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 TMEM180 79847 broad.mit.edu 37 10 104235646 104235646 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:104235646T>C ENST00000238936.4 + 10 1696 c.1459T>C c.(1459-1461)Tcc>Ccc p.S487P TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 13 Colorectal(252;0.122) CTTCACCTGGTCCCAGTTCAC 0.627000 0 SO:0001583 missense ENST00000238936.4 0 1 hg19 CCDS7535.1 . . . . . . . . . . t 17.56 3.420014 0.62622 . . ENSG00000138111 ENST00000366277;ENST00000238936;ENST00000369930 . . . 4.82 3.69 0.42338 . 0.102864 0.64402 N 0.000002 T 0.69967 0.3170 M 0.80028 2.48 0.51767 D 0.999933 D 0.60160 0.987 D 0.63488 0.915 T 0.67745 -0.5591 9 0.36615 T 0.2 . 6.8488 0.24003 0.134:0.0755:0.0:0.7905 . 487 Q14CX5 TM180_HUMAN P 216;487;216 . ENSP00000238936:S487P S + 1 0 TMEM180 104225636 1.000000 0.71417 1.000000 0.80357 0.588000 0.36517 6.216000 0.72212 0.820000 0.34516 0.255000 0.18592 TCC TCGA-LB-A9Q5-01A-11D-A397-08 TMEM180-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050075.2 0 0 0 4 146 0 36 0 1.289990e-03 0 2 0 36 2 0 0 0 0 0 2 1 0.884969 4 142 0 36 2 0 0 0 0 0 2 -6.590775 1 1 121412 2 31 1 0 0 0 1.954183 0 0.240000 2 0.219392 0.230000 0.070000 0.500000 0.210000 0.260596 0.230000 0 0.140000 0.370000 EIF3A 8661 broad.mit.edu 37 10 120801889 120801889 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:120801889G>A ENST00000369144.3 - 19 3270 c.3143C>T c.(3142-3144)cCg>cTg p.P1048L EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3, subunit A 56 Lung NSC(174;0.094)|all_lung(145;0.123) TCCTCGCCTCGGCCCCCGGTC 0.607000 0 SO:0001583 missense ENST00000369144.3 0 1 hg19 CCDS7608.1 . . . . . . . . . . G 12.37 1.917505 0.33815 . . ENSG00000107581 ENST00000369144;ENST00000541549 T;T 0.25579 1.79;1.8 5.41 0.456 0.16655 . 0.187445 0.25433 N 0.030713 T 0.22820 0.0551 M 0.76002 2.32 0.80722 D 1 P;B 0.37061 0.58;0.002 B;B 0.26202 0.067;0.001 T 0.06463 -1.0825 10 0.49607 T 0.09 -0.3992 10.0066 0.41961 0.3389:0.0:0.6611:0.0 . 1014;1048 F5H335;Q14152 .;EIF3A_HUMAN L 1048;1014 ENSP00000358140:P1048L;ENSP00000438178:P1014L ENSP00000358140:P1048L P - 2 0 EIF3A 120791879 0.989000 0.36119 0.065000 0.19835 0.956000 0.61745 1.972000 0.40540 -0.059000 0.13154 -0.126000 0.14955 CCG TCGA-LB-A9Q5-01A-11D-A397-08 EIF3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050634.1 0 0 0 9 760 1 231 0 1.273683e-01 3 189 1 231 5 0 0 0 0 0 2 0 0.253193 9 754 1 227 13 0 0 0 0 0 2 -2.101591 0 1 121412 1 35 1 0 0 0 1.954183 0 0.240000 2 0.219392 0.090000 0.040000 0.170000 0.090000 0.104748 0.090000 0 0.060000 0.140000 PBLD 64081 broad.mit.edu 37 10 70056061 70056061 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:70056061G>A ENST00000358769.2 - 4 447 c.245C>T c.(244-246)gCc>gTc p.A82V PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 21 AGCCAGGGTGGCATGGCCACA 0.423000 0 SO:0001583 missense ENST00000358769.2 1 1 hg19 CCDS7277.2 . . . . . . . . . . G 24.3 4.517219 0.85495 . . ENSG00000108187 ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941 T;T;T;T 0.44083 0.93;0.93;0.93;0.93 5.67 4.76 0.60689 . 0.058094 0.64402 D 0.000002 T 0.74741 0.3756 H 0.96269 3.795 0.54753 D 0.99998 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.83322 -0.0017 10 0.87932 D 0 -10.1697 13.9539 0.64135 0.0:0.1521:0.8479:0.0 . 82;82 C9JIM0;P30039 .;PBLD_HUMAN V 49;82;82;82 ENSP00000338041:A49V;ENSP00000351619:A82V;ENSP00000308466:A82V;ENSP00000395534:A82V ENSP00000308466:A82V A - 2 0 PBLD 69726067 1.000000 0.71417 0.923000 0.36655 0.851000 0.48451 5.741000 0.68638 1.378000 0.46305 0.561000 0.74099 GCC TCGA-LB-A9Q5-01A-11D-A397-08 PBLD-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048314.1 0 0 0 5 200 0 54 0 2.793004e-01 0 36 0 54 2 0 0 0 0 0 2 1 0.938308 5 200 0 54 2 0 0 0 0 0 2 -3.167927 1 1 0 0 1 0 0 0 1.954183 0 0.240000 2 0.219392 0.210000 0.070000 0.420000 0.200000 0.231107 0.210000 0 0.130000 0.320000 HK1 3098 broad.mit.edu 37 10 71119706 71119706 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:71119706C>T ENST00000359426.6 + 3 384 c.280C>T c.(280-282)Cgg>Tgg p.R94W HK1_ENST00000448642.2_Missense_Mutation_p.R129W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W NM_000188.2 NP_000179.2 P19367 HXK1_HUMAN hexokinase 1 35 TCGAATTCTGCGGGTGCAAGT 0.478000 0 SO:0001583 missense ENST00000359426.6 0 1 hg19 CCDS7292.1 . . . . . . . . . . C 15.99 2.995975 0.54147 . . ENSG00000156515 ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407 T;T;T;T;T;T;T;T 0.56103 0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48 5.51 3.59 0.41128 Hexokinase, N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.49457 0.1558 M 0.67625 2.065 0.80722 D 1 B;B;B;B;B 0.19817 0.006;0.016;0.029;0.039;0.003 B;B;B;B;B 0.15484 0.006;0.013;0.013;0.013;0.002 T 0.41088 -0.9528 10 0.25751 T 0.34 -2.9677 13.4228 0.61007 0.434:0.566:0.0:0.0 . 94;93;129;98;82 P19367;P19367-2;E7ENR4;P19367-3;P19367-4 HXK1_HUMAN;.;.;.;. W 98;82;129;82;98;93;93;94;94 ENSP00000409761:R98W;ENSP00000353433:R82W;ENSP00000402103:R129W;ENSP00000398316:R82W;ENSP00000384774:R98W;ENSP00000415949:R93W;ENSP00000298649:R93W;ENSP00000352398:R94W ENSP00000298649:R93W R + 1 2 HK1 70789712 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.964000 0.49192 0.621000 0.30232 0.561000 0.74099 CGG TCGA-LB-A9Q5-01A-11D-A397-08 HK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048429.2 0 0 0 6 440 0 135 0 1.184928e-01 0 37 0 135 2 0 0 0 0 0 2 1 0.964225 6 436 0 133 2 0 0 0 0 0 2 -1.992832 0 1 121412 1 33 1 0 0 0 1.954183 0 0.240000 2 0.219392 0.110000 0.040000 0.220000 0.110000 0.125763 0.110000 0 0.070000 0.170000 DPAGT1 1798 broad.mit.edu 37 11 118971495 118971495 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:118971495G>A ENST00000409993.2 - 5 1892 c.341C>T c.(340-342)gCg>gTg p.A114V DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) TACATCATCCGCAAAGCCCAG 0.567000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000409993.2 0 1 hg19 CCDS8411.1 . . . . . . . . . . G 26.0 4.692412 0.88735 . . ENSG00000172269 ENST00000409993;ENST00000354202;ENST00000432443 D;D;D 0.92348 -3.02;-3.02;-3.02 5.38 5.38 0.77491 . 0.000000 0.85682 D 0.000000 D 0.87249 0.6130 L 0.32530 0.975 0.80722 D 1 P;B 0.41393 0.748;0.219 B;B 0.33890 0.172;0.09 D 0.88514 0.3091 10 0.54805 T 0.06 -32.643 18.1546 0.89687 0.0:0.0:1.0:0.0 . 7;114 E7EW40;Q9H3H5 .;GPT_HUMAN V 114;114;7 ENSP00000386597:A114V;ENSP00000346142:A114V;ENSP00000404036:A7V ENSP00000346142:A114V A - 2 0 DPAGT1 118476705 1.000000 0.71417 0.986000 0.45419 0.998000 0.95712 9.869000 0.99810 2.524000 0.85096 0.563000 0.77884 GCG TCGA-LB-A9Q5-01A-11D-A397-08 DPAGT1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331527.2 0 0 0 4 186 0 38 0 3.631737e-01 0 50 0 38 2 0 0 0 0 0 2 1 0.890011 4 185 0 38 2 0 0 0 0 0 2 -2.966489 1 1 121412 3 31 1 1 2 3 2.001681 0 0.240000 2 0.241820 0.190000 0.060000 0.460000 0.180000 0.221662 0.190000 0 0.110000 0.310000 ROBO4 54538 broad.mit.edu 37 11 124761327 124761327 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:124761327G>A ENST00000306534.3 - 12 2301 c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) GGTGGGAGGCGCCTGACAGCT 0.662000 0 SO:0001583 missense ENST00000306534.3 1 1 hg19 CCDS8455.1 . . . . . . . . . . G 8.823 0.937980 0.18206 . . ENSG00000154133 ENST00000306534;ENST00000374963;ENST00000533054 T;T 0.64991 -0.13;0.24 6.11 1.95 0.26073 . 0.389841 0.19154 N 0.121379 T 0.52468 0.1736 M 0.65975 2.015 0.34129 D 0.665067 B;B;B 0.13145 0.007;0.001;0.004 B;B;B 0.08055 0.002;0.001;0.003 T 0.52094 -0.8621 10 0.33141 T 0.24 . 4.1764 0.10353 0.2735:0.0:0.5689:0.1575 . 606;496;606 Q8WZ75-2;Q8WZ75-3;Q8WZ75 .;.;ROBO4_HUMAN C 606;496;461 ENSP00000304945:R606C;ENSP00000437129:R461C ENSP00000304945:R606C R - 1 0 ROBO4 124266537 0.937000 0.31787 0.452000 0.26994 0.311000 0.27955 0.378000 0.20569 0.419000 0.25927 -0.137000 0.14449 CGC TCGA-LB-A9Q5-01A-11D-A397-08 ROBO4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387111.1 1 0 0 12 178 0 53 0 3.679494e-01 0 19 0 53 2 0 0 0 0 0 2 1 0.999130 12 175 0 51 2 0 0 0 0 0 2 -3.321142 1 1 121394 5 36 1 1 2 3 2.001681 0 0.240000 2 0.241820 0.540000 0.290000 0.920000 0.520000 0.560290 0.540000 0 0.400000 0.710000 ABTB2 25841 broad.mit.edu 37 11 34226220 34226220 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:34226220C>T ENST00000435224.2 - 2 1325 c.901G>A c.(901-903)Gca>Aca p.A301T ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGAAGTATGCGGGGAGGGAG 0.637000 0 SO:0001583 missense ENST00000435224.2 0 1 hg19 CCDS7890.2 . . . . . . . . . . C 15.97 2.989268 0.53934 . . ENSG00000166016 ENST00000435224;ENST00000298992 T;T 0.60040 0.22;0.22 5.1 5.1 0.69264 Histone-fold (2); 0.060615 0.64402 D 0.000004 T 0.43055 0.1230 L 0.42245 1.32 0.53005 D 0.999969 P 0.48640 0.913 B 0.33121 0.158 T 0.40942 -0.9536 10 0.21014 T 0.42 -16.1742 14.1808 0.65574 0.0:0.8504:0.1496:0.0 . 115 Q8N961 ABTB2_HUMAN T 301;115 ENSP00000410157:A301T;ENSP00000298992:A115T ENSP00000298992:A115T A - 1 0 ABTB2 34182796 1.000000 0.71417 0.253000 0.24343 0.787000 0.44495 5.696000 0.68287 2.366000 0.80165 0.455000 0.32223 GCA TCGA-LB-A9Q5-01A-11D-A397-08 ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388703.3 0 0 0 4 160 0 49 0 6.138717e-03 0 4 0 49 2 0 0 0 0 0 2 1 0.849843 4 136 0 39 2 0 0 0 0 0 2 -3.568985 1 1 0 0 1 1 2 3 2.001681 0 0.240000 2 0.241820 0.220000 0.070000 0.530000 0.200000 0.254202 0.220000 0 0.130000 0.360000 OR52B4 143496 broad.mit.edu 37 11 4389022 4389022 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:4389022C>T ENST00000408920.2 - 1 594 c.504G>A c.(502-504)ttG>ttA p.L168L NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) GGCAGAAAGTCAATCTTTTTA 0.343000 0 SO:0001819 synonymous_variant ENST00000408920.2 1 1 hg19 CCDS41609.1 TCGA-LB-A9Q5-01A-11D-A397-08 OR52B4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334449.3 0 0 0 11 360 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 0.998392 11 360 0 109 2 0 0 0 0 0 2 -11.020770 1 1 0 0 1 1 2 3 2.001681 0 0.240000 2 0.241820 0.250000 0.130000 0.450000 0.240000 0.273660 0.250000 0 0.180000 0.340000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-LB-A9Q5-01A-11D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 16 334 0 81 1 9.844747e-02 4 7 0 81 2 1 9.993871e-01 26 469 1 542 6 1 0.999930 16 329 0 79 2 1 1 607 7421 8 8005 17 -4.738191 1 1 121404 2 44 1 1 2 3 2.003470 0 0.240000 2 0.241820 0.380000 0.230000 0.630000 0.380000 0.405703 0.380000 0 0.300000 0.500000 CCND2 894 broad.mit.edu 37 12 4387932 4387932 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:4387932G>A ENST00000261254.3 + 3 687 c.418G>A c.(418-420)Gaa>Aaa p.E140K RP11-264F23.3_ENST00000539135.1_RNA NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CCAGGAGTGGGAACTGGTGGT 0.562000 T IGL@ NHL,CLL Dom yes 12 12p13 894 cyclin D2 L 0 SO:0001583 missense ENST00000261254.3 0 1 hg19 CCDS8524.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 27.7|27.7 4.856601|4.856601 0.91355|0.91355 .|. .|. ENSG00000118971|ENSG00000118971 ENST00000261254|ENST00000536537 T|. 0.45276|. 0.9|. 4.79|4.79 4.79|4.79 0.61399|0.61399 Cyclin, N-terminal (1);Cyclin-like (3);|. 0.000000|. 0.85682|. D|. 0.000000|. D|D 0.88698|0.88698 0.6507|0.6507 H|H 0.97783|0.97783 4.075|4.075 0.80722|0.80722 D|D 1|1 D|. 0.89917|. 1.0|. D|. 0.97110|. 1.0|. D|D 0.93199|0.93199 0.6590|0.6590 10|5 0.87932|. D|. 0|. .|. 16.8234|16.8234 0.85924|0.85924 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 140|. P30279|. CCND2_HUMAN|. K|E 140|55 ENSP00000261254:E140K|. ENSP00000261254:E140K|. E|G +|+ 1|2 0|0 CCND2|CCND2 4258193|4258193 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.870000|0.870000 0.49936|0.49936 9.860000|9.860000 0.99555|0.99555 2.198000|2.198000 0.70561|0.70561 0.561000|0.561000 0.74099|0.74099 GAA|GGA TCGA-LB-A9Q5-01A-11D-A397-08 CCND2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398287.1 0 0 0 8 340 0 105 0 3.934855e-02 0 12 0 105 2 0 0 0 0 0 2 1 0.989323 8 338 0 104 2 0 0 0 0 0 2 -3.284531 1 1 0 0 1 1 2 3 2.012032 0 0.240000 2 0.244533 0.200000 0.090000 1.000000 0.190000 0.243523 0.200000 0 0.140000 0.300000 ATP5B 506 broad.mit.edu 37 12 57037309 57037309 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:57037309C>T ENST00000262030.3 - 5 720 c.670G>A c.(670-672)Gcc>Acc p.A224T ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide p.A224T(1) 19 TGGGCTTTGGCGACATTGTTG 0.413000 1 Substitution - Missense(1) SO:0001583 missense ENST00000262030.3 0 1 hg19 CCDS8924.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 1|1 0.0013192612137203166|0.0013192612137203166 C|C 27.9|27.9 4.873953|4.873953 0.91664|0.91664 .|. .|. ENSG00000110955|ENSG00000110955 ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959 T;T;T;T;T|. 0.79352|. -1.26;-1.26;-1.26;-1.26;-1.26|. 5.9|5.9 5.9|5.9 0.94986|0.94986 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|. 0.099413|. 0.64402|. D|. 0.000002|. D|D 0.84009|0.84009 0.5378|0.5378 M|M 0.87381|0.87381 2.88|2.88 0.80722|0.80722 D|D 1|1 D|. 0.76494|. 0.999|. D|. 0.66084|. 0.941|. D|D 0.85062|0.85062 0.0935|0.0935 10|5 0.87932|. D|. 0|. -3.7647|-3.7647 19.0535|19.0535 0.93054|0.93054 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 224|. P06576|. ATPB_HUMAN|. T|H 224;224;163;17;125|160 ENSP00000262030:A224T;ENSP00000450297:A224T;ENSP00000446677:A163T;ENSP00000448428:A17T;ENSP00000447571:A125T|. ENSP00000262030:A224T|. A|R -|- 1|2 0|0 ATP5B|ATP5B 55323576|55323576 1.000000|1.000000 0.71417|0.71417 0.966000|0.966000 0.40874|0.40874 0.993000|0.993000 0.82548|0.82548 7.688000|7.688000 0.84153|0.84153 2.786000|2.786000 0.95864|0.95864 0.563000|0.563000 0.77884|0.77884 GCC|CGC TCGA-LB-A9Q5-01A-11D-A397-08 ATP5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408380.1 0 0 0 5 399 1 110 0 3.909988e-02 3 642 1 110 20 0 0 0 0 0 2 0 0.028781 5 396 1 110 14 0 0 0 0 0 2 -2.354045 0 1 121412 1 28 1 0 1 1 1.987129 0 0.240000 2 0.233562 0.100000 0.030000 0.220000 0.100000 0.121130 0.100000 0 0.060000 0.170000 CDC42BPB 9578 broad.mit.edu 37 14 103434632 103434632 + Missense_Mutation SNP C C A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:103434632C>A ENST00000361246.2 - 16 2592 c.2304G>T c.(2302-2304)atG>atT p.M768I NM_006035.3 NP_006026.3 CDC42 binding protein kinase beta (DMPK-like) 49 Melanoma(154;0.155) CATCAAACAGCATCGCTCTTT 0.368000 0 SO:0001583 missense ENST00000361246.2 0 1 hg19 CCDS9978.1 . . . . . . . . . . C 0.788 -0.759973 0.03019 . . ENSG00000198752 ENST00000361246 T 0.63580 -0.05 4.47 2.64 0.31445 . 0.272643 0.42682 N 0.000661 T 0.39545 0.1082 N 0.17082 0.46 0.39110 D 0.961469 B 0.02656 0.0 B 0.01281 0.0 T 0.12041 -1.0563 10 0.23891 T 0.37 . 6.6845 0.23138 0.0:0.706:0.1457:0.1483 . 768 Q9Y5S2 MRCKB_HUMAN I 768 ENSP00000355237:M768I ENSP00000355237:M768I M - 3 0 CDC42BPB 102504385 1.000000 0.71417 0.251000 0.24312 0.079000 0.17450 0.811000 0.27198 0.461000 0.27071 0.561000 0.74099 ATG TCGA-LB-A9Q5-01A-11D-A397-08 CDC42BPB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415711.1 0 0 0 7 411 0 130 1 1.739033e-01 5 34 0 130 2 0 0 0 0 1 2 1 0.979955 7 406 0 129 2 0 0 0 0 0 2 -2.908334 1 1 0 0 1 1 2 3 2.005282 0 0.240000 2 0.241820 0.140000 0.060000 0.300000 0.140000 0.166167 0.140000 0 0.090000 0.210000 SMEK1 55671 broad.mit.edu 37 14 91931722 91931722 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:91931722C>T ENST00000554943.1 - 11 1817 c.1702G>A c.(1702-1704)Gag>Aag p.E568K SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E555K Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) TTGTAAAACTCATCTTTTAAT 0.358000 0 SO:0001583 missense ENST00000554943.1 1 1 hg19 . . . . . . . . . . C 17.96 3.516739 0.64634 . . ENSG00000100796 ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390 T;T;D;T;D;T 0.95001 1.58;1.58;-3.58;1.58;-3.58;1.58 6.15 6.15 0.99193 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.96830 0.8965 M 0.63208 1.945 0.80722 D 1 D;D;D 0.63880 0.974;0.993;0.99 D;P;P 0.70487 0.969;0.901;0.907 D 0.95808 0.8839 10 0.48119 T 0.1 -15.5476 20.8387 0.99724 0.0:1.0:0.0:0.0 . 329;568;555 Q6IN85-4;Q6IN85;Q6IN85-2 .;P4R3A_HUMAN;. K 555;555;329;568;329;555 ENSP00000450864:E555K;ENSP00000337125:E555K;ENSP00000392704:E329K;ENSP00000450883:E568K;ENSP00000450891:E329K;ENSP00000452596:E555K ENSP00000337125:E555K E - 1 0 SMEK1 91001475 1.000000 0.71417 1.000000 0.80357 0.164000 0.22412 7.811000 0.86092 2.932000 0.99384 0.643000 0.83706 GAG TCGA-LB-A9Q5-01A-11D-A397-08 SMEK1-007 KNOWN basic protein_coding protein_coding OTTHUMT00000411665.1 0 0 1 10 293 0 97 1 2.810018e-01 8 21 0 97 2 0 0 0 0 0 2 1 0.996854 10 290 0 96 2 0 0 0 0 0 2 -3.228879 1 1 0 0 1 1 2 3 2.005282 0 0.240000 2 0.241820 0.280000 0.140000 0.520000 0.270000 0.305035 0.280000 0 0.200000 0.390000 CHRNB4 1143 broad.mit.edu 37 15 78922232 78922232 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:78922232C>T ENST00000261751.3 - 5 526 c.415G>A c.(415-417)Ggc>Agc p.G139S RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) p.G139C(1)|p.G139S(1) 22 Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090) AGGACGCTGCCGTTGGACCGG 0.572000 2 Substitution - Missense(2) SO:0001583 missense ENST00000261751.3 0 1 hg19 CCDS10306.1 . . . . . . . . . . C 19.21 3.783372 0.70222 . . ENSG00000117971 ENST00000261751 D 0.97352 -4.35 4.97 4.97 0.65823 Neurotransmitter-gated ion-channel ligand-binding (3); 0.000000 0.85682 D 0.000000 D 0.98924 0.9635 M 0.94142 3.5 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99636 1.0987 10 0.72032 D 0.01 . 18.2167 0.89887 0.0:1.0:0.0:0.0 . 139 P30926 ACHB4_HUMAN S 139 ENSP00000261751:G139S ENSP00000261751:G139S G - 1 0 CHRNB4 76709287 1.000000 0.71417 0.956000 0.39512 0.065000 0.16274 7.766000 0.85320 2.301000 0.77427 0.655000 0.94253 GGC TCGA-LB-A9Q5-01A-11D-A397-08 CHRNB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000290108.1 0 0 0 6 193 0 63 0 0 0 0 63 2 0 0 0 0 0 2 1 0.964573 6 191 0 62 2 0 0 0 0 0 2 -2.882874 1 1 0 0 1 1 2 3 2.026427 0 0.240000 2 0.251674 0.280000 0.110000 1.000000 0.250000 0.364326 0.280000 0 0.180000 0.470000 DET1 55070 broad.mit.edu 37 15 89074164 89074164 + Missense_Mutation SNP C C T rs138430376 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:89074164C>T ENST00000268148.8 - 2 918 c.773G>A c.(772-774)cGc>cAc p.R258H DET1_ENST00000564406.1_Missense_Mutation_p.R269H|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR NM_001144074.1 NP_001137546.1 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ATAGCAAAAGCGGCCAATGGT 0.507000 0 SO:0001583 missense ENST00000268148.8 1 1 hg19 CCDS45344.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 23.0 4.364477 0.82463 . . ENSG00000140543 ENST00000444300;ENST00000268148 . . . 6.17 5.26 0.73747 . 0.000000 0.85682 D 0.000000 T 0.78892 0.4355 M 0.79475 2.455 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.80455 -0.1375 9 0.49607 T 0.09 -36.1175 14.418 0.67163 0.0:0.9302:0.0:0.0698 . 258;269 Q7L5Y6;B3KNN6 DET1_HUMAN;. H 269;258 . ENSP00000268148:R258H R - 2 0 DET1 86875168 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.213000 0.77950 1.620000 0.50308 0.655000 0.94253 CGC TCGA-LB-A9Q5-01A-11D-A397-08 DET1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415442.2 1 0 1 29 249 0 61 0 1.302495e-01 1 5 0 61 2 0 0 0 0 0 2 1 1.000000 29 249 0 60 2 0 0 0 0 0 2 -20.000000 1 1 120958 1 35 1 1 2 3 2.026427 0 0.240000 2 0.251674 0.900000 0.610000 1.000000 1.000000 0.885543 0.900000 1 0.740000 1.000000 C16orf62 57020 broad.mit.edu 37 16 19680556 19680556 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:19680556C>T ENST00000251143.5 + 27 2308 c.2296C>T c.(2296-2298)Cgg>Tgg p.R766W C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000438132.3_Missense_Mutation_p.R855W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 36 TGGGAAGATGCGGCCATCGGA 0.418000 0 SO:0001583 missense ENST00000251143.5 0 1 hg19 . . . . . . . . . . C 20.5 3.995543 0.74703 . . ENSG00000103544 ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695 T;T;T;T;T 0.44881 0.91;0.91;0.91;0.91;0.91 5.51 4.53 0.55603 . 0.000000 0.85682 D 0.000000 T 0.64091 0.2567 M 0.74258 2.255 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.992;0.997 T 0.65113 -0.6247 9 . . . -17.7679 15.8043 0.78481 0.1365:0.8635:0.0:0.0 . 762;766 F5H7K1;Q7Z3J2 .;CP062_HUMAN W 855;762;766;673;616 ENSP00000400815:R855W;ENSP00000442468:R762W;ENSP00000251143:R766W;ENSP00000395973:R673W;ENSP00000398009:R616W . R + 1 2 C16orf62 19588057 1.000000 0.71417 1.000000 0.80357 0.789000 0.44602 4.337000 0.59310 2.604000 0.88044 0.644000 0.83932 CGG TCGA-LB-A9Q5-01A-11D-A397-08 C16orf62-201 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 5 298 0 103 0 2.584223e-01 0 50 0 103 2 0 0 0 0 0 2 1 0.937504 5 297 0 103 2 0 0 0 0 0 2 -2.428440 0 1 0 0 1 1 2 3 2.009028 0 0.240000 2 0.243631 0.150000 0.050000 1.000000 0.140000 0.187131 0.150000 0 0.090000 0.240000 PKD1 5310 broad.mit.edu 37 16 2160250 2160250 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:2160250C>T ENST00000262304.4 - 15 5126 c.4918G>A c.(4918-4920)Ggt>Agt p.G1640S RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 72 TAGCGGCCACCGCCCACCACC 0.617000 0 SO:0001583 missense ENST00000262304.4 0 1 hg19 CCDS32369.1 . . . . . . . . . . c 3.215 -0.160795 0.06502 . . ENSG00000008710 ENST00000262304;ENST00000423118 T;T 0.57907 0.37;0.37 5.3 4.35 0.52113 Polycystin cation channel (1);PKD domain (1); 0.226336 0.45606 D 0.000350 T 0.35189 0.0923 L 0.44542 1.39 0.09310 N 1 P;P 0.46020 0.871;0.683 B;B 0.32805 0.144;0.153 T 0.17531 -1.0366 10 0.22706 T 0.39 . 8.5645 0.33531 0.1357:0.7246:0.0:0.1397 . 1640;1640 P98161-3;P98161 .;PKD1_HUMAN S 1640 ENSP00000262304:G1640S;ENSP00000399501:G1640S ENSP00000262304:G1640S G - 1 0 PKD1 2100251 0.001000 0.12720 0.018000 0.16275 0.014000 0.08584 0.784000 0.26816 0.642000 0.30620 -1.611000 0.00801 GGT TCGA-LB-A9Q5-01A-11D-A397-08 PKD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000341688.1 1 0 0 21 175 0 51 1 3.070657e-01 3 7 0 51 2 0 0 0 0 0 2 1 0.999971 16 132 0 51 2 0 0 0 0 0 2 -3.222029 1 1 120180 3 35 1 1 2 3 2.082312 0 0.240000 2 0.256942 0.950000 0.600000 1.000000 1.000000 0.902585 0.950000 1 0.760000 1.000000 MLKL 197259 broad.mit.edu 37 16 74729301 74729301 + Missense_Mutation SNP C C G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:74729301C>G ENST00000308807.7 - 2 818 c.355G>C c.(355-357)Gag>Cag p.E119Q MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q NM_152649.2 NP_689862.1 mixed lineage kinase domain-like 19 ATGCGTTGCTCAACCTGAAGT 0.517000 0 SO:0001583 missense ENST00000308807.7 1 1 hg19 CCDS32487.1 . . . . . . . . . . C 10.71 1.426535 0.25726 . . ENSG00000168404 ENST00000308807;ENST00000306247 T;T 0.80214 -1.35;2.34 4.28 -8.57 0.00900 . 0.814893 0.10962 N 0.614861 T 0.57198 0.2037 N 0.24115 0.695 0.09310 N 1 P;P 0.42078 0.77;0.702 B;B 0.38712 0.28;0.217 T 0.54794 -0.8240 10 0.33940 T 0.23 1.4392 4.0588 0.09829 0.4262:0.1834:0.3155:0.075 . 119;119 Q8NB16-2;Q8NB16 .;MLKL_HUMAN Q 119 ENSP00000308351:E119Q;ENSP00000303118:E119Q ENSP00000303118:E119Q E - 1 0 MLKL 73286802 0.004000 0.15560 0.000000 0.03702 0.000000 0.00434 -0.375000 0.07475 -1.935000 0.01049 -1.051000 0.02340 GAG TCGA-LB-A9Q5-01A-11D-A397-08 MLKL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436403.3 0 0 0 18 485 0 158 1 1.097012e-01 3 12 0 158 2 0 0 0 0 0 2 1 0.999982 18 482 0 158 2 0 0 0 0 0 2 -2.887884 1 1 0 0 1 1 2 3 2.004723 0 0.240000 2 0.241820 0.300000 0.180000 0.480000 0.300000 0.319064 0.300000 0 0.230000 0.380000 KRT24 192666 broad.mit.edu 37 17 38859689 38859689 + Missense_Mutation SNP C C A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:38859689C>A ENST00000264651.2 - 1 313 c.257G>T c.(256-258)gGa>gTa p.G86V NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 29 Breast(137;0.00526) CCCACCAAATCCTGTCCCAGA 0.582000 GBM(61;380 1051 14702 23642 31441) 0 SO:0001583 missense ENST00000264651.2 1 1 hg19 CCDS11372.1 . . . . . . . . . . C 14.66 2.600770 0.46423 . . ENSG00000167916 ENST00000264651 D 0.90385 -2.66 5.32 4.35 0.52113 . . . . . D 0.92322 0.7564 L 0.57536 1.79 0.53005 D 0.999968 D 0.69078 0.997 D 0.63597 0.916 D 0.89764 0.3949 9 0.13853 T 0.58 . 13.4064 0.60915 0.0:0.9241:0.0:0.0759 . 86 Q2M2I5 K1C24_HUMAN V 86 ENSP00000264651:G86V ENSP00000264651:G86V G - 2 0 KRT24 36113215 0.014000 0.17966 0.115000 0.21578 0.002000 0.02628 1.059000 0.30517 1.381000 0.46364 -0.258000 0.10820 GGA TCGA-LB-A9Q5-01A-11D-A397-08 KRT24-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257217.1 0 0 0 19 539 0 150 0 0 0 0 150 2 0 0 0 0 0 2 1 0.999981 15 500 0 139 2 0 0 0 0 0 2 -3.757956 1 1 0 0 1 1 2 3 2.071928 0 0.240000 2 0.255194 0.300000 0.180000 1.000000 0.290000 0.394584 0.300000 0 0.230000 0.440000 WFIKKN2 124857 broad.mit.edu 37 17 48917415 48917415 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:48917415C>T ENST00000311378.4 + 2 1294 c.766C>T c.(766-768)Cgg>Tgg p.R256W WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGTGGTCATGCGGCCCAACCA 0.602000 0 SO:0001583 missense ENST00000311378.4 0 1 hg19 CCDS11575.1 . . . . . . . . . . C 13.82 2.350274 0.41599 0.0 1.16E-4 ENSG00000173714 ENST00000426127;ENST00000311378 D;D 0.96041 -3.89;-3.89 5.44 -7.01 0.01594 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.296278 0.33772 N 0.004575 D 0.90542 0.7036 M 0.72479 2.2 0.41747 D 0.989648 B 0.21147 0.052 B 0.14578 0.011 T 0.69250 -0.5194 10 0.59425 D 0.04 . 3.756 0.08585 0.5443:0.1895:0.0762:0.19 . 256 Q8TEU8 WFKN2_HUMAN W 163;256 ENSP00000405889:R163W;ENSP00000311184:R256W ENSP00000311184:R256W R + 1 2 WFIKKN2 46272414 0.810000 0.29049 0.874000 0.34290 0.986000 0.74619 0.008000 0.13197 -1.163000 0.02793 -0.142000 0.14014 CGG TCGA-LB-A9Q5-01A-11D-A397-08 WFIKKN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368358.1 0 0 0 5 285 0 81 0 0 0 1 0 81 2 0 0 0 0 0 2 1 0.935771 5 281 0 81 2 0 0 0 0 0 2 -2.623366 1 1 121412 4 38 1 1 2 3 2.202187 1 0.240000 2 0.314821 0.180000 0.060000 1.000000 0.150000 0.247524 0.180000 0 0.110000 0.290000 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:7578212G>A ENST00000269305.4 - 6 826 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213* 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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) ACACTATGTCGAAAAGTGTTT 0.532000 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 333 Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1) GRCh37 CM951226 TP53 M SO:0001587 stop_gained Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 . . . . . . . . . . G 37 6.039727 0.97226 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 . . . 5.28 3.25 0.37280 . 0.057335 0.64402 D 0.000003 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -7.5444 12.7263 0.57173 0.0:0.0:0.701:0.299 . . . . X 213;213;213;213;213;213;202;120;81;120;81 . ENSP00000269305:R213X R - 1 2 TP53 7518937 0.971000 0.33674 0.123000 0.21794 0.957000 0.61999 1.659000 0.37387 0.702000 0.31825 0.563000 0.77884 CGA TCGA-LB-A9Q5-01A-11D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 10 171 0 42 0 3.583846e-01 0 21 0 42 2 1 1 49 1360 0 1732 2 1 0.997049 10 170 0 42 2 0 0 0 0 0 2 -4.874490 1 1 121412 1 30 1 0 0 0 1.952837 0 0.240000 2 0.219392 0.450000 0.230000 0.760000 0.440000 0.478078 0.450000 0 0.330000 0.610000 FASN 2194 broad.mit.edu 37 17 80046303 80046303 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:80046303G>A ENST00000306749.2 - 16 2774 c.2556C>T c.(2554-2556)aaC>aaT p.N852N NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083) AACCTGAACCGTTGGGGAAGT 0.667000 Colon(59;314 1043 11189 28578 32273) 0 SO:0001819 synonymous_variant ENST00000306749.2 1 1 hg19 CCDS11801.1 TCGA-LB-A9Q5-01A-11D-A397-08 FASN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442369.1 1 0 0 5 144 0 31 0 1.111136e-01 0 14 0 31 2 0 0 0 0 0 2 1 0.935245 4 142 0 28 2 0 0 0 0 0 2 -7.377589 1 1 120858 4 36 1 0 0 0 1.943218 0 0.240000 2 0.215524 0.290000 0.110000 0.570000 0.260000 0.313007 0.290000 0 0.180000 0.430000 THOC1 9984 broad.mit.edu 37 18 264052 264052 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr18:264052G>A ENST00000261600.6 - 4 237 c.230C>T c.(229-231)tCt>tTt p.S77F THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) AATAGCAAGAGAAATAATAGC 0.343000 0 SO:0001583 missense ENST00000261600.6 0 1 hg19 CCDS45820.1 . . . . . . . . . . G 11.55 1.671815 0.29693 . . ENSG00000079134 ENST00000261600 . . . 6.17 6.17 0.99709 . 0.057850 0.64402 D 0.000001 T 0.65281 0.2676 L 0.58810 1.83 0.50313 D 0.999862 B;P 0.34864 0.418;0.473 B;B 0.36666 0.147;0.23 T 0.65894 -0.6057 9 0.87932 D 0 -13.7479 20.4898 0.99202 0.0:0.0:1.0:0.0 . 77;77 Q96FV9-2;Q96FV9 .;THOC1_HUMAN F 77 . ENSP00000261600:S77F S - 2 0 THOC1 254052 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.323000 0.65858 2.941000 0.99782 0.655000 0.94253 TCT TCGA-LB-A9Q5-01A-11D-A397-08 THOC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440348.5 0 0 0 4 101 0 19 1 1.132422e-01 4 8 0 19 2 0 0 0 0 0 2 1 0.891773 4 101 0 19 2 0 0 0 0 0 2 -7.288534 1 1 120796 1 21 1 0 0 0 1.985920 0 0.240000 2 0.232633 0.340000 0.110000 0.710000 0.310000 0.373508 0.340000 0 0.210000 0.520000 SMAD4 4089 broad.mit.edu 37 18 48593400 48593400 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr18:48593400G>A ENST00000342988.3 + 10 1689 c.1151G>A c.(1150-1152)gGc>gAc p.G384D SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D|SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) TTGCACATAGGCAAAGGTGTG 0.348000 38 Whole gene deletion(36)|Unknown(2) SO:0001583 missense ENST00000342988.3 1 1 hg19 CCDS11950.1 . . . . . . . . . . G 29.0 4.969730 0.92855 . . ENSG00000141646 ENST00000342988;ENST00000544926;ENST00000398417 D;D 0.98849 -5.18;-5.18 5.5 5.5 0.81552 SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3); 0.046327 0.85682 D 0.000000 D 0.99384 0.9783 M 0.93150 3.385 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98789 1.0735 10 0.87932 D 0 . 18.1843 0.89788 0.0:0.0:1.0:0.0 . 384 Q13485 SMAD4_HUMAN D 384 ENSP00000341551:G384D;ENSP00000381452:G384D ENSP00000341551:G384D G + 2 0 SMAD4 46847398 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.759000 0.98931 2.581000 0.87130 0.563000 0.77884 GGC TCGA-LB-A9Q5-01A-11D-A397-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 0 23 355 0 129 1 4.688237e-01 2 23 0 129 2 1 9.999999e-01 22 654 1 824 5 1 0.999999 22 353 0 127 2 0 0 0 0 0 2 -6.249517 1 1 0 0 1 0 0 0 1.985920 0 0.240000 2 0.232633 0.500000 0.320000 0.720000 0.500000 0.516725 0.500000 0 0.400000 0.610000 ABCA7 10347 broad.mit.edu 37 19 1046233 1046233 + Missense_Mutation SNP T T G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:1046233T>G ENST00000263094.6 + 13 1681 c.1450T>G c.(1450-1452)Tgg>Ggg p.W484G ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000533574.1_3'UTR NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) TCGCAGGTTTTGGGACCCTGG 0.642000 0 SO:0001583 missense ENST00000263094.6 0 1 hg19 CCDS12055.1 . . . . . . . . . . t 17.54 3.414745 0.62511 . . ENSG00000064687 ENST00000263094;ENST00000433129 D;D 0.94828 -3.53;-3.53 4.95 4.95 0.65309 . . . . . D 0.96787 0.8951 M 0.79123 2.44 0.46356 D 0.999 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.996 D 0.97146 0.9828 9 0.72032 D 0.01 . 12.5427 0.56182 0.0:0.0:0.0:1.0 . 346;484 Q8IZY2-2;Q8IZY2 .;ABCA7_HUMAN G 484 ENSP00000263094:W484G;ENSP00000414062:W484G ENSP00000263094:W484G W + 1 0 ABCA7 997233 1.000000 0.71417 1.000000 0.80357 0.457000 0.32468 7.869000 0.87170 1.858000 0.53909 0.454000 0.30748 TGG TCGA-LB-A9Q5-01A-11D-A397-08 ABCA7-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000394993.1 0 0 0 5 708 0 198 0 8.022725e-04 0 5 0 198 2 0 0 0 0 0 2 1 0.935145 5 697 0 197 2 0 0 0 0 0 2 -2.623801 1 1 0 0 1 1 2 3 2.006579 0 0.240000 2 0.243631 0.060000 0.010000 1.000000 0.060000 0.096715 0.060000 0 0.030000 0.100000 CPAMD8 27151 broad.mit.edu 37 19 17038840 17038840 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:17038840G>A ENST00000443236.1 - 25 3521 c.3490C>T c.(3490-3492)Cga>Tga p.R1164* NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 82 GCGGTGGCTCGCTCAGACCCA 0.617000 0 SO:0001587 stop_gained ENST00000443236.1 0 1 hg19 CCDS42519.1 . . . . . . . . . . G 38 6.940580 0.97952 . . ENSG00000160111 ENST00000291440 . . . 3.02 1.9 0.25705 . 0.311950 0.27861 U 0.017554 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 7.8107 0.29230 0.0:0.0:0.3646:0.6354 . . . . X 1164 . ENSP00000291440:R1164X R - 1 2 CPAMD8 16899840 1.000000 0.71417 0.658000 0.29665 0.098000 0.18820 5.239000 0.65371 1.237000 0.43756 0.655000 0.94253 CGA TCGA-LB-A9Q5-01A-11D-A397-08 CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257531.2 0 0 0 8 292 0 108 0 0 0 1 0 108 2 0 0 0 0 0 2 1 0.989480 8 291 0 103 2 0 0 0 0 0 2 -3.031449 1 1 120932 2 34 1 1 2 3 2.006579 0 0.240000 2 0.243631 0.230000 0.100000 1.000000 0.220000 0.268638 0.230000 0 0.160000 0.340000 TICAM1 148022 broad.mit.edu 37 19 4816396 4816396 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:4816396G>A ENST00000248244.5 - 2 2223 c.1994C>T c.(1993-1995)aCg>aTg p.T665M NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 26 GGGTGAGGCCGTAGGGAAGGC 0.662000 0 SO:0001583 missense ENST00000248244.5 0 1 hg19 CCDS12136.1 . . . . . . . . . . G 13.56 2.273697 0.40194 . . ENSG00000127666 ENST00000248244 T 0.44881 0.91 4.68 -0.218 0.13142 . . . . . T 0.22742 0.0549 N 0.14661 0.345 0.09310 N 1 B 0.21071 0.051 B 0.18561 0.022 T 0.20907 -1.0261 9 0.66056 D 0.02 -3.7983 5.0671 0.14587 0.1798:0.0:0.4884:0.3319 . 665 Q8IUC6 TCAM1_HUMAN M 665 ENSP00000248244:T665M ENSP00000248244:T665M T - 2 0 TICAM1 4767396 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.115000 0.03289 0.056000 0.16144 -0.258000 0.10820 ACG TCGA-LB-A9Q5-01A-11D-A397-08 TICAM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450435.1 0 0 0 5 206 1 56 0 3.371319e-02 0 71 1 56 6 0 0 0 0 0 2 0 0.026160 6 202 1 55 14 0 0 0 0 0 2 -3.554586 1 1 121306 1 35 1 1 2 3 2.006579 0 0.240000 2 0.243631 0.210000 0.080000 1.000000 0.200000 0.254509 0.210000 0 0.130000 0.340000 NLRP8 126205 broad.mit.edu 37 19 56466067 56466067 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:56466067G>A ENST00000291971.3 + 3 714 c.643G>A c.(643-645)Gga>Aga p.G215R NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 35 Colorectal(82;0.000147)|Ovarian(87;0.17) TCCTGGGATCGGAAAAACAAT 0.527000 0 SO:0001583 missense ENST00000291971.3 1 1 hg19 CCDS12937.1 . . . . . . . . . . G 13.57 2.275207 0.40194 0.0 1.16E-4 ENSG00000179709 ENST00000291971 D 0.90133 -2.62 2.04 0.899 0.19271 NACHT nucleoside triphosphatase (1); . . . . D 0.94450 0.8214 M 0.87971 2.92 0.19775 N 0.999955 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.85201 0.1015 9 0.87932 D 0 . 5.4852 0.16745 0.0:0.0:0.6708:0.3292 . 215;215 Q86W28-2;Q86W28 .;NALP8_HUMAN R 215 ENSP00000291971:G215R ENSP00000291971:G215R G + 1 0 NLRP8 61157879 1.000000 0.71417 0.002000 0.10522 0.061000 0.15899 4.154000 0.58125 0.368000 0.24481 0.514000 0.50259 GGA TCGA-LB-A9Q5-01A-11D-A397-08 NLRP8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457462.1 0 0 0 11 294 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.998414 11 294 0 74 2 0 0 0 0 0 2 -2.778457 1 1 121412 2 34 1 1 2 3 2.012356 0 0.240000 2 0.244533 0.310000 0.160000 1.000000 0.300000 0.350037 0.310000 0 0.230000 0.430000 ZNF584 201514 broad.mit.edu 37 19 58928643 58928643 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:58928643G>A ENST00000306910.4 + 4 1281 c.758G>A c.(757-759)cGc>cAc p.R253H ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000599238.1_3'UTR NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) ACCTTCAACCGCAAAGACGCA 0.463000 0 SO:0001583 missense ENST00000306910.4 0 1 hg19 CCDS12979.1 . . . . . . . . . . G 10.77 1.442947 0.25987 . . ENSG00000171574 ENST00000306910;ENST00000354635 T 0.36340 1.26 3.78 1.63 0.23807 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.26991 0.0661 L 0.50333 1.59 0.09310 N 1 B 0.25955 0.138 B 0.22880 0.042 T 0.27157 -1.0082 9 0.13108 T 0.6 . 7.1665 0.25693 0.227:0.0:0.773:0.0 . 253 Q8IVC4 ZN584_HUMAN H 253;112 ENSP00000306756:R253H ENSP00000306756:R253H R + 2 0 ZNF584 63620455 0.000000 0.05858 1.000000 0.80357 0.863000 0.49368 -1.284000 0.02793 0.389000 0.25086 0.555000 0.69702 CGC TCGA-LB-A9Q5-01A-11D-A397-08 ZNF584-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467022.1 0 0 0 5 277 1 90 0 2.013852e-02 0 10 1 90 2 0 0 0 0 0 2 0 0.066749 5 276 1 90 12 0 0 0 0 0 2 -2.986411 1 1 0 0 1 1 2 3 2.012356 0 0.240000 2 0.244533 0.160000 0.050000 1.000000 0.150000 0.206501 0.160000 0 0.100000 0.260000 CELSR2 1952 broad.mit.edu 37 1 109808777 109808777 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:109808777C>T ENST00000271332.3 + 15 6023 c.5962C>T c.(5962-5964)Cgt>Tgt p.R1988C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) CTGGTGGCCCCGTACCCGCTT 0.617000 NSCLC(158;1285 2011 34800 34852 42084) 0 SO:0001583 missense ENST00000271332.3 1 1 hg19 CCDS796.1 . . . . . . . . . . C 21.7 4.182257 0.78677 2.27E-4 0.0 ENSG00000143126 ENST00000271332 T 0.70631 -0.5 4.6 4.6 0.57074 GPCR, family 2, extracellular hormone receptor domain (2); . . . . D 0.82309 0.5009 M 0.83384 2.64 0.58432 D 0.999999 D 0.89917 1.0 D 0.67382 0.951 D 0.85520 0.1203 9 0.87932 D 0 . 17.6074 0.88042 0.0:1.0:0.0:0.0 . 1988 Q9HCU4 CELR2_HUMAN C 1988 ENSP00000271332:R1988C ENSP00000271332:R1988C R + 1 0 CELSR2 109610300 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.958000 0.70330 2.387000 0.81309 0.462000 0.41574 CGT TCGA-LB-A9Q5-01A-11D-A397-08 CELSR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033200.1 1 0 0 15 327 0 86 0 1.281700e-02 0 4 0 86 2 0 0 0 0 0 2 1 0.999875 15 325 0 84 2 0 0 0 0 0 2 -2.619703 1 1 121412 6 38 1 1 2 3 2.007491 0 0.240000 2 0.243631 0.370000 0.210000 1.000000 0.370000 0.403608 0.370000 0 0.280000 0.490000 RHOC 389 broad.mit.edu 37 1 113244218 113244218 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:113244218G>A ENST00000285735.2 - 6 1735 c.526C>T c.(526-528)Cgg>Tgg p.R176W RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W P08134 RHOC_HUMAN ras homolog family member C 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) AGGCCAGCCCGAGTGGCCATC 0.617000 0 SO:0001583 missense ENST00000285735.2 1 1 hg19 CCDS854.1 . . . . . . . . . . G 20.1 3.936495 0.73442 . . ENSG00000155366 ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369632;ENST00000484054;ENST00000425265 T;T;T;T;T;T;T;T;T 0.72394 -0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65 5.13 0.702 0.18110 . . . . . T 0.76673 0.4020 M 0.76170 2.325 0.80722 D 1 D 0.89917 1.0 D 0.72982 0.979 T 0.80313 -0.1435 9 0.87932 D 0 -1.3188 14.0156 0.64523 0.0:0.0:0.4807:0.5193 . 176 P08134 RHOC_HUMAN W 176;176;176;176;176;176;176;213;176 ENSP00000345236:R176W;ENSP00000358647:R176W;ENSP00000358656:R176W;ENSP00000285735:R176W;ENSP00000358652:R176W;ENSP00000358651:R176W;ENSP00000358646:R176W;ENSP00000434877:R213W;ENSP00000390823:R176W ENSP00000285735:R176W R - 1 2 RHOC 113045741 0.990000 0.36364 0.990000 0.47175 0.998000 0.95712 2.208000 0.42797 0.157000 0.19338 0.563000 0.77884 CGG TCGA-LB-A9Q5-01A-11D-A397-08 RHOC-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000032904.2 1 0 1 22 398 0 98 1 1 257 641 0 98 2 0 0 0 0 0 2 1 0.999999 22 396 0 97 2 0 0 0 0 0 2 -2.921064 1 1 0 0 1 1 2 3 2.007491 0 0.240000 2 0.243631 0.440000 0.280000 1.000000 0.440000 0.468746 0.440000 0 0.350000 0.560000 POLR3C 10623 broad.mit.edu 37 1 145608249 145608249 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:145608249G>A ENST00000334163.3 - 4 608 c.448C>T c.(448-450)Cga>Tga p.R150* RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150* NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TCTGCCAGTCGCACAAATGTG 0.498000 0 SO:0001587 stop_gained ENST00000334163.3 0 1 hg19 CCDS921.1 . . . . . . . . . . G 19.75 3.884789 0.72410 0.0 1.16E-4 ENSG00000186141 ENST00000334163;ENST00000369294 . . . 5.62 4.69 0.59074 . 0.193584 0.43919 D 0.000517 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -4.7899 13.4388 0.61101 0.0:0.0:0.8418:0.1582 . . . . X 150 . ENSP00000334564:R150X R - 1 2 POLR3C 144319606 1.000000 0.71417 1.000000 0.80357 0.038000 0.13279 3.850000 0.55918 1.325000 0.45301 0.655000 0.94253 CGA TCGA-LB-A9Q5-01A-11D-A397-08 POLR3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000038542.1 0 0 0 5 296 0 89 0 9.301031e-02 0 25 0 89 2 0 0 0 0 0 2 1 0.937504 5 295 0 88 2 0 0 0 0 0 2 -2.594287 1 1 121412 6 39 1 1 2 3 2.083156 0 0.240000 2 0.256942 0.160000 0.050000 1.000000 0.140000 0.288292 0.160000 0 0.100000 0.340000 FLG 2312 broad.mit.edu 37 1 152282617 152282617 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:152282617G>A ENST00000368799.1 - 3 4780 c.4745C>T c.(4744-4746)gCg>gTg p.A1582V 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) CTTGGACCCCGCTGATTCTCC 0.607000 Ichthyosis 0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris ENST00000368799.1 0 1 hg19 CCDS30860.1 . . . . . . . . . . G 9.786 1.176695 0.21704 . . ENSG00000143631 ENST00000368799 T 0.01705 4.68 2.74 -4.7 0.03288 . . . . . T 0.00412 0.0013 L 0.36672 1.1 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.46938 -0.9155 9 0.28530 T 0.3 . 0.7528 0.00993 0.3328:0.1614:0.3415:0.1644 . 1582 P20930 FILA_HUMAN V 1582 ENSP00000357789:A1582V ENSP00000357789:A1582V A - 2 0 FLG 150549241 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -5.013000 0.00160 -1.202000 0.02655 -3.061000 0.00068 GCG TCGA-LB-A9Q5-01A-11D-A397-08 FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 0 0 0 6 895 0 240 0 0 0 0 240 2 0 0 0 0 0 2 1 0.963793 6 885 0 237 2 0 0 0 0 0 2 -1.781269 0 1 0 0 1 1 2 3 2.083156 0 0.240000 2 0.256942 0.060000 0.010000 1.000000 0.060000 0.201741 0.060000 0 0.030000 0.130000 OR10K1 391109 broad.mit.edu 37 1 158435396 158435396 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:158435396C>T ENST00000289451.2 + 1 125 c.45C>T c.(43-45)ctC>ctT p.L15L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 27 all_hematologic(112;0.0378) TCGTCGTCCTCGGCTTCTCAT 0.507000 0 SO:0001819 synonymous_variant ENST00000289451.2 1 1 hg19 CCDS30897.1 TCGA-LB-A9Q5-01A-11D-A397-08 OR10K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046367.1 0 0 0 12 232 0 81 0 0 0 0 81 2 0 0 0 0 0 2 1 0.999142 12 230 0 81 2 0 0 0 0 0 2 -2.961561 1 1 121412 1 28 1 1 2 3 2.083156 0 0.240000 2 0.256942 0.450000 0.240000 1.000000 0.410000 0.525801 0.450000 0 0.330000 0.730000 ATP13A2 23400 broad.mit.edu 37 1 17313653 17313653 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:17313653G>A ENST00000326735.8 - 26 3004 c.2971C>T c.(2971-2973)Cgg>Tgg p.R991W RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R986W Q9NQ11 AT132_HUMAN ATPase type 13A2 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) CCCGGTGGCCGCACCCGTCCC 0.687000 0 SO:0001583 missense ENST00000326735.8 0 1 hg19 CCDS175.1 . . . . . . . . . . G 19.02 3.745542 0.69418 . . ENSG00000159363 ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418 D;D;D;D 0.89415 -2.51;-2.51;-2.51;-2.37 5.12 5.12 0.69794 . 0.000000 0.85682 D 0.000000 D 0.95510 0.8541 M 0.92219 3.285 0.45806 D 0.998684 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.995 D 0.96317 0.9233 10 0.87932 D 0 -37.805 14.0426 0.64687 0.0:0.0:1.0:0.0 . 947;986;991 Q5JXY1;Q6S9Z9;Q9NQ11 .;.;AT132_HUMAN W 991;947;986;187 ENSP00000327214:R991W;ENSP00000341115:R947W;ENSP00000413307:R986W;ENSP00000423065:R187W ENSP00000327214:R991W R - 1 2 ATP13A2 17186240 1.000000 0.71417 0.993000 0.49108 0.482000 0.33219 5.012000 0.64017 2.390000 0.81377 0.561000 0.74099 CGG TCGA-LB-A9Q5-01A-11D-A397-08 ATP13A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000006617.1 0 0 0 4 152 0 45 0 8.600144e-01 0 138 0 45 2 0 0 0 0 0 2 1 0.888342 4 150 0 44 2 0 0 0 0 0 2 -6.088020 1 1 121340 4 34 1 0 1 1 1.988550 0 0.240000 2 0.235412 0.230000 0.070000 0.490000 0.210000 0.256707 0.230000 0 0.140000 0.360000 PKP1 5317 broad.mit.edu 37 1 201252975 201252975 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:201252975G>A ENST00000352845.3 + 1 145 c.145G>A c.(145-147)Gtc>Atc p.V49I PKP1_ENST00000263946.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I Q13835 PKP1_HUMAN plakophilin 1 22 GATGATGACCGTCAAGCGGCA 0.612000 0 SO:0001583 missense ENST00000352845.3 1 1 hg19 CCDS30966.1 . . . . . . . . . . G 22.3 4.274211 0.80580 . . ENSG00000081277 ENST00000367324;ENST00000263946;ENST00000352845 T;T;T 0.37915 1.17;1.17;1.17 4.93 4.93 0.64822 . 0.260506 0.26153 N 0.026030 T 0.43853 0.1266 N 0.17082 0.46 0.41428 D 0.987843 D;D 0.71674 0.998;0.961 D;B 0.71184 0.972;0.245 T 0.45687 -0.9244 10 0.45353 T 0.12 -19.2651 16.3155 0.82918 0.0:0.0:1.0:0.0 . 49;49 Q13835-2;Q13835 .;PKP1_HUMAN I 49 ENSP00000356293:V49I;ENSP00000263946:V49I;ENSP00000295597:V49I ENSP00000263946:V49I V + 1 0 PKP1 199519598 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 4.458000 0.60095 2.278000 0.76064 0.655000 0.94253 GTC TCGA-LB-A9Q5-01A-11D-A397-08 PKP1-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000086897.1 0 0 0 8 211 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.989363 8 209 0 53 2 0 0 0 0 0 2 -3.175439 1 1 0 0 1 1 2 3 2.083156 0 0.240000 2 0.256942 0.350000 0.150000 1.000000 0.310000 0.438161 0.350000 0 0.230000 0.620000 OR2M5 127059 broad.mit.edu 37 1 248309257 248309257 + Nonsense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:248309257C>T ENST00000366476.1 + 1 808 c.808C>T c.(808-810)Cag>Tag p.Q270* NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTCCCCTATGCAGGACAAGCT 0.512000 0 SO:0001587 stop_gained ENST00000366476.1 0 1 hg19 CCDS31105.1 . . . . . . . . . . c 10.73 1.432018 0.25813 . . ENSG00000162727 ENST00000366476 . . . 3.15 -2.55 0.06288 . . . . . . . . . . . 0.48135 D 0.999598 . . . . . . . . . . 0.16420 T 0.52 . 2.4525 0.04522 0.2978:0.3147:0.2927:0.0948 . . . . X 270 . ENSP00000355432:Q270X Q + 1 0 OR2M5 246375880 0.000000 0.05858 0.010000 0.14722 0.020000 0.10135 -1.939000 0.01545 -0.351000 0.08249 -0.565000 0.04167 CAG TCGA-LB-A9Q5-01A-11D-A397-08 OR2M5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097343.1 0 0 0 21 879 0 225 0 0 0 0 225 2 0 0 0 0 0 2 1 0.999997 21 870 0 223 2 0 0 0 0 0 2 -2.587653 1 1 0 0 1 1 2 3 2.078234 0 0.240000 2 0.256069 0.200000 0.120000 1.000000 0.200000 0.317264 0.200000 0 0.160000 0.300000 PHACTR3 116154 broad.mit.edu 37 20 58318299 58318299 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:58318299G>A ENST00000371015.1 + 2 723 c.256G>A c.(256-258)Gaa>Aaa p.E86K PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K NM_001281507.1|NM_080672.3 NP_001268436.1|NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAAGAAAAACGAAAAACTGAA 0.577000 0 SO:0001583 missense ENST00000371015.1 1 1 hg19 CCDS13480.1 . . . . . . . . . . G 32 5.154383 0.94686 . . ENSG00000087495 ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300 T;T;T;T;T;T;T 0.46063 1.21;1.15;0.88;1.24;1.24;1.24;0.88 4.26 4.26 0.50523 . 0.000000 0.85682 D 0.000000 T 0.63010 0.2475 M 0.71036 2.16 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.76575 0.988;0.986;0.986 T 0.66670 -0.5865 10 0.51188 T 0.08 -17.4511 15.6464 0.77055 0.0:0.0:1.0:0.0 . 45;86;83 Q96KR7-3;Q96KR7;B1AKX0 .;PHAR3_HUMAN;. K 83;86;45;45;45;45;45 ENSP00000353002:E83K;ENSP00000360054:E86K;ENSP00000379001:E45K;ENSP00000442483:E45K;ENSP00000347866:E45K;ENSP00000378998:E45K;ENSP00000354555:E45K ENSP00000347866:E45K E + 1 0 PHACTR3 57751694 1.000000 0.71417 0.934000 0.37439 0.898000 0.52572 9.593000 0.98250 1.910000 0.55303 0.462000 0.41574 GAA TCGA-LB-A9Q5-01A-11D-A397-08 PHACTR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079923.3 0 0 0 9 225 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 0.994372 9 224 0 61 2 0 0 0 0 0 2 -10.485810 1 1 0 0 1 1 2 3 2.002407 0 0.240000 2 0.241820 0.330000 0.160000 0.620000 0.310000 0.355606 0.330000 0 0.230000 0.460000 MICAL3 57553 broad.mit.edu 37 22 18301393 18301393 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr22:18301393C>T ENST00000441493.2 - 26 4386 c.4034G>A c.(4033-4035)cGc>cAc p.R1345H MICAL3_ENST00000580469.1_5'Flank NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 4 all_epithelial(15;0.198) CCCCTTGCTGCGGTCCACAGG 0.632000 0 SO:0001583 missense ENST00000441493.2 0 1 hg19 CCDS46659.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.14|18.14 3.557135|3.557135 0.65425|0.65425 .|. .|. ENSG00000093100|ENSG00000093100 ENST00000252134|ENST00000441493 .|T .|0.78003 .|-1.14 4.74|4.74 4.74|4.74 0.60224|0.60224 .|. .|. .|. .|. .|. D|D 0.86418|0.86418 0.5928|0.5928 M|M 0.63843|0.63843 1.955|1.955 0.80722|0.80722 D|D 1|1 .|D .|0.89917 .|1.0 .|D .|0.83275 .|0.996 D|D 0.86441|0.86441 0.1767|0.1767 5|9 .|0.44086 .|T .|0.13 .|. 17.7462|17.7462 0.88421|0.88421 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|1345 .|Q7RTP6 .|MICA3_HUMAN T|H 327|1345 .|ENSP00000416015:R1345H .|ENSP00000416015:R1345H A|R -|- 1|2 0|0 XXbac-B461K10.4|XXbac-B461K10.4 16681393|16681393 1.000000|1.000000 0.71417|0.71417 0.157000|0.157000 0.22605|0.22605 0.229000|0.229000 0.25112|0.25112 7.482000|7.482000 0.81143|0.81143 2.188000|2.188000 0.69820|0.69820 0.462000|0.462000 0.41574|0.41574 GCA|CGC TCGA-LB-A9Q5-01A-11D-A397-08 MICAL3-010 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000447351.1 0 0 0 5 520 0 140 0 1.047194e-02 0 13 0 140 2 0 0 0 0 0 2 1 0.935918 5 514 0 140 2 0 0 0 0 0 2 -2.532073 1 1 120944 5 42 1 1 2 3 2.001304 0 0.240000 2 0.241820 0.080000 0.020000 0.200000 0.080000 0.103407 0.080000 0 0.050000 0.130000 UGGT1 56886 broad.mit.edu 37 2 128941276 128941276 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:128941276G>A ENST00000259253.6 + 38 4319 c.4272G>A c.(4270-4272)aaG>aaA p.K1424K UGGT1_ENST00000375990.3_Silent_p.K1400K NM_020120.3 NP_064505.1 Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 63 ATCTGAAGAAGTTTAGGAAAA 0.423000 0 SO:0001819 synonymous_variant ENST00000259253.6 0 1 hg19 CCDS2154.1 TCGA-LB-A9Q5-01A-11D-A397-08 UGGT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254435.2 0 0 0 5 176 0 43 0 2.587388e-01 0 30 0 43 2 0 0 0 0 0 2 1 0.935651 5 173 0 43 2 0 0 0 0 0 2 -7.303947 1 1 0 0 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.250000 0.090000 0.550000 0.220000 0.276320 0.250000 0 0.150000 0.380000 CCDC74A 90557 broad.mit.edu 37 2 132290319 132290319 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:132290319G>A ENST00000295171.6 + 5 979 c.841G>A c.(841-843)Gag>Aag p.E281K CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 19 GCTCATCCGCGAGCTGTGGAA 0.677000 0 SO:0001583 missense ENST00000295171.6 0 1 hg19 CCDS2167.1 . . . . . . . . . . . 10.85 1.466572 0.26335 . . ENSG00000163040 ENST00000295171;ENST00000409856 T;T 0.30448 1.53;1.53 2.66 1.74 0.24563 . 0.228610 0.22012 U 0.065844 T 0.13329 0.0323 N 0.08118 0 0.80722 D 1 B;B 0.31611 0.221;0.331 B;B 0.25614 0.026;0.062 T 0.09037 -1.0693 10 0.66056 D 0.02 . 7.4179 0.27055 0.0:0.7175:0.2825:0.0 . 215;281 Q96AQ1-2;Q96AQ1 .;CC74A_HUMAN K 281;215 ENSP00000295171:E281K;ENSP00000387009:E215K ENSP00000295171:E281K E + 1 0 CCDC74A 132006789 0.981000 0.34729 0.988000 0.46212 0.372000 0.29890 2.366000 0.44204 0.211000 0.20683 0.194000 0.17425 GAG TCGA-LB-A9Q5-01A-11D-A397-08 CCDC74A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254570.2 0 0 0 10 344 0 92 0 6.199715e-02 1 12 0 92 2 0 0 0 0 0 2 1 0.976629 4 220 0 120 2 0 0 0 0 0 2 -10.193920 1 0 121384 5 35 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.240000 0.120000 0.450000 0.240000 0.263118 0.240000 0 0.170000 0.330000 SCN1A 6323 broad.mit.edu 37 2 166930064 166930064 + Missense_Mutation SNP G G A rs139397227 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:166930064G>A ENST00000303395.4 - 1 67 c.68C>T c.(67-69)gCg>gTg p.A23V AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000423058.2_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) TTCAATAGCCGCAAGAGATTC 0.423000 0 SO:0001583 missense ENST00000303395.4 0 1 hg19 CCDS54413.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 17.91 3.503542 0.64298 0.001589 0.0 ENSG00000144285 ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050 D;D;D;D 0.96802 -4.13;-4.13;-4.1;-4.08 5.77 5.77 0.91146 . 0.093676 0.46442 D 0.000293 D 0.95214 0.8448 L 0.53780 1.695 0.44570 D 0.997536 P 0.51057 0.941 P 0.46585 0.521 D 0.93992 0.7268 10 0.38643 T 0.18 . 14.2196 0.65818 0.0:0.0:0.8509:0.1491 . 23 P35498-2 . V 23 ENSP00000407030:A23V;ENSP00000303540:A23V;ENSP00000364554:A23V;ENSP00000386312:A23V ENSP00000303540:A23V A - 2 0 SCN1A 166638310 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.216000 0.42871 2.885000 0.99019 0.655000 0.94253 GCG TCGA-LB-A9Q5-01A-11D-A397-08 SCN1A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102661.1 0 0 0 6 695 1 190 0 0 0 1 190 2 0 0 0 0 0 2 0 0.053841 9 686 1 190 14 0 0 0 0 0 2 -1.846177 0 1 121412 46 52 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.070000 0.020000 0.170000 0.070000 0.091800 0.070000 0 0.040000 0.120000 TTN 7273 broad.mit.edu 37 2 179398331 179398331 + Missense_Mutation SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:179398331G>T ENST00000591111.1 - 308 98312 c.98088C>A c.(98086-98088)aaC>aaA p.N32696K TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N34337K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACCATATTTGTTCCTTGCCA 0.413000 0 SO:0001583 missense ENST00000591111.1 1 1 hg19 . . . . . . . . . . G 21.8 4.196169 0.78902 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.74632 -0.86;-0.86;-0.86;-0.86 5.74 5.74 0.90152 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.91888 0.7432 H 0.99074 4.42 0.50813 D 0.999894 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.998;0.998;0.998;0.998 D 0.94384 0.7607 9 0.87932 D 0 . 13.58 0.61896 0.0803:0.0:0.9197:0.0 . 25272;25397;25464;32696 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN K 31769;25272;25464;25397;25269 ENSP00000343764:N31769K;ENSP00000434586:N25272K;ENSP00000340554:N25464K;ENSP00000352154:N25397K ENSP00000340554:N25464K N - 3 2 TTN 179106577 1.000000 0.71417 1.000000 0.80357 0.815000 0.46073 4.905000 0.63286 2.712000 0.92718 0.561000 0.74099 AAC TCGA-LB-A9Q5-01A-11D-A397-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 8 245 0 76 0 0 0 1 0 76 2 0 0 0 0 0 2 1 0.989521 8 244 0 76 2 0 0 0 0 0 2 -9.400417 1 1 0 0 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.270000 0.120000 0.530000 0.260000 0.298127 0.270000 0 0.190000 0.390000 GDF7 151449 broad.mit.edu 37 2 20870689 20870689 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:20870689C>T ENST00000272224.3 + 2 1433 c.857C>T c.(856-858)gCc>gTc p.A286V NM_182828.2 NP_878248.2 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGATCCGCGCCCAGGCCCGC 0.736000 0 SO:0001583 missense ENST00000272224.3 0 1 hg19 CCDS1701.1 . . . . . . . . . . C 15.87 2.960656 0.53400 . . ENSG00000143869 ENST00000272224 T 0.79653 -1.29 3.37 3.37 0.38596 . 0.735154 0.10906 U 0.621094 T 0.66819 0.2828 N 0.19112 0.55 0.33733 D 0.618491 P 0.44627 0.839 B 0.38562 0.276 T 0.73209 -0.4055 10 0.59425 D 0.04 . 9.0478 0.36358 0.4019:0.5981:0.0:0.0 . 286 Q7Z4P5 GDF7_HUMAN V 286 ENSP00000272224:A286V ENSP00000272224:A286V A + 2 0 GDF7 20734170 1.000000 0.71417 0.987000 0.45799 0.306000 0.27790 4.331000 0.59273 1.890000 0.54733 0.462000 0.41574 GCC TCGA-LB-A9Q5-01A-11D-A397-08 GDF7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207563.2 0 0 0 4 42 0 13 0 0 0 0 13 2 0 0 0 0 0 2 1 0.888139 4 41 0 13 2 0 0 0 0 0 2 -9.388750 1 1 0 0 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.770000 0.270000 1.000000 1.000000 0.747394 0.770000 0 0.470000 1.000000 ZNF513 130557 broad.mit.edu 37 2 27602967 27602967 + Missense_Mutation SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:27602967G>T ENST00000323703.6 - 2 402 c.204C>A c.(202-204)gaC>gaA p.D68E ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E|ZNF513_ENST00000491924.1_5'Flank NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTTCCGAGTCTCTCTCGA 0.557000 0 SO:0001583 missense ENST00000323703.6 1 1 hg19 CCDS1751.1 . . . . . . . . . . G 15.90 2.969320 0.53614 . . ENSG00000163795 ENST00000323703;ENST00000407879;ENST00000436006 T;T;T 0.66815 3.17;2.98;-0.23 4.29 4.29 0.51040 . 0.000000 0.49916 D 0.000123 T 0.48352 0.1495 N 0.19112 0.55 0.29729 N 0.838021 P 0.40476 0.718 B 0.42343 0.384 T 0.48514 -0.9029 10 0.02654 T 1 -12.4003 12.1265 0.53920 0.0:0.0:1.0:0.0 . 68 Q8N8E2 ZN513_HUMAN E 68;6;6 ENSP00000318373:D68E;ENSP00000384874:D6E;ENSP00000394226:D6E ENSP00000318373:D68E D - 3 2 ZNF513 27456471 1.000000 0.71417 1.000000 0.80357 0.945000 0.59286 2.816000 0.48026 2.233000 0.73108 0.555000 0.69702 GAC TCGA-LB-A9Q5-01A-11D-A397-08 ZNF513-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000215026.2 0 0 0 34 893 0 242 0 1.469589e-01 1 17 0 242 2 0 0 0 0 0 2 1 1.000000 32 884 0 238 2 0 0 0 0 0 2 -4.005628 1 1 0 0 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.300000 0.210000 0.440000 0.310000 0.320369 0.300000 0 0.250000 0.370000 CNNM4 26504 broad.mit.edu 37 2 97426885 97426885 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:97426885G>A ENST00000377075.2 + 1 247 c.149G>A c.(148-150)aGg>aAg p.R50K NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin and CBS domain divalent metal cation transport mediator 4 20 GTGGGCATGAGGCTGGCGAGC 0.701000 0 SO:0001583 missense ENST00000377075.2 1 1 hg19 CCDS2024.2 . . . . . . . . . . G 31 5.088319 0.94100 . . ENSG00000158158 ENST00000377075 D 0.84370 -1.84 3.72 3.72 0.42706 . 0.000000 0.64402 U 0.000006 D 0.87958 0.6309 M 0.71036 2.16 0.80722 D 1 D 0.67145 0.996 P 0.51615 0.675 D 0.89989 0.4106 10 0.72032 D 0.01 -18.3957 14.7617 0.69610 0.0:0.0:1.0:0.0 . 50 Q6P4Q7 CNNM4_HUMAN K 50 ENSP00000366275:R50K ENSP00000366275:R50K R + 2 0 CNNM4 96790612 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 6.077000 0.71275 2.069000 0.61940 0.462000 0.41574 AGG TCGA-LB-A9Q5-01A-11D-A397-08 CNNM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252954.1 0 0 0 7 153 0 46 0 1.506310e-02 0 4 0 46 2 0 0 0 0 0 2 1 0.978600 7 147 0 45 2 0 0 0 0 0 2 -9.845501 1 1 0 0 1 1 2 3 2.004620 0 0.240000 2 0.241820 0.380000 0.170000 0.760000 0.350000 0.410276 0.380000 0 0.260000 0.550000 PLXNA1 5361 broad.mit.edu 37 3 126732924 126732924 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:126732924G>A ENST00000393409.2 + 10 2375 c.2375G>A c.(2374-2376)gGc>gAc p.G792D PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 67 GTGTGGAACGGCAACTTTGTC 0.632000 0 SO:0001583 missense ENST00000393409.2 0 1 hg19 CCDS33847.2 . . . . . . . . . . G 23.1 4.380294 0.82682 . . ENSG00000114554 ENST00000393409;ENST00000251772 T;T 0.71222 -0.55;-0.55 2.87 2.87 0.33458 . 1.820450 0.02776 N 0.120250 D 0.84447 0.5474 M 0.85373 2.75 0.80722 D 1 P 0.45715 0.865 P 0.52710 0.707 T 0.76318 -0.3003 10 0.87932 D 0 . 14.5372 0.67969 0.0:0.0:1.0:0.0 . 792 Q9UIW2 PLXA1_HUMAN D 792;769 ENSP00000377061:G792D;ENSP00000251772:G769D ENSP00000251772:G769D G + 2 0 PLXNA1 128215614 1.000000 0.71417 1.000000 0.80357 0.836000 0.47400 5.506000 0.66993 1.912000 0.55364 0.491000 0.48974 GGC TCGA-LB-A9Q5-01A-11D-A397-08 PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356451.1 0 0 0 6 632 0 201 0 2.191286e-02 0 20 0 201 2 0 0 0 0 0 2 0 0.078843 6 627 1 199 13 0 0 0 0 0 2 -2.264807 0 1 0 0 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.080000 0.020000 0.180000 0.080000 0.099827 0.080000 0 0.050000 0.130000 RBP1 5947 broad.mit.edu 37 3 139257784 139257784 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:139257784G>A ENST00000483943.2 - 2 277 c.277C>T c.(277-279)Cgc>Tgc p.R93C RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 5 Acitretin(DB00459)|Vitamin A(DB00162) GCGATTTTGCGCAAGGCCACA 0.552000 0 SO:0001583 missense ENST00000483943.2 0 1 hg19 CCDS46925.1 . . . . . . . . . . G 20.3 3.975146 0.74360 . . ENSG00000114115 ENST00000232219;ENST00000483943;ENST00000492918 T;T;T 0.09630 2.96;2.96;2.96 5.15 3.16 0.36331 Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1); 0.135740 0.44483 D 0.000456 T 0.36936 0.0985 M 0.93720 3.45 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.996 T 0.22452 -1.0216 10 0.87932 D 0 . 5.8333 0.18593 0.1029:0.0:0.5208:0.3763 . 93;93;31 F2Z2F2;E7EWV0;P09455 .;.;RET1_HUMAN C 93 ENSP00000232219:R93C;ENSP00000424813:R93C;ENSP00000429166:R93C ENSP00000232219:R93C R - 1 0 RBP1 140740474 1.000000 0.71417 1.000000 0.80357 0.942000 0.58702 4.512000 0.60469 1.163000 0.42636 0.455000 0.32223 CGC TCGA-LB-A9Q5-01A-11D-A397-08 RBP1-003 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000341497.2 0 0 0 5 460 0 151 0 9.811812e-01 0 696 0 151 2 0 0 0 0 0 2 1 0.936789 5 457 0 150 2 0 0 0 0 0 2 -2.202903 0 1 0 0 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.090000 0.030000 0.220000 0.090000 0.115353 0.090000 0 0.050000 0.150000 SCN5A 6331 broad.mit.edu 37 3 38601865 38601865 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:38601865C>T ENST00000333535.4 - 23 4167 c.4018G>A c.(4018-4020)Gtc>Atc p.V1340I SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) ATGAGGCAGACGAGGAGGACG 0.577000 0 SO:0001583 missense ENST00000333535.4 1 1 hg19 CCDS46796.1 . . . . . . . . . . C 29.3 4.994698 0.93167 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.98493 -4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96 4.25 4.25 0.50352 Ion transport (1); 0.133960 0.49916 D 0.000126 D 0.98865 0.9616 M 0.80616 2.505 0.54753 D 0.999989 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;0.998 D;D;D;D;D;D;P 0.87578 0.977;0.995;0.984;0.991;0.996;0.998;0.859 D 0.99758 1.1020 10 0.87932 D 0 . 17.2234 0.86963 0.0:1.0:0.0:0.0 . 1286;1339;1340;1340;1340;1339;1340 E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;.;SCN5A_HUMAN;.;. I 1340;1339;1340;1286;1339;1340;1340;1339;1286;1286 ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I ENSP00000328968:V1340I V - 1 0 SCN5A 38576869 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.848000 0.69458 2.355000 0.79922 0.655000 0.94253 GTC TCGA-LB-A9Q5-01A-11D-A397-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 0 0 0 8 181 0 60 0 0 0 0 60 2 0 0 0 0 0 2 1 0.989145 8 178 0 59 2 0 0 0 0 0 2 -4.239150 1 1 121412 6 36 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.370000 0.170000 0.700000 0.350000 0.393113 0.370000 0 0.250000 0.520000 LRRN1 57633 broad.mit.edu 37 3 3888153 3888153 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:3888153G>A ENST00000319331.3 + 2 2589 c.1828G>A c.(1828-1830)Gta>Ata p.V610I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 26 AAAGTCATGCGTAAATGTCAC 0.458000 0 SO:0001583 missense ENST00000319331.3 0 1 hg19 CCDS33685.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 8.266 0.812185 0.16537 . . ENSG00000175928 ENST00000319331 T 0.45276 0.9 5.5 4.63 0.57726 Fibronectin, type III (2);Immunoglobulin-like fold (1); 0.056986 0.64402 D 0.000001 T 0.23451 0.0567 N 0.13168 0.305 0.45161 D 0.998179 B 0.23990 0.095 B 0.13407 0.009 T 0.06770 -1.0808 10 0.18276 T 0.48 . 10.8023 0.46495 0.145:0.0:0.855:0.0 . 610 Q6UXK5 LRRN1_HUMAN I 610 ENSP00000314901:V610I ENSP00000314901:V610I V + 1 0 LRRN1 3863153 1.000000 0.71417 0.372000 0.25991 0.961000 0.63080 7.558000 0.82253 1.461000 0.47929 -0.145000 0.13849 GTA TCGA-LB-A9Q5-01A-11D-A397-08 LRRN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337704.2 0 0 0 5 495 0 140 0 9.883287e-03 0 12 0 140 2 0 0 0 0 0 2 1 0.935831 5 489 0 140 2 0 0 0 0 0 2 -2.468413 0 1 121412 11 45 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.080000 0.020000 0.210000 0.080000 0.108040 0.080000 0 0.050000 0.140000 SLC26A6 65010 broad.mit.edu 37 3 48667366 48667366 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:48667366C>T ENST00000395550.2 - 13 1515 c.1468G>A c.(1468-1470)Gac>Aac p.D490N SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D469N Q9BXS9 S26A6_HUMAN solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) 19 AAGCCAAGGTCCAGGTTCAGC 0.607000 NSCLC(13;369 479 28271 30152 44026) 0 SO:0001583 missense ENST00000395550.2 1 1 hg19 CCDS43087.1 . . . . . . . . . . C 35 5.416008 0.96092 . . ENSG00000225697 ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649 D;D;D;D;D;D;D 0.93859 -3.03;-3.03;-3.15;-2.99;-3.02;-3.12;-3.3 4.92 4.92 0.64577 . . . . . D 0.97142 0.9066 M 0.86343 2.81 0.58432 D 0.999999 D;P;D;D;D;D;D 0.89917 1.0;0.952;1.0;1.0;1.0;1.0;1.0 D;P;D;D;D;D;D 0.97110 1.0;0.841;1.0;1.0;1.0;1.0;0.996 D 0.97654 1.0156 9 0.87932 D 0 . 18.6614 0.91473 0.0:1.0:0.0:0.0 . 454;503;383;490;490;490;3895 B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190 .;.;.;.;.;S26A6_HUMAN;. N 490;490;490;383;503;469;454;298 ENSP00000404684:D490N;ENSP00000378920:D490N;ENSP00000373239:D490N;ENSP00000337648:D383N;ENSP00000351597:D469N;ENSP00000401066:D454N;ENSP00000389922:D298N ENSP00000337648:D383N D - 1 0 SLC26A6 48642370 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 4.298000 0.59067 2.699000 0.92147 0.655000 0.94253 GAC TCGA-LB-A9Q5-01A-11D-A397-08 SLC26A6-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000345040.1 1 0 0 12 205 0 52 1 2.463685e-01 2 14 0 52 2 0 0 0 0 0 2 1 0.999099 11 202 0 52 2 0 0 0 0 0 2 -3.325469 1 1 0 0 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.470000 0.250000 0.810000 0.460000 0.493694 0.470000 0 0.350000 0.620000 OR5K1 26339 broad.mit.edu 37 3 98188534 98188534 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:98188534C>T ENST00000332650.5 + 1 211 c.114C>T c.(112-114)acC>acT p.T38T NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 p.T38T(2) 30 ATCTGATCACCGTGGTGGGGA 0.433000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000332650.5 1 1 hg19 CCDS43115.1 TCGA-LB-A9Q5-01A-11D-A397-08 OR5K1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359019.1 0 0 0 21 738 0 232 0 0 0 0 232 2 0 0 0 0 0 2 1 0.999993 19 666 0 278 2 0 0 0 0 0 2 -2.023983 0 1 121406 3 40 1 1 2 3 2.001181 0 0.240000 2 0.241820 0.230000 0.140000 0.360000 0.230000 0.247933 0.230000 0 0.180000 0.290000 DNAH5 1767 broad.mit.edu 37 5 13891148 13891148 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:13891148C>T ENST00000265104.4 - 17 2618 c.2514G>A c.(2512-2514)acG>acA p.T838T CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 378 Lung NSC(4;0.00476) GACAAAGAGGCGTGCTGCTCA 0.408000 Kartagener syndrome 0 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome ENST00000265104.4 0 1 hg19 CCDS3882.1 TCGA-LB-A9Q5-01A-11D-A397-08 DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 0 0 0 12 639 0 162 0 0 0 0 162 2 0 0 0 0 0 2 1 0.999097 12 636 0 161 2 0 0 0 0 0 2 -2.542959 1 1 0 0 1 1 2 3 2.009230 0 0.240000 2 0.243631 0.150000 0.080000 1.000000 0.150000 0.189913 0.150000 0 0.110000 0.220000 GALNT10 55568 broad.mit.edu 37 5 153760011 153760011 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:153760011G>A ENST00000297107.6 + 6 895 c.758G>A c.(757-759)cGc>cAc p.R253H SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN polypeptide N-acetylgalactosaminyltransferase 10 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TCTTCAGACCGCATTGCTCGG 0.502000 0 SO:0001583 missense ENST00000297107.6 0 1 hg19 CCDS4325.1 . . . . . . . . . . G 20.7 4.038191 0.75617 . . ENSG00000164574 ENST00000425427;ENST00000297107;ENST00000377661 T;T;T 0.61742 0.08;0.08;0.22 5.41 5.41 0.78517 Glycosyl transferase, family 2 (1); 0.052285 0.85682 D 0.000000 T 0.70029 0.3177 M 0.67625 2.065 0.80722 D 1 D;D;D 0.76494 0.991;0.999;0.997 P;P;P 0.59288 0.855;0.801;0.607 T 0.71487 -0.4578 10 0.51188 T 0.08 . 14.7691 0.69662 0.0:0.1441:0.8559:0.0 . 191;253;253 Q86SR1-2;Q86SR1;Q86SR1-3 .;GLT10_HUMAN;. H 253;253;191 ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H ENSP00000297107:R253H R + 2 0 GALNT10 153740204 1.000000 0.71417 0.998000 0.56505 0.959000 0.62525 6.457000 0.73505 2.535000 0.85469 0.462000 0.41574 CGC TCGA-LB-A9Q5-01A-11D-A397-08 GALNT10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252453.1 0 0 0 5 584 1 149 0 1.428892e-02 0 17 1 149 2 0 0 0 0 0 2 1 0.937501 5 583 0 147 2 0 0 0 0 0 2 -1.857861 0 1 121412 1 34 1 1 2 3 2.009230 0 0.240000 2 0.243631 0.070000 0.020000 1.000000 0.070000 0.110910 0.070000 0 0.040000 0.120000 PIK3CG 5294 broad.mit.edu 37 7 106508683 106508683 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:106508683G>A ENST00000359195.3 + 2 987 c.677G>A c.(676-678)cGc>cAc p.R226H PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 132 GTCATTCACCGCAGCACCACC 0.572000 0 SO:0001583 missense ENST00000359195.3 0 1 hg19 CCDS5739.1 . . . . . . . . . . G 11.11 1.543339 0.27563 . . ENSG00000105851 ENST00000440650;ENST00000496166;ENST00000359195 T;T;T 0.70282 -0.47;-0.47;-0.47 5.5 5.5 0.81552 Phosphoinositide 3-kinase, ras-binding (2); 0.132697 0.56097 D 0.000040 T 0.64114 0.2569 L 0.44542 1.39 0.43564 D 0.995886 P 0.50066 0.931 P 0.45377 0.478 T 0.59150 -0.7508 10 0.14252 T 0.57 -24.9223 13.0307 0.58840 0.074:0.0:0.926:0.0 . 226 P48736 PK3CG_HUMAN H 226 ENSP00000392258:R226H;ENSP00000419260:R226H;ENSP00000352121:R226H ENSP00000352121:R226H R + 2 0 PIK3CG 106295919 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.392000 0.59659 2.736000 0.93811 0.591000 0.81541 CGC TCGA-LB-A9Q5-01A-11D-A397-08 PIK3CG-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349294.1 0 0 0 5 476 1 121 0 1.796622e-04 0 2 1 121 2 0 0 0 0 0 2 0 0.019002 5 474 1 121 15 0 0 0 0 0 2 -2.359945 0 1 0 0 1 1 2 3 2.018893 0 0.240000 2 0.245433 0.090000 0.030000 1.000000 0.090000 0.145699 0.090000 0 0.050000 0.160000 ABCA13 154664 broad.mit.edu 37 7 48494876 48494876 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:48494876T>C ENST00000435803.1 + 43 12832 c.12808T>C c.(12808-12810)Ttt>Ctt p.F4270L ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 270 CGAGACCTACTTTTTCAGGTA 0.463000 0 SO:0001583 missense ENST00000435803.1 1 1 hg19 CCDS47584.1 . . . . . . . . . . T 16.31 3.087255 0.55968 . . ENSG00000179869 ENST00000435803;ENST00000411975;ENST00000544596 D;D;D 0.91407 -2.32;-2.39;-2.84 5.0 5.0 0.66597 . 0.000000 0.49916 D 0.000134 D 0.94984 0.8377 M 0.86420 2.815 0.44234 D 0.997078 P;D;D 0.69078 0.745;0.99;0.997 P;D;D 0.75020 0.652;0.909;0.985 D 0.94276 0.7515 10 0.35671 T 0.21 . 11.3979 0.49854 0.0:0.0:0.0:1.0 . 30;1972;4270 F5H7B7;Q86UQ4-3;Q86UQ4 .;.;ABCAD_HUMAN L 4270;73;30 ENSP00000411096:F4270L;ENSP00000391042:F73L;ENSP00000442634:F30L ENSP00000391042:F73L F + 1 0 ABCA13 48465422 1.000000 0.71417 0.964000 0.40570 0.174000 0.22865 4.818000 0.62657 2.006000 0.58801 0.459000 0.35465 TTT TCGA-LB-A9Q5-01A-11D-A397-08 ABCA13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341964.2 1 0 0 7 71 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 0.981420 7 70 0 26 2 0 0 0 0 0 2 -12.623190 1 1 0 0 1 1 2 3 2.018893 0 0.240000 2 0.245433 0.790000 0.360000 1.000000 1.000000 0.775994 0.790000 0 0.540000 1.000000 SCRIB 23513 broad.mit.edu 37 8 144895217 144895217 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:144895217G>A ENST00000320476.3 - 7 631 c.625C>T c.(625-627)Ctg>Ttg p.L209L SCRIB_ENST00000356994.2_Silent_p.L209L|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.L128L NM_015356.4 NP_056171 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGTGCTGACAGCTGGTTCCGG 0.622000 Pancreas(51;966 1133 10533 14576 29674) 0 SO:0001819 synonymous_variant ENST00000320476.3 0 1 hg19 CCDS6411.1 TCGA-LB-A9Q5-01A-11D-A397-08 SCRIB-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000382215.1 0 0 0 3 22 0 12 0 8.364176e-01 0 27 0 12 2 0 0 0 0 0 2 1 0.799609 3 21 0 12 2 0 0 0 0 0 2 -8.940018 1 1 0 0 1 1 2 3 2.011056 0 0.240000 2 0.243631 0.990000 0.320000 1.000000 1.000000 0.855537 0.990000 1 0.610000 1.000000 MYOM2 9172 broad.mit.edu 37 8 2041906 2041906 + Nonsense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:2041906C>T ENST00000262113.4 + 17 2254 c.2113C>T c.(2113-2115)Cag>Tag p.Q705* MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130* NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) CATAAAAGTGCAGGCCGCACT 0.488000 0 SO:0001587 stop_gained ENST00000262113.4 0 1 hg19 CCDS5957.1 . . . . . . . . . . C 17.08 3.297700 0.60086 . . ENSG00000036448 ENST00000262113;ENST00000523438 . . . 5.44 5.44 0.79542 . 0.157344 0.48286 D 0.000183 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 14.1534 0.65401 0.1499:0.8501:0.0:0.0 . . . . X 705;130 . ENSP00000262113:Q705X Q + 1 0 MYOM2 2029313 1.000000 0.71417 0.998000 0.56505 0.034000 0.12701 2.879000 0.48522 2.558000 0.86282 0.655000 0.94253 CAG TCGA-LB-A9Q5-01A-11D-A397-08 MYOM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251249.1 0 0 0 8 254 0 67 0 0 0 1 0 67 2 0 0 0 0 0 2 1 0.989345 8 252 0 67 2 0 0 0 0 0 2 -3.424635 1 1 0 0 1 1 2 3 2.011056 0 0.240000 2 0.243631 0.270000 0.120000 1.000000 0.250000 0.302749 0.270000 0 0.180000 0.380000 TEX15 56154 broad.mit.edu 37 8 30705431 30705431 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:30705431C>T ENST00000256246.2 - 1 1177 c.1103G>A c.(1102-1104)gGg>gAg p.G368E TEX15_ENST00000523186.1_5'Flank NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 138 ATTTATTTTCCCCAATTTCAG 0.383000 0 SO:0001583 missense ENST00000256246.2 1 1 hg19 CCDS6080.1 . . . . . . . . . . C 0.007 -2.000801 0.00431 . . ENSG00000133863 ENST00000256246 T 0.08193 3.12 5.51 -1.54 0.08584 . 0.673251 0.14063 N 0.343910 T 0.02156 0.0067 N 0.01168 -0.975 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.39482 -0.9612 10 0.87932 D 0 . 1.294 0.02066 0.1349:0.2395:0.1397:0.4859 . 368 Q9BXT5 TEX15_HUMAN E 368 ENSP00000256246:G368E ENSP00000256246:G368E G - 2 0 TEX15 30824973 0.043000 0.20138 0.001000 0.08648 0.169000 0.22640 0.166000 0.16583 -0.412000 0.07519 -0.312000 0.09012 GGG TCGA-LB-A9Q5-01A-11D-A397-08 TEX15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376193.1 0 0 0 14 369 0 107 0 0 0 0 107 2 0 0 0 0 0 2 1 0.999762 14 368 0 106 2 0 0 0 0 0 2 -3.221883 1 1 0 0 1 1 2 3 2.011056 0 0.240000 2 0.243631 0.310000 0.170000 1.000000 0.310000 0.343066 0.310000 0 0.230000 0.410000 TACC1 6867 broad.mit.edu 37 8 38677137 38677137 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:38677137G>A ENST00000317827.4 + 3 754 c.375G>A c.(373-375)caG>caA p.Q125Q TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Silent_p.Q125Q|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR NM_006283.2 NP_006274.2 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TGCCACAGCAGGCCATTGACT 0.383000 0 SO:0001819 synonymous_variant ENST00000317827.4 1 1 hg19 CCDS6109.1 TCGA-LB-A9Q5-01A-11D-A397-08 TACC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000376768.1 0 0 0 10 367 0 108 0 2.493309e-01 0 33 0 108 2 0 0 0 0 0 2 1 0.996761 10 362 0 107 2 0 0 0 0 0 2 -9.842539 1 1 0 0 1 1 2 3 2.011056 0 0.240000 2 0.243631 0.230000 0.110000 1.000000 0.220000 0.262875 0.230000 0 0.160000 0.320000 TPD52 7163 broad.mit.edu 37 8 80954871 80954871 + Missense_Mutation SNP T T G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:80954871T>G ENST00000379097.3 - 5 901 c.539A>C c.(538-540)aAg>aCg p.K180T TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000379096.5_Missense_Mutation_p.K140T NM_001025252.1 NP_001020423.1 P55327 TPD52_HUMAN tumor protein D52 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) GTTTTCGACCTTTTCTTCAAA 0.308000 0 SO:0001583 missense ENST00000379097.3 1 1 hg19 CCDS34912.1 . . . . . . . . . . T 19.33 3.807809 0.70797 . . ENSG00000076554 ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303 T;T;T;T;T;T;T;T 0.28895 1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59 5.11 5.11 0.69529 . 0.143577 0.64402 D 0.000008 T 0.56016 0.1957 M 0.86028 2.79 0.80722 D 1 D;D;D 0.89917 0.997;0.999;1.0 D;D;D 0.81914 0.925;0.982;0.995 T 0.61397 -0.7071 10 0.66056 D 0.02 -31.5479 9.074 0.36511 0.0:0.0816:0.0:0.9184 . 140;163;180 P55327-2;E5RKB4;P55327 .;.;TPD52_HUMAN T 180;140;163;203;189;194;180;140;16 ENSP00000438113:K180T;ENSP00000368390:K140T;ENSP00000429915:K163T;ENSP00000429309:K203T;ENSP00000429351:K189T;ENSP00000410222:K194T;ENSP00000368391:K180T;ENSP00000428951:K16T ENSP00000368390:K140T K - 2 0 TPD52 81117426 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.512000 0.53407 2.265000 0.75225 0.482000 0.46254 AAG TCGA-LB-A9Q5-01A-11D-A397-08 TPD52-006 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000379539.2 0 0 0 11 274 0 85 1 8.009196e-01 9 68 0 85 2 0 0 0 0 0 2 1 0.998390 11 273 0 85 2 0 0 0 0 0 2 -3.221883 1 1 0 0 1 1 2 3 2.011056 0 0.240000 2 0.243631 0.330000 0.170000 1.000000 0.320000 0.365120 0.330000 0 0.240000 0.460000 TGFBR1 7046 broad.mit.edu 37 9 101911492 101911492 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:101911492G>A ENST00000374994.4 + 9 1534 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 27 Acute lymphoblastic leukemia(62;0.0559) AATTATGAGAGAATGTTGGTA 0.348000 0 SO:0001583 missense ENST00000374994.4 0 1 hg19 CCDS6738.1 . . . . . . . . . . G 28.0 4.880269 0.91740 . . ENSG00000106799 ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253 T;T;T;T 0.63580 -0.05;-0.05;-0.05;-0.05 5.66 5.66 0.87406 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.80204 0.4580 M 0.75884 2.315 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.85130 0.986;0.997 T 0.81272 -0.1008 10 0.87932 D 0 . 18.8853 0.92375 0.0:0.0:1.0:0.0 . 396;473 P36897-3;P36897 .;TGFR1_HUMAN K 473;435;396;477;404 ENSP00000364133:E473K;ENSP00000364129:E396K;ENSP00000447297:E477K;ENSP00000450052:E404K ENSP00000364129:E396K E + 1 0 TGFBR1 100951313 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.869000 0.99810 2.827000 0.97445 0.655000 0.94253 GAA TCGA-LB-A9Q5-01A-11D-A397-08 TGFBR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053390.3 0 0 0 10 178 0 55 1 5.255390e-01 2 29 0 55 2 1 9.999998e-01 40 716 0 840 2 1 0.997040 10 177 0 54 2 0 0 0 0 0 2 -13.494670 1 1 0 0 1 0 1 1 1.978128 0 0.240000 2 0.212598 0.430000 0.220000 0.720000 0.420000 0.456509 0.430000 0 0.310000 0.580000 CACNA1B 774 broad.mit.edu 37 9 140952516 140952516 + Silent SNP C C T rs140374106 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:140952516C>T ENST00000371372.1 + 28 4267 c.4122C>T c.(4120-4122)tcC>tcT p.S1374S CACNA1B_ENST00000277551.2_Silent_p.S1374S|CACNA1B_ENST00000277549.5_Silent_p.S570S|CACNA1B_ENST00000371355.4_Silent_p.S1375S|CACNA1B_ENST00000371363.1_Silent_p.S1374S|CACNA1B_ENST00000371357.1_Silent_p.S1375S NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 80 all_cancers(76;0.166) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) TGAAACACTCCGTGGATGCCA 0.562000 0 SO:0001819 synonymous_variant ENST00000371372.1 1 0 hg19 CCDS59522.1 TCGA-LB-A9Q5-01A-11D-A397-08 CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055380.1 1 0 0 15 225 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 0.999883 15 224 0 62 2 0 0 0 0 0 2 -2.842482 1 1 120944 65 49 1 0 1 1 1.978128 0 0.240000 2 0.212598 0.500000 0.290000 0.770000 0.500000 0.523576 0.500000 0 0.390000 0.640000 BEX4 56271 broad.mit.edu 37 X 102471391 102471391 + Missense_Mutation SNP C C T rs139178618 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:102471391C>T ENST00000372695.5 + 3 545 c.310C>T c.(310-312)Cgc>Tgc p.R104C BEX4_ENST00000372691.3_Missense_Mutation_p.R104C NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 9 GCACTATATGCGCTTCCAAAC 0.418000 0 SO:0001583 missense ENST00000372695.5 1 1 hg19 CCDS35355.1 . . . . . . . . . . C 15.25 2.778944 0.49891 . . ENSG00000102409 ENST00000372695;ENST00000372691 T;T 0.49720 0.77;0.77 3.84 2.98 0.34508 . 0.159217 0.30277 N 0.009992 T 0.43344 0.1243 M 0.76170 2.325 0.09310 N 1 B 0.26195 0.144 B 0.21151 0.033 T 0.44907 -0.9297 10 0.59425 D 0.04 . 6.479 0.22053 0.0:0.8657:0.0:0.1343 . 104 Q9NWD9 BEX4_HUMAN C 104 ENSP00000361780:R104C;ENSP00000361776:R104C ENSP00000361776:R104C R + 1 0 BEX4 102358047 0.001000 0.12720 0.001000 0.08648 0.847000 0.48162 0.082000 0.14847 0.979000 0.38497 0.594000 0.82650 CGC TCGA-LB-A9Q5-01A-11D-A397-08 BEX4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057694.1 0 0 0 19 566 0 129 0 7.530266e-01 0 82 0 129 2 0 0 0 0 0 2 1 0.999990 19 562 0 129 2 0 0 0 0 0 2 -2.453738 0 1 0 0 1 0 1 1 0.240000 2 0.240000 0.270000 0.160000 0.410000 0.270000 0.282381 0.270000 0 0.210000 0.340000 MTM1 4534 broad.mit.edu 37 X 149832023 149832023 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:149832023C>T ENST00000370396.2 + 14 1639 c.1585C>T c.(1585-1587)Cgt>Tgt p.R529C MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C|MTM1_ENST00000542741.1_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 26 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAGTATGCGTCACTTGGA 0.358000 0 SO:0001583 missense ENST00000370396.2 0 1 hg19 CCDS14694.1 . . . . . . . . . . C 15.29 2.790939 0.50102 . . ENSG00000171100 ENST00000370396;ENST00000543350;ENST00000413012 D;D;D 0.90261 -2.64;-2.64;-2.64 5.39 4.52 0.55395 Myotubularin phosphatase domain (1); 0.000000 0.85682 D 0.000000 D 0.89798 0.6819 M 0.85777 2.775 0.80722 D 1 P;B 0.35033 0.481;0.245 B;B 0.26094 0.055;0.066 D 0.87953 0.2725 10 0.44086 T 0.13 . 13.4599 0.61221 0.0:0.9221:0.0:0.0779 . 492;529 B7Z491;Q13496 .;MTM1_HUMAN C 529;414;492 ENSP00000359423:R529C;ENSP00000439784:R414C;ENSP00000389157:R492C ENSP00000359423:R529C R + 1 0 MTM1 149582681 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.262000 0.78410 1.039000 0.40074 0.513000 0.50165 CGT TCGA-LB-A9Q5-01A-11D-A397-08 MTM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060847.3 0 0 0 6 723 0 225 0 4.411844e-03 0 10 0 225 2 0 0 0 0 0 2 1 0.964769 6 721 0 225 2 0 0 0 0 0 2 -2.417651 0 1 0 0 1 0 1 1 0.240000 2 0.240000 0.070000 0.020000 0.140000 0.070000 0.079448 0.070000 0 0.040000 0.110000 HUWE1 10075 broad.mit.edu 37 X 53566769 53566769 + Silent SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:53566769G>T ENST00000342160.3 - 74 11938 c.11481C>A c.(11479-11481)tcC>tcA p.S3827S HUWE1_ENST00000262854.6_Silent_p.S3827S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 153 GGGTTCCATCGGAGGCTGGAG 0.502000 0 SO:0001819 synonymous_variant ENST00000342160.3 0 1 hg19 CCDS35301.1 TCGA-LB-A9Q5-01A-11D-A397-08 HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056766.1 1 0 0 4 79 0 14 1 8.337717e-01 20 47 0 14 2 0 0 0 0 0 2 1 0.889231 4 78 0 14 2 0 0 0 0 0 2 -4.107394 1 1 0 0 1 0 1 1 0.240000 2 0.240000 0.430000 0.150000 0.900000 0.390000 0.469893 0.430000 0 0.260000 0.660000