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 TP53 7157 broad.mit.edu 37 17 7578411 7578412 + In_Frame_Ins INS - - ACG TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 - ACG - - Valid Somatic Phase_I WXS targeted Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr17:7578411_7578412insACG ENST00000269305.4 - 5 707_708 c.518_519insCGT c.(517-519)gtg>gtCGTg p.173_173V>VV TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000420246.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV 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.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GGCAGCGCCTCACAACCTCCGT 0.658000 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 55 Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(8)|Deletion - In frame(5)|Insertion - Frameshift(1) SO:0001652 inframe_insertion Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 TCGA-HZ-8636-01A-21D-2396-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 85 316 0 45 0 1 0 136 0 45 2 1 1 166 739 0 45 2 1 1.000000 93 313 0 44 2 0 0 0 0 0 0 -3.551603 1 1 0 0 1 0 1 1 1.687130 1 0.410000 1.670000 0.257862 0.810000 0.660000 0.960000 0.820000 0.818659 0.810000 0 7.300000e-01 8.900000e-01 ATP9A 10079 broad.mit.edu 37 20 50238628 50238635 + Frame_Shift_Del DEL GATGTCTT GATGTCTT - TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 GATGTCTT - GATGTCTT GATGTCTT Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr20:50238628_50238635delGATGTCTT ENST00000338821.5 - 19 2357_2364 c.2093_2100delAAGACATC c.(2092-2100)caagacatcfs p.QDI698fs ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs|ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 48 GAAAAACGTGGATGTCTTGGTTTCTGGT 0.510000 0 SO:0001589 frameshift_variant ENST00000338821.5 1 1 hg19 CCDS33489.1 TCGA-HZ-8636-01A-21D-2396-08 ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106494.1 1 0 0 34 560 0 82 0 9.906996e-01 0 121 0 82 2 0 0 0 82 1 0.939960 41 565 1 79 24 0 0 0 0 0 0 -2.665561 1 1 0 0 1 0 1 1 1.949394 0 0.410000 1.670000 0.345608 0.240000 0.170000 0.340000 0.250000 0.257449 0.240000 0 2.000000e-01 3.000000e-01 SYT15 83849 broad.mit.edu 37 10 46965752 46965752 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr10:46965752C>T ENST00000374321.4 - 5 851 c.785G>A c.(784-786)cGt>cAt p.R262H SYT15_ENST00000374323.4_Missense_Mutation_p.R315H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H|SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA NM_031912.4 NP_114118.2 Q9BQS2 SYT15_HUMAN synaptotagmin XV 13 CCAGATGACACGCCGGCAGTC 0.607000 Ovarian(57;1152 1428 19651 37745) 0 SO:0001583 missense ENST00000374321.4 1 1 hg19 CCDS44376.1 . . . . . . . . . . . 6.785 0.513877 0.12944 . . ENSG00000204176 ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321 D;T;T;T;T 0.95272 -3.66;3.13;3.13;3.13;3.13 5.13 -5.29 0.02747 C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); 1.006260 0.07978 N 0.985110 D 0.83788 0.5330 N 0.12182 0.205 0.09310 N 1 B;B 0.13145 0.002;0.007 B;B 0.09377 0.002;0.004 T 0.71002 -0.4718 10 0.36615 T 0.2 . 3.5654 0.07897 0.1045:0.2315:0.1321:0.5319 . 262;262 Q9BQS2;Q9BQS2-2 SYT15_HUMAN;. H 262;52;262;262;101;315;262 ENSP00000363448:R52H;ENSP00000363445:R262H;ENSP00000427607:R262H;ENSP00000363443:R315H;ENSP00000363441:R262H ENSP00000363441:R262H R - 2 0 SYT15 46385758 0.000000 0.05858 0.000000 0.03702 0.096000 0.18686 -2.197000 0.01240 -0.739000 0.04809 -0.254000 0.11334 CGT TCGA-HZ-8636-01A-21D-2396-08 SYT15-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367008.1 1 0 1 28 251 0 64 0 0 0 1 0 64 2 0 0 0 0 64 2 1 1.000000 26 250 0 62 2 0 0 0 0 64 2 -3.318796 1 1 121130 16 36 1 0 0 0 2.029479 0 0.410000 1.670000 0.376783 0.460000 0.310000 0.630000 0.460000 0.473781 0.460000 0 3.800000e-01 5.500000e-01 CDHR1 92211 broad.mit.edu 37 10 85974118 85974118 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr10:85974118C>T ENST00000372117.3 + 17 2424 c.2321C>T c.(2320-2322)cCc>cTc p.P774L CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 36 GAGAAACCTCCCAATGAGAAC 0.617000 0 SO:0001583 missense ENST00000372117.3 0 1 hg19 CCDS7372.1 . . . . . . . . . . C 12.04 1.817901 0.32145 . . ENSG00000148600 ENST00000372117;ENST00000440770 T;T 0.55930 0.64;0.49 5.44 4.54 0.55810 . 1.112700 0.06432 N 0.724327 T 0.47525 0.1450 L 0.57536 1.79 0.34497 D 0.705606 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.002 T 0.47971 -0.9075 10 0.21540 T 0.41 -26.0702 5.1749 0.15129 0.1663:0.6647:0.0:0.169 . 478;774 E7EN47;Q96JP9 .;CDHR1_HUMAN L 774;478 ENSP00000361189:P774L;ENSP00000415980:P478L ENSP00000361189:P774L P + 2 0 CDHR1 85964098 0.576000 0.26700 0.971000 0.41717 0.773000 0.43773 2.688000 0.46984 1.308000 0.44962 0.561000 0.74099 CCC TCGA-HZ-8636-01A-21D-2396-08 CDHR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049111.1 0 0 0 11 590 0 79 0 0 0 0 79 2 0 0 0 0 79 2 1 0.998275 11 585 0 78 2 0 0 0 0 79 2 -2.817233 1 1 0 0 1 0 0 0 2.029479 0 0.410000 1.670000 0.376783 0.080000 0.030000 0.150000 0.090000 0.091654 0.080000 0 5.000000e-02 1.200000e-01 MUC5B 727897 broad.mit.edu 37 11 1250411 1250411 + Missense_Mutation SNP C C G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr11:1250411C>G ENST00000529681.1 + 9 1046 c.988C>G c.(988-990)Ccc>Gcc p.P330A MUC5B_ENST00000447027.1_Missense_Mutation_p.P330A|MUC5B_ENST00000531082.1_3'UTR NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) CCGGACCTGCCCCCTCAACAT 0.687000 0 SO:0001583 missense ENST00000529681.1 1 1 hg19 CCDS44515.2 . . . . . . . . . . C 6.296 0.422771 0.11928 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 D;D 0.91521 -2.86;-2.86 3.36 1.37 0.22104 Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2); . . . . D 0.94863 0.8340 M 0.90145 3.09 0.41081 D 0.985529 P;D;D 0.76494 0.892;0.999;0.999 P;D;D 0.69654 0.776;0.965;0.965 D 0.93936 0.7219 9 0.87932 D 0 . 9.0327 0.36269 0.0:0.8092:0.0:0.1908 . 330;986;330 Q9HC84;A7Y9J9;E9PBJ0 MUC5B_HUMAN;.;. A 330;330;330;363 ENSP00000436812:P330A;ENSP00000415793:P330A ENSP00000343037:P330A P + 1 0 MUC5B 1206987 1.000000 0.71417 0.469000 0.27204 0.138000 0.21146 2.905000 0.48727 0.620000 0.30215 0.205000 0.17691 CCC TCGA-HZ-8636-01A-21D-2396-08 MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 1 0 1 13 46 0 14 1 4.950115e-01 4 3 0 14 2 0 0 0 0 14 2 1 0.999670 13 44 0 14 2 0 0 0 0 14 2 -19.999990 1 1 0 0 1 0 1 1 1.929722 0 0.410000 1.670000 0.338083 0.940000 0.550000 1.000000 1.000000 0.890096 0.940000 1 7.300000e-01 1 MUC5B 727897 broad.mit.edu 37 11 1262417 1262417 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr11:1262417C>T ENST00000529681.1 + 31 4365 c.4307C>T c.(4306-4308)cCg>cTg p.P1436L MUC5B_ENST00000447027.1_Missense_Mutation_p.P1439L|RP11-532E4.2_ENST00000532061.2_RNA NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) GGCCCCTCCCCGGCCCCAGGC 0.662000 0 SO:0001583 missense ENST00000529681.1 0 1 hg19 CCDS44515.2 . . . . . . . . . . c 7.753 0.703670 0.15172 . . ENSG00000117983 ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844 T;T 0.17054 2.3;2.5 4.28 0.654 0.17833 . . . . . T 0.09202 0.0227 N 0.12182 0.205 0.09310 N 1 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.001 T 0.30504 -0.9976 9 0.87932 D 0 . 6.5043 0.22186 0.1219:0.5936:0.0:0.2846 . 2129;1439 A7Y9J9;E9PBJ0 .;. L 1436;1439;1437;1506 ENSP00000436812:P1436L;ENSP00000415793:P1439L ENSP00000343037:P1437L P + 2 0 MUC5B 1218993 0.000000 0.05858 0.000000 0.03702 0.017000 0.09413 0.004000 0.13106 -0.519000 0.06444 -1.615000 0.00797 CCG TCGA-HZ-8636-01A-21D-2396-08 MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000390041.2 1 0 1 10 35 0 9 0 5.754112e-01 1 7 0 9 2 0 0 0 0 9 2 1 0.997420 10 33 0 9 2 0 0 0 0 9 2 -19.827010 1 1 120490 7 30 1 0 1 1 1.929722 0 0.410000 1.670000 0.338083 0.940000 0.510000 1.000000 1.000000 0.881879 0.940000 1 7.100000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-HZ-8636-01A-21D-2396-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 29 75 0 9 1 9.999982e-01 31 32 0 9 2 1 1 124 360 0 9 2 1 1.000000 29 74 0 8 2 1 1 2968 5046 0 9 2 -19.999920 1 1 0 0 1 2 4 6 2.641319 1 0.410000 1.670000 0.520169 0.990000 0.990000 1.000000 1.000000 0.999914 0.990000 1 9.900000e-01 1 ATP12A 479 broad.mit.edu 37 13 25263488 25263488 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr13:25263488C>T ENST00000381946.3 + 5 688 c.521C>T c.(520-522)tCc>tTc p.S174F ATP12A_ENST00000218548.6_Missense_Mutation_p.S174F P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 74 Lung SC(185;0.0225)|Breast(139;0.077) AACATCATGTCCAGCTTCAAT 0.537000 Pancreas(156;1582 1935 18898 22665 26498) 0 SO:0001583 missense ENST00000381946.3 1 1 hg19 CCDS31948.1 . . . . . . . . . . C 16.33 3.091802 0.55968 . . ENSG00000075673 ENST00000218548;ENST00000381946 D;D 0.89050 -2.46;-2.46 5.14 5.14 0.70334 ATPase, P-type, ATPase-associated domain (1);ATPase, P-type, cytoplasmic transduction domain A (1); 0.320771 0.30101 N 0.010404 D 0.89431 0.6713 M 0.64404 1.975 0.28626 N 0.907899 P;P 0.37612 0.531;0.602 B;B 0.42282 0.382;0.378 D 0.87031 0.2135 10 0.87932 D 0 . 16.1375 0.81497 0.0:1.0:0.0:0.0 . 174;174 P54707-2;P54707 .;AT12A_HUMAN F 174 ENSP00000218548:S174F;ENSP00000371372:S174F ENSP00000218548:S174F S + 2 0 ATP12A 24161488 0.998000 0.40836 1.000000 0.80357 0.960000 0.62799 3.379000 0.52440 2.680000 0.91292 0.561000 0.74099 TCC TCGA-HZ-8636-01A-21D-2396-08 ATP12A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044199.1 1 0 0 15 324 0 64 0 0 0 0 64 2 0 0 0 0 64 2 1 0.999872 15 321 0 64 2 0 0 0 0 64 2 -3.964014 1 1 0 0 1 0 1 1 1.674578 1 0.410000 1.670000 0.257862 0.170000 0.090000 0.270000 0.170000 0.180415 0.170000 0 1.300000e-01 2.200000e-01 OSGEP 55644 broad.mit.edu 37 14 20916117 20916117 + Nonsense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr14:20916117G>A ENST00000206542.4 - 8 1160 c.739C>T c.(739-741)Cga>Tga p.R247* OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*|OSGEP_ENST00000555656.1_Nonsense_Mutation_p.R48* NM_017807.3 NP_060277.1 O-sialoglycoprotein endopeptidase 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GCCATGGCTCGCTCTGTGATC 0.453000 0 SO:0001587 stop_gained ENST00000206542.4 0 1 hg19 CCDS9549.1 . . . . . . . . . . G 38 7.251523 0.98164 . . ENSG00000092094 ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785 . . . 4.71 4.71 0.59529 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -5.4092 16.4221 0.83766 0.0:0.0:1.0:0.0 . . . . X 48;247;65;65;48 . ENSP00000206542:R247X R - 1 2 OSGEP 19985957 1.000000 0.71417 1.000000 0.80357 0.912000 0.54170 2.358000 0.44134 2.141000 0.66446 0.455000 0.32223 CGA TCGA-HZ-8636-01A-21D-2396-08 OSGEP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073635.3 1 0 0 33 578 1 111 0 5.844350e-01 1 111 1 111 6 0 0 0 1 111 2 1 0.987000 33 566 1 111 18 0 0 0 1 111 2 -5.604061 1 1 121412 2 38 1 1 2 3 2.222707 0 0.410000 1.670000 0.420688 0.270000 0.180000 1.000000 0.270000 0.327656 0.270000 0 2.200000e-01 3.400000e-01 STRN3 29966 broad.mit.edu 37 14 31404475 31404475 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr14:31404475G>A ENST00000357479.5 - 7 1078 c.882C>T c.(880-882)gaC>gaT p.D294D STRN3_ENST00000366206.2_5'Flank|STRN3_ENST00000355683.5_Silent_p.D294D NM_001083893.1 NP_001077362.1 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) TATCAGGATCGTCAGTTAGGT 0.398000 0 SO:0001819 synonymous_variant ENST00000357479.5 1 1 hg19 CCDS41938.1 . . . . . . . . . . G 8.536 0.872216 0.17322 . . ENSG00000196792 ENST00000556577 . . . 5.68 0.861 0.19048 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -23.6586 8.8975 0.35474 0.71:0.0:0.29:0.0 . . . . X 55 . . R - 1 2 STRN3 30474226 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 1.139000 0.31504 0.117000 0.18138 -0.367000 0.07326 CGA TCGA-HZ-8636-01A-21D-2396-08 STRN3-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409713.1 0 0 1 107 317 1 69 1 9.998198e-01 17 53 1 69 6 0 0 0 1 69 2 1 1.000000 106 310 1 68 20 0 0 0 1 69 2 -20.000000 1 1 121412 2 31 1 1 2 3 2.222707 0 0.410000 1.670000 0.420688 0.990000 0.990000 1.000000 1.000000 0.999852 0.990000 1 9.900000e-01 1 OTX2 5015 broad.mit.edu 37 14 57268475 57268475 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr14:57268475G>A ENST00000555006.1 - 4 1256 c.848C>T c.(847-849)tCg>tTg p.S283L OTX2_ENST00000339475.5_Missense_Mutation_p.S291L|OTX2_ENST00000408990.3_Missense_Mutation_p.S283L|RP11-1085N6.6_ENST00000602485.1_lincRNA P32243 OTX2_HUMAN orthodenticle homeobox 2 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) GAATTTCCACGAGGATGTCTG 0.408000 0 SO:0001583 missense ENST00000555006.1 1 1 hg19 CCDS41960.1 . . . . . . . . . . G 13.64 2.296371 0.40594 . . ENSG00000165588 ENST00000339475;ENST00000408990;ENST00000555006 D;D;D 0.93712 -3.27;-3.26;-3.26 5.65 3.84 0.44239 . 0.605732 0.13764 N 0.364391 D 0.92506 0.7620 M 0.84219 2.685 0.80722 D 1 P;P 0.51537 0.946;0.838 B;B 0.39258 0.295;0.283 D 0.91171 0.4968 10 0.72032 D 0.01 . 11.382 0.49763 0.1438:0.0:0.8562:0.0 . 291;283 F1T0D1;P32243 .;OTX2_HUMAN L 291;283;283 ENSP00000343819:S291L;ENSP00000386185:S283L;ENSP00000452336:S283L ENSP00000343819:S291L S - 2 0 OTX2 56338228 1.000000 0.71417 0.762000 0.31397 0.989000 0.77384 9.501000 0.97979 0.949000 0.37715 0.655000 0.94253 TCG TCGA-HZ-8636-01A-21D-2396-08 OTX2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411522.1 0 0 1 89 369 1 55 0 0 0 1 55 2 0 0 0 1 55 2 1 1.000000 89 367 1 55 25 0 0 0 1 55 2 -2.937433 1 1 121412 1 35 1 1 2 3 2.222707 0 0.410000 1.670000 0.420688 0.970000 0.790000 1.000000 1.000000 0.949542 0.970000 1 8.700000e-01 1 RYR3 6263 broad.mit.edu 37 15 34102719 34102719 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:34102719C>T ENST00000389232.4 + 71 10136 c.10066C>T c.(10066-10068)Cgg>Tgg p.R3356W RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 311 all_lung(180;7.18e-09) GACAAAGCGGCGGGGAGACTT 0.512000 0 SO:0001583 missense ENST00000389232.4 1 1 hg19 CCDS45210.1 . . . . . . . . . . C 17.72 3.458025 0.63401 . . ENSG00000198838 ENST00000389232;ENST00000415757;ENST00000361728 T 0.68025 -0.3 5.15 2.81 0.32909 . 0.000000 0.85682 D 0.000000 T 0.81153 0.4763 M 0.83603 2.65 0.54753 D 0.999981 D;D 0.89917 1.0;1.0 D;D 0.81914 0.995;0.982 T 0.82230 -0.0560 10 0.87932 D 0 . 12.2165 0.54410 0.5396:0.4604:0.0:0.0 . 3351;3356 Q15413-2;Q15413 .;RYR3_HUMAN W 3356;3356;3351 ENSP00000373884:R3356W ENSP00000354735:R3351W R + 1 2 RYR3 31890011 0.946000 0.32159 1.000000 0.80357 0.726000 0.41606 2.244000 0.43124 0.419000 0.25927 -0.397000 0.06425 CGG TCGA-HZ-8636-01A-21D-2396-08 RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417514.1 1 0 1 56 176 0 30 0 0 0 0 30 2 0 0 0 0 30 2 1 1.000000 56 168 0 29 2 0 0 0 0 30 2 -3.949679 1 1 120846 1 28 1 0 1 1 1.911035 1 0.410000 1.670000 0.319296 0.990000 0.790000 1.000000 1.000000 0.962883 0.990000 1 8.900000e-01 1 DLL4 54567 broad.mit.edu 37 15 41224371 41224371 + Missense_Mutation SNP A A T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:41224371A>T ENST00000249749.5 + 5 937 c.661A>T c.(661-663)Atc>Ttc p.I221F NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) TCCCTTAGCTATCTGTCTTTC 0.577000 0 SO:0001583 missense ENST00000249749.5 1 1 hg19 CCDS45232.1 . . . . . . . . . . A 16.91 3.252334 0.59212 . . ENSG00000128917 ENST00000249749 T 0.66815 -0.23 5.74 -1.63 0.08345 Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.186750 0.56097 D 0.000028 T 0.65749 0.2721 M 0.86953 2.85 0.36665 D 0.878153 B 0.30179 0.271 B 0.24701 0.055 T 0.67902 -0.5550 10 0.87932 D 0 . 12.0444 0.53471 0.758:0.0:0.242:0.0 . 221 Q9NR61 DLL4_HUMAN F 221 ENSP00000249749:I221F ENSP00000249749:I221F I + 1 0 DLL4 39011663 0.835000 0.29415 0.968000 0.41197 0.989000 0.77384 0.957000 0.29215 -0.286000 0.09076 0.533000 0.62120 ATC TCGA-HZ-8636-01A-21D-2396-08 DLL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418859.1 1 0 0 10 243 0 65 0 4.655933e-01 0 37 0 65 2 0 0 0 0 65 2 1 0.996796 10 239 0 65 2 0 0 0 0 65 2 -11.927010 1 1 0 0 1 0 1 1 1.911035 1 0.410000 1.670000 0.319296 0.170000 0.080000 0.290000 0.160000 0.180856 0.170000 0 1.200000e-01 2.300000e-01 TLN2 83660 broad.mit.edu 37 15 63089584 63089584 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:63089584G>A ENST00000561311.1 + 47 6447 c.6217G>A c.(6217-6219)Gac>Aac p.D2073N TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N Q9Y4G6 TLN2_HUMAN talin 2 99 CCTGGGCTCCGACGACCCCGA 0.672000 0 SO:0001583 missense ENST00000561311.1 0 1 hg19 CCDS32261.1 . . . . . . . . . . G 9.079 0.998848 0.19121 . . ENSG00000171914 ENST00000306829 T 0.13196 2.61 5.91 0.627 0.17675 . 0.291923 0.41938 N 0.000789 T 0.08582 0.0213 L 0.28115 0.83 0.42219 D 0.991842 B 0.22080 0.064 B 0.14578 0.011 T 0.29088 -1.0023 10 0.29301 T 0.29 -4.2882 10.025 0.42066 0.3442:0.0:0.6558:0.0 . 2073 Q9Y4G6 TLN2_HUMAN N 2073 ENSP00000303476:D2073N ENSP00000303476:D2073N D + 1 0 TLN2 60876637 1.000000 0.71417 0.002000 0.10522 0.333000 0.28666 4.144000 0.58057 -0.130000 0.11599 -0.982000 0.02568 GAC TCGA-HZ-8636-01A-21D-2396-08 TLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257878.2 1 0 0 14 262 0 34 0 1.559849e-01 0 13 0 34 2 0 0 0 0 34 2 1 0.999757 14 259 0 34 2 0 0 0 0 34 2 -16.315840 1 1 121338 9 37 1 0 1 1 1.961557 1 0.410000 1.670000 0.316061 0.210000 0.120000 0.340000 0.210000 0.225280 0.210000 0 1.600000e-01 2.800000e-01 IGDCC4 57722 broad.mit.edu 37 15 65703590 65703590 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:65703590G>A ENST00000352385.2 - 2 398 c.189C>T c.(187-189)gcC>gcT p.A63A NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 44 GGGGTCCAGCGGCAGCAGCCC 0.642000 0 SO:0001819 synonymous_variant ENST00000352385.2 1 1 hg19 CCDS10206.1 TCGA-HZ-8636-01A-21D-2396-08 IGDCC4-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000256825.2 1 0 0 14 200 0 35 0 6.224334e-02 0 6 0 35 2 0 0 0 0 35 2 1 0.999770 13 199 0 34 2 0 0 0 0 35 2 -17.874960 1 1 121410 2 30 1 0 1 1 1.961557 1 0.410000 1.670000 0.316061 0.270000 0.150000 0.430000 0.270000 0.289285 0.270000 0 2.100000e-01 3.600000e-01 HCN4 10021 broad.mit.edu 37 15 73614835 73614835 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:73614835G>A ENST00000261917.3 - 8 4592 c.3599C>T c.(3598-3600)cCa>cTa p.P1200L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 55 TAGATTGGATGGCAGTTTGGA 0.542000 0 SO:0001583 missense ENST00000261917.3 0 1 hg19 CCDS10248.1 . . . . . . . . . . G 14.84 2.655637 0.47467 . . ENSG00000138622 ENST00000261917 D 0.99436 -5.9 3.52 2.57 0.30868 . . . . . D 0.98520 0.9506 L 0.43152 1.355 0.58432 D 0.999999 D 0.60160 0.987 P 0.51516 0.672 D 0.97417 1.0006 9 0.87932 D 0 . 10.8488 0.46759 0.0:0.1926:0.8073:0.0 . 1200 Q9Y3Q4 HCN4_HUMAN L 1200 ENSP00000261917:P1200L ENSP00000261917:P1200L P - 2 0 HCN4 71401888 1.000000 0.71417 0.996000 0.52242 0.454000 0.32378 8.203000 0.89739 0.550000 0.28991 0.305000 0.20034 CCA TCGA-HZ-8636-01A-21D-2396-08 HCN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268900.2 0 0 1 4 44 0 10 0 1.176471e-02 0 2 0 10 2 0 0 0 0 10 2 1 0.893223 4 44 0 10 2 0 0 0 0 10 2 -8.971758 1 1 121004 8 32 1 0 1 1 1.970624 1 0.410000 1.670000 0.325676 0.380000 0.130000 0.760000 0.340000 0.408519 0.380000 0 2.300000e-01 5.700000e-01 HCN4 10021 broad.mit.edu 37 15 73615826 73615826 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr15:73615826C>T ENST00000261917.3 - 8 3601 c.2608G>A c.(2608-2610)Gga>Aga p.G870R NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 55 GGGCTCAGTCCAGCGGGGGCA 0.697000 0 SO:0001583 missense ENST00000261917.3 1 1 hg19 CCDS10248.1 . . . . . . . . . . C 9.866 1.197648 0.22037 . . ENSG00000138622 ENST00000261917 T 0.78003 -1.14 3.21 3.21 0.36854 . . . . . T 0.78710 0.4326 L 0.36672 1.1 0.41256 D 0.986742 D 0.71674 0.998 D 0.64042 0.921 T 0.76293 -0.3012 9 0.35671 T 0.21 . 10.0634 0.42288 0.2012:0.7988:0.0:0.0 . 870 Q9Y3Q4 HCN4_HUMAN R 870 ENSP00000261917:G870R ENSP00000261917:G870R G - 1 0 HCN4 71402879 0.140000 0.22579 0.787000 0.31911 0.879000 0.50718 1.447000 0.35101 1.608000 0.50180 0.448000 0.29417 GGA TCGA-HZ-8636-01A-21D-2396-08 HCN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268900.2 1 0 0 10 243 0 27 0 0 0 1 0 27 2 0 0 0 0 27 2 1 0.996796 9 240 0 26 2 0 0 0 0 27 2 -11.728630 1 1 0 0 1 0 1 1 1.970624 1 0.410000 1.670000 0.325676 0.170000 0.080000 0.290000 0.170000 0.182611 0.170000 0 1.200000e-01 2.300000e-01 GPRC5B 51704 broad.mit.edu 37 16 19883726 19883726 + Missense_Mutation SNP G G A rs149830893 by1000genomes TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr16:19883726G>A ENST00000300571.2 - 2 633 c.442C>T c.(442-444)Cgg>Tgg p.R148W GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, class C, group 5, member B 25 ACCAGCCTCCGCACGCGCCAT 0.677000 0 SO:0001583 missense ENST00000300571.2 1 1 hg19 CCDS10581.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 23.0 4.360599 0.82353 2.28E-4 0.0 ENSG00000167191 ENST00000300571;ENST00000535671;ENST00000537135 D;D;D 0.88124 -2.34;-2.34;-2.34 5.27 4.31 0.51392 GPCR, family 3, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.90844 0.7124 L 0.52364 1.645 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.994;0.998 D 0.90235 0.4282 9 . . . . 14.4869 0.67624 0.0:0.0:0.8522:0.1478 . 174;148 B7Z831;Q9NZH0 .;GPC5B_HUMAN W 148;148;174 ENSP00000300571:R148W;ENSP00000442858:R148W;ENSP00000441775:R174W . R - 1 2 GPRC5B 19791227 0.997000 0.39634 0.859000 0.33776 0.948000 0.59901 4.463000 0.60128 1.445000 0.47624 0.650000 0.86243 CGG TCGA-HZ-8636-01A-21D-2396-08 GPRC5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254285.1 1 0 0 11 271 0 28 0 7.342855e-01 0 65 0 28 2 0 0 0 0 28 2 1 0.998222 11 265 0 28 2 0 0 0 0 28 2 -3.387955 1 1 121338 7 39 1 1 2 3 2.190921 0 0.410000 1.670000 0.417169 0.200000 0.100000 1.000000 0.190000 0.244835 0.200000 0 1.400000e-01 2.800000e-01 GNAO1 2775 broad.mit.edu 37 16 56362667 56362667 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr16:56362667G>A ENST00000262493.6 + 4 1274 c.428G>A c.(427-429)cGg>cAg p.R143Q GNAO1_ENST00000262494.7_Missense_Mutation_p.R143Q NM_020988.2 NP_066268.1 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 17 all_neural(199;0.159) TGCTTCAACCGGTCCCGGGAG 0.607000 0 SO:0001583 missense ENST00000262493.6 1 1 hg19 CCDS10756.1 . . . . . . . . . . G 35 5.486569 0.96323 . . ENSG00000087258 ENST00000262493;ENST00000262494 D;D 0.90133 -2.62;-2.62 4.95 4.95 0.65309 G protein alpha subunit, helical insertion (2); 0.000000 0.85682 D 0.000000 D 0.96182 0.8755 M 0.89601 3.045 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.72075 0.976;0.96 D 0.97114 0.9806 10 0.87932 D 0 . 18.1807 0.89777 0.0:0.0:1.0:0.0 . 143;143 P09471;P09471-2 GNAO_HUMAN;. Q 143 ENSP00000262493:R143Q;ENSP00000262494:R143Q ENSP00000262493:R143Q R + 2 0 GNAO1 54920168 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.869000 0.99810 2.276000 0.75962 0.462000 0.41574 CGG TCGA-HZ-8636-01A-21D-2396-08 GNAO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256981.2 1 0 1 80 259 0 41 0 9.560853e-01 0 19 0 41 2 0 0 0 0 41 2 1 1.000000 79 256 0 41 2 0 0 0 0 41 2 -4.547234 1 1 121412 2 31 1 1 2 3 2.183221 0 0.410000 1.670000 0.415986 0.990000 0.940000 1.000000 1.000000 0.997042 0.990000 1 9.900000e-01 1 BANP 54971 broad.mit.edu 37 16 88066732 88066732 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr16:88066732C>T ENST00000393207.1 + 9 1278 c.1057C>T c.(1057-1059)Cca>Tca p.P353S BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000355022.4_Missense_Mutation_p.P322S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 12 GATGAGCACCCCACCTCCTGC 0.647000 0 SO:0001583 missense ENST00000393207.1 0 1 hg19 CCDS54054.1 . . . . . . . . . . C 7.093 0.572586 0.13623 . . ENSG00000172530 ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207 . . . 4.28 1.91 0.25777 . 0.524714 0.20730 N 0.086739 T 0.34106 0.0886 N 0.19112 0.55 0.28197 N 0.927508 B;B;B;D;B;B 0.76494 0.02;0.042;0.001;0.999;0.002;0.359 B;B;B;D;B;B 0.79784 0.024;0.08;0.001;0.993;0.002;0.167 T 0.17776 -1.0358 9 0.09590 T 0.72 . 6.988 0.24739 0.1477:0.4406:0.4117:0.0 . 361;328;322;353;322;322 B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4 .;.;.;BANP_HUMAN;.;. S 353;328;318;322;322;322;322;361;353 . ENSP00000286122:P353S P + 1 0 BANP 86624233 0.387000 0.25188 0.864000 0.33941 0.030000 0.12068 1.150000 0.31639 0.894000 0.36317 0.305000 0.20034 CCA TCGA-HZ-8636-01A-21D-2396-08 BANP-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000269166.1 1 0 0 13 195 0 19 0 7.620167e-01 1 41 0 19 2 0 0 0 0 19 2 1 0.999480 11 190 0 19 2 0 0 0 0 19 2 -3.320787 1 1 0 0 1 1 2 3 2.183221 0 0.410000 1.670000 0.415986 0.310000 0.170000 1.000000 0.310000 0.351914 0.310000 0 2.300000e-01 4.200000e-01 BZRAP1 9256 broad.mit.edu 37 17 56390036 56390036 + Missense_Mutation SNP C C G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr17:56390036C>G ENST00000343736.4 - 17 2309 c.2146G>C c.(2146-2148)Gag>Cag p.E716Q BZRAP1_ENST00000355701.3_Missense_Mutation_p.E716Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E656Q O95153 RIMB1_HUMAN benzodiazepine receptor (peripheral) associated protein 1 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GACACACGCTCTACAAAATTG 0.592000 0 SO:0001583 missense ENST00000343736.4 1 1 hg19 CCDS11605.1 . . . . . . . . . . C 27.4 4.825303 0.90955 . . ENSG00000005379 ENST00000355701;ENST00000343736;ENST00000268893 T;T;T 0.35973 1.28;1.28;1.28 5.67 5.67 0.87782 Src homology-3 domain (3);Variant SH3 (1); 0.000000 0.85682 D 0.000000 T 0.56601 0.1996 L 0.50993 1.605 0.80722 D 1 D;D;D 0.76494 0.996;0.999;0.999 D;D;D 0.91635 0.993;0.999;0.996 T 0.52313 -0.8592 10 0.48119 T 0.1 . 18.7443 0.91787 0.0:1.0:0.0:0.0 . 716;656;716 B7ZVZ7;O95153-2;O95153 .;.;RIMB1_HUMAN Q 716;716;656 ENSP00000347929:E716Q;ENSP00000345824:E716Q;ENSP00000268893:E656Q ENSP00000268893:E656Q E - 1 0 BZRAP1 53745035 1.000000 0.71417 1.000000 0.80357 0.867000 0.49689 7.818000 0.86416 2.677000 0.91161 0.462000 0.41574 GAG TCGA-HZ-8636-01A-21D-2396-08 BZRAP1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000443980.1 1 0 1 21 211 0 39 1 5.077194e-01 2 16 0 39 2 0 0 0 0 39 2 1 0.999997 20 206 0 38 2 0 0 0 0 39 2 -2.966614 1 1 0 0 1 0 1 1 1.739719 1 0.410000 1.670000 0.257862 0.340000 0.220000 0.500000 0.350000 0.360096 0.340000 0 2.800000e-01 4.300000e-01 NEURL4 84461 broad.mit.edu 37 17 7225225 7225225 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr17:7225225C>T ENST00000399464.2 - 17 2845 c.2830G>A c.(2830-2832)Gtc>Atc p.V944I NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I NM_032442.2 NP_115818.2 Q96JN8 NEUL4_HUMAN neuralized E3 ubiquitin protein ligase 4 34 GTACTGAAGACAAGGCCATGA 0.587000 0 SO:0001583 missense ENST00000399464.2 1 1 hg19 CCDS42251.1 . . . . . . . . . . C 31 5.070973 0.93950 . . ENSG00000215041 ENST00000315614;ENST00000399464 T;T 0.41065 1.02;1.01 5.87 5.87 0.94306 NEUZ (3); 0.000000 0.85682 D 0.000000 T 0.65923 0.2738 M 0.76002 2.32 0.50039 D 0.999849 D;D 0.63046 0.99;0.992 D;D 0.77004 0.98;0.989 T 0.64820 -0.6317 10 0.49607 T 0.09 -27.2431 17.7017 0.88296 0.0:1.0:0.0:0.0 . 942;944 Q96JN8-2;Q96JN8 .;NEUL4_HUMAN I 942;944 ENSP00000319826:V942I;ENSP00000382390:V944I ENSP00000319826:V942I V - 1 0 NEURL4 7165949 0.999000 0.42202 0.975000 0.42487 0.983000 0.72400 4.024000 0.57218 2.781000 0.95711 0.655000 0.94253 GTC TCGA-HZ-8636-01A-21D-2396-08 NEURL4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255434.2 1 0 0 20 299 0 61 1 6.760828e-01 2 34 0 61 2 0 0 0 0 61 2 1 0.999995 20 294 0 61 2 0 0 0 0 61 2 -19.999660 1 1 0 0 1 0 1 1 1.687130 1 0.410000 1.670000 0.257862 0.240000 0.150000 0.360000 0.240000 0.251417 0.240000 0 1.900000e-01 3.000000e-01 OTOP3 347741 broad.mit.edu 37 17 72943167 72943167 + Missense_Mutation SNP C C T rs145029319 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr17:72943167C>T ENST00000328801.4 + 6 1217 c.1217C>T c.(1216-1218)aCg>aTg p.T406M NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 23 all_lung(278;0.151)|Lung NSC(278;0.185) GAGCTGGACACGGTCAAGAAC 0.607000 0 SO:0001583 missense ENST00000328801.4 1 1 hg19 CCDS11709.1 . . . . . . . . . . C 13.10 2.136971 0.37728 0.0 1.16E-4 ENSG00000182938 ENST00000328801 T 0.23147 1.92 4.54 3.56 0.40772 . 0.323633 0.28712 N 0.014395 T 0.43919 0.1269 M 0.68317 2.08 0.32154 N 0.58386 D 0.89917 1.0 D 0.79108 0.992 T 0.53774 -0.8391 10 0.59425 D 0.04 -16.305 7.4753 0.27371 0.1649:0.7493:0.0:0.0858 . 406 Q7RTS5 OTOP3_HUMAN M 406 ENSP00000328090:T406M ENSP00000328090:T406M T + 2 0 OTOP3 70454762 0.281000 0.24258 0.978000 0.43139 0.696000 0.40369 0.869000 0.27996 0.891000 0.36235 0.462000 0.41574 ACG TCGA-HZ-8636-01A-21D-2396-08 OTOP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445308.1 1 0 1 33 279 0 52 0 0 0 0 52 2 0 0 0 0 52 2 1 1.000000 32 275 0 51 2 0 0 0 0 52 2 -12.919130 1 1 121412 1 36 1 0 2 2 1.916573 1 0.410000 1.670000 0.410000 0.520000 0.360000 1.000000 0.520000 0.571597 0.520000 0 4.400000e-01 6.600000e-01 SALL3 27164 broad.mit.edu 37 18 76754689 76754689 + Missense_Mutation SNP T T G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr18:76754689T>G ENST00000537592.2 + 2 2698 c.2698T>G c.(2698-2700)Tcg>Gcg p.S900A SALL3_ENST00000536229.3_Missense_Mutation_p.S767A|SALL3_ENST00000575389.2_Missense_Mutation_p.S900A NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) GTCCGAGTCCTCGTCCTCGCA 0.731000 0 SO:0001583 missense ENST00000537592.2 0 1 hg19 CCDS12013.1 . . . . . . . . . . T 10.81 1.454670 0.26161 . . ENSG00000256463 ENST00000537592;ENST00000536229;ENST00000543056 T 0.08807 3.05 5.43 4.24 0.50183 . 0.000000 0.52532 D 0.000061 T 0.07279 0.0184 L 0.41824 1.3 0.53005 D 0.999964 B;P 0.41313 0.323;0.745 B;B 0.34931 0.19;0.192 T 0.36744 -0.9735 10 0.27785 T 0.31 -19.7823 12.4369 0.55604 0.0:0.0:0.1403:0.8597 . 632;900 F5GXY4;Q9BXA9 .;SALL3_HUMAN A 900;900;632 ENSP00000441823:S900A ENSP00000299466:S900A S + 1 0 SALL3 74855677 1.000000 0.71417 0.145000 0.22337 0.940000 0.58332 3.924000 0.56476 0.867000 0.35654 0.459000 0.35465 TCG TCGA-HZ-8636-01A-21D-2396-08 SALL3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256397.1 0 0 0 5 182 0 19 0 0 0 0 19 2 0 0 0 0 19 2 1 0.917802 5 162 0 19 2 0 0 0 0 19 2 -7.544553 1 1 117834 1 31 1 0.410000 1.670000 0 0 SALL3 27164 broad.mit.edu 37 18 76754690 76754690 + Nonsense_Mutation SNP C C A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr18:76754690C>A ENST00000537592.2 + 2 2699 c.2699C>A c.(2698-2700)tCg>tAg p.S900* SALL3_ENST00000536229.3_Nonsense_Mutation_p.S767*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900* NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) TCCGAGTCCTCGTCCTCGCAG 0.731000 0 SO:0001587 stop_gained ENST00000537592.2 0 1 hg19 CCDS12013.1 . . . . . . . . . . C 47 13.299157 0.99733 . . ENSG00000256463 ENST00000537592;ENST00000536229;ENST00000543056 . . . 5.43 4.54 0.55810 . 0.000000 0.52532 D 0.000061 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.07482 T 0.82 -19.7823 15.3889 0.74726 0.1403:0.8597:0.0:0.0 . . . . X 900;900;632 . ENSP00000299466:S900X S + 2 0 SALL3 74855678 1.000000 0.71417 0.146000 0.22360 0.920000 0.55202 4.704000 0.61831 1.251000 0.43983 0.561000 0.74099 TCG TCGA-HZ-8636-01A-21D-2396-08 SALL3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256397.1 0 0 0 5 180 0 19 0 0 0 0 19 2 0 0 0 0 19 2 1 0.922295 5 164 0 19 2 0 0 0 0 19 2 -3.607852 1 1 117818 1 36 1 0.410000 1.670000 0 0 ATP4A 495 broad.mit.edu 37 19 36050774 36050774 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr19:36050774C>T ENST00000262623.3 - 7 1017 c.989G>A c.(988-990)cGg>cAg p.R330Q NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129) GACCATGGCCCGCAGGAAGGT 0.582000 0 SO:0001583 missense ENST00000262623.3 1 1 hg19 CCDS12467.1 . . . . . . . . . . C 17.02 3.282969 0.59867 . . ENSG00000105675 ENST00000262623 D 0.88354 -2.37 3.83 3.83 0.44106 ATPase, P-type, ATPase-associated domain (1); 0.181592 0.34223 N 0.004155 T 0.79203 0.4406 N 0.10874 0.06 0.36501 D 0.869005 B 0.27264 0.173 B 0.29716 0.106 T 0.80504 -0.1353 10 0.40728 T 0.16 . 13.5911 0.61961 0.0:1.0:0.0:0.0 . 330 P20648 ATP4A_HUMAN Q 330 ENSP00000262623:R330Q ENSP00000262623:R330Q R - 2 0 ATP4A 40742614 0.048000 0.20356 1.000000 0.80357 0.997000 0.91878 2.051000 0.41307 2.146000 0.66826 0.561000 0.74099 CGG TCGA-HZ-8636-01A-21D-2396-08 ATP4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109470.2 1 0 1 54 207 0 56 0 0 0 0 56 2 0 0 0 0 56 2 1 1.000000 53 205 0 55 2 0 0 0 0 56 2 -3.510310 1 1 0 0 1 0 1 1 2.098773 0 0.410000 1.670000 0.388696 0.960000 0.750000 1.000000 1.000000 0.941553 0.960000 1 8.500000e-01 1 ZNF628 89887 broad.mit.edu 37 19 55993096 55993096 + Missense_Mutation SNP G G C TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr19:55993096G>C ENST00000598519.1 + 3 1089 c.536G>C c.(535-537)gGa>gCa p.G179A ZNF628_ENST00000391718.2_Missense_Mutation_p.G175A Q5EBL2 ZN628_HUMAN zinc finger protein 628 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) TACACCTGTGGAGTCTGCGGG 0.711000 0 SO:0001583 missense ENST00000598519.1 1 1 hg19 CCDS33116.3 . . . . . . . . . . . 5.185 0.219611 0.09863 . . ENSG00000197483 ENST00000391718 T 0.07114 3.22 3.62 2.54 0.30619 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.308416 0.22071 U 0.065039 T 0.06096 0.0158 L 0.31157 0.91 0.09310 N 1 B 0.16603 0.018 B 0.16289 0.015 T 0.38779 -0.9645 10 0.20046 T 0.44 -4.2285 9.8863 0.41264 0.0:0.4083:0.5917:0.0 . 175 Q5EBL2 ZN628_HUMAN A 175 ENSP00000375598:G175A ENSP00000375598:G175A G + 2 0 ZNF628 60684908 0.003000 0.15002 0.064000 0.19789 0.009000 0.06853 1.406000 0.34646 0.845000 0.35118 0.484000 0.47621 GGA TCGA-HZ-8636-01A-21D-2396-08 ZNF628-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000317934.2 1 0 0 24 111 0 17 1 6.608511e-01 2 10 0 17 2 0 0 0 0 17 2 1 1.000000 23 109 0 17 2 0 0 0 0 17 2 -20.000000 1 1 0 0 1 1 2 3 2.174778 0 0.410000 1.670000 0.418347 0.890000 0.590000 1.000000 1.000000 0.874978 0.890000 1 7.300000e-01 1 ZNF71 58491 broad.mit.edu 37 19 57133444 57133444 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr19:57133444G>A ENST00000328070.6 + 3 1023 c.789G>A c.(787-789)acG>acA p.T263T NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 26 ACCAGCGCACGCACACCGGGG 0.677000 0 SO:0001819 synonymous_variant ENST00000328070.6 1 1 hg19 CCDS12947.1 TCGA-HZ-8636-01A-21D-2396-08 ZNF71-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459798.2 1 0 0 32 395 0 47 1 6.899537e-01 4 27 0 47 2 0 0 0 0 47 2 1 1.000000 30 393 0 46 2 0 0 0 0 47 2 -20.000000 1 1 121356 2 34 1 1 2 3 2.174778 0 0.410000 1.670000 0.418347 0.370000 0.250000 1.000000 0.370000 0.413981 0.370000 0 3.100000e-01 4.600000e-01 SLC30A7 148867 broad.mit.edu 37 1 101379319 101379319 + Silent SNP T T C TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr1:101379319T>C ENST00000370112.4 + 6 799 c.612T>C c.(610-612)caT>caC p.H204H SLC30A7_ENST00000357650.4_Silent_p.H204H NM_001144884.1|NM_133496.4 NP_001138356.1|NP_598003.2 Q8NEW0 ZNT7_HUMAN solute carrier family 30 (zinc transporter), member 7 15 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) GTGCTGCACATAGCCATGATC 0.463000 NSCLC(91;473 1491 3102 16827 21633) 0 SO:0001819 synonymous_variant ENST00000370112.4 1 1 hg19 CCDS776.1 TCGA-HZ-8636-01A-21D-2396-08 SLC30A7-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032711.1 1 0 1 78 211 0 54 1 9.993715e-01 19 14 0 54 2 0 0 0 0 54 2 1 1.000000 78 210 0 54 2 0 0 0 0 54 2 -20.000000 1 1 0 0 1 0 1 1 1.950430 1 0.410000 1.670000 0.338083 0.990000 0.950000 1.000000 1.000000 0.997389 0.990000 1 9.900000e-01 1 MTOR 2475 broad.mit.edu 37 1 11269497 11269497 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr1:11269497C>T ENST00000361445.4 - 25 3749 c.3673G>A c.(3673-3675)Gaa>Aaa p.E1225K NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 149 Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287) TCCTCCTCTTCATCAGCAAGT 0.433000 0 SO:0001583 missense ENST00000361445.4 0 1 hg19 CCDS127.1 . . . . . . . . . . C 15.10 2.733505 0.48939 . . ENSG00000198793 ENST00000361445;ENST00000539766 T 0.67523 -0.27 5.92 5.92 0.95590 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.76190 0.3953 L 0.44542 1.39 0.80722 D 1 P 0.52842 0.956 P 0.62184 0.899 T 0.72308 -0.4332 10 0.38643 T 0.18 -15.5656 20.3207 0.98668 0.0:1.0:0.0:0.0 . 1225 P42345 MTOR_HUMAN K 1225 ENSP00000354558:E1225K ENSP00000354558:E1225K E - 1 0 MTOR 11192084 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.456000 0.80751 2.813000 0.96785 0.561000 0.74099 GAA TCGA-HZ-8636-01A-21D-2396-08 MTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005558.1 0 0 0 21 1012 0 143 0 2.253097e-01 1 41 0 143 2 0 0 0 0 143 2 1 0.999997 20 998 0 143 2 0 0 0 0 143 2 -2.574860 1 1 0 0 1 0 1 1 1.981445 0 0.410000 1.670000 0.350041 0.080000 0.050000 0.130000 0.090000 0.093957 0.080000 0 6.000000e-02 1.100000e-01 CTSK 1513 broad.mit.edu 37 1 150776542 150776542 + Missense_Mutation SNP C C G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C G C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr1:150776542C>G ENST00000271651.3 - 5 683 c.573G>C c.(571-573)aaG>aaC p.K191N CTSK_ENST00000480670.1_5'UTR NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TACCCCGGTTCTTCTGCACAT 0.493000 0 SO:0001583 missense ENST00000271651.3 1 1 hg19 CCDS969.1 . . . . . . . . . . C 13.78 2.337959 0.41398 . . ENSG00000143387 ENST00000271651;ENST00000443913 D;D 0.97710 -4.5;-4.5 5.57 1.37 0.22104 Peptidase C1A, papain C-terminal (2); 0.660593 0.16298 N 0.220576 D 0.89959 0.6866 L 0.39147 1.195 0.33900 D 0.638336 B 0.02656 0.0 B 0.06405 0.002 T 0.81263 -0.1012 10 0.44086 T 0.13 . 4.733 0.12974 0.0:0.4528:0.3003:0.2469 . 191 P43235 CATK_HUMAN N 191;250 ENSP00000271651:K191N;ENSP00000405083:K250N ENSP00000271651:K191N K - 3 2 CTSK 149043166 0.000000 0.05858 0.992000 0.48379 0.967000 0.64934 -0.585000 0.05794 0.303000 0.22785 -0.251000 0.11542 AAG TCGA-HZ-8636-01A-21D-2396-08 CTSK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084732.1 1 0 0 59 746 0 122 0 1 0 1228 0 122 2 0 0 0 0 122 2 1 1.000000 58 734 0 122 2 0 0 0 0 122 2 -12.573230 1 1 0 0 1 2 4 6 2.593216 1 0.410000 1.670000 0.513683 0.440000 0.330000 1.000000 0.430000 0.542803 0.440000 0 3.800000e-01 1 RSC1A1 6248 broad.mit.edu 37 1 15987039 15987039 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr1:15987039G>A ENST00000345034.1 + 1 676 c.676G>A c.(676-678)Gat>Aat p.D226N DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) ACAGAATGTGGATCCTCCAAG 0.428000 0 SO:0001583 missense ENST00000345034.1 1 1 hg19 CCDS161.1 . . . . . . . . . . G 1.555 -0.538146 0.04082 2.27E-4 0.0 ENSG00000215695 ENST00000345034 T 0.25749 1.78 5.61 2.6 0.31112 . 0.951788 0.08658 N 0.912835 T 0.13030 0.0316 N 0.14661 0.345 0.09310 N 1 B 0.31548 0.328 B 0.32465 0.146 T 0.33752 -0.9856 10 0.11485 T 0.65 -24.3955 4.6168 0.12430 0.0835:0.1587:0.6044:0.1534 . 226 Q92681 RSCA1_HUMAN N 226 ENSP00000341963:D226N ENSP00000341963:D226N D + 1 0 RSC1A1 15859626 0.004000 0.15560 0.065000 0.19835 0.041000 0.13682 1.461000 0.35255 0.668000 0.31126 0.561000 0.74099 GAT TCGA-HZ-8636-01A-21D-2396-08 RSC1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000145500.1 1 0 0 27 258 0 49 1 8.516301e-01 6 29 0 49 2 0 0 0 0 49 2 1 1.000000 25 255 0 49 2 0 0 0 0 49 2 -20.000000 1 1 121412 1 33 1 0 1 1 1.981445 0 0.410000 1.670000 0.350041 0.410000 0.280000 0.580000 0.420000 0.429200 0.410000 0 3.400000e-01 5.000000e-01 RPA2 6118 broad.mit.edu 37 1 28240605 28240605 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr1:28240605G>A ENST00000373912.3 - 2 385 c.86C>T c.(85-87)tCg>tTg p.S29L RPA2_ENST00000313433.7_Missense_Mutation_p.S117L|RPA2_ENST00000373909.3_Missense_Mutation_p.S37L NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) AGGTGCGGGCGATCCAAAGCC 0.502000 Direct reversal of damage;Nucleotide excision repair (NER) 0 SO:0001583 missense ENST00000373912.3 1 1 hg19 CCDS314.1 . . . . . . . . . . G 20.8 4.057680 0.76074 . . ENSG00000117748 ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045 T;T;T;T 0.26810 2.03;2.02;1.99;1.71 4.59 3.67 0.42095 . 0.184267 0.49305 D 0.000144 T 0.16896 0.0406 L 0.33485 1.01 0.40306 D 0.978667 P;B 0.39748 0.686;0.428 B;B 0.31290 0.127;0.087 T 0.04976 -1.0914 10 0.42905 T 0.14 -2.2818 12.0254 0.53367 0.0875:0.0:0.9124:0.0 . 29;37 P15927;P15927-2 RFA2_HUMAN;. L 29;37;117;33 ENSP00000363021:S29L;ENSP00000363017:S37L;ENSP00000363015:S117L;ENSP00000387649:S33L ENSP00000363015:S117L S - 2 0 RPA2 28113192 1.000000 0.71417 0.789000 0.31954 0.788000 0.44548 5.916000 0.69981 1.050000 0.40346 0.555000 0.69702 TCG TCGA-HZ-8636-01A-21D-2396-08 RPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011179.1 1 0 1 20 223 0 32 1 9.996186e-01 16 128 0 32 2 0 0 0 0 32 2 1 0.999996 20 220 0 32 2 0 0 0 0 32 2 -20.000000 1 1 0 0 1 0 1 1 1.950430 1 0.410000 1.670000 0.338083 0.350000 0.220000 0.520000 0.350000 0.369699 0.350000 0 2.800000e-01 4.400000e-01 EPB41L1 2036 broad.mit.edu 37 20 34785959 34785959 + Missense_Mutation SNP A A G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr20:34785959A>G ENST00000338074.2 + 14 1825 c.1664A>G c.(1663-1665)aAt>aGt p.N555S EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 37 Breast(12;0.0239) GAGAAAGCCAATGAGGTAGGT 0.597000 0 SO:0001583 missense ENST00000338074.2 1 1 hg19 CCDS13271.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 0.414|0.414 -0.911860|-0.911860 0.02434|0.02434 .|. .|. ENSG00000088367|ENSG00000088367 ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941;ENST00000454226 .|D;T;D;D;D;D .|0.82526 .|-1.54;-1.47;-1.54;-1.62;-1.55;-1.55 5.15|5.15 -0.0314|-0.0314 0.13910|0.13910 .|. .|0.285159 .|0.37857 .|N .|0.001905 T|T 0.59155|0.59155 0.2173|0.2173 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 .|B;B;B;B;B;B .|0.02656 .|0.0;0.0;0.0;0.0;0.0;0.0 .|B;B;B;B;B;B .|0.04013 .|0.0;0.0;0.0;0.001;0.0;0.001 T|T 0.44667|0.44667 -0.9313|-0.9313 5|10 .|0.08837 .|T .|0.75 .|. 8.306|8.306 0.32042|0.32042 0.3337:0.138:0.5284:0.0|0.3337:0.138:0.5284:0.0 .|. .|555;555;512;446;446;481 .|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2 .|.;E41L1_HUMAN;.;.;.;. V|S 121|481;446;555;446;481;512;129;555;555;53 .|ENSP00000202028:N481S;ENSP00000363061:N446S;ENSP00000399214:N481S;ENSP00000363057:N512S;ENSP00000337168:N555S;ENSP00000363052:N555S .|ENSP00000202028:N481S M|N +|+ 1|2 0|0 EPB41L1|EPB41L1 34249373|34249373 0.013000|0.013000 0.17824|0.17824 0.396000|0.396000 0.26296|0.26296 0.942000|0.942000 0.58702|0.58702 0.227000|0.227000 0.17795|0.17795 -0.280000|-0.280000 0.09154|0.09154 0.533000|0.533000 0.62120|0.62120 ATG|AAT TCGA-HZ-8636-01A-21D-2396-08 EPB41L1-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000078978.3 1 0 1 34 194 0 27 1 9.999999e-01 41 112 0 27 2 0 0 0 0 27 2 1 1.000000 32 189 0 27 2 0 0 0 0 27 2 -20.000000 1 1 121366 5 35 1 0 1 1 1.949394 0 0.410000 1.670000 0.345608 0.650000 0.460000 0.860000 0.650000 0.663677 0.650000 0 5.500000e-01 7.600000e-01 CABIN1 23523 broad.mit.edu 37 22 24451432 24451432 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr22:24451432G>A ENST00000398319.2 + 9 1288 c.903G>A c.(901-903)tcG>tcA p.S301S CABIN1_ENST00000263119.5_Silent_p.S301S|CABIN1_ENST00000405822.2_Silent_p.S251S NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 65 TTGATTTGTCGGACTACCAGG 0.572000 0 SO:0001819 synonymous_variant ENST00000398319.2 1 1 hg19 CCDS13823.1 TCGA-HZ-8636-01A-21D-2396-08 CABIN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320161.2 1 0 1 74 326 0 64 1 9.999866e-01 16 58 0 64 2 0 0 0 0 64 2 1 1.000000 73 320 0 64 2 0 0 0 0 64 2 -2.678476 1 1 121412 24 47 1 0 0 0 1.712291 1 0.410000 1.670000 0.257862 0.710000 0.570000 0.860000 0.710000 0.718257 0.710000 0 6.300000e-01 7.900000e-01 HMGXB4 10042 broad.mit.edu 37 22 35689619 35689619 + Missense_Mutation SNP T T C TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr22:35689619T>C ENST00000216106.5 + 11 1909 c.1781T>C c.(1780-1782)aTt>aCt p.I594T HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 19 TTAGACAACATTGCTTACATC 0.408000 0 SO:0001583 missense ENST00000216106.5 0 1 hg19 CCDS33641.1 . . . . . . . . . . T 26.6 4.756822 0.89843 . . ENSG00000100281 ENST00000444518;ENST00000216106 T;T 0.34072 1.38;1.42 5.98 5.98 0.97165 . 0.000000 0.85682 D 0.000000 T 0.59878 0.2226 M 0.68593 2.085 0.80722 D 1 D 0.76494 0.999 D 0.80764 0.994 T 0.62651 -0.6809 10 0.87932 D 0 -3.1144 16.4622 0.84064 0.0:0.0:0.0:1.0 . 594 Q9UGU5 HMGX4_HUMAN T 485;594 ENSP00000398302:I485T;ENSP00000216106:I594T ENSP00000216106:I594T I + 2 0 HMGXB4 34019619 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.008000 0.88588 2.289000 0.77006 0.533000 0.62120 ATT TCGA-HZ-8636-01A-21D-2396-08 HMGXB4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318104.2 0 0 0 7 423 0 55 1 4.239445e-01 2 78 0 55 2 0 0 0 0 55 2 1 0.979455 7 415 0 55 2 0 0 0 0 55 2 -6.768274 1 1 0 0 1 0 2 2 2.197826 1 0.410000 1.670000 0.410000 0.090000 0.030000 1.000000 0.080000 0.297454 0.090000 0 5.000000e-02 1 C1QTNF6 114904 broad.mit.edu 37 22 37578651 37578651 + Silent SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr22:37578651C>T ENST00000337843.2 - 3 489 c.414G>A c.(412-414)ccG>ccA p.P138P RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000397110.2_Silent_p.P138P NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 11 GCTTCTGGCACGGGGCGCCGG 0.672000 0 SO:0001819 synonymous_variant ENST00000337843.2 1 1 hg19 CCDS13943.1 TCGA-HZ-8636-01A-21D-2396-08 C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318807.1 1 0 0 13 273 0 59 1 8.756727e-01 5 75 0 59 2 0 0 0 0 59 2 1 0.999524 13 269 0 58 2 0 0 0 0 59 2 -14.570890 1 1 121380 4 36 1 0 0 0 1.727643 1 0.410000 1.670000 0.265438 0.170000 0.090000 0.290000 0.180000 0.188627 0.170000 0 1.300000e-01 2.400000e-01 TPO 7173 broad.mit.edu 37 2 1426892 1426892 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:1426892C>T ENST00000345913.4 + 3 261 c.170C>T c.(169-171)aCg>aTg p.T57M TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000382269.3_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000349624.3_Missense_Mutation_p.T57M|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.T57M NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) ATGTACGCCACGATGCAGAGG 0.592000 0 SO:0001583 missense ENST00000345913.4 1 1 hg19 CCDS1643.1 . . . . . . . . . . C 15.93 2.977929 0.53720 . . ENSG00000115705 ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198 T;T;T;T;T;T;T;T;T;T 0.59083 0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29 3.72 3.72 0.42706 . 0.376195 0.25383 N 0.031063 T 0.71837 0.3387 M 0.78801 2.425 0.09310 N 1 D;D;D;D;D 0.89917 0.999;0.999;1.0;0.999;0.997 P;P;D;P;P 0.63703 0.862;0.796;0.917;0.862;0.714 T 0.63391 -0.6648 10 0.87932 D 0 -20.6374 11.2868 0.49226 0.0:1.0:0.0:0.0 . 57;57;57;57;57 P07202-4;P07202-5;E9PFM6;P07202-2;P07202 .;.;.;.;PERT_HUMAN M 57 ENSP00000371704:T57M;ENSP00000337263:T57M;ENSP00000318820:T57M;ENSP00000263886:T57M;ENSP00000332044:T57M;ENSP00000444840:T57M;ENSP00000329869:T57M;ENSP00000371636:T57M;ENSP00000390994:T57M;ENSP00000371633:T57M ENSP00000329869:T57M T + 2 0 TPO 1405899 0.020000 0.18652 0.004000 0.12327 0.026000 0.11368 1.587000 0.36622 2.347000 0.79759 0.467000 0.42956 ACG TCGA-HZ-8636-01A-21D-2396-08 TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206594.2 1 0 1 31 184 0 28 0 0 0 0 28 2 0 0 0 0 28 2 1 1.000000 31 181 0 28 2 0 0 0 0 28 2 -20.000000 1 1 0 0 1 0 1 1 2.005848 0 0.410000 1.670000 0.365796 0.650000 0.460000 0.870000 0.650000 0.663737 0.650000 0 5.500000e-01 7.700000e-01 LRP2 4036 broad.mit.edu 37 2 170070366 170070366 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:170070366G>A ENST00000263816.3 - 36 6126 c.5841C>T c.(5839-5841)aaC>aaT p.N1947N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 315 """Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)" TTCCATCCACGTTTCCTCTTT 0.353000 0 SO:0001819 synonymous_variant ENST00000263816.3 1 1 hg19 CCDS2232.1 TCGA-HZ-8636-01A-21D-2396-08 LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 1 0 0 61 229 0 44 0 0 0 1 0 44 2 0 0 0 0 44 2 1 1.000000 60 226 0 44 2 0 0 0 0 44 2 -20.000000 1 1 121402 2 31 1 0 0 0 2.029558 0 0.410000 1.670000 0.376783 0.960000 0.760000 1.000000 1.000000 0.942293 0.960000 1 8.600000e-01 1 ZNF804A 91752 broad.mit.edu 37 2 185802911 185802911 + Missense_Mutation SNP G G C TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:185802911G>C ENST00000302277.6 + 4 3382 c.2788G>C c.(2788-2790)Gac>Cac p.D930H NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 146 AGAAGCAATTGACAATACCCT 0.378000 0 SO:0001583 missense ENST00000302277.6 1 1 hg19 CCDS2291.1 . . . . . . . . . . G 3.883 -0.025550 0.07589 . . ENSG00000170396 ENST00000302277 T 0.06142 3.34 5.57 0.657 0.17850 . 1.003210 0.08031 N 0.993607 T 0.06188 0.0160 L 0.36672 1.1 0.09310 N 1 P 0.34780 0.468 B 0.35971 0.215 T 0.40850 -0.9541 10 0.62326 D 0.03 -0.8515 5.0665 0.14585 0.3841:0.2901:0.3258:0.0 . 930 Q7Z570 Z804A_HUMAN H 930 ENSP00000303252:D930H ENSP00000303252:D930H D + 1 0 ZNF804A 185511156 0.000000 0.05858 0.000000 0.03702 0.091000 0.18340 0.072000 0.14617 0.039000 0.15632 0.591000 0.81541 GAC TCGA-HZ-8636-01A-21D-2396-08 ZNF804A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255871.1 1 0 0 38 446 0 74 0 1.866584e-02 0 3 0 74 2 0 0 0 0 74 2 1 1.000000 38 440 0 74 2 0 0 0 0 74 2 -20.000000 1 1 0 0 1 0 0 0 2.029558 0 0.410000 1.670000 0.376783 0.360000 0.250000 0.480000 0.360000 0.369321 0.360000 0 3.000000e-01 4.200000e-01 SDPR 8436 broad.mit.edu 37 2 192711597 192711597 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:192711597G>A ENST00000304141.4 - 1 384 c.55C>T c.(55-57)Cgg>Tgg p.R19W AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 serum deprivation response 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) TTTTCCTGCCGCATGTCAGAC 0.607000 0 SO:0001583 missense ENST00000304141.4 0 1 hg19 CCDS2313.1 . . . . . . . . . . G 3.773 -0.047252 0.07407 . . ENSG00000168497 ENST00000304141 T 0.64618 -0.11 4.84 1.97 0.26223 . 1.325690 0.04910 N 0.453002 T 0.42426 0.1202 N 0.08118 0 0.09310 N 1 B 0.11235 0.004 B 0.04013 0.001 T 0.30621 -0.9972 10 0.44086 T 0.13 -0.3117 6.636 0.22883 0.0846:0.0:0.5985:0.317 . 19 O95810 SDPR_HUMAN W 19 ENSP00000305675:R19W ENSP00000305675:R19W R - 1 2 SDPR 192419842 0.008000 0.16893 0.127000 0.21898 0.208000 0.24298 1.612000 0.36889 0.304000 0.22809 0.555000 0.69702 CGG TCGA-HZ-8636-01A-21D-2396-08 SDPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334791.2 0 0 0 7 392 0 53 0 3.511390e-01 0 63 0 53 2 0 0 0 0 53 2 1 0.979563 7 385 0 53 2 0 0 0 0 53 2 -2.979026 1 1 0 0 1 0 0 0 2.029558 0 0.410000 1.670000 0.376783 0.080000 0.030000 0.160000 0.080000 0.091752 0.080000 0 5.000000e-02 1.200000e-01 OBSL1 23363 broad.mit.edu 37 2 220428119 220428119 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:220428119C>T ENST00000404537.1 - 7 2694 c.2638G>A c.(2638-2640)Gtc>Atc p.V880I OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 Renal(207;0.0376) TCTCCAGCGACGCACTGAAAC 0.662000 0 SO:0001583 missense ENST00000404537.1 1 1 hg19 CCDS46520.1 . . . . . . . . . . C 13.27 2.186517 0.38609 . . ENSG00000124006 ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656 T;T;T;T;T 0.68181 -0.31;-0.31;-0.31;-0.31;-0.31 4.69 3.72 0.42706 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.76593 0.4009 L 0.58810 1.83 0.09310 N 1 D;D;D;D 0.76494 0.998;0.999;0.989;0.991 D;D;P;P 0.68943 0.934;0.961;0.475;0.688 T 0.64871 -0.6305 9 0.34782 T 0.22 . 13.3942 0.60840 0.0:0.9118:0.0:0.0881 . 881;880;467;880 A4KVA4;O75147;A8MSZ8;O75147-2 .;OBSL1_HUMAN;.;. I 880;880;880;880;467 ENSP00000265318:V880I;ENSP00000385636:V880I;ENSP00000362983:V880I;ENSP00000362980:V880I;ENSP00000289656:V467I ENSP00000265318:V880I V - 1 0 OBSL1 220136363 0.002000 0.14202 0.472000 0.27241 0.415000 0.31203 1.292000 0.33342 2.433000 0.82419 0.561000 0.74099 GTC TCGA-HZ-8636-01A-21D-2396-08 OBSL1-014 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322012.1 1 0 0 12 163 0 31 1 9.996797e-01 5 196 0 31 2 0 0 0 0 31 2 1 0.999001 12 156 0 31 2 0 0 0 0 31 2 -16.539090 1 1 120994 5 34 1 0 0 0 2.029558 0 0.410000 1.670000 0.376783 0.320000 0.170000 0.510000 0.320000 0.335991 0.320000 0 2.400000e-01 4.200000e-01 KIF3C 3797 broad.mit.edu 37 2 26204102 26204102 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:26204102G>A ENST00000264712.3 - 1 1264 c.685C>T c.(685-687)Cgt>Tgt p.R229C KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGAGCCACGTTCGCTGCAC 0.627000 0 SO:0001583 missense ENST00000264712.3 1 1 hg19 CCDS1719.1 . . . . . . . . . . G 9.272 1.045812 0.19748 . . ENSG00000084731 ENST00000264712;ENST00000542511;ENST00000405914 T;T 0.75821 -0.97;-0.97 5.67 2.82 0.32997 Kinesin, motor domain (4); 0.419809 0.26915 N 0.021842 T 0.62865 0.2463 M 0.69463 2.115 0.25228 N 0.98986 D;P 0.54964 0.969;0.919 B;B 0.35899 0.213;0.213 T 0.61792 -0.6990 10 0.56958 D 0.05 . 5.0533 0.14520 0.1584:0.0:0.5619:0.2797 . 229;229 B7ZM25;O14782 .;KIF3C_HUMAN C 229;35;229 ENSP00000264712:R229C;ENSP00000385030:R229C ENSP00000264712:R229C R - 1 0 KIF3C 26057606 0.032000 0.19561 0.708000 0.30435 0.901000 0.52897 0.305000 0.19254 0.761000 0.33130 0.655000 0.94253 CGT TCGA-HZ-8636-01A-21D-2396-08 KIF3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211611.1 1 0 0 23 373 0 52 1 4.452233e-01 3 22 0 52 2 0 0 0 0 52 2 1 0.999999 23 367 0 52 2 0 0 0 0 52 2 -20.000000 1 1 0 0 1 0 1 1 2.005848 0 0.410000 1.670000 0.365796 0.260000 0.170000 0.380000 0.260000 0.272456 0.260000 0 2.100000e-01 3.200000e-01 DPYSL5 56896 broad.mit.edu 37 2 27156166 27156166 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr2:27156166C>T ENST00000288699.6 + 7 913 c.755C>T c.(754-756)tCg>tTg p.S252L DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 p.S252L(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCAGTATCTCGGCTGGTGAC 0.517000 1 Substitution - Missense(1) SO:0001583 missense ENST00000288699.6 1 1 hg19 CCDS1730.1 . . . . . . . . . . C 22.5 4.303258 0.81136 0.0 1.16E-4 ENSG00000157851 ENST00000288699;ENST00000401478 D;D 0.90385 -2.66;-2.66 6.04 6.04 0.98038 Amidohydrolase 1 (1); 0.110781 0.64402 D 0.000007 D 0.87212 0.6121 L 0.48174 1.505 0.46478 D 0.999068 P 0.40360 0.714 B 0.31390 0.129 D 0.87568 0.2476 10 0.54805 T 0.06 -9.1882 19.3507 0.94384 0.0:1.0:0.0:0.0 . 252 Q9BPU6 DPYL5_HUMAN L 252 ENSP00000288699:S252L;ENSP00000385549:S252L ENSP00000288699:S252L S + 2 0 DPYSL5 27009670 0.999000 0.42202 0.998000 0.56505 0.991000 0.79684 4.261000 0.58841 2.873000 0.98535 0.561000 0.74099 TCG TCGA-HZ-8636-01A-21D-2396-08 DPYSL5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214187.2 1 0 1 50 289 0 52 0 0 0 0 52 2 0 0 0 0 52 2 1 1.000000 50 287 0 52 2 0 0 0 0 52 2 -2.668736 1 1 121412 8 41 1 0 1 1 2.005848 0 0.410000 1.670000 0.365796 0.660000 0.500000 0.840000 0.670000 0.675241 0.660000 0 5.800000e-01 7.600000e-01 WNT7A 7476 broad.mit.edu 37 3 13860779 13860779 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr3:13860779C>T ENST00000285018.4 - 4 1016 c.712G>A c.(712-714)Gtg>Atg p.V238M NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 24 ACAGGCTCCACGTGAACGGCC 0.602000 0 SO:0001583 missense ENST00000285018.4 1 1 hg19 CCDS2616.1 . . . . . . . . . . c 22.2 4.255353 0.80135 . . ENSG00000154764 ENST00000285018 T 0.80994 -1.44 4.18 4.18 0.49190 . 0.000000 0.85682 D 0.000000 D 0.88775 0.6528 M 0.80847 2.515 0.80722 D 1 D 0.76494 0.999 D 0.65010 0.931 D 0.88867 0.3330 10 0.37606 T 0.19 . 16.889 0.86082 0.0:1.0:0.0:0.0 . 238 O00755 WNT7A_HUMAN M 238 ENSP00000285018:V238M ENSP00000285018:V238M V - 1 0 WNT7A 13835780 1.000000 0.71417 0.986000 0.45419 0.963000 0.63663 7.812000 0.86109 2.048000 0.60808 0.558000 0.71614 GTG TCGA-HZ-8636-01A-21D-2396-08 WNT7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252031.2 1 0 0 43 428 0 57 1 9.920235e-01 5 71 0 57 2 0 0 0 0 57 2 1 1.000000 42 420 0 54 2 0 0 0 0 57 2 -20.000000 1 1 0 0 1 0 0 0 1.889187 1 0.410000 1.670000 0.330382 0.380000 0.280000 0.510000 0.390000 0.398102 0.380000 0 3.300000e-01 4.500000e-01 ATR 545 broad.mit.edu 37 3 142281392 142281392 + Silent SNP A A G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr3:142281392A>G ENST00000350721.4 - 4 973 c.852T>C c.(850-852)gaT>gaC p.D284D ATR_ENST00000383101.3_Silent_p.D284D NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ATR serine/threonine kinase 122 ATTGGTCAGTATCCATTTCTA 0.348000 Other conserved DNA damage response genes 0 SO:0001819 synonymous_variant ENST00000350721.4 1 1 hg19 CCDS3124.1 TCGA-HZ-8636-01A-21D-2396-08 ATR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353995.2 1 0 0 56 684 0 82 1 4.330305e-01 2 17 0 82 2 0 0 0 0 82 2 1 1.000000 55 679 0 82 2 0 0 0 0 82 2 -20.000000 1 1 0 0 1 1 2 3 2.293405 1 0.410000 1.670000 0.443107 0.400000 0.300000 1.000000 0.390000 0.515835 0.400000 0 3.400000e-01 1 SCN5A 6331 broad.mit.edu 37 3 38593036 38593036 + Silent SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr3:38593036C>T ENST00000333535.4 - 28 4976 c.4827G>A c.(4825-4827)tcG>tcA p.S1609S SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000413689.1_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000455624.2_Silent_p.S1576S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000449557.2_Silent_p.S1555S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Silent_p.S1591S Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) GGATGATGTCCGAGAGCACAG 0.612000 0 SO:0001819 synonymous_variant ENST00000333535.4 1 1 hg19 CCDS46796.1 TCGA-HZ-8636-01A-21D-2396-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 1 0 1 68 354 0 72 0 0 0 0 72 2 0 0 0 0 72 2 1 1.000000 66 344 0 72 2 0 0 0 0 72 2 -2.277746 0 1 0 0 1 0 0 0 1.889187 1 0.410000 1.670000 0.330382 0.680000 0.540000 0.840000 0.690000 0.696092 0.680000 0 6.100000e-01 7.700000e-01 PALLD 23022 broad.mit.edu 37 4 169837051 169837051 + Missense_Mutation SNP G G A rs114171764 by1000genomes TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr4:169837051G>A ENST00000505667.1 + 17 2896 c.2723G>A c.(2722-2724)cGt>cAt p.R908H PALLD_ENST00000261509.6_Missense_Mutation_p.R891H|PALLD_ENST00000507735.1_Missense_Mutation_p.R404H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H|PALLD_ENST00000335742.7_Missense_Mutation_p.R733H Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) TCAAGGCCTCGTTCTAGATCA 0.393000 Pancreatic Cancer, Familial Clustering of Esophageal Squamous(109;1482 1532 18347 40239 51172) 0 SO:0001583 missense Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1 ENST00000505667.1 1 1 hg19 CCDS54818.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 25.7 4.660793 0.88154 . . ENSG00000129116 ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735 T;T;T;T;T 0.66638 -0.19;-0.22;0.12;-0.12;0.16 5.68 5.68 0.88126 . 0.000000 0.31859 U 0.006948 T 0.81138 0.4760 M 0.68593 2.085 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.71656 0.974;0.959;0.959;0.974 T 0.80525 -0.1344 10 0.51188 T 0.08 . 19.7942 0.96472 0.0:0.0:1.0:0.0 . 908;1115;509;891 B7ZMM5;Q8WX93;B3KTG2;B2RTX2 .;PALLD_HUMAN;.;. H 891;733;908;509;404 ENSP00000261509:R891H;ENSP00000336735:R733H;ENSP00000425556:R908H;ENSP00000426947:R509H;ENSP00000424016:R404H ENSP00000261509:R891H R + 2 0 PALLD 170073626 1.000000 0.71417 0.995000 0.50966 0.933000 0.57130 9.869000 0.99810 2.684000 0.91462 0.313000 0.20887 CGT TCGA-HZ-8636-01A-21D-2396-08 PALLD-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000363762.1 1 0 1 110 249 0 53 1 1 67 664 0 53 2 0 0 0 0 53 2 1 1.000000 108 245 0 53 2 0 0 0 0 53 2 -20.000000 1 1 121410 25 44 1 0 2 2 2.155429 1 0.410000 1.670000 0.410000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 TSSK1B 83942 broad.mit.edu 37 5 112770240 112770240 + Silent SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:112770240G>A ENST00000390666.3 - 1 488 c.297C>T c.(295-297)ctC>ctT p.L99L MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) TGATTAACTCGAGGAGGTCGC 0.537000 0 SO:0001819 synonymous_variant ENST00000390666.3 1 1 hg19 CCDS4112.1 TCGA-HZ-8636-01A-21D-2396-08 TSSK1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250774.2 0 0 0 10 235 0 47 0 0 0 0 47 2 0 0 0 0 47 2 1 0.996795 10 231 0 47 2 0 0 0 0 47 2 -11.596390 1 1 0 0 1 0 0 0 1.958709 0 0.410000 1.670000 0.351506 0.180000 0.090000 0.310000 0.180000 0.196161 0.180000 0 1.300000e-01 2.500000e-01 SLC36A3 285641 broad.mit.edu 37 5 150660632 150660632 + Missense_Mutation SNP C C G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:150660632C>G ENST00000335230.3 - 9 1498 c.1087G>C c.(1087-1089)Gag>Cag p.E363Q SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCAGCTCTCTGACACTTGG 0.507000 0 SO:0001583 missense ENST00000335230.3 1 1 hg19 CCDS4314.1 . . . . . . . . . . C 12.88 2.070848 0.36566 . . ENSG00000186334 ENST00000335230;ENST00000377713 T;T 0.02197 4.4;4.4 4.06 4.06 0.47325 . 0.363547 0.29752 N 0.011295 T 0.04003 0.0112 L 0.57130 1.785 0.38876 D 0.956801 B;B;B 0.33777 0.041;0.425;0.109 B;B;B 0.36378 0.07;0.223;0.061 T 0.54016 -0.8356 10 0.15952 T 0.53 . 16.7998 0.85611 0.0:1.0:0.0:0.0 . 404;363;348 Q495N2-3;Q495N2;Q495N2-2 .;S36A3_HUMAN;. Q 363;404 ENSP00000334750:E363Q;ENSP00000366942:E404Q ENSP00000334750:E363Q E - 1 0 SLC36A3 150640825 0.985000 0.35326 0.994000 0.49952 0.828000 0.46876 3.426000 0.52778 2.249000 0.74217 0.561000 0.74099 GAG TCGA-HZ-8636-01A-21D-2396-08 SLC36A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252436.1 1 0 0 31 295 0 62 0 0 0 0 62 2 0 0 0 0 62 2 1 1.000000 29 290 0 62 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 0 0 0 1.958709 0 0.410000 1.670000 0.351506 0.420000 0.290000 0.570000 0.420000 0.430537 0.420000 0 3.500000e-01 5.000000e-01 FBXL7 23194 broad.mit.edu 37 5 15937245 15937245 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:15937245C>T ENST00000504595.1 + 4 1907 c.1426C>T c.(1426-1428)Cgc>Tgc p.R476C FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 p.R476C(1) 60 CTTTGTCAAACGCCACTGCAA 0.577000 1 Substitution - Missense(1) SO:0001583 missense ENST00000504595.1 0 1 hg19 CCDS54833.1 . . . . . . . . . . C 28.5 4.928841 0.92389 . . ENSG00000183580 ENST00000504595;ENST00000510662;ENST00000329673 T;T;T 0.54866 0.55;0.55;0.55 5.36 5.36 0.76844 . 0.000000 0.85682 D 0.000000 T 0.65801 0.2726 L 0.57536 1.79 0.80722 D 1 D 0.89917 1.0 P 0.56216 0.794 T 0.69250 -0.5194 10 0.87932 D 0 . 19.0895 0.93221 0.0:1.0:0.0:0.0 . 476 Q9UJT9 FBXL7_HUMAN C 476;429;464 ENSP00000423630:R476C;ENSP00000425184:R429C;ENSP00000329632:R464C ENSP00000329632:R464C R + 1 0 FBXL7 15990245 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 7.731000 0.84895 2.521000 0.84997 0.650000 0.86243 CGC TCGA-HZ-8636-01A-21D-2396-08 FBXL7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366117.1 0 0 0 5 124 0 18 0 3.453894e-01 0 27 0 18 2 0 0 0 0 18 2 1 0.937520 5 123 0 18 2 0 0 0 0 18 2 -9.976643 1 1 0 0 1 0 1 1 1.994765 0 0.410000 1.670000 0.365796 0.180000 0.070000 0.370000 0.170000 0.205078 0.180000 0 1.200000e-01 2.800000e-01 BTF3 689 broad.mit.edu 37 5 72798334 72798334 + Missense_Mutation SNP A A G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:72798334A>G ENST00000335895.8 + 3 242 c.91A>G c.(91-93)Aag>Gag p.K31E BTF3_ENST00000380591.3_Missense_Mutation_p.K75E|BTF3_ENST00000514505.2_3'UTR NM_001207.4 NP_001198.2 O00478 BT3A3_HUMAN basic transcription factor 3 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) CAGAAAGAAGAAGGTGGTTCA 0.383000 0 SO:0001583 missense ENST00000335895.8 1 1 hg19 CCDS4019.1 . . . . . . . . . . A 32 5.119843 0.94385 . . ENSG00000145741 ENST00000335895;ENST00000380591 . . . 5.55 5.55 0.83447 . 0.000000 0.85682 U 0.000000 T 0.55401 0.1918 M 0.64404 1.975 0.80722 D 1 P 0.36647 0.563 B 0.32022 0.139 T 0.62320 -0.6879 9 0.87932 D 0 -11.6055 15.9962 0.80250 1.0:0.0:0.0:0.0 . 75 P20290 BTF3_HUMAN E 31;75 . ENSP00000338516:K31E K + 1 0 BTF3 72834090 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.252000 0.95491 2.234000 0.73211 0.533000 0.62120 AAG TCGA-HZ-8636-01A-21D-2396-08 BTF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219815.2 1 0 1 32 161 0 36 1 1 707 1848 0 36 2 0 0 0 0 36 2 1 1.000000 28 168 0 36 2 0 0 0 0 36 2 -18.024930 1 1 0 0 1 0 0 0 1.958709 0 0.410000 1.670000 0.351506 0.730000 0.520000 0.970000 0.730000 0.742879 0.730000 0 6.200000e-01 8.600000e-01 BTF3 689 broad.mit.edu 37 5 72798335 72798335 + Missense_Mutation SNP A A T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:72798335A>T ENST00000335895.8 + 3 243 c.92A>T c.(91-93)aAg>aTg p.K31M BTF3_ENST00000380591.3_Missense_Mutation_p.K75M|BTF3_ENST00000514505.2_3'UTR NM_001207.4 NP_001198.2 O00478 BT3A3_HUMAN basic transcription factor 3 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) AGAAAGAAGAAGGTGGTTCAT 0.388000 0 SO:0001583 missense ENST00000335895.8 1 1 hg19 CCDS4019.1 . . . . . . . . . . A 26.8 4.775465 0.90108 . . ENSG00000145741 ENST00000335895;ENST00000380591 . . . 5.55 5.55 0.83447 . 0.000000 0.85682 U 0.000000 T 0.77412 0.4126 M 0.81112 2.525 0.80722 D 1 D 0.64830 0.994 P 0.58391 0.838 T 0.81335 -0.0979 9 0.87932 D 0 -11.6055 15.9962 0.80250 1.0:0.0:0.0:0.0 . 75 P20290 BTF3_HUMAN M 31;75 . ENSP00000338516:K31M K + 2 0 BTF3 72834091 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.252000 0.95491 2.234000 0.73211 0.533000 0.62120 AAG TCGA-HZ-8636-01A-21D-2396-08 BTF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219815.2 1 0 1 32 158 0 36 1 1 701 1848 0 36 2 0 0 0 0 36 2 1 1.000000 28 164 0 36 2 0 0 0 0 36 2 -18.228150 1 0 0 0 1 0 0 0 1.958709 0 0.410000 1.670000 0.351506 0.740000 0.530000 0.980000 0.750000 0.754032 0.740000 0 6.300000e-01 8.700000e-01 POU5F2 134187 broad.mit.edu 37 5 93077092 93077092 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr5:93077092C>T ENST00000510627.4 - 1 251 c.178G>A c.(178-180)Gtg>Atg p.V60M FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) ATCCTCCACACGTCAGGGCCT 0.672000 0 SO:0001583 missense ENST00000510627.4 0 1 hg19 CCDS59489.1 TCGA-HZ-8636-01A-21D-2396-08 POU5F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369873.5 1 0 0 10 137 0 15 0 0 0 0 15 2 0 0 0 0 15 2 1 0.997200 10 137 0 15 2 0 0 0 0 15 2 -14.615780 1 1 0 0 1 0 0 0 1.958709 0 0.410000 1.670000 0.351506 0.300000 0.150000 0.510000 0.300000 0.323557 0.300000 0 2.200000e-01 4.100000e-01 FKBP5 2289 broad.mit.edu 37 6 35604901 35604901 + Missense_Mutation SNP G G A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr6:35604901G>A ENST00000539068.1 - 3 342 c.140C>T c.(139-141)cCg>cTg p.P47L FKBP5_ENST00000542713.1_Missense_Mutation_p.P47L|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L NM_001145776.1 NP_001139248.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 17 TCCAATCATCGGCGTTTCCTC 0.338000 0 SO:0001583 missense ENST00000539068.1 1 1 hg19 CCDS4808.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 28.0 4.879464 0.91740 0.0 2.33E-4 ENSG00000096060 ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875 T;T;T;T 0.58506 0.33;0.33;0.33;0.33 5.38 5.38 0.77491 Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1); 0.000000 0.85682 D 0.000000 D 0.82563 0.5064 H 0.97365 3.99 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.991;1.0 D 0.88558 0.3121 10 0.87932 D 0 -13.9393 16.0837 0.81023 0.0:0.0:1.0:0.0 . 47;47 F5H7R1;Q13451 .;FKBP5_HUMAN L 47;47;47;47;10;47;45 ENSP00000444810:P47L;ENSP00000349811:P47L;ENSP00000441205:P47L;ENSP00000442340:P47L ENSP00000338160:P47L P - 2 0 FKBP5 35712879 1.000000 0.71417 0.989000 0.46669 0.953000 0.61014 8.309000 0.89969 2.515000 0.84797 0.655000 0.94253 CCG TCGA-HZ-8636-01A-21D-2396-08 FKBP5-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040309.2 0 0 0 12 331 0 39 0 8.618237e-01 0 100 0 39 2 0 0 0 0 39 2 1 0.999125 12 329 0 39 2 0 0 0 0 39 2 -2.747154 1 1 121410 8 42 1 0 3 3 2.354674 1 0.410000 1.670000 0.453678 0.200000 0.100000 1.000000 0.190000 0.382540 0.200000 0 1.400000e-01 1 ECI2 10455 broad.mit.edu 37 6 4119468 4119468 + Silent SNP C C T rs114924821 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr6:4119468C>T ENST00000380118.3 - 8 873 c.837G>A c.(835-837)ccG>ccA p.P279P ECI2_ENST00000413766.2_Silent_p.P112P|ECI2_ENST00000380125.2_Silent_p.P249P|ECI2_ENST00000465828.1_Silent_p.P249P|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000361538.2_Silent_p.P249P|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 11 AGCATCCTTCCGGACTTTGGC 0.363000 0 SO:0001819 synonymous_variant ENST00000380118.3 1 1 hg19 CCDS43420.2 TCGA-HZ-8636-01A-21D-2396-08 ECI2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039716.4 1 0 1 27 233 0 53 1 9.998485e-01 6 114 0 53 2 0 0 0 0 53 2 1 1.000000 26 228 0 53 2 0 0 0 0 53 2 -2.429501 0 1 121412 11 43 1 0 0 0 1.891332 1 0.410000 1.670000 0.330382 0.440000 0.300000 0.610000 0.440000 0.455766 0.440000 0 3.600000e-01 5.300000e-01 TRPV6 55503 broad.mit.edu 37 7 142574925 142574925 + Missense_Mutation SNP G G A rs148239732 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr7:142574925G>A ENST00000359396.3 - 4 702 c.457C>T c.(457-459)Cgc>Tgc p.R153C RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 42 Melanoma(164;0.059) GGACTACGGCGGAAGGCAGTG 0.622000 0 SO:0001583 missense ENST00000359396.3 1 1 hg19 CCDS5874.1 . . . . . . . . . . G 12.26 1.884573 0.33255 2.27E-4 0.0 ENSG00000165125 ENST00000359396 T 0.53640 0.61 3.86 0.902 0.19290 Ankyrin repeat-containing domain (3); 0.461329 0.22855 N 0.054809 T 0.27933 0.0688 N 0.24115 0.695 0.41057 D 0.985342 B 0.18863 0.031 B 0.21546 0.035 T 0.05716 -1.0868 10 0.46703 T 0.11 -1.2388 3.8826 0.09085 0.3834:0.0:0.4439:0.1726 . 153 Q9H1D0 TRPV6_HUMAN C 153 ENSP00000352358:R153C ENSP00000352358:R153C R - 1 0 TRPV6 142285047 0.951000 0.32395 0.502000 0.27614 0.877000 0.50540 1.532000 0.36029 0.307000 0.22880 0.655000 0.94253 CGC TCGA-HZ-8636-01A-21D-2396-08 TRPV6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347662.1 1 0 1 81 283 0 51 1 9.433976e-01 9 10 0 51 2 0 0 0 0 51 2 1 1.000000 80 278 0 50 2 0 0 0 0 51 2 -3.619015 1 1 121412 4 38 1 0 0 0 2.126706 0 0.410000 1.670000 0.405122 0.990000 0.870000 1.000000 1.000000 0.986949 0.990000 1 9.600000e-01 1 NUPL2 11097 broad.mit.edu 37 7 23221735 23221735 + Missense_Mutation SNP C C G TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr7:23221735C>G ENST00000258742.5 + 1 290 c.31C>G c.(31-33)Cgg>Ggg p.R11G AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Missense_Mutation_p.R11G NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 19 CCTTCAAGGCCGGTGCCGCTT 0.612000 0 SO:0001583 missense ENST00000258742.5 1 1 hg19 CCDS5379.1 . . . . . . . . . . C 16.62 3.173319 0.57584 . . ENSG00000136243 ENST00000258742;ENST00000410002;ENST00000413919 T;T;T 0.47528 0.84;0.84;0.84 5.14 3.29 0.37713 Zinc finger, CCCH-type (1); 0.129374 0.51477 D 0.000094 T 0.59770 0.2218 M 0.67700 2.07 0.45676 D 0.99859 D 0.76494 0.999 D 0.68943 0.961 T 0.57871 -0.7736 10 0.48119 T 0.1 -13.7234 6.8112 0.23805 0.2509:0.6099:0.0:0.1392 . 11 O15504 NUPL2_HUMAN G 11 ENSP00000258742:R11G;ENSP00000387330:R11G;ENSP00000401475:R11G ENSP00000258742:R11G R + 1 2 NUPL2 23188260 1.000000 0.71417 0.871000 0.34182 0.994000 0.84299 1.853000 0.39358 0.825000 0.34637 0.655000 0.94253 CGG TCGA-HZ-8636-01A-21D-2396-08 NUPL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214017.2 1 0 1 59 169 0 25 1 9.997790e-01 11 29 0 25 2 0 0 0 0 25 2 1 1.000000 58 169 0 25 2 0 0 0 0 25 2 -20.000000 1 0 0 0 1 1 2 3 2.162848 0 0.410000 1.670000 0.412409 0.990000 0.990000 1.000000 1.000000 0.998939 0.990000 1 9.900000e-01 1 PCLO 27445 broad.mit.edu 37 7 82544266 82544266 + Missense_Mutation SNP G G T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr7:82544266G>T ENST00000333891.9 - 7 13373 c.13036C>A c.(13036-13038)Caa>Aaa p.Q4346K PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 259 CCTCTACTTTGACTAATTGGC 0.488000 0 SO:0001583 missense ENST00000333891.9 1 1 hg19 CCDS47630.1 . . . . . . . . . . G 17.72 3.459440 0.63401 . . ENSG00000186472 ENST00000333891;ENST00000423517;ENST00000437081 T;T 0.18338 2.22;2.22 5.61 5.61 0.85477 . . . . . T 0.43700 0.1259 M 0.68593 2.085 0.80722 D 1 D;D;D 0.71674 0.997;0.998;0.998 D;D;D 0.81914 0.98;0.995;0.995 T 0.27806 -1.0063 9 0.87932 D 0 . 19.6481 0.95790 0.0:0.0:1.0:0.0 . 4277;4346;4346 Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6 PCLO_HUMAN;.;. K 4346;4346;1066 ENSP00000334319:Q4346K;ENSP00000388393:Q4346K ENSP00000334319:Q4346K Q - 1 0 PCLO 82382202 1.000000 0.71417 1.000000 0.80357 0.908000 0.53690 9.869000 0.99810 2.651000 0.90000 0.557000 0.71058 CAA TCGA-HZ-8636-01A-21D-2396-08 PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 1 0 0 39 383 0 57 1 1.713584e-01 3 5 0 57 2 0 0 0 0 57 2 1 1.000000 39 377 0 55 2 0 0 0 0 57 2 -12.399780 1 1 0 0 1 1 2 3 2.162848 0 0.410000 1.670000 0.412409 0.450000 0.320000 0.620000 0.450000 0.465807 0.450000 0 3.800000e-01 5.300000e-01 EHMT1 79813 broad.mit.edu 37 9 140648742 140648742 + Splice_Site SNP C C T rs45450992 byFrequency TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chr9:140648742C>T ENST00000460843.1 + 8 1395 c.1368C>T c.(1366-1368)ctC>ctT p.L456L EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Splice_Site_p.L456L|EHMT1_ENST00000334856.6_Splice_Site_p.L425L NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 41 all_cancers(76;0.164) GCGGTGCCCTCGGTAAATGCC 0.577000 0 SO:0001630 splice_region_variant ENST00000460843.1 1 0 hg19 CCDS7050.2 TCGA-HZ-8636-01A-21D-2396-08 EHMT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055371.2 0 0 1 46 314 0 43 1 9.973912e-01 15 49 0 43 2 0 0 0 0 43 2 1 1.000000 45 311 0 43 2 0 0 0 0 43 2 -2.710216 1 1 121412 8665 71 1 0 0 0 1.982324 0 0.410000 1.670000 0.360156 0.570000 0.420000 0.730000 0.570000 0.581127 0.570000 0 4.900000e-01 6.600000e-01 SASH3 54440 broad.mit.edu 37 X 128927070 128927070 + Silent SNP C C A rs142835579 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:128927070C>A ENST00000356892.3 + 7 1021 c.907C>A c.(907-909)Cgg>Agg p.R303R RP4-753P9.3_ENST00000432513.1_RNA NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 p.R303R(1) 12 TCCACAGCACCGGGCCAAGCT 0.587000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000356892.3 1 1 hg19 CCDS14614.1 TCGA-HZ-8636-01A-21D-2396-08 SASH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058208.1 1 0 1 92 366 0 74 0 9.884624e-01 0 30 0 74 2 0 0 0 0 74 2 1 1.000000 91 359 0 74 2 0 0 0 0 74 2 -3.176236 1 1 121410 4 39 1 0 1 1 0.410000 1.670000 0.410000 0.970000 0.800000 1.000000 1.000000 0.954390 0.970000 1 8.800000e-01 1 SPANXC 64663 broad.mit.edu 37 X 140335774 140335774 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:140335774C>T ENST00000358993.2 - 2 208 c.170G>A c.(169-171)aGg>aAg p.R57K NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 6 Acute lymphoblastic leukemia(192;7.65e-05) TTTCACGTTCCTCCTGTAGCG 0.502000 0 SO:0001583 missense ENST00000358993.2 1 1 hg19 CCDS14673.1 . . . . . . . . . . c 9.847 1.192504 0.21954 . . ENSG00000198573 ENST00000358993 T 0.05925 3.37 . . . . . . . . T 0.09818 0.0241 N 0.25485 0.75 0.09310 N 1 D 0.57257 0.979 D 0.71414 0.973 T 0.33523 -0.9865 7 0.12766 T 0.61 . . . . . 57 Q9NY87 SPNXC_HUMAN K 57 ENSP00000351884:R57K ENSP00000351884:R57K R - 2 0 SPANXC 140163440 0.024000 0.19004 0.009000 0.14445 0.009000 0.06853 0.064000 0.14437 0.328000 0.23435 0.330000 0.21533 AGG TCGA-HZ-8636-01A-21D-2396-08 SPANXC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058590.1 0 0 0 262 1500 0 275 0 0 0 0 275 2 0 0 0 0 275 2 1 1.000000 226 1290 0 327 2 0 0 0 0 275 2 -3.017764 1 1 114528 1 32 1 0 1 1 0.410000 1.670000 0.410000 0.720000 0.640000 0.800000 0.720000 0.726684 0.720000 0 6.700000e-01 7.700000e-01 DNASE1L1 1774 broad.mit.edu 37 X 153631476 153631476 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:153631476C>T ENST00000393638.1 - 7 867 c.581G>A c.(580-582)cGc>cAc p.R194H DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R194H|SNORA70_ENST00000384436.1_RNA NM_001009934.1 NP_001009934.1 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTGTCCAGGCGCTTTTTGGT 0.612000 0 SO:0001583 missense ENST00000393638.1 1 1 hg19 CCDS14747.1 . . . . . . . . . . C 10.18 1.278287 0.23307 . . ENSG00000013563 ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865 T;T;T;T;T;T;T 0.80566 -1.39;-1.39;-1.39;-1.39;-1.39;-1.39;1.41 5.11 3.35 0.38373 Endonuclease/exonuclease/phosphatase (2); 0.664814 0.16178 N 0.225967 T 0.65344 0.2682 L 0.27053 0.805 0.26742 N 0.970362 B 0.32160 0.358 B 0.30105 0.111 T 0.52419 -0.8578 10 0.27785 T 0.31 -14.5753 6.7231 0.23340 0.0:0.698:0.0:0.302 . 194 P49184 DNSL1_HUMAN H 194 ENSP00000358824:R194H;ENSP00000377255:R194H;ENSP00000014935:R194H;ENSP00000358823:R194H;ENSP00000358822:R194H;ENSP00000309168:R194H;ENSP00000393346:R194H ENSP00000014935:R194H R - 2 0 DNASE1L1 153284670 1.000000 0.71417 0.726000 0.30738 0.133000 0.20885 1.655000 0.37345 0.398000 0.25338 0.597000 0.82753 CGC TCGA-HZ-8636-01A-21D-2396-08 DNASE1L1-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080928.2 1 0 1 156 471 0 77 0 1 0 218 0 77 2 0 0 0 0 77 2 1 1.000000 156 468 0 75 2 0 0 0 0 77 2 -20.000000 1 1 121404 1 41 1 0 1 1 0.410000 1.670000 0.410000 0.990000 0.990000 1.000000 1.000000 0.999904 0.990000 1 9.900000e-01 1 GAB3 139716 broad.mit.edu 37 X 153927709 153927709 + Missense_Mutation SNP C C A TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:153927709C>A ENST00000369575.3 - 6 1233 c.1202G>T c.(1201-1203)gGt>gTt p.G401V GAB3_ENST00000424127.2_Missense_Mutation_p.G402V|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACCAGAGGCACCAGCCTGGGG 0.547000 0 SO:0001583 missense ENST00000369575.3 1 1 hg19 CCDS14760.1 . . . . . . . . . . C 10.41 1.341281 0.24339 . . ENSG00000160219 ENST00000369575;ENST00000369568;ENST00000424127 T;T;T 0.16073 2.37;2.37;2.37 5.85 -4.34 0.03666 . 1.256530 0.05135 N 0.493327 T 0.09202 0.0227 N 0.12182 0.205 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.35226 -0.9797 10 0.51188 T 0.08 -22.0678 6.7413 0.23437 0.3925:0.3004:0.3071:0.0 . 402;402;401 A6NHF8;E9PB44;Q8WWW8 .;.;GAB3_HUMAN V 401;402;402 ENSP00000358588:G401V;ENSP00000358581:G402V;ENSP00000399588:G402V ENSP00000358581:G402V G - 2 0 GAB3 153580903 0.000000 0.05858 0.000000 0.03702 0.239000 0.25481 0.182000 0.16900 -1.830000 0.01199 -1.178000 0.01721 GGT TCGA-HZ-8636-01A-21D-2396-08 GAB3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000061192.2 1 0 0 27 631 0 90 0 1.178356e-01 0 14 0 90 2 0 0 0 0 90 2 1 1.000000 26 623 0 90 2 0 0 0 0 90 2 -19.999990 1 1 0 0 1 0 1 1 0.410000 1.670000 0.410000 0.190000 0.130000 0.280000 0.200000 0.206480 0.190000 0 1.600000e-01 2.400000e-01 MAGEB1 4112 broad.mit.edu 37 X 30269599 30269599 + Missense_Mutation SNP C C T rs145293151 TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:30269599C>T ENST00000378981.3 + 4 1310 c.989C>T c.(988-990)aCg>aTg p.T330M MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 32 ACTACTGCCACGACTTTTAGA 0.527000 0 SO:0001583 missense ENST00000378981.3 1 1 hg19 CCDS14222.1 . . . . . . . . . . C 1.310 -0.602440 0.03744 0.0 1.49E-4 ENSG00000214107 ENST00000378981;ENST00000397550;ENST00000397548 T;T;T 0.01629 4.72;4.72;4.72 3.09 -6.18 0.02085 . . . . . T 0.00724 0.0024 N 0.08118 0 0.09310 N 1 P 0.34892 0.474 B 0.19666 0.026 T 0.27806 -1.0063 9 0.31617 T 0.26 . 2.6292 0.04939 0.1313:0.4097:0.2575:0.2015 . 330 P43366 MAGB1_HUMAN M 330 ENSP00000368264:T330M;ENSP00000380683:T330M;ENSP00000380681:T330M ENSP00000368264:T330M T + 2 0 MAGEB1 30179520 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.555000 0.00925 -4.807000 0.00031 -1.407000 0.01130 ACG TCGA-HZ-8636-01A-21D-2396-08 MAGEB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056160.1 0 0 1 80 398 1 62 0 0 0 1 62 2 0 0 0 1 62 2 1 1.000000 79 396 1 61 24 0 0 0 1 62 2 -20.000000 1 1 121410 6 38 1 0 1 1 0.410000 1.670000 0.410000 0.810000 0.650000 0.980000 0.820000 0.820031 0.810000 0 7.300000e-01 9.000000e-01 SRPX2 27286 broad.mit.edu 37 X 99924269 99924269 + Missense_Mutation SNP C C T TCGA-HZ-8636-01A-21D-2396-08 TCGA-HZ-8636-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5e10fd06-7031-4ceb-87ba-968cfd18cea5 4631085a-4eb9-4424-b246-14506cf16dee g.chrX:99924269C>T ENST00000373004.3 + 10 1548 c.1120C>T c.(1120-1122)Cgg>Tgg p.R374W NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 19 ACTGGATTTGCGGCATGTGAC 0.552000 0 SO:0001583 missense ENST00000373004.3 1 1 hg19 CCDS14471.1 . . . . . . . . . . C 19.86 3.905934 0.72868 0.0 1.49E-4 ENSG00000102359 ENST00000373004 T 0.73897 -0.79 5.39 3.55 0.40652 . 0.106917 0.64402 D 0.000003 D 0.86024 0.5834 M 0.83223 2.63 0.51767 D 0.999933 D 0.89917 1.0 D 0.85130 0.997 D 0.85856 0.1407 9 . . . -2.9549 13.6078 0.62058 0.299:0.701:0.0:0.0 . 374 O60687 SRPX2_HUMAN W 374 ENSP00000362095:R374W . R + 1 2 SRPX2 99810925 1.000000 0.71417 0.989000 0.46669 0.990000 0.78478 0.863000 0.27913 0.429000 0.26202 0.596000 0.82720 CGG TCGA-HZ-8636-01A-21D-2396-08 SRPX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057486.1 0 0 0 7 311 0 36 0 6.082881e-01 0 87 0 36 2 0 0 0 0 36 2 1 0.980020 7 307 0 36 2 0 0 0 0 36 2 -3.159425 1 1 121410 4 33 1 0 1 1 0.410000 1.670000 0.410000 0.110000 0.040000 0.210000 0.100000 0.121384 0.110000 0 7.000000e-02 1.600000e-01