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 PAOX 196743 broad.mit.edu 37 10 135193525 135193525 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:135193525G>A ENST00000278060.5 + 2 287 c.204G>A c.(202-204)gcG>gcA p.A68A PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.A68A|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Silent_p.A68A NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) AGGTGGGCGCGCACTGGATCC 0.677000 0 SO:0001819 synonymous_variant ENST00000278060.5 1 1 hg19 CCDS7683.1 . . . . . . . . . . G 11.06 1.528603 0.27299 . . ENSG00000148832 ENST00000539775 . . . 5.07 -10.1 0.00402 . 0.000000 0.85682 D 0.000000 T 0.47783 0.1464 . . . 0.80722 D 1 . . . . . . T 0.59553 -0.7433 6 0.87932 D 0 -19.4616 2.3134 0.04192 0.173:0.3174:0.3293:0.1803 . . . . T 37 . ENSP00000437742:A37T A + 1 0 PAOX 135043515 0.001000 0.12720 0.497000 0.27552 0.975000 0.68041 -2.122000 0.01321 -1.784000 0.01272 -0.253000 0.11424 GCA TCGA-Z5-AAPL-01A-12D-A40W-08 PAOX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051146.2 1 0 0 10 241 0 39 0 2.687242e-02 0 6 0 39 2 0 0 0 0 0 2 1 0.996924 10 239 0 38 2 -2.810109 1 1 0 0 1 1 2 3 2.008553 0 0.100000 2 0.107586 0.860000 0.430000 1.000000 1.000000 0.829197 0.860000 1 0.610000 1.000000 DNA2 1763 broad.mit.edu 37 10 70176584 70176584 + Missense_Mutation SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:70176584C>A ENST00000358410.3 - 20 3046 c.2996G>T c.(2995-2997)cGt>cTt p.R999L DNA2_ENST00000399180.2_Missense_Mutation_p.R1085L|DNA2_ENST00000399179.2_Missense_Mutation_p.R761L NM_001080449.2 NP_001073918.2 P51530 DNA2_HUMAN DNA replication helicase/nuclease 2 20 AACATTAAGACGTCGCCAATC 0.368000 0 SO:0001583 missense ENST00000358410.3 0 1 hg19 . . . . . . . . . . C 31 5.101057 0.94245 . . ENSG00000138346 ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410 D;D;D 0.95853 -3.83;-3.83;-3.83 5.08 5.08 0.68730 . 0.115150 0.53938 D 0.000046 D 0.98425 0.9476 H 0.94620 3.56 0.37731 D 0.92528 D;D 0.89917 1.0;0.984 D;P 0.80764 0.994;0.877 D 0.99956 1.1623 10 0.87932 D 0 . 18.4906 0.90846 0.0:1.0:0.0:0.0 . 761;999 F8VR31;P51530 .;DNA2L_HUMAN L 761;1085;761;999 ENSP00000382133:R1085L;ENSP00000382132:R761L;ENSP00000351185:R999L ENSP00000351185:R999L R - 2 0 DNA2 69846590 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.320000 0.79064 2.356000 0.79943 0.655000 0.94253 CGT TCGA-Z5-AAPL-01A-12D-A40W-08 DNA2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000048334.2 0 0 0 4 242 0 51 0 1.430237e-03 0 3 0 51 2 0 0 0 0 0 2 1 0.885218 4 236 0 50 2 -5.407937 1 1 0 0 1 1 2 3 2.008553 0 0.100000 2 0.107586 0.390000 0.120000 1.000000 0.310000 0.473100 0.390000 0 0.230000 0.770000 KCNMA1 3778 broad.mit.edu 37 10 78787582 78787582 + Splice_Site SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr10:78787582G>A ENST00000286628.8 - 16 1926 c.1927C>T c.(1927-1929)Cgt>Tgt p.R643C KCNMA1_ENST00000406533.3_Splice_Site_p.R643C|KCNMA1_ENST00000404771.3_Splice_Site_p.R643C|KCNMA1_ENST00000372443.1_Splice_Site_p.R643C|KCNMA1_ENST00000404857.1_Splice_Site_p.R643C|KCNMA1_ENST00000372440.1_Splice_Site_p.R643C|KCNMA1_ENST00000354353.5_Splice_Site_p.R643C|KCNMA1_ENST00000286627.5_Splice_Site_p.R643C NM_001161352.1 NP_001154824.1 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721) CAAACTTACCGGCTCTCTCGG 0.483000 0 SO:0001630 splice_region_variant ENST00000286628.8 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.42|16.42 3.117764|3.117764 0.56505|0.56505 .|. .|. ENSG00000156113|ENSG00000156113 ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708 .|D;D;D;D;D;D;D;D;D .|0.84589 .|-1.86;-1.85;-1.85;-1.86;-1.86;-1.86;-1.79;-1.87;-1.87 5.32|5.32 5.32|5.32 0.75619|0.75619 .|. .|0.117057 .|0.64402 .|D .|0.000016 D|D 0.82806|0.82806 0.5117|0.5117 .|. .|. .|. 0.58432|0.58432 D|D 0.999997|0.999997 .|B;B;B;B;P;B;B .|0.52463 .|0.006;0.003;0.001;0.032;0.953;0.002;0.033 .|B;B;B;B;B;B;B .|0.43838 .|0.001;0.001;0.003;0.005;0.433;0.004;0.011 D|D 0.84716|0.84716 0.0737|0.0737 4|9 .|0.66056 .|D .|0.02 -5.4467|-5.4467 12.2533|12.2533 0.54610|0.54610 0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135 .|. .|643;643;643;643;643;425;643 .|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96 .|.;.;.;KCMA1_HUMAN;.;.;. L|C 631;321;135|643;580;578;617;580;643;643;617;643;643;643;425 .|ENSP00000361517:R643C;ENSP00000361485:R580C;ENSP00000361514:R578C;ENSP00000396608:R617C;ENSP00000361520:R643C;ENSP00000286627:R643C;ENSP00000385552:R643C;ENSP00000346321:R643C;ENSP00000385806:R643C .|ENSP00000286627:R643C P|R -|- 2|1 0|0 KCNMA1|KCNMA1 78457588|78457588 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.990000|0.990000 0.78478|0.78478 6.020000|6.020000 0.70826|0.70826 2.628000|2.628000 0.89032|0.89032 0.655000|0.655000 0.94253|0.94253 CCG|CGT TCGA-Z5-AAPL-01A-12D-A40W-08 KCNMA1-009 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000048885.3 0 0 0 11 404 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 0.998146 10 395 0 87 2 -2.588164 1 1 0 0 1 1 2 3 2.008553 0 0.100000 2 0.107586 0.580000 0.290000 1.000000 0.520000 0.625223 0.580000 0 0.410000 0.900000 NAP1L4 4676 broad.mit.edu 37 11 2975837 2975837 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr11:2975837T>C ENST00000380542.4 - 12 1095 c.955A>G c.(955-957)Att>Gtt p.I319V NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) AAGTGTCCAATTTCAAAATCA 0.448000 0 SO:0001583 missense ENST00000380542.4 0 1 hg19 CCDS41599.1 . . . . . . . . . . T 15.13 2.742296 0.49151 . . ENSG00000205531 ENST00000399624;ENST00000380542;ENST00000526115 T;T 0.28666 1.6;1.6 4.63 4.63 0.57726 . 0.055524 0.64402 D 0.000001 T 0.34077 0.0885 M 0.64404 1.975 0.53688 D 0.999972 B;B 0.26744 0.158;0.019 B;B 0.36244 0.22;0.03 T 0.14896 -1.0456 10 0.34782 T 0.22 -17.8508 9.5911 0.39545 0.0:0.0824:0.0:0.9176 . 319;319 F5HFY4;Q99733 .;NP1L4_HUMAN V 319 ENSP00000369915:I319V;ENSP00000436397:I319V ENSP00000369915:I319V I - 1 0 NAP1L4 2932413 1.000000 0.71417 0.967000 0.41034 0.884000 0.51177 5.617000 0.67716 1.936000 0.56123 0.528000 0.53228 ATT TCGA-Z5-AAPL-01A-12D-A40W-08 NAP1L4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030273.3 0 0 0 7 292 0 55 1 9.709519e-01 14 251 0 55 2 0 0 0 0 0 2 1 0.980472 7 290 0 55 2 -7.871812 1 1 0 0 1 1 2 3 2.011791 0 0.100000 2 0.108028 0.530000 0.220000 1.000000 0.460000 0.587000 0.530000 0 0.350000 0.930000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 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-Z5-AAPL-01A-12D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 5 213 0 60 0 3.838478e-02 1 10 0 60 2 1 9.900869e-01 6 386 0 327 2 1 0.937507 5 212 0 59 2 -3.509279 1 1 0 0 1 1 2 3 2.000035 0 0.100000 2 0.105812 0.520000 0.190000 1.000000 1.000000 0.573928 0.520000 0 0.320000 0.880000 CSRNP2 81566 broad.mit.edu 37 12 51461619 51461619 + Missense_Mutation SNP C C T rs148149139 TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:51461619C>T ENST00000228515.1 - 4 842 c.545G>A c.(544-546)cGg>cAg p.R182Q NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 14 GGCCCGTCGCCGTTTGGTGGG 0.537000 0 SO:0001583 missense ENST00000228515.1 1 1 hg19 CCDS8807.1 . . . . . . . . . . C 18.04 3.535451 0.64972 0.0 1.16E-4 ENSG00000110925 ENST00000228515 T 0.10860 2.83 4.94 4.94 0.65067 . 0.000000 0.85682 D 0.000000 T 0.15478 0.0373 N 0.05608 -0.01 0.58432 D 0.999996 D 0.89917 1.0 D 0.81914 0.995 T 0.38520 -0.9657 10 0.23302 T 0.38 -18.6725 17.4885 0.87696 0.0:1.0:0.0:0.0 . 182 Q9H175 CSRN2_HUMAN Q 182 ENSP00000228515:R182Q ENSP00000228515:R182Q R - 2 0 CSRNP2 49747886 0.171000 0.23029 1.000000 0.80357 0.995000 0.86356 0.943000 0.29030 2.758000 0.94735 0.561000 0.74099 CGG TCGA-Z5-AAPL-01A-12D-A40W-08 CSRNP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404893.1 0 0 0 11 435 0 60 0 8.576470e-02 1 17 0 60 2 0 0 0 0 0 2 1 0.998248 11 429 0 60 2 -2.978236 1 1 121412 2 37 1 1 2 3 2.000035 0 0.100000 2 0.105812 0.530000 0.270000 1.000000 0.480000 0.577806 0.530000 0 0.380000 0.780000 PTPRB 5787 broad.mit.edu 37 12 70964902 70964902 + Nonsense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr12:70964902G>A ENST00000261266.5 - 11 2649 c.2620C>T c.(2620-2622)Cga>Tga p.R874* PTPRB_ENST00000334414.6_Nonsense_Mutation_p.R1092*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784* NM_002837.4 NP_002828.3 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAAGTAAATCGATACTCGGTT 0.453000 0 SO:0001587 stop_gained ENST00000261266.5 0 1 hg19 CCDS44944.1 . . . . . . . . . . G 36 5.958065 0.97145 . . ENSG00000127329 ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122 . . . 5.9 3.02 0.34903 . 1.012530 0.07887 N 0.970442 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.11182 T 0.66 . 8.9582 0.35832 0.0691:0.0:0.4405:0.4904 . . . . X 1092;784;1004;874;784;874;1091;971 . ENSP00000261266:R874X R - 1 2 PTPRB 69251169 0.008000 0.16893 0.049000 0.19019 0.466000 0.32739 0.162000 0.16501 0.358000 0.24211 -0.188000 0.12872 CGA TCGA-Z5-AAPL-01A-12D-A40W-08 PTPRB-007 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000404439.1 0 0 0 5 185 0 51 0 1.239321e-01 0 19 0 51 2 0 0 0 0 0 2 1 0.934835 5 181 0 51 2 -6.841176 1 1 0 0 1 1 2 3 2.000035 0 0.100000 2 0.105812 0.600000 0.220000 1.000000 1.000000 0.634053 0.600000 0 0.370000 1.000000 FNDC3A 22862 broad.mit.edu 37 13 49781232 49781232 + Missense_Mutation SNP G G A rs142361918 byFrequency TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr13:49781232G>A ENST00000492622.2 + 26 3603 c.3298G>A c.(3298-3300)Gac>Aac p.D1100N FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) CAAGGGTCCCGACTCTTCCTT 0.438000 0 SO:0001583 missense ENST00000492622.2 0 1 hg19 CCDS41886.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 1.261 -0.615789 0.03663 0.00227 0.0 ENSG00000102531 ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316 T;T;T 0.35605 1.31;1.31;1.3 5.23 3.51 0.40186 Fibronectin, type III (3);Immunoglobulin-like fold (1); 0.380675 0.24422 N 0.038661 T 0.23886 0.0578 L 0.35487 1.065 0.09310 N 0.999999 B;B 0.16166 0.016;0.009 B;B 0.15870 0.014;0.002 T 0.20538 -1.0272 10 0.18276 T 0.48 -4.6725 8.3463 0.32275 0.2376:0.0:0.7624:0.0 . 1044;1100 Q9Y2H6-2;Q9Y2H6 .;FND3A_HUMAN N 1100;1036;1100;1044 ENSP00000417257:D1100N;ENSP00000441831:D1100N;ENSP00000381362:D1044N ENSP00000338579:D1036N D + 1 0 FNDC3A 48679233 1.000000 0.71417 0.066000 0.19879 0.010000 0.07245 4.351000 0.59398 0.596000 0.29794 -0.781000 0.03364 GAC TCGA-Z5-AAPL-01A-12D-A40W-08 FNDC3A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354845.2 0 0 0 7 366 0 95 1 2.929347e-01 9 42 0 95 2 0 0 0 0 0 2 1 0.980089 7 362 0 94 2 -6.767522 1 1 121412 20 44 1 1 2 3 2.008041 0 0.100000 2 0.107586 0.420000 0.180000 1.000000 0.380000 0.497430 0.420000 0 0.280000 0.730000 ACSBG1 23205 broad.mit.edu 37 15 78474328 78474328 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr15:78474328C>T ENST00000258873.4 - 8 1259 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 37 GCGTCGGGTTCGGCAAAGCAA 0.617000 0 SO:0001583 missense ENST00000258873.4 0 1 hg19 CCDS10298.1 . . . . . . . . . . C 16.95 3.263568 0.59431 . . ENSG00000103740 ENST00000258873;ENST00000541759 T;T 0.11712 2.75;2.75 5.14 4.21 0.49690 AMP-dependent synthetase/ligase (1); 0.343803 0.30338 N 0.009850 T 0.12305 0.0299 L 0.54863 1.705 0.31434 N 0.672767 P;B 0.35192 0.489;0.076 B;B 0.32624 0.149;0.045 T 0.04053 -1.0981 10 0.30854 T 0.27 -20.9457 15.0902 0.72188 0.0:0.8577:0.1423:0.0 . 348;352 B7Z2Y6;Q96GR2 .;ACBG1_HUMAN K 352;110 ENSP00000258873:E352K;ENSP00000439955:E110K ENSP00000258873:E352K E - 1 0 ACSBG1 76261383 0.780000 0.28664 0.125000 0.21846 0.935000 0.57460 1.253000 0.32886 1.283000 0.44513 0.650000 0.86243 GAA TCGA-Z5-AAPL-01A-12D-A40W-08 ACSBG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000289802.2 0 0 0 8 265 0 43 0 0 0 1 0 43 2 0 0 0 0 0 2 1 0.989342 8 263 0 42 2 -3.393421 1 1 121412 1 32 1 1 2 3 2.009458 0 0.100000 2 0.107586 0.650000 0.290000 1.000000 1.000000 0.681715 0.650000 0 0.440000 1.000000 DNAH9 1770 broad.mit.edu 37 17 11687719 11687719 + Missense_Mutation SNP G G T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:11687719G>T ENST00000262442.4 + 41 7992 c.7924G>T c.(7924-7926)Gcg>Tcg p.A2642S DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 290 Breast(5;0.0122)|all_epithelial(5;0.131) AAACTTCCCGGCGTCCCTGCA 0.542000 0 SO:0001583 missense ENST00000262442.4 1 1 hg19 CCDS11160.1 . . . . . . . . . . G 0.947 -0.707583 0.03230 . . ENSG00000007174 ENST00000262442;ENST00000454412;ENST00000413703 T;T 0.36699 1.24;1.24 5.56 0.768 0.18487 . 0.509864 0.20467 N 0.091774 T 0.12817 0.0311 N 0.04820 -0.15 0.09310 N 0.999996 B 0.06786 0.001 B 0.12156 0.007 T 0.25467 -1.0131 10 0.10902 T 0.67 . 4.329 0.11053 0.1421:0.1233:0.6074:0.1272 . 2642 Q9NYC9 DYH9_HUMAN S 2642;2642;1224 ENSP00000262442:A2642S;ENSP00000414874:A2642S ENSP00000262442:A2642S A + 1 0 DNAH9 11628444 0.149000 0.22717 0.002000 0.10522 0.000000 0.00434 2.179000 0.42528 0.694000 0.31654 -0.152000 0.13540 GCG TCGA-Z5-AAPL-01A-12D-A40W-08 DNAH9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252756.2 0 0 0 18 754 0 139 0 0 0 0 139 2 0 0 0 0 0 2 1 0.999979 17 742 0 139 2 -3.042933 1 1 0 0 1 0 1 1 1.993482 0 0.100000 2 0.092742 0.460000 0.280000 0.700000 0.460000 0.480862 0.460000 0 0.360000 0.580000 KRT26 353288 broad.mit.edu 37 17 38926606 38926606 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:38926606G>A ENST00000335552.4 - 3 628 c.580C>T c.(580-582)Cgc>Tgc p.R194C NM_181539.4 NP_853517.2 keratin 26 16 Breast(137;0.00526) AACACTCTGCGAAGACCACTG 0.488000 0 SO:0001583 missense ENST00000335552.4 1 1 hg19 CCDS11374.1 . . . . . . . . . . G 14.87 2.664425 0.47572 . . ENSG00000186393 ENST00000335552 D 0.92545 -3.06 5.42 5.42 0.78866 Filament (1); 0.193938 0.37136 N 0.002236 D 0.96078 0.8722 M 0.82193 2.58 0.35379 D 0.789788 D 0.89917 1.0 D 0.85130 0.997 D 0.99215 1.0877 10 0.87932 D 0 . 15.037 0.71754 0.0:0.0:0.8576:0.1424 . 194 Q7Z3Y9 K1C26_HUMAN C 194 ENSP00000334798:R194C ENSP00000334798:R194C R - 1 0 KRT26 36180132 0.004000 0.15560 0.133000 0.22050 0.393000 0.30537 1.481000 0.35476 2.705000 0.92388 0.655000 0.94253 CGC TCGA-Z5-AAPL-01A-12D-A40W-08 KRT26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257215.1 0 0 0 13 431 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 0.999474 12 422 0 89 2 -2.951480 1 1 121412 1 35 1 0 1 1 1.993482 0 0.100000 2 0.092742 0.580000 0.330000 0.930000 0.570000 0.607845 0.580000 0 0.440000 0.760000 PTRF 284119 broad.mit.edu 37 17 40557306 40557306 + Missense_Mutation SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:40557306C>G ENST00000357037.5 - 2 991 c.572G>C c.(571-573)cGg>cCg p.R191P NM_012232.5 NP_036364.2 polymerase I and transcript release factor 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) CTCCTCGGGCCGCTCGCCCTC 0.642000 0 SO:0001583 missense ENST00000357037.5 0 1 hg19 CCDS11425.1 . . . . . . . . . . C 10.29 1.309923 0.23821 . . ENSG00000177469 ENST00000357037;ENST00000357684 T 0.59083 0.29 5.35 3.16 0.36331 . 0.763946 0.12471 N 0.465970 T 0.37376 0.1001 N 0.14661 0.345 0.29558 N 0.850856 P;P 0.46952 0.887;0.755 B;B 0.43360 0.417;0.417 T 0.17992 -1.0351 10 0.32370 T 0.25 -26.2144 4.1299 0.10144 0.0:0.5917:0.0:0.4083 . 173;191 B4DNU9;Q6NZI2 .;PTRF_HUMAN P 191;146 ENSP00000349541:R191P ENSP00000349541:R191P R - 2 0 PTRF 37810832 1.000000 0.71417 1.000000 0.80357 0.649000 0.38597 2.269000 0.43346 1.260000 0.44134 0.446000 0.29264 CGG TCGA-Z5-AAPL-01A-12D-A40W-08 PTRF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449938.1 0 0 0 12 776 0 146 0 3.523221e-01 1 75 0 146 2 0 0 0 0 0 2 1 0.998943 12 753 0 143 2 -2.543191 1 1 0 0 1 0 1 1 1.993482 0 0.100000 2 0.092742 0.300000 0.160000 0.500000 0.300000 0.322435 0.300000 0 0.220000 0.410000 TP53 7157 broad.mit.edu 37 17 7577566 7577566 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 T C T T Valid Somatic Phase_I WXS targeted Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr17:7577566T>C ENST00000269305.4 - 7 904 c.715A>G c.(715-717)Aac>Gac p.N239D TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D 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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CAGGAACTGTTACACATGTAG 0.572000 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 95 Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(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 24.7 4.564934 0.86439 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 D;D;D;D;D;D;D;D 0.99748 -6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62 4.09 4.09 0.47781 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 0.99648 0.9870 M 0.87381 2.88 0.58432 D 0.99999 D;D;D;D;D;D 0.89917 0.999;0.972;0.999;0.999;0.999;1.0 D;P;D;D;D;D 0.91635 0.993;0.803;0.998;0.993;0.996;0.999 D 0.97636 1.0145 10 0.87932 D 0 -35.9081 11.6823 0.51466 0.0:0.0:0.0:1.0 . 239;239;146;239;239;239 P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;P53_HUMAN;.;. D 239;239;239;239;239;239;228;146;107;146 ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D ENSP00000269305:N239D N - 1 0 TP53 7518291 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.770000 0.85390 2.074000 0.62210 0.379000 0.24179 AAC TCGA-Z5-AAPL-01A-12D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 0 0 1 12 267 0 62 1 9.052728e-01 11 83 0 62 2 1 9.999997e-01 15 762 0 936 2 1 0.999075 11 263 0 60 2 -4.308988 1 1 0 0 1 0 1 1 1.993482 0 0.100000 2 0.092742 0.850000 0.470000 1.000000 1.000000 0.834432 0.850000 1 0.640000 1.000000 DTNA 1837 broad.mit.edu 37 18 32374135 32374135 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr18:32374135C>T ENST00000399113.3 + 3 283 c.283C>T c.(283-285)Cgg>Tgg p.R95W DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000283365.9_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 29 GCTCAACAAACGGATGCCAAC 0.498000 0 SO:0001583 missense ENST00000399113.3 1 1 hg19 CCDS59311.1 . . . . . . . . . . C 22.1 4.247247 0.80024 . . ENSG00000134769 ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113 T;T;T;T;T;T;T;T 0.67523 -0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27 5.43 2.35 0.29111 EF-hand domain, type 1 (1);EF-hand-like domain (1); 0.000000 0.85682 D 0.000000 D 0.82898 0.5137 M 0.89214 3.015 0.80722 D 1 D;D;D;D;D;D;D;D;D;D;D;D 0.89917 1.0;0.995;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D;D;D;D;D 0.91635 0.996;0.933;0.965;0.998;0.999;0.953;0.999;0.999;0.998;0.999;0.988;0.998 D 0.85817 0.1383 10 0.87932 D 0 -20.1745 13.365 0.60678 0.4429:0.5571:0.0:0.0 . 95;95;95;95;95;95;95;106;95;95;95;95 B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7 .;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;. W 95 ENSP00000283365:R95W;ENSP00000322519:R95W;ENSP00000269190:R95W;ENSP00000336682:R95W;ENSP00000382072:R95W;ENSP00000405819:R95W;ENSP00000269191:R95W;ENSP00000382064:R95W ENSP00000269190:R95W R + 1 2 DTNA 30628133 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.601000 0.46249 0.699000 0.31761 0.563000 0.77884 CGG TCGA-Z5-AAPL-01A-12D-A40W-08 DTNA-005 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255422.2 0 0 0 12 367 0 71 0 1.155573e-02 0 5 0 71 2 0 0 0 0 0 2 1 0.999047 12 360 0 71 2 -3.194878 1 1 0 0 1 0 0 0 1.962870 0 0.100000 2 0.076923 0.620000 0.340000 0.990000 1.000000 0.641320 0.620000 0 0.460000 0.810000 LRRC30 339291 broad.mit.edu 37 18 7231720 7231720 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr18:7231720C>T ENST00000383467.2 + 1 598 c.584C>T c.(583-585)tCg>tTg p.S195L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 31 CACGTGGGCTCGAATCGCCTG 0.537000 0 SO:0001583 missense ENST00000383467.2 0 1 hg19 CCDS42409.1 . . . . . . . . . . C 15.36 2.809700 0.50421 . . ENSG00000206422 ENST00000383467 T 0.25912 1.77 5.65 5.65 0.86999 . 0.097810 0.64402 D 0.000001 T 0.31702 0.0805 M 0.86740 2.835 0.40424 D 0.979872 D 0.59357 0.985 B 0.38106 0.265 T 0.43877 -0.9364 10 0.10902 T 0.67 . 16.3636 0.83296 0.0:0.8683:0.1317:0.0 . 195 A6NM36 LRC30_HUMAN L 195 ENSP00000372959:S195L ENSP00000372959:S195L S + 2 0 LRRC30 7221720 1.000000 0.71417 0.996000 0.52242 0.932000 0.56968 3.118000 0.50414 2.827000 0.97445 0.650000 0.86243 TCG TCGA-Z5-AAPL-01A-12D-A40W-08 LRRC30-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442140.1 0 0 0 8 320 0 72 0 0 0 0 72 2 0 0 0 0 0 2 1 0.989055 8 316 0 70 2 -3.077805 1 1 0 0 1 0 0 0 1.962870 0 0.100000 2 0.076923 0.480000 0.230000 0.850000 0.460000 0.511772 0.480000 0 0.340000 0.670000 EMR1 2015 broad.mit.edu 37 19 6896543 6896543 + Nonsense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:6896543C>T ENST00000312053.4 + 3 266 c.229C>T c.(229-231)Cga>Tga p.R77* AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77* NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 62 all_hematologic(4;0.166) TCCAGGAGTGCGATGCAAAGG 0.488000 0 SO:0001587 stop_gained ENST00000312053.4 0 1 hg19 CCDS12175.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 13.99 2.401597 0.42613 . . ENSG00000174837 ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315 . . . 3.91 -4.95 0.03048 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.15066 T 0.55 . 5.419 0.16390 0.5275:0.1535:0.319:0.0 . . . . X 77 . ENSP00000250572:R77X R + 1 2 EMR1 6847543 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.033000 0.03571 -1.227000 0.02571 -1.146000 0.01853 CGA TCGA-Z5-AAPL-01A-12D-A40W-08 EMR1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458485.1 0 0 0 5 185 0 47 0 0 0 1 0 47 2 0 0 0 0 0 2 1 0.936632 4 184 0 46 2 -6.731108 1 0 121410 3 35 1 1 2 3 2.018897 0 0.100000 2 0.109792 0.620000 0.230000 1.000000 1.000000 0.660959 0.620000 0 0.380000 1.000000 MCOLN1 57192 broad.mit.edu 37 19 7594053 7594053 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr19:7594053G>A ENST00000264079.6 + 10 1326 c.1201G>A c.(1201-1203)Gtg>Atg p.V401M NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 18 GTGGGTGGGCGTGATCCGCTA 0.572000 0 SO:0001583 missense ENST00000264079.6 0 1 hg19 CCDS12180.1 . . . . . . . . . . G 25.7 4.668544 0.88348 . . ENSG00000090674 ENST00000264079;ENST00000394321 T 0.71934 -0.61 5.27 5.27 0.74061 Polycystin cation channel, PKD1/PKD2 (1); 0.000000 0.85682 D 0.000000 T 0.81460 0.4827 M 0.69248 2.105 0.80722 D 1 D;D 0.69078 0.969;0.997 P;D 0.64237 0.713;0.923 T 0.82374 -0.0489 10 0.52906 T 0.07 . 16.364 0.83307 0.0:0.0:1.0:0.0 . 366;401 Q9GZU1-2;Q9GZU1 .;MCLN1_HUMAN M 401;366 ENSP00000264079:V401M ENSP00000264079:V401M V + 1 0 MCOLN1 7500053 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.473000 0.97714 2.459000 0.83118 0.561000 0.74099 GTG TCGA-Z5-AAPL-01A-12D-A40W-08 MCOLN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458974.2 0 0 1 6 268 0 64 1 1.982095e-01 9 23 0 64 2 0 0 0 0 0 2 1 0.963408 6 263 0 63 2 -3.021927 1 1 0 0 1 1 2 3 2.018897 0 0.100000 2 0.109792 0.510000 0.200000 1.000000 0.430000 0.578691 0.510000 0 0.320000 1.000000 FAM20B 9917 broad.mit.edu 37 1 179033482 179033482 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:179033482G>A ENST00000263733.4 + 6 1125 c.789G>A c.(787-789)acG>acA p.T263T NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 14 TGAAGAAAACGTCCCCTTATG 0.502000 0 SO:0001819 synonymous_variant ENST00000263733.4 0 1 hg19 CCDS1328.1 TCGA-Z5-AAPL-01A-12D-A40W-08 FAM20B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084922.1 0 0 0 11 481 0 99 0 7.977548e-02 0 19 0 99 2 0 0 0 0 0 2 1 0.998252 11 475 0 99 2 -3.111983 1 1 121412 1 33 1 1 2 3 2.005483 0 0.100000 2 0.106700 0.480000 0.240000 1.000000 0.440000 0.542722 0.480000 0 0.350000 0.730000 C1orf173 0 broad.mit.edu 37 1 75065538 75065538 + Missense_Mutation SNP T T C TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr1:75065538T>C ENST00000326665.5 - 11 1785 c.1567A>G c.(1567-1569)Atg>Gtg p.M523V C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 ERIC3_HUMAN 184 ATTCCATTCATTTGAACATCA 0.388000 0 SO:0001583 missense ENST00000326665.5 1 1 hg19 CCDS30755.1 . . . . . . . . . . T 0.834 -0.744144 0.03088 . . ENSG00000178965 ENST00000326665;ENST00000420661 T;T 0.16897 2.71;2.31 6.05 2.54 0.30619 . . . . . T 0.04634 0.0126 L 0.43152 1.355 0.25581 N 0.986794 B;B 0.28350 0.018;0.208 B;B 0.22152 0.011;0.038 T 0.37407 -0.9707 9 0.27082 T 0.32 -8.5564 8.5652 0.33536 0.0:0.2774:0.0:0.7226 . 326;523 Q5RHP9-3;Q5RHP9 .;CA173_HUMAN V 523;326 ENSP00000322609:M523V;ENSP00000398581:M326V ENSP00000322609:M523V M - 1 0 C1orf173 74838126 1.000000 0.71417 0.973000 0.42090 0.002000 0.02628 1.395000 0.34520 0.531000 0.28639 -0.924000 0.02725 ATG TCGA-Z5-AAPL-01A-12D-A40W-08 C1orf173-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026516.1 0 0 0 18 593 0 118 0 0 0 0 118 2 0 0 0 0 0 2 1 0.999981 18 589 0 118 2 -15.734380 1 1 0 0 1 1 2 3 2.010900 0 0.100000 2 0.108028 0.630000 0.370000 1.000000 0.590000 0.669864 0.630000 0 0.480000 0.920000 DIDO1 11083 broad.mit.edu 37 20 61513415 61513415 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr20:61513415G>A ENST00000266070.4 - 16 4218 c.3893C>T c.(3892-3894)aCg>aTg p.T1298M DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 99 Breast(26;5.68e-08) GGAAGCTGCCGTGGAGGCTGC 0.587000 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) 0 SO:0001583 missense ENST00000266070.4 1 1 hg19 CCDS33506.1 . . . . . . . . . . G 15.38 2.816445 0.50527 . . ENSG00000101191 ENST00000266070;ENST00000395343 T;T 0.08984 3.03;3.03 5.1 -5.01 0.02991 . 1.157060 0.06652 N 0.762887 T 0.05547 0.0146 L 0.44542 1.39 0.09310 N 1 D 0.55385 0.971 B 0.32805 0.153 T 0.39623 -0.9605 10 0.48119 T 0.1 -4.5123 8.9622 0.35854 0.3154:0.4322:0.2523:0.0 . 1298 Q9BTC0 DIDO1_HUMAN M 1298 ENSP00000266070:T1298M;ENSP00000378752:T1298M ENSP00000266070:T1298M T - 2 0 DIDO1 60983860 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.961000 0.03845 -0.878000 0.04007 -0.253000 0.11424 ACG TCGA-Z5-AAPL-01A-12D-A40W-08 DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 1 0 0 35 571 0 127 0 1.983426e-02 0 4 0 127 2 0 0 0 0 0 2 1 1.000000 31 497 0 115 2 -3.017764 1 1 121390 8 42 1 1 2 3 2.029556 0 0.100000 2 0.111988 0.990000 0.840000 1.000000 1.000000 0.988215 0.990000 1 0.990000 1.000000 KRTAP11-1 337880 broad.mit.edu 37 21 32253584 32253584 + Missense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr21:32253584C>T ENST00000332378.4 - 1 290 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 p.R87P(3) 18 GGTAGTTTGTCGAGAGCAAGT 0.562000 3 Substitution - Missense(3) SO:0001583 missense ENST00000332378.4 0 1 hg19 CCDS13608.1 . . . . . . . . . . C 16.79 3.220423 0.58560 0.0 1.16E-4 ENSG00000182591 ENST00000332378 T 0.03272 3.99 5.4 3.44 0.39384 . 0.155844 0.40222 N 0.001147 T 0.12561 0.0305 M 0.83118 2.625 0.09310 N 1 D 0.63880 0.993 P 0.55260 0.772 T 0.21280 -1.0250 10 0.15952 T 0.53 -4.064 14.4357 0.67279 0.0:0.7222:0.2778:0.0 . 87 Q8IUC1 KR111_HUMAN Q 87 ENSP00000330720:R87Q ENSP00000330720:R87Q R - 2 0 KRTAP11-1 31175455 0.328000 0.24687 0.105000 0.21289 0.909000 0.53808 1.165000 0.31822 1.398000 0.46701 0.650000 0.86243 CGA TCGA-Z5-AAPL-01A-12D-A40W-08 KRTAP11-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128225.1 0 0 0 5 228 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.938210 6 227 0 35 2 -2.905518 1 1 121412 14 42 1 1 2 3 2.013952 0 0.100000 2 0.108470 0.500000 0.180000 1.000000 0.410000 0.568734 0.500000 0 0.310000 1.000000 TTLL4 9654 broad.mit.edu 37 2 219614735 219614735 + Silent SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:219614735C>A ENST00000392102.1 + 15 3079 c.2739C>A c.(2737-2739)ctC>ctA p.L913L TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000442769.1_Silent_p.L849L|TTLL4_ENST00000258398.4_Silent_p.L913L NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 39 Renal(207;0.0915) TCTGAAGCCTCCACTCCAGCT 0.468000 GBM(172;1818 2053 15407 20943 49753) 0 SO:0001819 synonymous_variant ENST00000392102.1 1 1 hg19 CCDS2422.1 . . . . . . . . . . C 7.239 0.600803 0.13939 . . ENSG00000135912 ENST00000436668 . . . 4.87 1.8 0.24995 . . . . . T 0.54431 0.1858 . . . 0.80722 D 1 . . . . . . T 0.46359 -0.9197 4 . . . . 6.8562 0.24042 0.0:0.6245:0.1469:0.2285 . . . . T 58 . . P + 1 0 TTLL4 219322979 0.989000 0.36119 0.998000 0.56505 0.827000 0.46813 0.307000 0.19296 0.624000 0.30286 0.650000 0.86243 CCA TCGA-Z5-AAPL-01A-12D-A40W-08 TTLL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256726.1 0 0 0 24 972 0 270 1 2.559310e-01 5 34 0 270 2 0 0 0 0 0 2 1 1.000000 24 958 0 268 2 -2.296168 0 1 0 0 1 0 1 1 1.999628 0 0.100000 2 0.094112 0.480000 0.310000 0.680000 0.480000 0.492939 0.480000 0 0.390000 0.590000 VWA3B 200403 broad.mit.edu 37 2 98736133 98736133 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr2:98736133G>A ENST00000477737.1 + 4 653 c.449G>A c.(448-450)gGc>gAc p.G150D VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 70 GATTTTGGCGGCATTCTGGAG 0.522000 0 SO:0001583 missense ENST00000477737.1 0 1 hg19 CCDS42718.1 . . . . . . . . . . G 1.464 -0.561569 0.03939 . . ENSG00000168658 ENST00000435344;ENST00000477737 T;T 0.35973 1.28;1.28 6.02 -3.25 0.05079 . 1.332560 0.04551 N 0.389819 T 0.19967 0.0480 N 0.17474 0.49 0.09310 N 1 B;B 0.13145 0.007;0.001 B;B 0.13407 0.009;0.002 T 0.17501 -1.0367 10 0.32370 T 0.25 . 4.4567 0.11647 0.553:0.1139:0.2439:0.0893 . 150;150 Q502W6;Q502W6-8 VWA3B_HUMAN;. D 150 ENSP00000401959:G150D;ENSP00000417955:G150D ENSP00000411168:G150D G + 2 0 VWA3B 98102565 0.000000 0.05858 0.000000 0.03702 0.107000 0.19398 0.140000 0.16056 -0.462000 0.06984 -0.150000 0.13652 GGC TCGA-Z5-AAPL-01A-12D-A40W-08 VWA3B-020 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353469.2 0 0 0 7 873 0 158 0 0 0 0 158 2 0 0 0 0 0 2 1 0.979139 7 855 0 157 2 -1.904572 0 1 0 0 1 0 1 1 1.999628 0 0.100000 2 0.094112 0.160000 0.070000 0.310000 0.150000 0.178256 0.160000 0 0.110000 0.240000 PBRM1 55193 broad.mit.edu 37 3 52637535 52637535 + Splice_Site SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 A G A A Valid Somatic Phase_I WXS targeted Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr3:52637535A>G ENST00000296302.7 - 17 2781 c.e17+1 PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 335 AAAGAAACCAACCTCTTTTTT 0.318000 Mis, N, F, S, D, O clear cell renal carcinoma, breast Rec yes 3 3p21 55193 polybromo 1 E 0 SO:0001630 splice_region_variant ENST00000296302.7 0 1 hg19 . . . . . . . . . . A 22.5 4.302447 0.81136 . . ENSG00000163939 ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103 . . . 5.43 5.43 0.79202 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.3425 0.66636 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . PBRM1 52612575 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.877000 0.92386 2.174000 0.68829 0.445000 0.29226 . TCGA-Z5-AAPL-01A-12D-A40W-08 PBRM1-008 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000327232.1 0 0 0 5 93 0 25 0 0 0 0 25 2 1 9.985971e-01 7 280 0 262 2 1 0.935809 5 91 0 25 2 -8.962530 1 1 0 0 1 0 0 0 1.979503 0 0.100000 2 0.085366 0.960000 0.390000 1.000000 1.000000 0.859649 0.960000 1 0.630000 1.000000 RAPGEF2 9693 broad.mit.edu 37 4 160266337 160266337 + Missense_Mutation SNP A A T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:160266337A>T ENST00000264431.4 + 18 3294 c.2875A>T c.(2875-2877)Agt>Tgt p.S959C NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 70 all_hematologic(180;0.24) GGTACGTCGTAGTTCCTTTCT 0.448000 0 SO:0001583 missense ENST00000264431.4 1 1 hg19 CCDS43277.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 26.5|26.5 4.747227|4.747227 0.89663|0.89663 .|. .|. ENSG00000109756|ENSG00000109756 ENST00000264431|ENST00000502485 T|. 0.43688|. 0.94|. 6.07|6.07 6.07|6.07 0.98685|0.98685 Ras guanine nucleotide exchange factor, domain (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|. 0.77896|. 0.4199|. M|M 0.79693|0.79693 2.465|2.465 0.80722|0.80722 D|D 1|1 D|. 0.76494|. 0.999|. D|. 0.68765|. 0.96|. T|. 0.78640|. -0.2125|. 10|. 0.87932|. D|. 0|. .|. 16.6288|16.6288 0.85011|0.85011 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 959|. Q9Y4G8|. RPGF2_HUMAN|. C|L 959|64 ENSP00000264431:S959C|. ENSP00000264431:S959C|. S|X +|+ 1|2 0|0 RAPGEF2|RAPGEF2 160485787|160485787 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.339000|9.339000 0.96797|0.96797 2.326000|2.326000 0.78906|0.78906 0.533000|0.533000 0.62120|0.62120 AGT|TAG TCGA-Z5-AAPL-01A-12D-A40W-08 RAPGEF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364980.2 1 0 0 25 528 0 119 1 1.724307e-01 2 14 0 119 2 0 0 0 0 0 2 1 1.000000 25 522 0 117 2 -5.056357 1 1 0 0 1 1 2 3 2.003601 0 0.100000 2 0.106256 0.940000 0.610000 1.000000 1.000000 0.899503 0.940000 1 0.760000 1.000000 FAT1 2195 broad.mit.edu 37 4 187521297 187521297 + Missense_Mutation SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:187521297C>A ENST00000441802.2 - 22 12067 c.11858G>T c.(11857-11859)gGt>gTt p.G3953V FAT1_ENST00000512347.1_5'Flank NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 228 GATGTGGCCACCAAAAAACAC 0.488000 HNSCC(5;0.00058) Colon(197;1040 2055 4143 4984 49344) 0 SO:0001583 missense ENST00000441802.2 1 1 hg19 CCDS47177.1 . . . . . . . . . . C 29.9 5.043601 0.93685 . . ENSG00000083857 ENST00000441802;ENST00000260147 D 0.96716 -4.1 4.94 4.94 0.65067 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.85682 D 0.000000 D 0.98626 0.9540 M 0.93978 3.48 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98858 1.0761 10 0.52906 T 0.07 . 18.7161 0.91677 0.0:1.0:0.0:0.0 . 3953 Q14517 FAT1_HUMAN V 3953;3955 ENSP00000406229:G3953V ENSP00000260147:G3955V G - 2 0 FAT1 187758291 1.000000 0.71417 1.000000 0.80357 0.883000 0.51084 7.490000 0.81461 2.726000 0.93360 0.655000 0.94253 GGT TCGA-Z5-AAPL-01A-12D-A40W-08 FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 0 0 1 14 362 0 66 1 4.899405e-01 8 34 0 66 2 0 0 0 0 0 2 1 0.999753 14 359 0 66 2 -3.745974 1 1 0 0 1 0 1 1 1.982565 0 0.100000 2 0.087684 0.730000 0.420000 1.000000 1.000000 0.748371 0.730000 0 0.560000 0.940000 C4orf50 389197 broad.mit.edu 37 4 5969140 5969140 + Splice_Site SNP C C A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr4:5969140C>A ENST00000324058.5 - 5 547 c.e5+1 C4orf50_ENST00000531445.1_Splice_Site Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 15 ATCACACTGACCTCTTAAAGC 0.537000 0 SO:0001630 splice_region_variant ENST00000324058.5 0 1 hg19 . . . . . . . . . . C 11.01 1.514360 0.27123 . . ENSG00000181215 ENST00000531445;ENST00000324058 . . . 2.99 2.99 0.34606 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 9.7214 0.40306 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . C4orf50 6020041 0.997000 0.39634 1.000000 0.80357 0.411000 0.31082 1.288000 0.33296 1.992000 0.58205 0.655000 0.94253 . TCGA-Z5-AAPL-01A-12D-A40W-08 C4orf50-201 KNOWN basic|appris_candidate protein_coding protein_coding 0 0 0 6 381 0 74 0 0 0 0 74 2 0 0 0 0 0 2 1 0.963835 6 376 0 73 2 -6.003041 1 1 121412 9 40 1 1 2 3 2.003601 0 0.100000 2 0.106256 0.350000 0.140000 1.000000 0.300000 0.426579 0.350000 0 0.220000 0.590000 MEGF10 84466 broad.mit.edu 37 5 126732303 126732303 + Silent SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:126732303C>T ENST00000274473.6 + 7 759 c.492C>T c.(490-492)acC>acT p.T164T MEGF10_ENST00000418761.2_Silent_p.T164T|MEGF10_ENST00000503335.2_Silent_p.T164T|MEGF10_ENST00000508365.1_Silent_p.T164T NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) ACCCCATCACCGGGGCTTGCC 0.622000 0 SO:0001819 synonymous_variant ENST00000274473.6 0 1 hg19 CCDS4142.1 TCGA-Z5-AAPL-01A-12D-A40W-08 MEGF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250973.2 0 0 0 5 406 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 0.932924 5 395 0 85 2 -2.953216 1 1 0 0 1 1 2 3 2.003182 0 0.100000 2 0.106256 0.280000 0.100000 1.000000 0.240000 0.366232 0.280000 0 0.170000 0.490000 PCDHGB6 56100 broad.mit.edu 37 5 140788191 140788191 + Missense_Mutation SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:140788191A>G ENST00000520790.1 + 1 422 c.422A>G c.(421-423)gAa>gGa p.E141G PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACATTTAGAAATTTTCGAA 0.363000 0 SO:0001583 missense ENST00000520790.1 0 1 hg19 CCDS54929.1 . . . . . . . . . . a 17.47 3.397159 0.62177 . . ENSG00000253305 ENST00000520790 T 0.54866 0.55 5.16 5.16 0.70880 Cadherin (3);Cadherin-like (1); . . . . T 0.70544 0.3236 M 0.91406 3.205 0.23773 N 0.996885 P;P 0.45768 0.866;0.837 P;P 0.48770 0.589;0.559 T 0.69105 -0.5233 9 0.87932 D 0 . 14.9944 0.71418 1.0:0.0:0.0:0.0 . 141;141 Q9Y5F9;Q9Y5F9-2 PCDGI_HUMAN;. G 141 ENSP00000428603:E141G ENSP00000428603:E141G E + 2 0 PCDHGB6 140768375 0.990000 0.36364 0.666000 0.29783 0.959000 0.62525 3.486000 0.53215 1.943000 0.56356 0.383000 0.25322 GAA TCGA-Z5-AAPL-01A-12D-A40W-08 PCDHGB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374746.1 0 0 0 8 320 0 69 0 8.239495e-04 0 2 0 69 2 0 0 0 0 0 2 1 0.989192 8 317 0 69 2 -9.175200 1 1 0 0 1 1 2 3 2.003182 0 0.100000 2 0.106256 0.530000 0.240000 1.000000 0.480000 0.586072 0.530000 0 0.360000 0.840000 SH3TC2 79628 broad.mit.edu 37 5 148407193 148407193 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr5:148407193G>A ENST00000515425.1 - 11 2203 c.2102C>T c.(2101-2103)gCc>gTc p.A701V SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A248V|SH3TC2_ENST00000513340.1_5'Flank NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCTTGGGCACTCTGGAT 0.522000 0 SO:0001583 missense ENST00000515425.1 0 1 hg19 CCDS4293.1 . . . . . . . . . . G 0.023 -1.400817 0.01165 . . ENSG00000169247 ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358 T;T;T;T 0.80738 -1.41;-0.99;-0.99;-0.62 6.16 0.91 0.19337 . 0.676499 0.15440 N 0.262254 T 0.60907 0.2305 N 0.19112 0.55 0.09310 N 1 B;B;B;B 0.10296 0.003;0.001;0.0;0.001 B;B;B;B 0.08055 0.003;0.001;0.001;0.001 T 0.43988 -0.9357 10 0.33141 T 0.24 0.0658 2.7471 0.05270 0.3708:0.1077:0.4114:0.1101 . 586;694;701;701 C9JLC3;Q14CC0;E9PDF1;Q8TF17 .;.;.;S3TC2_HUMAN V 248;701;694;586 ENSP00000441427:A248V;ENSP00000423660:A701V;ENSP00000421860:A694V;ENSP00000377886:A586V ENSP00000377886:A586V A - 2 0 SH3TC2 148387386 0.000000 0.05858 0.018000 0.16275 0.056000 0.15407 -0.600000 0.05693 -0.109000 0.12044 0.650000 0.86243 GCC TCGA-Z5-AAPL-01A-12D-A40W-08 SH3TC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252186.2 0 0 0 9 466 0 82 0 0 0 1 0 82 2 0 0 0 0 0 2 1 0.993669 9 456 0 81 2 -3.118319 1 1 0 0 1 1 2 3 2.003182 0 0.100000 2 0.106256 0.410000 0.190000 1.000000 0.380000 0.480060 0.410000 0 0.290000 0.640000 IYD 389434 broad.mit.edu 37 6 150719206 150719206 + Missense_Mutation SNP A A G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:150719206A>G ENST00000344419.3 + 5 843 c.703A>G c.(703-705)Act>Gct p.T235A IYD_ENST00000392256.2_3'UTR|IYD_ENST00000229447.5_Missense_Mutation_p.D272G NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) AGGTCTGGTGACTGTCACTAC 0.547000 0 SO:0001583 missense ENST00000344419.3 1 1 hg19 CCDS5227.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 19.13|19.13 3.767314|3.767314 0.69878|0.69878 .|. .|. ENSG00000009765|ENSG00000009765 ENST00000229447|ENST00000344419 D|T 0.89270|0.76578 -2.49|-1.03 6.06|6.06 6.06|6.06 0.98353|0.98353 .|Nitroreductase-like (3); 1.386530|. 0.04568|. N|. 0.392699|. T|T 0.74199|0.74199 0.3685|0.3685 M|M 0.67953|0.67953 2.075|2.075 0.80722|0.80722 D|D 1|1 P|B;B 0.39282|0.32543 0.666|0.375;0.105 B|B;B 0.33339|0.40329 0.162|0.28;0.326 T|T 0.75539|0.75539 -0.3282|-0.3282 10|9 0.12430|0.45353 T|T 0.62|0.12 -7.4588|-7.4588 16.6127|16.6127 0.84892|0.84892 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 272|153;235 C9JFW2|Q2VPV9;Q6PHW0 .|.;IYD1_HUMAN G|A 272|235 ENSP00000229447:D272G|ENSP00000343763:T235A ENSP00000229447:D272G|ENSP00000343763:T235A D|T +|+ 2|1 0|0 IYD|IYD 150760899|150760899 1.000000|1.000000 0.71417|0.71417 0.994000|0.994000 0.49952|0.49952 0.980000|0.980000 0.70556|0.70556 9.158000|9.158000 0.94723|0.94723 2.322000|2.322000 0.78497|0.78497 0.528000|0.528000 0.53228|0.53228 GAC|ACT TCGA-Z5-AAPL-01A-12D-A40W-08 IYD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043754.3 0 0 0 9 431 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 0.993890 9 424 0 107 2 -8.238377 1 1 0 0 1 1 2 3 2.000725 0 0.100000 2 0.105812 0.440000 0.210000 1.000000 0.400000 0.504319 0.440000 0 0.310000 0.680000 MAP3K7 6885 broad.mit.edu 37 6 91281458 91281458 + Missense_Mutation SNP T T A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr6:91281458T>A ENST00000369329.3 - 2 350 c.189A>T c.(187-189)aaA>aaT p.K63N MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) TTTCTATTTGTTTAATAGCAA 0.343000 0 SO:0001583 missense ENST00000369329.3 0 1 hg19 CCDS5028.1 . . . . . . . . . . T 20.8 4.049793 0.75846 . . ENSG00000135341 ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832 T;T;T;T 0.72725 -0.68;-0.68;-0.68;-0.68 5.57 0.54 0.17163 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.083754 0.85682 D 0.000000 D 0.83718 0.5315 H 0.96833 3.89 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 D 0.84563 0.0651 10 0.87932 D 0 . 9.6418 0.39844 0.0:0.3498:0.0:0.6502 . 63;63;63;63 O43318-4;O43318-2;O43318-3;O43318 .;.;.;M3K7_HUMAN N 63 ENSP00000358338:K63N;ENSP00000358335:K63N;ENSP00000358331:K63N;ENSP00000358333:K63N ENSP00000358331:K63N K - 3 2 MAP3K7 91338179 1.000000 0.71417 0.997000 0.53966 0.997000 0.91878 0.788000 0.26872 -0.119000 0.11830 0.455000 0.32223 AAA TCGA-Z5-AAPL-01A-12D-A40W-08 MAP3K7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041530.1 0 0 0 5 260 0 42 1 1.822282e-01 2 32 0 42 2 0 0 0 0 0 2 1 0.934301 5 254 0 42 2 -6.396762 1 1 0 0 1 1 2 3 2.000725 0 0.100000 2 0.105812 0.430000 0.160000 1.000000 0.360000 0.496058 0.430000 0 0.270000 0.730000 HBP1 26959 broad.mit.edu 37 7 106826825 106826825 + Missense_Mutation SNP C C G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr7:106826825C>G ENST00000222574.4 + 5 746 c.560C>G c.(559-561)tCt>tGt p.S187C HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 10 GAGTCAGAATCTGGCATTTTC 0.353000 0 SO:0001583 missense ENST00000222574.4 0 1 hg19 CCDS5741.1 . . . . . . . . . . C 24.6 4.552901 0.86127 . . ENSG00000105856 ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408 D;D;D 0.99292 -5.7;-5.7;-5.7 5.87 5.87 0.94306 . 0.045544 0.85682 D 0.000000 D 0.99020 0.9665 L 0.32530 0.975 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.83275 0.97;0.996;0.991 D 0.99933 1.1335 10 0.87932 D 0 -17.6824 20.206 0.98277 0.0:1.0:0.0:0.0 . 197;187;187 B4DJ36;O60381-3;O60381 .;.;HBP1_HUMAN C 187;187;187;179 ENSP00000420500:S187C;ENSP00000222574:S187C;ENSP00000418738:S187C ENSP00000222574:S187C S + 2 0 HBP1 106614061 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.770000 0.85390 2.785000 0.95823 0.655000 0.94253 TCT TCGA-Z5-AAPL-01A-12D-A40W-08 HBP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349297.1 0 0 0 10 585 0 91 1 3.265751e-01 2 62 0 91 2 0 0 0 0 0 2 1 0.996644 10 575 0 91 2 -2.934237 1 1 0 0 1 1 2 3 2.006178 0 0.100000 2 0.107143 0.370000 0.180000 1.000000 0.340000 0.445952 0.370000 0 0.260000 0.580000 PRSS55 203074 broad.mit.edu 37 8 10389055 10389055 + Splice_Site SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:10389055G>A ENST00000328655.3 + 3 638 c.598G>A c.(598-600)Gct>Act p.A200T PRSS55_ENST00000522210.1_Splice_Site_p.A200T|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 31 GACCAATGCTGGTATGTGACT 0.597000 0 SO:0001630 splice_region_variant ENST00000328655.3 0 1 hg19 CCDS5976.1 . . . . . . . . . . G 9.359 1.067468 0.20067 . . ENSG00000184647 ENST00000328655;ENST00000522210 D;D 0.92752 -3.1;-3.1 4.98 3.07 0.35406 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 2.277430 0.02191 N 0.061344 D 0.84088 0.5395 N 0.11789 0.175 0.30422 N 0.77797 B 0.20671 0.047 B 0.19148 0.024 T 0.74070 -0.3783 10 0.19590 T 0.45 . 5.7986 0.18401 0.2921:0.0:0.7079:0.0 . 200 Q6UWB4 PRS55_HUMAN T 200 ENSP00000333003:A200T;ENSP00000430459:A200T ENSP00000333003:A200T A + 1 0 PRSS55 10426465 0.954000 0.32549 0.319000 0.25293 0.107000 0.19398 1.531000 0.36018 0.657000 0.30906 0.655000 0.94253 GCT TCGA-Z5-AAPL-01A-12D-A40W-08 PRSS55-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251493.3 0 0 0 4 240 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 0.888188 4 237 0 48 2 -3.968658 1 1 0 0 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.400000 0.130000 1.000000 0.320000 0.483996 0.400000 0 0.230000 0.850000 RIMS2 9699 broad.mit.edu 37 8 104898176 104898176 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:104898176G>A ENST00000436393.2 + 2 924 c.683G>A c.(682-684)cGt>cAt p.R228H RIMS2_ENST00000507740.1_Missense_Mutation_p.R258H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACTTGAGGCGTACTGACTCA 0.463000 HNSCC(12;0.0054) 0 SO:0001583 missense ENST00000436393.2 0 1 hg19 . . . . . . . . . . G 20.4 3.986352 0.74589 . . ENSG00000176406 ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393 T;T;T;T;T;T;T 0.19250 2.16;2.65;2.22;2.27;2.3;2.23;2.62 5.65 5.65 0.86999 . . . . . T 0.42154 0.1190 L 0.43152 1.355 0.80722 D 1 P;D;D;D;D 0.89917 0.474;0.999;0.999;1.0;1.0 B;D;D;D;D 0.87578 0.087;0.992;0.983;0.995;0.998 T 0.10405 -1.0631 9 0.54805 T 0.06 . 19.7233 0.96151 0.0:0.0:1.0:0.0 . 481;228;258;258;450 Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47 RIMS2_HUMAN;.;.;.;. H 450;481;450;481;258;258;258;258;228 ENSP00000427018:R450H;ENSP00000384892:R450H;ENSP00000425205:R258H;ENSP00000262231:R258H;ENSP00000423559:R258H;ENSP00000386228:R258H;ENSP00000390665:R228H ENSP00000262231:R258H R + 2 0 RIMS2 104967352 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 6.553000 0.73918 2.653000 0.90120 0.563000 0.77884 CGT TCGA-Z5-AAPL-01A-12D-A40W-08 RIMS2-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000367217.1 0 0 0 6 283 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 0.963485 6 278 0 37 2 -3.126101 1 1 0 0 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.480000 0.190000 1.000000 0.410000 0.548108 0.480000 0 0.300000 0.910000 KCNQ3 3786 broad.mit.edu 37 8 133141614 133141614 + Silent SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:133141614C>T ENST00000388996.4 - 15 2934 c.2514G>A c.(2512-2514)acG>acA p.T838T KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939) TGTCTGTGTCCGTCTCACCCT 0.592000 0 SO:0001819 synonymous_variant ENST00000388996.4 0 1 hg19 CCDS34943.1 TCGA-Z5-AAPL-01A-12D-A40W-08 KCNQ3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268621.2 0 0 0 7 188 0 31 0 0 0 1 0 31 2 0 0 0 0 0 2 1 0.980476 7 186 0 30 2 -3.339554 1 1 121412 3 38 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.810000 0.350000 1.000000 1.000000 0.783944 0.810000 0 0.530000 1.000000 PARP10 84875 broad.mit.edu 37 8 145059362 145059362 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:145059362G>A ENST00000313028.7 - 5 902 c.808C>T c.(808-810)Cct>Tct p.P270S PARP10_ENST00000524918.1_Missense_Mutation_p.P270S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P282S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGCCCTAGGCCCCTGGGTG 0.652000 0 SO:0001583 missense ENST00000313028.7 0 1 hg19 CCDS34960.1 . . . . . . . . . . G 2.898 -0.228166 0.06022 . . ENSG00000178685 ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059 T;T;T;T 0.30182 3.01;3.02;3.0;1.54 3.23 -2.24 0.06909 . 0.851711 0.09771 N 0.758047 T 0.12689 0.0308 N 0.08118 0 0.09310 N 1 B;B;B 0.15141 0.006;0.012;0.006 B;B;B 0.11329 0.006;0.006;0.006 T 0.36601 -0.9741 10 0.13470 T 0.59 . 7.6289 0.28228 0.6322:0.0:0.3678:0.0 . 282;270;270 E9PNI7;E9PK67;Q53GL7 .;.;PAR10_HUMAN S 270;270;282;185 ENSP00000431620:P270S;ENSP00000325618:P270S;ENSP00000434776:P282S;ENSP00000314320:P185S ENSP00000325618:P270S P - 1 0 PARP10 145131350 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.671000 0.01954 -0.729000 0.04875 -0.266000 0.10368 CCT TCGA-Z5-AAPL-01A-12D-A40W-08 PARP10-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000383866.1 0 0 0 7 333 0 49 1 7.817497e-01 4 133 0 49 2 0 0 0 0 0 2 1 0.978492 7 322 0 49 2 -7.204113 1 1 0 0 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.470000 0.200000 1.000000 0.410000 0.539043 0.470000 0 0.310000 0.860000 PCM1 5108 broad.mit.edu 37 8 17829972 17829972 + Missense_Mutation SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:17829972G>A ENST00000519253.1 + 23 3970 c.3719G>A c.(3718-3720)cGc>cAc p.R1240H PCM1_ENST00000325083.8_Missense_Mutation_p.R1240H|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H Q15154 PCM1_HUMAN pericentriolar material 1 PCM1/JAK2(30) 48 AGTAGTAACCGCAAAAATCAA 0.383000 T RET, JAK2 papillary thyroid, CML, MPD Dom yes 8 8p22-p21.3 5108 pericentriolar material 1 (PTC4) E, L 0 SO:0001583 missense ENST00000519253.1 0 1 hg19 . . . . . . . . . . G 1.036 -0.680456 0.03353 . . ENSG00000078674 ENST00000325083;ENST00000519253;ENST00000524226 T;T;T 0.50277 0.75;0.75;0.75 4.97 3.19 0.36642 . 0.364612 0.32416 N 0.006134 T 0.15435 0.0372 N 0.00926 -1.1 0.80722 D 1 B;B;B;B 0.13145 0.0;0.007;0.0;0.007 B;B;B;B 0.06405 0.001;0.002;0.001;0.002 T 0.03034 -1.1080 10 0.27082 T 0.32 -1.6817 4.7527 0.13068 0.3013:0.1584:0.5402:0.0 . 102;1240;1241;1240 B4DJ00;E7ETA6;E7EV56;Q15154 .;.;.;PCM1_HUMAN H 1240;1240;1241 ENSP00000327077:R1240H;ENSP00000431099:R1240H;ENSP00000430521:R1241H ENSP00000327077:R1240H R + 2 0 PCM1 17874252 0.837000 0.29446 1.000000 0.80357 0.087000 0.18053 0.636000 0.24644 0.776000 0.33473 -0.424000 0.05967 CGC TCGA-Z5-AAPL-01A-12D-A40W-08 PCM1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000374800.1 0 0 0 5 341 1 46 0 7.366289e-04 0 82 1 46 8 0 0 0 0 0 2 0 0.000351 5 341 1 46 23 -2.351312 0 1 120784 5 38 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.340000 0.120000 1.000000 0.290000 0.435849 0.340000 0 0.210000 0.690000 ERLIN2 11160 broad.mit.edu 37 8 37611540 37611540 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:37611540G>A ENST00000276461.5 + 12 994 c.927G>A c.(925-927)gcG>gcA p.A309A ERLIN2_ENST00000519638.1_Silent_p.A309A NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGACTCTGCGGGCAGTGTGA 0.458000 0 SO:0001819 synonymous_variant ENST00000276461.5 0 1 hg19 CCDS6095.1 TCGA-Z5-AAPL-01A-12D-A40W-08 ERLIN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376712.2 0 0 1 8 278 0 71 1 2.422494e-01 6 24 0 71 2 0 0 0 0 0 2 1 0.988865 8 273 0 70 2 -2.547914 1 1 121412 3 38 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.630000 0.280000 1.000000 1.000000 0.665130 0.630000 0 0.420000 1.000000 LRRCC1 85444 broad.mit.edu 37 8 86027758 86027758 + Missense_Mutation SNP A A T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr8:86027758A>T ENST00000360375.3 + 6 1018 c.869A>T c.(868-870)gAt>gTt p.D290V LRRCC1_ENST00000414626.2_Missense_Mutation_p.D270V NM_033402.4 NP_208325.3 Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 43 CATGAAAACGATTTGCAGAAT 0.343000 0 SO:0001583 missense ENST00000360375.3 0 1 hg19 CCDS43750.1 . . . . . . . . . . A 5.311 0.242664 0.10077 . . ENSG00000133739 ENST00000426019;ENST00000360375;ENST00000414626 T;T 0.34275 1.37;1.4 5.57 3.14 0.36123 . 1.203710 0.06173 N 0.678078 T 0.36580 0.0972 L 0.54323 1.7 0.09310 N 1 P;P;B 0.41188 0.741;0.573;0.011 B;B;B 0.41988 0.372;0.203;0.013 T 0.23868 -1.0176 10 0.49607 T 0.09 -5.7178 4.583 0.12267 0.7396:0.0:0.0908:0.1695 . 270;197;290 Q9C099-2;E9PE41;Q9C099 .;.;LRCC1_HUMAN V 197;290;270 ENSP00000353538:D290V;ENSP00000394695:D270V ENSP00000353538:D290V D + 2 0 LRRCC1 86215010 0.902000 0.30710 0.049000 0.19019 0.001000 0.01503 2.486000 0.45259 0.373000 0.24621 0.482000 0.46254 GAT TCGA-Z5-AAPL-01A-12D-A40W-08 LRRCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380267.1 0 0 0 5 163 0 53 0 7.039769e-02 1 11 0 53 2 0 0 0 0 0 2 1 0.938488 5 163 0 53 2 -3.720536 1 1 0 0 1 1 2 3 2.012571 0 0.100000 2 0.108470 0.690000 0.250000 1.000000 1.000000 0.705856 0.690000 0 0.430000 1.000000 VPS13A 23230 broad.mit.edu 37 9 79996923 79996923 + Nonsense_Mutation SNP C C T TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chr9:79996923C>T ENST00000360280.3 + 68 9369 c.9109C>T c.(9109-9111)Cga>Tga p.R3037* VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998* NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 104 GGAGAGTCTGCGACCTCCTCG 0.343000 0 GRCh37 CM011922 VPS13A M SO:0001587 stop_gained ENST00000360280.3 0 1 hg19 CCDS6655.1 . . . . . . . . . . C 51 17.370726 0.99885 0.0 1.16E-4 ENSG00000197969 ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409 . . . 5.33 5.33 0.75918 . 0.201597 0.44483 D 0.000456 . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.5934 0.88004 0.0:1.0:0.0:0.0 . . . . X 3037;2998;3037;3037 . . R + 1 2 VPS13A 79186743 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.663000 0.61532 2.494000 0.84150 0.585000 0.79938 CGA TCGA-Z5-AAPL-01A-12D-A40W-08 VPS13A-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000052753.2 0 0 0 6 294 0 77 0 4.996645e-02 0 15 0 77 2 0 0 0 0 0 2 1 0.964292 6 291 0 77 2 -2.680136 1 1 121412 2 29 1 0 0 0 1.970466 0 0.100000 2 0.080695 0.410000 0.170000 0.770000 0.370000 0.436401 0.410000 0 0.270000 0.590000 GPC3 2719 broad.mit.edu 37 X 132730547 132730547 + Silent SNP G G A TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:132730547G>A ENST00000370818.3 - 7 1939 c.1494C>T c.(1492-1494)tgC>tgT p.C498C GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 36 Acute lymphoblastic leukemia(192;0.000127) CATCATCACCGCAGTCTCCAC 0.463000 T, D, Mis, N, F, S Wilms tumour Simpson-Golabi-Behmel syndrome yes Rec/X Simpson-Golabi-Behmel syndrome X Xq26.1 2719 glypican 3 O 0 SO:0001819 synonymous_variant Familial Cancer Database SGBS ENST00000370818.3 0 1 hg19 CCDS14638.1 . . . . . . . . . . G 2.995 -0.207259 0.06180 . . ENSG00000147257 ENST00000406757 . . . 4.73 -9.46 0.00597 . . . . . T 0.72803 0.3506 . . . 0.48040 D 0.999576 . . . . . . T 0.82566 -0.0393 4 . . . . 22.4363 0.99971 0.2327:0.0:0.7673:0.0 . . . . V 228 . . A - 2 0 GPC3 132558213 0.000000 0.05858 0.008000 0.14137 0.665000 0.39181 -3.320000 0.00513 -3.839000 0.00100 -1.679000 0.00737 GCG TCGA-Z5-AAPL-01A-12D-A40W-08 GPC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058356.1 0 0 0 7 743 0 129 0 8.714832e-02 0 45 0 129 2 0 0 0 0 0 2 1 0.979603 7 733 0 128 2 -2.126687 0 1 121410 6 41 1 0 1 1 0.100000 2 0.100000 0.190000 0.080000 0.360000 0.180000 0.210200 0.190000 0 0.130000 0.280000 SPIN2B 474343 broad.mit.edu 37 X 57146293 57146293 + Missense_Mutation SNP T T G TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae17a1a1-399d-49a2-87da-1d577ce08d01 315533eb-4d79-48c5-956f-a9f82b36d5b8 g.chrX:57146293T>G ENST00000333933.3 - 2 1080 c.770A>C c.(769-771)aAg>aCg p.K257T SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T|SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|RP3-323P24.3_ENST00000439622.1_RNA NM_001006681.1 NP_001006682.1 Q9BPZ2 SPI2B_HUMAN spindlin family, member 2B 5 CAGTTAGGACTTTTTCACCAA 0.368000 0 SO:0001583 missense ENST00000333933.3 0 1 hg19 CCDS35311.1 . . . . . . . . . . . 0.005 -2.168787 0.00315 . . ENSG00000186787 ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933 T;T;T;T 0.47528 0.89;0.89;0.84;0.89 2.42 1.17 0.20885 . 0.157221 0.41500 D 0.000871 T 0.12305 0.0299 N 0.00926 -1.1 0.27097 N 0.962701 B 0.02656 0.0 B 0.01281 0.0 T 0.22243 -1.0222 10 0.07813 T 0.8 -1.1526 2.8319 0.05503 0.2596:0.0:0.2624:0.478 . 257 Q9BPZ2 SPI2B_HUMAN T 257;257;156;257 ENSP00000275988:K257T;ENSP00000364047:K257T;ENSP00000364045:K156T;ENSP00000335008:K257T ENSP00000275988:K257T K - 2 0 SPIN2B 57163018 1.000000 0.71417 0.920000 0.36463 0.473000 0.32948 4.655000 0.61476 0.241000 0.21283 0.143000 0.16000 AAG TCGA-Z5-AAPL-01A-12D-A40W-08 SPIN2B-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056912.1 0 0 0 8 346 0 101 1 4.077002e-03 2 2 0 101 2 0 0 0 0 0 2 1 0.939656 3 212 0 151 2 -3.206887 1 0 0 0 1 0 1 1 0.100000 2 0.100000 0.460000 0.220000 0.820000 0.440000 0.492367 0.460000 0 0.320000 0.640000