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 GUCY2C 2984 broad.mit.edu 37 12 14774147 14774147 + Frame_Shift_Del DEL C C - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:14774147delC ENST00000261170.3 - 23 2741 c.2605delG c.(2605-2607)gaafs p.E869fs RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 51 Linaclotide(DB08890) CCGATGGTTTCCACCTGTGGA 0.433000 0 SO:0001589 frameshift_variant ENST00000261170.3 0 1 hg19 CCDS8664.1 TCGA-HZ-A77Q-01A-11D-A36O-08 GUCY2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400835.1 1 0 0 26 414 0 117 0 3.860964e-03 0 2 0 117 2 0 0 0 0 1 0.879041 34 400 2 115 19 0 0 0 0 0 0 -3.016822 1 1 0 0 1 0 1 1 1.799347 1 0.230000 1.890000 0.129944 0.450000 0.300000 0.630000 0.450000 0.462958 0.450000 0 3.700000e-01 5.400000e-01 RNF43 54894 broad.mit.edu 37 17 56439980 56439980 + Frame_Shift_Del DEL T T - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 T - T T Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:56439980delT ENST00000584437.1 - 5 2567 c.612delA c.(610-612)acafs p.T204fs RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs Q68DV7 RNF43_HUMAN ring finger protein 43 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCCACCACTGTCATTAGGA 0.592000 0 SO:0001589 frameshift_variant ENST00000584437.1 1 1 hg19 CCDS11607.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RNF43-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444713.1 1 0 0 37 360 0 98 1 4.858765e-02 2 2 0 98 2 1 1 114 1132 0 854 2 1 1.000000 39 358 0 98 2 0 0 0 0 0 0 -12.521570 1 1 0 0 1 0 1 1 1.788829 1 0.230000 1.890000 0.129944 0.700000 0.510000 0.920000 0.710000 0.717421 0.700000 0 6.000000e-01 8.200000e-01 SMAD4 4089 broad.mit.edu 37 18 48591908 48591916 + In_Frame_Del DEL TGGAGGAGA TGGAGGAGA - rs121912576 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 TGGAGGAGA - TGGAGGAGA TGGAGGAGA Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr18:48591908_48591916delTGGAGGAGA ENST00000342988.3 + 9 1609_1617 c.1071_1079delTGGAGGAGA c.(1069-1080)tctggaggagat>tct p.GGD358del SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.G358*(4)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) TGGACCCTTCTGGAGGAGATCGCTTTTGT 0.411000 42 Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2) SO:0001651 inframe_deletion ENST00000342988.3 1 1 hg19 CCDS11950.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 0 28 308 0 90 0 8.788688e-01 0 43 0 90 2 1 1 62 871 0 926 2 1 0.639988 48 321 4 92 29 0 0 0 0 0 0 -3.017764 1 1 0 0 1 0 1 1 1.803354 1 0.230000 1.890000 0.129944 0.630000 0.430000 0.860000 0.630000 0.646029 0.630000 0 5.200000e-01 7.600000e-01 PCLO 27445 broad.mit.edu 37 7 82583922 82583923 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:82583922_82583923delAG ENST00000333891.9 - 5 6683_6684 c.6346_6347delCT c.(6346-6348)cttfs p.L2116fs PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 259 CGAATCTGTAAGAGACGCTCCT 0.436000 0 SO:0001589 frameshift_variant ENST00000333891.9 1 1 hg19 CCDS47630.1 TCGA-HZ-A77Q-01A-11D-A36O-08 PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 1 0 0 22 212 0 72 0 0 0 72 0 0 0 0 1 0.999999 31 213 0 71 2 0 0 0 0 0 0 -20.000000 1 0 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.810000 0.530000 1.000000 1.000000 0.815370 0.810000 0 6.600000e-01 9.900000e-01 BTRC 8945 broad.mit.edu 37 10 103292106 103292106 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:103292106C>A ENST00000370187.3 + 8 1013 c.895C>A c.(895-897)Cga>Aga p.R299R BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 27 Colorectal(252;0.234) AATTCACTGCCGAAGTGAAAC 0.398000 0 SO:0001819 synonymous_variant ENST00000370187.3 1 1 hg19 CCDS7512.1 TCGA-HZ-A77Q-01A-11D-A36O-08 BTRC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049936.1 0 0 0 16 585 0 157 0 5.185707e-02 0 13 0 157 2 0 0 0 0 0 2 1 0.999923 15 576 0 156 2 0 0 0 0 157 2 -2.062870 0 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.220000 0.130000 0.340000 0.220000 0.232253 0.220000 0 1.700000e-01 2.900000e-01 ACADSB 36 broad.mit.edu 37 10 124797320 124797320 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:124797320C>A ENST00000358776.4 + 3 274 c.260C>A c.(259-261)tCg>tAg p.S87* ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain p.S87L(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) L-Isoleucine(DB00167)|Valproic Acid(DB00313) GATGAAAATTCGAAAATGGAG 0.313000 1 Substitution - Missense(1) SO:0001587 stop_gained ENST00000358776.4 0 1 hg19 CCDS7634.1 . . . . . . . . . . C 33 5.221647 0.95139 . . ENSG00000196177 ENST00000358776 . . . 5.93 5.01 0.66863 . 0.132878 0.52532 D 0.000067 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.30854 T 0.27 . 16.3753 0.83383 0.133:0.867:0.0:0.0 . . . . X 87 . ENSP00000357873:S87X S + 2 0 ACADSB 124787310 0.964000 0.33143 0.998000 0.56505 0.979000 0.70002 4.641000 0.61375 1.466000 0.48025 0.655000 0.94253 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 ACADSB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050843.1 0 0 0 11 686 0 153 0 4.508568e-03 1 5 0 153 2 0 0 0 0 0 2 1 0.998148 10 674 0 150 2 0 0 0 0 153 2 -2.292761 0 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.130000 0.060000 0.220000 0.130000 0.141564 0.130000 0 9.000000e-02 1.800000e-01 ZRANB1 54764 broad.mit.edu 37 10 126662279 126662279 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:126662279C>A ENST00000359653.4 + 4 1593 c.1222C>A c.(1222-1224)Caa>Aaa p.Q408K NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) TAGAGACGTTCAAAAAGGTAA 0.328000 0 SO:0001583 missense ENST00000359653.4 0 1 hg19 CCDS7642.1 . . . . . . . . . . C 20.5 3.995286 0.74703 . . ENSG00000019995 ENST00000359653 T 0.20200 2.09 4.95 4.95 0.65309 . 0.000000 0.85682 D 0.000000 T 0.26195 0.0639 M 0.69823 2.125 0.80722 D 1 P 0.43169 0.8 B 0.35899 0.213 T 0.15752 -1.0426 10 0.49607 T 0.09 -25.352 18.3777 0.90440 0.0:1.0:0.0:0.0 . 408 Q9UGI0 ZRAN1_HUMAN K 408 ENSP00000352676:Q408K ENSP00000352676:Q408K Q + 1 0 ZRANB1 126652269 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 5.593000 0.67550 2.562000 0.86427 0.650000 0.86243 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 ZRANB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050898.1 0 0 0 11 818 0 192 0 9.345083e-02 0 35 0 192 2 0 0 0 0 0 2 1 0.998172 12 803 0 191 2 0 0 0 0 192 2 -2.402909 0 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.110000 0.050000 0.190000 0.110000 0.119192 0.110000 0 7.000000e-02 1.500000e-01 FRMD4A 55691 broad.mit.edu 37 10 13712473 13712473 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:13712473G>T ENST00000357447.2 - 17 1675 c.1307C>A c.(1306-1308)cCc>cAc p.P436H FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 41 CCGAACAATGGGTGGTTCCTC 0.502000 0 SO:0001583 missense ENST00000357447.2 0 1 hg19 CCDS7101.1 . . . . . . . . . . G 27.9 4.874849 0.91664 . . ENSG00000151474 ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546 D;D;D;D 0.88201 -2.34;-2.35;-2.35;-2.14 5.18 5.18 0.71444 . 0.000000 0.85682 D 0.000000 D 0.93501 0.7926 L 0.56396 1.775 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.93758 0.7064 10 0.72032 D 0.01 -23.2153 18.8905 0.92399 0.0:0.0:1.0:0.0 . 469;436 Q5T376;Q9P2Q2 .;FRM4A_HUMAN H 421;436;436;469 ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H ENSP00000264546:P469H P - 2 0 FRMD4A 13752479 1.000000 0.71417 0.999000 0.59377 0.864000 0.49448 9.610000 0.98337 2.707000 0.92482 0.655000 0.94253 CCC TCGA-HZ-A77Q-01A-11D-A36O-08 FRMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000046889.1 0 0 0 7 355 0 91 0 7.484993e-02 0 20 0 91 2 0 0 0 0 0 2 1 0.980075 7 351 0 91 2 0 0 0 0 91 2 -2.822692 1 1 0 0 1 0 0 0 1.901996 0 0.230000 1.890000 0.176999 0.160000 0.070000 0.300000 0.160000 0.176515 0.160000 0 1.100000e-01 2.300000e-01 CCDC7 79741 broad.mit.edu 37 10 32780874 32780874 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:32780874G>T ENST00000362006.5 + 10 1364 c.821G>T c.(820-822)cGa>cTa p.R274L CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 14 Breast(68;0.000207)|Prostate(175;0.0107) ATGACTAATCGATTTAATGCC 0.249000 0 SO:0001583 missense ENST00000362006.5 0 1 hg19 CCDS7173.1 . . . . . . . . . . G 14.77 2.633269 0.47049 . . ENSG00000216937 ENST00000277657;ENST00000362006 T;T 0.38887 1.11;1.11 4.13 -2.58 0.06228 . . . . . T 0.34832 0.0911 L 0.34521 1.04 0.09310 N 1 P 0.46064 0.872 P 0.46685 0.524 T 0.35943 -0.9768 9 0.66056 D 0.02 -5.7463 9.3861 0.38345 0.7177:0.0:0.2823:0.0 . 274 Q96M83 CCDC7_HUMAN L 274 ENSP00000277657:R274L;ENSP00000355078:R274L ENSP00000277657:R274L R + 2 0 CCDC7 32820880 0.000000 0.05858 0.000000 0.03702 0.057000 0.15508 -0.418000 0.07080 -0.510000 0.06523 0.561000 0.74099 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 CCDC7-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047490.1 0 0 0 20 1165 0 256 0 0 0 0 256 2 0 0 0 0 0 2 1 0.999994 19 1144 0 255 2 0 0 0 0 256 2 -2.353722 0 1 0 0 1 0 0 0 1.901996 0 0.230000 1.890000 0.176999 0.130000 0.080000 0.210000 0.140000 0.143368 0.130000 0 1.000000e-01 1.700000e-01 GDI2 2665 broad.mit.edu 37 10 5827938 5827938 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:5827938G>T ENST00000380191.4 - 5 754 c.464C>A c.(463-465)cCa>cAa p.P155Q GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 10 AAAAGTTCTTGGATCTTTTTC 0.348000 0 SO:0001583 missense ENST00000380191.4 0 1 hg19 CCDS7071.1 . . . . . . . . . . G 13.97 2.396501 0.42512 . . ENSG00000057608 ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688 T;T;T;T;T 0.59772 0.24;0.24;0.24;0.24;0.24 5.31 5.31 0.75309 . 0.364847 0.34932 N 0.003574 T 0.69278 0.3093 M 0.86420 2.815 0.80722 D 1 B;B;B 0.19331 0.035;0.025;0.008 B;B;B 0.31442 0.117;0.13;0.073 T 0.70572 -0.4835 10 0.66056 D 0.02 -11.3866 18.9459 0.92622 0.0:0.0:1.0:0.0 . 159;110;155 E7EU23;Q5SX88;P50395 .;.;GDIB_HUMAN Q 155;159;110;145;119 ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q ENSP00000369475:P159Q P - 2 0 GDI2 5867944 1.000000 0.71417 0.149000 0.22428 0.114000 0.19823 9.668000 0.98619 2.653000 0.90120 0.655000 0.94253 CCA TCGA-HZ-A77Q-01A-11D-A36O-08 GDI2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046580.1 0 0 0 7 457 0 118 0 9.531543e-01 0 355 0 118 2 0 0 0 0 0 2 1 0.979208 7 447 0 116 2 0 0 0 0 118 2 -2.528173 1 1 0 0 1 0 0 0 1.901996 0 0.230000 1.890000 0.176999 0.120000 0.050000 0.240000 0.120000 0.138272 0.120000 0 8.000000e-02 1.800000e-01 ANK3 288 broad.mit.edu 37 10 61824022 61824022 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:61824022G>T ENST00000280772.2 - 39 12535 c.12344C>A c.(12343-12345)tCa>tAa p.S4115* ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 196 TTCATCCACTGAAAAATTCAG 0.313000 0 SO:0001587 stop_gained ENST00000280772.2 0 1 hg19 CCDS7258.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 37|37 6.037921|6.037921 0.97226|0.97226 .|. .|. ENSG00000151150|ENSG00000151150 ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817 .|. .|. .|. 5.4|5.4 5.4|5.4 0.78164|0.78164 .|. .|0.000000 .|0.34245 .|N .|0.004129 T|. 0.53334|. 0.1790|. .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|. 0.42816|. -0.9429|. 4|. .|0.07813 .|T .|0.8 .|. 19.1741|19.1741 0.93597|0.93597 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|. .|. .|. K|X 9;62|4115;1496;94;636;636;1503;1482;737 .|. .|ENSP00000280772:S4115X Q|S -|- 1|2 0|0 ANK3|ANK3 61494028|61494028 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 7.863000|7.863000 0.87023|0.87023 2.530000|2.530000 0.85305|0.85305 0.655000|0.655000 0.94253|0.94253 CAG|TCA TCGA-HZ-A77Q-01A-11D-A36O-08 ANK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000048201.4 0 0 0 9 401 0 97 0 2.483306e-02 0 10 0 97 2 0 0 0 0 0 2 1 0.993940 9 395 0 97 2 0 0 0 0 97 2 -2.898622 1 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.180000 0.090000 0.330000 0.180000 0.199305 0.180000 0 1.300000e-01 2.600000e-01 TET1 80312 broad.mit.edu 37 10 70450608 70450608 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:70450608C>A ENST00000373644.4 + 12 5657 c.5448C>A c.(5446-5448)acC>acA p.T1816T NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 21 AAAGTGAAACCGAACCCCATT 0.428000 0 SO:0001819 synonymous_variant ENST00000373644.4 0 1 hg19 CCDS7281.1 TCGA-HZ-A77Q-01A-11D-A36O-08 TET1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048354.1 0 0 0 8 455 0 143 0 0 0 1 0 143 2 0 0 0 0 0 2 1 0.988619 7 447 0 139 2 0 0 0 0 143 2 -2.523747 1 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.140000 0.060000 0.270000 0.140000 0.159116 0.140000 0 1.000000e-01 2.100000e-01 ANXA11 311 broad.mit.edu 37 10 81930605 81930605 + Missense_Mutation SNP T T C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr10:81930605T>C ENST00000438331.1 - 5 604 c.122A>G c.(121-123)aAc>aGc p.N41S ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 p.N41I(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GGTGGCCACGTTATCCAGCCC 0.652000 1 Substitution - Missense(1) SO:0001583 missense ENST00000438331.1 1 1 hg19 CCDS7364.1 . . . . . . . . . . . 12.38 1.921685 0.33908 . . ENSG00000122359 ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799 T;T;T;T;T;T;T 0.02280 4.55;4.55;4.55;4.55;4.55;4.55;4.36 4.69 4.69 0.59074 . 3.387150 0.00706 N 0.000810 T 0.06735 0.0172 N 0.22421 0.69 0.45066 D 0.998081 D;D;D 0.63880 0.993;0.993;0.993 D;D;D 0.70227 0.968;0.935;0.935 T 0.52124 -0.8617 10 0.08381 T 0.77 . 12.4176 0.55502 0.0:0.0:0.0:1.0 . 141;41;41 B7Z6L0;Q5T0G8;P50995 .;.;ANX11_HUMAN S 41;41;41;41;41;41;41;8;41;41 ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S ENSP00000265447:N41S N - 2 0 ANXA11 81920585 1.000000 0.71417 0.992000 0.48379 0.096000 0.18686 4.811000 0.62606 1.886000 0.54624 0.364000 0.22116 AAC TCGA-HZ-A77Q-01A-11D-A36O-08 ANXA11-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049044.1 1 0 1 17 248 0 76 1 9.999964e-01 53 282 0 76 2 0 0 0 0 0 2 1 0.999967 17 245 0 76 2 0 0 0 0 76 2 -19.932470 1 1 0 0 1 0 1 1 1.914114 0 0.230000 1.890000 0.192872 0.530000 0.320000 0.800000 0.530000 0.550397 0.530000 0 4.200000e-01 6.700000e-01 EIF4G2 1982 broad.mit.edu 37 11 10823915 10823915 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G T G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:10823915G>T ENST00000526148.1 - 12 1574 c.1064C>A c.(1063-1065)cCg>cAg p.P355Q SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q NM_001172705.1 NP_001166176 eukaryotic translation initiation factor 4 gamma, 2 43 TGGCATGAACGGTCCCTCCAG 0.438000 0 SO:0001583 missense ENST00000526148.1 0 1 hg19 CCDS31428.1 . . . . . . . . . . G 18.17 3.564900 0.65651 . . ENSG00000110321 ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416 T;T;T;T;T 0.22743 2.27;2.27;2.27;2.25;1.94 5.77 5.77 0.91146 . 0.096982 0.64402 D 0.000001 T 0.22627 0.0546 L 0.36672 1.1 0.35089 D 0.764105 P;P;P 0.43578 0.662;0.532;0.811 B;B;B 0.40134 0.32;0.171;0.119 T 0.02668 -1.1126 9 0.51188 T 0.08 -4.9893 20.3626 0.98863 0.0:0.0:1.0:0.0 . 355;355;428 P78344-2;P78344;B4DZF2 .;IF4G2_HUMAN;. Q 355;355;355;355;428;355 ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q ENSP00000340281:P355Q P - 2 0 EIF4G2 10780491 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 6.313000 0.72844 2.885000 0.99019 0.655000 0.94253 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 EIF4G2-006 KNOWN alternative_5_UTR|non_ATG_start|basic|CCDS protein_coding protein_coding OTTHUMT00000386603.1 0 0 0 9 773 0 184 0 9.932455e-01 1 754 0 184 2 0 0 0 0 0 2 1 0.993636 9 756 0 180 2 0 0 0 0 184 2 -2.107972 0 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.100000 0.040000 0.200000 0.100000 0.119405 0.100000 0 7.000000e-02 1.500000e-01 HTR3A 3359 broad.mit.edu 37 11 113856786 113856786 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:113856786C>A ENST00000504030.2 + 6 1039 c.594C>A c.(592-594)tcC>tcA p.S198S HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246) AGGTGAAATCCGACAGGAGTG 0.502000 0 SO:0001819 synonymous_variant ENST00000504030.2 0 1 hg19 TCGA-HZ-A77Q-01A-11D-A36O-08 HTR3A-001 KNOWN upstream_ATG|basic|appris_principal protein_coding protein_coding OTTHUMT00000360822.2 0 0 0 10 897 0 237 0 0 0 1 0 237 2 0 0 0 0 0 2 1 0.996708 12 885 0 236 2 0 0 0 0 237 2 -1.759563 0 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.090000 0.040000 0.190000 0.100000 0.113847 0.090000 0 6.000000e-02 1.400000e-01 TRAF6 7189 broad.mit.edu 37 11 36518716 36518716 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:36518716G>T ENST00000526995.1 - 4 794 c.548C>A c.(547-549)cCa>cAa p.P183Q TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q|TRAF6_ENST00000529150.1_5'Flank NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 27 all_lung(20;0.211) all_hematologic(20;0.107) CTGTCTCCTTGGACAATCCTT 0.383000 0 SO:0001583 missense ENST00000526995.1 0 1 hg19 CCDS7901.1 . . . . . . . . . . G 13.42 2.231445 0.39399 . . ENSG00000175104 ENST00000526995;ENST00000348124 T;T 0.32023 1.47;1.47 5.49 4.58 0.56647 Zinc finger, TRAF-type (1); 0.202993 0.47093 D 0.000247 T 0.25494 0.0620 L 0.58428 1.81 0.45806 D 0.99868 P 0.40266 0.71 B 0.31442 0.13 T 0.06075 -1.0847 10 0.13470 T 0.59 -14.1184 14.391 0.66978 0.0711:0.0:0.9289:0.0 . 183 Q9Y4K3 TRAF6_HUMAN Q 183 ENSP00000433623:P183Q;ENSP00000337853:P183Q ENSP00000337853:P183Q P - 2 0 TRAF6 36475292 0.994000 0.37717 1.000000 0.80357 0.999000 0.98932 1.971000 0.40530 1.325000 0.45301 0.650000 0.86243 CCA TCGA-HZ-A77Q-01A-11D-A36O-08 TRAF6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389530.1 0 0 0 8 395 0 68 0 1.375718e-02 0 8 0 68 2 0 0 0 0 0 2 1 0.989204 8 392 0 67 2 0 0 0 0 68 2 -2.868269 1 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.180000 0.080000 0.350000 0.180000 0.200005 0.180000 0 1.200000e-01 2.600000e-01 FOLH1 2346 broad.mit.edu 37 11 49208253 49208253 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:49208253G>T ENST00000256999.2 - 5 842 c.582C>A c.(580-582)atC>atA p.I194I FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I NM_004476.1 NP_004467.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 60 Capromab(DB00089) CAGAGCAATTGATTTTCATGT 0.363000 0 SO:0001819 synonymous_variant ENST00000256999.2 0 1 hg19 CCDS7946.1 TCGA-HZ-A77Q-01A-11D-A36O-08 FOLH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390896.1 0 0 0 11 602 0 137 0 1.049720e-02 0 8 0 137 2 0 0 0 0 0 2 0 0.253996 10 588 1 142 15 0 0 0 0 137 2 -3.094881 1 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.160000 0.080000 0.290000 0.160000 0.177281 0.160000 0 1.100000e-01 2.200000e-01 OR5T1 390155 broad.mit.edu 37 11 56043180 56043180 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:56043180C>A ENST00000313033.2 + 1 152 c.66C>A c.(64-66)acC>acA p.T22T NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 43 Esophageal squamous(21;0.00448) CTGAAGTCACCATGTTTATAT 0.299000 0 SO:0001819 synonymous_variant ENST00000313033.2 0 1 hg19 CCDS31525.1 TCGA-HZ-A77Q-01A-11D-A36O-08 OR5T1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391600.1 0 0 0 11 708 0 161 0 0 0 0 161 2 0 0 0 0 0 2 1 0.998237 11 700 0 161 2 0 0 0 0 161 2 -1.987976 0 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.130000 0.060000 0.250000 0.140000 0.152770 0.130000 0 9.000000e-02 1.900000e-01 OR8H1 219469 broad.mit.edu 37 11 56058331 56058331 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:56058331C>A ENST00000313022.2 - 1 235 c.208G>T c.(208-210)Gac>Tac p.D70Y NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 43 Esophageal squamous(21;0.00448) TAACTGAGGTCAATAAATGAC 0.413000 0 SO:0001583 missense ENST00000313022.2 0 1 hg19 CCDS31526.1 . . . . . . . . . . C 12.38 1.920585 0.33908 . . ENSG00000181693 ENST00000313022;ENST00000395186 T 0.01185 5.21 3.94 3.94 0.45596 GPCR, rhodopsin-like superfamily (1); 0.000000 0.56097 D 0.000034 T 0.11879 0.0289 H 0.96777 3.88 0.39098 D 0.961238 D 0.71674 0.998 D 0.66979 0.948 T 0.25606 -1.0127 10 0.87932 D 0 . 16.4739 0.84127 0.0:1.0:0.0:0.0 . 70 Q8NGG4 OR8H1_HUMAN Y 70;66 ENSP00000323595:D70Y ENSP00000323595:D70Y D - 1 0 OR8H1 55814907 0.997000 0.39634 0.932000 0.37286 0.004000 0.04260 4.149000 0.58091 2.147000 0.66899 0.544000 0.68410 GAC TCGA-HZ-A77Q-01A-11D-A36O-08 OR8H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000370019.1 0 0 0 12 1070 0 333 0 0 0 0 333 2 0 0 0 0 0 2 1 0.998989 11 1049 0 333 2 0 0 0 0 333 2 -2.402354 0 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.090000 0.040000 0.180000 0.100000 0.112975 0.090000 0 7.000000e-02 1.300000e-01 OR52E8 390079 broad.mit.edu 37 11 5878217 5878217 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:5878217C>A ENST00000537935.1 - 1 747 c.716G>T c.(715-717)cGa>cTa p.R239L TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) AGCTTTGAGTCGAGCTTCCCA 0.418000 0 SO:0001583 missense ENST00000537935.1 0 1 hg19 CCDS31400.1 . . . . . . . . . . C 13.95 2.389468 0.42410 . . ENSG00000183269 ENST00000537935 T 0.00330 8.08 4.42 3.47 0.39725 GPCR, rhodopsin-like superfamily (1); 0.129746 0.34700 N 0.003757 T 0.00936 0.0031 M 0.93375 3.41 0.09310 N 1 D 0.64830 0.994 D 0.69824 0.966 T 0.24333 -1.0163 10 0.87932 D 0 . 7.2403 0.26092 0.1727:0.7351:0.0:0.0922 . 239 Q6IFG1 O52E8_HUMAN L 239 ENSP00000444054:R239L ENSP00000444054:R239L R - 2 0 OR52E8 5834793 0.000000 0.05858 0.001000 0.08648 0.792000 0.44763 0.588000 0.23924 1.169000 0.42739 0.549000 0.68633 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 OR52E8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401145.1 0 0 0 10 568 0 129 0 0 0 0 129 2 0 0 0 0 0 2 1 0.996727 10 561 0 127 2 0 0 0 0 129 2 -3.302136 1 1 121044 5 39 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.150000 0.070000 0.290000 0.150000 0.172535 0.150000 0 1.100000e-01 2.200000e-01 NAALAD2 10003 broad.mit.edu 37 11 89914807 89914807 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr11:89914807G>T ENST00000534061.1 + 17 2108 c.1878G>T c.(1876-1878)gtG>gtT p.V626V NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTTCTGCTGTGAAAAACTTCT 0.318000 0 SO:0001819 synonymous_variant ENST00000534061.1 0 1 hg19 CCDS8288.1 TCGA-HZ-A77Q-01A-11D-A36O-08 NAALAD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389424.2 0 0 0 11 590 0 130 0 0 0 0 130 2 0 0 0 0 0 2 1 0.998243 10 584 0 130 2 0 0 0 0 130 2 -2.864357 1 1 0 0 1 1 2 3 2.026526 0 0.230000 1.890000 0.231767 0.160000 0.080000 0.300000 0.160000 0.180596 0.160000 0 1.100000e-01 2.200000e-01 GAS2L3 283431 broad.mit.edu 37 12 101016096 101016096 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:101016096G>T ENST00000539410.1 + 8 1078 c.692G>T c.(691-693)cGa>cTa p.R231L GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 35 TGTTCTCATCGATTTTCTATT 0.318000 0 SO:0001583 missense ENST00000539410.1 0 1 hg19 CCDS9079.1 . . . . . . . . . . G 20.7 4.042073 0.75732 . . ENSG00000139354 ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410 T;T;T;T 0.26660 1.73;1.73;1.72;1.73 5.9 5.9 0.94986 Growth-arrest-specific protein 2 domain (4); 0.189964 0.43919 D 0.000502 T 0.41558 0.1164 L 0.31476 0.935 0.35362 D 0.78831 D 0.60575 0.988 D 0.66351 0.943 T 0.44143 -0.9347 10 0.62326 D 0.03 -14.7321 20.2723 0.98479 0.0:0.0:1.0:0.0 . 231 Q86XJ1 GA2L3_HUMAN L 231;231;127;231 ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L ENSP00000266754:R231L R + 2 0 GAS2L3 99540227 1.000000 0.71417 0.991000 0.47740 0.648000 0.38561 3.905000 0.56333 2.793000 0.96121 0.563000 0.77884 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 GAS2L3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409143.1 0 0 0 10 624 0 127 0 0 0 1 0 127 2 0 0 0 0 0 2 1 0.996709 10 616 0 126 2 0 0 0 0 127 2 -2.585698 1 1 0 0 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.140000 0.060000 1.000000 0.140000 0.190546 0.140000 0 1.000000e-01 2.100000e-01 ACACB 32 broad.mit.edu 37 12 109610126 109610126 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:109610126C>A ENST00000338432.7 + 6 1201 c.1082C>A c.(1081-1083)cCg>cAg p.P361Q ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 95 Adenine(DB00173)|Biotin(DB00121) CCTAAACTTCCGGAGCTGCTG 0.517000 0 SO:0001583 missense ENST00000338432.7 0 1 hg19 CCDS31898.1 . . . . . . . . . . C 32 5.155578 0.94686 . . ENSG00000076555 ENST00000338432;ENST00000377848;ENST00000377854 D;D;D 0.92545 -3.06;-3.06;-3.06 5.23 5.23 0.72850 ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1); 0.000000 0.85682 D 0.000000 D 0.97015 0.9025 M 0.90922 3.16 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.97700 1.0184 10 0.87932 D 0 . 18.7639 0.91864 0.0:1.0:0.0:0.0 . 361 O00763 ACACB_HUMAN Q 361 ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q ENSP00000341044:P361Q P + 2 0 ACACB 108094509 1.000000 0.71417 0.996000 0.52242 0.986000 0.74619 7.776000 0.85560 2.607000 0.88179 0.655000 0.94253 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 ACACB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403077.1 0 0 0 9 861 0 240 0 4.836505e-03 0 9 0 240 2 0 0 0 0 0 2 1 0.993417 10 838 0 238 2 0 0 0 0 240 2 -1.777990 0 1 0 0 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.090000 0.040000 1.000000 0.090000 0.142297 0.090000 0 6.000000e-02 1.400000e-01 SBNO1 55206 broad.mit.edu 37 12 123794299 123794299 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:123794299G>T ENST00000602398.1 - 26 3527 c.3400C>A c.(3400-3402)Caa>Aaa p.Q1134K SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) TTGGCATTTTGAACAACTGCA 0.383000 0 SO:0001583 missense ENST00000602398.1 0 1 hg19 CCDS53844.1 . . . . . . . . . . G 11.59 1.682710 0.29872 . . ENSG00000139697 ENST00000420886;ENST00000267176 T;T 0.28255 1.62;1.62 5.3 4.4 0.53042 . 0.072967 0.56097 D 0.000032 T 0.18467 0.0443 N 0.14661 0.345 0.48632 D 0.999684 B;B;B 0.33777 0.425;0.372;0.005 B;B;B 0.31812 0.136;0.083;0.011 T 0.07539 -1.0767 10 0.26408 T 0.33 -15.4955 14.3194 0.66476 0.0732:0.0:0.9268:0.0 . 1134;1133;245 A3KN83;A3KN83-2;B3KUC1 SBNO1_HUMAN;.;. K 1134;1133 ENSP00000387361:Q1134K;ENSP00000267176:Q1133K ENSP00000267176:Q1133K Q - 1 0 SBNO1 122360252 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 4.590000 0.61013 2.471000 0.83476 0.467000 0.42956 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 SBNO1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000467684.1 0 0 0 14 807 0 195 0 2.354374e-02 0 13 0 195 2 0 0 0 0 0 2 1 0.999706 12 789 0 194 2 0 0 0 0 195 2 -2.227783 0 1 0 0 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.150000 0.080000 1.000000 0.150000 0.198448 0.150000 0 1.100000e-01 2.100000e-01 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 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 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 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 28.6 4.930538 0.92389 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.80722 D 1 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 22 292 0 72 1 2.444290e-01 4 9 0 72 2 1 1 47 369 0 430 2 1 0.999999 22 287 0 71 2 1 1 1253 6780 0 72 2 -7.220598 1 1 0 0 1 0 1 1 1.799347 1 0.230000 1.890000 0.129944 0.530000 0.340000 0.760000 0.530000 0.548105 0.530000 0 4.300000e-01 6.500000e-01 ADAMTS20 80070 broad.mit.edu 37 12 43825211 43825211 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:43825211G>T ENST00000389420.3 - 22 3184 c.3185C>A c.(3184-3186)tCa>tAa p.S1062* ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) TTTGGTACTTGAATTACAGAA 0.433000 0 SO:0001587 stop_gained ENST00000389420.3 0 1 hg19 CCDS31778.2 . . . . . . . . . . g 37 6.446143 0.97572 . . ENSG00000173157 ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417 . . . 3.97 3.06 0.35304 . 0.504438 0.16887 N 0.195457 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.06236 T 0.91 . 8.0962 0.30829 0.253:0.0:0.747:0.0 . . . . X 1062;228;216;1062;1062 . ENSP00000374068:S1062X S - 2 0 ADAMTS20 42111478 0.973000 0.33851 0.280000 0.24747 0.557000 0.35523 1.659000 0.37387 2.140000 0.66376 0.651000 0.88453 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403643.1 0 0 0 9 493 0 130 0 0 0 0 130 2 0 0 0 0 0 2 1 0.994087 9 489 0 129 2 0 0 0 0 130 2 -2.803499 1 1 0 0 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.160000 0.070000 1.000000 0.160000 0.211459 0.160000 0 1.100000e-01 2.400000e-01 SLC16A7 9194 broad.mit.edu 37 12 60169011 60169011 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:60169011G>T ENST00000261187.4 + 4 1099 c.935G>T c.(934-936)cGa>cTa p.R312L SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 p.R312Q(1)|p.R312L(1) 30 Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119) ATTCGACCTCGAATTCAGTAC 0.423000 2 Substitution - Missense(2) SO:0001583 missense ENST00000261187.4 0 1 hg19 CCDS8961.1 . . . . . . . . . . G 18.85 3.710851 0.68730 . . ENSG00000118596 ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448 D;D;D;D;D;D 0.83250 -1.7;-1.7;-1.7;-1.7;-1.7;-1.7 5.76 5.76 0.90799 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.261657 0.32533 N 0.005972 D 0.87071 0.6086 L 0.52364 1.645 0.43283 D 0.995255 D 0.65815 0.995 D 0.70935 0.971 D 0.85382 0.1120 9 . . . . 11.3564 0.49617 0.1093:0.0:0.8907:0.0 . 312 O60669 MOT2_HUMAN L 312;312;312;312;312;213 ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L . R + 2 0 SLC16A7 58455278 1.000000 0.71417 1.000000 0.80357 0.838000 0.47535 3.668000 0.54554 2.880000 0.98712 0.650000 0.86243 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 SLC16A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406587.1 0 0 0 10 677 0 199 0 2.658502e-03 0 5 0 199 2 0 0 0 0 0 2 0 0.259313 10 671 1 195 14 0 0 0 0 199 2 -2.508910 1 1 121412 1 36 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.130000 0.060000 1.000000 0.130000 0.179553 0.130000 0 9.000000e-02 1.900000e-01 CAPS2 84698 broad.mit.edu 37 12 75678746 75678746 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr12:75678746G>T ENST00000409445.3 - 16 1763 c.1567C>A c.(1567-1569)Cga>Aga p.R523R CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Silent_p.R113R NM_032606.3 NP_115995.2 Q9BXY5 CAYP2_HUMAN calcyphosine 2 10 GTTACCTTTCGAACATATGAT 0.274000 0 SO:0001819 synonymous_variant ENST00000409445.3 0 1 hg19 CCDS9008.2 TCGA-HZ-A77Q-01A-11D-A36O-08 CAPS2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000327880.2 0 0 0 10 410 0 94 0 7.394709e-04 0 2 0 94 2 0 0 0 0 0 2 1 0.996807 10 406 0 94 2 0 0 0 0 94 2 -3.131499 1 1 0 0 1 1 2 3 2.044481 0 0.230000 1.890000 0.235277 0.210000 0.100000 1.000000 0.210000 0.262796 0.210000 0 1.500000e-01 3.100000e-01 KDELC1 79070 broad.mit.edu 37 13 103443642 103443642 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:103443642C>A ENST00000376004.4 - 5 1147 c.811G>T c.(811-813)Gat>Tat p.D271Y KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCAGTCAAATCGTACGTAGGC 0.453000 0 SO:0001583 missense ENST00000376004.4 0 1 hg19 CCDS9504.1 . . . . . . . . . . C 21.0 4.078147 0.76528 . . ENSG00000134901 ENST00000376004 T 0.24723 1.84 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 T 0.58395 0.2119 M 0.83603 2.65 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.61262 -0.7098 10 0.87932 D 0 . 20.2985 0.98592 0.0:1.0:0.0:0.0 . 271 Q6UW63 KDEL1_HUMAN Y 271 ENSP00000365172:D271Y ENSP00000365172:D271Y D - 1 0 KDELC1 102241643 1.000000 0.71417 0.884000 0.34674 0.466000 0.32739 7.818000 0.86416 2.793000 0.96121 0.655000 0.94253 GAT TCGA-HZ-A77Q-01A-11D-A36O-08 KDELC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045699.1 0 0 0 14 1221 1 352 0 6.585981e-02 0 34 1 352 2 0 0 0 0 0 2 0 0.551847 13 1197 1 349 14 0 0 0 1 352 2 -2.277407 0 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.090000 0.050000 0.160000 0.100000 0.104912 0.090000 0 7.000000e-02 1.300000e-01 COL4A2 1284 broad.mit.edu 37 13 110960263 110960263 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:110960263C>A ENST00000360467.5 + 2 319 c.13C>A c.(13-15)Cag>Aag p.Q5K COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGGAGAGACCAGCGCGCGGT 0.662000 0 SO:0001583 missense ENST00000360467.5 1 1 hg19 CCDS41907.1 . . . . . . . . . . C 3.138 -0.176863 0.06380 . . ENSG00000134871 ENST00000400163;ENST00000360467;ENST00000257309 D;D 0.90676 -2.71;-2.69 3.37 2.41 0.29592 . . . . . T 0.74943 0.3783 N 0.08118 0 0.09310 N 1 B 0.14012 0.009 B 0.09377 0.004 T 0.62388 -0.6865 9 0.02654 T 1 . 7.2031 0.25891 0.2652:0.7348:0.0:0.0 . 5 P08572 CO4A2_HUMAN K 5 ENSP00000383027:Q5K;ENSP00000353654:Q5K ENSP00000257309:Q5K Q + 1 0 COL4A2 109758264 0.001000 0.12720 0.007000 0.13788 0.117000 0.20001 0.298000 0.19120 1.882000 0.54519 0.561000 0.74099 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 COL4A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045761.2 1 0 1 30 221 0 85 0 1 0 287 0 85 2 0 0 0 0 0 2 1 1.000000 29 213 0 83 2 0 0 0 0 85 2 -20.000000 1 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.990000 0.720000 1.000000 1.000000 0.952557 0.990000 1 8.600000e-01 1 UPF3A 65110 broad.mit.edu 37 13 115057115 115057115 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:115057115C>A ENST00000375299.3 + 7 750 c.694C>A c.(694-696)Cga>Aga p.R232R UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) p.R232*(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) TTAGAGAATTCgagaagagaa 0.448000 1 Substitution - Nonsense(1) SO:0001819 synonymous_variant ENST00000375299.3 0 1 hg19 CCDS9543.1 TCGA-HZ-A77Q-01A-11D-A36O-08 UPF3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045968.2 0 0 0 14 852 0 181 0 5.689728e-02 0 22 0 181 2 0 0 0 0 0 2 0 0.342963 14 839 1 180 17 0 0 0 0 181 2 -2.431920 0 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.140000 0.070000 0.230000 0.140000 0.149339 0.140000 0 1.000000e-01 1.900000e-01 MLNR 2862 broad.mit.edu 37 13 49796387 49796387 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:49796387C>A ENST00000218721.1 + 2 1113 c.1113C>A c.(1111-1113)ctC>ctA p.L371L MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) AACTGCTGCTCGCAAGGAAGT 0.547000 0 SO:0001819 synonymous_variant ENST00000218721.1 0 1 hg19 CCDS9414.1 TCGA-HZ-A77Q-01A-11D-A36O-08 MLNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044897.1 0 0 0 9 681 0 186 0 0 0 0 186 2 0 0 0 0 0 2 1 0.993819 9 670 0 184 2 0 0 0 0 186 2 -3.016190 1 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.110000 0.050000 0.210000 0.120000 0.124755 0.110000 0 8.000000e-02 1.600000e-01 SUGT1 10910 broad.mit.edu 37 13 53231718 53231718 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:53231718C>A ENST00000343788.6 + 3 230 c.148C>A c.(148-150)Caa>Aaa p.Q50K SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR NM_001130912.1 NP_001124384.1 Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GTATTATTGTCAAAGAGCTTA 0.353000 0 SO:0001583 missense ENST00000343788.6 0 1 hg19 CCDS45050.1 . . . . . . . . . . C 13.93 2.383544 0.42207 . . ENSG00000165416 ENST00000343788;ENST00000310528 T;T 0.59364 0.27;0.27 4.21 4.21 0.49690 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.059373 0.64402 D 0.000002 T 0.43433 0.1247 N 0.21508 0.67 0.80722 D 1 P;P 0.36599 0.56;0.459 B;B 0.40659 0.336;0.175 T 0.37079 -0.9721 10 0.02654 T 1 -2.4714 15.6949 0.77488 0.0:1.0:0.0:0.0 . 50;50 Q9Y2Z0;Q9Y2Z0-2 SUGT1_HUMAN;. K 50 ENSP00000367208:Q50K;ENSP00000308067:Q50K ENSP00000308067:Q50K Q + 1 0 SUGT1 52129719 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 5.484000 0.66844 2.047000 0.60756 0.467000 0.42956 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 SUGT1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000045104.2 0 0 0 8 361 0 72 0 6.346244e-01 0 94 0 72 2 0 0 0 0 0 2 1 0.988447 8 352 0 71 2 0 0 0 0 72 2 -3.125189 1 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.190000 0.080000 0.350000 0.190000 0.208538 0.190000 0 1.300000e-01 2.700000e-01 DACH1 1602 broad.mit.edu 37 13 72204773 72204773 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr13:72204773G>T ENST00000359684.2 - 3 1046 c.1047C>A c.(1045-1047)atC>atA p.I349I DACH1_ENST00000305425.4_Silent_p.I349I|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.I349I Q9UI36 DACH1_HUMAN dachshund family transcription factor 1 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) CTTCTAATTTGATTTTTTTCA 0.408000 0 SO:0001819 synonymous_variant ENST00000359684.2 0 1 hg19 TCGA-HZ-A77Q-01A-11D-A36O-08 DACH1-002 KNOWN not_organism_supported|basic protein_coding protein_coding OTTHUMT00000045240.1 0 0 0 15 817 0 238 0 3.905857e-04 0 2 0 238 2 0 0 0 0 0 2 1 0.999859 17 806 0 238 2 0 0 0 0 238 2 -1.993383 0 1 0 0 1 0 1 1 2.023901 0 0.230000 1.890000 0.228225 0.150000 0.080000 0.250000 0.160000 0.165764 0.150000 0 1.100000e-01 2.100000e-01 HHIPL1 84439 broad.mit.edu 37 14 100123403 100123403 + Silent SNP C C T rs140994822 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr14:100123403C>T ENST00000330710.5 + 3 1067 c.969C>T c.(967-969)gaC>gaT p.D323D HHIPL1_ENST00000357223.2_Silent_p.D323D NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 15 Melanoma(154;0.128) TCGGGGATGACGGGTACCTCT 0.512000 0 SO:0001819 synonymous_variant ENST00000330710.5 1 1 hg19 CCDS45162.1 TCGA-HZ-A77Q-01A-11D-A36O-08 HHIPL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413811.1 0 0 0 154 1216 1 411 0 7.005874e-01 0 21 1 411 2 0 0 0 0 0 2 1 1.000000 148 1169 1 409 13 0 0 0 1 411 2 -20.000000 1 0 121412 15 49 1 0 1 1 2.017727 0 0.230000 1.890000 0.226442 0.960000 0.820000 1.000000 1.000000 0.956347 0.960000 1 8.900000e-01 1 ACOT4 122970 broad.mit.edu 37 14 74060538 74060538 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr14:74060538C>A ENST00000326303.4 + 2 844 c.590C>A c.(589-591)cCc>cAc p.P197H NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 8 GAAGATCTCCCCAATAACATG 0.468000 0 SO:0001583 missense ENST00000326303.4 0 1 hg19 CCDS9817.1 . . . . . . . . . . C 17.07 3.295226 0.60086 . . ENSG00000177465 ENST00000326303 T 0.50277 0.75 5.15 5.15 0.70609 . 0.053368 0.85682 D 0.000000 T 0.76564 0.4005 H 0.95043 3.615 0.58432 D 0.999999 D 0.89917 1.0 D 0.80764 0.994 D 0.83418 0.0031 10 0.87932 D 0 -8.5859 13.022 0.58794 0.0:0.9195:0.0:0.0805 . 197 Q8N9L9 ACOT4_HUMAN H 197 ENSP00000323071:P197H ENSP00000323071:P197H P + 2 0 ACOT4 73130291 0.997000 0.39634 0.887000 0.34795 0.487000 0.33371 4.982000 0.63825 2.394000 0.81467 0.491000 0.48974 CCC TCGA-HZ-A77Q-01A-11D-A36O-08 ACOT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404298.2 0 0 0 10 781 0 210 0 3.010205e-03 0 6 0 210 2 0 0 0 0 0 2 1 0.996559 10 765 0 208 2 0 0 0 0 210 2 -1.976808 0 1 0 0 1 0 1 1 2.017727 0 0.230000 1.890000 0.226442 0.110000 0.050000 0.190000 0.110000 0.119550 0.110000 0 7.000000e-02 1.500000e-01 NRXN3 9369 broad.mit.edu 37 14 79434626 79434626 + Missense_Mutation SNP C C T rs140301017 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr14:79434626C>T ENST00000554719.1 + 11 2451 c.1960C>T c.(1960-1962)Cgc>Tgc p.R654C NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 104 Renal(4;0.00876) CTTGAATGGACGCCTGCCAGA 0.522000 0 SO:0001583 missense ENST00000554719.1 1 1 hg19 CCDS9870.1 . . . . . . . . . . C 35 5.587372 0.96590 0.0 1.16E-4 ENSG00000021645 ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750 T;T 0.76968 -1.06;-1.06 6.03 6.03 0.97812 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.85682 D 0.000000 D 0.88987 0.6587 . . . 0.80722 D 1 D;P 0.89917 1.0;0.813 D;B 0.91635 0.999;0.076 D 0.87571 0.2478 8 . . . . 20.5666 0.99351 0.0:1.0:0.0:0.0 . 1027;654 Q9Y4C0;Q9Y4C0-3 NRX3A_HUMAN;. C 1027;1016;654;654 ENSP00000451648:R654C;ENSP00000338349:R654C . R + 1 0 NRXN3 78504379 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 7.818000 0.86416 2.854000 0.98071 0.655000 0.94253 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413787.1 1 0 1 43 300 0 82 0 0 0 0 82 2 0 0 0 0 0 2 1 1.000000 43 296 0 82 2 0 0 0 0 82 2 -18.250690 1 0 121412 3 39 1 0 1 1 2.017727 0 0.230000 1.890000 0.226442 0.990000 0.800000 1.000000 1.000000 0.975621 0.990000 1 9.300000e-01 1 OCA2 4948 broad.mit.edu 37 15 28263683 28263683 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:28263683C>T ENST00000354638.3 - 7 822 c.667G>A c.(667-669)Gtg>Atg p.V223M OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) GTGGAGTCCACGTGGCTGCTA 0.652000 Oculocutaneous Albinism 0 SO:0001583 missense Familial Cancer Database ENST00000354638.3 1 1 hg19 CCDS10020.1 . . . . . . . . . . C 4.620 0.115289 0.08831 . . ENSG00000104044 ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101 T;T;T;T 0.63096 -0.02;-0.02;-0.02;-0.02 5.54 -10.1 0.00402 . 2.689910 0.01503 N 0.017593 T 0.31857 0.0810 N 0.08118 0 0.09310 N 1 B;B 0.13145 0.005;0.007 B;B 0.15484 0.013;0.006 T 0.27054 -1.0085 10 0.33940 T 0.23 4.2318 0.9888 0.01452 0.1922:0.1624:0.2845:0.3609 . 223;223 Q04671-2;Q04671 .;P_HUMAN M 223 ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M ENSP00000261276:V223M V - 1 0 OCA2 25937278 0.000000 0.05858 0.000000 0.03702 0.023000 0.10783 -1.018000 0.03626 -2.789000 0.00357 -0.794000 0.03295 GTG TCGA-HZ-A77Q-01A-11D-A36O-08 OCA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250823.1 1 0 1 17 94 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 0.999977 17 93 0 27 2 0 0 0 0 27 2 -20.000000 1 0 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.990000 0.820000 1.000000 1.000000 0.988047 0.990000 1 9.900000e-01 1 HERC2 8924 broad.mit.edu 37 15 28478313 28478313 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:28478313G>T ENST00000261609.7 - 30 4762 c.4654C>A c.(4654-4656)Cga>Aga p.R1552R NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) CTTCGTTCTCGAATTATCTTT 0.383000 0 SO:0001819 synonymous_variant ENST00000261609.7 0 1 hg19 CCDS10021.1 TCGA-HZ-A77Q-01A-11D-A36O-08 HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251358.2 0 0 0 15 637 0 163 0 2.005722e-02 0 9 0 163 2 0 0 0 0 0 2 1 0.999811 15 604 0 163 2 0 0 0 0 163 2 -2.936309 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.200000 0.110000 0.340000 0.200000 0.219862 0.200000 0 1.500000e-01 2.700000e-01 SLC27A2 11001 broad.mit.edu 37 15 50497538 50497538 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:50497538G>T ENST00000267842.5 + 4 1182 c.950G>T c.(949-951)cGg>cTg p.R317L SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 25 all_lung(180;0.00177) GAACTGCTTCGGTATTTATGC 0.433000 0 SO:0001583 missense ENST00000267842.5 0 1 hg19 CCDS10133.1 . . . . . . . . . . G 20.3 3.964749 0.74131 . . ENSG00000140284 ENST00000380902;ENST00000267842;ENST00000544960 T;T;T 0.52754 0.65;0.88;0.88 5.28 3.43 0.39272 AMP-dependent synthetase/ligase (1); 0.114447 0.64402 D 0.000011 T 0.77611 0.4156 H 0.97940 4.11 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.85130 0.997;0.989 T 0.81642 -0.0840 10 0.87932 D 0 . 9.6524 0.39906 0.167:0.0:0.833:0.0 . 264;317 Q6PF09;O14975 .;S27A2_HUMAN L 264;317;82 ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L ENSP00000267842:R317L R + 2 0 SLC27A2 48284830 1.000000 0.71417 1.000000 0.80357 0.821000 0.46438 5.907000 0.69908 0.827000 0.34685 -0.251000 0.11542 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 SLC27A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254539.2 0 0 0 14 625 0 164 0 3.346335e-03 0 4 0 164 2 0 0 0 0 0 2 1 0.999730 13 617 0 163 2 0 0 0 0 164 2 -2.366194 0 1 121412 5 41 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.190000 0.100000 0.330000 0.190000 0.210706 0.190000 0 1.400000e-01 2.600000e-01 MNS1 55329 broad.mit.edu 37 15 56735874 56735874 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:56735874G>T ENST00000260453.3 - 6 1029 c.865C>A c.(865-867)Caa>Aaa p.Q289K TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron NM_018365.2 NP_060835.1 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 20 TCATTTTCTTGAACTTTTGCC 0.348000 0 SO:0001583 missense ENST00000260453.3 0 1 hg19 CCDS10158.1 . . . . . . . . . . G 4.351 0.064587 0.08388 . . ENSG00000138587 ENST00000260453 T 0.08370 3.1 5.44 5.44 0.79542 . 0.324258 0.33364 N 0.004991 T 0.06600 0.0169 L 0.31065 0.9 0.22305 N 0.999212 B 0.06786 0.001 B 0.13407 0.009 T 0.37753 -0.9692 10 0.05833 T 0.94 -8.4625 14.7812 0.69769 0.0:0.0:0.8554:0.1446 . 289 Q8NEH6 MNS1_HUMAN K 289 ENSP00000260453:Q289K ENSP00000260453:Q289K Q - 1 0 MNS1 54523166 1.000000 0.71417 0.998000 0.56505 0.966000 0.64601 3.786000 0.55431 2.529000 0.85273 0.637000 0.83480 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 MNS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255047.2 0 0 0 10 598 1 141 0 9.109130e-03 0 8 1 141 2 0 0 0 0 0 2 0 0.152594 10 591 1 140 16 0 0 0 1 141 2 -2.676535 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.140000 0.070000 0.270000 0.140000 0.164575 0.140000 0 1.000000e-01 2.000000e-01 CGNL1 84952 broad.mit.edu 37 15 57731336 57731336 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:57731336C>A ENST00000281282.5 + 2 1217 c.1139C>A c.(1138-1140)aCa>aAa p.T380K NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 60 AGAATTAATACAGATGACAGG 0.443000 0 SO:0001583 missense ENST00000281282.5 0 1 hg19 CCDS10161.1 . . . . . . . . . . C 10.34 1.322702 0.23994 . . ENSG00000128849 ENST00000281282 T 0.40476 1.03 5.79 4.88 0.63580 . 0.129534 0.35646 N 0.003062 T 0.23806 0.0576 N 0.03608 -0.345 0.21105 N 0.99979 B 0.02656 0.0 B 0.01281 0.0 T 0.27468 -1.0073 10 0.87932 D 0 -8.9807 14.9253 0.70871 0.0:0.9316:0.0:0.0684 . 380 Q0VF96 CGNL1_HUMAN K 380 ENSP00000281282:T380K ENSP00000281282:T380K T + 2 0 CGNL1 55518628 0.941000 0.31946 0.006000 0.13384 0.196000 0.23810 3.113000 0.50376 1.448000 0.47680 0.655000 0.94253 ACA TCGA-HZ-A77Q-01A-11D-A36O-08 CGNL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255482.2 0 0 0 8 350 0 97 0 1.717437e-02 0 8 0 97 2 0 0 0 0 0 2 1 0.988945 8 345 0 96 2 0 0 0 0 97 2 -2.696811 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.200000 0.090000 0.400000 0.200000 0.223560 0.200000 0 1.400000e-01 2.900000e-01 MYO9A 4649 broad.mit.edu 37 15 72191285 72191285 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:72191285G>T ENST00000356056.5 - 25 4031 c.3559C>A c.(3559-3561)Cag>Aag p.Q1187K MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 88 TCTGAACCCTGAATTTCCAGA 0.358000 0 SO:0001583 missense ENST00000356056.5 0 1 hg19 CCDS10239.1 . . . . . . . . . . G 8.135 0.783992 0.16189 . . ENSG00000066933 ENST00000356056;ENST00000424560;ENST00000444904 D;D;D 0.82893 -1.65;-1.66;-1.65 4.91 1.66 0.24008 . . . . . T 0.61261 0.2333 N 0.17082 0.46 0.24994 N 0.991511 B;B 0.06786 0.001;0.001 B;B 0.06405 0.002;0.001 T 0.50947 -0.8767 9 0.02654 T 1 . 3.1569 0.06508 0.0942:0.1287:0.5011:0.276 . 1168;1187 B2RTY4-2;B2RTY4 .;MYO9A_HUMAN K 1187;1187;1168 ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K ENSP00000348349:Q1187K Q - 1 0 MYO9A 69978339 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 2.069000 0.41481 1.044000 0.40200 0.585000 0.79938 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 MYO9A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257308.1 0 0 0 12 1109 0 233 0 4.271997e-04 0 3 0 233 2 0 0 0 0 0 2 1 0.999020 12 1092 0 230 2 0 0 0 0 233 2 -2.287399 0 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.090000 0.040000 0.170000 0.100000 0.109402 0.090000 0 6.000000e-02 1.300000e-01 BNC1 646 broad.mit.edu 37 15 83926420 83926420 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:83926420G>A ENST00000345382.2 - 5 2844 c.2759C>T c.(2758-2760)gCt>gTt p.A920V BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 56 AGGCAGGCTAGCAAGGCTCTG 0.537000 0 SO:0001583 missense ENST00000345382.2 1 1 hg19 CCDS10324.1 . . . . . . . . . . G 11.04 1.520519 0.27211 . . ENSG00000169594 ENST00000345382;ENST00000541809 T 0.44083 0.93 5.93 4.99 0.66335 . 0.467668 0.23420 N 0.048377 T 0.23330 0.0564 N 0.22421 0.69 0.09310 N 0.999994 B;P 0.39282 0.4;0.666 B;B 0.30029 0.11;0.102 T 0.09885 -1.0654 10 0.19147 T 0.46 -21.1832 10.7119 0.45988 0.0757:0.1342:0.7901:0.0 . 913;920 F5GY04;Q01954 .;BNC1_HUMAN V 920;913 ENSP00000307041:A920V ENSP00000307041:A920V A - 2 0 BNC1 81717424 0.623000 0.27094 0.936000 0.37596 0.710000 0.40934 1.984000 0.40658 1.454000 0.47793 0.557000 0.71058 GCT TCGA-HZ-A77Q-01A-11D-A36O-08 BNC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000304006.1 1 0 0 76 816 0 236 0 0 0 1 0 236 2 0 0 0 0 0 2 1 1.000000 75 803 0 235 2 0 0 0 0 236 2 -18.308170 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.740000 0.590000 0.930000 0.740000 0.750299 0.740000 0 6.600000e-01 8.300000e-01 SEC11A 23478 broad.mit.edu 37 15 85224008 85224008 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:85224008G>T ENST00000268220.7 - 4 1007 c.367C>A c.(367-369)Cga>Aga p.R123R SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R NM_014300.2 NP_055115.1 P67812 SC11A_HUMAN SEC11 homolog A (S. cerevisiae) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) TAGAGGCCTCGGTCATCAACC 0.408000 0 SO:0001819 synonymous_variant ENST00000268220.7 0 1 hg19 CCDS45340.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SEC11A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418777.1 0 0 0 10 750 1 187 0 1.435570e-01 0 433 1 187 10 0 0 0 0 0 2 0 0.192277 9 735 1 186 15 0 0 0 1 187 2 -1.763214 0 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.110000 0.050000 0.220000 0.120000 0.133834 0.110000 0 8.000000e-02 1.600000e-01 PDE8A 5151 broad.mit.edu 37 15 85607643 85607643 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:85607643C>A ENST00000310298.4 + 3 481 c.229C>A c.(229-231)Caa>Aaa p.Q77K PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K O60658 PDE8A_HUMAN phosphodiesterase 8A 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) Caffeine(DB00201)|Ketotifen(DB00920) GAGATTTCATCAAGATCAACT 0.363000 0 SO:0001583 missense ENST00000310298.4 0 1 hg19 CCDS10336.1 . . . . . . . . . . C 12.83 2.056234 0.36277 . . ENSG00000073417 ENST00000310298;ENST00000394553;ENST00000339708 T;T;T 0.70631 -0.5;-0.5;-0.46 5.65 4.73 0.59995 . 0.201377 0.43579 D 0.000552 T 0.58680 0.2139 L 0.29908 0.895 0.37679 D 0.92342 B;B 0.12013 0.005;0.0 B;B 0.12156 0.007;0.001 T 0.56817 -0.7916 10 0.23891 T 0.37 . 14.3705 0.66836 0.0:0.8508:0.1492:0.0 . 77;77 O60658-2;O60658 .;PDE8A_HUMAN K 77 ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K ENSP00000311453:Q77K Q + 1 0 PDE8A 83408647 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 2.930000 0.48924 1.368000 0.46115 0.511000 0.50034 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 PDE8A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000309018.1 0 0 0 8 439 0 85 0 1.761075e-02 0 10 0 85 2 0 0 0 0 0 2 1 0.988906 8 433 0 85 2 0 0 0 0 85 2 -3.026299 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.160000 0.070000 0.320000 0.160000 0.181504 0.160000 0 1.100000e-01 2.300000e-01 AKAP13 11214 broad.mit.edu 37 15 86128981 86128981 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:86128981C>A ENST00000394518.2 + 8 4183 c.4088C>A c.(4087-4089)tCa>tAa p.S1363* AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363* NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 98 AGAGCAAGTTCAATTTCTGAA 0.448000 Melanoma(94;603 1453 3280 32295 32951) 0 SO:0001587 stop_gained ENST00000394518.2 0 1 hg19 CCDS32319.1 . . . . . . . . . . C 42 9.723090 0.99248 . . ENSG00000170776 ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540 . . . 5.77 3.9 0.45041 . . . . . . . . . . . 0.18873 N 0.999985 . . . . . . . . . . 0.02654 T 1 . 8.9761 0.35937 0.0:0.8295:0.0:0.1705 . . . . X 1363;1363;1362;1362 . ENSP00000354718:S1363X S + 2 0 AKAP13 83929985 0.001000 0.12720 0.003000 0.11579 0.539000 0.34962 0.903000 0.28475 0.796000 0.33947 0.591000 0.81541 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 AKAP13-004 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000417318.1 0 0 0 9 380 0 98 0 1.719001e-01 0 29 0 98 2 0 0 0 0 0 2 1 0.993929 8 375 0 97 2 0 0 0 0 98 2 -3.651328 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.210000 0.100000 0.390000 0.200000 0.228642 0.210000 0 1.400000e-01 2.900000e-01 FANCI 55215 broad.mit.edu 37 15 89828362 89828362 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:89828362C>A ENST00000310775.7 + 18 1820 c.1734C>A c.(1732-1734)gtC>gtA p.V578V FANCI_ENST00000300027.8_Silent_p.V578V NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 31 Lung NSC(78;0.0472)|all_lung(78;0.089) ACAATTCTGTCGCCAATGAAA 0.423000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 0 SO:0001819 synonymous_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) ENST00000310775.7 0 1 hg19 CCDS45346.1 TCGA-HZ-A77Q-01A-11D-A36O-08 FANCI-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421140.1 0 0 0 11 661 0 173 0 6.662564e-03 0 7 0 173 2 0 0 0 0 0 2 1 0.998204 10 653 0 171 2 0 0 0 0 173 2 -2.451680 0 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.140000 0.070000 0.270000 0.140000 0.162692 0.140000 0 1.000000e-01 2.000000e-01 BLM 641 broad.mit.edu 37 15 91306341 91306341 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr15:91306341C>A ENST00000355112.3 + 8 2146 c.2028C>A c.(2026-2028)atC>atA p.I676I BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAGAGGCGATCAATGCTGCAC 0.363000 Mis, N, F leukemia, lymphoma, skin squamous cell , other cancers Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome yes Rec Bloom Syndrome 15 15q26.1 641 Bloom Syndrome L, E 0 SO:0001819 synonymous_variant Familial Cancer Database ENST00000355112.3 0 1 hg19 CCDS10363.1 TCGA-HZ-A77Q-01A-11D-A36O-08 BLM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313495.1 0 0 0 13 707 0 171 0 0 0 1 0 171 2 0 0 0 0 0 2 1 0.999465 12 693 0 169 2 0 0 0 0 171 2 -2.536566 1 1 0 0 1 1 2 3 2.030134 0 0.230000 1.890000 0.231767 0.160000 0.080000 0.280000 0.160000 0.176371 0.160000 0 1.100000e-01 2.100000e-01 SSTR5 6755 broad.mit.edu 37 16 1129733 1129733 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:1129733G>A ENST00000293897.4 + 1 953 c.865G>A c.(865-867)Gtg>Atg p.V289M SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 9 Hepatocellular(780;0.00369) Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894) CTACTTCTTCGTGGTCATCCT 0.622000 0 SO:0001583 missense ENST00000293897.4 1 1 hg19 CCDS10429.1 . . . . . . . . . . G 14.44 2.534704 0.45073 . . ENSG00000162009 ENST00000397547;ENST00000293897 T;T 0.72505 -0.66;-0.66 4.76 4.76 0.60689 GPCR, rhodopsin-like superfamily (1); 0.381500 0.26654 N 0.023198 T 0.77974 0.4211 M 0.82323 2.585 0.42578 D 0.993203 D 0.53619 0.961 P 0.50162 0.633 T 0.81911 -0.0716 10 0.59425 D 0.04 . 12.2855 0.54789 0.0858:0.0:0.9142:0.0 . 289 P35346 SSR5_HUMAN M 289 ENSP00000380680:V289M;ENSP00000293897:V289M ENSP00000293897:V289M V + 1 0 SSTR5 1069734 1.000000 0.71417 0.922000 0.36590 0.009000 0.06853 4.534000 0.60622 2.202000 0.70862 0.561000 0.74099 GTG TCGA-HZ-A77Q-01A-11D-A36O-08 SSTR5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000420836.1 1 0 1 33 168 0 70 0 2.873563e-02 1 1 0 70 2 0 0 0 0 0 2 1 1.000000 32 163 0 69 2 0 0 0 0 70 2 -20.000000 1 1 120854 1 32 1 0 1 1 2.023051 0 0.230000 1.890000 0.228225 0.990000 0.990000 1.000000 1.000000 0.998755 0.990000 1 9.900000e-01 1 RSL1D1 26156 broad.mit.edu 37 16 11933615 11933615 + Silent SNP G G T rs144452977 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:11933615G>T ENST00000571133.1 - 8 1155 c.1083C>A c.(1081-1083)tcC>tcA p.S361S RSL1D1_ENST00000542106.1_Silent_p.S141S NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 15 TTTCGTCTTCGGATTCATTTG 0.398000 0 SO:0001819 synonymous_variant ENST00000571133.1 0 1 hg19 CCDS10551.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RSL1D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252059.2 0 0 0 10 806 0 230 0 9.122852e-01 0 345 0 230 2 0 0 0 0 0 2 1 0.996524 10 788 0 227 2 0 0 0 0 230 2 -1.921123 0 1 0 0 1 0 1 1 2.023051 0 0.230000 1.890000 0.228225 0.100000 0.050000 0.190000 0.100000 0.116180 0.100000 0 7.000000e-02 1.500000e-01 KIAA0430 9665 broad.mit.edu 37 16 15719310 15719310 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:15719310G>T ENST00000396368.3 - 8 2078 c.1872C>A c.(1870-1872)tcC>tcA p.S624S KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000551742.1_Silent_p.S623S NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 MARF1_HUMAN KIAA0430 40 CTTTGGCACTGGAAGATTGTT 0.368000 0 SO:0001819 synonymous_variant ENST00000396368.3 0 1 hg19 CCDS10562.2 TCGA-HZ-A77Q-01A-11D-A36O-08 KIAA0430-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252131.2 0 0 0 8 604 0 144 0 1.174684e-02 0 11 0 144 2 0 0 0 0 0 2 1 0.988854 8 597 0 144 2 0 0 0 0 144 2 -2.278812 0 1 0 0 1 0 1 1 2.023051 0 0.230000 1.890000 0.228225 0.110000 0.050000 0.210000 0.120000 0.126464 0.110000 0 7.000000e-02 1.700000e-01 ZNF200 7752 broad.mit.edu 37 16 3274343 3274343 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:3274343C>A ENST00000431561.3 - 5 1349 c.737G>T c.(736-738)cGg>cTg p.R246L AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 17 CCTTGTCCTCCGATTTCGAGT 0.413000 0 SO:0001583 missense ENST00000431561.3 0 1 hg19 CCDS10497.1 . . . . . . . . . . C 7.491 0.650617 0.14516 . . ENSG00000010539 ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561 T;T;T;T 0.07216 3.21;3.24;3.25;3.31 5.17 2.19 0.27852 . 0.401360 0.18508 N 0.139141 T 0.06188 0.0160 L 0.27053 0.805 0.09310 N 1 B;B;B 0.31485 0.218;0.218;0.325 B;B;B 0.32724 0.072;0.072;0.151 T 0.31392 -0.9945 10 0.66056 D 0.02 -20.7119 6.6597 0.23007 0.0:0.631:0.0:0.369 . 245;246;245 D3DUB7;P98182;P98182-2 .;ZN200_HUMAN;. L 246;245;245;245;246 ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L ENSP00000380077:R245L R - 2 0 ZNF200 3214344 0.037000 0.19845 0.016000 0.15963 0.707000 0.40811 0.023000 0.13533 0.348000 0.23949 0.455000 0.32223 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF200-005 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000437545.1 0 0 0 7 561 0 141 0 1.752641e-02 0 14 0 141 2 0 0 0 0 0 2 1 0.979577 7 552 0 141 2 0 0 0 0 141 2 -2.287943 0 1 0 0 1 0 1 1 2.023051 0 0.230000 1.890000 0.228225 0.110000 0.040000 0.210000 0.110000 0.121039 0.110000 0 7.000000e-02 1.600000e-01 RPGRIP1L 23322 broad.mit.edu 37 16 53730088 53730088 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:53730088G>T ENST00000379925.3 - 3 255 c.205C>A c.(205-207)Cgc>Agc p.R69S RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S NM_015272.2 NP_056087.2 Q68CZ1 FTM_HUMAN RPGRIP1-like p.R69C(1) 46 all_cancers(37;0.0973) TCCTGCTTGCGGGCATGCTGT 0.368000 1 Substitution - Missense(1) SO:0001583 missense ENST00000379925.3 0 1 hg19 CCDS32447.1 . . . . . . . . . . G 6.569 0.473342 0.12461 . . ENSG00000103494 ENST00000379925;ENST00000262135 D;D 0.87887 -2.31;-2.31 5.73 0.185 0.15096 . 0.439409 0.24615 N 0.037005 T 0.78329 0.4266 L 0.48642 1.525 0.25924 N 0.983084 B;B;B;B 0.18310 0.005;0.007;0.027;0.01 B;B;B;B 0.15052 0.005;0.011;0.011;0.012 T 0.62765 -0.6785 10 0.27082 T 0.32 -0.0133 6.443 0.21861 0.2592:0.0:0.553:0.1878 . 69;69;69;69 B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2 .;.;FTM_HUMAN;. S 69 ENSP00000369257:R69S;ENSP00000262135:R69S ENSP00000262135:R69S R - 1 0 RPGRIP1L 52287589 0.994000 0.37717 0.999000 0.59377 0.978000 0.69477 0.921000 0.28718 0.363000 0.24346 -0.244000 0.11960 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 RPGRIP1L-009 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000422187.1 0 0 0 12 875 1 205 0 1.827332e-02 0 14 1 205 2 0 0 0 0 0 2 0 0.265888 11 859 1 205 16 0 0 0 1 205 2 -1.683075 0 1 0 0 1 0 1 1 2.023051 0 0.230000 1.890000 0.228225 0.110000 0.060000 0.200000 0.120000 0.126380 0.110000 0 8.000000e-02 1.600000e-01 CLEC18B 497190 broad.mit.edu 37 16 74443519 74443519 + Missense_Mutation SNP A A T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:74443519A>T ENST00000339953.5 - 12 1380 c.1259T>A c.(1258-1260)cTg>cAg p.L420Q NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 27 TGAAGCCTGCAGCTCCACGCA 0.597000 0 SO:0001583 missense ENST00000339953.5 0 1 hg19 CCDS32484.1 . . . . . . . . . . a 16.96 3.265272 0.59431 . . ENSG00000140839 ENST00000429489;ENST00000339953 T 0.60040 0.22 3.64 3.64 0.41730 C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3); 0.101710 0.40908 D 0.000981 T 0.70133 0.3189 M 0.76727 2.345 0.29629 N 0.845598 D;D 0.64830 0.994;0.994 D;D 0.65323 0.934;0.913 T 0.67511 -0.5652 10 0.87932 D 0 . 8.5986 0.33732 1.0:0.0:0.0:0.0 . 411;420 C9JSV1;Q6UXF7 .;CL18B_HUMAN Q 411;420 ENSP00000341051:L420Q ENSP00000341051:L420Q L - 2 0 CLEC18B 73001020 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 7.380000 0.79704 1.519000 0.48950 0.352000 0.21897 CTG TCGA-HZ-A77Q-01A-11D-A36O-08 CLEC18B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434697.1 0 0 0 20 361 0 121 0 0 0 0 121 2 0 0 0 0 0 2 1 0.999992 19 339 0 155 2 0 0 0 0 121 2 -19.991740 1 1 0 0 1 0 1 1 2.015849 0 0.230000 1.890000 0.226442 0.450000 0.280000 0.670000 0.450000 0.470347 0.450000 0 3.600000e-01 5.700000e-01 SDR42E1 93517 broad.mit.edu 37 16 82033377 82033377 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr16:82033377C>T ENST00000328945.5 - 3 648 c.521G>A c.(520-522)gGc>gAc p.G174D SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 10 GACACCGTCGCCTCTGTCCAG 0.557000 0 SO:0001583 missense ENST00000328945.5 1 1 hg19 CCDS42205.1 . . . . . . . . . . C 8.554 0.876151 0.17395 . . ENSG00000184860 ENST00000328945;ENST00000532128 D;D 0.86297 -2.1;-2.1 5.76 4.81 0.61882 3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1); 0.402695 0.32459 N 0.006073 D 0.83695 0.5310 L 0.58510 1.815 0.09310 N 0.999999 B 0.12630 0.006 B 0.18263 0.021 T 0.73616 -0.3926 10 0.41790 T 0.15 -2.9917 10.2802 0.43534 0.0:0.8505:0.0:0.1495 . 174 Q8WUS8 D42E1_HUMAN D 174;171 ENSP00000332407:G174D;ENSP00000434529:G171D ENSP00000332407:G174D G - 2 0 SDR42E1 80590878 0.002000 0.14202 0.002000 0.10522 0.006000 0.05464 1.918000 0.40006 1.431000 0.47355 0.655000 0.94253 GGC TCGA-HZ-A77Q-01A-11D-A36O-08 SDR42E1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388081.2 1 0 0 30 517 0 143 1 7.210051e-02 3 5 0 143 2 0 0 0 0 0 2 1 1.000000 29 508 0 140 2 0 0 0 0 143 2 -20.000000 1 1 120994 6 40 1 0 1 1 2.015849 0 0.230000 1.890000 0.226442 0.470000 0.320000 0.650000 0.470000 0.485706 0.470000 0 3.900000e-01 5.700000e-01 MAP2K4 6416 broad.mit.edu 37 17 12013744 12013744 + Splice_Site SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:12013744G>T ENST00000353533.5 + 6 748 c.e6+1 MAP2K4_ENST00000581941.1_Splice_Site|MAP2K4_ENST00000415385.3_Splice_Site NM_003010.2 NP_003001.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 p.0?(10)|p.?(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) ATTCACAGAGGTGGGTATGGA 0.308000 D, Mis, N pancreatic, breast, colorectal Rec yes 17 17p11.2 6416 mitogen-activated protein kinase kinase 4 E 11 Whole gene deletion(10)|Unknown(1) SO:0001630 splice_region_variant ENST00000353533.5 1 1 hg19 CCDS11162.1 . . . . . . . . . . G 23.0 4.366763 0.82463 . . ENSG00000065559 ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413 . . . 5.32 5.32 0.75619 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.1455 0.89653 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MAP2K4 11954469 1.000000 0.71417 1.000000 0.80357 0.907000 0.53573 9.110000 0.94302 2.639000 0.89480 0.557000 0.71058 . TCGA-HZ-A77Q-01A-11D-A36O-08 MAP2K4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000441226.1 1 0 0 47 403 0 99 0 0 1 0 0 99 2 1 1 58 535 0 543 2 1 1.000000 47 399 0 99 2 0 0 0 0 99 2 -20.000000 1 0 0 0 1 0 1 1 1.796019 1 0.230000 1.890000 0.129944 0.780000 0.590000 0.970000 0.790000 0.793958 0.780000 0 6.800000e-01 9.000000e-01 WSB1 26118 broad.mit.edu 37 17 25628876 25628876 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:25628876C>A ENST00000262394.2 + 2 419 c.103C>A c.(103-105)Cgt>Agt p.R35S WSB1_ENST00000348811.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) GAAATGTGGTCGTGAAAATTG 0.398000 0 SO:0001583 missense ENST00000262394.2 0 1 hg19 CCDS11220.1 . . . . . . . . . . C 13.88 2.368309 0.42003 . . ENSG00000109046 ENST00000262394 T 0.43294 0.95 5.95 3.89 0.44902 . 0.455607 0.22917 N 0.054078 T 0.32133 0.0819 N 0.20986 0.625 0.80722 D 1 B;B 0.19073 0.004;0.033 B;B 0.19946 0.004;0.027 T 0.04635 -1.0937 10 0.42905 T 0.14 -15.6797 15.5864 0.76485 0.0:0.7304:0.2696:0.0 . 35;35 B4DTL1;Q9Y6I7 .;WSB1_HUMAN S 35 ENSP00000262394:R35S ENSP00000262394:R35S R + 1 0 WSB1 22653003 0.986000 0.35501 1.000000 0.80357 0.984000 0.73092 1.896000 0.39789 0.792000 0.33850 0.655000 0.94253 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 WSB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255391.4 0 0 0 13 862 0 230 0 1.470806e-01 0 42 0 230 2 0 0 0 0 0 2 0 0.479377 11 848 1 229 14 0 0 0 0 230 2 -2.173954 0 1 0 0 1 0.230000 1.890000 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708223 36708223 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:36708223C>T ENST00000264659.7 - 14 2850 c.2626G>A c.(2626-2628)Ggg>Agg p.G876R SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 19 TCAGCTGGCCCGCTCAGCTCA 0.602000 0 SO:0001583 missense ENST00000264659.7 1 1 hg19 CCDS45660.1 . . . . . . . . . . C 17.53 3.413836 0.62511 . . ENSG00000017373 ENST00000264659;ENST00000542707;ENST00000398579 T 0.46451 0.87 4.69 4.69 0.59074 . 0.232419 0.43260 D 0.000583 T 0.52403 0.1732 L 0.43152 1.355 0.58432 D 0.999997 D;D;D;D 0.76494 0.999;0.993;0.993;0.993 P;P;P;P 0.58266 0.836;0.677;0.677;0.677 T 0.52132 -0.8616 10 0.51188 T 0.08 -29.8471 16.9082 0.86133 0.0:1.0:0.0:0.0 . 182;748;748;876 Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5 .;.;SRCN1_HUMAN;. R 876;657;730 ENSP00000264659:G876R ENSP00000264659:G876R G - 1 0 SRCIN1 33961749 0.740000 0.28207 0.745000 0.31077 0.073000 0.16967 2.370000 0.44240 2.606000 0.88127 0.561000 0.74099 GGG TCGA-HZ-A77Q-01A-11D-A36O-08 SRCIN1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000441878.4 1 0 1 32 231 0 81 1 7.911057e-02 2 2 0 81 2 0 0 0 0 0 2 1 1.000000 31 227 0 75 2 0 0 0 0 81 2 -2.559342 1 1 120836 3 37 1 1 2 3 2.035258 0 0.230000 1.890000 0.233526 0.990000 0.750000 1.000000 1.000000 0.963773 0.990000 1 8.900000e-01 1 KRT24 192666 broad.mit.edu 37 17 38857542 38857542 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:38857542C>T ENST00000264651.2 - 3 761 c.705G>A c.(703-705)gaG>gaA p.E235E NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 29 Breast(137;0.00526) ACAGCTCGTTCTCATACCTGG 0.512000 GBM(61;380 1051 14702 23642 31441) 0 SO:0001819 synonymous_variant ENST00000264651.2 1 1 hg19 CCDS11372.1 TCGA-HZ-A77Q-01A-11D-A36O-08 KRT24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257217.1 1 0 0 19 143 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 0.999992 18 140 0 25 2 0 0 0 0 26 2 -3.320285 1 1 0 0 1 1 2 3 2.035258 0 0.230000 1.890000 0.233526 0.990000 0.650000 1.000000 1.000000 0.936532 0.990000 1 8.200000e-01 1 KRT33B 3884 broad.mit.edu 37 17 39521158 39521158 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:39521158G>T ENST00000251646.3 - 6 1019 c.970C>A c.(970-972)Cag>Aag p.Q324K NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 21 Breast(137;0.000496) TCCGCCAGCTGGGACTCCACG 0.617000 0 SO:0001583 missense ENST00000251646.3 0 1 hg19 CCDS11389.1 . . . . . . . . . . g 17.10 3.304063 0.60305 . . ENSG00000131738 ENST00000251646 D 0.89196 -2.48 4.29 4.29 0.51040 Filament (1); 0.000000 0.64402 D 0.000010 D 0.95544 0.8552 H 0.97023 3.925 0.32020 N 0.600921 D 0.55172 0.97 P 0.59012 0.85 D 0.95999 0.8992 10 0.87932 D 0 . 14.3715 0.66843 0.0:0.1494:0.8506:0.0 . 324 Q14525 KT33B_HUMAN K 324 ENSP00000251646:Q324K ENSP00000251646:Q324K Q - 1 0 KRT33B 36774684 0.605000 0.26941 0.960000 0.40013 0.526000 0.34562 0.833000 0.27504 2.666000 0.90696 0.650000 0.86243 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 KRT33B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257292.1 0 0 0 16 293 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 0.999838 15 258 0 114 2 0 0 0 0 96 2 -3.219557 1 1 0 0 1 0 1 1 2.025332 0 0.230000 1.890000 0.228225 0.450000 0.270000 0.690000 0.450000 0.469055 0.450000 0 3.500000e-01 5.700000e-01 NBR1 4077 broad.mit.edu 37 17 41341806 41341806 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:41341806C>A ENST00000422280.1 + 8 1141 c.682C>A c.(682-684)Cgc>Agc p.R228S NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 24 Breast(137;0.00086) TGTTGGTGTCCGCTACCAGTG 0.438000 0 SO:0001583 missense ENST00000422280.1 0 1 hg19 CCDS45694.1 . . . . . . . . . . C 19.06 3.752959 0.69648 . . ENSG00000188554 ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311 D;D;D;D 0.96459 -4.02;-4.02;-4.02;-4.02 5.96 5.96 0.96718 Zinc finger, ZZ-type (4); 0.054076 0.85682 D 0.000000 D 0.98893 0.9625 H 0.95850 3.73 0.50632 D 0.999887 D;D;D 0.89917 1.0;0.996;1.0 D;D;D 0.97110 1.0;0.967;1.0 D 0.98914 1.0781 10 0.62326 D 0.03 -12.2893 20.422 0.99049 0.0:1.0:0.0:0.0 . 207;228;228 B7Z5R6;Q14596-2;Q14596 .;.;NBR1_HUMAN S 228;207;228;228;228 ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S ENSP00000343479:R228S R + 1 0 NBR1 38595332 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 4.607000 0.61133 2.832000 0.97577 0.655000 0.94253 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 NBR1-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000453461.1 0 0 0 9 607 0 151 0 2.246973e-01 0 55 0 151 2 0 0 0 0 0 2 1 0.993685 9 594 0 148 2 0 0 0 0 151 2 -1.844675 0 1 0 0 1 0 1 1 2.025332 0 0.230000 1.890000 0.228225 0.120000 0.060000 0.230000 0.120000 0.139612 0.120000 0 9.000000e-02 1.800000e-01 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:7577539G>A ENST00000269305.4 - 7 931 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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 617 Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2) GRCh37 CM010465|CM900211 TP53 M rs121912651 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 . . . . . . . . . . G 18.84 3.710019 0.68730 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 D;D;D;D;D;D;D;D 0.99869 -7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34 4.62 2.56 0.30785 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 0.99843 0.9928 M 0.92507 3.315 0.58432 A 0.999997 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0;1.0 D 0.97208 0.9869 9 0.87932 D 0 -9.5643 7.568 0.27890 0.0893:0.0:0.7471:0.1636 . 248;248;155;248;248;248 P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;P53_HUMAN;.;. W 248;248;248;248;248;248;237;155;116;155 ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W ENSP00000269305:R248W R - 1 2 TP53 7518264 1.000000 0.71417 1.000000 0.80357 0.910000 0.53928 1.447000 0.35101 0.644000 0.30656 0.462000 0.41574 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 38 188 0 75 1 9.992211e-01 11 46 0 75 2 1 1 107 873 0 816 2 1 1.000000 37 183 0 75 2 0 0 0 0 75 2 -2.656564 1 1 121412 1 37 1 0 1 1 1.796019 1 0.230000 1.890000 0.129944 0.940000 0.780000 1.000000 0.990000 0.936625 0.940000 1 8.700000e-01 9.900000e-01 RNF213 57674 broad.mit.edu 37 17 78338344 78338344 + Silent SNP A A G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 A G A A Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr17:78338344A>G ENST00000582970.1 + 42 12005 c.11862A>G c.(11860-11862)ttA>ttG p.L3954L CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q63HN8 RN213_HUMAN ring finger protein 213 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACGTCTTCTTACTAGACAAGG 0.582000 0 SO:0001819 synonymous_variant ENST00000582970.1 1 1 hg19 CCDS58606.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RNF213-020 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000443298.1 1 0 0 17 188 0 52 1 8.406251e-01 6 33 0 52 2 1 1 84 483 0 416 2 1 0.999965 17 183 0 52 2 0 0 0 0 52 2 -19.999080 1 1 0 0 1 1 2 3 2.031530 0 0.230000 1.890000 0.233526 0.730000 0.440000 1.000000 1.000000 0.748015 0.730000 0 5.700000e-01 9.300000e-01 EPB41L3 23136 broad.mit.edu 37 18 5424355 5424355 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr18:5424355C>A ENST00000341928.2 - 10 1409 c.1069G>T c.(1069-1071)Gaa>Taa p.E357* EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357* NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 105 TCAAATTGTTCAAACTAAATA 0.323000 0 SO:0001587 stop_gained ENST00000341928.2 0 1 hg19 CCDS11838.1 . . . . . . . . . . C 42 9.258930 0.99117 . . ENSG00000082397 ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111 . . . 6.06 6.06 0.98353 . 0.129804 0.64402 D 0.000001 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.66056 D 0.02 . 20.6186 0.99473 0.0:1.0:0.0:0.0 . . . . X 357;248;357;248;357;357 . ENSP00000343158:E357X E - 1 0 EPB41L3 5414355 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.818000 0.86416 2.876000 0.98609 0.643000 0.83706 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 EPB41L3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254424.1 0 0 0 12 484 0 96 0 3.968520e-01 0 53 0 96 2 0 0 0 0 0 2 1 0.999056 11 478 0 95 2 0 0 0 0 96 2 -2.531925 1 1 0 0 1 0 1 1 1.923824 0 0.230000 1.890000 0.192872 0.200000 0.100000 0.330000 0.200000 0.214734 0.200000 0 1.500000e-01 2.700000e-01 SERPINB12 89777 broad.mit.edu 37 18 61233928 61233928 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr18:61233928G>T ENST00000269491.1 + 7 902 c.902G>T c.(901-903)cGg>cTg p.R301L SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L NM_080474.1 NP_536722.1 Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 26 TCCTTCCCCCGGTTCACCCTG 0.448000 0 SO:0001583 missense ENST00000269491.1 0 1 hg19 CCDS11984.1 . . . . . . . . . . G 13.66 2.304108 0.40795 . . ENSG00000166634 ENST00000269491;ENST00000382768 D;D 0.84223 -1.82;-1.82 5.81 1.97 0.26223 Serpin domain (3); 0.299003 0.29246 N 0.012717 D 0.87111 0.6096 M 0.91872 3.25 0.09310 N 0.999998 P;B 0.37781 0.608;0.182 B;B 0.38655 0.278;0.098 T 0.80381 -0.1406 10 0.87932 D 0 . 10.0287 0.42087 0.5897:0.0:0.4103:0.0 . 321;301 Q3SYB4;Q96P63 .;SPB12_HUMAN L 301;321 ENSP00000269491:R301L;ENSP00000372218:R321L ENSP00000269491:R301L R + 2 0 SERPINB12 59384908 0.000000 0.05858 0.999000 0.59377 0.943000 0.58893 0.120000 0.15647 0.135000 0.18707 -0.290000 0.09829 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 SERPINB12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256197.1 0 0 0 14 786 0 250 0 0 0 0 250 2 0 0 0 0 0 2 1 0.999715 13 772 0 249 2 0 0 0 0 250 2 -1.902544 0 1 0 0 1 0 1 1 1.803354 1 0.230000 1.890000 0.129944 0.130000 0.070000 0.220000 0.130000 0.142723 0.130000 0 1.000000e-01 1.800000e-01 RTTN 25914 broad.mit.edu 37 18 67742608 67742608 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr18:67742608G>T ENST00000255674.6 - 33 4830 c.4544C>A c.(4543-4545)tCa>tAa p.S1515* RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 80 Esophageal squamous(42;0.129) ATTGCTTTCTGAATTTCTATC 0.254000 0 SO:0001587 stop_gained ENST00000255674.6 0 1 hg19 CCDS42443.1 . . . . . . . . . . G 41 8.763837 0.98945 . . ENSG00000176225 ENST00000255674;ENST00000437017 . . . 5.52 3.73 0.42828 . 1.265960 0.05147 N 0.495368 . . . . . . 0.09310 N 1 . . . . . . . . . . 0.02654 T 1 . 11.1648 0.48537 0.2339:0.0:0.7661:0.0 . . . . X 1515 . ENSP00000255674:S1515X S - 2 0 RTTN 65893588 0.407000 0.25352 0.006000 0.13384 0.034000 0.12701 1.450000 0.35134 0.303000 0.22785 -1.164000 0.01763 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 RTTN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442988.1 0 0 0 13 633 0 150 0 4.978073e-04 0 2 0 150 2 0 0 0 0 0 2 1 0.999497 12 627 0 150 2 0 0 0 0 150 2 -2.646924 1 1 0 0 1 0 1 1 1.803354 1 0.230000 1.890000 0.129944 0.150000 0.080000 0.250000 0.150000 0.164537 0.150000 0 1.100000e-01 2.100000e-01 ZNF407 55628 broad.mit.edu 37 18 72347035 72347035 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr18:72347035G>T ENST00000299687.5 + 1 4060 c.4060G>T c.(4060-4062)Ggt>Tgt p.G1354C ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) GTACAGTTTTGGTCGATTTGA 0.423000 0 SO:0001583 missense ENST00000299687.5 0 1 hg19 CCDS45885.1 . . . . . . . . . . G 15.96 2.987151 0.53934 . . ENSG00000215421 ENST00000299687;ENST00000309902 T;T 0.13196 2.61;3.04 5.84 4.06 0.47325 . 0.195350 0.36519 N 0.002550 T 0.20007 0.0481 N 0.19112 0.55 0.32517 N 0.536824 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.83275 0.996;0.993;0.985 T 0.03060 -1.1077 10 0.59425 D 0.04 . 9.7588 0.40519 0.2094:0.0:0.7906:0.0 . 1354;1354;1354 Q9C0G0-3;Q9C0G0-2;Q9C0G0 .;.;ZN407_HUMAN C 1354 ENSP00000299687:G1354C;ENSP00000310359:G1354C ENSP00000299687:G1354C G + 1 0 ZNF407 70476023 0.999000 0.42202 1.000000 0.80357 0.979000 0.70002 1.301000 0.33447 2.754000 0.94517 0.655000 0.94253 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF407-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444903.1 0 0 0 11 551 0 149 0 2.841389e-03 0 4 0 149 2 0 0 0 0 0 2 1 0.998204 11 542 0 147 2 0 0 0 0 149 2 -2.256605 0 1 0 0 1 0 1 1 1.803354 1 0.230000 1.890000 0.129944 0.150000 0.070000 0.250000 0.150000 0.161783 0.150000 0 1.100000e-01 2.100000e-01 TMEM38A 79041 broad.mit.edu 37 19 16799034 16799034 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:16799034C>A ENST00000187762.2 + 6 843 c.752C>A c.(751-753)tCg>tAg p.S251* NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 15 CTGTTTGGTTCGGCCTGCGGG 0.642000 0 SO:0001587 stop_gained ENST00000187762.2 0 1 hg19 CCDS12349.1 . . . . . . . . . . c 13.31 2.198085 0.38806 . . ENSG00000072954 ENST00000187762 . . . 4.12 1.93 0.25924 . 0.520628 0.22109 N 0.064515 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.14656 T 0.56 0.1108 7.7281 0.28771 0.161:0.7511:0.0:0.0879 . . . . X 251 . ENSP00000187762:S251X S + 2 0 TMEM38A 16660034 0.085000 0.21516 0.001000 0.08648 0.069000 0.16628 2.684000 0.46951 0.227000 0.20999 0.462000 0.41574 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 TMEM38A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462841.1 0 0 0 13 963 0 294 0 4.344392e-03 0 7 0 294 2 0 0 0 0 0 2 1 0.999467 13 945 0 288 2 0 0 0 0 294 2 -2.165208 0 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.110000 0.060000 0.190000 0.120000 0.123759 0.110000 0 8.000000e-02 1.600000e-01 MYO9B 4650 broad.mit.edu 37 19 17213368 17213368 + Splice_Site SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:17213368G>A ENST00000594824.1 + 2 987 c.e2+1 MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site Q13459 MYO9B_HUMAN myosin IXB 39 TGTGCTGGAGGTGAGCGGGGA 0.607000 0 SO:0001630 splice_region_variant ENST00000594824.1 0 1 hg19 . . . . . . . . . . G 21.1 4.091562 0.76756 . . ENSG00000099331 ENST00000397274 . . . 5.3 5.3 0.74995 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.9365 0.89013 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MYO9B 17074368 1.000000 0.71417 1.000000 0.80357 0.876000 0.50452 9.459000 0.97638 2.480000 0.83734 0.655000 0.94253 . TCGA-HZ-A77Q-01A-11D-A36O-08 MYO9B-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000463236.1 0 0 0 11 42 0 9 0 0 1 0 0 9 2 0 0 0 0 0 2 1 0.998935 11 42 0 9 2 0 0 0 0 9 2 -19.994960 1 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.990000 0.930000 1.000000 1.000000 0.995491 0.990000 1 9.900000e-01 1 ZNF14 7561 broad.mit.edu 37 19 19823005 19823005 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:19823005G>T ENST00000344099.3 - 4 1223 c.1085C>A c.(1084-1086)cCa>cAa p.P362Q NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 32 Renal(1328;0.0474) ACATTCATATGGTTTTTCTCC 0.393000 0 SO:0001583 missense ENST00000344099.3 0 1 hg19 CCDS12409.1 . . . . . . . . . . G 17.67 3.448100 0.63178 . . ENSG00000105708 ENST00000344099 T 0.17213 2.29 1.86 0.672 0.17935 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.40979 0.1139 M 0.86028 2.79 0.24605 N 0.993751 D 0.89917 1.0 D 0.76575 0.988 T 0.14062 -1.0486 9 0.87932 D 0 . 7.6356 0.28264 0.0:0.2677:0.7323:0.0 . 362 P17017 ZNF14_HUMAN Q 362 ENSP00000340514:P362Q ENSP00000340514:P362Q P - 2 0 ZNF14 19684005 0.060000 0.20803 0.200000 0.23457 0.719000 0.41307 0.746000 0.26275 0.084000 0.17077 0.467000 0.42956 CCA TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460775.1 0 0 0 8 421 0 99 0 1.425557e-03 0 3 0 99 2 0 0 0 0 0 2 1 0.988565 9 411 0 98 2 0 0 0 0 99 2 -3.001605 1 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.160000 0.070000 0.300000 0.160000 0.179738 0.160000 0 1.100000e-01 2.400000e-01 ZNF431 170959 broad.mit.edu 37 19 21366085 21366085 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:21366085C>A ENST00000311048.7 + 5 1123 c.979C>A c.(979-981)Cag>Aag p.Q327K ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 23 AGCTTTTAACCAGTCTTCAAC 0.403000 0 SO:0001583 missense ENST00000311048.7 0 1 hg19 CCDS32979.1 . . . . . . . . . . . 0.500 -0.871450 0.02570 . . ENSG00000196705 ENST00000311048 T 0.35421 1.31 1.0 1.0 0.19881 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.20210 0.0486 N 0.16266 0.395 0.09310 N 1 B 0.22851 0.076 B 0.23574 0.047 T 0.22977 -1.0201 9 0.32370 T 0.25 . 6.2054 0.20600 0.0:0.6793:0.3206:0.0 . 327 Q8TF32 ZN431_HUMAN K 327 ENSP00000308578:Q327K ENSP00000308578:Q327K Q + 1 0 ZNF431 21157925 0.000000 0.05858 0.456000 0.27044 0.446000 0.32137 -3.026000 0.00640 0.446000 0.26666 0.449000 0.29647 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF431-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463943.1 0 0 0 9 360 0 88 0 7.431959e-03 0 5 0 88 2 0 0 0 0 0 2 1 0.993440 8 349 0 88 2 0 0 0 0 88 2 -3.168597 1 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.210000 0.100000 0.380000 0.210000 0.231709 0.210000 0 1.500000e-01 3.000000e-01 TSHZ3 57616 broad.mit.edu 37 19 31769737 31769737 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:31769737C>A ENST00000240587.4 - 2 1289 c.962G>T c.(961-963)cGg>cTg p.R321L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 123 Esophageal squamous(110;0.226) AGCTTTCTTCCGAGTGGCAGG 0.527000 0 SO:0001583 missense ENST00000240587.4 0 1 hg19 CCDS12421.2 . . . . . . . . . . C 15.38 2.817102 0.50633 . . ENSG00000121297 ENST00000240587 T 0.12569 2.67 5.33 5.33 0.75918 . 0.120599 0.52532 D 0.000061 T 0.16171 0.0389 L 0.40543 1.245 0.58432 D 0.999998 P 0.42757 0.789 B 0.40101 0.319 T 0.01195 -1.1422 10 0.62326 D 0.03 -26.965 19.0278 0.92939 0.0:1.0:0.0:0.0 . 321 Q63HK5 TSH3_HUMAN L 321 ENSP00000240587:R321L ENSP00000240587:R321L R - 2 0 TSHZ3 36461577 1.000000 0.71417 0.967000 0.41034 0.394000 0.30568 7.487000 0.81328 2.479000 0.83701 0.563000 0.77884 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316743.2 0 0 0 7 439 0 144 0 6.171367e-02 0 22 0 144 2 0 0 0 0 0 2 1 0.975016 8 406 0 135 2 0 0 0 0 144 2 -2.256010 0 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.140000 0.060000 0.270000 0.140000 0.153750 0.140000 0 9.000000e-02 2.000000e-01 ZNF181 339318 broad.mit.edu 37 19 35231549 35231549 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:35231549C>A ENST00000492450.1 + 4 352 c.263C>A c.(262-264)tCa>tAa p.S88* ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87* Q2M3W8 ZN181_HUMAN zinc finger protein 181 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAGGAATTATCAACAAAGAAG 0.264000 0 SO:0001587 stop_gained ENST00000492450.1 0 1 hg19 CCDS32990.2 . . . . . . . . . . C 16.63 3.176182 0.57692 . . ENSG00000197841 ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757 . . . 3.42 2.33 0.28932 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.19147 T 0.46 . 3.7581 0.08593 0.2346:0.6242:0.0:0.1412 . . . . X 132;87;88;87 . ENSP00000376065:S132X S + 2 0 ZNF181 39923389 0.000000 0.05858 0.079000 0.20413 0.847000 0.48162 0.129000 0.15830 0.718000 0.32166 0.491000 0.48974 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF181-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000349005.3 0 0 0 12 603 0 106 0 4.531855e-03 0 5 0 106 2 0 0 0 0 0 2 1 0.999043 12 594 0 106 2 0 0 0 0 106 2 -2.517108 1 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.170000 0.090000 0.280000 0.170000 0.181791 0.170000 0 1.200000e-01 2.300000e-01 PSG3 5671 broad.mit.edu 37 19 43237144 43237144 + Missense_Mutation SNP T T G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:43237144T>G ENST00000327495.5 - 3 685 c.501A>C c.(499-501)ttA>ttC p.L167F PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.L167F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 36 Prostate(69;0.00682) GATCACAGGTTAAGCTCACAG 0.522000 0 SO:0001583 missense ENST00000327495.5 1 1 hg19 CCDS12611.1 . . . . . . . . . . - 9.036 0.988549 0.18966 . . ENSG00000221826 ENST00000327495 T 0.20332 2.08 1.59 0.52 0.17040 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.33411 0.0862 M 0.64170 1.965 0.09310 N 1 D;B 0.64830 0.994;0.395 D;B 0.70227 0.968;0.316 T 0.14896 -1.0456 9 0.34782 T 0.22 . 2.9502 0.05859 0.0:0.277:0.0:0.723 . 145;167 Q08266;Q16557 .;PSG3_HUMAN F 167 ENSP00000332215:L167F ENSP00000332215:L167F L - 3 2 PSG3 47928984 0.000000 0.05858 0.014000 0.15608 0.015000 0.08874 -0.662000 0.05305 0.725000 0.32318 0.324000 0.21423 TTA TCGA-HZ-A77Q-01A-11D-A36O-08 PSG3-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321423.2 0 0 0 29 898 0 283 0 0 0 0 283 2 0 0 0 0 0 2 1 1.000000 29 880 0 294 2 0 0 0 0 283 2 -3.757069 1 1 0 0 1 1 2 3 2.047941 0 0.230000 1.890000 0.236149 0.270000 0.180000 1.000000 0.270000 0.322107 0.270000 0 2.200000e-01 3.500000e-01 RTN2 6253 broad.mit.edu 37 19 45997638 45997638 + Silent SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:45997638G>A ENST00000245923.4 - 4 835 c.600C>T c.(598-600)ccC>ccT p.P200P RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.P200P NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 20 Ovarian(192;0.051)|all_neural(266;0.112) TCAAGACCTCGGGCGATGAGG 0.617000 0 SO:0001819 synonymous_variant ENST00000245923.4 1 1 hg19 CCDS12665.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RTN2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000459574.1 1 0 1 31 194 0 61 1 8.002499e-01 4 17 0 61 2 0 0 0 0 0 2 1 1.000000 31 191 0 60 2 0 0 0 0 61 2 -2.810883 1 1 0 0 1 1 2 3 2.039352 0 0.230000 1.890000 0.234402 0.990000 0.850000 1.000000 1.000000 0.988699 0.990000 1 9.900000e-01 1 ZNF557 79230 broad.mit.edu 37 19 7082034 7082034 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:7082034C>A ENST00000439035.2 + 7 616 c.376C>A c.(376-378)Cga>Aga p.R126R ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R Q8N988 ZN557_HUMAN zinc finger protein 557 17 GCATGTTTTTCGAAAAGAACA 0.348000 0 SO:0001819 synonymous_variant ENST00000439035.2 0 1 hg19 CCDS45945.1 TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF557-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000458502.1 0 0 0 7 368 0 68 0 1.481276e-03 0 3 0 68 2 0 0 0 0 0 2 1 0.979897 7 363 0 68 2 0 0 0 0 68 2 -3.038070 1 1 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.160000 0.070000 0.310000 0.160000 0.182443 0.160000 0 1.100000e-01 2.400000e-01 ZNF358 140467 broad.mit.edu 37 19 7584555 7584555 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr19:7584555G>T ENST00000597229.1 + 2 597 c.427G>T c.(427-429)Gcc>Tcc p.A143S MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 8 GGTGCTccccgcccccgccag 0.741000 0 SO:0001583 missense ENST00000597229.1 0 1 hg19 CCDS32890.2 . . . . . . . . . . G 17.16 3.318275 0.60524 . . ENSG00000198816 ENST00000361576;ENST00000394341 T 0.07021 3.23 4.59 3.53 0.40419 . . . . . T 0.06325 0.0163 N 0.17594 0.5 0.19300 N 0.999978 B 0.33940 0.433 B 0.31290 0.127 T 0.32798 -0.9893 9 0.49607 T 0.09 -17.385 12.6401 0.56705 0.0:0.1684:0.8316:0.0 . 143 Q9NW07 ZN358_HUMAN S 143 ENSP00000377873:A143S ENSP00000354703:A143S A + 1 0 ZNF358 7490555 0.567000 0.26626 0.366000 0.25914 0.772000 0.43724 2.186000 0.42593 1.041000 0.40125 0.462000 0.41574 GCC TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF358-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316747.1 0 0 0 4 132 0 35 0 6.287570e-01 0 65 0 35 2 0 0 0 0 0 2 0 0.866198 0 123 0 33 2 0 0 0 0 35 2 -6.542422 1 0 0 0 1 0 1 1 2.022501 0 0.230000 1.890000 0.228225 0.280000 0.090000 0.590000 0.250000 0.306565 0.280000 0 1.700000e-01 4.300000e-01 ANGPTL7 10218 broad.mit.edu 37 1 11252368 11252368 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:11252368C>A ENST00000376819.3 + 2 657 c.418C>A c.(418-420)Cgc>Agc p.R140S MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) GAAGAACTACCGCATCTCTGG 0.512000 0 SO:0001583 missense ENST00000376819.3 0 1 hg19 CCDS128.1 . . . . . . . . . . C 15.42 2.828114 0.50845 . . ENSG00000171819 ENST00000376819 T 0.76578 -1.03 6.17 5.26 0.73747 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1); 0.369397 0.31624 N 0.007340 T 0.62514 0.2434 L 0.39692 1.235 0.43080 D 0.994731 P 0.43662 0.814 B 0.36464 0.225 T 0.61797 -0.6989 10 0.08179 T 0.78 . 9.13 0.36839 0.2506:0.6827:0.0:0.0667 . 140 O43827 ANGL7_HUMAN S 140 ENSP00000366015:R140S ENSP00000366015:R140S R + 1 0 ANGPTL7 11174955 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.507000 0.35758 1.626000 0.50381 0.655000 0.94253 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 ANGPTL7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005564.1 0 0 0 10 911 0 243 0 4.886668e-02 0 29 0 243 2 0 0 0 0 0 2 1 0.996541 10 893 0 243 2 0 0 0 0 243 2 -1.986339 0 1 0 0 1 1 2 3 2.042898 0 0.230000 1.890000 0.235277 0.090000 0.040000 1.000000 0.100000 0.146057 0.090000 0 6.000000e-02 1.400000e-01 AP4B1 10717 broad.mit.edu 37 1 114442814 114442814 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:114442814G>A ENST00000369569.1 - 5 1106 c.826C>T c.(826-828)Cgg>Tgg p.R276W AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit p.R276W(2) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) CCCTTGACCCGCACAAGGACA 0.483000 2 Substitution - Missense(2) SO:0001583 missense ENST00000369569.1 0 1 hg19 CCDS865.1 . . . . . . . . . . G 16.98 3.272545 0.59649 . . ENSG00000134262 ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415 T;T;T;T;T;T 0.27104 1.69;1.69;1.69;2.55;1.69;1.69 5.09 3.04 0.35103 Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1); 0.174999 0.49305 D 0.000144 T 0.47192 0.1432 M 0.87328 2.875 0.41890 D 0.990362 D;D;D;D 0.89917 1.0;1.0;0.998;1.0 D;D;D;D 0.91635 0.999;0.995;0.974;0.99 T 0.62186 -0.6907 10 0.87932 D 0 . 15.2638 0.73646 0.0:0.0:0.6536:0.3464 . 183;108;276;177 B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3 .;.;AP4B1_HUMAN;. W 108;276;276;183;201;108 ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W ENSP00000256658:R276W R - 1 2 AP4B1 114244337 0.992000 0.36948 0.837000 0.33122 0.912000 0.54170 1.685000 0.37659 1.225000 0.43566 0.561000 0.74099 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 AP4B1-009 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033037.1 0 0 0 6 336 0 83 0 1.148470e-01 0 28 0 83 2 0 0 0 0 0 2 1 0.963037 6 330 0 82 2 0 0 0 0 83 2 -2.239216 0 1 121412 1 28 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.160000 0.060000 1.000000 0.150000 0.215155 0.160000 0 1.000000e-01 2.600000e-01 GJA8 2703 broad.mit.edu 37 1 147381108 147381108 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:147381108C>T ENST00000369235.1 + 1 1026 c.1026C>T c.(1024-1026)gcC>gcT p.A342A GJA8_ENST00000240986.4_Silent_p.A342A P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 37 all_hematologic(923;0.0276) AGGAGGGAGCCGAACCCGAGG 0.652000 Melanoma(76;1255 1795 8195 52096) 0 SO:0001819 synonymous_variant ENST00000369235.1 0 1 hg19 CCDS30834.1 TCGA-HZ-A77Q-01A-11D-A36O-08 GJA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060647.1 0 0 0 3 28 0 8 0 0 0 0 8 2 0 0 0 0 0 2 1 0.802167 3 27 0 8 2 0 0 0 0 8 2 -5.145069 1 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.880000 0.270000 1.000000 1.000000 0.799926 0.880000 1 5.200000e-01 1 FLG 2312 broad.mit.edu 37 1 152277569 152277569 + Missense_Mutation SNP C C A rs144217264 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:152277569C>A ENST00000368799.1 - 3 9828 c.9793G>T c.(9793-9795)Ggg>Tgg p.G3265W FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGAGTGCCCGTGACCGGCT 0.582000 Ichthyosis 0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris ENST00000368799.1 0 1 hg19 CCDS30860.1 . . . . . . . . . . C 9.452 1.090737 0.20471 . . ENSG00000143631 ENST00000368799;ENST00000368796 T 0.01145 5.27 2.33 2.33 0.28932 . . . . . T 0.02193 0.0068 M 0.71581 2.175 0.09310 N 1 D 0.89917 1.0 D 0.87578 0.998 T 0.44528 -0.9322 9 0.72032 D 0.01 -5.3773 8.176 0.31283 0.0:1.0:0.0:0.0 . 3265 P20930 FILA_HUMAN W 3265;203 ENSP00000357789:G3265W ENSP00000357786:G203W G - 1 0 FLG 150544193 0.000000 0.05858 0.003000 0.11579 0.036000 0.12997 -0.064000 0.11636 1.305000 0.44909 0.449000 0.29647 GGG TCGA-HZ-A77Q-01A-11D-A36O-08 FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 0 0 0 12 1434 1 571 0 0 0 1 571 2 0 0 0 0 0 2 1 0.645590 13 1410 1 564 11 0 0 0 1 571 2 -1.624409 0 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.070000 0.030000 0.130000 0.080000 0.087095 0.070000 0 5.000000e-02 1.000000e-01 UBAP2L 9898 broad.mit.edu 37 1 154207157 154207157 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:154207157C>A ENST00000361546.2 + 4 412 c.370C>A c.(370-372)Cga>Aga p.R124R UBAP2L_ENST00000271877.7_Silent_p.R124R|UBAP2L_ENST00000343815.6_Silent_p.R124R|UBAP2L_ENST00000428931.1_Silent_p.R124R Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAAAGAAAATCGAGACCGGGA 0.557000 0 SO:0001819 synonymous_variant ENST00000361546.2 1 0 hg19 CCDS1063.1 TCGA-HZ-A77Q-01A-11D-A36O-08 UBAP2L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087673.1 1 0 0 9 173 0 38 0 8.609619e-01 0 71 0 38 2 0 0 0 0 0 2 1 0.994436 9 173 0 37 2 0 0 0 0 38 2 -11.966880 1 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.440000 0.220000 0.820000 0.420000 0.470252 0.440000 0 3.200000e-01 6.100000e-01 ASH1L 55870 broad.mit.edu 37 1 155448756 155448756 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:155448756C>A ENST00000368346.3 - 3 4544 c.3905G>T c.(3904-3906)cGg>cTg p.R1302L ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGAGTGATCCGAATTTCACT 0.393000 0 SO:0001583 missense ENST00000368346.3 0 1 hg19 . . . . . . . . . . C 19.38 3.816696 0.70912 . . ENSG00000116539 ENST00000368346;ENST00000392403 D;D 0.91068 -2.78;-2.78 4.92 4.92 0.64577 . 0.000000 0.64402 D 0.000002 D 0.91199 0.7227 L 0.29908 0.895 0.80722 D 1 D;D 0.63046 0.987;0.992 D;D 0.72982 0.953;0.979 D 0.92702 0.6175 10 0.87932 D 0 . 17.9016 0.88906 0.0:1.0:0.0:0.0 . 1302;1302 Q9NR48;Q9NR48-2 ASH1L_HUMAN;. L 1302 ENSP00000357330:R1302L;ENSP00000376204:R1302L ENSP00000357330:R1302L R - 2 0 ASH1L 153715380 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.651000 0.83577 2.555000 0.86185 0.591000 0.81541 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 ASH1L-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000039400.1 0 0 0 10 564 1 135 0 4.799329e-02 0 18 1 135 2 0 0 0 0 0 2 0 0.195699 10 554 1 133 15 0 0 0 1 135 2 -2.190078 0 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.150000 0.070000 0.290000 0.150000 0.173659 0.150000 0 1.100000e-01 2.200000e-01 SEC16B 89866 broad.mit.edu 37 1 177913756 177913756 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:177913756C>A ENST00000308284.6 - 15 1910 c.1821G>T c.(1819-1821)acG>acT p.T607T RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) p.T608T(1) 35 CGAAGATTTCCGTCCTCTGGA 0.483000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000308284.6 0 1 hg19 CCDS44281.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SEC16B-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084773.16 0 0 0 9 533 0 136 0 4.063797e-02 0 17 0 136 2 0 0 0 0 0 2 1 0.993886 9 525 0 134 2 0 0 0 0 136 2 -1.913219 0 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.140000 0.060000 0.290000 0.140000 0.167470 0.140000 0 1.000000e-01 2.100000e-01 FAM129A 116496 broad.mit.edu 37 1 184777291 184777291 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:184777291C>A ENST00000367511.3 - 10 1445 c.1252G>T c.(1252-1254)Gag>Tag p.E418* FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 45 TGCAGGCGCTCGTGAAGCAGG 0.517000 0 SO:0001587 stop_gained ENST00000367511.3 0 1 hg19 CCDS1364.1 . . . . . . . . . . C 39 7.450749 0.98292 . . ENSG00000135842 ENST00000367511 . . . 5.23 5.23 0.72850 . 0.159368 0.53938 D 0.000041 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.39692 T 0.17 -30.4623 16.9967 0.86369 0.0:1.0:0.0:0.0 . . . . X 418 . ENSP00000356481:E418X E - 1 0 FAM129A 183043914 1.000000 0.71417 0.933000 0.37362 0.867000 0.49689 5.525000 0.67110 2.438000 0.82558 0.655000 0.94253 GAG TCGA-HZ-A77Q-01A-11D-A36O-08 FAM129A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085786.1 0 0 0 9 389 0 127 0 9.976419e-02 0 21 0 127 2 0 0 0 0 0 2 1 0.993790 8 382 0 125 2 0 0 0 0 127 2 -2.441661 0 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.200000 0.090000 0.390000 0.200000 0.223760 0.200000 0 1.400000e-01 2.900000e-01 ASPM 259266 broad.mit.edu 37 1 197086945 197086945 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:197086945G>T ENST00000367409.4 - 17 4295 c.4039C>A c.(4039-4041)Caa>Aaa p.Q1347K ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 165 GCTTTATTTTGAACTTTTTCC 0.289000 0 SO:0001583 missense ENST00000367409.4 0 1 hg19 CCDS1389.1 . . . . . . . . . . G 7.077 0.569453 0.13560 . . ENSG00000066279 ENST00000367409;ENST00000294732;ENST00000367408 T;T;T 0.70282 0.3;-0.47;-0.47 5.72 4.79 0.61399 . 0.624908 0.15769 N 0.245535 T 0.67382 0.2887 M 0.76574 2.34 0.09310 N 1 B;B 0.27765 0.001;0.188 B;B 0.22880 0.003;0.042 T 0.55425 -0.8143 10 0.15952 T 0.53 . 12.3172 0.54964 0.0:0.0:0.6346:0.3654 . 1347;1347 Q4G1H1;Q8IZT6 .;ASPM_HUMAN K 1347;1347;597 ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K ENSP00000294732:Q1347K Q - 1 0 ASPM 195353568 0.978000 0.34361 0.019000 0.16419 0.325000 0.28411 2.287000 0.43505 1.384000 0.46424 0.557000 0.71058 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000088256.1 0 0 0 12 799 0 167 0 0 0 1 0 167 2 0 0 0 0 0 2 1 0.999039 11 790 0 165 2 0 0 0 0 167 2 -2.475444 0 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.130000 0.060000 0.230000 0.130000 0.147229 0.130000 0 9.000000e-02 1.800000e-01 CACNA1S 779 broad.mit.edu 37 1 201019522 201019522 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:201019522C>T ENST00000362061.3 - 34 4462 c.4236G>A c.(4234-4236)gaG>gaA p.E1412E CACNA1S_ENST00000367338.3_Silent_p.E1393E NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 102 Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CTCACTTAGCCTCTGGGTCAT 0.532000 0 SO:0001819 synonymous_variant ENST00000362061.3 1 1 hg19 CCDS1407.1 TCGA-HZ-A77Q-01A-11D-A36O-08 CACNA1S-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087049.1 1 0 0 25 224 0 59 0 0 0 0 59 2 0 0 0 0 0 2 1 1.000000 24 223 0 59 2 0 0 0 0 59 2 -20.000000 1 1 0 0 1 1 2 3 2.026692 0 0.230000 1.890000 0.231767 0.870000 0.580000 1.000000 1.000000 0.865318 0.870000 1 7.200000e-01 1 SH2D5 400745 broad.mit.edu 37 1 21050638 21050638 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:21050638C>T ENST00000444387.2 - 7 1134 c.737G>A c.(736-738)cGc>cAc p.R246H SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H|SH2D5_ENST00000460804.1_5'UTR NM_001103161.1 NP_001096631.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 p.R162H(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) GGCCCCCGAGCGGATCACCTT 0.667000 1 Substitution - Missense(1) SO:0001583 missense ENST00000444387.2 1 1 hg19 CCDS44080.1 . . . . . . . . . . C 25.3 4.627683 0.87560 . . ENSG00000189410 ENST00000375031;ENST00000444387 . . . 4.93 4.01 0.46588 SH2 motif (3); 0.138797 0.49305 N 0.000156 T 0.56877 0.2015 L 0.56769 1.78 0.42777 D 0.993855 B 0.25667 0.131 B 0.18871 0.023 T 0.59984 -0.7351 9 0.66056 D 0.02 . 12.202 0.54331 0.0:0.9156:0.0:0.0844 . 246 Q6ZV89 SH2D5_HUMAN H 162;246 . ENSP00000364171:R162H R - 2 0 SH2D5 20923225 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 4.417000 0.59822 1.303000 0.44873 0.563000 0.77884 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 SH2D5-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007455.2 1 0 1 36 217 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 36 210 0 101 2 0 0 0 0 101 2 -3.080225 1 1 121040 1 32 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.990000 0.900000 1.000000 1.000000 0.994105 0.990000 1 9.900000e-01 1 RCOR3 55758 broad.mit.edu 37 1 211469083 211469083 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:211469083C>A ENST00000367005.4 + 8 972 c.831C>A c.(829-831)ttC>ttA p.F277L RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L|RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 21 TTGAAGAATTCAAACCTCCTG 0.353000 0 SO:0001583 missense ENST00000367005.4 0 1 hg19 CCDS31016.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 9.201|9.201 1.028368|1.028368 0.19512|0.19512 .|. .|. ENSG00000117625|ENSG00000117625 ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460 T;T;T;T;T|. 0.39056|. 1.1;1.1;1.1;1.1;1.1|. 5.11|5.11 5.11|5.11 0.69529|0.69529 Homeodomain-like (1);|. 0.197157|. 0.56097|. D|. 0.000037|. T|T 0.46308|0.46308 0.1386|0.1386 N|N 0.10837|0.10837 0.055|0.055 0.48762|0.48762 D|D 0.999706|0.999706 B;B;B;B|. 0.10296|. 0.001;0.0;0.003;0.001|. B;B;B;B|. 0.11329|. 0.001;0.001;0.006;0.003|. T|T 0.41106|0.41106 -0.9527|-0.9527 10|5 0.05833|. T|. 0.94|. -8.0213|-8.0213 17.0544|17.0544 0.86529|0.86529 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 335;277;335;335|. Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|. .;RCOR3_HUMAN;.;.|. L|K 335;335;335;277;95|122 ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|. ENSP00000355972:F277L|. F|Q +|+ 3|1 2|0 RCOR3|RCOR3 209535706|209535706 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 3.693000|3.693000 0.54735|0.54735 2.519000|2.519000 0.84933|0.84933 0.655000|0.655000 0.94253|0.94253 TTC|CAA TCGA-HZ-A77Q-01A-11D-A36O-08 RCOR3-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000089821.1 0 0 0 7 263 0 43 0 1.699966e-01 0 25 0 43 2 0 0 0 0 0 2 1 0.980209 7 260 0 42 2 0 0 0 0 43 2 -3.564882 1 1 0 0 1 1 2 3 2.031963 0 0.230000 1.890000 0.233526 0.240000 0.100000 1.000000 0.220000 0.275297 0.240000 0 1.600000e-01 3.500000e-01 EIF4G3 8672 broad.mit.edu 37 1 21180069 21180069 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:21180069G>T ENST00000264211.8 - 21 3561 c.3367C>A c.(3367-3369)Cga>Aga p.R1123R EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000602326.1_Silent_p.R1129R NM_003760.4 NP_003751.2 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) AAGGTCCTTCGGGAATCAAAC 0.507000 0 SO:0001819 synonymous_variant ENST00000264211.8 0 1 hg19 CCDS214.1 TCGA-HZ-A77Q-01A-11D-A36O-08 EIF4G3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000007467.3 0 0 0 7 173 0 41 0 8.595789e-01 0 90 0 41 2 0 0 0 0 0 2 1 0.980077 5 172 0 40 2 0 0 0 0 41 2 -3.177570 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.360000 0.160000 1.000000 0.330000 0.407156 0.360000 0 2.400000e-01 5.400000e-01 FLVCR1 28982 broad.mit.edu 37 1 213061865 213061865 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:213061865G>T ENST00000366971.4 + 7 1540 c.1342G>T c.(1342-1344)Gaa>Taa p.E448* FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 12 TTTGGGTTTTGAATTTGCTGT 0.383000 Esophageal Squamous(199;2235 2952 19233 26256) 0 SO:0001587 stop_gained ENST00000366971.4 0 1 hg19 CCDS1510.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 37|37 6.416920|6.416920 0.97550|0.97550 .|. .|. ENSG00000162769|ENSG00000162769 ENST00000366971|ENST00000419102 .|. .|. .|. 5.78|5.78 5.78|5.78 0.91487|0.91487 .|. 0.000000|. 0.85682|. D|. 0.000000|. .|T .|0.79805 .|0.4509 .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.77582 .|-0.2534 .|3 0.87932|. D|. 0|. -27.963|-27.963 19.5996|19.5996 0.95554|0.95554 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|. .|. .|. X|F 448|246 .|. ENSP00000355938:E448X|. E|L +|+ 1|3 0|2 FLVCR1|FLVCR1 211128488|211128488 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 9.238000|9.238000 0.95380|0.95380 2.729000|2.729000 0.93468|0.93468 0.655000|0.655000 0.94253|0.94253 GAA|TTG TCGA-HZ-A77Q-01A-11D-A36O-08 FLVCR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089678.2 0 0 0 9 463 0 102 0 1.231926e-02 0 8 0 102 2 0 0 0 0 0 2 1 0.993848 9 455 0 101 2 0 0 0 0 102 2 -2.851332 1 1 0 0 1 1 2 3 2.031963 0 0.230000 1.890000 0.233526 0.170000 0.080000 1.000000 0.160000 0.206534 0.170000 0 1.200000e-01 2.500000e-01 LYST 1130 broad.mit.edu 37 1 235866228 235866228 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:235866228C>A ENST00000389794.3 - 45 10367 c.10193G>T c.(10192-10194)cGa>cTa p.R3398L LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L Q99698 LYST_HUMAN lysosomal trafficking regulator 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTCTAGCGCTCGTCTCTGAAC 0.453000 0 SO:0001583 missense ENST00000389794.3 0 1 hg19 CCDS31062.1 . . . . . . . . . . C 17.42 3.384645 0.61845 . . ENSG00000143669 ENST00000389794;ENST00000389793 T;T 0.80123 -1.34;-1.34 5.52 5.52 0.82312 BEACH domain (4); 0.000000 0.85682 D 0.000000 D 0.83464 0.5260 N 0.21583 0.68 0.80722 D 1 D 0.69078 0.997 D 0.64877 0.93 D 0.85655 0.1285 10 0.72032 D 0.01 . 19.4447 0.94841 0.0:1.0:0.0:0.0 . 3398 Q99698 LYST_HUMAN L 3398 ENSP00000374444:R3398L;ENSP00000374443:R3398L ENSP00000374443:R3398L R - 2 0 LYST 233932851 1.000000 0.71417 0.557000 0.28306 0.141000 0.21300 7.487000 0.81328 2.608000 0.88229 0.491000 0.48974 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 LYST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097533.5 0 0 0 11 688 0 192 0 2.805679e-02 0 15 0 192 2 0 0 0 0 0 2 1 0.998192 12 676 0 190 2 0 0 0 0 192 2 -2.039163 0 1 0 0 1 1 2 3 2.031963 0 0.230000 1.890000 0.233526 0.140000 0.070000 1.000000 0.140000 0.173340 0.140000 0 1.000000e-01 2.000000e-01 KIF2C 11004 broad.mit.edu 37 1 45219408 45219408 + Missense_Mutation SNP G G T rs150604746 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:45219408G>T ENST00000372224.4 + 7 679 c.566G>T c.(565-567)cGg>cTg p.R189L KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L NM_006845.3 NP_006836.2 Q99661 KIF2C_HUMAN kinesin family member 2C 34 Acute lymphoblastic leukemia(166;0.155) TTCATAGTTCGGAGGAAATCA 0.398000 0 SO:0001583 missense ENST00000372224.4 0 1 hg19 CCDS512.1 . . . . . . . . . . g 32 5.129278 0.94473 . . ENSG00000142945 ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217 T;T;T;T;T;T 0.75589 1.03;-0.94;-0.77;0.76;-0.92;-0.95 6.08 6.08 0.98989 . 0.055839 0.64402 D 0.000002 T 0.76630 0.4014 L 0.38175 1.15 0.53005 D 0.999969 B;P;P 0.47762 0.244;0.9;0.839 B;P;P 0.51135 0.098;0.66;0.542 T 0.76908 -0.2785 10 0.59425 D 0.04 . 19.2272 0.93822 0.0:0.0:1.0:0.0 . 148;135;189 B7Z6Q6;Q99661-2;Q99661 .;.;KIF2C_HUMAN L 148;189;148;180;76;135 ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L ENSP00000361291:R135L R + 2 0 KIF2C 44991995 1.000000 0.71417 1.000000 0.80357 0.782000 0.44232 7.906000 0.87423 2.894000 0.99253 0.655000 0.94253 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 KIF2C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023180.1 0 0 0 7 228 0 57 0 1.711783e-02 0 6 0 57 2 0 0 0 0 0 2 1 0.978562 7 220 0 57 2 0 0 0 0 57 2 -3.158376 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.280000 0.120000 1.000000 0.260000 0.324755 0.280000 0 1.800000e-01 4.100000e-01 ATPAF1 64756 broad.mit.edu 37 1 47101584 47101584 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:47101584C>A ENST00000371937.4 - 9 955 c.851G>T c.(850-852)cGg>cTg p.R284L ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L NM_022745.4 NP_073582.3 Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 8 Acute lymphoblastic leukemia(166;0.155) GGTCTCTTTCCGATCAGTAGC 0.458000 Melanoma(138;107 1777 21672 30337 52312) 0 SO:0001583 missense ENST00000371937.4 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 16.21|16.21 3.059769|3.059769 0.55325|0.55325 .|. .|. ENSG00000123472|ENSG00000123472 ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925 .|T .|0.46063 .|0.88 6.02|6.02 4.17|4.17 0.49024|0.49024 .|. .|0.145674 .|0.64402 .|D .|0.000009 .|T .|0.54415 .|0.1857 M|M 0.68952|0.68952 2.095|2.095 0.48341|0.48341 D|D 0.999639|0.999639 .|P;D;P .|0.71674 .|0.867;0.998;0.943 .|P;D;P .|0.71870 .|0.483;0.975;0.718 .|T .|0.58451 .|-0.7634 .|10 .|0.02654 .|T .|1 -10.3176|-10.3176 12.6294|12.6294 0.56649|0.56649 0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327 .|. .|196;216;284 .|B7Z7I6;A8MRA7;Q5TC12 .|.;.;ATPF1_HUMAN X|L 139|284;88;130;133;216;196 .|ENSP00000361005:R284L .|ENSP00000330685:R216L G|R -|- 1|2 0|0 ATPAF1|ATPAF1 46874171|46874171 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.985000|0.985000 0.73830|0.73830 5.569000|5.569000 0.67391|0.67391 0.885000|0.885000 0.36088|0.36088 -0.145000|-0.145000 0.13849|0.13849 GGA|CGG TCGA-HZ-A77Q-01A-11D-A36O-08 ATPAF1-201 KNOWN basic protein_coding protein_coding 0 0 0 10 931 0 244 0 2.851210e-01 0 91 0 244 2 0 0 0 0 0 2 1 0.996730 13 921 0 243 2 0 0 0 0 244 2 -1.727810 0 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.090000 0.040000 1.000000 0.100000 0.143962 0.090000 0 6.000000e-02 1.400000e-01 SPATA6 54558 broad.mit.edu 37 1 48865184 48865184 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:48865184C>A ENST00000371847.3 - 7 783 c.619G>T c.(619-621)Gaa>Taa p.E207* SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207* NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 p.E207*(1) 21 GTAGGCTGTTCGTAGTTTTTT 0.408000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000371847.3 0 1 hg19 CCDS551.1 . . . . . . . . . . C 37 6.599110 0.97692 . . ENSG00000132122 ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841 . . . 5.57 5.57 0.84162 . 0.120087 0.56097 D 0.000033 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.72032 D 0.01 . 18.5334 0.91000 0.0:1.0:0.0:0.0 . . . . X 207;207;135;48 . ENSP00000360907:E48X E - 1 0 SPATA6 48637771 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 1.736000 0.38187 2.611000 0.88343 0.555000 0.69702 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 SPATA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021347.1 0 0 0 19 773 0 202 0 2.090854e-02 0 9 0 202 2 0 0 0 0 0 2 1 0.999990 19 766 0 201 2 0 0 0 0 202 2 -2.129320 0 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.210000 0.120000 1.000000 0.210000 0.256293 0.210000 0 1.600000e-01 2.800000e-01 DIO1 1733 broad.mit.edu 37 1 54370394 54370394 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:54370394C>A ENST00000361921.3 + 2 417 c.393C>A c.(391-393)ttC>ttA p.F131L DIO1_ENST00000532493.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000388876.3_Intron NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 9 CATTTATGTTCAAATTTGACC 0.393000 0 SO:0001583 missense ENST00000361921.3 0 1 hg19 CCDS41339.1 . . . . . . . . . . C 11.29 1.595138 0.28445 . . ENSG00000211452 ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406 T;T;T;T;T 0.40225 1.04;1.04;1.04;1.57;1.57 5.37 3.49 0.39957 Thioredoxin-like fold (1); 0.395803 0.20764 N 0.086110 T 0.24470 0.0593 L 0.27053 0.805 0.80722 D 1 B;B;B 0.15930 0.002;0.002;0.015 B;B;B 0.15484 0.002;0.003;0.013 T 0.04946 -1.0916 10 0.11182 T 0.66 . 6.6538 0.22977 0.1409:0.6659:0.1215:0.0717 . 131;131;67 P49895-5;P49895;P49895-2 .;IOD1_HUMAN;. L 88;131;131;67;2 ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L ENSP00000323198:F131L F + 3 2 DIO1 54142982 0.998000 0.40836 1.000000 0.80357 0.965000 0.64279 0.814000 0.27239 0.637000 0.30526 0.655000 0.94253 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 DIO1-001 KNOWN basic|appris_principal|CCDS|seleno protein_coding protein_coding OTTHUMT00000023247.3 0 0 0 12 697 0 179 0 0 0 0 179 2 0 0 0 0 0 2 1 0.999065 12 690 0 177 2 0 0 0 0 179 2 -2.306316 0 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.150000 0.070000 1.000000 0.150000 0.198836 0.150000 0 1.100000e-01 2.100000e-01 HSPB11 51668 broad.mit.edu 37 1 54395724 54395724 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:54395724G>T ENST00000194214.5 - 3 582 c.193C>A c.(193-195)Caa>Aaa p.Q65K HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank NM_016126.2 NP_057210.2 Q9Y547 IFT25_HUMAN heat shock protein family B (small), member 11 9 AAGTAACTTTGGATTACAAGC 0.318000 0 SO:0001583 missense ENST00000194214.5 0 1 hg19 CCDS41341.1 . . . . . . . . . . G 11.97 1.798150 0.31777 . . ENSG00000081870 ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376 D;D;D;D 0.98474 -4.95;-4.95;-4.95;-4.95 5.96 5.96 0.96718 Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1); 0.237149 0.43260 D 0.000593 D 0.96614 0.8895 L 0.55103 1.725 0.40074 D 0.976054 B;B 0.28801 0.223;0.052 B;B 0.32724 0.151;0.038 D 0.95288 0.8392 10 0.13853 T 0.58 -16.6923 15.9014 0.79380 0.0:0.0:1.0:0.0 . 65;65 A6NIR2;Q9Y547 .;HSB11_HUMAN K 65 ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K ENSP00000194214:Q65K Q - 1 0 HSPB11 54168312 1.000000 0.71417 0.831000 0.32960 0.703000 0.40648 5.895000 0.69814 2.833000 0.97629 0.591000 0.81541 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 HSPB11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023114.1 0 0 0 9 375 0 85 0 7.256357e-01 0 106 0 85 2 0 0 0 0 0 2 1 0.993306 9 360 0 85 2 0 0 0 0 85 2 -2.848921 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.210000 0.100000 1.000000 0.210000 0.261318 0.210000 0 1.500000e-01 3.100000e-01 LEPR 3953 broad.mit.edu 37 1 66085628 66085628 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:66085628G>T ENST00000349533.6 + 17 2598 c.2413G>T c.(2413-2415)Gag>Tag p.E805* LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805* NM_002303.5 NP_002294.2 O15243 OBRG_HUMAN leptin receptor 36 TATCCCCATTGAGAAGTACCA 0.279000 0 SO:0001587 stop_gained ENST00000349533.6 0 1 hg19 CCDS631.1 . . . . . . . . . . G 44 10.974545 0.99497 . . ENSG00000116678 ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058 . . . 5.74 5.74 0.90152 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.32370 T 0.25 -18.6903 19.9253 0.97100 0.0:0.0:1.0:0.0 . . . . X 805 . ENSP00000340884:E805X E + 1 0 LEPR 65858216 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.292000 0.65673 2.692000 0.91855 0.650000 0.86243 GAG TCGA-HZ-A77Q-01A-11D-A36O-08 LEPR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025275.1 0 0 0 9 513 0 93 0 3.037624e-02 0 14 0 93 2 0 0 0 0 0 2 1 0.993540 9 499 0 92 2 0 0 0 0 93 2 -3.313586 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.150000 0.070000 1.000000 0.150000 0.205219 0.150000 0 1.100000e-01 2.300000e-01 DEPDC1 55635 broad.mit.edu 37 1 68944984 68944984 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:68944984C>A ENST00000456315.2 - 10 2069 c.1955G>T c.(1954-1956)cGa>cTa p.R652L RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 13 TAACACACATCGAGAAAAGGT 0.333000 0 SO:0001583 missense ENST00000456315.2 0 1 hg19 CCDS44159.1 . . . . . . . . . . C 29.2 4.981842 0.93044 . . ENSG00000024526 ENST00000456315;ENST00000370966 T;T 0.40476 1.03;1.03 5.67 5.67 0.87782 Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1); 0.060315 0.64402 D 0.000001 T 0.61211 0.2329 M 0.76328 2.33 0.41882 D 0.990322 D;D 0.89917 1.0;1.0 D;D 0.74348 0.983;0.979 T 0.63651 -0.6589 10 0.66056 D 0.02 0.652 19.76 0.96311 0.0:1.0:0.0:0.0 . 652;368 Q5TB30;Q5TB30-2 DEP1A_HUMAN;. L 652;368 ENSP00000412292:R652L;ENSP00000360005:R368L ENSP00000360005:R368L R - 2 0 DEPDC1 68717572 1.000000 0.71417 0.992000 0.48379 0.968000 0.65278 6.996000 0.76263 2.670000 0.90874 0.585000 0.79938 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 DEPDC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000025514.2 0 0 0 6 223 0 49 0 0 0 1 0 49 2 0 0 0 0 0 2 1 0.961555 6 215 0 49 2 0 0 0 0 49 2 -3.131989 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.250000 0.100000 1.000000 0.220000 0.296254 0.250000 0 1.600000e-01 3.800000e-01 LPHN2 23266 broad.mit.edu 37 1 82436119 82436119 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:82436119C>A ENST00000370728.1 + 18 3488 c.2843C>A c.(2842-2844)tCa>tAa p.S948* LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948* O95490 LPHN2_HUMAN latrophilin 2 119 AGTGAATATTCAAGGAAAAAA 0.388000 0 SO:0001587 stop_gained ENST00000370728.1 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 46|46 12.738490|12.738490 0.99692|0.99692 .|. .|. ENSG00000117114|ENSG00000117114 ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786 .|. .|. .|. 5.83|5.83 5.83|5.83 0.93111|0.93111 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|. 0.32971|. 0.0847|. .|. .|. .|. 0.80722|0.80722 A|A 1|1 .|. .|. .|. .|. .|. .|. T|. 0.33163|. -0.9879|. 3|. .|0.02654 .|T .|1 .|. 20.1133|20.1133 0.97917|0.97917 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|. .|. .|. K|X 816|873;948;948;948;948;935;935;935;935;935;948;935;948;948 .|. .|ENSP00000271029:S948X Q|S +|+ 1|2 0|0 LPHN2|LPHN2 82208707|82208707 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.993000|0.993000 0.82548|0.82548 7.818000|7.818000 0.86416|0.86416 2.762000|2.762000 0.94881|0.94881 0.591000|0.591000 0.81541|0.81541 CAA|TCA TCGA-HZ-A77Q-01A-11D-A36O-08 LPHN2-007 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000027188.1 0 0 0 11 471 0 110 0 6.099434e-02 0 16 0 110 2 0 0 0 0 0 2 1 0.998311 11 468 0 108 2 0 0 0 0 110 2 -2.947842 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.200000 0.100000 1.000000 0.200000 0.252461 0.200000 0 1.500000e-01 2.900000e-01 HFM1 164045 broad.mit.edu 37 1 91816409 91816409 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:91816409C>A ENST00000370425.3 - 18 2190 c.2092G>T c.(2092-2094)Gaa>Taa p.E698* HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377* NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) TTTAAATGTTCAATAAGATGT 0.308000 0 SO:0001587 stop_gained ENST00000370425.3 0 1 hg19 CCDS30769.2 . . . . . . . . . . C 40 8.503240 0.98838 . . ENSG00000162669 ENST00000370425;ENST00000370424;ENST00000370421 . . . 5.32 4.4 0.53042 . 0.000000 0.46442 U 0.000299 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.87932 D 0 . 15.7422 0.77910 0.1376:0.8624:0.0:0.0 . . . . X 698;377;382 . ENSP00000359450:E382X E - 1 0 HFM1 91588997 1.000000 0.71417 0.986000 0.45419 0.768000 0.43524 7.720000 0.84759 1.355000 0.45865 0.460000 0.39030 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 HFM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316716.2 0 0 0 10 440 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 0.996809 10 437 0 87 2 0 0 0 0 87 2 -2.677405 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.200000 0.100000 1.000000 0.190000 0.248575 0.200000 0 1.400000e-01 2.900000e-01 ABCD3 5825 broad.mit.edu 37 1 94956786 94956786 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr1:94956786C>A ENST00000370214.4 + 16 1393 c.1369C>A c.(1369-1371)Cga>Aga p.R457R ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000536817.1_Silent_p.R384R NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) TGTTTTGATCCGAGACCTTAA 0.264000 0 SO:0001819 synonymous_variant ENST00000370214.4 0 1 hg19 CCDS749.1 TCGA-HZ-A77Q-01A-11D-A36O-08 ABCD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029597.1 0 0 0 7 427 0 83 0 2.738249e-01 0 55 0 83 2 0 0 0 0 0 2 1 0.978583 7 414 0 82 2 0 0 0 0 83 2 -2.680164 1 1 0 0 1 1 2 3 2.042901 0 0.230000 1.890000 0.235277 0.150000 0.060000 1.000000 0.140000 0.198929 0.150000 0 1.000000e-01 2.300000e-01 PTPRA 5786 broad.mit.edu 37 20 3016525 3016525 + Missense_Mutation SNP C C G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr20:3016525C>G ENST00000216877.6 + 21 2509 c.2109C>G c.(2107-2109)atC>atG p.I703M PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 17 TGATCAGCATCATCGCCGCCG 0.587000 0 SO:0001583 missense ENST00000216877.6 1 1 hg19 CCDS13039.1 . . . . . . . . . . C 16.32 3.091247 0.55968 . . ENSG00000132670 ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147 T;T;T;T;T;T;T 0.11604 2.76;2.76;2.76;2.76;2.76;2.76;2.76 5.57 4.63 0.57726 Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1); 0.060068 0.64402 U 0.000008 T 0.13030 0.0316 N 0.13140 0.3 0.54753 D 0.999987 B;P;B 0.49559 0.024;0.925;0.13 B;P;B 0.53549 0.03;0.729;0.158 T 0.12319 -1.0552 10 0.42905 T 0.14 . 14.6291 0.68643 0.0:0.9297:0.0:0.0703 . 723;712;703 B7Z2A4;P18433;P18433-4 .;PTPRA_HUMAN;. M 712;703;712;568;322;723;703;703 ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M ENSP00000216877:I703M I + 3 3 PTPRA 2964525 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 2.486000 0.45259 1.339000 0.45563 0.563000 0.77884 ATC TCGA-HZ-A77Q-01A-11D-A36O-08 PTPRA-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077682.3 1 0 1 60 274 0 129 1 1 57 166 0 129 2 0 0 0 0 0 2 1 1.000000 60 271 0 129 2 0 0 0 0 129 2 -20.000000 1 1 0 0 1 2 2 4 2.124551 1 0.230000 1.890000 0.267085 0.990000 0.990000 1.000000 1.000000 0.999998 0.990000 1 9.900000e-01 1 SAMHD1 25939 broad.mit.edu 37 20 35533826 35533826 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr20:35533826G>T ENST00000262878.4 - 12 1550 c.1351C>A c.(1351-1353)Cgt>Agt p.R451S NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 20 Myeloproliferative disorder(115;0.00878) AATAGATTACGGTATTCAATT 0.348000 0 SO:0001583 missense ENST00000262878.4 0 1 hg19 CCDS13288.1 . . . . . . . . . . G 21.4 4.144911 0.77888 . . ENSG00000101347 ENST00000262878 D 0.96830 -4.14 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.98544 0.9514 M 0.92833 3.35 0.80722 D 1 D 0.76494 0.999 D 0.72982 0.979 D 0.99533 1.0961 10 0.87932 D 0 -9.9304 18.2234 0.89909 0.0:0.0:1.0:0.0 . 451 Q9Y3Z3 SAMH1_HUMAN S 451 ENSP00000262878:R451S ENSP00000262878:R451S R - 1 0 SAMHD1 34967240 1.000000 0.71417 0.300000 0.25030 0.629000 0.37895 7.652000 0.83633 2.644000 0.89710 0.462000 0.41574 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 SAMHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079062.2 0 0 0 13 752 0 158 0 6.323137e-01 0 122 0 158 2 0 0 0 0 0 2 1 0.999472 12 739 0 157 2 0 0 0 0 158 2 -2.021688 0 1 0 0 1 2 2 4 2.124551 1 0.230000 1.890000 0.267085 0.160000 0.080000 1.000000 0.150000 0.302335 0.160000 0 1.200000e-01 1 ZNFX1 57169 broad.mit.edu 37 20 47887028 47887028 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr20:47887028G>T ENST00000396105.1 - 3 1567 c.1321C>A c.(1321-1323)Cgc>Agc p.R441S ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTCTGCCAGCGAACAAACTTC 0.448000 0 SO:0001583 missense ENST00000396105.1 0 1 hg19 CCDS13417.1 . . . . . . . . . . G 16.57 3.160937 0.57368 . . ENSG00000124201 ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070 D;D;D;T;D 0.87256 -1.97;-2.23;-2.23;-0.93;-1.64 5.85 5.85 0.93711 . 0.215288 0.48286 D 0.000200 D 0.91855 0.7422 M 0.66939 2.045 0.58432 D 0.99999 D 0.76494 0.999 D 0.65140 0.932 D 0.88693 0.3210 10 0.20519 T 0.43 -23.2852 18.7272 0.91718 0.0:0.0:1.0:0.0 . 441 Q9P2E3 ZNFX1_HUMAN S 441;441;441;441;441;245 ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S ENSP00000360809:R441S R - 1 0 ZNFX1 47320435 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.651000 0.74372 2.773000 0.95371 0.655000 0.94253 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 ZNFX1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079647.2 0 0 0 10 707 0 215 0 1.431234e-01 0 43 0 215 2 0 0 0 0 0 2 1 0.996604 11 693 0 212 2 0 0 0 0 215 2 -2.278961 0 1 0 0 1 2 2 4 2.124551 1 0.230000 1.890000 0.267085 0.140000 0.060000 1.000000 0.120000 0.279811 0.140000 0 9.000000e-02 1 ZNF217 7764 broad.mit.edu 37 20 52193233 52193233 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr20:52193233G>T ENST00000371471.2 - 4 2495 c.2070C>A c.(2068-2070)tcC>tcA p.S690S RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.S690S O75362 ZN217_HUMAN zinc finger protein 217 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GAGCCCCCACGGATAAATTTA 0.428000 0 SO:0001819 synonymous_variant ENST00000371471.2 0 1 hg19 CCDS13443.1 TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF217-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079757.2 0 0 0 11 601 0 165 0 1.647522e-02 0 8 0 165 2 0 0 0 0 0 2 1 0.998178 12 589 0 162 2 0 0 0 0 165 2 -2.061245 0 1 0 0 1 2 2 4 2.124551 1 0.230000 1.890000 0.267085 0.180000 0.080000 1.000000 0.170000 0.312035 0.180000 0 1.200000e-01 1 HUNK 30811 broad.mit.edu 37 21 33312484 33312484 + Missense_Mutation SNP A A G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr21:33312484A>G ENST00000270112.2 + 3 922 c.562A>G c.(562-564)Aag>Gag p.K188E NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 30 CAGAGACTTGAAGATAGAGAA 0.299000 0 SO:0001583 missense ENST00000270112.2 1 1 hg19 CCDS13610.1 . . . . . . . . . . A 26.0 4.698055 0.88830 . . ENSG00000142149 ENST00000270112;ENST00000430354 D;D 0.91068 -2.78;-2.78 5.22 5.22 0.72569 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.97788 0.9274 H 0.99863 4.86 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 D 0.99437 1.0937 10 0.87932 D 0 -36.0584 15.5563 0.76196 1.0:0.0:0.0:0.0 . 188 P57058 HUNK_HUMAN E 188;73 ENSP00000270112:K188E;ENSP00000411860:K73E ENSP00000270112:K188E K + 1 0 HUNK 32234355 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.186000 0.89706 2.317000 0.78254 0.460000 0.39030 AAG TCGA-HZ-A77Q-01A-11D-A36O-08 HUNK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000192782.1 1 0 0 12 233 0 51 0 8.555444e-03 0 3 0 51 2 0 0 0 0 0 2 1 0.999141 12 231 0 49 2 0 0 0 0 51 2 -14.509870 1 1 0 0 1 0 0 0 1.913835 0 0.230000 1.890000 0.183024 0.400000 0.220000 0.650000 0.400000 0.423522 0.400000 0 3.000000e-01 5.300000e-01 TTC3 7267 broad.mit.edu 37 21 38501361 38501361 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr21:38501361C>A ENST00000399017.2 + 16 4103 c.1356C>A c.(1354-1356)ttC>ttA p.F452L TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 75 Myeloproliferative disorder(46;0.0412) CAGAAAAGTTCAGGTATGTTT 0.299000 Ovarian(38;194 1649 35661) 0 SO:0001583 missense ENST00000399017.2 0 1 hg19 CCDS13651.1 . . . . . . . . . . C 5.465 0.270881 0.10349 . . ENSG00000182670 ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749 T;T;T;T;T;T;T 0.38722 1.52;1.52;1.52;3.27;1.12;3.27;3.27 5.33 0.0492 0.14288 . 1.304020 0.05165 N 0.498569 T 0.18882 0.0453 N 0.08118 0 0.09310 N 0.999995 B;B 0.14012 0.0;0.009 B;B 0.09377 0.0;0.004 T 0.18398 -1.0338 10 0.11485 T 0.65 10.7736 2.9223 0.05773 0.2841:0.3761:0.2536:0.0862 . 142;452 B4DSZ9;P53804 .;TTC3_HUMAN L 452;452;434;452;142;452;452 ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L ENSP00000346791:F452L F + 3 2 TTC3 37423231 0.076000 0.21285 0.369000 0.25952 0.767000 0.43475 -0.036000 0.12185 0.323000 0.23307 0.655000 0.94253 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194776.1 0 0 0 8 382 0 90 0 1.866262e-01 0 34 0 90 2 0 0 0 0 0 2 1 0.988492 8 373 0 89 2 0 0 0 0 90 2 -3.302512 1 1 0 0 1 0 0 0 1.913835 0 0.230000 1.890000 0.183024 0.170000 0.070000 0.310000 0.170000 0.186016 0.170000 0 1.200000e-01 2.400000e-01 BRWD1 54014 broad.mit.edu 37 21 40578076 40578076 + Missense_Mutation SNP C C A rs147847700 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr21:40578076C>A ENST00000333229.2 - 37 4649 c.4322G>T c.(4321-4323)cGg>cTg p.R1441L BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L NM_018963.4 NP_061836.2 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ACAATTTTGCCGTTGCTTGAA 0.328000 Melanoma(170;988 1986 4794 16843 39731) 0 SO:0001583 missense ENST00000333229.2 0 1 hg19 CCDS13662.1 . . . . . . . . . . C 9.592 1.126374 0.20959 . . ENSG00000185658 ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783 T;T;T 0.59224 0.28;0.31;0.38 4.87 2.09 0.27110 . 0.173450 0.35970 N 0.002879 T 0.49150 0.1540 L 0.58101 1.795 0.09310 N 1 P;P;B 0.41546 0.632;0.754;0.358 B;B;B 0.38428 0.273;0.256;0.067 T 0.44952 -0.9294 10 0.72032 D 0.01 -0.1605 7.9196 0.29837 0.0:0.6:0.0:0.4 . 1441;1441;1441 Q9NSI6-3;Q9NSI6-2;Q9NSI6 .;.;BRWD1_HUMAN L 1441;1441;1441;397 ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L ENSP00000330753:R1441L R - 2 0 BRWD1 39499946 0.025000 0.19082 0.345000 0.25642 0.581000 0.36288 0.356000 0.20181 0.141000 0.18875 -0.258000 0.10820 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 BRWD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141398.3 0 0 0 10 871 0 245 0 5.672620e-03 0 9 0 245 2 0 0 0 0 0 2 1 0.996507 9 853 0 240 2 0 0 0 0 245 2 -1.856495 0 1 0 0 1 0 0 0 1.913835 0 0.230000 1.890000 0.183024 0.090000 0.040000 0.160000 0.090000 0.101578 0.090000 0 6.000000e-02 1.300000e-01 PCP4 5121 broad.mit.edu 37 21 41300976 41300976 + Silent SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr21:41300976G>A ENST00000328619.5 + 3 314 c.129G>A c.(127-129)gcG>gcA p.A43A PCP4_ENST00000468717.1_3'UTR NM_006198.2 NP_006189.2 P48539 PCP4_HUMAN Purkinje cell protein 4 p.A43A(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) AACGTGCAGCGGTGGCCATTC 0.463000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000328619.5 1 1 hg19 CCDS33563.1 TCGA-HZ-A77Q-01A-11D-A36O-08 PCP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195025.1 1 0 0 25 323 0 109 0 1.151540e-01 1 7 0 109 2 0 0 0 0 0 2 1 1.000000 25 321 0 109 2 0 0 0 0 109 2 -2.598640 1 1 121412 1 33 1 0 0 0 1.913835 0 0.230000 1.890000 0.183024 0.580000 0.390000 0.820000 0.580000 0.600985 0.580000 0 4.800000e-01 7.100000e-01 POFUT2 23275 broad.mit.edu 37 21 46687600 46687600 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr21:46687600G>T ENST00000349485.5 - 8 1067 c.1041C>A c.(1039-1041)ccC>ccA p.P347P POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.P347P NM_133635.4 NP_598368.2 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 20 TCACCATCTCGGGTAACAGCT 0.517000 0 SO:0001819 synonymous_variant ENST00000349485.5 0 1 hg19 CCDS13719.1 TCGA-HZ-A77Q-01A-11D-A36O-08 POFUT2-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000192573.2 0 0 0 12 784 0 260 0 1.298533e-01 0 38 0 260 2 0 0 0 0 0 2 1 0.998969 11 766 0 254 2 0 0 0 0 260 2 -1.732341 0 1 0 0 1 0 0 0 1.913835 0 0.230000 1.890000 0.183024 0.120000 0.060000 0.210000 0.120000 0.132763 0.120000 0 9.000000e-02 1.700000e-01 KLHL22 84861 broad.mit.edu 37 22 20819390 20819390 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr22:20819390C>T ENST00000328879.4 - 4 1023 c.867G>A c.(865-867)ccG>ccA p.P289P KLHL22_ENST00000440659.2_Silent_p.P146P NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCTCCGTTTGCGGGCTCTGCA 0.632000 0 SO:0001819 synonymous_variant ENST00000328879.4 0 1 hg19 CCDS13780.1 TCGA-HZ-A77Q-01A-11D-A36O-08 KLHL22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320045.2 0 0 0 4 160 0 66 0 1.998660e-01 0 27 0 66 2 0 0 0 0 0 2 1 0.888455 4 158 0 65 2 0 0 0 0 66 2 -3.569249 1 1 0 0 1 0 2 2 1.913390 1 0.230000 1.890000 0.230000 0.250000 0.080000 1.000000 0.210000 0.339555 0.250000 0 1.400000e-01 4.600000e-01 MORC2 22880 broad.mit.edu 37 22 31328956 31328956 + Silent SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr22:31328956G>A ENST00000397641.3 - 22 2850 c.2442C>T c.(2440-2442)gcC>gcT p.A814A MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.A752A Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 21 CCACCTCCACGGCTGTGACAC 0.572000 0 SO:0001819 synonymous_variant ENST00000397641.3 1 1 hg19 TCGA-HZ-A77Q-01A-11D-A36O-08 MORC2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000321710.2 1 0 1 155 662 0 226 1 9.999958e-01 20 56 0 226 2 0 0 0 0 0 2 1 1.000000 152 647 0 223 2 0 0 0 0 226 2 -3.195416 1 0 121412 1 34 1 0 2 2 1.913390 1 0.230000 1.890000 0.230000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 LRP1B 53353 broad.mit.edu 37 2 141816539 141816539 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:141816539G>T ENST00000389484.3 - 9 2292 c.1321C>A c.(1321-1323)Cga>Aga p.R441R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) CCATTAAATCGGTTTATCCTT 0.328000 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 SO:0001819 synonymous_variant ENST00000389484.3 0 1 hg19 CCDS2182.1 TCGA-HZ-A77Q-01A-11D-A36O-08 LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 0 0 0 11 494 0 115 0 0 0 0 115 2 0 0 0 0 0 2 1 0.998173 9 486 0 115 2 0 0 0 0 115 2 -2.879461 1 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.230000 0.100000 1.000000 0.200000 0.402551 0.230000 0 1.500000e-01 1 ARHGAP15 55843 broad.mit.edu 37 2 144314047 144314047 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:144314047C>A ENST00000295095.6 + 11 1163 c.996C>A c.(994-996)gtC>gtA p.V332V RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 34 GATTTATTGTCAACCAAGGTA 0.318000 0 SO:0001819 synonymous_variant ENST00000295095.6 0 1 hg19 CCDS2184.1 TCGA-HZ-A77Q-01A-11D-A36O-08 ARHGAP15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254793.2 0 0 0 15 808 0 156 0 2.529782e-01 0 50 0 156 2 0 0 0 0 0 2 1 0.999845 15 789 0 152 2 0 0 0 0 156 2 -2.468838 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.180000 0.090000 1.000000 0.170000 0.373270 0.180000 0 1.300000e-01 1 TPO 7173 broad.mit.edu 37 2 1497610 1497610 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:1497610G>A ENST00000345913.4 + 11 1896 c.1805G>A c.(1804-1806)cGc>cAc p.R602H TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGCCTGCCTCGCCTGGAGACC 0.577000 0 SO:0001583 missense ENST00000345913.4 0 1 hg19 CCDS1643.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 13.53|13.53 2.266050|2.266050 0.40095|0.40095 0.0|0.0 1.16E-4|1.16E-4 ENSG00000115705|ENSG00000115705 ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607 .|T;T;T;T;T;T;T;T;T .|0.70749 .|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51 4.84|4.84 3.96|3.96 0.45880|0.45880 .|. .|0.089088 .|0.64402 .|D .|0.000001 D|D 0.82337|0.82337 0.5015|0.5015 M|M 0.84773|0.84773 2.715|2.715 0.36481|0.36481 D|D 0.867864|0.867864 .|D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0 .|D;D;D;D .|0.78314 .|0.984;0.967;0.976;0.991 D|D 0.84961|0.84961 0.0877|0.0877 5|10 .|0.66056 .|D .|0.02 -13.2581|-13.2581 6.5333|6.5333 0.22339|0.22339 0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345 .|. .|602;429;545;602 .|P07202-4;P07202-5;P07202-2;P07202 .|.;.;.;PERT_HUMAN T|H 77|602;602;602;429;602;545;429;531;76 .|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H .|ENSP00000329869:R602H A|R +|+ 1|2 0|0 TPO|TPO 1476617|1476617 0.002000|0.002000 0.14202|0.14202 0.002000|0.002000 0.10522|0.10522 0.101000|0.101000 0.19017|0.19017 0.772000|0.772000 0.26647|0.26647 1.151000|1.151000 0.42436|0.42436 0.561000|0.561000 0.74099|0.74099 GCC|CGC TCGA-HZ-A77Q-01A-11D-A36O-08 TPO-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206594.2 0 0 0 24 115 1 34 0 0 0 1 1 34 2 0 0 0 0 0 2 1 0.968407 23 114 1 34 14 0 0 0 1 34 2 -20.000000 1 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.990000 0.990000 1.000000 1.000000 0.999332 0.990000 1 9.900000e-01 1 NEB 4703 broad.mit.edu 37 2 152484296 152484296 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:152484296C>A ENST00000172853.10 - 65 9302 c.9155G>T c.(9154-9156)cGg>cTg p.R3052L NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L P20929 NEBU_HUMAN nebulin 301 TTCAATGTTCCGGGCTCCAAT 0.438000 0 SO:0001583 missense ENST00000172853.10 0 1 hg19 . . . . . . . . . . C 23.8 4.461325 0.84317 . . ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853 T;T;T;T 0.09538 2.97;3.02;2.99;2.97 5.54 5.54 0.83059 . 0.000000 0.85682 D 0.000000 T 0.15089 0.0364 L 0.38175 1.15 0.80722 D 1 P 0.45672 0.864 P 0.45037 0.467 T 0.00632 -1.1635 10 0.49607 T 0.09 . 19.5601 0.95368 0.0:1.0:0.0:0.0 . 3052 P20929 NEBU_HUMAN L 3052;3295;3295;3052 ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L ENSP00000172853:R3052L R - 2 0 NEB 152192542 0.989000 0.36119 0.899000 0.35326 0.954000 0.61252 3.126000 0.50477 2.620000 0.88729 0.650000 0.86243 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 NEB-201 KNOWN basic protein_coding protein_coding 0 0 0 10 1165 0 277 0 0 0 0 277 2 0 0 0 0 0 2 1 0.996470 10 1137 0 276 2 0 0 0 0 277 2 -1.772008 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.080000 0.030000 1.000000 0.080000 0.303691 0.080000 0 5.000000e-02 1 MARCH7 64844 broad.mit.edu 37 2 160605292 160605292 + Silent SNP C C A rs149881046 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:160605292C>A ENST00000259050.4 + 5 1613 c.1491C>A c.(1489-1491)acC>acA p.T497T MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000409175.1_Silent_p.T497T|MARCH7_ENST00000539065.1_Silent_p.T441T NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 18 GTAATTTGACCGACAATGTCA 0.423000 0 SO:0001819 synonymous_variant ENST00000259050.4 0 1 hg19 CCDS2210.1 TCGA-HZ-A77Q-01A-11D-A36O-08 MARCH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255040.3 0 0 0 12 1106 0 294 0 1.644708e-01 0 62 0 294 2 0 0 0 0 0 2 1 0.998970 12 1079 0 292 2 0 0 0 0 294 2 -1.860174 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.110000 0.050000 1.000000 0.100000 0.319381 0.110000 0 7.000000e-02 1 SCN9A 6335 broad.mit.edu 37 2 167083091 167083091 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:167083091G>T ENST00000409435.1 - 23 4383 c.4384C>A c.(4384-4386)Caa>Aaa p.Q1462K AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 108 Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909) TTTTTCTGTTGGTTGAAATTA 0.264000 0 SO:0001583 missense ENST00000409435.1 0 1 hg19 CCDS46441.1 . . . . . . . . . . G 25.3 4.628730 0.87560 . . ENSG00000169432 ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435 D;D;D;D 0.97016 -4.21;-4.21;-4.21;-4.21 5.46 5.46 0.80206 . 0.000000 0.64402 D 0.000002 D 0.97895 0.9308 M 0.80847 2.515 0.80722 D 1 D 0.61697 0.99 P 0.60541 0.876 D 0.98554 1.0638 10 0.87932 D 0 . 19.3055 0.94161 0.0:0.0:1.0:0.0 . 1451 E7EUN6 . K 1451;1463;1463;1462 ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K ENSP00000304748:Q1463K Q - 1 0 SCN9A 166791337 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.960000 0.87893 2.559000 0.86315 0.591000 0.81541 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 SCN9A-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000333639.1 0 0 0 6 144 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 0.965225 6 143 0 18 2 0 0 0 0 18 2 -3.912536 1 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.450000 0.170000 1.000000 0.360000 0.553187 0.450000 0 2.800000e-01 1 TTN 7273 broad.mit.edu 37 2 179480172 179480172 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:179480172C>A ENST00000591111.1 - 209 43801 c.43577G>T c.(43576-43578)cGa>cTa p.R14526L TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000456053.1_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) ATTGGCTGTTCGATCTCTCCA 0.433000 0 SO:0001583 missense ENST00000591111.1 0 1 hg19 . . . . . . . . . . C 12.85 2.060814 0.36373 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.56103 0.48;0.48;0.48;0.48 5.76 5.76 0.90799 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.39226 0.1070 N 0.05330 -0.07 0.32798 N 0.500288 P;P;P;P 0.38992 0.653;0.653;0.653;0.653 B;B;B;B 0.41619 0.361;0.361;0.361;0.361 T 0.56288 -0.8004 9 0.87932 D 0 . 14.3984 0.67027 0.0:0.7375:0.2625:0.0 . 7102;7227;7294;14526 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN L 13599;7102;7294;7227;7102 ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L ENSP00000340554:R7294L R - 2 0 TTN 179188417 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 3.362000 0.52314 2.720000 0.93068 0.655000 0.94253 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 16 904 0 234 0 0 0 1 0 234 2 0 0 0 0 0 2 1 0.999923 16 891 0 232 2 0 0 0 0 234 2 -1.896311 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.170000 0.090000 1.000000 0.160000 0.366691 0.170000 0 1.200000e-01 1 GEN1 348654 broad.mit.edu 37 2 17959283 17959283 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:17959283G>T ENST00000381254.2 + 12 1431 c.1217G>T c.(1216-1218)cGa>cTa p.R406L GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTTAAGACTCGAATCAGAAAT 0.274000 Homologous recombination 0 SO:0001583 missense ENST00000381254.2 0 1 hg19 CCDS1691.1 . . . . . . . . . . G 23.7 4.449211 0.84101 . . ENSG00000178295 ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097 T;T;T 0.44083 0.93;0.93;0.93 5.21 5.21 0.72293 . 0.000000 0.64402 D 0.000008 T 0.66723 0.2818 M 0.76002 2.32 0.50467 D 0.999871 D 0.89917 1.0 D 0.85130 0.997 T 0.70238 -0.4927 10 0.87932 D 0 -14.2737 18.7563 0.91833 0.0:0.0:1.0:0.0 . 406 Q17RS7 GEN_HUMAN L 406;406;177;43 ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L ENSP00000318977:R406L R + 2 0 GEN1 17822764 1.000000 0.71417 0.925000 0.36789 0.894000 0.52154 4.945000 0.63568 2.601000 0.87937 0.655000 0.94253 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 GEN1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000241661.2 0 0 0 11 655 0 140 0 3.337541e-03 0 5 0 140 2 0 0 0 0 0 2 1 0.998187 10 645 0 138 2 0 0 0 0 140 2 -2.360417 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.170000 0.080000 1.000000 0.150000 0.363263 0.170000 0 1.100000e-01 1 COL3A1 1281 broad.mit.edu 37 2 189858794 189858794 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:189858794G>T ENST00000304636.3 + 17 1350 c.1180G>T c.(1180-1182)Ggt>Tgt p.G394C COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048) TAGTCCTGGTGGTAAAGGCGA 0.373000 0 SO:0001583 missense ENST00000304636.3 0 1 hg19 CCDS2297.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.64|16.64 3.180414|3.180414 0.57800|0.57800 .|. .|. ENSG00000168542|ENSG00000168542 ENST00000304636;ENST00000317840|ENST00000450867 D;D|. 0.94376|. -3.41;-3.41|. 5.86|5.86 5.86|5.86 0.93980|0.93980 .|. 0.000000|. 0.52532|. D|. 0.000069|. T|T 0.53706|0.53706 0.1813|0.1813 L|L 0.29908|0.29908 0.895|0.895 0.39856|0.39856 D|D 0.973315|0.973315 D|. 0.76494|. 0.999|. D|. 0.65323|. 0.934|. T|T 0.49735|0.49735 -0.8908|-0.8908 10|5 0.56958|. D|. 0.05|. .|. 12.7679|12.7679 0.57403|0.57403 0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0 .|. 394|. P02461|. CO3A1_HUMAN|. C|L 394|60 ENSP00000304408:G394C;ENSP00000315243:G394C|. ENSP00000304408:G394C|. G|W +|+ 1|2 0|0 COL3A1|COL3A1 189567039|189567039 0.787000|0.787000 0.28750|0.28750 0.996000|0.996000 0.52242|0.52242 0.984000|0.984000 0.73092|0.73092 2.172000|2.172000 0.42463|0.42463 2.937000|2.937000 0.99478|0.99478 0.650000|0.650000 0.86243|0.86243 GGT|TGG TCGA-HZ-A77Q-01A-11D-A36O-08 COL3A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255899.3 0 0 0 8 400 0 96 1 1 4 7483 0 96 2 0 0 0 0 0 2 1 0.988528 7 392 0 96 2 0 0 0 0 96 2 -3.182292 1 0 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.190000 0.080000 1.000000 0.170000 0.300060 0.190000 0 1.300000e-01 3.300000e-01 DNAH7 56171 broad.mit.edu 37 2 196825552 196825552 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:196825552C>A ENST00000312428.6 - 18 2423 c.2323G>T c.(2323-2325)Gaa>Taa p.E775* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 205 CTGCTAAATTCGACAGCAGTT 0.393000 0 SO:0001587 stop_gained ENST00000312428.6 0 1 hg19 CCDS42794.1 . . . . . . . . . . C 41 8.546907 0.98857 . . ENSG00000118997 ENST00000312428 . . . 5.74 5.74 0.90152 . 0.062767 0.64402 D 0.000007 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.23891 T 0.37 . 19.9196 0.97082 0.0:1.0:0.0:0.0 . . . . X 775 . ENSP00000311273:E775X E - 1 0 DNAH7 196533797 0.999000 0.42202 0.920000 0.36463 0.863000 0.49368 4.270000 0.58896 2.708000 0.92522 0.650000 0.86243 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 DNAH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335202.3 0 0 0 12 670 0 143 0 0 0 0 143 2 0 0 0 0 0 2 1 0.999039 10 662 0 141 2 0 0 0 0 143 2 -2.389722 0 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.160000 0.080000 1.000000 0.150000 0.278020 0.160000 0 1.200000e-01 2.600000e-01 HECW2 57520 broad.mit.edu 37 2 197090556 197090556 + Missense_Mutation SNP A A G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:197090556A>G ENST00000260983.3 - 23 4138 c.3956T>C c.(3955-3957)aTa>aCa p.I1319T HECW2_ENST00000409111.1_Missense_Mutation_p.I963T NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 113 ATACTGGTGTATTAGTGCAAG 0.403000 0 SO:0001583 missense ENST00000260983.3 1 1 hg19 CCDS33354.1 . . . . . . . . . . A 25.4 4.636658 0.87760 . . ENSG00000138411 ENST00000409111;ENST00000260983 T;T 0.57907 0.37;0.37 5.17 5.17 0.71159 HECT (4); 0.089981 0.85682 D 0.000000 T 0.62429 0.2427 M 0.64997 1.995 0.80722 D 1 D 0.53619 0.961 P 0.52627 0.704 T 0.67581 -0.5634 10 0.87932 D 0 . 15.1845 0.72989 1.0:0.0:0.0:0.0 . 1319 Q9P2P5 HECW2_HUMAN T 963;1319 ENSP00000386775:I963T;ENSP00000260983:I1319T ENSP00000260983:I1319T I - 2 0 HECW2 196798801 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.761000 0.91691 2.182000 0.69389 0.459000 0.35465 ATA TCGA-HZ-A77Q-01A-11D-A36O-08 HECW2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335199.3 1 0 1 36 320 0 87 0 2.772615e-01 0 10 0 87 2 0 0 0 0 0 2 1 1.000000 36 314 0 86 2 0 0 0 0 87 2 -20.000000 1 0 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.920000 0.650000 1.000000 1.000000 0.900331 0.920000 1 7.700000e-01 1 NIF3L1 60491 broad.mit.edu 37 2 201760066 201760066 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:201760066C>A ENST00000409020.1 + 4 973 c.679C>A c.(679-681)Cgg>Agg p.R227R NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R Q9GZT8 GTPC1_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 13 TTTTCTTTCCCGGAACAAACA 0.373000 0 SO:0001819 synonymous_variant ENST00000409020.1 0 1 hg19 CCDS46485.1 TCGA-HZ-A77Q-01A-11D-A36O-08 NIF3L1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336201.1 0 0 0 10 541 0 108 0 1.355065e-01 0 32 0 108 2 0 0 0 0 0 2 1 0.996566 10 529 0 107 2 0 0 0 0 108 2 -2.216423 0 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.170000 0.080000 1.000000 0.160000 0.284637 0.170000 0 1.200000e-01 2.900000e-01 CYP20A1 57404 broad.mit.edu 37 2 204137450 204137450 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:204137450C>A ENST00000356079.4 + 6 781 c.658C>A c.(658-660)Cgg>Agg p.R220R CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R228R NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 11 AAACATGACTCGGAAAAAACA 0.313000 0 SO:0001819 synonymous_variant ENST00000356079.4 0 1 hg19 CCDS2357.1 TCGA-HZ-A77Q-01A-11D-A36O-08 CYP20A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256328.3 0 0 0 6 247 0 45 0 9.140888e-02 0 17 0 45 2 0 0 0 0 0 2 1 0.962825 5 242 0 45 2 0 0 0 0 45 2 -2.876436 1 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.240000 0.090000 1.000000 0.210000 0.341067 0.240000 0 1.500000e-01 4.300000e-01 MDH1B 130752 broad.mit.edu 37 2 207622074 207622074 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:207622074C>A ENST00000374412.3 - 3 432 c.157G>T c.(157-159)Gaa>Taa p.E53* MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR NM_001039845.1|NM_001282940.1 NP_001034934.1|NP_001269869.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 34 TTATTCTTTTCACACACATCT 0.373000 Pancreas(76;29 1355 28675 37177 51207) 0 SO:0001587 stop_gained ENST00000374412.3 0 1 hg19 CCDS33365.1 . . . . . . . . . . C 7.721 0.697252 0.15106 . . ENSG00000138400 ENST00000374412;ENST00000454776;ENST00000392214 . . . 5.84 -1.43 0.08884 . 0.678176 0.16290 N 0.220957 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.19590 T 0.45 -13.4765 6.6365 0.22885 0.113:0.437:0.0:0.4499 . . . . X 53 . ENSP00000363533:E53X E - 1 0 MDH1B 207330319 0.957000 0.32711 0.889000 0.34880 0.015000 0.08874 0.114000 0.15520 0.073000 0.16731 -0.768000 0.03414 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 MDH1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256429.2 0 0 0 10 510 0 97 0 4.816604e-04 0 2 0 97 2 0 0 0 0 0 2 1 0.996650 9 502 0 97 2 0 0 0 0 97 2 -2.799896 1 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.180000 0.080000 1.000000 0.170000 0.293618 0.180000 0 1.300000e-01 3.000000e-01 USP37 57695 broad.mit.edu 37 2 219411667 219411667 + Missense_Mutation SNP G G C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:219411667G>C ENST00000258399.3 - 7 989 c.577C>G c.(577-579)Ctt>Gtt p.L193V USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 35 Renal(207;0.0915) CCTGATCTAAGAGGTGTTGAA 0.398000 0 SO:0001583 missense ENST00000258399.3 1 1 hg19 CCDS2418.1 . . . . . . . . . . G 6.869 0.529682 0.13127 . . ENSG00000135913 ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465 T;T;T;T;T 0.44881 1.02;1.02;1.02;1.02;0.91 4.83 3.93 0.45458 . 0.503731 0.21796 N 0.068985 T 0.25531 0.0621 N 0.24115 0.695 0.25253 N 0.989657 P;B;B 0.47910 0.902;0.372;0.167 B;B;B 0.40066 0.318;0.053;0.016 T 0.09552 -1.0669 10 0.13853 T 0.58 -13.4553 11.632 0.51181 0.0864:0.0:0.9136:0.0 . 193;121;193 Q86W68;Q86T82-2;Q86T82 .;.;UBP37_HUMAN V 193;193;121;193;193 ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V ENSP00000258399:L193V L - 1 0 USP37 219119911 1.000000 0.71417 1.000000 0.80357 0.659000 0.38960 4.336000 0.59304 2.506000 0.84524 0.563000 0.77884 CTT TCGA-HZ-A77Q-01A-11D-A36O-08 USP37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256779.3 1 0 1 83 464 0 121 1 3.486466e-01 2 6 0 121 2 0 0 0 0 0 2 1 1.000000 82 457 0 121 2 0 0 0 0 121 2 -3.018657 1 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.990000 0.990000 1.000000 1.000000 0.999916 0.990000 1 9.900000e-01 1 PTPRN 5798 broad.mit.edu 37 2 220172205 220172205 + Nonsense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:220172205G>A ENST00000295718.2 - 3 481 c.241C>T c.(241-243)Caa>Taa p.Q81* PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81* NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 65 Renal(207;0.0474) TGTAAGCGTTGGAGAACTGGG 0.557000 0 SO:0001587 stop_gained ENST00000295718.2 0 1 hg19 CCDS2440.1 . . . . . . . . . . G 25.2 4.613044 0.87258 . . ENSG00000054356 ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552 . . . 5.09 5.09 0.68999 . 0.101357 0.38778 N 0.001570 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.62326 D 0.03 . 15.3985 0.74816 0.0:0.0:1.0:0.0 . . . . X 81;81;81;81;48 . ENSP00000295718:Q81X Q - 1 0 PTPRN 219880449 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 6.229000 0.72294 2.359000 0.80004 0.460000 0.39030 CAA TCGA-HZ-A77Q-01A-11D-A36O-08 PTPRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256819.2 1 0 0 35 215 0 53 0 6.058377e-01 0 14 0 53 2 0 0 0 0 0 2 1 1.000000 33 210 0 52 2 0 0 0 0 53 2 -3.079316 1 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.990000 0.900000 1.000000 1.000000 0.994105 0.990000 1 9.900000e-01 1 TMEM198 130612 broad.mit.edu 37 2 220412305 220412305 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:220412305C>A ENST00000344458.2 + 4 829 c.244C>A c.(244-246)Cga>Aga p.R82R RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R Q66K66 TM198_HUMAN transmembrane protein 198 16 Renal(207;0.0376) CCTCTGCTACCGAGAGCGGGT 0.632000 0 SO:0001819 synonymous_variant ENST00000344458.2 0 1 hg19 CCDS33385.1 TCGA-HZ-A77Q-01A-11D-A36O-08 TMEM198-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131063.1 0 0 0 10 993 0 328 0 1.219795e-02 0 15 0 328 2 0 0 0 0 0 2 0 0.399682 11 977 1 325 12 0 0 0 0 328 2 -1.797106 0 1 0 0 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.090000 0.040000 1.000000 0.090000 0.216437 0.090000 0 6.000000e-02 1.600000e-01 SLC19A3 80704 broad.mit.edu 37 2 228564041 228564041 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:228564041C>A ENST00000258403.3 - 3 461 c.390G>T c.(388-390)gtG>gtT p.V130V SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) L-Cysteine(DB00151) CGGGGCTGACCACGCTGTATA 0.587000 0 SO:0001819 synonymous_variant ENST00000258403.3 0 1 hg19 CCDS2468.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SLC19A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256894.1 0 0 0 8 433 0 146 0 1.344066e-03 0 3 0 146 2 0 0 0 0 0 2 1 0.988693 9 424 0 144 2 0 0 0 0 146 2 -2.867036 1 1 121412 41 50 1 1 2 3 2.095160 0 0.230000 1.890000 0.244765 0.170000 0.070000 1.000000 0.160000 0.287667 0.170000 0 1.200000e-01 3.000000e-01 RASGRP3 25780 broad.mit.edu 37 2 33745672 33745672 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:33745672C>A ENST00000403687.3 + 6 1029 c.289C>A c.(289-291)Cgt>Agt p.R97S RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) p.R97S(2) 11 all_hematologic(175;0.115) TGGTTTGATTCGTATGACTGA 0.423000 2 Substitution - Missense(2) SO:0001583 missense ENST00000403687.3 0 1 hg19 CCDS46256.1 . . . . . . . . . . C 17.84 3.486860 0.63962 . . ENSG00000152689 ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811 T;T;T;T;T;T 0.44482 0.92;0.92;0.92;0.92;0.92;0.92 5.83 5.83 0.93111 Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3); 0.187977 0.48767 D 0.000170 T 0.44008 0.1273 L 0.33485 1.01 0.43698 D 0.996152 P;P 0.38048 0.616;0.616 P;P 0.44597 0.454;0.454 T 0.11991 -1.0565 10 0.33141 T 0.24 -7.3146 20.1218 0.97964 0.0:1.0:0.0:0.0 . 97;97 D6W583;Q8IV61 .;GRP3_HUMAN S 97 ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S ENSP00000385886:R97S R + 1 0 RASGRP3 33599176 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 2.883000 0.48554 2.763000 0.94921 0.561000 0.74099 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 RASGRP3-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000325462.2 0 0 0 10 845 0 216 0 5.968682e-03 0 9 0 216 2 0 0 0 0 0 2 1 0.996721 9 837 0 214 2 0 0 0 0 216 2 -1.947892 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.120000 0.050000 1.000000 0.100000 0.327831 0.120000 0 8.000000e-02 1 PLEKHH2 130271 broad.mit.edu 37 2 43924402 43924402 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:43924402C>A ENST00000282406.4 + 7 705 c.595C>A c.(595-597)Cga>Aga p.R199R NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTTTTATCTCGAGCAAGGAG 0.428000 0 SO:0001819 synonymous_variant ENST00000282406.4 0 1 hg19 CCDS1812.1 TCGA-HZ-A77Q-01A-11D-A36O-08 PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250537.1 0 0 0 12 533 0 123 0 1.911489e-02 0 9 0 123 2 0 0 0 0 0 2 1 0.999048 11 527 0 122 2 0 0 0 0 123 2 -2.026186 0 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.230000 0.110000 1.000000 0.200000 0.403290 0.230000 0 1.600000e-01 1 CCDC85A 114800 broad.mit.edu 37 2 56419683 56419683 + Silent SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:56419683G>A ENST00000407595.2 + 2 850 c.348G>A c.(346-348)cgG>cgA p.R116R RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATGATGACCGGCAGAAAGGCA 0.532000 0 SO:0001819 synonymous_variant ENST00000407595.2 0 1 hg19 CCDS46290.1 TCGA-HZ-A77Q-01A-11D-A36O-08 CCDC85A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324993.1 0 0 0 5 289 0 98 0 0 0 1 0 98 2 0 0 0 0 0 2 1 0.936374 5 286 0 97 2 0 0 0 0 98 2 -3.058419 1 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.190000 0.060000 1.000000 0.150000 0.378503 0.190000 0 1.100000e-01 1 PCYOX1 51449 broad.mit.edu 37 2 70502134 70502134 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:70502134G>T ENST00000433351.2 + 4 566 c.538G>T c.(538-540)Gaa>Taa p.E180* PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180* NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 15 CAGTAGTGTCGAAAAATTACT 0.423000 0 SO:0001587 stop_gained ENST00000433351.2 0 1 hg19 CCDS1902.1 . . . . . . . . . . G 36 5.695587 0.96802 . . ENSG00000116005 ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138 . . . 5.4 5.4 0.78164 . 0.044521 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.56958 D 0.05 -26.5204 17.9005 0.88902 0.0:0.0:1.0:0.0 . . . . X 103;103;103;180;180;103;102 . ENSP00000264441:E180X E + 1 0 PCYOX1 70355638 1.000000 0.71417 0.965000 0.40720 0.958000 0.62258 9.581000 0.98210 2.811000 0.96726 0.555000 0.69702 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 PCYOX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251872.3 0 0 0 12 557 0 148 0 1.829168e-01 0 34 0 148 2 0 0 0 0 0 2 1 0.999070 13 550 0 148 2 0 0 0 0 148 2 -2.593863 1 1 0 0 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.220000 0.100000 1.000000 0.190000 0.396413 0.220000 0 1.500000e-01 1 TEKT4 150483 broad.mit.edu 37 2 95541370 95541370 + Missense_Mutation SNP C C T rs112344899 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr2:95541370C>T ENST00000295201.4 + 5 1111 c.974C>T c.(973-975)gCg>gTg p.A325V AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 28 CACAACGTGGCGGCACTGAAG 0.607000 0 SO:0001583 missense ENST00000295201.4 1 1 hg19 CCDS2005.1 2 9.157509157509158E-4 0 0.0 0 0.0 1 0.0017482517482517483 1 0.0013192612137203166 . 2.496 -0.316380 0.05422 . . ENSG00000163060 ENST00000295201 T 0.02579 4.24 2.47 0.0321 0.14174 . 0.390516 0.24975 N 0.034109 T 0.01800 0.0057 N 0.26162 0.8 0.09310 N 1 B 0.30439 0.279 B 0.20577 0.03 T 0.47761 -0.9092 10 0.33940 T 0.23 -16.8492 5.7335 0.18053 0.2129:0.5766:0.2105:0.0 . 325 Q8WW24 TEKT4_HUMAN V 325 ENSP00000295201:A325V ENSP00000295201:A325V A + 2 0 TEKT4 94905097 0.000000 0.05858 0.005000 0.12908 0.015000 0.08874 -0.696000 0.05104 0.323000 0.23307 0.465000 0.42564 GCG TCGA-HZ-A77Q-01A-11D-A36O-08 TEKT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252777.1 1 0 1 33 279 0 116 0 0 0 0 116 2 0 0 0 0 0 2 1 1.000000 33 274 0 115 2 0 0 0 0 116 2 -3.075758 1 1 121412 18 44 1 1 2 3 2.135298 1 0.230000 1.890000 0.267085 0.990000 0.700000 1.000000 1.000000 0.943844 0.990000 1 8.400000e-01 1 TBC1D23 55773 broad.mit.edu 37 3 100039700 100039700 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:100039700C>A ENST00000394144.4 + 18 1910 c.1903C>A c.(1903-1905)Cga>Aga p.R635R TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 25 TATACAGTCTCGACAAGCGCT 0.353000 0 SO:0001819 synonymous_variant ENST00000394144.4 0 1 hg19 CCDS56265.1 TCGA-HZ-A77Q-01A-11D-A36O-08 TBC1D23-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000353150.1 0 0 0 9 426 0 86 0 2.009575e-01 0 36 0 86 2 0 0 0 0 0 2 1 0.994142 8 424 0 86 2 0 0 0 0 86 2 -2.910006 1 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.180000 0.080000 0.320000 0.180000 0.196989 0.180000 0 1.300000e-01 2.600000e-01 DZIP3 9666 broad.mit.edu 37 3 108353719 108353719 + Splice_Site SNP G G C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:108353719G>C ENST00000361582.3 + 10 1048 c.818G>C c.(817-819)gGa>gCa p.G273A DZIP3_ENST00000463306.1_Splice_Site_p.G273A NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 45 TTTTTCCAGGGATTTTTTCAG 0.254000 0 SO:0001630 splice_region_variant ENST00000361582.3 0 1 hg19 CCDS2952.1 . . . . . . . . . . g 15.78 2.934030 0.52866 . . ENSG00000198919 ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306 T;T;T 0.44881 0.91;0.91;0.91 5.08 5.08 0.68730 . 0.000000 0.51477 D 0.000098 T 0.30885 0.0779 N 0.19112 0.55 0.39140 D 0.96201 P 0.38020 0.615 B 0.37480 0.251 T 0.33111 -0.9881 10 0.87932 D 0 -15.8714 13.8419 0.63444 0.0:0.0:1.0:0.0 . 273 Q86Y13 DZIP3_HUMAN A 273 ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A ENSP00000355028:G273A G + 2 0 DZIP3 109836409 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.216000 0.58540 2.617000 0.88574 0.637000 0.83480 GGA TCGA-HZ-A77Q-01A-11D-A36O-08 DZIP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353968.1 0 0 0 13 320 0 75 0 1.821968e-03 0 2 0 75 2 0 0 0 0 0 2 1 0.999522 13 316 0 75 2 0 0 0 0 75 2 -4.192802 1 0 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.340000 0.190000 0.550000 0.340000 0.358894 0.340000 0 2.600000e-01 4.500000e-01 GATA2 2624 broad.mit.edu 37 3 128200016 128200016 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:128200016G>T ENST00000341105.2 - 6 1620 c.1289C>A c.(1288-1290)gCa>gAa p.A430E GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 79 CAGGGCAGCTGCACTGAAGGG 0.612000 Mis AML(CML blast transformation) Dom yes 3 3q21.3 2624 GATA binding protein 2 L 0 SO:0001583 missense ENST00000341105.2 1 1 hg19 CCDS3049.1 . . . . . . . . . . G 15.48 2.846692 0.51164 . . ENSG00000179348 ENST00000341105;ENST00000430265;ENST00000487848 D;D;D 0.97303 -4.33;-4.32;-4.33 4.77 4.77 0.60923 . 0.238659 0.42294 D 0.000725 D 0.94202 0.8139 L 0.29908 0.895 0.50039 D 0.999841 P;B 0.36535 0.557;0.049 B;B 0.36845 0.234;0.044 D 0.93760 0.7066 10 0.36615 T 0.2 -15.2932 18.1584 0.89701 0.0:0.0:1.0:0.0 . 416;430 P23769-2;P23769 .;GATA2_HUMAN E 430;416;430 ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E ENSP00000345681:A430E A - 2 0 GATA2 129682706 1.000000 0.71417 0.603000 0.28903 0.746000 0.42486 3.841000 0.55850 2.355000 0.79922 0.491000 0.48974 GCA TCGA-HZ-A77Q-01A-11D-A36O-08 GATA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356925.1 1 0 0 29 285 0 79 0 5.712663e-01 1 19 0 79 2 0 0 0 0 0 2 1 1.000000 29 279 0 78 2 0 0 0 0 79 2 -10.373710 1 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.800000 0.550000 1.000000 1.000000 0.806977 0.800000 0 6.600000e-01 9.500000e-01 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 PLXND1/TMCC1(4) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 0 SO:0001583 missense ENST00000393238.3 0 1 hg19 CCDS33855.1 . . . . . . . . . . T 20.6 4.009576 0.75046 . . ENSG00000172765 ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333 T;T;T;T 0.50001 0.76;0.76;0.76;0.76 5.16 5.16 0.70880 . 0.000000 0.85682 D 0.000000 T 0.61261 0.2333 L 0.46614 1.455 0.80722 D 1 D;D 0.67145 0.996;0.985 D;D 0.85130 0.997;0.973 T 0.58278 -0.7664 10 0.33940 T 0.23 -18.4911 15.1509 0.72696 0.0:0.0:0.0:1.0 . 386;565 B4DE04;O94876 .;TMCC1_HUMAN L 241;565;451;386 ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L ENSP00000327349:Q386L Q - 2 0 TMCC1 130853282 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.735000 0.84939 2.172000 0.68678 0.533000 0.62120 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356418.2 0 0 0 8 315 1 99 0 1.273846e-01 0 22 1 99 2 0 0 0 1 0 0 2 1 0.988767 3 313 0 104 2 0 0 0 1 99 2 -2.148358 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.220000 0.100000 0.400000 0.210000 0.237742 0.220000 0 1.500000e-01 3.100000e-01 TRIM42 287015 broad.mit.edu 37 3 140401487 140401487 + Silent SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:140401487G>A ENST00000286349.3 + 2 716 c.525G>A c.(523-525)aaG>aaA p.K175K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 69 AGCTGCAGAAGCACGCCGAGG 0.607000 0 SO:0001819 synonymous_variant ENST00000286349.3 1 1 hg19 CCDS3113.1 TCGA-HZ-A77Q-01A-11D-A36O-08 TRIM42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359531.2 1 0 0 43 349 0 126 0 0 0 0 126 2 1 1 183 1240 0 1155 2 1 1.000000 42 345 0 126 2 0 0 0 0 126 2 -20.000000 1 1 121412 3 39 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.940000 0.700000 1.000000 1.000000 0.923056 0.940000 1 8.100000e-01 1 TRIM42 287015 broad.mit.edu 37 3 140401695 140401695 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:140401695C>T ENST00000286349.3 + 2 924 c.733C>T c.(733-735)Cgc>Tgc p.R245C NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 p.R245C(1) 69 CCGCAACAAGCGCATCGCTTA 0.617000 1 Substitution - Missense(1) SO:0001583 missense ENST00000286349.3 1 1 hg19 CCDS3113.1 . . . . . . . . . . C 11.19 1.565527 0.27915 . . ENSG00000155890 ENST00000286349 T 0.40476 1.03 5.2 3.2 0.36748 . 0.322034 0.24884 N 0.034840 T 0.39118 0.1066 L 0.43152 1.355 0.09310 N 0.999999 D 0.71674 0.998 P 0.47528 0.549 T 0.26467 -1.0102 10 0.87932 D 0 -34.1415 9.6896 0.40120 0.4607:0.5393:0.0:0.0 . 245 Q8IWZ5 TRI42_HUMAN C 245 ENSP00000286349:R245C ENSP00000286349:R245C R + 1 0 TRIM42 141884385 0.002000 0.14202 0.157000 0.22605 0.010000 0.07245 1.370000 0.34238 1.193000 0.43086 0.561000 0.74099 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 TRIM42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359531.2 1 0 1 42 353 0 109 0 0 0 0 109 2 1 1 126 996 2 948 9 1 1.000000 42 345 0 109 2 0 0 0 0 109 2 -15.457470 1 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.910000 0.670000 1.000000 1.000000 0.904632 0.910000 1 7.900000e-01 1 MFN1 55669 broad.mit.edu 37 3 179083014 179083014 + Splice_Site SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:179083014G>A ENST00000471841.1 + 7 879 c.e7+1 MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TATGGAAGACGTAAGTTGTTA 0.318000 0 SO:0001630 splice_region_variant ENST00000471841.1 1 1 hg19 CCDS3228.1 . . . . . . . . . . G 23.1 4.372164 0.82573 . . ENSG00000171109 ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903 . . . 5.66 5.66 0.87406 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.7394 0.96219 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MFN1 180565708 1.000000 0.71417 1.000000 0.80357 0.881000 0.50899 9.414000 0.97362 2.649000 0.89929 0.563000 0.77884 . TCGA-HZ-A77Q-01A-11D-A36O-08 MFN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348654.2 1 0 1 30 202 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 1.000000 30 196 0 47 2 0 0 0 0 47 2 -3.320067 1 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.990000 0.780000 1.000000 1.000000 0.975248 0.990000 1 9.300000e-01 1 MCF2L2 23101 broad.mit.edu 37 3 182910813 182910813 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:182910813G>T ENST00000328913.3 - 27 3287 c.2990C>A c.(2989-2991)cCg>cAg p.P997Q MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GCTGGAGGCCGGGTCTTCCTT 0.493000 0 SO:0001583 missense ENST00000328913.3 0 1 hg19 CCDS3243.1 . . . . . . . . . . G 11.17 1.558511 0.27827 . . ENSG00000053524 ENST00000328913;ENST00000473233 T;T 0.01787 4.64;4.65 2.97 2.97 0.34412 . 1.214100 0.06023 N 0.651619 T 0.02455 0.0075 N 0.19112 0.55 0.31814 N 0.626829 D 0.53619 0.961 P 0.48454 0.578 T 0.46965 -0.9153 10 0.27785 T 0.31 . 9.6801 0.40065 0.0:0.0:1.0:0.0 . 997 Q86YR7 MF2L2_HUMAN Q 997 ENSP00000328118:P997Q;ENSP00000420070:P997Q ENSP00000328118:P997Q P - 2 0 MCF2L2 184393507 0.000000 0.05858 0.091000 0.20842 0.066000 0.16364 0.072000 0.14617 1.953000 0.56701 0.467000 0.42956 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 MCF2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350868.1 0 0 0 8 522 0 154 0 0 0 0 154 2 0 0 0 0 0 2 1 0.988346 8 509 0 152 2 0 0 0 0 154 2 -2.015104 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.130000 0.060000 0.250000 0.130000 0.145833 0.130000 0 9.000000e-02 1.900000e-01 KLHL24 54800 broad.mit.edu 37 3 183388894 183388894 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:183388894C>A ENST00000454652.2 + 7 1683 c.1297C>A c.(1297-1299)Cga>Aga p.R433R KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTTTTCAAATCGATGGACTGA 0.418000 0 SO:0001819 synonymous_variant ENST00000454652.2 0 1 hg19 CCDS3246.1 TCGA-HZ-A77Q-01A-11D-A36O-08 KLHL24-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346586.2 0 0 0 10 663 0 198 0 4.759266e-02 0 21 0 198 2 0 0 0 0 0 2 1 0.996589 9 652 0 197 2 0 0 0 0 198 2 -2.333631 0 1 121412 1 37 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.130000 0.060000 0.230000 0.130000 0.140670 0.130000 0 9.000000e-02 1.800000e-01 YEATS2 55689 broad.mit.edu 37 3 183479340 183479340 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:183479340G>T ENST00000305135.5 + 14 1897 c.1702G>T c.(1702-1704)Ggg>Tgg p.G568W NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 p.G568W(1) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTGCCCAATTGGGAGTCACCC 0.408000 1 Substitution - Missense(1) SO:0001583 missense ENST00000305135.5 0 1 hg19 CCDS43175.1 . . . . . . . . . . G 23.2 4.393441 0.83011 . . ENSG00000163872 ENST00000421660;ENST00000305135 T 0.30714 1.52 6.03 6.03 0.97812 . 0.361792 0.27691 N 0.018248 T 0.47248 0.1435 L 0.27053 0.805 0.49687 D 0.999813 D 0.89917 1.0 D 0.97110 1.0 T 0.43925 -0.9361 10 0.87932 D 0 -17.9952 20.5666 0.99351 0.0:0.0:1.0:0.0 . 568 Q9ULM3 YETS2_HUMAN W 568 ENSP00000306983:G568W ENSP00000306983:G568W G + 1 0 YEATS2 184962034 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.120000 0.77153 2.854000 0.98071 0.655000 0.94253 GGG TCGA-HZ-A77Q-01A-11D-A36O-08 YEATS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346507.2 0 0 0 10 758 0 172 0 2.278174e-02 0 16 0 172 2 0 0 0 0 0 2 1 0.996642 10 747 0 172 2 0 0 0 0 172 2 -1.879989 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.110000 0.050000 0.200000 0.120000 0.123391 0.110000 0 8.000000e-02 1.600000e-01 SLC4A7 9497 broad.mit.edu 37 3 27439802 27439802 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:27439802C>A ENST00000295736.5 - 17 2513 c.2443G>T c.(2443-2445)Ggt>Tgt p.G815C SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 38 Sodium bicarbonate(DB01390) CCATGATGACCACAAGCTGAC 0.363000 0 SO:0001583 missense ENST00000295736.5 0 1 hg19 CCDS33721.1 . . . . . . . . . . C 19.69 3.874189 0.72180 . . ENSG00000033867 ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179 T;T;T;T;T;T;T;T;T;T;T;T 0.79454 -1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27 5.71 0.654 0.17833 Bicarbonate transporter, C-terminal (1); 0.319899 0.37483 N 0.002069 D 0.87406 0.6169 M 0.88704 2.975 0.80722 D 1 D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998 D;D;D;D;D;D;D;D;D 0.87578 0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979 D 0.85536 0.1212 10 0.66056 D 0.02 . 9.6876 0.40109 0.0:0.6546:0.0:0.3454 . 811;696;807;811;824;365;691;815;696 E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53 .;.;.;.;.;.;.;S4A7_HUMAN;. C 366;815;691;824;811;696;807;696;811;700;365;711 ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C ENSP00000295736:G815C G - 1 0 SLC4A7 27414806 0.989000 0.36119 0.287000 0.24848 0.950000 0.60333 0.479000 0.22228 -0.163000 0.10946 0.563000 0.77884 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 SLC4A7-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000341230.2 0 0 0 8 496 0 113 0 2.338044e-02 0 13 0 113 2 0 0 0 0 0 2 1 0.988856 8 489 0 112 2 0 0 0 0 113 2 -2.469831 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.140000 0.060000 0.260000 0.140000 0.153276 0.140000 0 9.000000e-02 2.000000e-01 ZNF502 91392 broad.mit.edu 37 3 44763222 44763222 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:44763222C>A ENST00000296091.4 + 4 1169 c.913C>A c.(913-915)Cga>Aga p.R305R ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 19 CTCTTCTTTTCGAAAACACTC 0.408000 0 SO:0001819 synonymous_variant ENST00000296091.4 0 1 hg19 CCDS2719.1 . . . . . . . . . . C 4.294 0.053853 0.08291 . . ENSG00000196653 ENST00000427783 . . . 4.27 -0.248 0.13015 . . . . . T 0.39545 0.1082 . . . 0.09310 N 0.999997 . . . . . . T 0.40478 -0.9561 5 0.87932 D 0 -0.978 6.8198 0.23851 0.4135:0.3026:0.2839:0.0 . . . . L 304 . ENSP00000397812:F304L F + 3 2 ZNF502 44738226 0.547000 0.26465 0.305000 0.25099 0.935000 0.57460 2.045000 0.41250 0.132000 0.18615 0.655000 0.94253 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 ZNF502-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256744.4 0 0 0 14 864 0 213 0 1.257250e-02 0 10 0 213 2 0 0 0 0 0 2 1 0.999720 14 849 0 210 2 0 0 0 0 213 2 -2.321300 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.130000 0.070000 0.220000 0.140000 0.147310 0.130000 0 1.000000e-01 1.800000e-01 XCR1 2829 broad.mit.edu 37 3 46062772 46062772 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:46062772G>A ENST00000309285.3 - 2 1024 c.668C>T c.(667-669)aCg>aTg p.T223M XCR1_ENST00000542109.1_Missense_Mutation_p.T223M NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 14 GAGCTTGACCGTGCGGTGGCG 0.582000 0 SO:0001583 missense ENST00000309285.3 1 1 hg19 CCDS2736.1 . . . . . . . . . . G 17.44 3.391139 0.62066 . . ENSG00000173578 ENST00000309285;ENST00000542109 T;T 0.38887 1.11;1.11 5.72 5.72 0.89469 GPCR, rhodopsin-like superfamily (1); 0.109301 0.64402 D 0.000006 T 0.72415 0.3457 M 0.88450 2.955 0.48571 D 0.999674 D 0.89917 1.0 D 0.85130 0.997 T 0.77135 -0.2699 10 0.87932 D 0 . 19.877 0.96880 0.0:0.0:1.0:0.0 . 223 P46094 XCR1_HUMAN M 223 ENSP00000310405:T223M;ENSP00000438119:T223M ENSP00000310405:T223M T - 2 0 XCR1 46037776 1.000000 0.71417 0.542000 0.28115 0.351000 0.29236 7.903000 0.87398 2.696000 0.92011 0.650000 0.86243 ACG TCGA-HZ-A77Q-01A-11D-A36O-08 XCR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257322.2 1 0 1 21 200 0 53 0 0 0 1 0 53 2 0 0 0 0 0 2 1 0.999998 21 199 0 51 2 0 0 0 0 53 2 -20.000000 1 0 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.820000 0.530000 1.000000 1.000000 0.824297 0.820000 0 6.600000e-01 1 RBM6 10180 broad.mit.edu 37 3 50091792 50091792 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:50091792C>A ENST00000266022.4 + 8 1916 c.1657C>A c.(1657-1659)Cga>Aga p.R553R RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000443081.1_Silent_p.R421R NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 p.R553R(1) 33 TGGTGGGCACCGATCTTCCTG 0.378000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000266022.4 0 1 hg19 CCDS2809.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RBM6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345528.4 0 0 0 8 798 0 208 0 2.336225e-01 0 82 0 208 2 0 0 0 0 0 2 1 0.987946 7 774 0 208 2 0 0 0 0 208 2 -1.706342 0 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.080000 0.030000 0.160000 0.080000 0.096229 0.080000 0 5.000000e-02 1.300000e-01 FLNB 2317 broad.mit.edu 37 3 58108948 58108948 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr3:58108948C>A ENST00000295956.4 + 21 3420 c.3255C>A c.(3253-3255)atC>atA p.I1085I FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000348383.5_Silent_p.I1085I NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 120 AGGCCAAAATCGAGTGCTCCG 0.552000 0 SO:0001819 synonymous_variant ENST00000295956.4 0 1 hg19 CCDS2885.1 TCGA-HZ-A77Q-01A-11D-A36O-08 FLNB-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000353569.1 0 0 0 9 548 1 134 0 8.977713e-02 0 89 1 134 4 0 0 0 0 0 2 0 0.139725 8 538 1 133 15 0 0 0 1 134 2 -2.753785 1 1 0 0 1 0 1 1 2.025108 0 0.230000 1.890000 0.228225 0.140000 0.060000 0.250000 0.140000 0.154258 0.140000 0 1.000000e-01 2.000000e-01 DNAJB14 79982 broad.mit.edu 37 4 100851701 100851701 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:100851701C>A ENST00000442697.2 - 2 365 c.211G>T c.(211-213)Gat>Tat p.D71Y DNAJB14_ENST00000471738.1_5'UTR NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 5 TTGCTTTGATCGCCACTACCT 0.428000 0 SO:0001583 missense ENST00000442697.2 0 1 hg19 CCDS34035.1 . . . . . . . . . . C 14.33 2.503702 0.44558 . . ENSG00000164031 ENST00000442697 T 0.64618 -0.11 5.7 5.7 0.88788 . 0.212421 0.39020 N 0.001489 T 0.56217 0.1970 L 0.36672 1.1 0.23243 N 0.998052 B 0.12630 0.006 B 0.10450 0.005 T 0.53056 -0.8492 10 0.62326 D 0.03 . 18.0119 0.89226 0.0:1.0:0.0:0.0 . 71 Q8TBM8 DJB14_HUMAN Y 71 ENSP00000404381:D71Y ENSP00000404381:D71Y D - 1 0 DNAJB14 101070724 0.983000 0.35010 0.037000 0.18230 0.890000 0.51754 2.588000 0.46137 2.675000 0.91044 0.655000 0.94253 GAT TCGA-HZ-A77Q-01A-11D-A36O-08 DNAJB14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253696.2 0 0 0 10 691 0 182 0 8.226436e-02 0 30 0 182 2 0 0 0 0 0 2 1 0.996721 13 680 0 181 2 0 0 0 0 182 2 -2.190849 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.120000 0.060000 0.220000 0.120000 0.135094 0.120000 0 8.000000e-02 1.700000e-01 ANK2 287 broad.mit.edu 37 4 114274328 114274328 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:114274328C>A ENST00000357077.4 + 38 4607 c.4554C>A c.(4552-4554)acC>acA p.T1518T ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) TCAAAATGACCGCCATCTTGA 0.458000 0 SO:0001819 synonymous_variant ENST00000357077.4 0 1 hg19 CCDS3702.1 TCGA-HZ-A77Q-01A-11D-A36O-08 ANK2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256422.2 0 0 0 9 523 0 133 0 0 0 0 133 2 0 0 0 0 0 2 1 0.993829 8 516 0 133 2 0 0 0 0 133 2 -2.472408 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.150000 0.070000 0.270000 0.140000 0.161434 0.150000 0 1.000000e-01 2.100000e-01 USP53 54532 broad.mit.edu 37 4 120214304 120214304 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:120214304C>A ENST00000274030.6 + 19 4339 c.3160C>A c.(3160-3162)Cat>Aat p.H1054N USP53_ENST00000450251.1_Missense_Mutation_p.H1054N NM_019050.2 NP_061923.2 ubiquitin specific peptidase 53 27 ATTGAAATACCATCAGAGGCC 0.363000 0 SO:0001583 missense ENST00000274030.6 0 1 hg19 CCDS43265.1 . . . . . . . . . . C 17.31 3.357258 0.61293 . . ENSG00000145390 ENST00000274030;ENST00000450251 T;T 0.53857 0.6;0.6 5.89 4.16 0.48862 . 0.078821 0.53938 D 0.000049 T 0.49626 0.1568 M 0.66939 2.045 0.27596 N 0.949139 P 0.48764 0.915 B 0.40165 0.321 T 0.55730 -0.8095 10 0.87932 D 0 -14.5865 11.5943 0.50964 0.0:0.8585:0.0:0.1415 . 1054 Q70EK8 UBP53_HUMAN N 1054 ENSP00000274030:H1054N;ENSP00000409906:H1054N ENSP00000274030:H1054N H + 1 0 USP53 120433752 1.000000 0.71417 1.000000 0.80357 0.694000 0.40290 2.876000 0.48498 1.502000 0.48669 0.585000 0.79938 CAT TCGA-HZ-A77Q-01A-11D-A36O-08 USP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364564.2 0 0 0 9 438 1 77 0 4.015073e-02 0 14 1 77 2 0 0 0 0 0 2 0 0.038519 10 433 1 76 19 0 0 0 1 77 2 -4.092103 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.180000 0.080000 0.310000 0.170000 0.191764 0.180000 0 1.200000e-01 2.500000e-01 FAT4 79633 broad.mit.edu 37 4 126337730 126337730 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:126337730G>T ENST00000394329.3 + 6 6984 c.6971G>T c.(6970-6972)cGg>cTg p.R2324L FAT4_ENST00000335110.5_Missense_Mutation_p.R622L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 p.R2324Q(2) 355 AGTCTGGATCGGGAAACAAAA 0.418000 2 Substitution - Missense(2) SO:0001583 missense ENST00000394329.3 0 1 hg19 CCDS3732.3 . . . . . . . . . . G 19.54 3.847652 0.71603 . . ENSG00000196159 ENST00000394329;ENST00000335110 T;T 0.01599 4.74;4.74 5.33 5.33 0.75918 Cadherin (4);Cadherin-like (1); 0.000000 0.32106 U 0.006577 T 0.11196 0.0273 M 0.80847 2.515 0.58432 D 0.999999 D;D 0.89917 0.991;1.0 D;D 0.69479 0.942;0.964 T 0.02789 -1.1110 10 0.37606 T 0.19 . 19.0466 0.93022 0.0:0.0:1.0:0.0 . 622;2324 Q6V0I7-2;Q6V0I7 .;FAT4_HUMAN L 2324;622 ENSP00000377862:R2324L;ENSP00000335169:R622L ENSP00000335169:R622L R + 2 0 FAT4 126557180 1.000000 0.71417 0.989000 0.46669 0.080000 0.17528 9.657000 0.98554 2.493000 0.84123 0.637000 0.83480 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 0 0 0 9 634 1 180 0 1.535699e-03 0 4 1 180 2 0 0 0 0 0 2 0 0.189794 9 625 1 178 14 0 0 0 1 180 2 -1.935648 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.120000 0.050000 0.220000 0.120000 0.133798 0.120000 0 8.000000e-02 1.700000e-01 PCDH18 54510 broad.mit.edu 37 4 138451498 138451498 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:138451498C>T ENST00000344876.4 - 1 2131 c.1745G>A c.(1744-1746)cGt>cAt p.R582H PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 p.R582H(2) 86 all_hematologic(180;0.24) CGTATTATTACGCAATGCAGG 0.463000 2 Substitution - Missense(2) SO:0001583 missense ENST00000344876.4 1 1 hg19 CCDS34064.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 3.828 -0.036444 0.07497 0.0 1.16E-4 ENSG00000189184 ENST00000344876;ENST00000412923;ENST00000507846 T;T;T 0.55413 0.61;0.62;0.52 5.93 4.05 0.47172 Cadherin (2);Cadherin-like (1); 0.321942 0.22435 N 0.060092 T 0.29093 0.0723 N 0.05199 -0.095 0.80722 D 1 B;B;B 0.06786 0.0;0.001;0.0 B;B;B 0.06405 0.0;0.002;0.001 T 0.04752 -1.0929 10 0.42905 T 0.14 . 7.9972 0.30275 0.0:0.5295:0.0:0.4705 . 362;582;582 D6RIG4;Q9HCL0-2;Q9HCL0 .;.;PCD18_HUMAN H 582;582;362 ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H ENSP00000355082:R582H R - 2 0 PCDH18 138670948 1.000000 0.71417 0.067000 0.19924 0.245000 0.25701 1.744000 0.38268 0.679000 0.31345 0.563000 0.77884 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 PCDH18-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364614.1 1 0 1 98 753 0 264 0 1.474198e-01 0 6 0 264 2 0 0 0 0 0 2 1 1.000000 98 739 0 257 2 0 0 0 0 264 2 -20.000000 1 1 121412 30 52 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.990000 0.810000 1.000000 1.000000 0.963607 0.990000 1 9.000000e-01 1 POU4F2 5458 broad.mit.edu 37 4 147560372 147560372 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:147560372C>T ENST00000281321.3 + 1 328 c.80C>T c.(79-81)tCg>tTg p.S27L AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 33 all_hematologic(180;0.151) CCCAAGTACTCGGCACTGCAC 0.706000 0 SO:0001583 missense ENST00000281321.3 0 1 hg19 CCDS34074.1 . . . . . . . . . . C 23.6 4.437096 0.83885 . . ENSG00000151615 ENST00000281321 T 0.35048 1.33 4.77 4.77 0.60923 . 1.187410 0.06496 N 0.735449 T 0.48519 0.1504 L 0.27053 0.805 0.58432 D 0.999999 D 0.58620 0.983 P 0.61201 0.885 T 0.18650 -1.0330 10 0.42905 T 0.14 . 15.2933 0.73882 0.0:1.0:0.0:0.0 . 27 Q12837 PO4F2_HUMAN L 27 ENSP00000281321:S27L ENSP00000281321:S27L S + 2 0 POU4F2 147779822 1.000000 0.71417 0.999000 0.59377 0.979000 0.70002 7.301000 0.78850 2.189000 0.69895 0.561000 0.74099 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 POU4F2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367020.1 0 0 0 6 77 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 0.964209 5 76 0 37 2 0 0 0 0 37 2 -3.325037 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.650000 0.270000 1.000000 1.000000 0.668696 0.650000 0 4.300000e-01 9.200000e-01 RAPGEF2 9693 broad.mit.edu 37 4 160251634 160251634 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:160251634C>A ENST00000264431.4 + 7 1387 c.968C>A c.(967-969)cCg>cAg p.P323Q NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 70 all_hematologic(180;0.24) TTTAATGACCCGAGCCTCAGG 0.343000 0 SO:0001583 missense ENST00000264431.4 0 1 hg19 CCDS43277.1 . . . . . . . . . . C 22.2 4.260007 0.80246 . . ENSG00000109756 ENST00000264431 T 0.51071 0.72 5.78 5.78 0.91487 Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3); 0.000000 0.85682 D 0.000000 T 0.54382 0.1855 L 0.46819 1.47 0.80722 D 1 B 0.32829 0.386 B 0.43413 0.419 T 0.45483 -0.9258 10 0.37606 T 0.19 . 20.3668 0.98882 0.0:1.0:0.0:0.0 . 323 Q9Y4G8 RPGF2_HUMAN Q 323 ENSP00000264431:P323Q ENSP00000264431:P323Q P + 2 0 RAPGEF2 160471084 1.000000 0.71417 1.000000 0.80357 1.000000 0.99986 4.825000 0.62708 2.894000 0.99253 0.655000 0.94253 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 RAPGEF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364980.2 0 0 0 11 537 1 126 0 4.350460e-02 0 15 1 126 2 0 0 0 0 0 2 0 0.204056 13 526 1 124 16 0 0 0 1 126 2 -2.041205 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.170000 0.090000 0.300000 0.170000 0.188122 0.170000 0 1.200000e-01 2.400000e-01 FAM53A 152877 broad.mit.edu 37 4 1656790 1656790 + Missense_Mutation SNP C C G TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:1656790C>G ENST00000308132.6 - 4 989 c.797G>C c.(796-798)aGt>aCt p.S266T FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CCTCTTCCCACTGAGCACGCA 0.677000 0 SO:0001583 missense ENST00000308132.6 1 1 hg19 CCDS33939.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 7.723|7.723 0.697617|0.697617 0.15106|0.15106 .|. .|. ENSG00000174137|ENSG00000174137 ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029 T;T;T;T|. 0.43294|. 0.95;0.95;0.95;0.95|. 4.51|4.51 -5.78|-5.78 0.02362|0.02362 .|. 0.662582|. 0.12351|. N|. 0.476531|. T|T 0.27629|0.27629 0.0679|0.0679 L|L 0.36672|0.36672 1.1|1.1 0.09310|0.09310 N|N 1|1 B;P|. 0.34757|. 0.372;0.467|. B;B|. 0.32677|. 0.15;0.105|. T|T 0.30179|0.30179 -0.9987|-0.9987 10|5 0.66056|. D|. 0.02|. -26.8945|-26.8945 4.7646|4.7646 0.13127|0.13127 0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649 .|. 266;266|. Q6NSI3;C9JYQ7|. FA53A_HUMAN;.|. T|L 266|116 ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|. ENSP00000310057:S266T|. S|V -|- 2|1 0|0 FAM53A|FAM53A 1626587|1626587 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.064000|0.064000 0.16182|0.16182 0.666000|0.666000 0.25097|0.25097 -1.332000|-1.332000 0.02249|0.02249 0.563000|0.563000 0.77884|0.77884 AGT|GTG TCGA-HZ-A77Q-01A-11D-A36O-08 FAM53A-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359224.1 1 0 0 17 123 0 36 0 0 0 1 0 36 2 0 0 0 0 0 2 1 0.999965 17 117 0 34 2 0 0 0 0 36 2 -20.000000 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.990000 0.650000 1.000000 1.000000 0.940481 0.990000 1 8.300000e-01 1 CPE 1363 broad.mit.edu 37 4 166418743 166418743 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:166418743C>A ENST00000402744.4 + 9 1692 c.1412C>A c.(1411-1413)tCa>tAa p.S471* NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) """Insulin(DB00071)|Insulin Regular(DB00030)" AAAATGATGTCAGAAACTTTA 0.303000 0 SO:0001587 stop_gained ENST00000402744.4 0 1 hg19 CCDS3810.1 . . . . . . . . . . C 39 7.734767 0.98459 . . ENSG00000109472 ENST00000402744 . . . 6.08 6.08 0.98989 . 0.158173 0.44688 D 0.000421 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -6.7725 20.6647 0.99678 0.0:1.0:0.0:0.0 . . . . X 471 . ENSP00000386104:S471X S + 2 0 CPE 166638193 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 6.891000 0.75639 2.890000 0.99128 0.655000 0.94253 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 CPE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317094.2 0 0 0 9 240 0 41 0 9.997680e-01 1 446 0 41 2 0 0 0 0 0 2 1 0.993805 9 234 0 40 2 0 0 0 0 41 2 -3.024748 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.320000 0.150000 0.550000 0.300000 0.340968 0.320000 0 2.300000e-01 4.400000e-01 GRK4 2868 broad.mit.edu 37 4 3030990 3030990 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:3030990C>A ENST00000398052.4 + 12 1466 c.1123C>A c.(1123-1125)Ctg>Atg p.L375M GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000398051.4_Missense_Mutation_p.L343M NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 2 ACTTGGCTGTCTGATCTATGA 0.368000 0 SO:0001583 missense ENST00000398052.4 0 1 hg19 CCDS33946.1 . . . . . . . . . . C 17.17 3.321713 0.60634 . . ENSG00000125388 ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933 T;T;T;T 0.27104 1.69;1.69;1.69;1.69 5.21 3.38 0.38709 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.64402 U 0.000015 T 0.26738 0.0654 N 0.11724 0.165 0.80722 D 1 D;D;D;D 0.89917 1.0;0.999;0.992;1.0 D;D;D;D 0.97110 1.0;0.989;0.949;1.0 T 0.12578 -1.0542 10 0.62326 D 0.03 -12.6799 4.8167 0.13371 0.0:0.5828:0.1638:0.2534 . 343;343;375;375 P32298-3;P32298-2;P32298-4;P32298 .;.;.;GRK4_HUMAN M 343;375;343;375 ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M ENSP00000264764:L343M L + 1 2 GRK4 3000788 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 1.647000 0.37260 0.606000 0.29965 0.643000 0.83706 CTG TCGA-HZ-A77Q-01A-11D-A36O-08 GRK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358176.2 0 0 0 8 424 0 99 0 0 0 1 0 99 2 0 0 0 0 0 2 1 0.989104 8 420 0 99 2 0 0 0 0 99 2 -7.355640 1 0 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.160000 0.070000 0.300000 0.160000 0.178505 0.160000 0 1.100000e-01 2.300000e-01 KLHL5 51088 broad.mit.edu 37 4 39064285 39064285 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:39064285C>A ENST00000504108.1 + 1 434 c.151C>A c.(151-153)Cgt>Agt p.R51S KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S NM_015990.4 NP_057074.3 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 29 GTCTGGTTCTCGTAAAGAGTT 0.433000 0 SO:0001583 missense ENST00000504108.1 0 1 hg19 CCDS33974.1 . . . . . . . . . . C 19.10 3.761994 0.69763 . . ENSG00000109790 ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426 T;T;T;T;T 0.78364 -0.82;-0.88;-0.8;-0.82;-1.17 5.2 5.2 0.72013 . 0.086461 0.45867 D 0.000335 D 0.82724 0.5099 L 0.29908 0.895 0.58432 D 0.999997 D;P;D 0.63046 0.978;0.931;0.992 D;B;D 0.70487 0.969;0.391;0.969 D 0.84906 0.0845 10 0.87932 D 0 . 19.0941 0.93242 0.0:1.0:0.0:0.0 . 51;51;51 F8WAE7;Q96PQ7;Q96PQ7-2 .;KLHL5_HUMAN;. S 85;5;51;51;51;51 ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S ENSP00000261425:R5S R + 1 0 KLHL5 38740680 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.883000 0.56168 2.578000 0.87016 0.650000 0.86243 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 KLHL5-006 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000360604.1 0 0 0 10 717 0 208 0 6.468438e-03 0 8 0 208 2 0 0 0 0 0 2 1 0.996631 11 704 0 206 2 0 0 0 0 208 2 -1.977773 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.120000 0.050000 0.210000 0.120000 0.130298 0.120000 0 8.000000e-02 1.700000e-01 GABRA2 2555 broad.mit.edu 37 4 46305547 46305547 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:46305547G>T ENST00000510861.1 - 8 959 c.786C>A c.(784-786)atC>atA p.I262I GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 56 Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198) TGACAGTCATGATGCAAGGCA 0.388000 0 SO:0001819 synonymous_variant ENST00000510861.1 1 1 hg19 CCDS3471.1 TCGA-HZ-A77Q-01A-11D-A36O-08 GABRA2-005 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360848.2 1 0 1 51 358 0 86 0 0 0 0 86 2 0 0 0 0 0 2 1 1.000000 51 349 0 86 2 0 0 0 0 86 2 -19.840030 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.990000 0.820000 1.000000 1.000000 0.978450 0.990000 1 9.400000e-01 1 CYTL1 54360 broad.mit.edu 37 4 5016889 5016889 + Missense_Mutation SNP G G T rs137887145 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:5016889G>T ENST00000307746.4 - 4 426 c.400C>A c.(400-402)Cgt>Agt p.R134S NM_018659.2 NP_061129.1 Q9NRR1 CYTL1_HUMAN cytokine-like 1 11 TAGCGCTGACGATCTGGCAGG 0.488000 Colon(15;457 478 29696 43408 47165) 0 SO:0001583 missense ENST00000307746.4 0 1 hg19 CCDS3379.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 6.983|6.983 0.551462|0.551462 0.13374|0.13374 .|. .|. ENSG00000170891|ENSG00000170891 ENST00000307746|ENST00000506508 T|. 0.28454|. 1.61|. 4.4|4.4 1.35|1.35 0.21983|0.21983 .|. 2.772270|. 0.00864|. N|. 0.001945|. T|. 0.11793|. 0.0287|. N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 B|. 0.25609|. 0.13|. B|. 0.19946|. 0.027|. T|. 0.25537|. -1.0129|. 10|. 0.21540|. T|. 0.41|. 0.151|0.151 1.9715|1.9715 0.03407|0.03407 0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072 .|. 134|. Q9NRR1|. CYTL1_HUMAN|. S|X 134|73 ENSP00000303550:R134S|. ENSP00000303550:R134S|. R|S -|- 1|2 0|0 CYTL1|CYTL1 5067790|5067790 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.027000|0.027000 0.11550|0.11550 0.318000|0.318000 0.19504|0.19504 0.270000|0.270000 0.21984|0.21984 0.511000|0.511000 0.50034|0.50034 CGT|TCG TCGA-HZ-A77Q-01A-11D-A36O-08 CYTL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000246802.1 0 0 0 9 448 0 90 0 1.271624e-01 0 28 0 90 2 0 0 0 0 0 2 1 0.993838 9 440 0 88 2 0 0 0 0 90 2 -3.130563 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.170000 0.080000 0.310000 0.170000 0.187617 0.170000 0 1.200000e-01 2.400000e-01 EXOC1 55763 broad.mit.edu 37 4 56744167 56744167 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:56744167C>A ENST00000381295.2 + 9 1507 c.1159C>A c.(1159-1161)Cga>Aga p.R387R EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 35 Glioma(25;0.08)|all_neural(26;0.101) AGATTTGCTCCGATATGCCAA 0.393000 0 SO:0001819 synonymous_variant ENST00000381295.2 0 1 hg19 CCDS3502.1 TCGA-HZ-A77Q-01A-11D-A36O-08 EXOC1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361799.1 0 0 0 9 427 0 118 0 1.687800e-01 0 32 0 118 2 0 0 0 0 0 2 1 0.994016 8 423 0 118 2 0 0 0 0 118 2 -2.755615 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.180000 0.080000 0.320000 0.180000 0.196542 0.180000 0 1.300000e-01 2.500000e-01 EPHA5 2044 broad.mit.edu 37 4 66509135 66509135 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:66509135C>A ENST00000273854.3 - 2 792 c.192G>T c.(190-192)ttG>ttT p.L64F EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 142 TGCGTGAATCCAATAAATTCA 0.308000 TSP Lung(17;0.13) 0 SO:0001583 missense ENST00000273854.3 0 1 hg19 CCDS3513.1 . . . . . . . . . . C 18.81 3.704062 0.68615 . . ENSG00000145242 ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294 T;T;T;T 0.08370 3.1;3.1;3.1;3.1 5.52 4.45 0.53987 Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1); 0.000000 0.43747 D 0.000538 T 0.32346 0.0826 M 0.86502 2.82 0.46356 D 0.999002 D;D;D;D 0.89917 1.0;0.999;1.0;1.0 D;D;D;D 0.97110 1.0;0.989;0.999;1.0 T 0.07481 -1.0770 10 0.87932 D 0 . 13.0437 0.58915 0.0:0.8901:0.0:0.1099 . 64;64;64;64 B7ZKW7;B7ZKJ3;P54756-2;P54756 .;.;.;EPHA5_HUMAN F 64 ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F ENSP00000273854:L64F L - 3 2 EPHA5 66191730 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 3.486000 0.53215 2.753000 0.94483 0.467000 0.42956 TTG TCGA-HZ-A77Q-01A-11D-A36O-08 EPHA5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251388.2 0 0 0 8 318 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 0.988914 8 313 0 65 2 0 0 0 0 65 2 -3.072403 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.220000 0.100000 0.390000 0.210000 0.235591 0.220000 0 1.500000e-01 3.100000e-01 STAP1 26228 broad.mit.edu 37 4 68436855 68436855 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:68436855C>A ENST00000265404.2 + 2 256 c.174C>A c.(172-174)acC>acA p.T58T STAP1_ENST00000396225.1_Silent_p.T58T NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 12 TCTTTTATACCGACAAAAAGA 0.328000 0 SO:0001819 synonymous_variant ENST00000265404.2 0 1 hg19 CCDS3515.1 TCGA-HZ-A77Q-01A-11D-A36O-08 STAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251434.1 0 0 0 12 843 0 161 0 1.226381e-02 0 11 0 161 2 0 0 0 0 0 2 0 0.161993 12 824 1 160 18 0 0 0 0 161 2 -1.698856 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.120000 0.060000 0.200000 0.120000 0.131081 0.120000 0 8.000000e-02 1.700000e-01 SLC4A4 8671 broad.mit.edu 37 4 72319302 72319302 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:72319302G>T ENST00000264485.5 + 12 1530 c.1413G>T c.(1411-1413)tcG>tcT p.S471S SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000425175.1_Silent_p.S471S NM_001098484.2 NP_001091954.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) Sodium bicarbonate(DB01390) AAGCTCTTTCGGCAATTCTCT 0.413000 0 SO:0001819 synonymous_variant ENST00000264485.5 0 1 hg19 CCDS43236.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SLC4A4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362090.1 0 0 0 15 717 0 181 0 9.731872e-03 0 7 0 181 2 0 0 0 0 0 2 1 0.999849 11 707 0 179 2 0 0 0 0 181 2 -2.128214 0 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.170000 0.100000 0.280000 0.180000 0.188244 0.170000 0 1.300000e-01 2.300000e-01 AFF1 4299 broad.mit.edu 37 4 87968161 87968161 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:87968161C>T ENST00000307808.6 + 3 873 c.453C>T c.(451-453)tgC>tgT p.C151C AFF1_ENST00000395146.4_Silent_p.C158C|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) CCAAAAGCTGCGGCCCACCGG 0.567000 0 SO:0001819 synonymous_variant ENST00000307808.6 0 1 hg19 CCDS3616.1 TCGA-HZ-A77Q-01A-11D-A36O-08 AFF1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000253053.3 0 0 0 5 282 1 72 0 2.143617e-02 0 26 1 72 3 0 0 0 0 0 2 0 0.026613 5 277 1 72 14 0 0 0 1 72 2 -2.718037 1 1 121412 3 36 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.160000 0.050000 0.330000 0.150000 0.178003 0.160000 0 1.000000e-01 2.500000e-01 KLHL8 57563 broad.mit.edu 37 4 88084792 88084792 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr4:88084792C>A ENST00000273963.5 - 10 2083 c.1742G>T c.(1741-1743)tGg>tTg p.W581L KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) AACAAGCTCCCACCTGAAAAG 0.398000 0 SO:0001583 missense ENST00000273963.5 0 1 hg19 CCDS3617.1 . . . . . . . . . . C 31 5.081410 0.94050 . . ENSG00000145332 ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111 D;D;D;D;D 0.96940 -4.18;-4.18;-4.18;-4.18;-4.18 5.7 5.7 0.88788 Galactose oxidase, beta-propeller (1); 0.061501 0.64402 D 0.000001 D 0.98899 0.9627 H 0.98178 4.165 0.80722 D 1 P;D;D 0.65815 0.896;0.986;0.995 P;P;D 0.67548 0.673;0.907;0.952 D 0.99437 1.0937 10 0.87932 D 0 . 18.0017 0.89199 0.0:1.0:0.0:0.0 . 398;505;581 Q68DU9;Q6N018;Q9P2G9 .;.;KLHL8_HUMAN L 581;505;398;230;581 ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L ENSP00000273963:W581L W - 2 0 KLHL8 88303816 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 7.476000 0.81055 2.693000 0.91896 0.467000 0.42956 TGG TCGA-HZ-A77Q-01A-11D-A36O-08 KLHL8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253040.1 0 0 0 9 305 1 82 0 6.486426e-02 0 13 1 82 2 0 0 0 0 0 2 1 0.993877 9 300 0 79 2 0 0 0 1 82 2 -2.551533 1 1 0 0 1 0 1 1 2.025548 0 0.230000 1.890000 0.228225 0.250000 0.120000 0.440000 0.250000 0.271600 0.250000 0 1.800000e-01 3.500000e-01 FBN2 2201 broad.mit.edu 37 5 127730895 127730895 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:127730895G>A ENST00000508053.1 - 15 2125 c.1151C>T c.(1150-1152)aCg>aTg p.T384M FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M P35556 FBN2_HUMAN fibrillin 2 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) CTGCATTTTCGTCATTCTCCC 0.542000 0 SO:0001583 missense ENST00000508053.1 1 1 hg19 CCDS34222.1 . . . . . . . . . . G 15.64 2.892566 0.52121 0.0 1.16E-4 ENSG00000138829 ENST00000262464;ENST00000508053;ENST00000508989 D;D;D 0.95412 -3.7;-3.7;-3.7 4.44 4.44 0.53790 Matrix fibril-associated (3);TGF-beta binding (1); 0.176842 0.36303 N 0.002669 D 0.97586 0.9209 M 0.86502 2.82 0.42420 D 0.992637 D;D 0.71674 0.998;0.984 P;P 0.60345 0.873;0.739 D 0.98218 1.0476 10 0.66056 D 0.02 . 18.389 0.90475 0.0:0.0:1.0:0.0 . 351;384 D6RJI3;P35556 .;FBN2_HUMAN M 384;384;351 ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M ENSP00000262464:T384M T - 2 0 FBN2 127758794 1.000000 0.71417 0.959000 0.39883 0.816000 0.46133 5.699000 0.68310 2.750000 0.94351 0.655000 0.94253 ACG TCGA-HZ-A77Q-01A-11D-A36O-08 FBN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371618.2 1 0 1 23 165 0 41 0 1.636126e-02 0 2 0 41 2 0 0 0 0 0 2 1 0.999999 23 160 0 41 2 0 0 0 0 41 2 -20.000000 1 1 121412 1 27 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.990000 0.700000 1.000000 1.000000 0.954747 0.990000 1 8.700000e-01 1 ACSL6 23305 broad.mit.edu 37 5 131323807 131323807 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:131323807G>T ENST00000379240.1 - 7 843 c.690C>A c.(688-690)ttC>ttA p.F230L ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGCTTCTTCGAATGGGTCCA 0.562000 0 SO:0001583 missense ENST00000379240.1 0 1 hg19 . . . . . . . . . . g 7.687 0.690340 0.15039 . . ENSG00000164398 ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099 T;T;T;T;T;T;T;T;T;T;T;T;T 0.37915 1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17 5.92 -11.8 0.00035 AMP-dependent synthetase/ligase (1); 0.095334 0.85682 D 0.000000 T 0.20536 0.0494 N 0.17312 0.475 0.30886 N 0.730933 B;B;B;B;B;B;B 0.22909 0.063;0.005;0.007;0.077;0.005;0.005;0.005 B;B;B;B;B;B;B 0.35353 0.127;0.014;0.015;0.201;0.009;0.014;0.014 T 0.40001 -0.9586 10 0.19147 T 0.46 . 18.3368 0.90291 0.7201:0.0:0.2185:0.0614 . 230;245;220;230;195;255;255 Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8 .;.;.;ACSL6_HUMAN;.;.;. L 230;255;245;195;195;255;241;230;139;230;210;230;195 ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L ENSP00000296869:F255L F - 3 2 ACSL6 131351706 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 -1.418000 0.02462 -3.672000 0.00123 -3.369000 0.00041 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 ACSL6-004 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000132622.1 0 0 0 13 878 0 263 0 0 0 0 263 2 0 0 0 0 0 2 1 0.999474 12 864 0 262 2 0 0 0 0 263 2 -2.222872 0 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.120000 0.060000 0.230000 0.120000 0.144591 0.120000 0 9.000000e-02 1.700000e-01 ZCCHC10 54819 broad.mit.edu 37 5 132362202 132362202 + Missense_Mutation SNP C C T rs143508297 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:132362202C>T ENST00000509437.1 - 1 35 c.28G>A c.(28-30)Gcc>Acc p.A10T ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTCTCCGGGCTATTAGCCGA 0.642000 0 SO:0001583 missense ENST00000509437.1 0 1 hg19 . . . . . . . . . . C 15.73 2.919083 0.52546 . . ENSG00000155329 ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170 . . . 4.84 4.84 0.62591 . 0.059049 0.64402 D 0.000003 T 0.70159 0.3192 . . . 0.31611 N 0.651506 D;D;D 0.67145 0.988;0.993;0.996 D;D;D 0.73708 0.981;0.956;0.981 T 0.73600 -0.3931 8 0.51188 T 0.08 . 15.1619 0.72791 0.0:1.0:0.0:0.0 . 10;10;10 G3XAM1;Q8TBK6;Q8TBK6-2 .;ZCH10_HUMAN;. T 10 . ENSP00000324274:A10T A - 1 0 ZCCHC10 132390101 1.000000 0.71417 1.000000 0.80357 0.691000 0.40173 4.062000 0.57492 2.683000 0.91414 0.591000 0.81541 GCC TCGA-HZ-A77Q-01A-11D-A36O-08 ZCCHC10-004 NOVEL basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000370163.1 0 0 1 21 178 1 55 1 5.938265e-01 6 42 1 55 5 0 0 0 0 0 2 1 0.999998 21 176 0 55 2 0 0 0 1 55 2 -6.945106 1 1 121382 16 45 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.920000 0.590000 1.000000 1.000000 0.889985 0.920000 1 7.400000e-01 1 FAM13B 51306 broad.mit.edu 37 5 137278825 137278825 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:137278825G>T ENST00000033079.3 - 20 2806 c.2355C>A c.(2353-2355)atC>atA p.I785I FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 11 GGATTACCTTGATTTCTTCAA 0.363000 0 SO:0001819 synonymous_variant ENST00000033079.3 0 1 hg19 CCDS4195.1 TCGA-HZ-A77Q-01A-11D-A36O-08 FAM13B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251279.1 0 0 0 8 366 0 68 0 1.564346e-01 0 28 0 68 2 0 0 0 0 0 2 1 0.988836 8 360 0 67 2 0 0 0 0 68 2 -7.866285 1 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.190000 0.080000 0.380000 0.180000 0.214545 0.190000 0 1.300000e-01 2.800000e-01 FAT2 2196 broad.mit.edu 37 5 150907603 150907603 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:150907603G>T ENST00000261800.5 - 15 10130 c.10118C>A c.(10117-10119)cCc>cAc p.P3373H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCTTTTTGGGGTGAATGGT 0.562000 0 SO:0001583 missense ENST00000261800.5 0 1 hg19 CCDS4317.1 . . . . . . . . . . G 28.8 4.953301 0.92660 . . ENSG00000086570 ENST00000261800 T 0.55234 0.53 5.73 5.73 0.89815 Cadherin (4);Cadherin-like (1); 0.000000 0.64402 D 0.000004 T 0.73806 0.3634 M 0.73319 2.225 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 T 0.74757 -0.3557 10 0.66056 D 0.02 . 19.9191 0.97079 0.0:0.0:1.0:0.0 . 3373;564 Q9NYQ8;E9PDJ8 FAT2_HUMAN;. H 3373 ENSP00000261800:P3373H ENSP00000261800:P3373H P - 2 0 FAT2 150887796 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 9.349000 0.97066 2.707000 0.92482 0.643000 0.83706 CCC TCGA-HZ-A77Q-01A-11D-A36O-08 FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252434.1 0 0 0 9 345 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 0.993827 9 338 0 105 2 0 0 0 0 105 2 -2.382945 0 1 121412 3 34 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.230000 0.110000 0.430000 0.220000 0.249955 0.230000 0 1.600000e-01 3.200000e-01 FAM114A2 10827 broad.mit.edu 37 5 153381896 153381896 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:153381896C>A ENST00000351797.4 - 11 1247 c.1171G>T c.(1171-1173)Gaa>Taa p.E391* FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321* NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 18 TGGAATAGTTCAATTGAGCAG 0.443000 0 SO:0001587 stop_gained ENST00000351797.4 0 1 hg19 CCDS4323.1 . . . . . . . . . . C 38 6.870452 0.97901 . . ENSG00000055147 ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313 . . . 5.98 5.98 0.97165 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.56958 D 0.05 -19.3981 19.2161 0.93778 0.0:1.0:0.0:0.0 . . . . X 391;391;391;321 . ENSP00000341597:E391X E - 1 0 FAM114A2 153362089 1.000000 0.71417 1.000000 0.80357 0.935000 0.57460 5.954000 0.70298 2.834000 0.97654 0.655000 0.94253 GAA TCGA-HZ-A77Q-01A-11D-A36O-08 FAM114A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252455.1 0 0 0 9 494 0 143 0 1.755010e-01 0 38 0 143 2 0 0 0 0 0 2 1 0.993519 9 481 0 142 2 0 0 0 0 143 2 -2.745085 1 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.160000 0.070000 0.310000 0.160000 0.179567 0.160000 0 1.100000e-01 2.300000e-01 NSD1 64324 broad.mit.edu 37 5 176562201 176562201 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:176562201G>T ENST00000439151.2 + 2 142 c.97G>T c.(97-99)Ggt>Tgt p.G33C NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000511258.1_Splice_Site_p.S10S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) CAGCCCTTTCGGTAATGGTCA 0.448000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) Dom yes 5 5q35 64324 nuclear receptor binding SET domain protein 1 yes L 0 SO:0001583 missense Familial Cancer Database Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS ENST00000439151.2 0 1 hg19 CCDS4412.1 . . . . . . . . . . G 15.03 2.712868 0.48517 . . ENSG00000165671 ENST00000439151;ENST00000361032 D;D 0.98075 -4.08;-4.7 5.23 2.44 0.29823 . 0.132495 0.34802 N 0.003666 D 0.95452 0.8523 N 0.08118 0 0.80722 D 1 D;D;D 0.76494 0.999;0.997;0.997 D;P;P 0.64776 0.929;0.85;0.84 D 0.93176 0.6570 10 0.41790 T 0.15 . 9.6226 0.39730 0.0744:0.2682:0.6574:0.0 . 33;33;33 Q96L73-3;Q96L73;Q6PJ64 .;NSD1_HUMAN;. C 33 ENSP00000395929:G33C;ENSP00000354310:G33C ENSP00000354310:G33C G + 1 0 NSD1 176494807 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 5.600000 0.67599 0.339000 0.23719 0.555000 0.69702 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253412.2 0 0 0 14 577 0 151 0 3.722014e-02 0 12 0 151 2 0 0 0 0 0 2 1 0.999713 13 564 0 150 2 0 0 0 0 151 2 -2.314746 0 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.210000 0.110000 0.360000 0.200000 0.226877 0.210000 0 1.500000e-01 2.800000e-01 RUFY1 80230 broad.mit.edu 37 5 179016622 179016622 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:179016622C>A ENST00000319449.4 + 9 1114 c.1102C>A c.(1102-1104)Cga>Aga p.R368R RUFY1_ENST00000393438.2_Silent_p.R260R|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R260R NM_025158.4 NP_079434.3 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAATTAATTCGAGAAAGAAG 0.388000 HNSCC(44;0.11) 0 SO:0001819 synonymous_variant ENST00000319449.4 1 0 hg19 CCDS4445.2 . . . . . . . . . . C 10.33 1.321386 0.23994 . . ENSG00000176783 ENST00000508609 . . . 5.47 5.47 0.80525 . . . . . T 0.75384 0.3842 . . . 0.80722 D 1 . . . . . . T 0.73597 -0.3932 4 . . . -12.448 19.3849 0.94553 0.0:1.0:0.0:0.0 . . . . L 156 . . F + 3 2 RUFY1 178949228 1.000000 0.71417 0.960000 0.40013 0.990000 0.78478 4.156000 0.58138 2.581000 0.87130 0.549000 0.68633 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 RUFY1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000253505.2 1 0 0 16 465 0 94 0 8.331932e-01 0 97 0 94 2 0 0 0 0 0 2 1 0.999927 16 459 0 94 2 0 0 0 0 94 2 -2.706646 1 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.290000 0.170000 0.480000 0.290000 0.311463 0.290000 0 2.200000e-01 3.800000e-01 MRPS36 92259 broad.mit.edu 37 5 68524181 68524181 + Missense_Mutation SNP A A T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:68524181A>T ENST00000256441.4 + 3 331 c.261A>T c.(259-261)aaA>aaT p.K87N MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR NM_033281.5 NP_150597.1 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 7 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) ACAGAAGGAAACTTGTGTCTC 0.373000 0 SO:0001583 missense ENST00000256441.4 1 1 hg19 CCDS34174.1 . . . . . . . . . . A 15.70 2.910653 0.52439 . . ENSG00000134056 ENST00000256441;ENST00000512880 . . . 5.76 4.59 0.56863 . 0.054165 0.64402 D 0.000001 T 0.64994 0.2649 L 0.39898 1.24 0.44136 D 0.99692 D 0.76494 0.999 D 0.83275 0.996 T 0.65755 -0.6091 9 0.72032 D 0.01 -20.7389 8.3323 0.32193 0.8452:0.0:0.1548:0.0 . 87 P82909 RT36_HUMAN N 87;22 . ENSP00000256441:K87N K + 3 2 MRPS36 68559937 0.989000 0.36119 0.991000 0.47740 0.993000 0.82548 2.537000 0.45702 1.005000 0.39183 0.377000 0.23210 AAA TCGA-HZ-A77Q-01A-11D-A36O-08 MRPS36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368940.1 1 0 1 63 514 0 133 1 9.999839e-01 28 102 0 133 2 0 0 0 0 0 2 1 1.000000 63 509 0 129 2 0 0 0 0 133 2 -19.956460 1 1 0 0 1 1 2 3 2.028763 0 0.230000 1.890000 0.231767 0.950000 0.740000 1.000000 1.000000 0.930945 0.950000 1 8.400000e-01 1 MEF2C 4208 broad.mit.edu 37 5 88119587 88119587 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:88119587G>T ENST00000437473.2 - 2 436 c.19C>A c.(19-21)Cag>Aag p.Q7K MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K NM_001193350.1|NM_002397.4 NP_001180279.1|NP_002388.2 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C p.Q7E(3) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) CTCGTAATCTGAATCTTTTTT 0.343000 HNSCC(66;0.2) 3 Substitution - Missense(3) SO:0001583 missense ENST00000437473.2 0 1 hg19 CCDS47245.1 . . . . . . . . . . G 22.2 4.262694 0.80358 . . ENSG00000081189 ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.81415 -1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27 5.12 5.12 0.69794 Transcription factor, MADS-box (5); 0.051449 0.85682 D 0.000000 D 0.82291 0.5005 N 0.11892 0.195 0.80722 D 1 B;D;P;D 0.89917 0.166;1.0;0.909;0.999 B;D;D;D 0.83275 0.149;0.996;0.91;0.993 D 0.86237 0.1641 10 0.87932 D 0 -0.0224 18.9236 0.92536 0.0:0.0:1.0:0.0 . 7;7;7;7 C9JMZ0;F8W7V7;Q06413;Q06413-2 .;.;MEF2C_HUMAN;. K 7 ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K ENSP00000340874:Q7K Q - 1 0 MEF2C 88155343 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.384000 0.97219 2.543000 0.85770 0.591000 0.81541 CAG TCGA-HZ-A77Q-01A-11D-A36O-08 MEF2C-003 KNOWN alternative_5_UTR|basic|CCDS protein_coding protein_coding OTTHUMT00000369817.1 0 0 0 22 1140 0 281 0 1.530290e-01 0 35 0 281 2 0 0 0 0 0 2 1 0.999998 21 1118 0 275 2 0 0 0 0 281 2 -2.254158 0 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.160000 0.100000 0.260000 0.160000 0.179839 0.160000 0 1.300000e-01 2.100000e-01 LYSMD3 116068 broad.mit.edu 37 5 89815139 89815139 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:89815139C>A ENST00000315948.6 - 3 562 c.418G>T c.(418-420)Gaa>Taa p.E140* LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) TCCTGTTGTTCGGAAGAGTAT 0.373000 0 SO:0001587 stop_gained ENST00000315948.6 0 1 hg19 CCDS43338.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 16.42|16.42 3.119638|3.119638 0.56613|0.56613 .|. .|. ENSG00000176018;ENSG00000259141|ENSG00000176018 ENST00000315948;ENST00000554351|ENST00000509384 .|. .|. .|. 5.73|5.73 5.73|5.73 0.89815|0.89815 .|. 0.400265|. 0.29537|. N|. 0.011876|. .|T .|0.75939 .|0.3918 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|D .|0.63046 .|0.992 .|P .|0.54706 .|0.759 .|T .|0.78585 .|-0.2147 .|7 0.14656|0.87932 T|D 0.56|0 -10.0408|-10.0408 19.8807|19.8807 0.96899|0.96899 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|120 .|Q7Z3D4-2 .|. X|L 140|120 .|. ENSP00000314518:E140X|ENSP00000427683:R120L E|R -|- 1|2 0|0 AC027323.1;LYSMD3|LYSMD3 89850895|89850895 1.000000|1.000000 0.71417|0.71417 0.903000|0.903000 0.35520|0.35520 0.226000|0.226000 0.24999|0.24999 6.891000|6.891000 0.75639|0.75639 2.692000|2.692000 0.91855|0.91855 0.591000|0.591000 0.81541|0.81541 GAA|CGA TCGA-HZ-A77Q-01A-11D-A36O-08 LYSMD3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369987.2 0 0 0 15 488 0 128 0 1.327429e-01 0 20 0 128 2 0 0 0 0 0 2 1 0.999854 12 482 0 127 2 0 0 0 0 128 2 -2.649822 1 1 0 0 1 1 2 3 2.029192 0 0.230000 1.890000 0.231767 0.260000 0.150000 0.440000 0.260000 0.281431 0.260000 0 2.000000e-01 3.400000e-01 SEMA5A 9037 broad.mit.edu 37 5 9197320 9197320 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr5:9197320G>T ENST00000382496.5 - 10 1693 c.1028C>A c.(1027-1029)tCg>tAg p.S343* NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 81 TAGCCAGGCCGAGCGCGAGTT 0.587000 0 SO:0001587 stop_gained ENST00000382496.5 0 1 hg19 CCDS3875.1 . . . . . . . . . . G 45 12.020084 0.99627 . . ENSG00000112902 ENST00000382496 . . . 5.28 5.28 0.74379 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 16.7642 0.85520 0.0:0.0:1.0:0.0 . . . . X 343 . ENSP00000371936:S343X S - 2 0 SEMA5A 9250320 1.000000 0.71417 0.997000 0.53966 0.987000 0.75469 9.574000 0.98184 2.621000 0.88768 0.603000 0.83216 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 SEMA5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206989.2 0 0 0 13 571 0 183 0 1.929940e-02 0 9 0 183 2 0 0 0 0 0 2 1 0.999471 13 559 0 180 2 0 0 0 0 183 2 -2.577564 1 1 0 0 1 1 2 3 2.028763 0 0.230000 1.890000 0.231767 0.190000 0.100000 0.340000 0.200000 0.214812 0.190000 0 1.400000e-01 2.600000e-01 MCM9 254394 broad.mit.edu 37 6 119238766 119238766 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:119238766G>T ENST00000316316.6 - 5 1150 c.864C>A c.(862-864)ttC>ttA p.F288L MCM9_ENST00000316068.3_Missense_Mutation_p.F288L NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 18 all_cancers(87;0.122)|all_epithelial(87;0.179) AAAAATCTTCGAATTCCTTTT 0.378000 0 SO:0001583 missense ENST00000316316.6 0 1 hg19 CCDS56447.1 . . . . . . . . . . G 23.8 4.454336 0.84209 . . ENSG00000111877 ENST00000316316;ENST00000316068 T;T 0.06142 3.73;3.34 5.81 4.65 0.58169 . . . . . T 0.16085 0.0387 M 0.87682 2.9 0.52099 D 0.999949 D 0.89917 1.0 D 0.70016 0.967 T 0.02098 -1.1214 9 0.36615 T 0.2 . 11.7956 0.52098 0.9314:0.0:0.0686:0.0 . 288 Q9NXL9-2 . L 288 ENSP00000314505:F288L;ENSP00000312870:F288L ENSP00000312870:F288L F - 3 2 MCM9 119280465 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 4.102000 0.57776 1.044000 0.40200 -0.251000 0.11542 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 MCM9-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042005.4 0 0 0 12 660 0 179 0 3.782048e-03 0 5 0 179 2 0 0 0 0 0 2 1 0.999064 14 654 0 179 2 0 0 0 0 179 2 -2.430632 0 1 0 0 1 0 1 1 1.784241 1 0.230000 1.890000 0.129944 0.130000 0.070000 0.230000 0.140000 0.146949 0.130000 0 1.000000e-01 1.900000e-01 PPIL4 85313 broad.mit.edu 37 6 149842225 149842225 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:149842225G>T ENST00000253329.2 - 10 985 c.953C>A c.(952-954)tCg>tAg p.S318* NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 13 Ovarian(120;0.0164) CTTTGCAACCGACTGGCTAAA 0.333000 0 SO:0001587 stop_gained ENST00000253329.2 0 1 hg19 CCDS34550.1 . . . . . . . . . . G 36 5.846120 0.97016 . . ENSG00000131013 ENST00000253329 . . . 5.52 5.52 0.82312 . 0.049439 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 19.442 0.94824 0.0:0.0:1.0:0.0 . . . . X 318 . ENSP00000253329:S318X S - 2 0 PPIL4 149883918 1.000000 0.71417 1.000000 0.80357 0.888000 0.51559 9.314000 0.96306 2.597000 0.87782 0.555000 0.69702 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 PPIL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042642.1 0 0 0 9 558 0 130 0 3.019551e-01 0 63 0 130 2 0 0 0 0 0 2 1 0.993484 9 542 0 129 2 0 0 0 0 130 2 -2.267484 0 1 0 0 1 0 1 1 1.784241 1 0.230000 1.890000 0.129944 0.120000 0.050000 0.220000 0.120000 0.133647 0.120000 0 8.000000e-02 1.700000e-01 BTN1A1 696 broad.mit.edu 37 6 26501880 26501880 + Silent SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:26501880C>T ENST00000244513.6 + 2 208 c.142C>T c.(142-144)Ctg>Ttg p.L48L NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 26 GGACGCCGAGCTGCCCTGTCG 0.647000 0 SO:0001819 synonymous_variant ENST00000244513.6 1 1 hg19 CCDS4614.1 TCGA-HZ-A77Q-01A-11D-A36O-08 BTN1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043776.1 1 0 0 13 252 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 0.999536 13 249 0 78 2 0 0 0 0 78 2 -15.018640 1 1 0 0 1 0 0 0 1.909098 0 0.230000 1.890000 0.181025 0.400000 0.220000 0.640000 0.400000 0.421394 0.400000 0 3.000000e-01 5.200000e-01 SCAND3 0 broad.mit.edu 37 6 28543364 28543364 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:28543364G>T ENST00000452236.2 - 3 1735 c.1118C>A c.(1117-1119)tCa>tAa p.S373* SCAND3_ENST00000530247.1_5'Flank NM_052923.1 NP_443155.1 71 TTGGCATCTTGAACTAACTTC 0.338000 0 SO:0001587 stop_gained ENST00000452236.2 0 1 hg19 CCDS34355.1 . . . . . . . . . . G 41 8.759941 0.98943 . . ENSG00000232040 ENST00000452236 . . . 3.45 3.45 0.39498 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 10.6309 0.45536 0.0:0.0:1.0:0.0 . . . . X 373 . ENSP00000395259:S373X S - 2 0 SCAND3 28651343 0.999000 0.42202 0.978000 0.43139 0.998000 0.95712 2.230000 0.42999 1.935000 0.56089 0.655000 0.94253 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 SCAND3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000043551.3 0 0 0 9 549 1 137 0 0 0 1 137 2 0 0 0 0 0 2 0 0.143848 9 543 1 136 15 0 0 0 1 137 2 -2.782501 1 1 0 0 1 0 0 0 1.909098 0 0.230000 1.890000 0.181025 0.130000 0.060000 0.240000 0.130000 0.144812 0.130000 0 9.000000e-02 1.900000e-01 C6orf136 221545 broad.mit.edu 37 6 30619054 30619054 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:30619054G>T ENST00000376473.5 + 4 734 c.575G>T c.(574-576)tGg>tTg p.W192L C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|AL662800.2_ENST00000583820.1_RNA NM_001109938.2 NP_001103408.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 10 GGCCGGACATGGTACATTCTT 0.493000 0 SO:0001583 missense ENST00000376473.5 0 1 hg19 CCDS43443.1 . . . . . . . . . . G 9.905 1.207852 0.22205 . . ENSG00000204564 ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801 . . . 4.72 0.6 0.17524 . 0.571491 0.18568 N 0.137403 T 0.07143 0.0181 N 0.08118 0 0.25418 N 0.9883 B;B;B 0.09022 0.002;0.0;0.0 B;B;B 0.08055 0.003;0.001;0.002 T 0.41466 -0.9507 9 0.11485 T 0.65 -1.7055 13.3791 0.60757 0.0:0.0:0.2885:0.7115 . 58;373;192 A9R9P9;F8VX15;Q5SQH8 .;.;CF136_HUMAN L 373;192;58;310;49;14;5 . ENSP00000293604:W373L W + 2 0 C6orf136 30727033 0.987000 0.35691 0.981000 0.43875 0.980000 0.70556 0.475000 0.22164 -0.006000 0.14370 -0.152000 0.13540 TGG TCGA-HZ-A77Q-01A-11D-A36O-08 C6orf136-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076457.4 0 0 0 17 1624 1 572 0 1.695416e-02 0 18 1 572 2 0 0 0 0 0 2 1 0.859159 17 1600 1 568 12 0 0 0 1 572 2 -1.929629 0 1 0 0 1 0 1 1 1.889021 1 0.230000 1.890000 0.167792 0.080000 0.040000 0.130000 0.080000 0.087881 0.080000 0 6.000000e-02 1.100000e-01 TNXB 7148 broad.mit.edu 37 6 32046907 32046907 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:32046907G>T ENST00000375244.3 - 11 4479 c.4278C>A c.(4276-4278)acC>acA p.T1426T TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA P22105 TENX_HUMAN tenascin XB 8 GGCCTCCCACGGTGACCTCAC 0.687000 0 SO:0001819 synonymous_variant ENST00000375244.3 0 1 hg19 TCGA-HZ-A77Q-01A-11D-A36O-08 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 0 0 0 10 455 0 155 0 4.985729e-02 0 15 0 155 2 0 0 0 0 0 2 1 0.996665 8 449 0 152 2 0 0 0 0 155 2 -2.173676 0 1 0 0 1 0 1 1 1.889021 1 0.230000 1.890000 0.167792 0.170000 0.080000 0.300000 0.170000 0.187496 0.170000 0 1.200000e-01 2.400000e-01 GRM4 2914 broad.mit.edu 37 6 34003600 34003600 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:34003600G>A ENST00000538487.2 - 9 2730 c.2287C>T c.(2287-2289)Ctc>Ttc p.L763F GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 48 GTGACCATGAGCAGCATGCTG 0.602000 0 SO:0001583 missense ENST00000538487.2 1 1 hg19 CCDS4787.1 . . . . . . . . . . G 20.4 3.976898 0.74360 . . ENSG00000124493 ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714 D;D;D;D;D;D;D 0.96365 -3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99 4.47 3.6 0.41247 GPCR, family 3, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.98270 0.9427 H 0.94542 3.55 0.80722 D 1 D;D;D;D;D 0.89917 0.999;1.0;1.0;0.997;1.0 D;D;D;D;D 0.85130 0.989;0.997;0.997;0.959;0.993 D 0.99174 1.0865 10 0.87932 D 0 . 12.6781 0.56906 0.0805:0.0:0.9195:0.0 . 716;594;623;763;630 B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9 .;.;.;GRM4_HUMAN;. F 763;647;455;630;594;763;623 ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F ENSP00000363292:L647F L - 1 0 GRM4 34111578 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 7.728000 0.84847 1.087000 0.41251 0.455000 0.32223 CTC TCGA-HZ-A77Q-01A-11D-A36O-08 GRM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040213.2 1 0 1 18 162 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.999984 18 159 0 63 2 0 0 0 0 64 2 -20.000000 1 1 0 0 1 0 0 0 1.894629 1 0.230000 1.890000 0.174971 0.800000 0.500000 1.000000 1.000000 0.807186 0.800000 0 6.400000e-01 9.900000e-01 PHF3 23469 broad.mit.edu 37 6 64390021 64390021 + Nonsense_Mutation SNP C C A rs149513419 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:64390021C>A ENST00000262043.3 + 3 705 c.365C>A c.(364-366)tCa>tAa p.S122* PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122* Q92576 PHF3_HUMAN PHD finger protein 3 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GAAGAAAATTCAGTGAGATCT 0.383000 GBM(135;136 1820 29512 34071 46235) 0 SO:0001587 stop_gained ENST00000262043.3 0 1 hg19 CCDS4966.1 . . . . . . . . . . C 37 6.065655 0.97251 . . ENSG00000118482 ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822 . . . 5.98 5.98 0.97165 . 0.000000 0.32608 N 0.005877 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -14.529 20.452 0.99131 0.0:1.0:0.0:0.0 . . . . X 34;122;75;122;122;52 . ENSP00000262043:S122X S + 2 0 PHF3 64447980 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 4.034000 0.57289 2.838000 0.97847 0.591000 0.81541 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 PHF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041086.2 0 0 0 15 493 0 126 0 1.005594e-01 0 17 0 126 2 0 0 0 0 0 2 1 0.999852 15 482 0 124 2 0 0 0 0 126 2 -2.766770 1 1 0 0 1 0 0 0 1.894629 1 0.230000 1.890000 0.174971 0.240000 0.130000 0.380000 0.240000 0.252250 0.240000 0 1.800000e-01 3.100000e-01 KCNQ5 56479 broad.mit.edu 37 6 73713655 73713655 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:73713655G>T ENST00000370398.1 + 2 532 c.423G>T c.(421-423)ttG>ttT p.L141F KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F NM_019842.3 NP_062816.2 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) Ezogabine(DB04953) TTGGTTGCTTGATTTTGTCAG 0.363000 GBM(142;1375 1859 14391 23261 44706) 0 SO:0001583 missense ENST00000370398.1 0 1 hg19 CCDS4976.1 . . . . . . . . . . G 22.1 4.237974 0.79800 . . ENSG00000185760 ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165 D;D;D;D;D;D;D;D 0.98012 -4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66 5.58 5.58 0.84498 . 0.000000 0.64402 D 0.000002 D 0.98563 0.9520 M 0.73962 2.25 0.50813 D 0.999893 P;D;D;D;D;D 0.89917 0.86;1.0;0.989;0.994;1.0;1.0 P;D;P;D;D;D 0.85130 0.743;0.997;0.824;0.915;0.993;0.994 D 0.99264 1.0891 10 0.62326 D 0.03 . 18.7003 0.91618 0.0:0.0:1.0:0.0 . 141;141;141;141;141;141 F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4 .;.;.;.;KCNQ5_HUMAN;. F 141 ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F ENSP00000345055:L141F L + 3 2 KCNQ5 73770376 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.835000 0.75344 2.769000 0.95229 0.655000 0.94253 TTG TCGA-HZ-A77Q-01A-11D-A36O-08 KCNQ5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000041198.3 0 0 0 8 388 0 99 0 0 0 0 99 2 0 0 0 0 0 2 1 0.988976 8 383 0 99 2 0 0 0 0 99 2 -3.091924 1 1 0 0 1 0 1 1 1.784241 1 0.230000 1.890000 0.129944 0.150000 0.070000 0.290000 0.150000 0.171081 0.150000 0 1.100000e-01 2.200000e-01 SENP6 26054 broad.mit.edu 37 6 76425185 76425185 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:76425185C>A ENST00000447266.2 + 24 3692 c.3214C>A c.(3214-3216)Cga>Aga p.R1072R SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000541192.1_3'UTR NM_015571.2 NP_056386.2 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 27 all_hematologic(105;0.189) AGAAGAAATCCGAAACATAAT 0.368000 0 SO:0001819 synonymous_variant ENST00000447266.2 0 1 hg19 CCDS47454.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SENP6-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041272.2 0 0 0 9 470 0 129 0 6.157247e-01 0 104 0 129 2 0 0 0 0 0 2 1 0.993792 8 462 0 126 2 0 0 0 0 129 2 -2.259833 0 1 120806 1 35 1 0 1 1 1.784241 1 0.230000 1.890000 0.129944 0.140000 0.070000 0.260000 0.140000 0.157754 0.140000 0 1.000000e-01 2.000000e-01 TTK 7272 broad.mit.edu 37 6 80718204 80718204 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr6:80718204C>A ENST00000369798.2 + 4 575 c.464C>A c.(463-465)tCa>tAa p.S155* TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S155* NM_001166691.1|NM_003318.4 NP_001160163.1|NP_003309.2 P33981 TTK_HUMAN TTK protein kinase 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) TTTGAACTGTCACAAGGTAAT 0.303000 0 SO:0001587 stop_gained ENST00000369798.2 0 1 hg19 CCDS4993.1 . . . . . . . . . . C 43 10.343241 0.99387 . . ENSG00000112742 ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040 . . . 6.16 6.16 0.99307 . 0.060757 0.64402 D 0.000002 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 19.848 0.96722 0.0:1.0:0.0:0.0 . . . . X 155 . ENSP00000230510:S155X S + 2 0 TTK 80774923 1.000000 0.71417 1.000000 0.80357 0.925000 0.55904 4.998000 0.63927 2.937000 0.99478 0.650000 0.86243 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 TTK-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041316.2 0 0 0 9 406 0 105 0 1.857075e-03 0 3 0 105 2 0 0 0 0 0 2 1 0.993942 9 400 0 104 2 0 0 0 0 105 2 -3.415102 1 1 0 0 1 0 1 1 1.784241 1 0.230000 1.890000 0.129944 0.170000 0.080000 0.300000 0.160000 0.181571 0.170000 0 1.200000e-01 2.300000e-01 ASB15 142685 broad.mit.edu 37 7 123269090 123269090 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:123269090G>A ENST00000451558.1 + 12 1563 c.1042G>A c.(1042-1044)Gat>Aat p.D348N ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 12 GAGCTATGACGATGAGAGGAA 0.453000 0 SO:0001583 missense ENST00000451558.1 1 1 hg19 CCDS34742.1 . . . . . . . . . . G 33 5.286594 0.95517 . . ENSG00000146809 ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699 T;T;T;T;T 0.13901 2.55;2.55;2.55;2.55;2.55 6.17 6.17 0.99709 Ankyrin repeat-containing domain (4); 0.000000 0.85682 D 0.000000 T 0.23133 0.0559 N 0.11789 0.175 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.12477 -1.0546 10 0.26408 T 0.33 -59.0637 20.8794 0.99867 0.0:0.0:1.0:0.0 . 348 Q8WXK1 ASB15_HUMAN N 348;348;348;348;137;348 ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N ENSP00000275699:D348N D + 1 0 ASB15 123056326 1.000000 0.71417 0.606000 0.28943 0.963000 0.63663 9.461000 0.97646 2.941000 0.99782 0.655000 0.94253 GAT TCGA-HZ-A77Q-01A-11D-A36O-08 ASB15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347493.1 1 0 1 72 525 0 162 0 0 0 0 162 2 0 0 0 0 0 2 1 1.000000 70 517 0 161 2 0 0 0 0 162 2 -20.000000 1 0 121412 2 35 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.990000 0.820000 1.000000 1.000000 0.974650 0.990000 1 9.200000e-01 1 MKLN1 4289 broad.mit.edu 37 7 131148090 131148090 + Nonsense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:131148090C>A ENST00000352689.6 + 13 1680 c.1640C>A c.(1639-1641)tCa>tAa p.S547* MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455* NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 28 Melanoma(18;0.162) GTTAGAAATTCATTCTGGATT 0.348000 0 SO:0001587 stop_gained ENST00000352689.6 0 1 hg19 CCDS34754.1 . . . . . . . . . . C 41 9.090263 0.99062 . . ENSG00000128585 ENST00000421797;ENST00000352689;ENST00000388758 . . . 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -11.3791 19.3216 0.94243 0.0:1.0:0.0:0.0 . . . . X 455;547;37 . ENSP00000323527:S547X S + 2 0 MKLN1 130798630 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.463000 0.80869 2.818000 0.97014 0.591000 0.81541 TCA TCGA-HZ-A77Q-01A-11D-A36O-08 MKLN1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000337473.4 0 0 0 11 587 0 137 0 8.540197e-02 0 24 0 137 2 0 0 0 0 0 2 1 0.998123 11 573 0 134 2 0 0 0 0 137 2 -2.944517 1 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.160000 0.080000 0.270000 0.160000 0.171922 0.160000 0 1.100000e-01 2.200000e-01 TAS2R4 50832 broad.mit.edu 37 7 141478656 141478656 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:141478656G>T ENST00000247881.2 + 1 415 c.368G>T c.(367-369)cGg>cTg p.R123L SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 7 Melanoma(164;0.0171) CTGCTGAAGCGGAATATCTCC 0.478000 0 SO:0001583 missense ENST00000247881.2 0 1 hg19 CCDS5868.1 . . . . . . . . . . g 12.56 1.974173 0.34848 . . ENSG00000127364 ENST00000247881 T 0.00711 5.8 5.52 4.64 0.57946 . 0.625698 0.16289 N 0.220974 T 0.01800 0.0057 L 0.43554 1.36 0.09310 N 1 P 0.48640 0.913 P 0.56788 0.806 T 0.52533 -0.8563 10 0.41790 T 0.15 . 7.605 0.28097 0.0858:0.1661:0.7482:0.0 . 123 Q9NYW5 TA2R4_HUMAN L 123 ENSP00000247881:R123L ENSP00000247881:R123L R + 2 0 TAS2R4 141125125 0.003000 0.15002 0.033000 0.17914 0.290000 0.27261 0.174000 0.16743 1.575000 0.49775 0.632000 0.83419 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 TAS2R4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349285.1 0 0 0 9 675 0 150 0 0 0 0 150 2 0 0 0 0 0 2 1 0.993816 10 664 0 150 2 0 0 0 0 150 2 -2.034986 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.110000 0.050000 0.210000 0.120000 0.125399 0.110000 0 8.000000e-02 1.600000e-01 OR9A4 130075 broad.mit.edu 37 7 141618684 141618684 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:141618684G>T ENST00000548136.1 + 1 68 c.9G>T c.(7-9)atG>atT p.M3I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 22 Melanoma(164;0.0171) AAATGTTGATGAATTACTCTA 0.373000 0 SO:0001583 missense ENST00000548136.1 0 1 hg19 CCDS43661.1 . . . . . . . . . . . 6.763 0.509673 0.12883 . . ENSG00000258083 ENST00000548136 T 0.17213 2.29 3.33 -1.9 0.07665 . . . . . T 0.07413 0.0187 N 0.10733 0.035 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32134 -0.9918 9 0.72032 D 0.01 0.4043 4.3789 0.11284 0.4061:0.3203:0.2735:0.0 . 3 Q8NGU2 OR9A4_HUMAN I 3 ENSP00000448789:M3I ENSP00000386148:M3I M + 3 0 OR9A4 141265153 0.000000 0.05858 0.002000 0.10522 0.749000 0.42624 -0.453000 0.06778 -0.460000 0.07003 0.637000 0.83480 ATG TCGA-HZ-A77Q-01A-11D-A36O-08 OR9A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350806.3 0 0 0 10 592 0 150 0 0 0 0 150 2 0 0 0 0 0 2 1 0.996646 10 582 0 148 2 0 0 0 0 150 2 -2.441514 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.140000 0.070000 0.250000 0.140000 0.156558 0.140000 0 1.000000e-01 2.000000e-01 TRPV6 55503 broad.mit.edu 37 7 142571251 142571251 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:142571251C>A ENST00000359396.3 - 13 1983 c.1738G>T c.(1738-1740)Gac>Tac p.D580Y RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 42 Melanoma(164;0.059) CAGTGAGTGTCGCCCATCATG 0.597000 0 SO:0001583 missense ENST00000359396.3 0 1 hg19 CCDS5874.1 . . . . . . . . . . C 29.9 5.048747 0.93740 . . ENSG00000165125 ENST00000359396;ENST00000311470 D 0.92647 -3.08 5.57 5.57 0.84162 . 0.000000 0.85682 D 0.000000 D 0.96494 0.8856 M 0.84585 2.705 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.96396 0.9293 10 0.54805 T 0.06 -37.5871 18.5442 0.91040 0.0:1.0:0.0:0.0 . 580 Q9H1D0 TRPV6_HUMAN Y 580;412 ENSP00000352358:D580Y ENSP00000310825:D412Y D - 1 0 TRPV6 142281373 1.000000 0.71417 0.993000 0.49108 0.984000 0.73092 7.741000 0.84997 2.613000 0.88420 0.655000 0.94253 GAC TCGA-HZ-A77Q-01A-11D-A36O-08 TRPV6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347662.1 0 0 0 8 424 0 128 0 0 0 1 0 128 2 0 0 0 0 0 2 1 0.989000 9 418 0 128 2 0 0 0 0 128 2 -2.863188 1 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.160000 0.070000 0.300000 0.160000 0.177866 0.160000 0 1.100000e-01 2.300000e-01 PIP 5304 broad.mit.edu 37 7 142836647 142836647 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:142836647G>T ENST00000291009.3 + 4 393 c.353G>T c.(352-354)cGg>cTg p.R118L NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein p.R118L(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) GATGTTATTCGGGAATTAGGC 0.453000 1 Substitution - Missense(1) SO:0001583 missense ENST00000291009.3 0 1 hg19 CCDS34768.1 . . . . . . . . . . g 15.45 2.837901 0.50951 . . ENSG00000159763 ENST00000291009 T 0.14516 2.5 4.78 -4.48 0.03515 . 1.221410 0.05988 N 0.645521 T 0.13286 0.0322 M 0.65975 2.015 0.09310 N 1 B 0.22983 0.078 B 0.20577 0.03 T 0.34925 -0.9809 10 0.51188 T 0.08 . 3.3187 0.07043 0.5027:0.1128:0.2699:0.1146 . 118 P12273 PIP_HUMAN L 118 ENSP00000291009:R118L ENSP00000291009:R118L R + 2 0 PIP 142546769 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.459000 0.01000 -1.283000 0.02393 -1.746000 0.00682 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 PIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327089.1 0 0 0 12 694 0 219 0 0 0 0 219 2 0 0 0 0 0 2 1 0.998934 10 674 0 217 2 0 0 0 0 219 2 -1.827624 0 1 121404 1 36 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.140000 0.070000 0.250000 0.140000 0.157977 0.140000 0 1.000000e-01 2.000000e-01 EPHA1 2041 broad.mit.edu 37 7 143092480 143092480 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:143092480C>A ENST00000275815.3 - 12 2101 c.2015G>T c.(2014-2016)cGa>cTa p.R672L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AGTTGCCTCTCGAAGGAAGTT 0.567000 OREG0018405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000275815.3 0 1 hg19 CCDS5884.1 . . . . . . . . . . C 33 5.234819 0.95207 . . ENSG00000146904 ENST00000275815 D 0.83250 -1.7 4.83 4.83 0.62350 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.51477 D 0.000091 D 0.87912 0.6297 L 0.56280 1.765 0.58432 D 0.999999 D 0.63046 0.992 P 0.59948 0.866 D 0.87806 0.2628 10 0.49607 T 0.09 . 18.4787 0.90802 0.0:1.0:0.0:0.0 . 672 P21709 EPHA1_HUMAN L 672 ENSP00000275815:R672L ENSP00000275815:R672L R - 2 0 EPHA1 142802602 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 5.820000 0.69250 2.669000 0.90835 0.655000 0.94253 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 EPHA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342154.1 0 0 0 10 1017 0 314 0 1.019526e-02 0 14 0 314 2 0 0 0 0 0 2 0 0.113181 11 999 2 311 17 0 0 0 0 314 2 -2.017855 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.080000 0.030000 0.150000 0.080000 0.092114 0.080000 0 5.000000e-02 1.200000e-01 CHPF2 54480 broad.mit.edu 37 7 150934530 150934530 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:150934530C>T ENST00000035307.2 + 4 2595 c.1082C>T c.(1081-1083)cCt>cTt p.P361L RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|MIR671_ENST00000390183.1_RNA NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 17 GTTGGGCTCCCTGCTCCTTTC 0.617000 0 SO:0001583 missense ENST00000035307.2 1 1 hg19 CCDS34779.1 . . . . . . . . . . C 18.10 3.548837 0.65311 . . ENSG00000033100 ENST00000495645;ENST00000035307;ENST00000377851 T;T 0.16597 2.33;2.33 5.63 5.63 0.86233 . 0.090906 0.64402 D 0.000001 T 0.20577 0.0495 L 0.39898 1.24 0.80722 D 1 P;P 0.47034 0.889;0.879 P;P 0.48677 0.534;0.586 T 0.00728 -1.1591 10 0.29301 T 0.29 -29.2158 12.3421 0.55099 0.266:0.734:0.0:0.0 . 361;353 Q9P2E5;G5E9W2 CHPF2_HUMAN;. L 353;361;361 ENSP00000418914:P353L;ENSP00000035307:P361L ENSP00000035307:P361L P + 2 0 CHPF2 150565463 0.997000 0.39634 0.951000 0.38953 0.715000 0.41141 3.589000 0.53972 2.652000 0.90054 0.655000 0.94253 CCT TCGA-HZ-A77Q-01A-11D-A36O-08 CHPF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348648.2 1 0 1 36 316 0 94 1 9.998730e-01 18 101 0 94 2 0 0 0 0 0 2 1 1.000000 36 314 0 93 2 0 0 0 0 94 2 -2.690405 1 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.880000 0.630000 1.000000 1.000000 0.875491 0.880000 1 7.500000e-01 1 NEUROD6 63974 broad.mit.edu 37 7 31378601 31378601 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:31378601G>T ENST00000297142.3 - 2 604 c.282C>A c.(280-282)ttC>ttA p.F94L NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 32 CCTGTCTCCTGAACTTGACCC 0.498000 0 SO:0001583 missense ENST00000297142.3 0 1 hg19 CCDS5434.1 . . . . . . . . . . G 1.495 -0.553653 0.03996 . . ENSG00000164600 ENST00000297142 D 0.94576 -3.46 5.46 5.46 0.80206 Helix-loop-helix DNA-binding (1); 0.108239 0.64402 D 0.000011 D 0.86070 0.5845 N 0.11064 0.09 0.41174 D 0.98618 B 0.02656 0.0 B 0.01281 0.0 T 0.81263 -0.1012 10 0.06891 T 0.86 -22.1205 14.1906 0.65635 0.0:0.0:0.8505:0.1495 . 94 Q96NK8 NDF6_HUMAN L 94 ENSP00000297142:F94L ENSP00000297142:F94L F - 3 2 NEUROD6 31345126 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.206000 0.51098 2.569000 0.86673 0.650000 0.86243 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 NEUROD6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215050.1 0 0 0 15 807 0 226 0 0 0 0 226 2 0 0 0 0 0 2 1 0.999856 15 797 0 225 2 0 0 0 0 226 2 -2.375076 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.150000 0.080000 0.250000 0.160000 0.167176 0.150000 0 1.200000e-01 2.100000e-01 STARD3NL 83930 broad.mit.edu 37 7 38247300 38247300 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:38247300C>A ENST00000009041.7 + 2 452 c.195C>A c.(193-195)ttC>ttA p.F65L STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like 10 ACCTCTTATTCGTAACATTAC 0.373000 0 SO:0001583 missense ENST00000009041.7 0 1 hg19 CCDS5455.1 . . . . . . . . . . T 22.2 4.253884 0.80135 . . ENSG00000010270 ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075 T;T;T;T;T;T;T 0.48201 0.82;0.82;0.82;0.82;0.82;0.82;0.82 6.17 5.02 0.67125 MENTAL domain (2); 0.042989 0.85682 D 0.000000 T 0.61148 0.2324 L 0.53617 1.68 0.50813 D 0.999893 D;D 0.89917 1.0;0.98 D;P 0.97110 1.0;0.904 T 0.57888 -0.7733 10 0.45353 T 0.12 -8.6394 9.8732 0.41187 0.0:0.1389:0.0:0.8611 . 65;65 C9JKL2;O95772 .;MENTO_HUMAN L 65;58;65;65;65;65;65 ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L ENSP00000009041:F65L F + 3 2 STARD3NL 38213825 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 1.598000 0.36740 0.576000 0.29452 -0.254000 0.11334 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 STARD3NL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226929.2 0 0 0 10 333 0 75 0 6.433325e-01 0 72 0 75 2 0 0 0 0 0 2 1 0.996755 8 330 0 75 2 0 0 0 0 75 2 -2.900063 1 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.250000 0.130000 0.440000 0.250000 0.272905 0.250000 0 1.800000e-01 3.500000e-01 IKZF1 10320 broad.mit.edu 37 7 50455075 50455075 + Nonsense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:50455075C>T ENST00000331340.3 + 6 777 c.622C>T c.(622-624)Cga>Tga p.R208* IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) p.?(131) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ATATTGTGGCCGAAGCTATAA 0.473000 D,T BCL6 ALL, DLBCL Rec,Dom yes 7 7p12.2 10320 IKAROS family zinc finger 1 L 131 Unknown(131) SO:0001587 stop_gained ENST00000331340.3 0 1 hg19 . . . . . . . . . . C 39 7.427115 0.98279 . . ENSG00000185811 ENST00000343574;ENST00000331340;ENST00000438033 . . . 5.85 5.85 0.93711 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -14.6208 20.1731 0.98165 0.0:1.0:0.0:0.0 . . . . X 121;208;121 . ENSP00000331614:R208X R + 1 2 IKZF1 50422569 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.818000 0.86416 2.768000 0.95171 0.655000 0.94253 CGA TCGA-HZ-A77Q-01A-11D-A36O-08 IKZF1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000342242.1 1 0 1 19 124 0 28 0 9.549214e-02 0 4 0 28 2 0 0 0 0 0 2 1 0.999994 19 123 0 28 2 0 0 0 0 28 2 -11.149870 1 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.990000 0.720000 1.000000 1.000000 0.967989 0.990000 1 9.100000e-01 1 SUN1 23353 broad.mit.edu 37 7 888057 888057 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:888057G>T ENST00000456758.2 + 9 835 c.835G>T c.(835-837)Ggt>Tgt p.G279C SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_5'Flank|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 30 TTTAATAGGCGGTGCGTCTTT 0.358000 0 SO:0001583 missense ENST00000456758.2 0 1 hg19 . . . . . . . . . . G 18.66 3.672109 0.67928 . . ENSG00000164828 ENST00000456758;ENST00000429178 T;T 0.42513 0.97;0.97 5.56 4.67 0.58626 . . . . . T 0.65943 0.2740 . . . 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.70479 -0.4860 8 0.56958 D 0.05 . 16.0363 0.80631 0.0:0.1351:0.8649:0.0 . 221 O94901-3 . C 279;52 ENSP00000388743:G279C;ENSP00000409909:G52C ENSP00000409909:G52C G + 1 0 SUN1 854583 1.000000 0.71417 0.996000 0.52242 0.836000 0.47400 2.856000 0.48341 1.339000 0.45563 0.650000 0.86243 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 SUN1-204 KNOWN basic protein_coding protein_coding 0 0 0 10 745 0 204 0 1.570294e-01 0 48 0 204 2 0 0 0 0 0 2 1 0.996426 10 724 0 202 2 0 0 0 0 204 2 -1.668794 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.110000 0.050000 0.200000 0.120000 0.125061 0.110000 0 8.000000e-02 1.600000e-01 OCM2 4951 broad.mit.edu 37 7 97617777 97617777 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr7:97617777G>T ENST00000257627.4 - 2 236 c.145C>A c.(145-147)Cgg>Agg p.R49R OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 4 TCTATGAACCGGAAAACATCC 0.507000 0 SO:0001819 synonymous_variant ENST00000257627.4 0 1 hg19 CCDS5653.1 TCGA-HZ-A77Q-01A-11D-A36O-08 OCM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334188.1 0 0 0 10 496 0 127 0 0 0 0 127 2 0 0 0 0 0 2 1 0.996713 9 491 0 125 2 0 0 0 0 127 2 -2.150713 0 1 0 0 1 0 1 1 2.015375 0 0.230000 1.890000 0.225547 0.170000 0.080000 0.300000 0.170000 0.185941 0.170000 0 1.200000e-01 2.400000e-01 VPS13B 157680 broad.mit.edu 37 8 100123331 100123331 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:100123331G>T ENST00000358544.2 + 6 697 c.586G>T c.(586-588)Gat>Tat p.D196Y VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTTAGCAACTGATTTGGTGCT 0.274000 Colon(161;2205 2542 7338 31318) 0 SO:0001583 missense ENST00000358544.2 0 1 hg19 CCDS6280.1 . . . . . . . . . . G 22.9 4.352102 0.82132 . . ENSG00000132549 ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350 T;T;T;T;D 0.83506 -1.16;-0.45;-0.45;-0.16;-1.73 5.32 5.32 0.75619 . 0.058121 0.64402 D 0.000004 D 0.89196 0.6646 L 0.55481 1.735 0.58432 D 0.999999 D;D;D;D;D 0.76494 0.999;0.999;0.993;0.999;0.98 D;D;D;D;P 0.68039 0.939;0.915;0.911;0.955;0.804 D 0.90092 0.4178 10 0.87932 D 0 . 18.9995 0.92828 0.0:0.0:1.0:0.0 . 196;196;196;196;196 Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5 .;VP13B_HUMAN;.;.;. Y 196 ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y ENSP00000347281:D196Y D + 1 0 VPS13B 100192507 1.000000 0.71417 1.000000 0.80357 0.848000 0.48234 9.588000 0.98232 2.479000 0.83701 0.555000 0.69702 GAT TCGA-HZ-A77Q-01A-11D-A36O-08 VPS13B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277138.1 0 0 0 10 319 0 90 0 1.201179e-03 0 2 0 90 2 0 0 0 0 0 2 1 0.996802 10 315 0 88 2 0 0 0 0 90 2 -10.410670 1 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.270000 0.130000 0.460000 0.260000 0.285361 0.270000 0 1.900000e-01 3.700000e-01 RNF19A 25897 broad.mit.edu 37 8 101276930 101276930 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:101276930G>T ENST00000519449.1 - 7 1591 c.1275C>A c.(1273-1275)atC>atA p.I425I RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CTGGAGACACGATTACAGACA 0.363000 0 SO:0001819 synonymous_variant ENST00000519449.1 0 1 hg19 CCDS6286.1 TCGA-HZ-A77Q-01A-11D-A36O-08 RNF19A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380004.1 0 0 0 10 550 0 136 0 4.714327e-01 0 83 0 136 2 0 0 0 0 0 2 1 0.996723 9 544 0 135 2 0 0 0 0 136 2 -2.235855 0 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.150000 0.070000 0.270000 0.160000 0.168785 0.150000 0 1.100000e-01 2.200000e-01 EBAG9 9166 broad.mit.edu 37 8 110576764 110576764 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:110576764C>A ENST00000337573.5 + 7 918 c.618C>A c.(616-618)aaC>aaA p.N206K EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K NM_001278938.1|NM_004215.3 NP_001265867.1|NP_004206.1 O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) AGGAACAAAACAAAATTGGTG 0.388000 0 SO:0001583 missense ENST00000337573.5 1 1 hg19 CCDS6313.1 . . . . . . . . . . C 15.75 2.926951 0.52759 . . ENSG00000147654 ENST00000395785;ENST00000337573;ENST00000531677 . . . 5.52 1.68 0.24146 . 0.215116 0.40728 N 0.001032 T 0.32071 0.0817 N 0.19112 0.55 0.42409 D 0.992594 B 0.33238 0.403 B 0.22601 0.04 T 0.05971 -1.0853 9 0.31617 T 0.26 -24.8557 12.9693 0.58503 0.0:0.7392:0.0:0.2608 . 206 O00559 RCAS1_HUMAN K 206;206;251 . ENSP00000337675:N206K N + 3 2 EBAG9 110645940 0.037000 0.19845 0.991000 0.47740 0.958000 0.62258 0.178000 0.16820 0.110000 0.17919 -0.797000 0.03246 AAC TCGA-HZ-A77Q-01A-11D-A36O-08 EBAG9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383536.1 1 0 1 42 324 0 99 1 9.832449e-01 10 42 0 99 2 0 0 0 0 0 2 1 1.000000 42 319 0 98 2 0 0 0 0 99 2 -16.289010 1 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.990000 0.730000 1.000000 1.000000 0.944969 0.990000 1 8.500000e-01 1 PHF20L1 51105 broad.mit.edu 37 8 133790126 133790126 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:133790126C>A ENST00000395386.2 + 2 351 c.52C>A c.(52-54)Cgt>Agt p.R18S PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GATTGGTGCTCGTTTGGAGGC 0.363000 0 SO:0001583 missense ENST00000395386.2 0 1 hg19 CCDS6367.2 . . . . . . . . . . C 24.9 4.586264 0.86851 . . ENSG00000129292 ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390 T;T;T;T;T;T;T;T 0.49139 0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41 5.71 5.71 0.89125 Tudor-like, plant (1);Tudor domain (1); 0.156524 0.64402 D 0.000013 T 0.56775 0.2008 L 0.33624 1.015 0.80722 D 1 D;P;D;D;D 0.63046 0.988;0.755;0.992;0.99;0.987 P;B;P;P;P 0.60682 0.878;0.291;0.855;0.729;0.526 T 0.54456 -0.8291 10 0.46703 T 0.11 -8.4742 18.4154 0.90568 0.0:1.0:0.0:0.0 . 18;18;18;18;18 F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8 .;P20L1_HUMAN;.;.;. S 18 ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S ENSP00000324519:R18S R + 1 0 PHF20L1 133859308 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.940000 0.56599 2.685000 0.91497 0.585000 0.79938 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 PHF20L1-008 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000308949.3 0 0 0 8 529 0 113 0 3.441907e-02 0 17 0 113 2 0 0 0 0 0 2 0 0.047915 11 518 1 110 17 0 0 0 0 113 2 -2.302103 0 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.130000 0.050000 0.240000 0.130000 0.143951 0.130000 0 9.000000e-02 1.900000e-01 TCEB1 6921 broad.mit.edu 37 8 74858992 74858992 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:74858992G>T ENST00000522337.1 - 5 531 c.212C>A c.(211-213)tCg>tAg p.S71* TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71* Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) GCATACTTTCGATAGCACATG 0.398000 0 SO:0001587 stop_gained ENST00000522337.1 0 1 hg19 CCDS34910.1 . . . . . . . . . . G 37 6.088852 0.97271 . . ENSG00000154582 ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082 . . . 5.66 5.66 0.87406 . 0.000000 0.44902 D 0.000414 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.12430 T 0.62 -2.4048 19.7525 0.96273 0.0:0.0:1.0:0.0 . . . . X 71;55;71;71;71;71;71;71 . ENSP00000284811:S71X S - 2 0 TCEB1 75021546 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.103000 0.94232 2.669000 0.90835 0.591000 0.81541 TCG TCGA-HZ-A77Q-01A-11D-A36O-08 TCEB1-010 NOVEL alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000379020.1 0 0 0 7 271 0 61 0 9.708467e-01 0 246 0 61 2 0 0 0 0 0 2 1 0.980215 7 268 0 61 2 0 0 0 0 61 2 -3.075696 1 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.220000 0.100000 0.420000 0.220000 0.244872 0.220000 0 1.500000e-01 3.200000e-01 ZFHX4 79776 broad.mit.edu 37 8 77766289 77766289 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:77766289G>T ENST00000521891.2 + 10 7580 c.7132G>T c.(7132-7134)Gcc>Tcc p.A2378S ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAACGCTGCTGCCCCTGCAGC 0.512000 HNSCC(33;0.089) 0 SO:0001583 missense ENST00000521891.2 1 1 hg19 CCDS47878.2 . . . . . . . . . . G 11.09 1.535947 0.27475 . . ENSG00000091656 ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282 T;T;T;T 0.50001 0.76;0.81;0.77;0.77 4.8 3.91 0.45181 . 0.861471 0.09598 U 0.780516 T 0.34483 0.0899 N 0.22421 0.69 0.21105 N 0.99978 B;B;B 0.15473 0.008;0.013;0.013 B;B;B 0.18561 0.01;0.022;0.022 T 0.14839 -1.0458 10 0.10636 T 0.68 . 13.5636 0.61804 0.0765:0.0:0.9235:0.0 . 2333;2333;2378 Q86UP3;Q86UP3-4;G3V138 ZFHX4_HUMAN;.;. S 2378;2362;2333;2333;2352 ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S ENSP00000050961:A2333S A + 1 0 ZFHX4 77928844 0.860000 0.29831 0.005000 0.12908 0.896000 0.52359 4.707000 0.61852 1.210000 0.43336 0.650000 0.86243 GCC TCGA-HZ-A77Q-01A-11D-A36O-08 ZFHX4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379197.2 1 0 0 47 314 0 113 0 0 0 1 0 113 2 0 0 0 0 0 2 1 1.000000 47 309 0 112 2 0 0 0 0 113 2 -19.733010 1 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.990000 0.840000 1.000000 1.000000 0.985984 0.990000 1 9.700000e-01 1 CA1 759 broad.mit.edu 37 8 86250487 86250487 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:86250487G>T ENST00000523953.1 - 4 1275 c.229C>A c.(229-231)Cga>Aga p.R77R CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R P00915 CAH1_HUMAN carbonic anhydrase I 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909) TCACCTGATCGGTTATCGTTG 0.393000 0 SO:0001819 synonymous_variant ENST00000523953.1 0 1 hg19 CCDS6237.1 . . . . . . . . . . G 0.298 -0.975851 0.02215 . . ENSG00000133742 ENST00000521679 . . . 5.14 3.31 0.37934 . . . . . T 0.68522 0.3010 . . . 0.80722 D 1 . . . . . . T 0.65549 -0.6141 4 . . . -1.2951 13.4955 0.61424 0.0:0.0:0.7637:0.2363 . . . . Q 13 . . P - 2 0 CA1 86437739 0.998000 0.40836 0.030000 0.17652 0.077000 0.17291 1.135000 0.31454 0.534000 0.28695 0.591000 0.81541 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 CA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381067.1 0 0 0 11 605 0 174 0 0 0 0 174 2 0 0 0 0 0 2 1 0.998145 11 592 0 173 2 0 0 0 0 174 2 -1.818630 0 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.150000 0.080000 0.260000 0.160000 0.167536 0.150000 0 1.100000e-01 2.100000e-01 SLC26A7 115111 broad.mit.edu 37 8 92364116 92364116 + Splice_Site SNP G G C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr8:92364116G>C ENST00000276609.3 + 10 1457 c.e10+1 SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 solute carrier family 26 (anion exchanger), member 7 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GCTGCCCATGGTACGGTAGTG 0.343000 0 SO:0001630 splice_region_variant ENST00000276609.3 1 1 hg19 CCDS6254.1 . . . . . . . . . . G 16.88 3.245791 0.59103 . . ENSG00000147606 ENST00000523719;ENST00000276609;ENST00000309536 . . . 5.55 5.55 0.83447 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.089 0.93219 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . SLC26A7 92433292 1.000000 0.71417 0.998000 0.56505 0.699000 0.40488 6.331000 0.72929 2.610000 0.88304 0.591000 0.81541 . TCGA-HZ-A77Q-01A-11D-A36O-08 SLC26A7-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377011.1 1 0 1 77 639 0 194 0 0 0 0 194 2 0 0 0 0 0 2 1 1.000000 75 629 0 190 2 0 0 0 0 194 2 -19.999980 1 1 0 0 1 0 1 1 2.020490 0 0.230000 1.890000 0.228225 0.920000 0.740000 1.000000 1.000000 0.920964 0.920000 1 8.300000e-01 1 IKBKAP 8518 broad.mit.edu 37 9 111678495 111678495 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:111678495G>T ENST00000374647.5 - 10 1254 c.947C>A c.(946-948)cCg>cAg p.P316Q IKBKAP_ENST00000537196.1_5'UTR NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 53 ACAGGTTTTCGGAATGGAGCT 0.453000 0 SO:0001583 missense ENST00000374647.5 0 1 hg19 CCDS6773.1 . . . . . . . . . . G 10.39 1.337794 0.24253 . . ENSG00000070061 ENST00000374647 T 0.20200 2.09 5.61 -1.68 0.08212 . 0.937565 0.09059 N 0.854523 T 0.28267 0.0698 L 0.58101 1.795 0.09310 N 0.999999 D 0.53462 0.96 P 0.58873 0.847 T 0.33471 -0.9867 10 0.13108 T 0.6 0.1594 4.912 0.13827 0.3142:0.3299:0.3559:0.0 . 316 O95163 ELP1_HUMAN Q 316 ENSP00000363779:P316Q ENSP00000363779:P316Q P - 2 0 IKBKAP 110718316 0.083000 0.21467 0.028000 0.17463 0.086000 0.17979 0.861000 0.27885 -0.103000 0.12175 -1.004000 0.02495 CCG TCGA-HZ-A77Q-01A-11D-A36O-08 IKBKAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053574.1 0 0 0 10 492 0 132 0 3.344671e-02 0 13 0 132 2 0 0 0 0 0 2 1 0.996609 9 483 0 131 2 0 0 0 0 132 2 -2.215935 0 1 0 0 1 0 1 1 2.017515 0 0.230000 1.890000 0.226442 0.170000 0.080000 0.300000 0.170000 0.187630 0.170000 0 1.200000e-01 2.400000e-01 LPAR1 1902 broad.mit.edu 37 9 113703751 113703751 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:113703751C>A ENST00000374431.3 - 4 1126 c.743G>T c.(742-744)cGg>cTg p.R248L LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 21 ATCCCGATTCCGCCGGGGTCC 0.453000 NSCLC(115;661 2323 9836 34256) 0 SO:0001583 missense ENST00000374431.3 0 1 hg19 CCDS6777.1 . . . . . . . . . . C 22.0 4.229298 0.79688 . . ENSG00000198121 ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760 T;T;T;T;T 0.37752 1.18;1.18;1.18;1.18;1.18 5.19 5.19 0.71726 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.65995 0.2745 M 0.86953 2.85 0.58432 D 0.999999 D;D;D 0.65815 0.995;0.995;0.995 D;D;D 0.71414 0.973;0.924;0.973 T 0.73004 -0.4119 10 0.87932 D 0 . 17.708 0.88314 0.0:1.0:0.0:0.0 . 249;249;248 B4DQ18;B4DK36;Q92633 .;.;LPAR1_HUMAN L 248;249;248;248;230;249 ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L ENSP00000351755:R248L R - 2 0 LPAR1 112743572 1.000000 0.71417 0.991000 0.47740 0.974000 0.67602 6.089000 0.71384 2.437000 0.82529 0.563000 0.77884 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 LPAR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053631.1 0 0 0 10 372 0 106 0 4.206893e-01 0 51 0 106 2 0 0 0 0 0 2 1 0.996490 8 363 0 104 2 0 0 0 0 106 2 -2.722102 1 1 0 0 1 0 1 1 2.017515 0 0.230000 1.890000 0.226442 0.230000 0.110000 0.390000 0.230000 0.245737 0.230000 0 1.600000e-01 3.100000e-01 GARNL3 84253 broad.mit.edu 37 9 130027240 130027240 + Silent SNP G G T rs141855938 TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:130027240G>T ENST00000373387.4 + 1 436 c.84G>T c.(82-84)tcG>tcT p.S28S GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 41 GCTCTGTCTCGGAAGACCTAG 0.423000 0 SO:0001819 synonymous_variant ENST00000373387.4 0 1 hg19 CCDS6869.2 TCGA-HZ-A77Q-01A-11D-A36O-08 GARNL3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054151.3 0 0 0 10 779 0 176 0 6.236348e-04 0 3 0 176 2 0 0 0 0 0 2 1 0.996559 10 763 0 172 2 0 0 0 0 176 2 -1.875923 0 1 0 0 1 0 1 1 2.017515 0 0.230000 1.890000 0.226442 0.110000 0.050000 0.190000 0.110000 0.119851 0.110000 0 7.000000e-02 1.500000e-01 BARHL1 56751 broad.mit.edu 37 9 135462791 135462791 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:135462791C>T ENST00000263610.2 + 2 1155 c.542C>T c.(541-543)gCg>gTg p.A181V BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 8 CCACGCAAGGCGCGCACGGCC 0.677000 0 SO:0001583 missense ENST00000263610.2 0 1 hg19 CCDS6950.1 . . . . . . . . . . C 27.4 4.831568 0.91036 . . ENSG00000125492 ENST00000263610;ENST00000542090 D;D 0.96265 -3.96;-3.96 4.9 4.9 0.64082 Homeodomain-related (1);Homeobox (3);Homeodomain-like (1); 0.000000 0.85682 D 0.000000 D 0.93331 0.7874 N 0.25094 0.71 0.80722 D 1 P 0.39060 0.657 B 0.41723 0.365 D 0.94391 0.7614 10 0.87932 D 0 . 15.5939 0.76562 0.0:1.0:0.0:0.0 . 181 Q9BZE3 BARH1_HUMAN V 181 ENSP00000263610:A181V;ENSP00000444704:A181V ENSP00000263610:A181V A + 2 0 BARHL1 134452612 1.000000 0.71417 0.993000 0.49108 0.994000 0.84299 7.811000 0.86092 2.269000 0.75478 0.555000 0.69702 GCG TCGA-HZ-A77Q-01A-11D-A36O-08 BARHL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054789.2 0 0 0 5 39 0 15 0 0 0 0 15 2 0 0 0 0 0 2 1 0.933690 4 38 0 15 2 0 0 0 0 15 2 -11.037760 1 1 0 0 1 0 1 1 2.017515 0 0.230000 1.890000 0.226442 0.980000 0.400000 1.000000 1.000000 0.866974 0.980000 1 6.500000e-01 1 SNAPC3 6619 broad.mit.edu 37 9 15459726 15459726 + Silent SNP G G T rs113748924 byFrequency TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:15459726G>T ENST00000380821.3 + 9 1274 c.1098G>T c.(1096-1098)acG>acT p.T366T NM_001039697.1 NP_001034786.1 Q92966 SNPC3_HUMAN small nuclear RNA activating complex, polypeptide 3, 50kDa 12 GATGGGTGACGAACAATGACA 0.373000 0 SO:0001819 synonymous_variant ENST00000380821.3 0 1 hg19 CCDS6478.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SNAPC3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051763.2 0 0 0 10 506 0 105 0 2.478432e-01 0 45 0 105 2 0 0 0 0 0 2 1 0.996547 9 495 0 104 2 0 0 0 0 105 2 -2.792254 1 1 0 0 1 0 2 2 2.031152 1 0.230000 1.890000 0.230000 0.170000 0.080000 1.000000 0.170000 0.206948 0.170000 0 1.200000e-01 2.400000e-01 KIAA1432 0 broad.mit.edu 37 9 5763327 5763327 + Missense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chr9:5763327G>T ENST00000414202.2 + 19 2491 c.2300G>T c.(2299-2301)cGg>cTg p.R767L KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 p.R688L(1) 45 Acute lymphoblastic leukemia(23;0.154) TTGTCCCAGCGGATCATGCTG 0.517000 1 Substitution - Missense(1) SO:0001583 missense ENST00000414202.2 0 1 hg19 CCDS34982.2 . . . . . . . . . . G 27.0 4.794235 0.90453 . . ENSG00000107036 ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720 . . . 5.78 5.78 0.91487 Ribosome control protein 1 (1); 0.000000 0.85682 D 0.000000 D 0.85062 0.5611 M 0.86805 2.84 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.998;0.999;0.999;0.997 D 0.85507 0.1195 9 0.51188 T 0.08 -19.9006 20.0079 0.97439 0.0:0.0:1.0:0.0 . 651;688;767;767 B7ZM67;B2RN24;Q4ADV7;G5E932 .;.;RIC1_HUMAN;. L 767;767;688;688;651 . ENSP00000251879:R767L R + 2 0 KIAA1432 5753327 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.476000 0.97823 2.726000 0.93360 0.561000 0.74099 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 KIAA1432-002 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051636.3 0 0 0 9 839 0 247 0 1.070369e-02 0 13 0 247 2 0 0 0 0 0 2 1 0.993947 9 830 0 247 2 0 0 0 0 247 2 -1.871698 0 1 0 0 1 0 2 2 2.031152 1 0.230000 1.890000 0.230000 0.090000 0.040000 1.000000 0.100000 0.127731 0.090000 0 6.000000e-02 1.400000e-01 WWC3 55841 broad.mit.edu 37 X 10090729 10090729 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:10090729G>T ENST00000380861.4 + 12 2092 c.1701G>T c.(1699-1701)tcG>tcT p.S567S WWC3_ENST00000454666.1_Silent_p.S567S NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 52 CATGTCTGTCGGATTATTCGC 0.522000 0 SO:0001819 synonymous_variant ENST00000380861.4 0 1 hg19 CCDS14136.1 . . . . . . . . . . G 0.080 -1.186238 0.01620 . . ENSG00000047644 ENST00000398613 . . . 4.72 -9.45 0.00600 . . . . . . . . . . . 0.51012 D 0.999909 . . . . . . . . . . . . . -12.7766 1.7556 0.02981 0.4469:0.1995:0.1384:0.2152 . . . . X 572 . . G + 1 0 WWC3 10050729 0.002000 0.14202 0.000000 0.03702 0.017000 0.09413 -1.599000 0.02085 -3.243000 0.00206 -0.926000 0.02714 GGA TCGA-HZ-A77Q-01A-11D-A36O-08 WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055725.1 0 0 0 14 1301 0 401 0 2.460135e-02 0 21 0 401 2 0 0 0 0 0 2 1 0.999713 13 1279 0 396 2 0 0 0 0 401 2 -1.856401 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.090000 0.040000 0.150000 0.100000 0.098770 0.090000 0 6.000000e-02 1.200000e-01 DOCK11 139818 broad.mit.edu 37 X 117796744 117796744 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:117796744C>A ENST00000276202.7 + 45 5128 c.5065C>A c.(5065-5067)Cat>Aat p.H1689N DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N NM_144658.3 NP_653259.3 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 84 GATGGATGTCCATTATAGTGA 0.338000 0 SO:0001583 missense ENST00000276202.7 0 1 hg19 CCDS35373.1 . . . . . . . . . . C 12.57 1.978984 0.34942 . . ENSG00000147251 ENST00000276204;ENST00000276202 T;T 0.18016 2.24;2.24 5.61 5.61 0.85477 . 0.052227 0.85682 D 0.000000 T 0.24392 0.0591 M 0.64997 1.995 0.36635 D 0.876492 P;P 0.46020 0.871;0.871 P;P 0.46237 0.508;0.508 T 0.12708 -1.0537 10 0.51188 T 0.08 -15.4143 11.2768 0.49172 0.0:0.9153:0.0:0.0847 . 1689;1689 A6NIW2;Q5JSL3 .;DOC11_HUMAN N 1689 ENSP00000276204:H1689N;ENSP00000276202:H1689N ENSP00000276202:H1689N H + 1 0 DOCK11 117680772 0.994000 0.37717 1.000000 0.80357 0.998000 0.95712 2.358000 0.44134 2.493000 0.84123 0.600000 0.82982 CAT TCGA-HZ-A77Q-01A-11D-A36O-08 DOCK11-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000356002.1 0 0 0 8 296 0 57 0 3.160310e-01 0 39 0 57 2 0 0 0 0 0 2 1 0.988736 8 290 0 57 2 0 0 0 0 57 2 -3.059626 1 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.230000 0.110000 0.420000 0.220000 0.252932 0.230000 0 1.600000e-01 3.300000e-01 IL13RA1 3597 broad.mit.edu 37 X 117925772 117925772 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:117925772C>A ENST00000371666.3 + 11 1306 c.1239C>A c.(1237-1239)acC>acA p.T413T IL13RA1_ENST00000371637.3_Silent_p.T212T NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 12 AGGAGGAAACCGACTCTGTAG 0.393000 0 SO:0001819 synonymous_variant ENST00000371666.3 0 1 hg19 CCDS14573.1 TCGA-HZ-A77Q-01A-11D-A36O-08 IL13RA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058009.1 0 0 0 9 513 1 128 0 9.291015e-02 0 254 1 128 9 0 0 0 0 0 2 0 0.138855 9 504 1 127 15 0 0 0 1 128 2 -2.413749 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.150000 0.070000 0.270000 0.150000 0.164869 0.150000 0 1.000000e-01 2.100000e-01 FRMPD4 9758 broad.mit.edu 37 X 12736390 12736390 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:12736390C>A ENST00000380682.1 + 16 3951 c.3445C>A c.(3445-3447)Cgc>Agc p.R1149S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 22 TCAAGGGGACCGCTTCTTAAC 0.547000 0 SO:0001583 missense ENST00000380682.1 0 1 hg19 CCDS35201.1 . . . . . . . . . . C 4.574 0.106565 0.08780 . . ENSG00000169933 ENST00000380682;ENST00000429478;ENST00000304087 T 0.05382 3.45 5.4 3.44 0.39384 . 0.470669 0.24506 N 0.037922 T 0.02494 0.0076 N 0.03115 -0.41 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.47114 -0.9142 10 0.12430 T 0.62 -3.5221 7.3842 0.26872 0.299:0.6019:0.0:0.0991 . 1141;1149 B7ZLE1;Q14CM0 .;FRPD4_HUMAN S 1149;1140;1138 ENSP00000370057:R1149S ENSP00000304583:R1138S R + 1 0 FRMPD4 12646311 0.028000 0.19301 0.989000 0.46669 0.915000 0.54546 1.772000 0.38552 1.052000 0.40392 0.600000 0.82982 CGC TCGA-HZ-A77Q-01A-11D-A36O-08 FRMPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055771.1 0 0 0 12 1020 0 260 0 0 0 0 260 2 0 0 0 0 0 2 1 0.998997 11 1001 0 258 2 0 0 0 0 260 2 -1.981362 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.100000 0.040000 0.170000 0.100000 0.108955 0.100000 0 7.000000e-02 1.400000e-01 MMGT1 93380 broad.mit.edu 37 X 135049610 135049610 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:135049610C>A ENST00000305963.2 - 3 562 c.175G>T c.(175-177)Ggt>Tgt p.G59C MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 3 TGAACTATACCGTAACAGGTA 0.318000 0 SO:0001583 missense ENST00000305963.2 0 1 hg19 CCDS14653.1 . . . . . . . . . . C 24.6 4.545456 0.86022 . . ENSG00000169446 ENST00000305963;ENST00000433339 . . . 5.2 5.2 0.72013 . 0.000000 0.85682 D 0.000000 D 0.83285 0.5221 M 0.82823 2.61 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.86167 0.1597 9 0.87932 D 0 . 16.9176 0.86155 0.0:1.0:0.0:0.0 . 124;59 Q8N4V1-2;Q8N4V1 .;MMGT1_HUMAN C 59;124 . ENSP00000306220:G59C G - 1 0 MMGT1 134877276 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.445000 0.80570 2.289000 0.77006 0.600000 0.82982 GGT TCGA-HZ-A77Q-01A-11D-A36O-08 MMGT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058453.3 0 0 0 13 880 0 192 0 2.960969e-02 0 17 0 192 2 0 0 0 0 0 2 1 0.999478 13 869 0 189 2 0 0 0 0 192 2 -1.781452 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.120000 0.060000 0.210000 0.120000 0.135495 0.120000 0 9.000000e-02 1.700000e-01 ATP11C 286410 broad.mit.edu 37 X 138865392 138865392 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:138865392C>A ENST00000327569.3 - 17 1808 c.1710G>T c.(1708-1710)tcG>tcT p.S570S ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR NM_173694.4 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 75 Acute lymphoblastic leukemia(192;0.000127) GAAAAACTGCCGAGTCTGCTC 0.383000 0 SO:0001819 synonymous_variant ENST00000327569.3 0 1 hg19 CCDS14668.1 . . . . . . . . . . C 7.823 0.718142 0.15372 . . ENSG00000101974 ENST00000422228 . . . 5.03 -0.535 0.11879 . . . . . T 0.38878 0.1057 . . . 0.80722 D 1 . . . . . . T 0.25745 -1.0123 4 . . . . 0.1686 0.00111 0.3292:0.1618:0.2295:0.2795 . . . . L 122 . . R - 2 0 ATP11C 138693058 0.034000 0.19679 0.888000 0.34837 0.862000 0.49288 -0.918000 0.04021 -0.124000 0.11724 -1.375000 0.01183 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 ATP11C-008 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000354945.1 0 0 0 13 822 0 199 0 3.005734e-02 0 16 0 199 2 0 0 0 0 0 2 1 0.999441 10 803 0 197 2 0 0 0 0 199 2 -2.159076 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.130000 0.070000 0.220000 0.140000 0.144847 0.130000 0 1.000000e-01 1.800000e-01 CXorf22 170063 broad.mit.edu 37 X 35993949 35993949 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:35993949C>A ENST00000297866.5 + 15 2698 c.2632C>A c.(2632-2634)Cgt>Agt p.R878S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 44 ATTGTATAATCGTCAGAATTG 0.403000 0 SO:0001583 missense ENST00000297866.5 0 1 hg19 CCDS14237.2 . . . . . . . . . . C 8.055 0.766948 0.15983 . . ENSG00000165164 ENST00000297866 T 0.14022 2.54 5.31 3.49 0.39957 . 0.893270 0.09773 N 0.757696 T 0.10465 0.0256 L 0.38175 1.15 0.09310 N 0.999997 P 0.37141 0.584 B 0.37047 0.24 T 0.24977 -1.0145 10 0.09084 T 0.74 -2.0E-4 7.3829 0.26866 0.1665:0.7418:0.0:0.0917 . 878 Q6ZTR5 CX022_HUMAN S 878 ENSP00000297866:R878S ENSP00000297866:R878S R + 1 0 CXorf22 35903870 0.970000 0.33590 0.244000 0.24202 0.047000 0.14425 2.312000 0.43726 0.409000 0.25649 0.600000 0.82982 CGT TCGA-HZ-A77Q-01A-11D-A36O-08 CXorf22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056216.2 0 0 0 14 865 1 213 0 0 0 1 213 2 0 0 0 0 0 2 1 0.473637 15 844 1 212 15 0 0 0 1 213 2 -2.745912 1 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.130000 0.070000 0.220000 0.140000 0.147473 0.130000 0 1.000000e-01 1.800000e-01 USP9X 8239 broad.mit.edu 37 X 41045841 41045841 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:41045841C>A ENST00000324545.8 + 24 4263 c.3630C>A c.(3628-3630)tcC>tcA p.S1210S USP9X_ENST00000378308.2_Silent_p.S1210S NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked p.S1203S(1) 87 ATCCATCATCCGAGTGCATGC 0.403000 Ovarian(172;1807 2695 35459 49286) 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000324545.8 0 1 hg19 CCDS43930.1 TCGA-HZ-A77Q-01A-11D-A36O-08 USP9X-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000056250.4 0 0 0 8 708 0 174 0 1.170146e-01 0 46 0 174 2 0 0 0 0 0 2 1 0.988325 8 691 0 172 2 0 0 0 0 174 2 -2.364394 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.090000 0.040000 0.180000 0.100000 0.108471 0.090000 0 6.000000e-02 1.400000e-01 FOXP3 50943 broad.mit.edu 37 X 49113997 49113997 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:49113997C>T ENST00000376207.4 - 4 528 c.341G>A c.(340-342)cGg>cAg p.R114Q FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q NM_014009.3 NP_054728.2 Q9BZS1 FOXP3_HUMAN forkhead box P3 10 Ovarian(276;0.236) CACAGGGGTCCGGGCGTGGGC 0.682000 GBM(182;1432 2112 16160 23073 31774) 0 SO:0001583 missense ENST00000376207.4 0 1 hg19 CCDS14323.1 . . . . . . . . . . C 12.91 2.079527 0.36662 . . ENSG00000049768 ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775 D;D;D;D;D;D 0.98120 -3.67;-3.73;-4.73;-3.73;-4.68;-4.13 5.34 4.47 0.54385 . 0.229124 0.30791 N 0.008864 D 0.92561 0.7637 N 0.19112 0.55 0.28547 N 0.91181 B;B;B;B;B 0.31435 0.174;0.323;0.226;0.174;0.266 B;B;B;B;B 0.21708 0.007;0.018;0.036;0.007;0.027 D 0.87553 0.2466 10 0.38643 T 0.18 . 8.6545 0.34055 0.0:0.8895:0.0:0.1105 . 114;114;79;114;79 B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2 .;.;.;FOXP3_HUMAN;. Q 114;79;79;79;64;114 ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q ENSP00000365369:R64Q R - 2 0 FOXP3 49000941 0.999000 0.42202 0.966000 0.40874 0.913000 0.54294 0.873000 0.28052 1.119000 0.41883 0.513000 0.50165 CGG TCGA-HZ-A77Q-01A-11D-A36O-08 FOXP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060814.1 1 0 1 10 78 0 17 0 5.457744e-01 0 15 0 17 2 0 0 0 0 0 2 1 0.997283 10 77 0 16 2 0 0 0 0 17 2 -7.268423 1 1 120744 4 30 1 0 1 1 0.230000 1.890000 0.230000 0.990000 0.520000 1.000000 1.000000 0.898187 0.990000 1 7.300000e-01 1 ZC3H12B 340554 broad.mit.edu 37 X 64719034 64719034 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:64719034C>A ENST00000338957.4 + 3 971 c.904C>A c.(904-906)Cga>Aga p.R302R ZC3H12B_ENST00000423889.3_Silent_p.R291R NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 29 TGATAACTACCGAGACCTTCA 0.443000 0 SO:0001819 synonymous_variant ENST00000338957.4 0 1 hg19 CCDS48131.2 TCGA-HZ-A77Q-01A-11D-A36O-08 ZC3H12B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378734.2 0 0 0 7 337 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 0.979844 7 332 0 92 2 0 0 0 0 92 2 -2.495838 0 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.180000 0.080000 0.340000 0.180000 0.199089 0.180000 0 1.200000e-01 2.600000e-01 MSN 4478 broad.mit.edu 37 X 64949377 64949377 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:64949377C>A ENST00000360270.5 + 4 442 c.270C>A c.(268-270)tcC>tcA p.S90S NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin p.S90S(2) MSN/ALK(6) 43 AGGATGTGTCCGAGGAATTGA 0.517000 T ALK ALCL Dom yes X Xq11.2-q12 4478 moesin L 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000360270.5 0 1 hg19 CCDS14382.1 TCGA-HZ-A77Q-01A-11D-A36O-08 MSN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056981.1 0 0 0 9 512 0 121 0 8.879128e-01 0 223 0 121 2 0 0 0 0 0 2 1 0.993596 9 499 0 121 2 0 0 0 0 121 2 -2.714086 1 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.150000 0.070000 0.270000 0.150000 0.165182 0.150000 0 1.000000e-01 2.100000e-01 EDA2R 60401 broad.mit.edu 37 X 65819559 65819559 + Missense_Mutation SNP C C T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:65819559C>T ENST00000374719.3 - 6 717 c.661G>A c.(661-663)Gac>Aac p.D221N EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N NM_021783.3 NP_068555 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 13 GAGCTGCAGTCGTCCTCGAGG 0.577000 0 SO:0001583 missense ENST00000374719.3 1 1 hg19 CCDS14386.1 . . . . . . . . . . C 12.21 1.868958 0.32977 . . ENSG00000131080 ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752 D;D;D;D;D 0.84800 -1.82;-1.82;-1.9;-1.82;-1.9 3.45 3.45 0.39498 . 0.596206 0.13903 N 0.354801 T 0.72859 0.3513 L 0.27053 0.805 0.29256 N 0.871661 P;B;B 0.36125 0.538;0.054;0.004 B;B;B 0.26416 0.069;0.004;0.002 T 0.66602 -0.5882 10 0.32370 T 0.25 -5.3956 11.6654 0.51370 0.0:1.0:0.0:0.0 . 97;242;221 E7EUS4;Q9HAV5-2;Q9HAV5 .;.;TNR27_HUMAN N 221;221;97;242;221;242 ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N ENSP00000253392:D242N D - 1 0 EDA2R 65736284 0.005000 0.15991 0.832000 0.32986 0.881000 0.50899 0.252000 0.18278 1.573000 0.49748 0.523000 0.50628 GAC TCGA-HZ-A77Q-01A-11D-A36O-08 EDA2R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057002.1 1 0 0 13 99 0 27 0 1.574213e-02 0 2 0 27 2 0 0 0 0 0 2 1 0.999596 12 98 0 25 2 0 0 0 0 27 2 -19.907100 1 1 121332 2 29 1 0 1 1 0.230000 1.890000 0.230000 0.990000 0.580000 1.000000 1.000000 0.915876 0.990000 1 7.700000e-01 1 ARR3 407 broad.mit.edu 37 X 69497974 69497974 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:69497974C>A ENST00000307959.8 + 11 804 c.753C>A c.(751-753)ttC>ttA p.F251L ARR3_ENST00000374495.3_Missense_Mutation_p.F251L NM_004312.2 NP_004303.2 P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 16 AGACTGTGTTCATTCAGGAAT 0.512000 0 SO:0001583 missense ENST00000307959.8 0 1 hg19 CCDS14399.1 . . . . . . . . . . C 14.06 2.423118 0.43020 . . ENSG00000120500 ENST00000374495;ENST00000374480;ENST00000307959 T;T 0.16196 2.36;2.36 4.45 2.62 0.31277 Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1); 0.463590 0.25622 N 0.029404 T 0.07279 0.0184 N 0.04162 -0.26 0.33290 D 0.563337 P;B 0.38280 0.625;0.001 B;B 0.34931 0.192;0.002 T 0.23547 -1.0185 10 0.44086 T 0.13 . 9.4817 0.38904 0.0:0.8173:0.0:0.1827 . 251;251 P36575;P36575-2 ARRC_HUMAN;. L 251 ENSP00000363619:F251L;ENSP00000311538:F251L ENSP00000311538:F251L F + 3 2 ARR3 69414699 0.664000 0.27457 0.266000 0.24541 0.988000 0.76386 1.268000 0.33062 0.260000 0.21731 0.513000 0.50165 TTC TCGA-HZ-A77Q-01A-11D-A36O-08 ARR3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057055.2 0 0 0 8 349 0 86 0 0 0 0 86 2 0 0 0 0 0 2 1 0.988816 6 345 0 83 2 0 0 0 0 86 2 -8.121649 1 0 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.200000 0.090000 0.360000 0.200000 0.215943 0.200000 0 1.400000e-01 2.800000e-01 KIAA2022 340533 broad.mit.edu 37 X 73963428 73963428 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:73963428G>T ENST00000055682.6 - 3 1575 c.964C>A c.(964-966)Cga>Aga p.R322R NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 p.R322*(1) 109 GTCTTGTCTCGAACATTGTCC 0.438000 1 Substitution - Nonsense(1) SO:0001819 synonymous_variant ENST00000055682.6 0 1 hg19 CCDS35337.1 TCGA-HZ-A77Q-01A-11D-A36O-08 KIAA2022-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057270.2 0 0 0 8 594 0 156 0 0 0 0 156 2 0 0 0 0 0 2 1 0.989074 8 589 0 156 2 0 0 0 0 156 2 -2.881833 1 1 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.110000 0.050000 0.220000 0.120000 0.128834 0.110000 0 8.000000e-02 1.700000e-01 SHROOM2 357 broad.mit.edu 37 X 9864330 9864330 + Silent SNP T T C TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2d43659-5e8e-437d-80e0-3329a8d37921 861900ca-0f42-4b5a-a3ff-506380bc488d g.chrX:9864330T>C ENST00000380913.3 + 4 2472 c.2382T>C c.(2380-2382)ttT>ttC p.F794F NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 57 Hepatocellular(5;0.000888) TGGGCACGTTTGCTGACAGGT 0.557000 0 SO:0001819 synonymous_variant ENST00000380913.3 1 1 hg19 CCDS14135.1 TCGA-HZ-A77Q-01A-11D-A36O-08 SHROOM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055721.1 1 0 0 36 224 0 71 0 0 0 0 71 2 0 0 0 0 0 2 1 1.000000 35 222 0 68 2 0 0 0 0 71 2 -20.000000 1 0 0 0 1 0 1 1 0.230000 1.890000 0.230000 0.990000 0.860000 1.000000 1.000000 0.990567 0.990000 1 9.900000e-01 1