T ENST00000265734.4 - 2 461 c.50C>A c.(49-51)gCg>gAg p.A17E CDK6_ENST00000424848.2_Missense_Mutation_p.A17E|CDK6_ENST00000491250.1_5'Flank NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCCGATCTCCGCCACGCATTC 0.721000 T MLLT10 ALL Dom yes 7 7q21-q22 1021 cyclin-dependent kinase 6 L 0 SO:0001583 missense ENST00000265734.4 0 1 hg19 CCDS5628.1 . . . . . . . . . . G 15.15 2.748628 0.49257 . . ENSG00000105810 ENST00000265734;ENST00000424848 T;T 0.39056 1.1;1.1 5.5 5.5 0.81552 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.33527 0.0866 N 0.01219 -0.95 0.80722 D 1 D 0.89917 1.0 D 0.79108 0.992 T 0.36237 -0.9756 10 0.02654 T 1 -2.5446 19.3835 0.94546 0.0:0.0:1.0:0.0 . 17 Q00534 CDK6_HUMAN E 17 ENSP00000265734:A17E;ENSP00000397087:A17E ENSP00000265734:A17E A - 2 0 CDK6 92300524 1.000000 0.71417 1.000000 0.80357 0.916000 0.54674 9.695000 0.98691 2.586000 0.87340 0.557000 0.71058 GCG TCGA-HV-A5A5-01A-11D-A26I-08 CDK6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254605.2 0 0 0 5 61 0 18 0 2.480818e-02 0 3 0 18 2 0 0 0 0 0 2 1 0.940062 5 61 0 17 2 -9.778956 1 1 0 0 1 1 2 3 2.046447 0 0.130000 1.930000 0.142266 0.990000 0.490000 1.000000 1.000000 0.933182 0.990000 1 0.810000 1.000000 CDK6 1021 broad.mit.edu 37 7 92462589 92462589 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr7:92462589C>T ENST00000265734.4 - 2 460 c.49G>A c.(49-51)Gcg>Acg p.A17T CDK6_ENST00000424848.2_Missense_Mutation_p.A17T|CDK6_ENST00000491250.1_5'Flank NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCGATCTCCGCCACGCATTCG 0.721000 T MLLT10 ALL Dom yes 7 7q21-q22 1021 cyclin-dependent kinase 6 L 0 SO:0001583 missense ENST00000265734.4 0 1 hg19 CCDS5628.1 . . . . . . . . . . C 32 5.133124 0.94517 . . ENSG00000105810 ENST00000265734;ENST00000424848 T;T 0.43294 0.95;0.95 5.5 5.5 0.81552 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.45994 0.1370 N 0.21373 0.66 0.80722 D 1 D 0.60575 0.988 P 0.53490 0.727 T 0.49476 -0.8936 10 0.87932 D 0 -2.5446 19.3835 0.94546 0.0:1.0:0.0:0.0 . 17 Q00534 CDK6_HUMAN T 17 ENSP00000265734:A17T;ENSP00000397087:A17T ENSP00000265734:A17T A - 1 0 CDK6 92300525 1.000000 0.71417 1.000000 0.80357 0.919000 0.55068 7.686000 0.84128 2.586000 0.87340 0.557000 0.71058 GCG TCGA-HV-A5A5-01A-11D-A26I-08 CDK6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254605.2 0 0 0 5 60 0 18 0 2.551819e-02 0 3 0 18 2 0 0 0 0 0 2 1 0.940103 5 60 0 17 2 -10.160710 1 1 0 0 1 1 2 3 2.046447 0 0.130000 1.930000 0.142266 0.990000 0.500000 1.000000 1.000000 0.935920 0.990000 1 0.830000 1.000000 KIF24 347240 broad.mit.edu 37 9 34311094 34311094 + Missense_Mutation SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:34311094C>T ENST00000402558.2 - 1 275 c.251G>A c.(250-252)cGc>cAc p.R84H KIF24_ENST00000345050.2_Missense_Mutation_p.R84H|KIF24_ENST00000379166.2_Missense_Mutation_p.R84H|KIF24_ENST00000379174.3_Missense_Mutation_p.R84H Q5T7B8 KIF24_HUMAN kinesin family member 24 32 LUSC - Lung squamous cell carcinoma(29;0.0107) AGATTTGATGCGCAGGCTGCT 0.418000 0 SO:0001583 missense ENST00000402558.2 0 1 hg19 CCDS6551.2 . . . . . . . . . . C 0.004 -2.298945 0.00243 . . ENSG00000186638 ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188 T;T;T;T 0.17054 2.3;2.3;2.3;2.3 5.33 -3.11 0.05299 . 1.777690 0.03267 N 0.184207 T 0.06142 0.0159 N 0.03608 -0.345 0.09310 N 1 B;B 0.26258 0.145;0.054 B;B 0.14023 0.01;0.004 T 0.24225 -1.0166 10 0.15952 T 0.53 . 4.7677 0.13141 0.1156:0.463:0.1071:0.3143 . 84;84 Q5T7B8-4;Q5T7B8 .;KIF24_HUMAN H 84 ENSP00000384433:R84H;ENSP00000368472:R84H;ENSP00000368464:R84H;ENSP00000340179:R84H ENSP00000340179:R84H R - 2 0 KIF24 34301094 0.000000 0.05858 0.000000 0.03702 0.056000 0.15407 -0.077000 0.11394 -0.464000 0.06963 -0.312000 0.09012 CGC TCGA-HV-A5A5-01A-11D-A26I-08 KIF24-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052150.5 1 0 0 14 155 0 16 0 0 0 1 0 16 2 0 0 0 0 0 2 1 0.999796 14 155 0 16 2 -6.697247 1 1 120860 10 41 1 1 2 3 2.031232 0 0.130000 1.930000 0.138955 0.990000 0.760000 1.000000 1.000000 0.980917 0.990000 1 0.990000 1.000000 DOCK8 81704 broad.mit.edu 37 9 428461 428461 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chr9:428461C>G ENST00000453981.1 + 35 4550 c.4438C>G c.(4438-4440)Cac>Gac p.H1480D DOCK8_ENST00000432829.2_Missense_Mutation_p.H1412D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) CTACCTGACTCACTGCTTTGC 0.483000 0 SO:0001583 missense ENST00000453981.1 1 1 hg19 CCDS6440.2 . . . . . . . . . . C 32 5.175582 0.94807 . . ENSG00000107099 ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329 T;T;T;T 0.61980 0.06;0.06;0.06;0.06 5.65 5.65 0.86999 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.81880 0.4916 M 0.89904 3.07 0.80722 D 1 D;D;D 0.58970 0.984;0.984;0.967 P;P;P 0.59221 0.805;0.854;0.808 D 0.85234 0.1034 10 0.72032 D 0.01 . 19.713 0.96103 0.0:1.0:0.0:0.0 . 1380;947;1480 E9PH09;A2A369;Q8NF50 .;.;DOCK8_HUMAN D 1480;1448;1412;1380;947 ENSP00000408464:H1480D;ENSP00000394888:H1412D;ENSP00000419438:H1380D;ENSP00000371766:H947D ENSP00000287364:H1448D H + 1 0 DOCK8 418461 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.696000 0.84270 2.648000 0.89879 0.650000 0.86243 CAC TCGA-HV-A5A5-01A-11D-A26I-08 DOCK8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000171792.5 1 0 0 12 181 0 35 0 4.287952e-01 0 21 0 35 2 0 0 0 0 0 2 1 0.999183 12 180 0 35 2 -2.967499 1 1 0 0 1 1 2 3 2.031232 0 0.130000 1.930000 0.138955 0.990000 0.550000 1.000000 1.000000 0.908943 0.990000 1 0.750000 1.000000 PHKA2 5256 broad.mit.edu 37 X 18956750 18956750 + Missense_Mutation SNP C C G TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:18956750C>G ENST00000379942.4 - 10 1701 c.1036G>C c.(1036-1038)Gtt>Ctt p.V346L NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 61 Hepatocellular(33;0.183) CTCACCTGAACAGCATCACCA 0.368000 0 SO:0001583 missense ENST00000379942.4 1 1 hg19 CCDS14190.1 . . . . . . . . . . c 13.19 2.163684 0.38217 . . ENSG00000044446 ENST00000379942 D 0.92805 -3.11 4.53 3.65 0.41850 Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1); 0.184470 0.46145 N 0.000306 D 0.85457 0.5701 L 0.38175 1.15 0.38841 D 0.956057 B 0.02656 0.0 B 0.08055 0.003 T 0.78961 -0.1997 10 0.41790 T 0.15 -9.3948 6.1366 0.20237 0.0:0.6738:0.1786:0.1476 . 346 P46019 KPB2_HUMAN L 346 ENSP00000369274:V346L ENSP00000369274:V346L V - 1 0 PHKA2 18866671 0.974000 0.33945 0.709000 0.30452 0.843000 0.47879 3.060000 0.49955 0.809000 0.34255 0.597000 0.82753 GTT TCGA-HV-A5A5-01A-11D-A26I-08 PHKA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055960.1 1 0 0 36 392 0 47 0 3.415070e-01 0 14 0 47 2 0 0 0 0 0 2 1 1.000000 36 387 0 47 2 -20.000000 1 1 0 0 1 0 1 1 0.130000 1.930000 0.130000 0.990000 0.920000 1.000000 1.000000 0.995721 0.990000 1 0.990000 1.000000 MAP3K15 389840 broad.mit.edu 37 X 19392682 19392682 + Missense_Mutation SNP G G A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:19392682G>A ENST00000338883.4 - 20 2685 c.2686C>T c.(2686-2688)Cgt>Tgt p.R896C MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|Y_RNA_ENST00000365274.1_RNA|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 42 Hepatocellular(33;0.183) GTGGTGGCACGTTTGTGGGGG 0.537000 0 SO:0001583 missense ENST00000338883.4 1 1 hg19 . . . . . . . . . . G 18.20 3.570696 0.65765 . . ENSG00000180815 ENST00000338883;ENST00000359173;ENST00000469203 T;T;T 0.72051 -0.62;-0.62;-0.62 5.56 5.56 0.83823 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.92087 0.7492 H 0.99752 4.75 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.95672 0.8724 10 0.87932 D 0 . 18.8298 0.92133 0.0:0.0:1.0:0.0 . 371;896 Q6ZN16-3;Q6ZN16 .;M3K15_HUMAN C 896;331;728 ENSP00000345629:R896C;ENSP00000352093:R331C;ENSP00000428356:R728C ENSP00000345629:R896C R - 1 0 MAP3K15 19302603 1.000000 0.71417 0.238000 0.24106 0.532000 0.34746 4.772000 0.62324 2.479000 0.83701 0.600000 0.82982 CGT TCGA-HV-A5A5-01A-11D-A26I-08 MAP3K15-201 KNOWN basic|appris_principal protein_coding protein_coding 1 0 0 26 355 0 75 0 5.113636e-03 0 2 0 75 2 0 0 0 0 0 2 1 1.000000 26 350 0 75 2 -20.000000 1 1 121410 1 35 1 0 1 1 0.130000 1.930000 0.130000 0.990000 0.700000 1.000000 1.000000 0.951523 0.990000 1 0.860000 1.000000 GPR174 84636 broad.mit.edu 37 X 78426854 78426854 + Missense_Mutation SNP T T A TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:78426854T>A ENST00000276077.1 + 1 386 c.350T>A c.(349-351)tTt>tAt p.F117Y NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 38 GTGCGACGATTTTGGTTTCTC 0.468000 HNSCC(63;0.18) 0 SO:0001583 missense ENST00000276077.1 1 1 hg19 CCDS14443.1 . . . . . . . . . . t 5.465 0.270931 0.10349 . . ENSG00000147138 ENST00000276077 T 0.41065 1.01 5.13 5.13 0.70059 GPCR, rhodopsin-like superfamily (1); 0.056736 0.64402 D 0.000001 T 0.22126 0.0533 N 0.16567 0.415 0.33746 D 0.620086 B 0.09022 0.002 B 0.18871 0.023 T 0.23833 -1.0177 10 0.02654 T 1 . 8.9269 0.35646 0.1684:0.0:0.0:0.8315 . 117 Q9BXC1 GP174_HUMAN Y 117 ENSP00000276077:F117Y ENSP00000276077:F117Y F + 2 0 GPR174 78313510 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 3.473000 0.53122 1.697000 0.51169 0.433000 0.28618 TTT TCGA-HV-A5A5-01A-11D-A26I-08 GPR174-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057327.1 1 0 0 60 714 0 112 0 0 0 1 0 112 2 0 0 0 0 0 2 1 1.000000 59 709 0 112 2 -20.000000 1 1 0 0 1 0 1 1 0.130000 1.930000 0.130000 0.990000 0.920000 1.000000 1.000000 0.995207 0.990000 1 0.990000 1.000000 POF1B 79983 broad.mit.edu 37 X 84560887 84560887 + Silent SNP C C T TCGA-HV-A5A5-01A-11D-A26I-08 TCGA-HV-A5A5-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab 42147311-f42e-4455-ad47-13f586fdca52 g.chrX:84560887C>T ENST00000262753.4 - 13 1492 c.1347G>A c.(1345-1347)ttG>ttA p.L449L POF1B_ENST00000373145.3_Silent_p.L449L NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 35 TTTTAGCCTGCAACATTGGGC 0.388000 0 SO:0001819 synonymous_variant ENST00000262753.4 1 1 hg19 CCDS14452.1 TCGA-HV-A5A5-01A-11D-A26I-08 POF1B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000057391.2 1 0 0 27 417 0 55 1 3.359192e-01 5 14 0 55 2 0 0 0 0 0 2 1 1.000000 27 411 0 55 2 -6.759467 1 1 0 0 1 0 1 1 0.130000 1.930000 0.130000 0.930000 0.630000 1.000000 1.000000 0.902860 0.930000 1 0.770000 1.000000