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 DNM1L 10059 broad.mit.edu 37 12 32861115 32861117 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 AAG - AAG AAG Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:32861115_32861117delAAG ENST00000549701.1 + 4 400_402 c.326_328delAAG c.(325-330)caagaa>caa p.E110del Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000452533.2_In_Frame_Del_p.E110del|DNM1L_ENST00000548671.1_3'UTR O00429 DNM1L_HUMAN dynamin 1-like 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GAAATTCGACAAGAAATTGAAAA 0.291000 0 SO:0001651 inframe_deletion ENST00000549701.1 1 1 hg19 CCDS8729.1 TCGA-2J-AAB6-01A-11D-A40W-08 DNM1L-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000404124.1 1 0 0 65 170 0 75 1 9.997524e-01 13 23 0 75 2 0 0 0 0 0 0 1 1.000000 70 176 0 75 2 -20.000000 1 1 0 0 1 0 2 2 1.944943 1 0.540000 2.400000 0.540000 0.990000 8.100000e-01 1.000000 1.000000 0.969769 0.990000 1 9.100000e-01 1 C5 727 broad.mit.edu 37 9 123785771 123785772 + Frame_Shift_Ins INS - - T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:123785771_123785772insT ENST00000223642.1 - 10 1055_1056 c.1026_1027insA c.(1024-1029)atacctfs p.P343fs NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 46 Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028) TTGATGCCAGGTATTTCTGCCT 0.411000 0 SO:0001589 frameshift_variant ENST00000223642.1 0 1 hg19 CCDS6826.1 TCGA-2J-AAB6-01A-11D-A40W-08 C5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053844.1 1 0 0 159 349 0 113 0 9.884502e-02 0 2 0 113 2 0 0 0 0 0 0 1 1.000000 161 345 0 108 2 -12.270970 1 1 0 0 1 0 2 2 1.772324 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 0.999589 0.990000 1 9.900000e-01 1 GPR26 2849 broad.mit.edu 37 10 125426411 125426411 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:125426411C>T ENST00000284674.1 + 1 541 c.488C>T c.(487-489)cCa>cTa p.P163L NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGCCGGCGGCCAGACGAGCGC 0.682000 0 SO:0001583 missense ENST00000284674.1 1 1 hg19 CCDS7636.1 . . . . . . . . . . C 10.87 1.472992 0.26423 . . ENSG00000154478 ENST00000284674 T 0.39229 1.09 4.02 3.02 0.34903 GPCR, rhodopsin-like superfamily (1); 0.137029 0.49916 D 0.000132 T 0.28632 0.0709 L 0.36672 1.1 0.51233 D 0.99991 B 0.09022 0.002 B 0.11329 0.006 T 0.07195 -1.0785 10 0.20046 T 0.44 -26.7238 8.7659 0.34702 0.1627:0.7461:0.0:0.0912 . 163 Q8NDV2 GPR26_HUMAN L 163 ENSP00000284674:P163L ENSP00000284674:P163L P + 2 0 GPR26 125416401 1.000000 0.71417 0.902000 0.35471 0.707000 0.40811 4.679000 0.61649 2.067000 0.61834 0.655000 0.94253 CCA TCGA-2J-AAB6-01A-11D-A40W-08 GPR26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050850.1 1 0 1 15 66 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.999910 15 64 0 35 2 -20.000000 1 1 0 0 1 1 2 3 1.835361 0 0.540000 2.400000 0.544915 0.700000 4.200000e-01 1.000000 1.000000 0.719057 0.700000 0 5.500000e-01 8.900000e-01 C10orf90 118611 broad.mit.edu 37 10 128147738 128147738 + Missense_Mutation SNP G G A rs139123090 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:128147738G>A ENST00000284694.7 - 6 1888 c.1768C>T c.(1768-1770)Cgg>Tgg p.R590W C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000480379.1_De_novo_Start_OutOfFrame|C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) TTCTTCAGCCGTTCTTGTGAG 0.498000 0 SO:0001583 missense ENST00000284694.7 1 0 hg19 CCDS31310.1 4 0.0018315018315018315 0 0.0 0 0.0 0 0.0 4 0.005277044854881266 G 17.42 3.384498 0.61845 6.81E-4 0.003837 ENSG00000154493 ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642 T;T;T;T 0.68025 -0.3;-0.04;-0.04;-0.0 5.01 4.09 0.47781 . 0.000000 0.40064 N 0.001191 T 0.72020 0.3409 M 0.65498 2.005 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;0.999 T 0.77216 -0.2669 10 0.87932 D 0 -28.7011 10.2933 0.43610 0.0:0.0:0.6407:0.3593 . 687;590;493 F5GZL2;Q96M02;Q96M02-2 .;CJ090_HUMAN;. W 543;590;493;687;590 ENSP00000284694:R590W;ENSP00000398786:R493W;ENSP00000444369:R687W;ENSP00000405995:R590W ENSP00000284694:R590W R - 1 2 C10orf90 128137728 0.993000 0.37304 0.992000 0.48379 0.861000 0.49209 2.467000 0.45093 1.289000 0.44618 0.655000 0.94253 CGG TCGA-2J-AAB6-01A-11D-A40W-08 C10orf90-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 0 0 1 109 283 0 102 0 0 0 0 102 2 0 0 0 0 0 2 1 1.000000 109 281 0 101 2 -2.248795 0 1 121412 400 59 1 1 2 3 1.835361 0 0.540000 2.400000 0.544915 0.990000 8.700000e-01 1.000000 1.000000 0.984163 0.990000 1 9.500000e-01 1 TCERG1L 256536 broad.mit.edu 37 10 133058648 133058648 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:133058648C>T ENST00000368642.4 - 4 815 c.730G>A c.(730-732)Gcc>Acc p.A244T NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) gcagcggcggcggcggtggcg 0.662000 0 SO:0001583 missense ENST00000368642.4 0 1 hg19 CCDS7662.2 . . . . . . . . . . C 9.872 1.199205 0.22121 . . ENSG00000176769 ENST00000368642 T 0.30448 1.53 4.78 2.6 0.31112 . 0.315243 0.26439 N 0.024363 T 0.14700 0.0355 N 0.19112 0.55 0.09310 N 1 B 0.25850 0.136 B 0.15052 0.012 T 0.10337 -1.0634 9 . . . -6.2774 6.1164 0.20130 0.1907:0.6978:0.0:0.1115 . 244 Q5VWI1 TCRGL_HUMAN T 244 ENSP00000357631:A244T . A - 1 0 TCERG1L 132948638 0.050000 0.20438 0.652000 0.29579 0.039000 0.13416 0.093000 0.15086 2.189000 0.69895 0.655000 0.94253 GCC TCGA-2J-AAB6-01A-11D-A40W-08 TCERG1L-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091619.2 0 0 0 7 34 0 10 0 0 0 1 0 10 2 0 0 0 0 0 2 1 0.980647 7 32 0 9 2 -14.923980 1 1 120466 9 31 1 1 2 3 1.835361 0 0.540000 2.400000 0.544915 0.660000 3.100000e-01 1.000000 1.000000 0.682207 0.660000 0 4.600000e-01 9.200000e-01 ZNF365 22891 broad.mit.edu 37 10 64136259 64136259 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:64136259A>T ENST00000395254.3 + 2 587 c.307A>T c.(307-309)Agc>Tgc p.S103C ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C|ZNF365_ENST00000466727.1_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TAACTTGTACAGCATTTCACA 0.498000 0 SO:0001583 missense ENST00000395254.3 1 1 hg19 CCDS31209.1 . . . . . . . . . . A 16.46 3.130161 0.56721 . . ENSG00000138311 ENST00000395254;ENST00000395255;ENST00000410046 T;T;T 0.35973 1.28;1.28;1.28 5.61 3.18 0.36537 . 0.272643 0.36740 N 0.002435 T 0.45418 0.1341 L 0.56769 1.78 0.24242 N 0.995357 D;D;D;D 0.76494 0.999;0.992;0.992;0.992 D;P;P;P 0.64595 0.927;0.794;0.724;0.794 T 0.33904 -0.9850 10 0.66056 D 0.02 -2.0655 2.9212 0.05770 0.536:0.2348:0.2292:0.0 . 103;103;103;118 Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4 .;.;ZN365_HUMAN;. C 103 ENSP00000378674:S103C;ENSP00000378675:S103C;ENSP00000387091:S103C ENSP00000378674:S103C S + 1 0 ZNF365 63806265 0.838000 0.29461 0.979000 0.43373 0.724000 0.41520 2.696000 0.47052 2.138000 0.66242 0.454000 0.30748 AGC TCGA-2J-AAB6-01A-11D-A40W-08 ZNF365-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048238.2 1 0 1 75 196 0 62 1 9.910017e-01 7 15 0 62 2 0 0 0 0 0 2 1 1.000000 75 196 0 62 2 -20.000000 1 1 121412 1 32 1 1 2 3 1.823038 0 0.540000 2.400000 0.542471 0.990000 8.300000e-01 1.000000 1.000000 0.974801 0.990000 1 9.200000e-01 1 GRIK4 2900 broad.mit.edu 37 11 120776148 120776148 + Silent SNP C C T rs144767530 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:120776148C>T ENST00000527524.2 + 13 1709 c.1422C>T c.(1420-1422)ggC>ggT p.G474G GRIK4_ENST00000438375.2_Silent_p.G474G NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 p.G474G(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) GCGTGTACGGCGTTCCCGAGG 0.612000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000527524.2 1 1 hg19 CCDS8433.1 TCGA-2J-AAB6-01A-11D-A40W-08 GRIK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109760.4 1 0 1 246 370 0 148 0 0 0 0 148 2 0 0 0 0 0 2 1 1.000000 244 363 0 146 2 -20.000000 1 1 121412 2 37 1 1 2 3 2.286670 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ETS1 2113 broad.mit.edu 37 11 128391808 128391808 + Splice_Site SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:128391808C>T ENST00000319397.6 - 1 391 c.82G>A c.(82-84)Gat>Aat p.D28N ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000345075.4_Splice_Site_p.D28N|ETS1_ENST00000392668.4_Intron NM_005238.3 NP_005229.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) CGCCACTCACCCGGGGAGGGG 0.652000 0 SO:0001630 splice_region_variant ENST00000319397.6 1 0 hg19 CCDS8475.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 31|31 5.090046|5.090046 0.94149|0.94149 .|. .|. ENSG00000134954|ENSG00000134954 ENST00000345075;ENST00000531611;ENST00000319397;ENST00000526145|ENST00000535549 T;T;T;T|T 0.51817|0.17691 2.93;0.69;2.59;2.93|2.26 4.72|4.72 4.72|4.72 0.59763|0.59763 .|. .|. .|. .|. .|. T|T 0.20333|0.20333 0.0489|0.0489 M|M 0.64404|0.64404 1.975|1.975 0.58432|0.58432 D|D 0.999999|0.999999 P;P|B 0.52316|0.17038 0.743;0.952|0.02 B;P|B 0.49140|0.18871 0.097;0.601|0.023 T|T 0.02901|0.02901 -1.1096|-1.1096 8|8 .|. .|. .|. .|. 14.9724|14.9724 0.71243|0.71243 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 28;28|28 P14921;Q96AC5|F5GYX9 ETS1_HUMAN;.|. N|S 28|28 ENSP00000340485:D28N;ENSP00000435666:D28N;ENSP00000324578:D28N;ENSP00000433500:D28N|ENSP00000441430:G28S .|. D|G -|- 1|1 0|0 ETS1|ETS1 127897018|127897018 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.996000|0.996000 0.88848|0.88848 4.060000|4.060000 0.57477|0.57477 2.325000|2.325000 0.78763|0.78763 0.591000|0.591000 0.81541|0.81541 GAT|GGT TCGA-2J-AAB6-01A-11D-A40W-08 ETS1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386269.2 1 0 0 134 200 0 66 1 9.999990e-01 3 32 0 66 2 0 0 0 0 0 2 1 1.000000 133 192 0 64 2 -19.603950 1 1 0 0 1 1 2 3 2.286670 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 OR4S2 219431 broad.mit.edu 37 11 55418398 55418398 + Missense_Mutation SNP G G A rs145635951 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:55418398G>A ENST00000312422.2 + 1 19 c.19G>A c.(19-21)Gta>Ata p.V7I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 45 all_epithelial(135;0.0748) AATAAACAACGTAACTGAATT 0.313000 0 SO:0001583 missense ENST00000312422.2 1 0 hg19 CCDS31505.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 7.327 0.618153 0.14129 4.6E-4 0.003123 ENSG00000174982 ENST00000312422 T 0.00672 5.89 5.05 1.02 0.19986 . 0.141107 0.32015 N 0.006710 T 0.00754 0.0025 L 0.45228 1.405 0.09310 N 1 B 0.28850 0.225 B 0.16722 0.016 T 0.49234 -0.8961 10 0.48119 T 0.1 . 7.0124 0.24869 0.513:0.0:0.487:0.0 . 7 Q8NH73 OR4S2_HUMAN I 7 ENSP00000310337:V7I ENSP00000310337:V7I V + 1 0 OR4S2 55174974 0.000000 0.05858 0.696000 0.30242 0.445000 0.32107 -0.700000 0.05081 0.530000 0.28619 0.448000 0.29417 GTA TCGA-2J-AAB6-01A-11D-A40W-08 OR4S2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391503.1 0 0 1 69 275 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 1.000000 66 271 0 109 2 -2.421942 0 1 112414 744 58 1 1 2 3 2.254921 1 0.540000 2.400000 0.633904 0.930000 7.400000e-01 1.000000 1.000000 0.925229 0.930000 1 8.300000e-01 1 MS4A1 931 broad.mit.edu 37 11 60235849 60235849 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:60235849C>T ENST00000534668.1 + 7 1091 c.802C>T c.(802-804)Caa>Taa p.Q268* MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268* NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 24 Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081) TATTCCAATCCAAGAAGAGGA 0.373000 0 SO:0001587 stop_gained ENST00000534668.1 0 1 hg19 CCDS31570.1 . . . . . . . . . . C 33 5.224347 0.95139 . . ENSG00000156738 ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939 . . . 5.32 3.34 0.38264 . 0.624912 0.17254 N 0.181052 . . . . . . 0.51482 D 0.999925 . . . . . . . . . . 0.48119 T 0.1 -22.9187 8.6631 0.34103 0.158:0.6261:0.2159:0.0 . . . . X 268;255;268;101;268 . ENSP00000314620:Q268X Q + 1 0 MS4A1 59992425 0.973000 0.33851 0.913000 0.36048 0.966000 0.64601 2.113000 0.41902 0.651000 0.30788 0.655000 0.94253 CAA TCGA-2J-AAB6-01A-11D-A40W-08 MS4A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395402.1 1 0 1 53 199 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 52 199 0 38 2 -3.813851 1 1 0 0 1 1 2 3 2.254921 1 0.540000 2.400000 0.633904 0.980000 7.500000e-01 1.000000 1.000000 0.947510 0.980000 1 8.600000e-01 1 PITPNM1 9600 broad.mit.edu 37 11 67262964 67262964 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:67262964G>A ENST00000534749.1 - 15 2615 c.2427C>T c.(2425-2427)gcC>gcT p.A809A PITPNM1_ENST00000356404.3_Silent_p.A809A|PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000526450.1_5'Flank O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 18 GGGGGTCAGTGGCCAACTCAC 0.647000 GBM(28;144 709 4607 5525) 0 SO:0001819 synonymous_variant ENST00000534749.1 0 1 hg19 CCDS31620.1 TCGA-2J-AAB6-01A-11D-A40W-08 PITPNM1-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395520.1 1 0 1 11 28 0 10 1 9.999995e-01 28 78 0 10 2 0 0 0 0 0 2 1 0.998360 8 27 0 9 2 -19.999710 1 1 0 0 1 1 2 3 2.286670 1 0.540000 2.400000 0.637795 0.990000 7.600000e-01 1.000000 1.000000 0.981546 0.990000 1 9.900000e-01 1 KSR2 283455 broad.mit.edu 37 12 117914339 117914339 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:117914339G>A ENST00000339824.5 - 17 3239 c.2512C>T c.(2512-2514)Cgc>Tgc p.R838C KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R809C Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACAGCTGGCGGATGATCTCT 0.582000 0 SO:0001583 missense ENST00000339824.5 1 1 hg19 . . . . . . . . . . G 15.89 2.965842 0.53507 . . ENSG00000171435 ENST00000425217;ENST00000339824 D;D 0.83419 -1.72;-1.72 5.69 4.81 0.61882 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.057415 0.64402 D 0.000001 D 0.85217 0.5646 M 0.89904 3.07 0.58432 D 0.999999 B 0.19935 0.04 B 0.19391 0.025 D 0.83736 0.0201 10 0.66056 D 0.02 . 10.7666 0.46297 0.1442:0.0:0.8558:0.0 . 838 Q6VAB6 KSR2_HUMAN C 809;838 ENSP00000389715:R809C;ENSP00000339952:R838C ENSP00000339952:R838C R - 1 0 KSR2 116398722 1.000000 0.71417 1.000000 0.80357 0.774000 0.43823 8.061000 0.89467 1.407000 0.46875 -0.142000 0.14014 CGC TCGA-2J-AAB6-01A-11D-A40W-08 KSR2-001 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000401987.2 1 0 1 11 41 0 16 0 0 0 0 16 2 0 0 0 0 0 2 1 0.998946 11 41 0 16 2 -3.657225 1 1 121006 1 29 1 2 2 4 1.949391 0 0.540000 2.400000 0.574468 0.890000 4.800000e-01 1.000000 1.000000 0.854298 0.890000 1 6.600000e-01 1 PLEKHA5 54477 broad.mit.edu 37 12 19501393 19501393 + Nonsense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:19501393G>T ENST00000299275.6 + 19 2467 c.2461G>T c.(2461-2463)Gaa>Taa p.E821* PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron NM_019012.5 NP_061885.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGAAGTTGATGAATCTAATGG 0.348000 Pancreas(196;329 2193 11246 14234 19524) 0 SO:0001587 stop_gained ENST00000299275.6 0 1 hg19 CCDS8682.1 . . . . . . . . . . G 42 9.521210 0.99193 . . ENSG00000052126 ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974 . . . 5.09 5.09 0.68999 . 0.284028 0.37136 N 0.002230 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.25106 T 0.35 -19.7244 18.8652 0.92289 0.0:0.0:1.0:0.0 . . . . X 884;879;983;987;821;579;879;810;803;776 . ENSP00000299275:E821X E + 1 0 PLEKHA5 19392660 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 8.173000 0.89680 2.489000 0.83994 0.563000 0.77884 GAA TCGA-2J-AAB6-01A-11D-A40W-08 PLEKHA5-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000397013.1 0 0 0 5 305 0 81 0 7.672791e-02 0 23 0 81 2 0 0 0 0 0 2 1 0.935342 4 301 0 81 2 -4.151663 1 1 0 0 1 1 3 4 2.006261 1 0.540000 2.400000 0.660867 0.100000 2.000000e-02 1.000000 0.070000 0.292132 0.100000 0 5.000000e-02 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b 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-2J-AAB6-01A-11D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 101 90 0 82 1 9.855492e-01 7 2 0 82 2 1 1 178 157 0 412 2 1 1.000000 101 90 0 81 2 -20.000000 1 1 0 0 1 0 4 4 2.493078 1 0.540000 2.400000 0.679978 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 CAPRIN2 65981 broad.mit.edu 37 12 30873750 30873750 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:30873750G>C ENST00000298892.5 - 12 2893 c.2143C>G c.(2143-2145)Cct>Gct p.P715A CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A NM_023925.3 NP_076414.2 caprin family member 2 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTTACCTCAGGAGTCTCTGAG 0.373000 0 SO:0001583 missense ENST00000298892.5 0 1 hg19 CCDS8720.1 . . . . . . . . . . G 15.66 2.900537 0.52227 . . ENSG00000110888 ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108 T;T;T;T;T;T 0.20738 2.05;2.05;2.05;2.05;2.05;2.05 5.45 3.56 0.40772 . 0.402823 0.26041 N 0.026690 T 0.18087 0.0434 L 0.46157 1.445 0.37841 D 0.92906 B;B;B;B 0.24721 0.11;0.012;0.015;0.026 B;B;B;B 0.22152 0.028;0.027;0.016;0.038 T 0.06427 -1.0827 10 0.09338 T 0.73 -5.5419 14.5087 0.67769 0.0:0.42:0.58:0.0 . 715;715;715;715 Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2 .;CAPR2_HUMAN;.;. A 461;715;715;382;715;634 ENSP00000415407:P461A;ENSP00000298892:P715A;ENSP00000251071:P715A;ENSP00000309785:P382A;ENSP00000391479:P715A;ENSP00000438010:P634A ENSP00000251071:P715A P - 1 0 CAPRIN2 30765017 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 1.051000 0.30417 0.619000 0.30197 -0.282000 0.10007 CCT TCGA-2J-AAB6-01A-11D-A40W-08 CAPRIN2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000402778.1 0 0 0 7 313 0 105 0 1.713652e-02 1 7 0 105 2 0 0 0 0 0 2 1 0.980909 7 313 0 101 2 -2.931896 1 1 0 0 1 0 2 2 1.944943 1 0.540000 2.400000 0.540000 0.080000 3.000000e-02 0.160000 0.080000 0.091758 0.080000 0 5.000000e-02 1.200000e-01 PRMT8 56341 broad.mit.edu 37 12 3701463 3701463 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:3701463G>A ENST00000382622.3 + 9 1436 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 p.R349Q(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTCACTGTCCGGAGGGGGGAG 0.542000 1 Substitution - Missense(1) SO:0001583 missense ENST00000382622.3 0 1 hg19 CCDS8521.2 . . . . . . . . . . G 15.73 2.920919 0.52653 . . ENSG00000111218 ENST00000452611;ENST00000382622 T;T 0.76316 -1.01;-1.01 5.24 5.24 0.73138 . 0.045992 0.85682 D 0.000000 T 0.68035 0.2957 N 0.25647 0.755 0.43476 D 0.995693 B;B 0.18863 0.031;0.01 B;B 0.16722 0.016;0.007 T 0.63462 -0.6632 10 0.37606 T 0.19 . 16.3206 0.82950 0.0:0.0:1.0:0.0 . 340;349 Q9NR22-2;Q9NR22 .;ANM8_HUMAN Q 340;349 ENSP00000414507:R340Q;ENSP00000372067:R349Q ENSP00000372067:R349Q R + 2 0 PRMT8 3571724 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.377000 0.52425 2.440000 0.82611 0.561000 0.74099 CGG TCGA-2J-AAB6-01A-11D-A40W-08 PRMT8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250297.2 0 0 0 5 491 0 157 0 0 0 0 157 2 0 0 0 0 0 2 1 0.934432 5 481 0 154 2 -2.030957 0 1 121412 8 45 1 0 2 2 1.955916 1 0.540000 2.400000 0.540000 0.030000 0 0.080000 0.040000 0.044247 0.030000 0 1.000000e-02 6.000000e-02 CENPJ 55835 broad.mit.edu 37 13 25466782 25466782 + Splice_Site SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:25466782G>A ENST00000381884.4 - 10 3400 c.3215C>T c.(3214-3216)gCg>gTg p.A1072V CENPJ_ENST00000545981.1_Splice_Site_p.A1072V NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 47 Lung SC(185;0.0225)|Breast(139;0.0602) CCTGCCTACCGCAAGCTTGTC 0.522000 0 SO:0001630 splice_region_variant ENST00000381884.4 1 0 hg19 CCDS9310.1 . . . . . . . . . . G 3.659 -0.070010 0.07228 . . ENSG00000151849 ENST00000381884;ENST00000545981;ENST00000445729 T;T 0.34667 1.35;1.82 4.42 0.612 0.17591 . 1.551700 0.03144 N 0.167020 T 0.19208 0.0461 N 0.08118 0 0.09310 N 1 B;B 0.13594 0.008;0.005 B;B 0.11329 0.006;0.003 T 0.15122 -1.0448 10 0.31617 T 0.26 . 3.6362 0.08150 0.5195:0.0:0.3135:0.1669 . 153;1072 Q5T6R6;Q9HC77 .;CENPJ_HUMAN V 1072 ENSP00000371308:A1072V;ENSP00000441090:A1072V ENSP00000371308:A1072V A - 2 0 CENPJ 24364782 0.001000 0.12720 0.342000 0.25602 0.003000 0.03518 -0.331000 0.07914 0.206000 0.20587 -0.391000 0.06502 GCG TCGA-2J-AAB6-01A-11D-A40W-08 CENPJ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044209.1 1 0 1 91 410 0 80 0 4.446425e-01 0 8 0 80 2 0 0 0 0 0 2 1 1.000000 87 398 0 78 2 -20.000000 1 1 121412 1 34 1 2 2 4 2.750899 1 0.540000 2.400000 0.699189 0.990000 8.400000e-01 1.000000 1.000000 0.976214 0.990000 1 9.300000e-01 1 FRY 10129 broad.mit.edu 37 13 32776604 32776604 + Missense_Mutation SNP G G A rs138780336 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:32776604G>A ENST00000380250.3 + 31 4454 c.3958G>A c.(3958-3960)Gcc>Acc p.A1320T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 132 Lung SC(185;0.0271) CGTGTCACTTGCCCTCTTGTC 0.493000 0 SO:0001583 missense ENST00000380250.3 1 0 hg19 CCDS41875.1 7 0.003205128205128205 0 0.0 0 0.0 0 0.0 7 0.009234828496042216 G 2.769 -0.256043 0.05829 7.5E-4 0.008886 ENSG00000073910 ENST00000380250;ENST00000380257 T 0.22134 1.97 5.39 0.368 0.16146 . 0.470626 0.24400 N 0.038856 T 0.06234 0.0161 N 0.08118 0 0.19775 N 0.999957 B 0.10296 0.003 B 0.13407 0.009 T 0.27872 -1.0061 10 0.32370 T 0.25 . 7.9252 0.29870 0.2558:0.0:0.6374:0.1067 . 1320 Q5TBA9 FRY_HUMAN T 1320;159 ENSP00000369600:A1320T ENSP00000369600:A1320T A + 1 0 FRY 31674604 0.044000 0.20184 0.003000 0.11579 0.002000 0.02628 0.854000 0.27791 -0.182000 0.10602 -1.644000 0.00765 GCC TCGA-2J-AAB6-01A-11D-A40W-08 FRY-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044405.1 0 0 1 79 374 0 86 0 8.248782e-02 0 3 0 86 2 0 0 0 0 0 2 1 1.000000 78 371 0 86 2 -2.742349 1 1 120918 1040 63 1 2 2 4 2.750899 1 0.540000 2.400000 0.699189 0.980000 7.900000e-01 1.000000 1.000000 0.957021 0.980000 1 8.800000e-01 1 CKAP2 26586 broad.mit.edu 37 13 53035900 53035900 + Silent SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:53035900A>G ENST00000378037.5 + 4 1032 c.942A>G c.(940-942)ctA>ctG p.L314L CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 cytoskeleton associated protein 2 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) ATAAGACTCTATCAAGATCCA 0.388000 0 SO:0001819 synonymous_variant ENST00000378037.5 0 1 hg19 CCDS41893.1 TCGA-2J-AAB6-01A-11D-A40W-08 CKAP2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000355010.2 0 0 0 8 598 0 112 0 1.033552e-01 0 35 0 112 2 0 0 0 0 0 2 1 0.989295 8 596 0 112 2 -6.558445 1 1 0 0 1 2 2 4 2.750899 1 0.540000 2.400000 0.699189 0.070000 1.000000e-02 0.160000 0.080000 0.093031 0.070000 0 4.000000e-02 1.200000e-01 PCDH9 5101 broad.mit.edu 37 13 66878849 66878849 + Missense_Mutation SNP T T A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:66878849T>A ENST00000377865.2 - 4 3786 c.3652A>T c.(3652-3654)Aat>Tat p.N1218Y PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1218Y Q9HC56 PCDH9_HUMAN protocadherin 9 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GACTTCAGATTTGCCAGAGGA 0.438000 0 SO:0001583 missense ENST00000377865.2 1 1 hg19 CCDS9444.1 . . . . . . . . . . T 15.50 2.852432 0.51270 . . ENSG00000184226 ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454 T;T;T;T 0.55588 0.58;0.58;0.51;0.51 6.05 6.05 0.98169 . 0.000000 0.50627 D 0.000113 T 0.43389 0.1245 N 0.19112 0.55 0.41796 D 0.989894 B;B;B 0.23442 0.085;0.042;0.085 B;B;B 0.28139 0.064;0.086;0.064 T 0.36890 -0.9729 10 0.56958 D 0.05 . 16.5932 0.84781 0.0:0.0:0.0:1.0 . 1176;1184;1218 B7ZM79;Q9HC56-2;Q9HC56 .;.;PCDH9_HUMAN Y 1218;1218;1184;1184 ENSP00000442186:N1218Y;ENSP00000367096:N1218Y;ENSP00000401699:N1184Y;ENSP00000332060:N1184Y ENSP00000332060:N1184Y N - 1 0 PCDH9 65776850 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.698000 0.84413 2.320000 0.78422 0.528000 0.53228 AAT TCGA-2J-AAB6-01A-11D-A40W-08 PCDH9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276387.1 1 0 1 44 285 0 57 0 0 0 0 57 2 0 0 0 0 0 2 1 1.000000 44 284 0 56 2 -20.000000 1 1 0 0 1 2 2 4 2.750899 1 0.540000 2.400000 0.699189 0.760000 5.600000e-01 1.000000 0.750000 0.770280 0.760000 0 6.500000e-01 8.800000e-01 SALL2 6297 broad.mit.edu 37 14 21991588 21991588 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:21991588C>T ENST00000327430.3 - 2 2568 c.2274G>A c.(2272-2274)ccG>ccA p.P758P AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.P621P NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 43 all_cancers(95;0.000662) ACTCCTCTTCCGGTGATGGCT 0.577000 0 SO:0001819 synonymous_variant ENST00000327430.3 1 1 hg19 CCDS32045.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 5.549 0.286213 0.10513 0.0 1.16E-4 ENSG00000165821 ENST00000546363 . . . 4.76 -4.5 0.03493 . . . . . T 0.30198 0.0757 . . . 0.33671 D 0.61096 . . . . . . T 0.38023 -0.9680 4 . . . -4.7548 2.0412 0.03550 0.1233:0.2335:0.3794:0.2638 . . . . Q 617 . . R - 2 0 SALL2 21061428 0.000000 0.05858 0.236000 0.24074 0.786000 0.44442 -1.953000 0.01526 -1.030000 0.03312 -1.264000 0.01445 CGG TCGA-2J-AAB6-01A-11D-A40W-08 SALL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401242.1 1 0 1 33 164 0 35 0 6.692840e-01 0 13 0 35 2 0 0 0 0 0 2 1 1.000000 33 161 0 34 2 -3.031295 1 1 121412 4 38 1 1 2 3 2.230265 1 0.540000 2.400000 0.637024 0.780000 5.600000e-01 1.000000 1.000000 0.795850 0.780000 0 6.700000e-01 9.200000e-01 DHRS2 10202 broad.mit.edu 37 14 24108419 24108419 + Missense_Mutation SNP C C T rs74036809 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:24108419C>T ENST00000250383.6 + 3 648 c.172C>T c.(172-174)Cgg>Tgg p.R58W DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 14 ACGTCTGGCCCGGGACGGGGC 0.642000 0 SO:0001583 missense ENST00000250383.6 1 1 hg19 CCDS9604.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 . 13.16 2.155684 0.38021 . . ENSG00000100867 ENST00000432832;ENST00000250383;ENST00000344777 T;T;T 0.45276 0.9;0.9;0.9 4.91 0.99 0.19807 NAD(P)-binding domain (1); 0.667396 0.15085 N 0.281419 T 0.52435 0.1734 M 0.78285 2.405 0.22591 N 0.998957 D;D;D;P 0.69078 0.991;0.978;0.997;0.875 P;P;P;B 0.56648 0.773;0.773;0.803;0.193 T 0.43782 -0.9370 10 0.87932 D 0 . 5.0764 0.14634 0.2895:0.5478:0.0:0.1626 . 36;58;58;36 Q13268;C9JZP6;D3DS54;Q13268-2 DHRS2_HUMAN;.;.;. W 58 ENSP00000401213:R58W;ENSP00000250383:R58W;ENSP00000344674:R58W ENSP00000250383:R58W R + 1 2 DHRS2 23178259 0.112000 0.22096 0.511000 0.27724 0.002000 0.02628 0.432000 0.21461 0.007000 0.14760 -0.350000 0.07774 CGG TCGA-2J-AAB6-01A-11D-A40W-08 DHRS2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000071842.2 1 0 1 157 583 0 170 0 9.685178e-01 0 23 0 170 2 0 0 0 0 0 2 1 1.000000 156 572 0 165 2 -3.145736 1 1 121412 1 36 1 1 2 3 2.214976 1 0.540000 2.400000 0.632324 0.980000 8.400000e-01 1.000000 1.000000 0.966183 0.980000 1 9.100000e-01 1 PRPF39 55015 broad.mit.edu 37 14 45578898 45578898 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:45578898T>C ENST00000355765.6 + 8 1261 c.1091T>C c.(1090-1092)aTt>aCt p.I364T SNORD127_ENST00000458892.1_RNA NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 12 GAATTTGAAATTGAAAATGGG 0.333000 0 SO:0001583 missense ENST00000355765.6 1 1 hg19 CCDS9682.2 . . . . . . . . . . T 15.07 2.725036 0.48833 2.27E-4 0.0 ENSG00000185246 ENST00000355765 T 0.34072 1.38 5.72 5.72 0.89469 . 0.099811 0.64402 D 0.000003 T 0.44222 0.1283 M 0.61703 1.905 0.80722 D 1 P 0.38129 0.619 P 0.46299 0.511 T 0.24870 -1.0148 10 0.14252 T 0.57 -0.4776 14.8233 0.70091 0.0:0.0:0.0:1.0 . 364 Q86UA1 PRP39_HUMAN T 364 ENSP00000348010:I364T ENSP00000348010:I364T I + 2 0 PRPF39 44648648 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.845000 0.86875 2.184000 0.69523 0.383000 0.25322 ATT TCGA-2J-AAB6-01A-11D-A40W-08 PRPF39-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319683.2 1 0 1 13 67 0 18 1 9.632648e-01 12 20 0 18 2 0 0 0 0 0 2 1 0.999688 13 67 0 18 2 -19.999770 1 1 0 0 1 1 2 3 2.243838 1 0.540000 2.400000 0.633115 0.780000 4.400000e-01 1.000000 1.000000 0.782465 0.780000 0 5.900000e-01 1 PCNX 22990 broad.mit.edu 37 14 71500186 71500186 + Missense_Mutation SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:71500186T>G ENST00000304743.2 + 17 4045 c.3599T>G c.(3598-3600)aTt>aGt p.I1200S PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S|PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) CTTTTCTCCATTTTTTGTGGT 0.338000 0 SO:0001583 missense ENST00000304743.2 1 1 hg19 CCDS9806.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 20.1|20.1 3.934512|3.934512 0.73442|0.73442 .|. .|. ENSG00000100731|ENSG00000100731 ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984 .|T;T;T .|0.11063 .|3.25;3.23;2.81 5.72|5.72 5.72|5.72 0.89469|0.89469 .|. .|0.547984 .|0.21165 .|N .|0.079081 T|T 0.14743|0.14743 0.0356|0.0356 L|L 0.43923|0.43923 1.385|1.385 0.25807|0.25807 N|N 0.984448|0.984448 .|B;B;B .|0.21606 .|0.039;0.037;0.058 .|B;B;B .|0.31191 .|0.125;0.053;0.085 T|T 0.13442|0.13442 -1.0509|-1.0509 5|10 .|0.87932 .|D .|0 .|. 15.9971|15.9971 0.80260|0.80260 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|1200;1089;1200 .|Q96RV3-3;B2RTR6;Q96RV3 .|.;.;PCX1_HUMAN V|S 259|1200;1200;1089 .|ENSP00000304192:I1200S;ENSP00000238570:I1200S;ENSP00000396617:I1089S .|ENSP00000238570:I1200S F|I +|+ 1|2 0|0 PCNX|PCNX 70569939|70569939 1.000000|1.000000 0.71417|0.71417 0.286000|0.286000 0.24833|0.24833 0.995000|0.995000 0.86356|0.86356 7.436000|7.436000 0.80404|0.80404 2.186000|2.186000 0.69663|0.69663 0.528000|0.528000 0.53228|0.53228 TTT|ATT TCGA-2J-AAB6-01A-11D-A40W-08 PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412479.1 1 0 1 83 296 0 83 0 6.793613e-01 0 10 0 83 2 0 0 0 0 0 2 1 1.000000 82 294 0 83 2 -20.000000 1 1 0 0 1 1 2 3 2.243838 1 0.540000 2.400000 0.633115 0.990000 8.300000e-01 1.000000 1.000000 0.972186 0.990000 1 9.200000e-01 1 YLPM1 56252 broad.mit.edu 37 14 75248343 75248343 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:75248343A>G ENST00000552421.1 + 4 1721 c.1597A>G c.(1597-1599)Atg>Gtg p.M533V YLPM1_ENST00000325680.7_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron P49750 YLPM1_HUMAN YLP motif containing 1 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) TCTACCTACAATGCCCCCTCC 0.527000 0 SO:0001583 missense ENST00000552421.1 0 1 hg19 . . . . . . . . . . A 11.07 1.531914 0.27387 . . ENSG00000119596 ENST00000552421;ENST00000325680;ENST00000423680 . . . 5.84 4.67 0.58626 . . . . . T 0.39572 0.1083 N 0.24115 0.695 0.80722 D 1 B 0.15930 0.015 B 0.14023 0.01 T 0.14282 -1.0478 8 0.12430 T 0.62 . 10.5131 0.44874 0.8549:0.0:0.0:0.1451 . 533 P49750-4 . V 533;533;246 . ENSP00000324463:M533V M + 1 0 YLPM1 74318096 0.874000 0.30092 1.000000 0.80357 0.994000 0.84299 1.654000 0.37334 1.006000 0.39211 0.482000 0.46254 ATG TCGA-2J-AAB6-01A-11D-A40W-08 YLPM1-008 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000404450.1 0 0 0 11 715 0 135 0 9.677420e-03 0 9 0 135 2 0 0 0 0 0 2 1 0.997973 11 689 0 130 2 -3.322154 1 1 121060 5 41 1 1 2 3 2.243838 1 0.540000 2.400000 0.633115 0.070000 3.000000e-02 1.000000 0.060000 0.119925 0.070000 0 4.000000e-02 1.100000e-01 PTPN21 11099 broad.mit.edu 37 14 88946299 88946299 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:88946299G>A ENST00000556564.1 - 13 1760 c.1476C>T c.(1474-1476)agC>agT p.S492S PTPN21_ENST00000328736.3_Silent_p.S492S NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 45 TCTCGGGCTGGCTGTAGACCA 0.677000 0 SO:0001819 synonymous_variant ENST00000556564.1 0 1 hg19 CCDS9884.1 TCGA-2J-AAB6-01A-11D-A40W-08 PTPN21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410303.1 0 0 0 5 268 0 55 0 1.628116e-03 0 3 0 55 2 0 0 0 0 0 2 1 0.934398 3 264 0 54 2 -6.152917 1 0 0 0 1 1 2 3 2.243838 1 0.540000 2.400000 0.633115 0.090000 2.000000e-02 1.000000 0.090000 0.143305 0.090000 0 5.000000e-02 1.500000e-01 OR4F6 390648 broad.mit.edu 37 15 102345944 102345944 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:102345944G>A ENST00000328882.4 + 1 43 c.22G>A c.(22-24)Gtg>Atg p.V8M NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAATCACTCTGTGGTCTCTGA 0.473000 0 SO:0001583 missense ENST00000328882.4 1 1 hg19 CCDS32341.1 . . . . . . . . . . . 7.495 0.651526 0.14516 . . ENSG00000184140 ENST00000328882 T 0.20069 2.1 4.68 0.44 0.16572 . 0.780148 0.10877 N 0.624199 T 0.17365 0.0417 L 0.46670 1.46 0.24977 N 0.991629 B 0.25351 0.124 B 0.25405 0.06 T 0.26326 -1.0106 10 0.38643 T 0.18 . 6.7176 0.23312 0.4434:0.0:0.5566:0.0 . 8 Q8NGB9 OR4F6_HUMAN M 8 ENSP00000327525:V8M ENSP00000327525:V8M V + 1 0 OR4F6 100163467 0.000000 0.05858 0.314000 0.25224 0.168000 0.22595 0.041000 0.13927 -0.002000 0.14469 0.591000 0.81541 GTG TCGA-2J-AAB6-01A-11D-A40W-08 OR4F6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000417593.1 1 0 1 86 234 0 86 0 0 0 0 86 2 0 0 0 0 0 2 1 1.000000 85 229 0 86 2 -20.000000 1 1 0 0 1 0 0 0 1.785055 0 0.540000 2.400000 0.534978 0.970000 8.000000e-01 1.000000 1.000000 0.957006 0.970000 1 8.900000e-01 1 DUOXA2 405753 broad.mit.edu 37 15 45410081 45410081 + Missense_Mutation SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:45410081T>G ENST00000323030.5 + 6 1222 c.937T>G c.(937-939)Tta>Gta p.L313V DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000267803.4_Intron NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) TCTCCCAGACTTAAAATGTAT 0.627000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000323030.5 1 1 hg19 CCDS10118.2 . . . . . . . . . . T 12.13 1.847058 0.32606 . . ENSG00000140274 ENST00000323030 T 0.58060 0.36 4.74 0.676 0.17958 . 1.222260 0.05905 N 0.630659 T 0.29684 0.0741 N 0.08118 0 0.09310 N 0.999996 B 0.22800 0.075 B 0.19148 0.024 T 0.19976 -1.0289 10 0.34782 T 0.22 -0.0761 4.5387 0.12047 0.3478:0.0:0.18:0.4722 . 313 Q1HG44 DOXA2_HUMAN V 313 ENSP00000319705:L313V ENSP00000319705:L313V L + 1 2 DUOXA2 43197373 0.002000 0.14202 0.005000 0.12908 0.048000 0.14542 0.541000 0.23207 0.346000 0.23899 0.459000 0.35465 TTA TCGA-2J-AAB6-01A-11D-A40W-08 DUOXA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254142.1 1 0 1 119 280 0 125 1 9.963306e-01 2 21 0 125 2 0 0 0 0 0 2 1 1.000000 115 275 0 122 2 -20.000000 1 1 0 0 1 0 0 0 1.785055 0 0.540000 2.400000 0.534978 0.990000 9.200000e-01 1.000000 1.000000 0.994786 0.990000 1 9.900000e-01 1 PIF1 80119 broad.mit.edu 37 15 65116102 65116102 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:65116102G>A ENST00000268043.4 - 2 527 c.433C>T c.(433-435)Cgc>Tgc p.R145C PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C PIF1 5'-to-3' DNA helicase 2 ACGAAGTCGCGGGGCCGCGGG 0.761000 0 SO:0001583 missense ENST00000268043.4 0 1 hg19 CCDS10195.2 . . . . . . . . . . G 14.41 2.528021 0.44969 . . ENSG00000140451 ENST00000268043;ENST00000333425 T;T 0.78364 -0.14;-1.17 4.47 4.47 0.54385 . 0.272984 0.35677 N 0.003051 T 0.80385 0.4613 M 0.61703 1.905 0.53688 D 0.999977 D;D 0.69078 0.968;0.997 B;P 0.49999 0.406;0.628 T 0.83148 -0.0105 10 0.59425 D 0.04 -11.2753 15.0059 0.71513 0.0:0.0:1.0:0.0 . 145;145 Q9H611-2;Q9H611 .;PIF1_HUMAN C 145 ENSP00000268043:R145C;ENSP00000328174:R145C ENSP00000268043:R145C R - 1 0 PIF1 62903155 1.000000 0.71417 0.996000 0.52242 0.071000 0.16799 4.455000 0.60075 2.188000 0.69820 0.313000 0.20887 CGC TCGA-2J-AAB6-01A-11D-A40W-08 PIF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256533.1 1 0 0 15 30 0 8 0 0 1 0 0 8 2 0 0 0 0 0 2 1 0.999941 15 28 0 8 2 -20.000000 1 1 0 0 1 0 0 0 1.785055 0 0.540000 2.400000 0.534978 0.990000 7.600000e-01 1.000000 1.000000 0.977838 0.990000 1 9.700000e-01 1 ZNF500 26048 broad.mit.edu 37 16 4803036 4803036 + Missense_Mutation SNP C C T rs142409847 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:4803036C>T ENST00000219478.6 - 6 1083 c.784G>A c.(784-786)Ggc>Agc p.G262S ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S|ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA O60304 ZN500_HUMAN zinc finger protein 500 21 CCATCACCGCCGTCCTCCAAC 0.587000 0 SO:0001583 missense ENST00000219478.6 1 1 hg19 CCDS32383.1 . . . . . . . . . . C 9.305 1.054035 0.19907 0.0 1.16E-4 ENSG00000103199 ENST00000545009;ENST00000219478 T;T 0.06294 3.41;3.32 4.04 3.08 0.35506 Krueppel-associated box (1); . . . . T 0.03305 0.0096 N 0.14661 0.345 0.09310 N 1 B;B 0.33755 0.424;0.27 B;B 0.17098 0.017;0.017 T 0.45629 -0.9248 9 0.23891 T 0.37 . 9.1061 0.36698 0.0:0.8891:0.0:0.1109 . 262;262 B4DNN9;O60304 .;ZN500_HUMAN S 262 ENSP00000445714:G262S;ENSP00000219478:G262S ENSP00000219478:G262S G - 1 0 ZNF500 4743037 0.001000 0.12720 0.048000 0.18961 0.011000 0.07611 1.284000 0.33249 0.694000 0.31654 0.655000 0.94253 GGC TCGA-2J-AAB6-01A-11D-A40W-08 ZNF500-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432461.1 1 0 1 43 164 0 49 1 6.491619e-01 3 7 0 49 2 0 0 0 0 0 2 1 1.000000 41 158 0 47 2 -3.316967 1 1 120886 5 38 1 0 2 2 1.776729 1 0.540000 2.400000 0.540000 0.760000 5.700000e-01 0.970000 0.760000 0.775649 0.760000 0 6.600000e-01 8.800000e-01 HYDIN 54768 broad.mit.edu 37 16 70866926 70866926 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:70866926C>A ENST00000393567.2 - 80 13874 c.13724G>T c.(13723-13725)aGc>aTc p.S4575I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 43 Ovarian(137;0.0654) TTCTTCTGGGCTAATGGAGAA 0.408000 0 SO:0001583 missense ENST00000393567.2 0 1 hg19 CCDS59269.1 . . . . . . . . . . C 13.46 2.244960 0.39697 . . ENSG00000157423 ENST00000393567;ENST00000316490 T 0.01092 5.35 4.62 -0.853 0.10709 . 0.182103 0.24965 U 0.034191 T 0.01835 0.0058 M 0.78801 2.425 0.09310 N 1 B 0.32862 0.387 B 0.34418 0.182 T 0.38436 -0.9661 10 0.34782 T 0.22 . 8.4169 0.32676 0.0:0.4301:0.424:0.1459 . 4574 F8WD23 . I 4575;4574 ENSP00000377197:S4575I ENSP00000313052:S4574I S - 2 0 HYDIN 69424427 0.000000 0.05858 0.991000 0.47740 0.958000 0.62258 -0.587000 0.05780 0.231000 0.21079 0.511000 0.50034 AGC TCGA-2J-AAB6-01A-11D-A40W-08 HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 0 0 0 28 85 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 0.999999 15 61 0 52 2 -20.000000 1 1 0 0 1 0 2 2 1.807789 1 0.540000 2.400000 0.540000 0.910000 6.400000e-01 1.000000 1.000000 0.896391 0.910000 1 7.700000e-01 1 ADAD2 161931 broad.mit.edu 37 16 84228145 84228145 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:84228145G>A ENST00000315906.5 + 2 568 c.516G>A c.(514-516)gcG>gcA p.A172A RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A244A|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA NM_001145400.1 NP_001138872.1 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 13 AGCAGGCAGCGCTCTCTGCCC 0.642000 0 SO:0001819 synonymous_variant ENST00000315906.5 0 1 hg19 CCDS45536.1 . . . . . . . . . . G 1.347 -0.592612 0.03799 . . ENSG00000250685 ENST00000536986 . . . 4.15 -8.3 0.01005 . 0.000000 0.51477 D 0.000099 T 0.12050 0.0293 . . . 0.23791 N 0.996838 P 0.37997 0.614 B 0.29785 0.107 T 0.04825 -1.0924 8 0.87932 D 0 -25.5618 1.4709 0.02415 0.2479:0.1681:0.4182:0.1658 . 73 Q6ZW55 . V 59 . ENSP00000444170:A59V A - 2 0 AC009123.1 82785646 0.000000 0.05858 0.003000 0.11579 0.170000 0.22686 -3.759000 0.00373 -2.298000 0.00660 -1.291000 0.01355 GCG TCGA-2J-AAB6-01A-11D-A40W-08 ADAD2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433385.1 1 0 0 37 32 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 1.000000 36 31 0 18 2 -20.000000 1 1 121292 20 39 1 0 2 2 1.807789 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 MRPL45 84311 broad.mit.edu 37 17 36478035 36478035 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:36478035C>T ENST00000312513.5 + 7 848 c.687C>T c.(685-687)ggC>ggT p.G229G NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACCGGTTTGGCCGGTTGATGT 0.438000 0 SO:0001819 synonymous_variant ENST00000312513.5 0 1 hg19 CCDS11326.1 TCGA-2J-AAB6-01A-11D-A40W-08 MRPL45-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256792.3 0 0 0 5 420 0 139 0 1.423286e-01 0 46 0 139 2 0 0 0 0 0 2 1 0.932649 5 407 0 139 2 -1.932933 0 1 0 0 1 0 2 2 1.795413 1 0.540000 2.400000 0.540000 0.040000 0 0.100000 0.040000 0.051799 0.040000 0 2.000000e-02 7.000000e-02 STXBP4 252983 broad.mit.edu 37 17 53158469 53158469 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:53158469C>T ENST00000376352.2 + 16 1621 c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 19 AAGGAATGGACGTAGCATCCC 0.398000 0 SO:0001583 missense ENST00000376352.2 1 1 hg19 CCDS11584.2 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 15.85 2.954687 0.53293 . . ENSG00000166263 ENST00000376352;ENST00000434978 T;T 0.48201 0.82;0.82 5.47 4.5 0.54988 . 0.308438 0.36234 N 0.002705 T 0.50069 0.1594 M 0.63428 1.95 0.80722 D 1 D;D 0.60160 0.973;0.987 B;P 0.45610 0.325;0.487 T 0.58312 -0.7658 10 0.87932 D 0 -5.9541 13.5669 0.61824 0.1561:0.8439:0.0:0.0 . 450;472 E7EPP7;Q6ZWJ1 .;STXB4_HUMAN C 472;450 ENSP00000365530:R472C;ENSP00000391087:R450C ENSP00000365530:R472C R + 1 0 STXBP4 50513468 0.902000 0.30710 0.162000 0.22713 0.460000 0.32559 2.902000 0.48703 1.513000 0.48852 0.650000 0.86243 CGT TCGA-2J-AAB6-01A-11D-A40W-08 STXBP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157184.1 1 0 1 67 161 0 105 0 8.831169e-02 0 2 0 105 2 0 0 0 0 0 2 1 1.000000 65 161 0 105 2 -20.000000 1 1 121358 5 39 1 0 2 2 1.795413 1 0.540000 2.400000 0.540000 0.990000 8.700000e-01 1.000000 1.000000 0.987616 0.990000 1 9.700000e-01 1 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:7577120C>T ENST00000269305.4 - 8 1007 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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 669 Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1) GRCh37 CM004342|CM010472|CM920677 TP53 M rs28934576 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 18.03 3.532510 0.64972 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99868 -7.32;-7.32;-7.32;-7.32;-7.32;-7.32 4.92 4.92 0.64577 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99822 0.9921 M 0.79475 2.455 0.80722 A 1 P;D;P;P 0.89917 0.631;1.0;0.831;0.48 B;D;P;B 0.77004 0.274;0.989;0.516;0.242 D 0.96531 0.9393 9 0.72032 D 0.01 -11.9995 15.662 0.77193 0.0:1.0:0.0:0.0 rs28934576 273;273;273;273 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. H 273;273;273;273;273;262;141 ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H ENSP00000269305:R273H R - 2 0 TP53 7517845 1.000000 0.71417 0.068000 0.19968 0.665000 0.39181 7.587000 0.82613 2.556000 0.86216 0.462000 0.41574 CGT TCGA-2J-AAB6-01A-11D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 53 59 0 33 1 1 30 17 0 33 2 1 1 529 414 1 1036 6 1 1.000000 53 57 0 33 2 -20.000000 1 1 121412 3 34 1 0 2 2 1.797329 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 GUCY2D 3000 broad.mit.edu 37 17 7917216 7917216 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:7917216G>A ENST00000254854.4 + 12 2432 c.2282G>A c.(2281-2283)cGg>cAg p.R761Q NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 1 Prostate(122;0.157) CAGAGGGTGCGGAGCCCCCCT 0.622000 0 SO:0001583 missense ENST00000254854.4 0 1 hg19 CCDS11127.1 . . . . . . . . . . G 13.01 2.109704 0.37242 . . ENSG00000132518 ENST00000254854 D 0.82619 -1.63 5.44 -5.28 0.02755 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.898770 0.09283 N 0.823427 T 0.71745 0.3376 L 0.48642 1.525 0.09310 N 1 B 0.19583 0.037 B 0.13407 0.009 T 0.58405 -0.7642 10 0.45353 T 0.12 . 5.9913 0.19465 0.447:0.0:0.3698:0.1832 . 761 Q02846 GUC2D_HUMAN Q 761 ENSP00000254854:R761Q ENSP00000254854:R761Q R + 2 0 GUCY2D 7857941 0.000000 0.05858 0.462000 0.27118 0.976000 0.68499 -0.284000 0.08422 -0.603000 0.05767 -0.345000 0.07892 CGG TCGA-2J-AAB6-01A-11D-A40W-08 GUCY2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226973.2 0 0 0 6 371 0 100 0 0 0 0 100 2 0 0 0 0 0 2 1 0.963506 7 364 0 99 2 -2.876445 1 1 121412 2 35 1 0 2 2 1.797329 1 0.540000 2.400000 0.540000 0.060000 1.000000e-02 0.120000 0.060000 0.068255 0.060000 0 3.000000e-02 9.000000e-02 AQP4 361 broad.mit.edu 37 18 24436417 24436417 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:24436417C>T ENST00000383168.4 - 5 858 c.730G>A c.(730-732)Gct>Act p.A244T AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) AGGCCACCAGCGAGGACAGCT 0.433000 0 SO:0001583 missense ENST00000383168.4 1 1 hg19 CCDS11889.1 . . . . . . . . . . C 35 5.463024 0.96257 0.0 2.33E-4 ENSG00000171885 ENST00000383168;ENST00000440832;ENST00000383170 D 0.96265 -3.96 5.84 5.84 0.93424 Aquaporin-like (2); 0.000000 0.85682 D 0.000000 D 0.98220 0.9411 M 0.83223 2.63 0.80722 D 1 D 0.89917 1.0 D 0.68943 0.961 D 0.98652 1.0680 10 0.87932 D 0 . 20.1535 0.98095 0.0:1.0:0.0:0.0 . 244 P55087 AQP4_HUMAN T 244;224;140 ENSP00000372654:A244T ENSP00000372654:A244T A - 1 0 AQP4 22690415 1.000000 0.71417 0.966000 0.40874 0.958000 0.62258 7.263000 0.78421 2.764000 0.94973 0.650000 0.86243 GCT TCGA-2J-AAB6-01A-11D-A40W-08 AQP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254914.2 1 0 0 92 234 0 117 0 0 0 0 117 2 0 0 0 0 0 2 1 1.000000 90 232 0 117 2 -7.111425 1 1 121412 3 35 1 0 2 2 1.872823 1 0.540000 2.400000 0.540000 0.990000 8.600000e-01 1.000000 1.000000 0.982487 0.990000 1 9.500000e-01 1 CCDC105 126402 broad.mit.edu 37 19 15131402 15131402 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:15131402C>T ENST00000292574.3 + 3 887 c.805C>T c.(805-807)Cga>Tga p.R269* NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 23 GAACCTCTCCCGAGCCCCCAC 0.597000 0 SO:0001587 stop_gained ENST00000292574.3 0 1 hg19 CCDS12322.1 . . . . . . . . . . C 18.01 3.528521 0.64860 0.0 1.16E-4 ENSG00000160994 ENST00000292574 . . . 4.09 -1.59 0.08453 . 0.492673 0.16678 N 0.204050 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -0.9272 5.0347 0.14428 0.5189:0.3698:0.0:0.1113 . . . . X 269 . ENSP00000292574:R269X R + 1 2 CCDC105 14992402 0.001000 0.12720 0.185000 0.23176 0.317000 0.28152 -0.171000 0.09883 -0.391000 0.07763 0.558000 0.71614 CGA TCGA-2J-AAB6-01A-11D-A40W-08 CCDC105-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466293.1 1 0 1 36 108 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 35 107 0 39 2 -4.277767 1 1 121412 7 40 1 0 0 0 1.760489 0 0.540000 2.400000 0.527235 0.890000 6.600000e-01 1.000000 1.000000 0.888945 0.890000 1 7.700000e-01 1 ZNF99 7652 broad.mit.edu 37 19 22940908 22940908 + Silent SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:22940908A>G ENST00000596209.1 - 4 1893 c.1803T>C c.(1801-1803)gcT>gcC p.A601A ZNF99_ENST00000397104.3_Silent_p.A510A NM_001080409.2 NP_001073878.2 A8MXY4 ZNF99_HUMAN zinc finger protein 99 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTGGTTAAAAGCTTTGCCAC 0.378000 0 SO:0001819 synonymous_variant ENST00000596209.1 1 1 hg19 CCDS59369.1 TCGA-2J-AAB6-01A-11D-A40W-08 ZNF99-001 NOVEL not_best_in_genome_evidence|basic|CCDS protein_coding protein_coding OTTHUMT00000464591.1 1 0 1 74 170 0 108 0 0 0 0 108 2 0 0 0 0 0 2 1 1.000000 73 161 0 122 2 -20.000000 1 1 0 0 1 0 0 0 1.760489 0 0.540000 2.400000 0.527235 0.990000 8.800000e-01 1.000000 1.000000 0.989848 0.990000 1 9.800000e-01 1 ZNF554 115196 broad.mit.edu 37 19 2834140 2834140 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:2834140C>T ENST00000317243.5 + 5 1105 c.907C>T c.(907-909)Cag>Tag p.Q303* ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 23 Hepatocellular(1079;0.137) GGAAAATGGGCAGTCATTGAA 0.478000 0 SO:0001587 stop_gained ENST00000317243.5 0 1 hg19 CCDS42462.1 . . . . . . . . . . C 18.67 3.673776 0.67928 . . ENSG00000172006 ENST00000317243 . . . 2.77 0.44 0.16572 . . . . . . . . . . . 0.09310 N 0.99999 . . . . . . . . . . 0.02654 T 1 . 2.9143 0.05748 0.5402:0.2836:0.1762:0.0 . . . . X 303 . ENSP00000321132:Q303X Q + 1 0 ZNF554 2785140 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 0.558000 0.23469 -0.062000 0.13088 -0.505000 0.04504 CAG TCGA-2J-AAB6-01A-11D-A40W-08 ZNF554-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451598.3 1 0 0 120 292 0 101 0 8.592049e-02 0 2 0 101 2 0 0 0 0 0 2 1 1.000000 118 289 0 101 2 -20.000000 1 1 0 0 1 0 0 0 1.760489 0 0.540000 2.400000 0.527235 0.990000 8.900000e-01 1.000000 1.000000 0.987359 0.990000 1 9.600000e-01 1 TYROBP 7305 broad.mit.edu 37 19 36399086 36399086 + Silent SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 G T G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:36399086G>T ENST00000262629.4 - 1 111 c.45C>A c.(43-45)ctC>ctA p.L15L TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000585901.2_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L NM_003332.3|NM_198125.2 NP_003323.1|NP_937758.1 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCCAGCAGGAGAGGCAGGA 0.657000 0 SO:0001819 synonymous_variant ENST00000262629.4 0 1 hg19 CCDS12482.1 TCGA-2J-AAB6-01A-11D-A40W-08 TYROBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457397.1 0 0 0 7 182 0 23 0 9.966925e-01 0 289 0 23 2 0 0 0 0 0 2 1 0.977186 6 173 0 22 2 -9.607467 1 1 0 0 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.220000 9.000000e-02 1.000000 0.200000 0.286751 0.220000 0 1.400000e-01 3.400000e-01 ZNF585A 199704 broad.mit.edu 37 19 37644404 37644404 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:37644404C>T ENST00000356958.4 - 5 655 c.397G>A c.(397-399)Gcc>Acc p.A133T ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T Q6P3V2 Z585A_HUMAN zinc finger protein 585A 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAAATTTGGCGCATTCATAA 0.383000 0 SO:0001583 missense ENST00000356958.4 0 1 hg19 . . . . . . . . . . C 9.121 1.009054 0.19199 . . ENSG00000196967 ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533 T;T;T;T 0.35789 1.29;1.29;1.29;1.67 2.95 1.88 0.25563 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.224693 0.22663 U 0.057163 T 0.11067 0.0270 N 0.01742 -0.745 0.09310 N 1 B 0.26935 0.164 B 0.20577 0.03 T 0.23048 -1.0199 10 0.20046 T 0.44 . 5.5634 0.17157 0.2297:0.5464:0.2238:0.0 . 133 Q6P3V2 Z585A_HUMAN T 133;78;78;78 ENSP00000349440:A133T;ENSP00000292841:A78T;ENSP00000375998:A78T;ENSP00000347724:A78T ENSP00000292841:A78T A - 1 0 ZNF585A 42336244 0.000000 0.05858 0.004000 0.12327 0.002000 0.02628 -4.249000 0.00266 0.770000 0.33336 0.655000 0.94253 GCC TCGA-2J-AAB6-01A-11D-A40W-08 ZNF585A-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000457980.2 0 0 0 6 877 0 167 0 2.128063e-04 0 3 0 167 2 0 0 0 0 0 2 1 0.964657 6 874 0 165 2 -1.706341 0 1 121410 7 43 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.030000 0 1.000000 0.040000 0.112655 0.030000 0 1.000000e-02 7.000000e-02 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 p.A94T(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 1 Substitution - Missense(1) SO:0001583 missense ENST00000221954.2 0 1 hg19 CCDS33033.1 . . . . . . . . . . C 14.79 2.639939 0.47153 . . ENSG00000105352 ENST00000221954 T 0.66280 -0.2 1.76 1.76 0.24704 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.76278 0.3965 M 0.84219 2.685 0.09310 N 1 D;D 0.89917 0.997;1.0 D;D 0.73380 0.921;0.98 T 0.61207 -0.7109 9 0.66056 D 0.02 . 6.9535 0.24558 0.0:1.0:0.0:0.0 . 94;94 E7EMX3;O75871 .;CEAM4_HUMAN T 94 ENSP00000221954:A94T ENSP00000221954:A94T A - 1 0 CEACAM4 46823959 0.000000 0.05858 0.009000 0.14445 0.015000 0.08874 0.618000 0.24373 1.281000 0.44480 0.205000 0.17691 GCA TCGA-2J-AAB6-01A-11D-A40W-08 CEACAM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321148.1 0 0 0 9 993 1 213 0 0 0 1 1 213 2 0 0 0 0 0 2 0 0.077538 9 980 1 210 17 -1.549873 0 1 121412 4 41 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.040000 0 1.000000 0.040000 0.120559 0.040000 0 2.000000e-02 9.000000e-02 RSPH6A 81492 broad.mit.edu 37 19 46307741 46307741 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:46307741C>T ENST00000221538.3 - 3 1564 c.1422G>A c.(1420-1422)ccG>ccA p.P474P RSPH6A_ENST00000600188.1_Silent_p.P210P|RSPH6A_ENST00000597055.1_Silent_p.P474P NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 32 CCTCGTTGCCCGGGAAGGGTG 0.632000 0 SO:0001819 synonymous_variant ENST00000221538.3 1 1 hg19 CCDS12675.1 TCGA-2J-AAB6-01A-11D-A40W-08 RSPH6A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461657.1 1 0 1 55 343 0 74 0 0 0 0 74 2 0 0 0 0 0 2 1 1.000000 53 332 0 73 2 -2.578769 1 1 121412 10 41 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.770000 5.800000e-01 1.000000 0.760000 0.788522 0.770000 0 6.700000e-01 9.000000e-01 PLEKHA4 57664 broad.mit.edu 37 19 49362745 49362745 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:49362745G>A ENST00000263265.6 - 7 1228 c.673C>T c.(673-675)Cgg>Tgg p.R225W PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) CTCGCCCTCCGCATCTGGAGT 0.637000 0 SO:0001583 missense ENST00000263265.6 1 1 hg19 CCDS12737.1 . . . . . . . . . . G 13.25 2.179782 0.38511 . . ENSG00000105559 ENST00000263265;ENST00000355496 T;T 0.15834 2.99;2.39 4.7 2.52 0.30459 . 0.654908 0.13453 N 0.386789 T 0.15435 0.0372 L 0.27053 0.805 0.09310 N 1 D;D 0.71674 0.987;0.998 P;P 0.50896 0.653;0.65 T 0.10132 -1.0643 10 0.41790 T 0.15 . 5.648 0.17600 0.1:0.0:0.7059:0.1941 . 225;225 Q9H4M7-2;Q9H4M7 .;PKHA4_HUMAN W 225 ENSP00000263265:R225W;ENSP00000347683:R225W ENSP00000263265:R225W R - 1 2 PLEKHA4 54054557 0.004000 0.15560 0.354000 0.25760 0.004000 0.04260 0.418000 0.21230 0.691000 0.31592 0.462000 0.41574 CGG TCGA-2J-AAB6-01A-11D-A40W-08 PLEKHA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466216.1 1 0 1 184 150 0 68 0 9.999209e-01 1 15 0 68 2 0 0 0 0 0 2 1 1.000000 182 146 0 66 2 -20.000000 1 1 0 0 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 SIGLEC6 946 broad.mit.edu 37 19 52023419 52023419 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:52023419C>T ENST00000425629.3 - 8 1433 c.1279G>A c.(1279-1281)Gct>Act p.A427T SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A411T|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR NM_001245.5 NP_001236.4 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 28 all_neural(266;0.0199) TGTAGGACAGCGTAGTGGAGC 0.507000 0 SO:0001583 missense ENST00000425629.3 1 1 hg19 CCDS12834.3 . . . . . . . . . . . 12.92 2.081368 0.36758 0.0 5.97E-4 ENSG00000105492 ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458 T;T 0.09630 2.96;2.96 2.57 2.57 0.30868 . . . . . T 0.33206 0.0855 M 0.84948 2.725 0.09310 N 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.80764 0.955;0.994;0.955 T 0.03212 -1.1060 9 0.87932 D 0 . 8.7521 0.34622 0.0:1.0:0.0:0.0 . 375;411;427 C9JBE5;O43699-3;O43699 .;.;SIGL6_HUMAN T 400;411;427;375 ENSP00000401502:A427T;ENSP00000410679:A375T ENSP00000344064:A400T A - 1 0 SIGLEC6 56715231 0.165000 0.22948 0.028000 0.17463 0.009000 0.06853 1.102000 0.31050 1.726000 0.51525 0.609000 0.83330 GCT TCGA-2J-AAB6-01A-11D-A40W-08 SIGLEC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257670.3 1 0 1 507 574 0 212 0 0 0 0 212 2 0 0 0 0 0 2 1 1.000000 501 562 0 209 2 -20.000000 1 1 120938 18 47 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 FPR1 2357 broad.mit.edu 37 19 52249584 52249584 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:52249584C>T ENST00000595042.1 - 3 805 c.664G>A c.(664-666)Ggg>Agg p.G222R FPR1_ENST00000304748.4_Missense_Mutation_p.G222R NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) Nedocromil(DB00716) GCAATAAGCCCATAACTGACA 0.517000 0 SO:0001583 missense ENST00000595042.1 1 1 hg19 CCDS12839.1 . . . . . . . . . . . 12.24 1.878537 0.33162 . . ENSG00000171051 ENST00000304748 T 0.72725 -0.68 3.65 3.65 0.41850 GPCR, rhodopsin-like superfamily (1); 0.431534 0.23098 N 0.051955 D 0.85465 0.5703 M 0.94063 3.49 0.30381 N 0.781935 D 0.89917 1.0 D 0.87578 0.998 T 0.82550 -0.0401 10 0.62326 D 0.03 . 7.6654 0.28428 0.0:0.8765:0.0:0.1235 . 222 P21462 FPR1_HUMAN R 222 ENSP00000302707:G222R ENSP00000302707:G222R G - 1 0 FPR1 56941396 0.000000 0.05858 0.484000 0.27391 0.048000 0.14542 0.029000 0.13666 1.956000 0.56807 0.650000 0.86243 GGG TCGA-2J-AAB6-01A-11D-A40W-08 FPR1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466905.1 1 0 1 250 276 0 102 1 1 8 28 0 102 2 0 0 0 0 0 2 1 1.000000 248 273 0 102 2 -20.000000 1 1 0 0 1 1 3 4 2.641795 1 0.540000 2.400000 0.691565 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 LCE2C 353140 broad.mit.edu 37 1 152648628 152648628 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152648628C>A ENST00000368783.1 + 2 192 c.137C>A c.(136-138)tCt>tAt p.S46Y LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTCTCTTCTTGCTGTGGT 0.627000 0 SO:0001583 missense ENST00000368783.1 1 1 hg19 CCDS1019.1 . . . . . . . . . . C 1.426 -0.571575 0.03882 . . ENSG00000187180 ENST00000368783 T 0.06218 3.33 3.39 0.0799 0.14418 . . . . . T 0.02727 0.0082 M 0.79805 2.47 0.09310 N 1 P 0.47910 0.902 B 0.35413 0.202 T 0.33523 -0.9865 9 0.87932 D 0 . 5.4015 0.16299 0.0:0.4654:0.4079:0.1267 . 46 Q5TA81 LCE2C_HUMAN Y 46 ENSP00000357772:S46Y ENSP00000357772:S46Y S + 2 0 LCE2C 150915252 0.023000 0.18921 0.264000 0.24511 0.299000 0.27559 0.291000 0.18994 -0.081000 0.12662 0.563000 0.77884 TCT TCGA-2J-AAB6-01A-11D-A40W-08 LCE2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034509.1 1 0 1 191 859 0 216 0 0 0 0 216 2 0 0 0 0 0 2 1 1.000000 187 840 0 215 2 -20.000000 1 1 0 0 1 1 3 4 2.695261 1 0.540000 2.400000 0.693782 0.990000 8.800000e-01 1.000000 1.000000 0.980940 0.990000 1 9.400000e-01 1 TNR 7143 broad.mit.edu 37 1 175365844 175365844 + Missense_Mutation SNP T T A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:175365844T>A ENST00000367674.2 - 5 1784 c.1076A>T c.(1075-1077)tAc>tTc p.Y359F TNR_ENST00000263525.2_Missense_Mutation_p.Y359F Q92752 TENR_HUMAN tenascin R 177 Renal(580;0.146) CGTCGGCTGGTAAGAGATCAC 0.617000 0 SO:0001583 missense ENST00000367674.2 1 1 hg19 CCDS1318.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 29.5|29.5 5.010028|5.010028 0.93346|0.93346 .|. .|. ENSG00000116147|ENSG00000116147 ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673 .|T;T .|0.61859 .|0.07;0.07 5.96|5.96 5.96|5.96 0.96718|0.96718 .|Fibronectin, type III (4);Immunoglobulin-like fold (1); .|0.067516 .|0.64402 .|D .|0.000009 T|T 0.72342|0.72342 0.3448|0.3448 L|L 0.54965|0.54965 1.715|1.715 0.80722|0.80722 D|D 1|1 .|D .|0.76494 .|0.999 .|D .|0.87578 .|0.998 T|T 0.72779|0.72779 -0.4190|-0.4190 5|10 .|0.51188 .|T .|0.08 .|. 16.0892|16.0892 0.81080|0.81080 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|359 .|Q92752 .|TENR_HUMAN F|F 83|359 .|ENSP00000356646:Y359F;ENSP00000263525:Y359F .|ENSP00000263525:Y359F L|Y -|- 3|2 2|0 TNR|TNR 173632467|173632467 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 3.774000|3.774000 0.55341|0.55341 2.279000|2.279000 0.76181|0.76181 0.533000|0.533000 0.62120|0.62120 TTA|TAC TCGA-2J-AAB6-01A-11D-A40W-08 TNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084414.4 1 0 1 98 398 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 1.000000 95 381 0 108 2 -2.936603 1 1 0 0 1 1 2 3 2.278732 1 0.540000 2.400000 0.637795 0.920000 7.600000e-01 1.000000 1.000000 0.923011 0.920000 1 8.400000e-01 1 NPHS2 7827 broad.mit.edu 37 1 179530445 179530445 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:179530445G>T ENST00000367615.4 - 3 498 c.430C>A c.(430-432)Cct>Act p.P144T NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 20 GCTCTTCCAGGAAGCAGATGT 0.373000 0 SO:0001583 missense ENST00000367615.4 1 1 hg19 CCDS1331.1 . . . . . . . . . . G 15.31 2.794586 0.50102 . . ENSG00000116218 ENST00000367615;ENST00000367616 D;D 0.99607 -6.27;-6.27 5.82 5.82 0.92795 . 0.210004 0.44097 D 0.000495 D 0.99140 0.9703 L 0.43923 1.385 0.38352 D 0.944353 D;D 0.59767 0.986;0.985 P;P 0.60886 0.88;0.844 D 0.98710 1.0704 10 0.54805 T 0.06 -18.3363 12.0534 0.53520 0.0787:0.0:0.9213:0.0 . 144;144 Q9NP85-2;Q9NP85 .;PODO_HUMAN T 144 ENSP00000356587:P144T;ENSP00000356588:P144T ENSP00000356587:P144T P - 1 0 NPHS2 177797068 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.032000 0.41127 2.765000 0.95021 0.650000 0.86243 CCT TCGA-2J-AAB6-01A-11D-A40W-08 NPHS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085283.1 1 0 1 366 539 0 220 0 0 0 0 220 2 0 0 0 0 0 2 1 1.000000 362 535 0 219 2 -20.000000 1 1 0 0 1 1 2 3 2.278732 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ASPM 259266 broad.mit.edu 37 1 197112823 197112823 + Silent SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:197112823T>G ENST00000367409.4 - 3 815 c.559A>C c.(559-561)Aga>Cga p.R187R ASPM_ENST00000294732.7_Silent_p.R187R NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 165 CTCCTAACTCTGTCAACTTTT 0.343000 0 SO:0001819 synonymous_variant ENST00000367409.4 1 1 hg19 CCDS1389.1 TCGA-2J-AAB6-01A-11D-A40W-08 ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000088256.1 1 0 1 160 242 0 98 1 1.594059e-01 2 0 0 98 2 0 0 0 0 0 2 1 1.000000 158 240 0 97 2 -20.000000 1 1 0 0 1 1 2 3 2.311165 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 OR14A16 284532 broad.mit.edu 37 1 247978702 247978702 + Silent SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:247978702C>A ENST00000357627.1 - 1 329 c.330G>T c.(328-330)ctG>ctT p.L110L NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 45 TGAGGAGGAGCAGCTCTGCAG 0.468000 Ovarian(112;180 1586 15073 21914 33526) 0 SO:0001819 synonymous_variant ENST00000357627.1 1 1 hg19 CCDS31097.1 TCGA-2J-AAB6-01A-11D-A40W-08 OR14A16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096856.1 1 0 1 69 300 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 1.000000 69 298 0 67 2 -20.000000 1 1 0 0 1 1 2 3 2.277302 1 0.540000 2.400000 0.637795 0.870000 7.000000e-01 1.000000 1.000000 0.880006 0.870000 1 7.800000e-01 9.800000e-01 OR2L8 391190 broad.mit.edu 37 1 248112943 248112943 + Silent SNP A A C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248112943A>C ENST00000357191.3 + 1 784 c.784A>C c.(784-786)Aga>Cga p.R262R OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCTACGTCCAAGATCCCTGCG 0.483000 0 SO:0001819 synonymous_variant ENST00000357191.3 1 1 hg19 CCDS31101.1 TCGA-2J-AAB6-01A-11D-A40W-08 OR2L8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096853.2 1 0 0 81 292 0 104 0 0 0 0 104 2 0 0 0 0 0 2 1 1.000000 77 279 0 116 2 -20.000000 1 1 0 0 1 1 2 3 2.277302 1 0.540000 2.400000 0.637795 0.990000 8.300000e-01 1.000000 1.000000 0.972078 0.990000 1 9.200000e-01 1 OR2L2 26246 broad.mit.edu 37 1 248202362 248202362 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248202362C>T ENST00000366479.2 + 1 889 c.793C>T c.(793-795)Cga>Tga p.R265* OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AAGATCCCTGCGATCTCCAAC 0.498000 0 SO:0001587 stop_gained ENST00000366479.2 0 1 hg19 CCDS31103.1 . . . . . . . . . . . 16.24 3.067941 0.55539 . . ENSG00000203663 ENST00000366479 . . . 1.9 0.911 0.19343 . 0.000000 0.27636 U 0.018492 . . . . . . 0.58432 D 0.999999 . . . . . . . . . . 0.05525 T 0.97 . 3.04 0.06135 0.243:0.5305:0.0:0.2264 . . . . X 265 . ENSP00000355435:R265X R + 1 2 OR2L2 246268985 0.000000 0.05858 0.000000 0.03702 0.207000 0.24258 -2.234000 0.01203 0.005000 0.14708 0.194000 0.17425 CGA TCGA-2J-AAB6-01A-11D-A40W-08 OR2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096871.1 1 0 0 91 336 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 1.000000 91 334 0 79 2 -20.000000 1 1 121412 7 38 1 1 2 3 2.277302 1 0.540000 2.400000 0.637795 0.990000 8.200000e-01 1.000000 1.000000 0.966244 0.990000 1 9.000000e-01 1 OR2T6 254879 broad.mit.edu 37 1 248551551 248551551 + Silent SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248551551G>C ENST00000355728.2 + 1 642 c.642G>C c.(640-642)gtG>gtC p.V214V NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCGGTGGTGACTGCATCCT 0.537000 0 SO:0001819 synonymous_variant ENST00000355728.2 0 1 hg19 CCDS31114.1 TCGA-2J-AAB6-01A-11D-A40W-08 OR2T6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097344.1 0 0 0 11 338 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.998264 11 334 0 75 2 -3.461027 1 1 0 0 1 1 2 3 2.277302 1 0.540000 2.400000 0.637795 0.150000 7.000000e-02 0.250000 0.150000 0.160543 0.150000 0 1.000000e-01 2.100000e-01 AJAP1 55966 broad.mit.edu 37 1 4772146 4772146 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:4772146G>A ENST00000378191.4 + 2 597 c.216G>A c.(214-216)gcG>gcA p.A72A AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.A72A NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 p.A72A(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) GACAGCCAGCGCGGGTCCCGG 0.771000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000378191.4 1 1 hg19 CCDS54.1 TCGA-2J-AAB6-01A-11D-A40W-08 AJAP1-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000001542.3 1 0 0 36 83 0 38 0 0 0 0 38 2 0 0 0 0 0 2 1 1.000000 32 74 0 38 2 -20.000000 1 1 112412 2 31 1 1 2 3 2.334486 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 0.999455 0.990000 1 9.900000e-01 1 GPR153 387509 broad.mit.edu 37 1 6313858 6313858 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:6313858C>T ENST00000377893.2 - 3 965 c.706G>A c.(706-708)Gcc>Acc p.A236T NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) GAGGTTTTGGCGGGCTCCGAG 0.677000 0 SO:0001583 missense ENST00000377893.2 0 1 hg19 CCDS64.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 12.87 2.067016 0.36470 . . ENSG00000158292 ENST00000377893 T 0.71934 -0.61 4.9 3.77 0.43336 GPCR, rhodopsin-like superfamily (1); 0.373744 0.28914 N 0.013730 T 0.56949 0.2020 N 0.19112 0.55 0.29397 N 0.86221 D 0.54772 0.968 P 0.47346 0.544 T 0.53753 -0.8394 10 0.28530 T 0.3 -50.623 9.4756 0.38869 0.0:0.8127:0.0:0.1873 . 236 Q6NV75 GP153_HUMAN T 236 ENSP00000367125:A236T ENSP00000367125:A236T A - 1 0 GPR153 6236445 0.042000 0.20092 0.950000 0.38849 0.814000 0.46013 0.331000 0.19733 2.277000 0.76020 0.462000 0.41574 GCC TCGA-2J-AAB6-01A-11D-A40W-08 GPR153-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000003717.2 0 0 0 6 203 0 45 0 7.031154e-01 0 81 0 45 2 0 0 0 0 0 2 1 0.962946 6 198 0 45 2 -2.895820 1 1 121064 20 42 1 1 2 3 2.334486 1 0.540000 2.400000 0.637795 0.140000 5.000000e-02 0.280000 0.130000 0.155623 0.140000 0 9.000000e-02 2.100000e-01 MYL9 10398 broad.mit.edu 37 20 35177521 35177521 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:35177521A>G ENST00000279022.2 + 4 492 c.388A>G c.(388-390)Atg>Gtg p.M130V MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCTCACCACCATGGGTGACCG 0.577000 0 SO:0001583 missense ENST00000279022.2 1 1 hg19 CCDS13276.1 . . . . . . . . . . A 18.75 3.690061 0.68271 . . ENSG00000101335 ENST00000279022;ENST00000346786 T;T 0.78595 -1.19;-1.01 4.7 4.7 0.59300 EF-hand-like domain (1); 0.000000 0.85682 D 0.000000 T 0.75339 0.3836 L 0.48642 1.525 0.30375 N 0.782556 P;B 0.36392 0.551;0.006 P;B 0.44394 0.448;0.004 T 0.71563 -0.4555 10 0.19590 T 0.45 . 13.3054 0.60349 1.0:0.0:0.0:0.0 . 76;130 Q9BUF9;P24844 .;MYL9_HUMAN V 130;76 ENSP00000279022:M130V;ENSP00000217313:M76V ENSP00000279022:M130V M + 1 0 MYL9 34610935 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 9.236000 0.95360 1.880000 0.54463 0.533000 0.62120 ATG TCGA-2J-AAB6-01A-11D-A40W-08 MYL9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079015.2 1 0 1 112 199 0 51 1 1 32 619 0 51 2 0 0 0 0 0 2 1 1.000000 110 197 0 51 2 -20.000000 1 1 0 0 1 2 2 4 2.648007 1 0.540000 2.400000 0.687032 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 TPTE 7179 broad.mit.edu 37 21 10951332 10951332 + Missense_Mutation SNP C C T rs113140892 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:10951332C>T ENST00000361285.4 - 10 709 c.380G>A c.(379-381)cGt>cAt p.R127H TPTE_ENST00000298232.7_Missense_Mutation_p.R109H|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology p.R109H(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) AGAAATAGAACGATACTCCAA 0.338000 1 Substitution - Missense(1) SO:0001583 missense ENST00000361285.4 1 1 hg19 CCDS13560.2 . . . . . . . . . . . 9.751 1.167533 0.21621 0.0 1.16E-4 ENSG00000166157 ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758 D;D;D 0.97430 -4.38;-4.38;-4.38 1.8 0.877 0.19145 . 0.456228 0.21930 U 0.067036 D 0.92140 0.7508 L 0.49126 1.545 0.09310 N 1 P;P;P 0.39759 0.687;0.687;0.56 B;B;B 0.30716 0.119;0.119;0.056 D 0.86249 0.1648 10 0.52906 T 0.07 -1.829 4.1712 0.10331 0.0:0.7811:0.0:0.2189 . 89;109;127 P56180-3;P56180-2;P56180 .;.;TPTE_HUMAN H 109;127;89;109 ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H ENSP00000298232:R109H R - 2 0 TPTE 9973203 0.000000 0.05858 0.031000 0.17742 0.132000 0.20833 -0.561000 0.05957 0.313000 0.23062 0.194000 0.17425 CGT TCGA-2J-AAB6-01A-11D-A40W-08 TPTE-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000157413.1 1 0 0 67 655 1 166 0 0 0 1 166 2 0 0 0 0 0 2 1 1.000000 64 609 0 175 2 -18.030330 1 1 121412 6 39 1 0.540000 2.400000 0 0 ITGB2 3689 broad.mit.edu 37 21 46306690 46306690 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:46306690C>T ENST00000397850.2 - 16 2660 c.2208G>A c.(2206-2208)agG>agA p.R736R ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 35 Simvastatin(DB00641) TCTCAAAGCGCCTGTACTCCC 0.617000 0 SO:0001819 synonymous_variant ENST00000397850.2 1 1 hg19 CCDS13716.1 TCGA-2J-AAB6-01A-11D-A40W-08 ITGB2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206566.2 1 0 1 71 188 0 70 1 1 49 330 0 70 2 0 0 0 0 0 2 1 1.000000 71 185 0 70 2 -20.000000 1 1 0 0 1 0 2 2 1.807900 1 0.540000 2.400000 0.540000 0.990000 8.100000e-01 1.000000 1.000000 0.967891 0.990000 1 9.100000e-01 1 SGSM1 129049 broad.mit.edu 37 22 25294015 25294015 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:25294015A>G ENST00000400359.4 + 20 2271 c.2264A>G c.(2263-2265)aAt>aGt p.N755S SGSM1_ENST00000400358.4_Missense_Mutation_p.N700S NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 41 AAGATCCCCAATGGGAACCTA 0.552000 0 SO:0001583 missense ENST00000400359.4 1 1 hg19 CCDS46674.1 . . . . . . . . . . A 8.860 0.946679 0.18356 0.0 1.19E-4 ENSG00000167037 ENST00000403206;ENST00000400358;ENST00000400359 T;T 0.06608 3.29;3.28 5.24 3.13 0.36017 Rab-GAP/TBC domain (2); 0.054567 0.64402 U 0.000001 T 0.05640 0.0148 N 0.25890 0.77 0.50467 D 0.999874 P;P;P;P 0.50369 0.571;0.934;0.914;0.85 B;P;P;P 0.49276 0.121;0.53;0.605;0.449 T 0.33214 -0.9877 10 0.05351 T 0.99 -9.6086 8.7962 0.34881 0.8466:0.0:0.1534:0.0 . 700;755;772;755 Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1 .;.;.;SGSM1_HUMAN S 755;700;755 ENSP00000383211:N700S;ENSP00000383212:N755S ENSP00000383211:N700S N + 2 0 SGSM1 23624015 1.000000 0.71417 0.991000 0.47740 0.987000 0.75469 4.392000 0.59659 0.419000 0.25927 0.482000 0.46254 AAT TCGA-2J-AAB6-01A-11D-A40W-08 SGSM1-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000320282.1 1 0 1 69 61 0 29 0 5.450618e-01 0 3 0 29 2 0 0 0 0 0 2 1 1.000000 67 60 0 29 2 -20.000000 1 1 121002 14 42 1 0 2 2 1.807357 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 MN1 4330 broad.mit.edu 37 22 28194939 28194939 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:28194939C>T ENST00000302326.4 - 1 2547 c.1593G>A c.(1591-1593)caG>caA p.Q531Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 45 gctgttgctgctgctgctgct 0.652000 T ETV6 AML, meningioma Dom yes 22 22q13 4330 meningioma (disrupted in balanced translocation) 1 L, O 0 SO:0001819 synonymous_variant ENST00000302326.4 0 1 hg19 CCDS42998.1 TCGA-2J-AAB6-01A-11D-A40W-08 MN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320737.1 1 0 0 11 19 0 14 1 6.053922e-01 4 1 0 14 2 0 1.477273e-01 0 2 0 4 2 0 0.986496 0 17 0 13 2 -19.999990 1 0 112886 3 25 1 0 2 2 1.807357 1 0.540000 2.400000 0.540000 0.990000 7.800000e-01 1.000000 1.000000 0.983738 0.990000 1 9.900000e-01 1 MN1 4330 broad.mit.edu 37 22 28194945 28194945 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:28194945C>T ENST00000302326.4 - 1 2541 c.1587G>A c.(1585-1587)caG>caA p.Q529Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 45 gctgctgctgctgctgctgct 0.647000 T ETV6 AML, meningioma Dom yes 22 22q13 4330 meningioma (disrupted in balanced translocation) 1 L, O 0 SO:0001819 synonymous_variant ENST00000302326.4 0 1 hg19 CCDS42998.1 TCGA-2J-AAB6-01A-11D-A40W-08 MN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320737.1 1 0 0 16 19 0 14 1 6.166430e-01 4 0 0 14 2 0 2.176387e-01 0 2 0 4 2 0 0.997598 0 17 0 14 2 -20.000000 1 0 0 0 1 0 2 2 1.807357 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 0.999121 0.990000 1 9.900000e-01 1 EIF4ENIF1 56478 broad.mit.edu 37 22 31837984 31837984 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:31837984C>T ENST00000397525.1 - 17 2550 c.2327G>A c.(2326-2328)cGt>cAt p.R776H EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000441289.1_5'Flank NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 36 TTTGGTGTAACGGTTGGCCTG 0.507000 0 SO:0001583 missense ENST00000397525.1 1 1 hg19 CCDS13898.1 . . . . . . . . . . C 23.5 4.419760 0.83559 . . ENSG00000184708 ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180 . . . 6.17 6.17 0.99709 . 0.276957 0.42053 D 0.000777 T 0.77942 0.4206 M 0.61703 1.905 0.58432 D 0.999995 D;D;D;D 0.89917 0.988;1.0;0.975;0.999 P;D;P;D 0.78314 0.483;0.991;0.482;0.948 T 0.72871 -0.4161 9 0.35671 T 0.21 -4.8798 19.8676 0.96824 0.0:1.0:0.0:0.0 . 602;776;601;752 B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4 .;4ET_HUMAN;.;. H 602;776;776;752;431 . ENSP00000328103:R776H R - 2 0 EIF4ENIF1 30167984 1.000000 0.71417 1.000000 0.80357 0.792000 0.44763 4.410000 0.59774 2.941000 0.99782 0.655000 0.94253 CGT TCGA-2J-AAB6-01A-11D-A40W-08 EIF4ENIF1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000127926.1 1 0 1 226 207 0 112 1 9.999965e-01 16 6 0 112 2 0 0 0 0 0 2 1 1.000000 223 204 0 110 2 -20.000000 1 1 121412 1 38 1 0 2 2 1.807357 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 EFCAB6 64800 broad.mit.edu 37 22 43996133 43996133 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:43996133C>T ENST00000262726.7 - 23 2945 c.2692G>A c.(2692-2694)Gag>Aag p.E898K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 p.E898K(1) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCTTTTCCCTCGGTGTCGTAT 0.428000 1 Substitution - Missense(1) SO:0001583 missense ENST00000262726.7 1 1 hg19 CCDS14049.1 . . . . . . . . . . C 13.14 2.149491 0.37923 . . ENSG00000186976 ENST00000396231;ENST00000262726 T;T 0.07800 3.16;3.16 5.0 2.86 0.33363 EF-hand-like domain (1); 0.251434 0.29940 N 0.010811 T 0.07999 0.0200 L 0.59436 1.845 0.22468 N 0.999077 P;D 0.56746 0.897;0.977 B;B 0.39465 0.196;0.3 T 0.31779 -0.9931 10 0.25751 T 0.34 -28.7596 9.1154 0.36755 0.0:0.8248:0.0:0.1752 . 746;898 Q5THR3-2;Q5THR3 .;EFCB6_HUMAN K 746;898 ENSP00000379533:E746K;ENSP00000262726:E898K ENSP00000262726:E898K E - 1 0 EFCAB6 42327466 0.060000 0.20803 0.872000 0.34217 0.680000 0.39746 1.029000 0.30140 1.333000 0.45449 0.655000 0.94253 GAG TCGA-2J-AAB6-01A-11D-A40W-08 EFCAB6-010 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353176.1 1 0 1 141 408 0 166 0 0 0 0 166 2 0 0 0 0 0 2 1 1.000000 137 401 0 163 2 -6.332775 1 1 121412 2 36 1 0 2 2 1.836681 1 0.540000 2.400000 0.540000 0.940000 8.100000e-01 1.000000 1.000000 0.942525 0.940000 1 8.700000e-01 1 LMF2 91289 broad.mit.edu 37 22 50941833 50941833 + Missense_Mutation SNP C C T rs144342127 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:50941833C>T ENST00000474879.2 - 14 2126 c.2111G>A c.(2110-2112)cGg>cAg p.R704Q LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.R679Q NM_033200.2 NP_149977.2 Q9BU23 LMF2_HUMAN lipase maturation factor 2 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) CTTCTTTCGCCGGGTGGTCCT 0.672000 0 SO:0001583 missense ENST00000474879.2 1 1 hg19 CCDS14093.2 . . . . . . . . . . C 18.08 3.543489 0.65198 2.32E-4 0.0 ENSG00000100258 ENST00000380796;ENST00000474879;ENST00000216080 T;T;T 0.41758 0.99;1.65;1.64 5.14 5.14 0.70334 . 0.512980 0.18854 N 0.129333 T 0.61048 0.2316 M 0.71581 2.175 0.23356 N 0.997846 D;D 0.76494 0.999;0.999 P;P 0.62649 0.806;0.905 T 0.55995 -0.8052 10 0.62326 D 0.03 -0.3442 14.4462 0.67352 0.0:1.0:0.0:0.0 . 704;679 Q9BU23;Q9BU23-2 LMF2_HUMAN;. Q 591;704;679 ENSP00000370173:R591Q;ENSP00000424381:R704Q;ENSP00000216080:R679Q ENSP00000216080:R679Q R - 2 0 LMF2 49288699 0.435000 0.25577 0.972000 0.41901 0.066000 0.16364 1.010000 0.29898 2.549000 0.85964 0.491000 0.48974 CGG TCGA-2J-AAB6-01A-11D-A40W-08 LMF2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316833.2 1 0 1 40 114 0 32 1 1 72 125 0 32 2 0 0 0 0 0 2 1 1.000000 38 111 0 30 2 -4.580515 1 1 120878 3 34 1 0 2 2 1.836681 1 0.540000 2.400000 0.540000 0.950000 7.100000e-01 1.000000 1.000000 0.930405 0.950000 1 8.300000e-01 1 ARHGEF4 50649 broad.mit.edu 37 2 131797606 131797606 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:131797606C>T ENST00000326016.5 + 7 1284 c.765C>T c.(763-765)gaC>gaT p.D255D ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000392953.3_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR NM_015320.2 NP_056135.2 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 29 Prostate(154;0.055) TGAATCAGGACGAGCCCGCGG 0.731000 0 SO:0001819 synonymous_variant ENST00000326016.5 0 1 hg19 CCDS2165.1 TCGA-2J-AAB6-01A-11D-A40W-08 ARHGEF4-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000254554.4 0 0 0 3 16 0 8 0 4.329004e-02 1 1 0 8 2 0 0 0 0 0 2 1 0.795367 3 15 0 8 2 -10.203690 1 1 0 0 1 1 2 3 1.827132 0 0.540000 2.400000 0.542471 0.640000 2.000000e-01 1.000000 1.000000 0.654354 0.640000 0 3.700000e-01 9.900000e-01 POTEE 445582 broad.mit.edu 37 2 132021474 132021474 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:132021474C>T ENST00000356920.5 + 15 2540 c.2446C>T c.(2446-2448)Cgc>Tgc p.R816C POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E p.R816C(1) CAAGGCCAACCGCGAGAAGAT 0.612000 1 Substitution - Missense(1) SO:0001583 missense ENST00000356920.5 0 1 hg19 CCDS46414.1 . . . . . . . . . . . 13.51 2.259391 0.39995 . . ENSG00000188219 ENST00000356920 D 0.97114 -4.25 . . . Actin/actin-like conserved site (1); . . . . D 0.98988 0.9655 H 0.99954 5.04 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 D 0.95089 0.8220 8 0.87932 D 0 . 2.8768 0.05634 0.4949:0.5045:2.0E-4:3.0E-4 . 816 Q6S8J3 POTEE_HUMAN C 816 ENSP00000439189:R816C ENSP00000439189:R816C R + 1 0 AC131180.1 131737944 1.000000 0.71417 0.221000 0.23827 0.224000 0.24922 3.183000 0.50918 0.119000 0.18210 0.121000 0.15741 CGC TCGA-2J-AAB6-01A-11D-A40W-08 POTEE-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 0 115 390 0 169 0 6.436756e-01 0 9 0 169 2 0 0 0 0 0 2 1 1.000000 99 285 0 237 2 -3.122278 1 1 120786 38 49 1 1 2 3 1.827132 0 0.540000 2.400000 0.542471 0.840000 7.100000e-01 1.000000 0.850000 0.851509 0.840000 0 7.700000e-01 9.200000e-01 TTN 7273 broad.mit.edu 37 2 179455980 179455980 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:179455980C>T ENST00000591111.1 - 254 55773 c.55549G>A c.(55549-55551)Ggt>Agt p.G18517S TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN_ENST00000589042.1_Missense_Mutation_p.G20158S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTTGCTACCGGCTGCATTG 0.418000 0 SO:0001583 missense ENST00000591111.1 1 1 hg19 . . . . . . . . . . C 14.91 2.675466 0.47781 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.74315 -0.83;-0.83;-0.83;-0.83 6.11 6.11 0.99139 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.89729 0.6799 M 0.90369 3.11 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 D 0.90351 0.4366 9 0.87932 D 0 . 20.7342 0.99715 0.0:1.0:0.0:0.0 . 11093;11218;11285;18517 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN S 17590;11093;11285;11218;11091 ENSP00000343764:G17590S;ENSP00000434586:G11093S;ENSP00000340554:G11285S;ENSP00000352154:G11218S ENSP00000340554:G11285S G - 1 0 TTN 179164226 1.000000 0.71417 1.000000 0.80357 0.944000 0.59088 7.818000 0.86416 2.906000 0.99361 0.655000 0.94253 GGT TCGA-2J-AAB6-01A-11D-A40W-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 1 0 0 202 600 0 265 0 0 0 0 265 2 0 0 0 0 0 2 1 1.000000 198 588 0 260 2 -7.015944 1 1 120846 3 41 1 1 2 3 1.976685 0 0.540000 2.400000 0.563567 0.990000 8.600000e-01 1.000000 1.000000 0.972368 0.990000 1 9.200000e-01 1 SESTD1 91404 broad.mit.edu 37 2 180014068 180014068 + Missense_Mutation SNP C C G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:180014068C>G ENST00000428443.3 - 7 853 c.537G>C c.(535-537)ttG>ttC p.L179F NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CATTGTTAATCAAAGCAAGTT 0.294000 0 SO:0001583 missense ENST00000428443.3 1 1 hg19 CCDS33338.1 . . . . . . . . . . C 10.14 1.269212 0.23221 . . ENSG00000187231 ENST00000428443 T 0.05258 3.47 5.45 3.65 0.41850 . 0.133962 0.48286 D 0.000189 T 0.02610 0.0079 N 0.08118 0 0.47123 D 0.999326 B 0.29085 0.232 B 0.27170 0.077 T 0.50988 -0.8762 9 . . . -11.3706 3.1066 0.06344 0.1961:0.5273:0.0:0.2766 . 179 Q86VW0 SESD1_HUMAN F 179 ENSP00000415332:L179F . L - 3 2 SESTD1 179722313 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 0.934000 0.28910 1.296000 0.44742 0.655000 0.94253 TTG TCGA-2J-AAB6-01A-11D-A40W-08 SESTD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335916.2 1 0 1 19 87 0 37 1 9.259439e-01 7 16 0 37 2 0 0 0 0 0 2 1 0.999995 19 87 0 37 2 -20.000000 1 1 0 0 1 1 2 3 1.976685 0 0.540000 2.400000 0.563567 0.730000 4.600000e-01 1.000000 1.000000 0.758573 0.730000 0 5.800000e-01 1 MYT1L 23040 broad.mit.edu 37 2 1893097 1893097 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:1893097G>A ENST00000399161.2 - 16 3183 c.2436C>T c.(2434-2436)ggC>ggT p.G812G MYT1L_ENST00000428368.2_Silent_p.G810G NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) AGTCGCCCTCGCCCAGCTGGA 0.582000 0 SO:0001819 synonymous_variant ENST00000399161.2 1 1 hg19 TCGA-2J-AAB6-01A-11D-A40W-08 MYT1L-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000322493.1 1 0 1 78 210 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 1.000000 77 206 0 76 2 -20.000000 1 1 0 0 1 1 2 3 1.902247 0 0.540000 2.400000 0.553268 0.990000 8.400000e-01 1.000000 1.000000 0.978110 0.990000 1 9.300000e-01 1 MAP2 4133 broad.mit.edu 37 2 210574822 210574822 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:210574822G>A ENST00000360351.4 + 12 5423 c.4917G>A c.(4915-4917)ccG>ccA p.P1639P MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Silent_p.P283P NM_002374.3 NP_002365.3 P11137 MTAP2_HUMAN microtubule-associated protein 2 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229) TCTTGGTGCCGAGTGAGAAGA 0.542000 Pancreas(27;423 979 28787 29963) 0 SO:0001819 synonymous_variant ENST00000360351.4 0 1 hg19 CCDS2384.1 TCGA-2J-AAB6-01A-11D-A40W-08 MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256521.2 0 0 0 5 269 0 57 0 3.987886e-02 0 14 0 57 2 0 0 0 0 0 2 1 0.932469 5 260 0 57 2 -2.763555 1 1 121412 2 37 1 1 2 3 1.909500 0 0.540000 2.400000 0.553268 0.070000 2.000000e-02 1.000000 0.070000 0.164182 0.070000 0 4.000000e-02 1.300000e-01 TMEM198 130612 broad.mit.edu 37 2 220409474 220409474 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:220409474C>T ENST00000344458.2 + 3 610 c.25C>T c.(25-27)Cgg>Tgg p.R9W RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000243776.6_5'Flank|CHPF_ENST00000373891.2_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W|CHPF_ENST00000535926.1_5'Flank Q66K66 TM198_HUMAN transmembrane protein 198 16 Renal(207;0.0376) GGCAACACTGCGGTTCCAGCT 0.617000 0 SO:0001583 missense ENST00000344458.2 1 1 hg19 CCDS33385.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 19.17 3.776201 0.70107 . . ENSG00000188760 ENST00000344458;ENST00000421791;ENST00000373883 . . . 3.94 3.94 0.45596 . 0.562550 0.17727 N 0.164020 T 0.39911 0.1096 N 0.08118 0 0.39157 D 0.962335 B 0.12013 0.005 B 0.01281 0.0 T 0.42899 -0.9424 9 0.66056 D 0.02 -9.0173 16.1416 0.81528 0.0:1.0:0.0:0.0 . 9 Q66K66 TM198_HUMAN W 9 . ENSP00000343507:R9W R + 1 2 TMEM198 220117718 1.000000 0.71417 0.998000 0.56505 0.977000 0.68977 2.182000 0.42556 2.226000 0.72624 0.555000 0.69702 CGG TCGA-2J-AAB6-01A-11D-A40W-08 TMEM198-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131063.1 1 0 1 57 198 0 65 0 4.069410e-01 0 6 0 65 2 0 0 0 0 0 2 1 1.000000 54 195 0 65 2 -3.807542 1 1 121412 1 28 1 1 2 3 1.909500 0 0.540000 2.400000 0.553268 0.860000 6.600000e-01 1.000000 1.000000 0.867010 0.860000 1 7.500000e-01 1 SP140 11262 broad.mit.edu 37 2 231120208 231120208 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:231120208C>T ENST00000392045.3 + 12 1315 c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000420434.3_Intron NM_007237.4 NP_009168.4 Q13342 SP140_HUMAN SP140 nuclear body protein 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) TGGAGAAGAGCGCCAGGAAGC 0.527000 0 SO:0001583 missense ENST00000392045.3 1 1 hg19 CCDS42831.1 . . . . . . . . . . c 9.688 1.151170 0.21371 . . ENSG00000079263 ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000343805 T;T;T;T 0.60040 0.56;0.86;0.62;0.22 2.9 -1.08 0.09936 . . . . . T 0.30198 0.0757 N 0.14661 0.345 0.09310 N 1 P;D;P 0.56968 0.688;0.978;0.561 B;B;B 0.37422 0.188;0.249;0.063 T 0.24190 -1.0167 9 0.66056 D 0.02 3.0597 3.4175 0.07381 0.0:0.4239:0.2039:0.3723 . 341;401;367 E9PFJ6;Q13342;E7EX75 .;LY10_HUMAN;. C 325;367;270;401;341 ENSP00000440107:R325C;ENSP00000345846:R270C;ENSP00000375899:R401C;ENSP00000342096:R341C ENSP00000342096:R341C R + 1 0 SP140 230828452 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 0.367000 0.20382 -0.283000 0.09115 -0.283000 0.09986 CGC TCGA-2J-AAB6-01A-11D-A40W-08 SP140-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000332015.1 1 0 1 57 205 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 1.000000 57 201 0 66 2 -20.000000 1 1 120848 8 39 1 1 2 3 1.909500 0 0.540000 2.400000 0.553268 0.830000 6.500000e-01 1.000000 1.000000 0.847919 0.830000 0 7.300000e-01 9.800000e-01 KIF1A 547 broad.mit.edu 37 2 241713624 241713624 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:241713624T>C ENST00000320389.7 - 12 1171 c.1013A>G c.(1012-1014)tAc>tGc p.Y338C KIF1A_ENST00000498729.2_Missense_Mutation_p.Y338C NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) GGTCTCATCGTAGTTGATGTC 0.572000 0 SO:0001583 missense ENST00000320389.7 1 1 hg19 CCDS46561.1 . . . . . . . . . . T 17.53 3.413213 0.62511 . . ENSG00000130294 ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283 T;T;T 0.76186 -1.0;-1.0;-1.0 4.33 4.33 0.51752 Kinesin, motor domain (3); 0.000000 0.85682 U 0.000000 D 0.87406 0.6169 M 0.88775 2.98 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.996;0.998;1.0 D 0.89725 0.3922 10 0.87932 D 0 . 13.1872 0.59688 0.0:0.0:0.0:1.0 . 338;338;338 F5H045;Q12756-2;Q12756 .;.;KIF1A_HUMAN C 338 ENSP00000322791:Y338C;ENSP00000438388:Y338C;ENSP00000384231:Y338C ENSP00000322791:Y338C Y - 2 0 KIF1A 241362297 1.000000 0.71417 0.952000 0.39060 0.601000 0.36947 7.764000 0.85297 1.593000 0.50029 0.374000 0.22700 TAC TCGA-2J-AAB6-01A-11D-A40W-08 KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324536.3 1 0 1 52 136 0 59 0 4.274396e-01 0 5 0 59 2 0 0 0 0 0 2 1 1.000000 52 135 0 58 2 -20.000000 1 1 0 0 1 1 2 3 1.909500 0 0.540000 2.400000 0.553268 0.990000 8.200000e-01 1.000000 1.000000 0.977504 0.990000 1 9.300000e-01 1 KCNG3 170850 broad.mit.edu 37 2 42671164 42671164 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:42671164A>T ENST00000306078.1 - 2 1816 c.1221T>A c.(1219-1221)ttT>ttA p.F407L KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 6 TATGGTAGATAAAAGTGATAG 0.398000 0 SO:0001583 missense ENST00000306078.1 1 1 hg19 CCDS1809.1 . . . . . . . . . . A 12.45 1.943128 0.34283 . . ENSG00000171126 ENST00000306078;ENST00000394973 D;D 0.98207 -4.79;-4.79 5.2 -0.932 0.10435 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.96734 0.8934 N 0.11698 0.16 0.47065 D 0.999303 D;D 0.63046 0.992;0.974 D;D 0.76071 0.987;0.969 D 0.94389 0.7612 10 0.66056 D 0.02 . 12.9539 0.58416 0.3285:0.0:0.6715:0.0 . 407;396 Q8TAE7;Q8TAE7-2 KCNG3_HUMAN;. L 407;396 ENSP00000304127:F407L;ENSP00000378424:F396L ENSP00000304127:F407L F - 3 2 KCNG3 42524668 1.000000 0.71417 0.997000 0.53966 0.982000 0.71751 1.574000 0.36482 -0.176000 0.10707 -0.400000 0.06385 TTT TCGA-2J-AAB6-01A-11D-A40W-08 KCNG3-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000250464.2 1 0 1 133 283 0 108 0 0 0 1 0 108 2 0 0 0 0 0 2 1 1.000000 133 281 0 108 2 -20.000000 1 1 0 0 1 1 2 3 1.810924 0 0.540000 2.400000 0.541239 0.990000 9.900000e-01 1.000000 1.000000 0.999688 0.990000 1 9.900000e-01 1 FSHR 2492 broad.mit.edu 37 2 49190190 49190190 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:49190190G>T ENST00000406846.2 - 10 1889 c.1770C>A c.(1768-1770)ttC>ttA p.F590L FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor p.F590L(1) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094) AAATGGCAAAGAAAGAAATGG 0.532000 Gonadal Dysgenesis, 46 XX 1 Substitution - Missense(1) SO:0001583 missense Familial Cancer Database ENST00000406846.2 1 1 hg19 CCDS1843.1 . . . . . . . . . . G 12.17 1.857498 0.32791 . . ENSG00000170820 ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117 T;T;T;T 0.70045 -0.45;-0.45;-0.45;-0.45 5.35 4.47 0.54385 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.57725 0.2073 L 0.53561 1.675 0.80722 D 1 B;B;B 0.11235 0.004;0.002;0.003 B;B;B 0.15870 0.014;0.008;0.014 T 0.53429 -0.8440 9 . . . . 8.786 0.34821 0.231:0.0:0.769:0.0 . 564;528;590 Q05AH0;G5E967;P23945 .;.;FSHR_HUMAN L 590;528;564;326 ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L . F - 3 2 FSHR 49043694 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.409000 0.44583 1.620000 0.50308 0.655000 0.94253 TTC TCGA-2J-AAB6-01A-11D-A40W-08 FSHR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251367.2 1 0 1 33 103 0 51 0 0 0 0 51 2 0 0 0 0 0 2 1 1.000000 33 101 0 51 2 -20.000000 1 1 0 0 1 1 2 3 1.810924 0 0.540000 2.400000 0.541239 0.890000 6.500000e-01 1.000000 1.000000 0.888134 0.890000 1 7.600000e-01 1 GGCX 2677 broad.mit.edu 37 2 85779621 85779621 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:85779621G>A ENST00000233838.4 - 10 1437 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022) GGAAGCAGGCGGCTCAGGCAA 0.522000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000233838.4 1 1 hg19 CCDS1978.1 . . . . . . . . . . G 19.07 3.756141 0.69648 . . ENSG00000115486 ENST00000233838;ENST00000430215 D;D 0.92299 -3.01;-3.01 5.95 5.95 0.96441 . 0.567099 0.20201 N 0.097085 D 0.92120 0.7502 L 0.49778 1.585 0.34474 D 0.703168 D;P;D 0.61080 0.978;0.807;0.989 P;B;P 0.51453 0.606;0.417;0.67 D 0.94367 0.7592 10 0.54805 T 0.06 -1.5644 13.4692 0.61273 0.0:0.1567:0.8433:0.0 . 396;292;453 E9PEE1;B4DQW4;P38435 .;.;VKGC_HUMAN C 453;396 ENSP00000233838:R453C;ENSP00000408045:R396C ENSP00000233838:R453C R - 1 0 GGCX 85633132 0.988000 0.35896 0.998000 0.56505 0.996000 0.88848 1.939000 0.40213 2.824000 0.97209 0.655000 0.94253 CGC TCGA-2J-AAB6-01A-11D-A40W-08 GGCX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252490.3 1 0 1 150 342 0 127 1 9.390689e-01 2 11 0 127 2 0 0 0 0 0 2 1 1.000000 148 340 0 125 2 -10.712790 1 1 121412 2 37 1 1 2 3 1.810924 0 0.540000 2.400000 0.541239 0.990000 9.700000e-01 1.000000 1.000000 0.998834 0.990000 1 9.900000e-01 1 STXBP5L 9515 broad.mit.edu 37 3 120959317 120959317 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:120959317C>A ENST00000273666.6 + 14 1634 c.1363C>A c.(1363-1365)Ctt>Att p.L455I STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 68 AGCTTGGAACCTTGGAGCACA 0.323000 0 SO:0001583 missense ENST00000273666.6 0 1 hg19 CCDS43137.1 . . . . . . . . . . C 10.67 1.416075 0.25552 . . ENSG00000145087 ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262 T;T;T;T;T;T 0.63096 1.59;-0.02;0.56;0.56;-0.02;-0.02 5.21 0.825 0.18824 WD40 repeat-like-containing domain (2); 0.346259 0.27214 N 0.020399 T 0.52693 0.1750 L 0.55103 1.725 0.47737 D 0.999504 B;B 0.16603 0.018;0.01 B;B 0.19148 0.024;0.021 T 0.46978 -0.9152 10 0.37606 T 0.19 -8.1379 10.0091 0.41975 0.3776:0.554:0.0:0.0684 . 455;455 E9PFI2;Q9Y2K9 .;STB5L_HUMAN I 455 ENSP00000273666:L455I;ENSP00000420019:L455I;ENSP00000419627:L455I;ENSP00000420287:L455I;ENSP00000420666:L455I;ENSP00000420167:L455I ENSP00000273666:L455I L + 1 0 STXBP5L 122442007 0.232000 0.23762 0.997000 0.53966 0.892000 0.51952 0.713000 0.25794 0.297000 0.22615 -0.397000 0.06425 CTT TCGA-2J-AAB6-01A-11D-A40W-08 STXBP5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355256.3 0 0 0 6 301 0 71 0 0 0 0 71 2 0 0 0 0 0 2 1 0.963191 6 295 0 71 2 -3.142602 1 1 0 0 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.090000 3.000000e-02 0.190000 0.090000 0.106381 0.090000 0 6.000000e-02 1.500000e-01 TRH 7200 broad.mit.edu 37 3 129696025 129696025 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:129696025G>A ENST00000302649.3 + 3 1222 c.695G>A c.(694-696)cGg>cAg p.R232Q TRH_ENST00000507066.1_Missense_Mutation_p.R228Q NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 14 CCTGGTCGGCGGGCAGCCTGG 0.617000 Esophageal Squamous(60;321 1330 17401 41911) 0 SO:0001583 missense ENST00000302649.3 1 1 hg19 CCDS3066.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 8.889 0.953444 0.18431 2.27E-4 1.17E-4 ENSG00000170893 ENST00000302649;ENST00000507066 T;T 0.56941 0.44;0.43 4.42 3.51 0.40186 . 0.302445 0.35013 N 0.003517 T 0.40171 0.1106 L 0.49126 1.545 0.09310 N 0.999999 P 0.48640 0.913 B 0.35240 0.198 T 0.40831 -0.9542 10 0.56958 D 0.05 -6.4951 9.4211 0.38553 0.0:0.0:0.7781:0.2219 . 232 P20396 TRH_HUMAN Q 232;228 ENSP00000303452:R232Q;ENSP00000426522:R228Q ENSP00000303452:R232Q R + 2 0 TRH 131178715 0.660000 0.27420 0.018000 0.16275 0.005000 0.04900 1.356000 0.34079 1.146000 0.42352 0.563000 0.77884 CGG TCGA-2J-AAB6-01A-11D-A40W-08 TRH-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000356592.1 1 0 1 38 153 0 34 0 0 0 0 34 2 0 0 0 0 0 2 1 1.000000 37 150 0 33 2 -20.000000 1 1 118390 422 53 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.930000 6.900000e-01 1.000000 1.000000 0.915051 0.930000 1 8.000000e-01 1 NUP210 23225 broad.mit.edu 37 3 13360637 13360637 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:13360637G>A ENST00000254508.5 - 39 5580 c.5498C>T c.(5497-5499)aCg>aTg p.T1833M NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 66 all_neural(104;0.187) ATCCCGGGGCGTGCAGACAGT 0.637000 0 SO:0001583 missense ENST00000254508.5 0 1 hg19 CCDS33704.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 15.41 2.826752 0.50739 . . ENSG00000132182 ENST00000254508 T 0.05081 3.5 5.45 4.56 0.56223 . 1.369470 0.04485 N 0.378425 T 0.10078 0.0247 N 0.22421 0.69 0.09310 N 1 D 0.59767 0.986 P 0.47528 0.549 T 0.50591 -0.8810 10 0.46703 T 0.11 -0.0018 14.191 0.65637 0.0:0.1496:0.8504:0.0 . 1833 Q8TEM1 PO210_HUMAN M 1833 ENSP00000254508:T1833M ENSP00000254508:T1833M T - 2 0 NUP210 13335637 0.493000 0.26035 0.003000 0.11579 0.045000 0.14185 4.575000 0.60908 1.288000 0.44600 0.561000 0.74099 ACG TCGA-2J-AAB6-01A-11D-A40W-08 NUP210-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340085.1 1 0 1 19 73 0 9 0 3.751306e-01 1 5 0 9 2 0 0 0 0 0 2 1 0.999993 18 69 0 9 2 -20.000000 1 1 121382 9 34 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.970000 6.300000e-01 1.000000 1.000000 0.918725 0.970000 1 7.900000e-01 1 KY 339855 broad.mit.edu 37 3 134322916 134322916 + Silent SNP G G A rs142832129 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:134322916G>A ENST00000423778.2 - 11 1552 c.1491C>T c.(1489-1491)caC>caT p.H497H KY_ENST00000508956.1_Silent_p.H476H|KY_ENST00000503669.1_3'UTR NM_178554.4 NP_848649.3 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 21 CATCATCCCCGTGGAGGGAAG 0.617000 0 SO:0001819 synonymous_variant ENST00000423778.2 1 0 hg19 CCDS46920.1 TCGA-2J-AAB6-01A-11D-A40W-08 KY-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357320.1 1 0 1 25 99 0 30 0 0 0 0 30 2 0 0 0 0 0 2 1 1.000000 24 94 0 29 2 -2.835508 1 1 121028 202 51 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.950000 6.500000e-01 1.000000 1.000000 0.913937 0.950000 1 7.900000e-01 1 SCN5A 6331 broad.mit.edu 37 3 38662392 38662392 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:38662392C>T ENST00000333535.4 - 5 702 c.553G>A c.(553-555)Gcg>Acg p.A185T SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T 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) AAAGTGAACGCGTGCAGGCAG 0.527000 0 GRCh37 CM044054 SCN5A M rs192113333 SO:0001583 missense ENST00000333535.4 1 1 hg19 CCDS46796.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 13.26 2.182805 0.38511 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.98585 -5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01 4.13 4.13 0.48395 Ion transport (1); 0.272885 0.36893 N 0.002355 D 0.94568 0.8250 N 0.22421 0.69 0.09310 N 1 P;P;P;P;P;P 0.50710 0.898;0.936;0.898;0.873;0.938;0.846 B;B;B;B;B;B 0.40165 0.249;0.321;0.249;0.255;0.299;0.079 D 0.90051 0.4149 10 0.44086 T 0.13 . 12.7806 0.57474 0.0:0.835:0.165:0.0 . 185;185;185;185;185;185 E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;SCN5A_HUMAN;.;. T 185 ENSP00000398962:A185T;ENSP00000398266:A185T;ENSP00000410257:A185T;ENSP00000388797:A185T;ENSP00000397915:A185T;ENSP00000416634:A185T;ENSP00000328968:A185T;ENSP00000399524:A185T;ENSP00000403355:A185T;ENSP00000413996:A185T ENSP00000328968:A185T A - 1 0 SCN5A 38637396 0.008000 0.16893 0.142000 0.22268 0.893000 0.52053 1.343000 0.33930 2.306000 0.77630 0.561000 0.74099 GCG TCGA-2J-AAB6-01A-11D-A40W-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 1 0 1 25 84 0 24 0 0 0 0 24 2 0 0 0 0 0 2 1 1.000000 22 84 0 24 2 -20.000000 1 1 120930 36 44 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.990000 7.400000e-01 1.000000 1.000000 0.964923 0.990000 1 9.000000e-01 1 CDC25A 993 broad.mit.edu 37 3 48219349 48219349 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:48219349G>T ENST00000302506.3 - 7 1087 c.679C>A c.(679-681)Ctg>Atg p.L227M CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M|RNU7-128P_ENST00000517247.1_RNA NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 20 GGTACCTTCAGATTCTCTCCA 0.448000 0 SO:0001583 missense ENST00000302506.3 1 1 hg19 CCDS2760.1 . . . . . . . . . . G 12.09 1.834951 0.32421 . . ENSG00000164045 ENST00000302506;ENST00000351231;ENST00000443342 T;T;T 0.36520 1.25;1.25;1.25 5.86 -1.61 0.08399 . 0.298652 0.32068 N 0.006637 T 0.25195 0.0612 L 0.40543 1.245 0.31540 N 0.660029 B;B 0.22746 0.074;0.053 B;B 0.36534 0.145;0.227 T 0.17228 -1.0376 10 0.37606 T 0.19 . 0.6643 0.00848 0.2883:0.1209:0.3425:0.2483 . 187;227 P30304-2;P30304 .;MPIP1_HUMAN M 227;187;226 ENSP00000303706:L227M;ENSP00000343166:L187M;ENSP00000416483:L226M ENSP00000303706:L227M L - 1 2 CDC25A 48194353 0.984000 0.35163 0.843000 0.33291 0.723000 0.41478 0.184000 0.16939 -0.685000 0.05177 -0.291000 0.09656 CTG TCGA-2J-AAB6-01A-11D-A40W-08 CDC25A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257512.2 1 0 1 487 644 0 296 1 8.107497e-01 4 2 0 296 2 0 0 0 0 0 2 1 1.000000 487 623 0 289 2 -20.000000 1 1 0 0 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 PXK 54899 broad.mit.edu 37 3 58385103 58385103 + Splice_Site SNP C C G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:58385103C>G ENST00000356151.2 + 12 1289 c.1180C>G c.(1180-1182)Cca>Gca p.P394A PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000463280.1_Splice_Site_p.P361A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000479241.1_Splice_Site_p.P377A NM_017771.3 NP_060241.2 PX domain containing serine/threonine kinase 19 CTTACAGATGCCGTAAGTCAA 0.448000 0 SO:0001630 splice_region_variant ENST00000356151.2 1 0 hg19 CCDS2889.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 26.8|26.8 4.770248|4.770248 0.90108|0.90108 .|. .|. ENSG00000168297|ENSG00000168297 ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750 .|T;T;T;T;T;T;T;T .|0.34667 .|2.12;2.11;2.12;1.4;1.39;1.4;1.35;2.12 5.87|5.87 5.87|5.87 0.94306|0.94306 .|Protein kinase-like domain (1);Protein kinase, catalytic domain (1); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.65196|0.65196 0.2668|0.2668 M|M 0.80183|0.80183 2.485|2.485 0.80722|0.80722 D|D 1|1 .|D;D;D;D;D;D .|0.89917 .|0.996;0.998;0.989;1.0;0.997;1.0 .|D;D;P;D;D;D .|0.79108 .|0.953;0.943;0.9;0.992;0.942;0.979 T|T 0.63497|0.63497 -0.6624|-0.6624 5|10 .|0.49607 .|T .|0.09 -14.302|-14.302 20.5827|20.5827 0.99408|0.99408 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|361;361;361;394;377;394 .|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2 .|.;.;.;PXK_HUMAN;.;. W|A 148|394;377;361;361;377;394;377;257;257 .|ENSP00000348472:P394A;ENSP00000305045:P377A;ENSP00000373222:P361A;ENSP00000417903:P361A;ENSP00000373221:P377A;ENSP00000417915:P394A;ENSP00000419049:P377A;ENSP00000438356:P257A .|ENSP00000305045:P377A C|P +|+ 3|1 2|0 PXK|PXK 58360143|58360143 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 4.715000|4.715000 0.61909|0.61909 2.941000|2.941000 0.99782|0.99782 0.655000|0.655000 0.94253|0.94253 TGC|CCA TCGA-2J-AAB6-01A-11D-A40W-08 PXK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353499.1 1 0 1 46 181 0 64 1 8.611607e-01 2 14 0 64 2 0 0 0 0 0 2 1 1.000000 46 180 0 63 2 -3.680894 1 1 0 0 1 1 2 3 2.282908 1 0.540000 2.400000 0.637795 0.950000 7.200000e-01 1.000000 1.000000 0.928815 0.950000 1 8.300000e-01 1 PTPN13 5783 broad.mit.edu 37 4 87622708 87622708 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:87622708G>A ENST00000411767.2 + 7 1012 c.949G>A c.(949-951)Gag>Aag p.E317K PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) CTCTTCAGGAGAGACTGCCAC 0.458000 0 SO:0001583 missense ENST00000411767.2 1 1 hg19 CCDS47094.1 . . . . . . . . . . G 14.69 2.612102 0.46631 . . ENSG00000163629 ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349 T;T;T;T;T 0.44083 0.93;0.93;0.93;0.93;0.93 6.02 5.17 0.71159 . 0.473238 0.18118 N 0.151133 T 0.36853 0.0982 L 0.57536 1.79 0.34254 D 0.679118 B;P;P;B 0.44627 0.037;0.675;0.839;0.259 B;B;B;B 0.36567 0.093;0.228;0.114;0.067 T 0.54450 -0.8292 10 0.38643 T 0.18 . 11.0908 0.48115 0.14:0.0:0.86:0.0 . 317;317;317;317 Q12923-2;Q12923-3;Q12923;Q12923-4 .;.;PTN13_HUMAN;. K 317;317;317;317;317;285 ENSP00000408368:E317K;ENSP00000394794:E317K;ENSP00000322675:E317K;ENSP00000407249:E317K;ENSP00000426626:E317K ENSP00000322675:E317K E + 1 0 PTPN13 87841732 1.000000 0.71417 0.990000 0.47175 0.428000 0.31595 3.582000 0.53921 1.547000 0.49401 0.650000 0.86243 GAG TCGA-2J-AAB6-01A-11D-A40W-08 PTPN13-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000363191.1 1 0 1 68 158 0 66 0 3.532939e-01 1 3 0 66 2 0 0 0 0 0 2 1 1.000000 68 158 0 66 2 -7.105578 1 1 0 0 1 1 2 3 1.849916 0 0.540000 2.400000 0.546127 0.990000 9.100000e-01 1.000000 1.000000 0.993830 0.990000 1 9.900000e-01 1 SH3TC2 79628 broad.mit.edu 37 5 148424197 148424197 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr5:148424197A>T ENST00000515425.1 - 4 385 c.284T>A c.(283-285)cTc>cAc p.L95H SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGCTGAGAGGTCCTACGT 0.438000 0 SO:0001583 missense ENST00000515425.1 1 1 hg19 CCDS4293.1 . . . . . . . . . . A 17.32 3.360433 0.61403 . . ENSG00000169247 ENST00000515425;ENST00000512049 D;D 0.90069 -2.56;-2.61 5.92 5.92 0.95590 . 0.085133 0.46758 D 0.000280 D 0.93973 0.8070 M 0.74647 2.275 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.94506 0.7714 10 0.87932 D 0 . 14.5824 0.68300 1.0:0.0:0.0:0.0 . 95;95 Q14CC0;Q8TF17 .;S3TC2_HUMAN H 95 ENSP00000423660:L95H;ENSP00000421860:L95H ENSP00000313025:L95H L - 2 0 SH3TC2 148404390 1.000000 0.71417 1.000000 0.80357 0.210000 0.24377 7.355000 0.79434 2.255000 0.74692 0.533000 0.62120 CTC TCGA-2J-AAB6-01A-11D-A40W-08 SH3TC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252186.2 1 0 1 87 78 0 51 1 2.791560e-01 2 0 0 51 2 0 0 0 0 0 2 1 1.000000 86 78 0 51 2 -20.000000 1 1 0 0 1 0 2 2 1.794732 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 IGF2R 3482 broad.mit.edu 37 6 160501166 160501166 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:160501166G>A ENST00000356956.1 + 39 5840 c.5692G>A c.(5692-5694)Gat>Aat p.D1898N NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 95 Breast(66;0.000777)|Ovarian(120;0.0305) Mecasermin(DB01277) TCCAGAAACCGATGACGGCGT 0.532000 0 SO:0001583 missense ENST00000356956.1 1 1 hg19 CCDS5273.1 . . . . . . . . . . G 13.28 2.190890 0.38707 . . ENSG00000197081 ENST00000356956 T 0.42131 0.98 5.5 4.64 0.57946 Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1); 0.753844 0.13297 N 0.398503 T 0.21145 0.0509 L 0.54323 1.7 0.09310 N 1 B 0.11235 0.004 B 0.08055 0.003 T 0.14671 -1.0464 10 0.31617 T 0.26 -21.8803 12.8987 0.58113 0.0752:0.0:0.9248:0.0 . 1898 P11717 MPRI_HUMAN N 1898 ENSP00000349437:D1898N ENSP00000349437:D1898N D + 1 0 IGF2R 160421156 0.963000 0.33076 0.009000 0.14445 0.005000 0.04900 4.116000 0.57871 1.459000 0.47892 0.655000 0.94253 GAT TCGA-2J-AAB6-01A-11D-A40W-08 IGF2R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042931.1 1 0 1 119 326 0 147 1 9.999999e-01 20 46 0 147 2 0 0 0 0 0 2 1 1.000000 117 319 0 144 2 -20.000000 1 1 121412 1 35 1 1 2 3 1.810553 0 0.540000 2.400000 0.541239 0.980000 8.400000e-01 1.000000 1.000000 0.966331 0.980000 1 9.100000e-01 1 HIST1H2BO 8348 broad.mit.edu 37 6 27861401 27861401 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:27861401G>A ENST00000303806.4 + 1 199 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo CCCGACACCGGCATCTCATCG 0.557000 0 SO:0001583 missense ENST00000303806.4 0 1 hg19 CCDS4640.1 . . . . . . . . . . G 19.99 3.928991 0.73327 . . ENSG00000196331 ENST00000303806 T 0.69435 -0.4 3.55 3.55 0.40652 Histone-fold (2);Histone core (1); . . . . T 0.82240 0.4994 M 0.93150 3.385 0.51767 D 0.999939 D 0.61697 0.99 D 0.64595 0.927 D 0.87114 0.2187 9 0.87932 D 0 . 14.9186 0.70818 0.0:0.0:1.0:0.0 . 54 P23527 H2B1O_HUMAN D 54 ENSP00000303408:G54D ENSP00000303408:G54D G + 2 0 HIST1H2BO 27969380 1.000000 0.71417 1.000000 0.80357 0.528000 0.34623 7.022000 0.76431 2.275000 0.75901 0.561000 0.74099 GGC TCGA-2J-AAB6-01A-11D-A40W-08 HIST1H2BO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040161.1 0 0 0 6 675 0 211 0 0 0 1 0 211 2 0 0 0 0 0 2 1 0.963613 6 666 0 208 2 -1.756810 0 1 0 0 1 0 1 1 1.799322 0 0.540000 2.400000 0.538755 0.030000 0 0.070000 0.040000 0.037343 0.030000 0 1.000000e-02 5.000000e-02 ZC3HAV1 56829 broad.mit.edu 37 7 138749667 138749667 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:138749667G>A ENST00000242351.5 - 8 2267 c.1951C>T c.(1951-1953)Cca>Tca p.P651S ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 37 GCCTGAAATGGCACAACTCCC 0.453000 0 SO:0001583 missense ENST00000242351.5 0 1 hg19 CCDS5851.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 9.022|9.022 0.985173|0.985173 0.18889|0.18889 .|. .|. ENSG00000105939|ENSG00000105939 ENST00000460845|ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247 .|T;T;T .|0.27402 .|1.67;1.67;1.67 4.32|4.32 1.18|1.18 0.20946|0.20946 .|WWE domain (1); .|0.865061 .|0.09843 .|N .|0.748673 T|T 0.17323|0.17323 0.0416|0.0416 N|N 0.26130|0.26130 0.795|0.795 0.09310|0.09310 N|N 1|1 .|B;B .|0.13594 .|0.003;0.008 .|B;B .|0.11329 .|0.004;0.006 T|T 0.32188|0.32188 -0.9916|-0.9916 5|10 .|0.16896 .|T .|0.51 .|. 4.2286|4.2286 0.10592|0.10592 0.0932:0.1468:0.5896:0.1704|0.0932:0.1468:0.5896:0.1704 .|. .|651;651 .|Q7Z2W4-2;Q7Z2W4 .|.;ZCCHV_HUMAN V|S 215|651;773;651;411 .|ENSP00000242351:P651S;ENSP00000418385:P773S;ENSP00000419855:P651S .|ENSP00000242351:P651S A|P -|- 2|1 0|0 ZC3HAV1|ZC3HAV1 138400207|138400207 0.001000|0.001000 0.12720|0.12720 0.027000|0.027000 0.17364|0.17364 0.001000|0.001000 0.01503|0.01503 0.409000|0.409000 0.21082|0.21082 0.536000|0.536000 0.28733|0.28733 -0.293000|-0.293000 0.09583|0.09583 GCC|CCA TCGA-2J-AAB6-01A-11D-A40W-08 ZC3HAV1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348915.1 0 0 0 5 448 0 73 0 1.725222e-01 0 56 0 73 2 0 0 0 0 0 2 1 0.934529 5 440 0 73 2 -2.686759 1 1 121412 1 30 1 1 2 3 2.280472 1 0.540000 2.400000 0.637795 0.050000 0 0.120000 0.060000 0.061351 0.050000 0 2.000000e-02 9.000000e-02 PKD1L1 168507 broad.mit.edu 37 7 47970835 47970835 + Silent SNP C C T rs141425680 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:47970835C>T ENST00000289672.2 - 6 653 c.603G>A c.(601-603)gcG>gcA p.A201A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 BBS9/PKD1L1(2) 142 CCACATCCTCCGCACAGCACA 0.607000 0 SO:0001819 synonymous_variant ENST00000289672.2 1 1 hg19 CCDS34633.1 TCGA-2J-AAB6-01A-11D-A40W-08 PKD1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340974.1 1 0 0 48 268 0 49 0 0 0 0 49 2 0 0 0 0 0 2 1 1.000000 47 258 0 48 2 -2.480665 0 1 121412 16 43 1 1 2 3 2.303293 1 0.540000 2.400000 0.637795 0.710000 5.400000e-01 0.900000 0.720000 0.723363 0.710000 0 6.200000e-01 8.200000e-01 SEMA3A 10371 broad.mit.edu 37 7 83764207 83764207 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:83764207T>C ENST00000265362.4 - 2 487 c.173A>G c.(172-174)cAt>cGt p.H58R SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 53 AAGGAAGGTATGATAACTGGA 0.388000 0 SO:0001583 missense ENST00000265362.4 1 1 hg19 CCDS5599.1 . . . . . . . . . . t 6.858 0.527583 0.13127 . . ENSG00000075213 ENST00000265362;ENST00000436949;ENST00000420047 T;T;T 0.20332 2.08;2.08;2.08 4.93 4.93 0.64822 WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4); 0.251915 0.47455 D 0.000223 T 0.12178 0.0296 N 0.12422 0.21 0.58432 D 0.999995 B 0.24132 0.098 B 0.31191 0.125 T 0.04537 -1.0944 10 0.02654 T 1 . 14.8712 0.70459 0.0:0.0:0.0:1.0 . 58 Q14563 SEM3A_HUMAN R 58 ENSP00000265362:H58R;ENSP00000415260:H58R;ENSP00000391900:H58R ENSP00000265362:H58R H - 2 0 SEMA3A 83602143 1.000000 0.71417 0.992000 0.48379 0.987000 0.75469 7.596000 0.82721 1.970000 0.57323 0.383000 0.25322 CAT TCGA-2J-AAB6-01A-11D-A40W-08 SEMA3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253355.2 1 0 1 144 183 0 79 1 9.998715e-01 6 15 0 79 2 0 0 0 0 0 2 1 1.000000 143 182 0 78 2 -20.000000 1 1 0 0 1 1 2 3 2.280472 1 0.540000 2.400000 0.637795 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ZSCAN21 7589 broad.mit.edu 37 7 99654807 99654807 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:99654807C>T ENST00000292450.4 + 2 342 c.178C>T c.(178-180)Cga>Tga p.R60* ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CCCTGGACCCCGAGAGGCCCT 0.577000 0 SO:0001587 stop_gained ENST00000292450.4 0 1 hg19 CCDS5681.1 . . . . . . . . . . C 32 5.126050 0.94429 . . ENSG00000166529 ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635 . . . 4.91 3.06 0.35304 . 0.000000 0.35436 N 0.003206 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 5.9397 0.19186 0.189:0.7149:0.0:0.0962 . . . . X 60 . ENSP00000292450:R60X R + 1 2 ZSCAN21 99492743 0.350000 0.24878 0.968000 0.41197 0.669000 0.39330 0.544000 0.23253 0.758000 0.33059 0.655000 0.94253 CGA TCGA-2J-AAB6-01A-11D-A40W-08 ZSCAN21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336166.1 1 0 1 107 321 0 97 0 6.996729e-01 1 8 0 97 2 0 0 0 0 0 2 1 1.000000 105 311 0 95 2 -4.835991 1 1 121412 2 36 1 1 2 3 2.280472 1 0.540000 2.400000 0.637795 0.990000 9.800000e-01 1.000000 1.000000 0.998908 0.990000 1 9.900000e-01 1 ZFAT 57623 broad.mit.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr8:135614834C>T ENST00000377838.3 - 6 1302 c.1128G>A c.(1126-1128)gcG>gcA p.A376A ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGGTCATGCGCGTCTCGGA 0.552000 0 SO:0001819 synonymous_variant ENST00000377838.3 0 1 hg19 CCDS47924.1 TCGA-2J-AAB6-01A-11D-A40W-08 ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378272.1 0 0 0 6 308 0 104 0 0 0 1 0 104 2 0 0 0 0 0 2 1 0.963596 5 304 0 104 2 -2.114022 0 1 121082 2 34 1 0 0 0 1.766479 0 0.540000 2.400000 0.529845 0.070000 2.000000e-02 0.140000 0.070000 0.080058 0.070000 0 4.000000e-02 1.100000e-01 NTNG2 84628 broad.mit.edu 37 9 135114577 135114577 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:135114577C>T ENST00000393229.3 + 6 1917 c.1141C>T c.(1141-1143)Cga>Tga p.R381* NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387* NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 29 GCACAACACGCGAGGTCAGCA 0.607000 0 SO:0001587 stop_gained ENST00000393229.3 0 1 hg19 CCDS6946.1 . . . . . . . . . . C 42 9.475566 0.99181 . . ENSG00000196358 ENST00000393229;ENST00000393228;ENST00000360670 . . . 4.94 3.05 0.35203 . 0.000000 0.64402 D 0.000002 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.10902 T 0.67 . 12.9469 0.58376 0.2951:0.7048:0.0:0.0 . . . . X 381;373;387 . ENSP00000353888:R387X R + 1 2 NTNG2 134104398 0.026000 0.19158 0.331000 0.25455 0.354000 0.29330 0.378000 0.20569 0.471000 0.27319 -0.310000 0.09108 CGA TCGA-2J-AAB6-01A-11D-A40W-08 NTNG2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000054779.1 1 0 1 84 170 0 77 0 2.549748e-01 0 3 0 77 2 0 0 0 0 0 2 1 1.000000 83 168 0 76 2 -9.701947 1 1 0 0 1 0 2 2 1.772324 1 0.540000 2.400000 0.540000 0.990000 9.900000e-01 1.000000 1.000000 0.999413 0.990000 1 9.900000e-01 1 CACNA1F 778 broad.mit.edu 37 X 49063557 49063557 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:49063557G>C ENST00000376265.2 - 44 5234 c.5173C>G c.(5173-5175)Ctc>Gtc p.L1725V CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 85 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) GTGAAAATGAGAGCCCCAGAG 0.547000 0 SO:0001583 missense ENST00000376265.2 0 1 hg19 CCDS35253.1 . . . . . . . . . . G 2.789 -0.251861 0.05829 . . ENSG00000102001 ENST00000376251;ENST00000323022;ENST00000376265 D;D;D 0.96265 -3.96;-3.88;-3.88 3.97 -0.788 0.10939 . 16.143700 0.00166 N 0.000000 D 0.89795 0.6818 N 0.08118 0 0.09310 N 1 B;B 0.21905 0.062;0.001 B;B 0.22152 0.038;0.001 D 0.83992 0.0338 10 0.15499 T 0.54 . 7.2841 0.26328 0.4927:0.0:0.5073:0.0 . 1714;1725 F5CIQ9;O60840 .;CAC1F_HUMAN V 1660;1714;1725 ENSP00000365427:L1660V;ENSP00000321618:L1714V;ENSP00000365441:L1725V ENSP00000321618:L1714V L - 1 0 CACNA1F 48950501 0.029000 0.19370 0.052000 0.19188 0.992000 0.81027 -0.100000 0.10990 -0.292000 0.08999 0.529000 0.55759 CTC TCGA-2J-AAB6-01A-11D-A40W-08 CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358157.1 1 0 0 16 5 0 9 0 0 0 0 9 2 0 0 0 0 0 2 1 0.999999 16 5 0 9 2 -20.000000 1 1 0 0 1 0 1 1 0.540000 2.400000 0.540000 0.940000 7.400000e-01 1.000000 0.990000 0.928455 0.940000 1 8.600000e-01 9.900000e-01