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 DIXDC1 85458 broad.mit.edu 37 11 111853203 111853203 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:111853203G>A ENST00000440460.2 + 8 1204 c.907G>A c.(907-909)Gga>Aga p.G303R DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R|DIXDC1_ENST00000389821.4_3'UTR NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) AATGATATCAGGACTACAGGT 0.368000 0 SO:0001583 missense ENST00000440460.2 0 1 hg19 . . . . . . . . . . G 18.01 3.528320 0.64860 . . ENSG00000150764 ENST00000440460;ENST00000315253 T;T 0.19806 2.12;2.12 6.16 6.16 0.99307 . 0.354131 0.36519 N 0.002544 T 0.43612 0.1255 . . . 0.54753 D 0.999988 B;D 0.89917 0.05;1.0 B;D 0.76575 0.048;0.988 T 0.01858 -1.1259 9 0.19590 T 0.45 -10.0595 19.4236 0.94732 0.0:0.0:1.0:0.0 . 92;304 E7EQ17;Q155Q3 .;DIXC1_HUMAN R 303;92 ENSP00000394352:G303R;ENSP00000314068:G92R ENSP00000314068:G92R G + 1 0 DIXDC1 111358413 1.000000 0.71417 1.000000 0.80357 0.970000 0.65996 4.817000 0.62650 2.937000 0.99478 0.650000 0.86243 GGA TCGA-2L-AAQI-01A-12D-A397-08 DIXDC1-202 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 6 71 0 21 1 1.918343e-01 2 7 0 21 2 0 0 0 0 0 2 1 0.967009 6 71 0 21 2 0 0 0 0 0 2 -10.626720 1 1 0 0 1 1 2 3 2.070542 0 0.290000 1.810000 0.294094 0.570000 2.400000e-01 1.000000 1.000000 0.602160 0.570000 0 0.380000 0.830000 MRPL16 54948 broad.mit.edu 37 11 59573897 59573897 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:59573897G>A ENST00000300151.4 - 4 892 c.679C>T c.(679-681)Cgg>Tgg p.R227W NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 11 AGTACTTTCCGTATGCCCAGC 0.468000 0 SO:0001583 missense ENST00000300151.4 0 1 hg19 CCDS7976.1 . . . . . . . . . . G 19.63 3.863130 0.71949 . . ENSG00000166902 ENST00000300151 T 0.25912 1.77 6.07 4.02 0.46733 . 0.045846 0.85682 D 0.000000 T 0.47637 0.1456 M 0.74258 2.255 0.80722 D 1 D 0.89917 1.0 D 0.74348 0.983 T 0.50676 -0.8800 10 0.87932 D 0 -22.0244 10.3068 0.43685 0.0:0.1084:0.6643:0.2273 . 227 Q9NX20 RM16_HUMAN W 227 ENSP00000300151:R227W ENSP00000300151:R227W R - 1 2 MRPL16 59330473 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.383000 0.52471 1.562000 0.49601 0.655000 0.94253 CGG TCGA-2L-AAQI-01A-12D-A397-08 MRPL16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394521.1 0 0 0 5 648 0 138 0 4.002915e-01 0 155 0 138 2 0 0 0 0 0 2 1 0.937248 6 645 0 138 2 0 0 0 0 0 2 -2.207349 0 1 121412 4 42 1 1 2 3 2.082394 0 0.290000 1.810000 0.296124 0.050000 1.000000e-02 1.000000 0.060000 0.107439 0.050000 0 0.030000 0.100000 CNGA4 1262 broad.mit.edu 37 11 6261751 6261751 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr11:6261751G>A ENST00000379936.2 + 4 842 c.727G>A c.(727-729)Gag>Aag p.E243K CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 p.E243K(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) CAGGGAAGAAGAGTACCTCTT 0.552000 1 Substitution - Missense(1) SO:0001583 missense ENST00000379936.2 1 1 hg19 CCDS31408.1 . . . . . . . . . . G 21.3 4.133543 0.77662 . . ENSG00000132259 ENST00000379936 D 0.97731 -4.51 5.3 5.3 0.74995 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.99281 0.9749 H 0.98005 4.125 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.77557 0.99;0.982 D 0.98722 1.0709 10 0.87932 D 0 . 17.8807 0.88840 0.0:0.0:1.0:0.0 . 243;203 Q8IV77;Q8IV77-2 CNGA4_HUMAN;. K 243 ENSP00000369268:E243K ENSP00000369268:E243K E + 1 0 CNGA4 6218327 1.000000 0.71417 1.000000 0.80357 0.186000 0.23388 9.420000 0.97426 2.640000 0.89533 0.561000 0.74099 GAG TCGA-2L-AAQI-01A-12D-A397-08 CNGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383765.2 1 0 1 56 344 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 1.000000 54 341 0 76 2 0 0 0 0 0 2 -3.222344 1 1 0 0 1 1 2 3 2.082394 0 0.290000 1.810000 0.296124 0.970000 7.500000e-01 1.000000 1.000000 0.944158 0.970000 1 0.850000 1.000000 NCOR2 9612 broad.mit.edu 37 12 124816902 124816902 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:124816902C>A ENST00000405201.1 - 43 6867 c.6867G>T c.(6865-6867)aaG>aaT p.K2289N NCOR2_ENST00000356219.3_Missense_Mutation_p.K2296N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) TGTTCAGCTTCTTGTTGATCT 0.607000 OREG0022237 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000405201.1 0 1 hg19 CCDS41858.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 14.73|14.73 2.623667|2.623667 0.46840|0.46840 .|. .|. ENSG00000196498|ENSG00000196498 ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337 T;T;T;T;T;T|. 0.26810|. 1.71;1.99;1.72;1.99;1.73;1.98|. 4.4|4.4 4.4|4.4 0.53042|0.53042 .|. 0.056456|. 0.64402|. D|. 0.000001|. T|T 0.63792|0.63792 0.2541|0.2541 M|M 0.64997|0.64997 1.995|1.995 0.47584|0.47584 D|D 0.999463|0.999463 D;D;D|. 0.76494|. 0.999;0.995;0.991|. D;D;D|. 0.80764|. 0.994;0.98;0.979|. T|T 0.63292|0.63292 -0.6670|-0.6670 10|5 0.87932|. D|. 0|. -35.1737|-35.1737 10.6433|10.6433 0.45604|0.45604 0.0:0.9104:0.0:0.0896|0.0:0.9104:0.0:0.0896 .|. 2280;2289;2300|. C9J239;C9JFD3;Q9Y618|. .;.;NCOR2_HUMAN|. N|I 2289;2279;2296;2280;2288;1850;381;2279|161;80 ENSP00000384018:K2289N;ENSP00000384202:K2279N;ENSP00000348551:K2296N;ENSP00000380513:K2280N;ENSP00000385618:K1850N;ENSP00000400281:K2279N|. ENSP00000348551:K2296N|. K|R -|- 3|2 2|0 NCOR2|NCOR2 123382855|123382855 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.960000|0.960000 0.62799|0.62799 2.101000|2.101000 0.41787|0.41787 1.981000|1.981000 0.57761|0.57761 0.462000|0.462000 0.41574|0.41574 AAG|AGA TCGA-2L-AAQI-01A-12D-A397-08 NCOR2-005 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318173.2 0 0 0 5 360 0 89 0 8.223016e-01 0 229 0 89 2 0 0 0 0 0 2 1 0.937952 6 359 0 89 2 0 0 0 0 0 2 -3.031984 1 1 0 0 1 0 1 1 1.801923 1 0.290000 1.810000 0.169591 0.080000 2.000000e-02 0.180000 0.080000 0.095104 0.080000 0 0.050000 0.130000 GPR133 283383 broad.mit.edu 37 12 131569149 131569149 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:131569149G>A ENST00000261654.5 + 15 2171 c.1612G>A c.(1612-1614)Gtc>Atc p.V538I GPR133_ENST00000535015.1_Missense_Mutation_p.V570I|GPR133_ENST00000376682.4_Missense_Mutation_p.V224I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) CACCTACTCCGTCTGCCGCTG 0.622000 0 SO:0001583 missense ENST00000261654.5 1 1 hg19 CCDS9272.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 4.863 0.160432 0.09287 . . ENSG00000111452 ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617 T;T;T;T 0.69175 -0.38;-0.38;-0.38;-0.38 4.99 -6.86 0.01676 GPS domain (3); 1.327960 0.05058 N 0.479422 T 0.45498 0.1345 N 0.13235 0.315 0.09310 N 0.999996 B;B;B 0.15930 0.003;0.012;0.015 B;B;B 0.15870 0.004;0.005;0.014 T 0.47222 -0.9134 10 0.09338 T 0.73 . 15.0568 0.71921 0.6686:0.0:0.3314:0.0 . 570;57;538 B7ZLF7;Q6QNK2-3;Q6QNK2 .;.;GP133_HUMAN I 538;570;224;57 ENSP00000261654:V538I;ENSP00000444425:V570I;ENSP00000365872:V224I;ENSP00000438021:V57I ENSP00000261654:V538I V + 1 0 GPR133 130135102 0.001000 0.12720 0.002000 0.10522 0.157000 0.22087 -0.217000 0.09253 -1.452000 0.01931 -2.516000 0.00186 GTC TCGA-2L-AAQI-01A-12D-A397-08 GPR133-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399356.1 1 0 1 41 200 0 46 0 3.473397e-01 0 7 0 46 2 0 0 0 0 0 2 1 1.000000 41 199 0 44 2 0 0 0 0 0 2 -3.204582 1 1 121410 6 38 1 0 1 1 1.801923 1 0.290000 1.810000 0.169591 0.900000 7.000000e-01 1.000000 0.980000 0.893778 0.900000 1 0.800000 0.970000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-2L-AAQI-01A-12D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 34 272 0 56 1 7.633422e-01 10 14 0 56 2 1 1 43 379 0 173 2 1 1.000000 34 271 0 56 2 1 1 1230 6776 4 8006 12 -13.942770 1 1 0 0 1 1 2 3 2.119234 0 0.290000 1.810000 0.302143 0.790000 5.600000e-01 1.000000 1.000000 0.808335 0.790000 0 0.660000 0.980000 CNTN1 1272 broad.mit.edu 37 12 41323657 41323657 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:41323657C>T ENST00000551295.2 + 7 673 c.556C>T c.(556-558)Cgg>Tgg p.R186W CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AATGGATAAACGGCGATTTGT 0.378000 0 SO:0001583 missense ENST00000551295.2 1 1 hg19 CCDS8737.1 . . . . . . . . . . C 18.58 3.654902 0.67472 . . ENSG00000018236 ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761 D;D;D;D;D;D 0.82081 -1.57;-1.57;-1.57;-1.57;-1.57;-1.57 5.17 4.27 0.50696 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 D 0.93494 0.7924 H 0.95917 3.74 0.52501 D 0.99995 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.94943 0.8093 10 0.87932 D 0 . 13.2205 0.59885 0.2891:0.7109:0.0:0.0 . 186;175;186 Q12860-3;Q12860-2;Q12860 .;.;CNTN1_HUMAN W 186;186;186;186;186;175 ENSP00000448004:R186W;ENSP00000447006:R186W;ENSP00000448653:R186W;ENSP00000325660:R186W;ENSP00000353213:R186W;ENSP00000261160:R175W ENSP00000325660:R186W R + 1 2 CNTN1 39609924 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 2.900000 0.48687 1.308000 0.44962 0.655000 0.94253 CGG TCGA-2L-AAQI-01A-12D-A397-08 CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403692.2 1 0 1 68 426 0 103 0 3.083668e-01 0 8 0 103 2 0 0 0 0 0 2 1 1.000000 68 421 0 102 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.119234 0 0.290000 1.810000 0.302143 0.970000 7.600000e-01 1.000000 1.000000 0.946369 0.970000 1 0.860000 1.000000 KRT6B 3854 broad.mit.edu 37 12 52845384 52845384 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr12:52845384C>T ENST00000252252.3 - 1 526 c.479G>A c.(478-480)cGg>cAg p.R160Q NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 40 CTCCTCGGCCCGCACCCGCTG 0.597000 0 SO:0001583 missense ENST00000252252.3 0 1 hg19 CCDS8828.1 . . . . . . . . . . C 14.68 2.606483 0.46527 . . ENSG00000185479 ENST00000252252;ENST00000544607 D 0.85556 -2.0 3.28 0.429 0.16506 . 0.089287 0.44902 D 0.000418 D 0.88890 0.6560 M 0.94021 3.485 0.32244 N 0.572368 D 0.60160 0.987 P 0.48552 0.581 D 0.88941 0.3380 10 0.87932 D 0 . 8.7904 0.34848 0.0:0.7388:0.0:0.2612 . 160 P04259 K2C6B_HUMAN Q 160 ENSP00000252252:R160Q ENSP00000252252:R160Q R - 2 0 KRT6B 51131651 0.168000 0.22989 0.024000 0.17045 0.255000 0.26057 0.832000 0.27490 0.094000 0.17404 0.298000 0.19748 CGG TCGA-2L-AAQI-01A-12D-A397-08 KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404969.1 0 0 0 19 512 0 115 0 0 0 1 0 115 2 0 0 0 0 0 2 1 0.999941 14 418 0 184 2 0 0 0 0 0 2 -2.681262 1 1 121406 2 31 1 1 2 3 2.091128 0 0.290000 1.810000 0.297134 0.250000 1.500000e-01 1.000000 0.250000 0.301491 0.250000 0 0.200000 0.330000 SLITRK5 26050 broad.mit.edu 37 13 88329453 88329453 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr13:88329453C>T ENST00000325089.6 + 2 2029 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 p.R604C(1) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACCGACATGCGCTCCATTAA 0.567000 1 Substitution - Missense(1) SO:0001583 missense ENST00000325089.6 0 1 hg19 CCDS9465.1 . . . . . . . . . . C 16.04 3.011439 0.54468 0.0 1.16E-4 ENSG00000165300 ENST00000325089;ENST00000400028 T;T 0.61158 0.13;0.49 5.47 4.54 0.55810 Cysteine-rich flanking region, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.78033 0.4220 M 0.87971 2.92 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79784 0.987;0.993 T 0.81450 -0.0927 9 . . . -15.1954 14.535 0.67953 0.1566:0.8434:0.0:0.0 . 363;604 B4DSH5;O94991 .;SLIK5_HUMAN C 604;363 ENSP00000366283:R604C;ENSP00000442244:R363C . R + 1 0 SLITRK5 87127454 1.000000 0.71417 0.999000 0.59377 0.994000 0.84299 3.167000 0.50793 2.554000 0.86153 0.555000 0.69702 CGC TCGA-2L-AAQI-01A-12D-A397-08 SLITRK5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045416.3 0 0 0 7 876 0 182 0 1.336522e-03 0 6 0 182 2 0 0 0 0 0 2 1 0.979983 8 865 0 180 2 0 0 0 0 0 2 -1.756732 0 1 121412 1 37 1 1 2 3 2.086869 0 0.290000 1.810000 0.296124 0.050000 1.000000e-02 1.000000 0.060000 0.106784 0.050000 0 0.030000 0.090000 DLK1 8788 broad.mit.edu 37 14 101200618 101200618 + Silent SNP C C T rs143814604 byFrequency TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr14:101200618C>T ENST00000341267.4 + 5 779 c.537C>T c.(535-537)tgC>tgT p.C179C DLK1_ENST00000331224.6_Silent_p.C179C NM_003836.5 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 29 Melanoma(154;0.155) CCAACCCATGCGAGAACGACG 0.657000 0 SO:0001819 synonymous_variant ENST00000341267.4 1 1 hg19 CCDS9963.1 TCGA-2L-AAQI-01A-12D-A397-08 DLK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414389.1 0 0 1 49 337 0 69 0 9.999976e-01 0 133 0 69 2 0 0 0 0 0 2 1 1.000000 49 334 0 67 2 0 0 0 0 0 2 -19.752180 1 1 121402 19 45 1 1 2 3 2.098086 0 0.290000 1.810000 0.298142 0.890000 6.700000e-01 1.000000 1.000000 0.888443 0.890000 1 0.770000 1.000000 NAGPA 51172 broad.mit.edu 37 16 5077996 5077996 + Nonsense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:5077996C>A ENST00000312251.3 - 6 1130 c.1111G>T c.(1111-1113)Gga>Tga p.G371* RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371* NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 12 N-Acetyl-D-glucosamine(DB00141) GTGCACAGTCCGTGCTGGCTG 0.687000 0 SO:0001587 stop_gained ENST00000312251.3 0 1 hg19 CCDS10527.1 . . . . . . . . . . C 18.32 3.597193 0.66332 . . ENSG00000103174 ENST00000312251;ENST00000381955 . . . 4.42 4.42 0.53409 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 -29.7837 17.027 0.86450 0.0:1.0:0.0:0.0 . . . . X 371 . ENSP00000310998:G371X G - 1 0 NAGPA 5017997 1.000000 0.71417 0.351000 0.25721 0.106000 0.19336 7.381000 0.79718 2.002000 0.58637 0.561000 0.74099 GGA TCGA-2L-AAQI-01A-12D-A397-08 NAGPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207003.1 1 0 1 22 166 0 39 1 7.878343e-01 2 22 0 39 2 0 0 0 0 0 2 1 0.999999 22 165 0 39 2 0 0 0 0 0 2 -3.076474 1 1 0 0 1 1 2 3 2.086316 0 0.290000 1.810000 0.296124 0.820000 5.300000e-01 1.000000 1.000000 0.825569 0.820000 0 0.670000 1.000000 TMEM186 25880 broad.mit.edu 37 16 8890319 8890319 + Silent SNP C C T rs149142450 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr16:8890319C>T ENST00000333050.6 - 2 165 c.132G>A c.(130-132)tcG>tcA p.S44S PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 9 GTTTCTCCTTCGAGATGGGTG 0.532000 0 SO:0001819 synonymous_variant ENST00000333050.6 1 1 hg19 CCDS10535.1 TCGA-2L-AAQI-01A-12D-A397-08 TMEM186-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251903.1 1 0 0 44 415 0 102 0 9.032090e-01 1 39 0 102 2 0 0 0 0 0 2 1 1.000000 44 413 0 102 2 0 0 0 0 0 2 -13.604630 1 1 121412 6 42 1 1 2 3 2.086316 0 0.290000 1.810000 0.296124 0.670000 4.900000e-01 1.000000 0.660000 0.690748 0.670000 0 0.570000 0.790000 TEX2 55852 broad.mit.edu 37 17 62290359 62290359 + Missense_Mutation SNP A A C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:62290359A>C ENST00000583097.1 - 2 1391 c.1219T>G c.(1219-1221)Ttg>Gtg p.L407V TEX2_ENST00000258991.3_Missense_Mutation_p.L407V|TEX2_ENST00000584379.1_Missense_Mutation_p.L407V Q8IWB9 TEX2_HUMAN testis expressed 2 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) AAGGCAGACAAAGAACATTTC 0.448000 0 SO:0001583 missense ENST00000583097.1 1 1 hg19 . . . . . . . . . . A 6.515 0.463155 0.12402 . . ENSG00000136478 ENST00000258991 T 0.54866 0.55 6.11 -3.07 0.05363 . 0.241819 0.43260 D 0.000598 T 0.45577 0.1349 L 0.56769 1.78 0.25501 N 0.987551 P;P 0.42827 0.791;0.687 B;B 0.44133 0.442;0.257 T 0.47522 -0.9111 10 0.54805 T 0.06 -10.7897 8.1698 0.31247 0.4215:0.0:0.463:0.1155 . 407;407 Q8IWB9-2;Q8IWB9 .;TEX2_HUMAN V 407 ENSP00000258991:L407V ENSP00000258991:L407V L - 1 2 TEX2 59644091 0.625000 0.27111 0.126000 0.21872 0.971000 0.66376 1.066000 0.30604 -0.522000 0.06417 -0.250000 0.11733 TTG TCGA-2L-AAQI-01A-12D-A397-08 TEX2-003 KNOWN alternative_5_UTR|basic|appris_candidate protein_coding protein_coding OTTHUMT00000443745.1 1 0 1 88 532 0 130 1 8.989089e-01 3 23 0 130 2 0 0 0 0 0 2 1 1.000000 87 529 0 130 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.087263 0 0.290000 1.810000 0.297134 0.990000 8.000000e-01 1.000000 1.000000 0.959778 0.990000 1 0.890000 1.000000 TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C C G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 C G C C Valid Somatic Phase_I WXS targeted Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:7577090C>G ENST00000269305.4 - 8 1037 c.848G>C c.(847-849)cGc>cCc p.R283P TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TTCCTCTGTGCGCCGGTCTCT 0.562000 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 73 Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1) GRCh37 CM021154 TP53 M SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . C 18.76 3.692626 0.68271 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D 0.99804 -6.83;-6.83;-6.83;-6.83;-6.83;-6.83 4.99 4.02 0.46733 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.056377 0.64402 D 0.000003 D 0.99641 0.9868 M 0.78049 2.395 0.28236 N 0.925907 P;D;D;P 0.76494 0.939;0.999;0.977;0.951 P;D;D;D 0.70016 0.889;0.967;0.933;0.933 D 0.98126 1.0428 10 0.87932 D 0 -4.3612 11.3481 0.49573 0.0:0.9114:0.0:0.0886 . 283;283;283;283 P04637-2;P04637-3;P04637;Q1MSW8 .;.;P53_HUMAN;. P 283;283;283;283;283;272;151 ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P ENSP00000269305:R283P R - 2 0 TP53 7517815 0.998000 0.40836 0.015000 0.15790 0.873000 0.50193 3.584000 0.53936 1.318000 0.45170 0.462000 0.41574 CGC TCGA-2L-AAQI-01A-12D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 29 132 0 39 1 9.999854e-01 46 39 0 39 2 1 1 146 930 0 645 2 1 1.000000 29 132 0 39 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.790263 1 0.290000 1.810000 0.169591 0.900000 6.800000e-01 1.000000 0.990000 0.889786 0.900000 1 0.790000 0.970000 LGALS3BP 3959 broad.mit.edu 37 17 76968673 76968673 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr17:76968673G>A ENST00000262776.3 - 6 1051 c.743C>T c.(742-744)gCc>gTc p.A248V LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GAGGAGGATGGCAAAGAGGCT 0.617000 GBM(89;1105 1755 18102 21513) 0 SO:0001583 missense ENST00000262776.3 1 1 hg19 CCDS11759.1 . . . . . . . . . . G 6.875 0.530901 0.13127 . . ENSG00000108679 ENST00000262776;ENST00000536190 T 0.01422 4.91 3.65 0.453 0.16639 BTB/POZ fold (1); 0.197685 0.25183 N 0.032512 T 0.01387 0.0045 L 0.44542 1.39 0.09310 N 0.999999 B 0.15141 0.012 B 0.10450 0.005 T 0.46952 -0.9154 10 0.25751 T 0.34 -24.5418 6.2835 0.21021 0.3254:0.0:0.6746:0.0 . 248 Q08380 LG3BP_HUMAN V 248;236 ENSP00000262776:A248V ENSP00000262776:A248V A - 2 0 LGALS3BP 74480268 0.743000 0.28239 0.008000 0.14137 0.424000 0.31475 2.722000 0.47269 0.146000 0.19002 0.561000 0.74099 GCC TCGA-2L-AAQI-01A-12D-A397-08 LGALS3BP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437785.3 1 0 1 29 227 0 42 1 1 843 1440 0 42 2 0 0 0 0 0 2 1 1.000000 28 221 0 39 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.087263 0 0.290000 1.810000 0.297134 0.800000 5.500000e-01 1.000000 1.000000 0.807942 0.800000 0 0.660000 0.970000 MAST1 22983 broad.mit.edu 37 19 12969441 12969441 + Missense_Mutation SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:12969441G>C ENST00000251472.4 + 12 1293 c.1254G>C c.(1252-1254)caG>caC p.Q418H MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H NM_014975.2 NP_055790.1 microtubule associated serine/threonine kinase 1 56 AGATCCAGCAGGCCTTTGTGG 0.587000 0 SO:0001583 missense ENST00000251472.4 1 1 hg19 CCDS32921.1 . . . . . . . . . . G 18.17 3.564284 0.65651 . . ENSG00000105613 ENST00000251472;ENST00000542153 T 0.66460 -0.21 4.75 3.71 0.42584 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.60248 0.2254 N 0.03071 -0.42 0.58432 D 0.999992 D;B 0.76494 0.999;0.357 D;B 0.87578 0.998;0.237 T 0.69343 -0.5170 10 0.87932 D 0 -32.5112 11.0071 0.47641 0.0928:0.0:0.9072:0.0 . 418;418 Q9Y2H9;F5H2S9 MAST1_HUMAN;. H 418 ENSP00000251472:Q418H ENSP00000251472:Q418H Q + 3 2 MAST1 12830441 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.809000 0.62591 1.144000 0.42321 0.561000 0.74099 CAG TCGA-2L-AAQI-01A-12D-A397-08 MAST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451733.2 1 0 0 14 216 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 0.999768 14 214 0 62 2 0 0 0 0 0 2 -17.659470 1 1 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.430000 2.400000e-01 1.000000 0.420000 0.465581 0.430000 0 0.330000 0.570000 ATP4A 495 broad.mit.edu 37 19 36051809 36051809 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:36051809G>A ENST00000262623.3 - 5 474 c.446C>T c.(445-447)gCt>gTt p.A149V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129) GACAACCACAGCAATGAGAGC 0.587000 0 SO:0001583 missense ENST00000262623.3 0 1 hg19 CCDS12467.1 . . . . . . . . . . g 14.83 2.651116 0.47362 . . ENSG00000105675 ENST00000262623 D 0.90563 -2.69 3.22 3.22 0.36961 ATPase, P-type, ATPase-associated domain (1);ATPase, P-type, cytoplasmic transduction domain A (1); 0.000000 0.64402 D 0.000018 T 0.81735 0.4885 N 0.17838 0.53 0.58432 D 0.999991 B 0.19445 0.036 B 0.27796 0.083 T 0.73704 -0.3899 10 0.10377 T 0.69 . 11.9305 0.52843 0.0:0.0:1.0:0.0 . 149 P20648 ATP4A_HUMAN V 149 ENSP00000262623:A149V ENSP00000262623:A149V A - 2 0 ATP4A 40743649 0.998000 0.40836 0.990000 0.47175 0.830000 0.47004 4.954000 0.63631 1.620000 0.50308 0.197000 0.17608 GCT TCGA-2L-AAQI-01A-12D-A397-08 ATP4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109470.2 0 0 0 5 388 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 0.935372 5 382 0 69 2 0 0 0 0 0 2 -3.219679 1 1 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.090000 3.000000e-02 1.000000 0.090000 0.138869 0.090000 0 0.050000 0.150000 CCDC8 83987 broad.mit.edu 37 19 46914987 46914987 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:46914987C>T ENST00000307522.3 - 1 1854 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 23 GCAGCCTCTTCCCTCTGGTTA 0.597000 0 SO:0001583 missense ENST00000307522.3 1 1 hg19 CCDS12685.1 . . . . . . . . . . C 9.334 1.061247 0.19987 . . ENSG00000169515 ENST00000307522 T 0.11495 2.77 3.19 3.19 0.36642 . 0.455403 0.16199 N 0.225029 T 0.07007 0.0178 N 0.19112 0.55 0.21325 N 0.999721 B 0.25169 0.119 B 0.21546 0.035 T 0.31833 -0.9929 10 0.15066 T 0.55 0.0165 12.6394 0.56700 0.0:1.0:0.0:0.0 . 361 Q9H0W5 CCDC8_HUMAN K 361 ENSP00000303158:E361K ENSP00000303158:E361K E - 1 0 CCDC8 51606827 0.000000 0.05858 0.029000 0.17559 0.042000 0.13812 -0.412000 0.07132 2.093000 0.63338 0.297000 0.19635 GAA TCGA-2L-AAQI-01A-12D-A397-08 CCDC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368598.1 1 0 1 103 618 0 132 0 9.672482e-01 0 35 0 132 2 0 0 0 0 0 2 1 1.000000 100 609 0 131 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.990000 8.200000e-01 1.000000 1.000000 0.963205 0.990000 1 0.900000 1.000000 PLEKHA4 57664 broad.mit.edu 37 19 49340735 49340735 + Missense_Mutation SNP C C G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:49340735C>G ENST00000263265.6 - 20 2706 c.2151G>C c.(2149-2151)gaG>gaC p.E717D HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR|HSD17B14_ENST00000263278.4_5'Flank NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) GGGGAGGGGTCTCCTGGCGCG 0.672000 0 SO:0001583 missense ENST00000263265.6 0 1 hg19 CCDS12737.1 . . . . . . . . . . c 12.76 2.035882 0.35893 . . ENSG00000105559 ENST00000263265 T 0.08370 3.1 4.1 0.204 0.15199 . 1.664920 0.03742 N 0.255152 T 0.05181 0.0138 N 0.08118 0 0.09310 N 0.999997 B 0.02656 0.0 B 0.01281 0.0 T 0.39583 -0.9607 10 0.39692 T 0.17 . 6.9353 0.24463 0.1931:0.4688:0.3382:0.0 . 717 Q9H4M7 PKHA4_HUMAN D 717 ENSP00000263265:E717D ENSP00000263265:E717D E - 3 2 PLEKHA4 54032547 0.000000 0.05858 0.000000 0.03702 0.287000 0.27160 -0.065000 0.11617 0.057000 0.16193 0.299000 0.19835 GAG TCGA-2L-AAQI-01A-12D-A397-08 PLEKHA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466216.1 0 0 0 5 324 0 50 0 5.839805e-01 0 117 0 50 2 0 0 0 0 0 2 0 0.933358 0 320 0 49 2 0 0 0 0 0 2 -5.481152 1 0 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.110000 3.000000e-02 1.000000 0.100000 0.158234 0.110000 0 0.070000 0.180000 RRAS 6237 broad.mit.edu 37 19 50139001 50139001 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:50139001G>A ENST00000246792.3 - 5 664 c.562C>T c.(562-564)Cgg>Tgg p.R188W NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 6 CGGACAGCCCGCACCAGCTGC 0.597000 0 SO:0001583 missense ENST00000246792.3 0 1 hg19 CCDS12774.1 . . . . . . . . . . G 19.01 3.744428 0.69418 . . ENSG00000126458 ENST00000246792 T 0.79454 -1.27 4.85 4.85 0.62838 . 0.204104 0.34067 N 0.004286 D 0.90459 0.7012 H 0.96398 3.815 0.58432 D 0.999999 D 0.89917 1.0 D 0.71184 0.972 D 0.92164 0.5738 10 0.87932 D 0 . 10.503 0.44817 0.0:0.0:0.6965:0.3035 . 188 P10301 RRAS_HUMAN W 188 ENSP00000246792:R188W ENSP00000246792:R188W R - 1 2 RRAS 54830813 0.312000 0.24545 0.994000 0.49952 0.740000 0.42216 2.016000 0.40971 2.509000 0.84616 0.491000 0.48974 CGG TCGA-2L-AAQI-01A-12D-A397-08 RRAS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465791.1 0 0 0 6 454 0 98 0 9.859706e-01 0 602 0 98 2 0 0 0 1 0 0 2 1 0.963752 6 448 0 95 2 0 0 0 0 0 2 -2.244413 0 1 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.090000 3.000000e-02 1.000000 0.090000 0.138704 0.090000 0 0.060000 0.150000 LILRB1 10859 broad.mit.edu 37 19 55144109 55144109 + Missense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:55144109C>A ENST00000396331.1 + 7 1213 c.856C>A c.(856-858)Cct>Act p.P286T LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 74 CACCCTGGGCCCTGTGAGCCG 0.632000 HNSCC(37;0.09) 0 SO:0001583 missense ENST00000396331.1 1 1 hg19 CCDS42617.1 . . . . . . . . . . C 8.074 0.770833 0.15983 . . ENSG00000104972 ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315 T;T;T;T;T;T;T;T;T;T;T 0.11495 2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77 2.03 -1.43 0.08884 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.672928 0.12913 N 0.428831 T 0.31358 0.0794 M 0.91090 3.175 0.09310 N 1 B;D;P;P;D 0.65815 0.387;0.969;0.767;0.83;0.995 B;P;P;P;D 0.67382 0.241;0.868;0.53;0.646;0.951 T 0.07809 -1.0753 10 0.66056 D 0.02 . 4.745 0.13033 0.0:0.4872:0.0:0.5128 . 286;286;286;286;286 A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6 .;.;.;.;LIRB1_HUMAN T 286;286;286;286;286;286;286;286;322;286;286 ENSP00000379614:P286T;ENSP00000391514:P286T;ENSP00000409968:P286T;ENSP00000379622:P286T;ENSP00000379618:P286T;ENSP00000315997:P286T;ENSP00000405243:P286T;ENSP00000379623:P286T;ENSP00000395004:P322T;ENSP00000379610:P286T;ENSP00000379608:P286T ENSP00000315997:P286T P + 1 0 LILRB1 59835921 0.000000 0.05858 0.001000 0.08648 0.067000 0.16453 -1.269000 0.02834 -0.418000 0.07450 0.194000 0.17425 CCT TCGA-2L-AAQI-01A-12D-A397-08 LILRB1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000140796.4 1 0 0 26 356 0 76 0 1.457254e-02 0 3 0 76 2 0 0 0 0 0 2 1 1.000000 24 339 0 84 2 0 0 0 0 0 2 -3.142702 1 1 0 0 1 1 2 3 2.063628 0 0.290000 1.810000 0.292053 0.470000 3.100000e-01 0.700000 0.460000 0.488303 0.470000 0 0.380000 0.580000 RFX2 5990 broad.mit.edu 37 19 6013025 6013025 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr19:6013025G>A ENST00000303657.5 - 8 1020 c.871C>T c.(871-873)Cgg>Tgg p.R291W RFX2_ENST00000592546.1_Missense_Mutation_p.R266W|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W|CTC-232P5.1_ENST00000587836.1_RNA NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 21 GGCTGCTGCCGCATGGCCATG 0.622000 Colon(38;171 817 19800 47433 48051) 0 SO:0001583 missense ENST00000303657.5 0 1 hg19 CCDS12157.1 . . . . . . . . . . G 22.2 4.263838 0.80358 . . ENSG00000087903 ENST00000303657;ENST00000359161;ENST00000537791 T 0.68903 -0.36 4.99 0.693 0.18056 . 0.000000 0.85682 D 0.000000 T 0.81517 0.4839 M 0.86178 2.8 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.982 D 0.83606 0.0131 10 0.87932 D 0 -48.1749 13.7584 0.62950 0.0:0.0:0.234:0.766 . 266;291 P48378-2;P48378 .;RFX2_HUMAN W 291;266;78 ENSP00000306335:R291W ENSP00000306335:R291W R - 1 2 RFX2 5964025 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 1.976000 0.40579 0.152000 0.19188 0.557000 0.71058 CGG TCGA-2L-AAQI-01A-12D-A397-08 RFX2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452687.1 0 0 0 7 870 0 175 0 3.178309e-03 0 9 0 175 2 0 0 0 0 0 2 1 0.980308 7 866 0 172 2 0 0 0 0 0 2 -2.092584 0 1 0 0 1 1 2 3 2.076358 0 0.290000 1.810000 0.295110 0.050000 1.000000e-02 1.000000 0.060000 0.098675 0.050000 0 0.030000 0.090000 NES 10763 broad.mit.edu 37 1 156641485 156641485 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:156641485G>A ENST00000368223.3 - 4 2627 c.2495C>T c.(2494-2496)gCg>gTg p.A832V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCTTGTCCCGCAGACTTCAG 0.413000 0 SO:0001583 missense ENST00000368223.3 0 1 hg19 CCDS1151.1 . . . . . . . . . . G 15.56 2.868932 0.51588 . . ENSG00000132688 ENST00000368223 D 0.85955 -2.05 5.68 -1.11 0.09840 . 0.494478 0.15171 N 0.276645 T 0.52208 0.1720 L 0.38838 1.175 0.09310 N 1 B 0.25312 0.123 B 0.12837 0.008 T 0.36040 -0.9764 10 0.35671 T 0.21 . 1.1534 0.01790 0.3298:0.2257:0.3163:0.1282 . 832 P48681 NEST_HUMAN V 832 ENSP00000357206:A832V ENSP00000357206:A832V A - 2 0 NES 154908109 0.000000 0.05858 0.001000 0.08648 0.305000 0.27757 -0.007000 0.12810 0.332000 0.23536 0.563000 0.77884 GCG TCGA-2L-AAQI-01A-12D-A397-08 NES-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000082844.2 0 0 0 8 786 1 160 0 1.418588e-02 0 74 1 160 4 0 0 0 0 0 2 0 0.051478 7 785 1 160 17 0 0 0 0 0 2 -1.951808 0 1 121410 1 39 1 1 2 3 2.111475 0 0.290000 1.810000 0.301147 0.070000 2.000000e-02 1.000000 0.070000 0.160840 0.070000 0 0.040000 0.120000 CTRC 11330 broad.mit.edu 37 1 15769925 15769925 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:15769925C>T ENST00000375949.4 + 5 394 c.368C>T c.(367-369)gCc>gTc p.A123V CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_Missense_Mutation_p.P60S NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) AATGATATTGCCCTCATCAAG 0.592000 0 SO:0001583 missense ENST00000375949.4 0 1 hg19 CCDS156.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 26.9|26.9 4.783551|4.783551 0.90282|0.90282 .|. .|. ENSG00000162438|ENSG00000162438 ENST00000375949|ENST00000375943 D|. 0.97941|. -4.62|. 4.91|4.91 4.91|4.91 0.64330|0.64330 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|. 0.000000|. 0.85682|. D|. 0.000000|. D|D 0.85066|0.85066 0.5612|0.5612 M|M 0.91717|0.91717 3.235|3.235 0.42584|0.42584 D|D 0.993226|0.993226 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.91635|. 0.999;0.999|. D|D 0.88780|0.88780 0.3270|0.3270 10|6 0.87932|0.87932 D|D 0|0 -50.5833|-50.5833 16.8963|16.8963 0.86101|0.86101 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 123;123|. A8MTQ9;Q99895|. .;CTRC_HUMAN|. V|S 123|60 ENSP00000365116:A123V|. ENSP00000365116:A123V|ENSP00000365110:P60S A|P +|+ 2|1 0|0 CTRC|CTRC 15642512|15642512 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.693000|0.693000 0.40251|0.40251 7.562000|7.562000 0.82300|0.82300 2.576000|2.576000 0.86940|0.86940 0.549000|0.549000 0.68633|0.68633 GCC|CCC TCGA-2L-AAQI-01A-12D-A397-08 CTRC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000006435.1 0 0 0 7 1218 0 299 0 9.970995e-01 0 1945 0 299 2 0 0 0 0 0 2 1 0.980062 7 1209 0 297 2 0 0 0 0 0 2 -2.555883 1 1 0 0 1 0 1 1 1.832690 1 0.290000 1.810000 0.182075 0.030000 1.000000e-02 0.070000 0.030000 0.038885 0.030000 0 0.010000 0.050000 NHLH1 4807 broad.mit.edu 37 1 160340909 160340909 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:160340909G>A ENST00000302101.5 + 2 834 c.388G>A c.(388-390)Gtg>Atg p.V130M NM_005598.3 NP_005589.1 Q02575 HEN1_HUMAN nescient helix loop helix 1 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTGAACCACGTGCTGGACGT 0.622000 0 SO:0001583 missense ENST00000302101.5 1 1 hg19 CCDS1204.1 . . . . . . . . . . G 15.52 2.857019 0.51376 . . ENSG00000171786 ENST00000302101 D 0.88509 -2.39 3.98 3.98 0.46160 Helix-loop-helix DNA-binding (3); 0.000000 0.49305 D 0.000146 T 0.73713 0.3622 L 0.47190 1.495 0.58432 D 0.999997 P 0.41569 0.755 B 0.21360 0.034 T 0.77838 -0.2439 10 0.33940 T 0.23 -29.3292 15.1633 0.72801 0.0:0.0:1.0:0.0 . 130 Q02575 HEN1_HUMAN M 130 ENSP00000302189:V130M ENSP00000302189:V130M V + 1 0 NHLH1 158607533 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.477000 0.73591 2.215000 0.71742 0.655000 0.94253 GTG TCGA-2L-AAQI-01A-12D-A397-08 NHLH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080676.1 1 0 1 48 278 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 1.000000 46 273 0 60 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.111475 0 0.290000 1.810000 0.301147 0.990000 7.800000e-01 1.000000 1.000000 0.966656 0.990000 1 0.900000 1.000000 OR2M2 391194 broad.mit.edu 37 1 248344094 248344094 + Silent SNP G G A rs140026971 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr1:248344094G>A ENST00000359682.2 + 1 807 c.807G>A c.(805-807)acG>acA p.T269T NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 p.T269T(1) 70 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;0.0245) ACTCCCCAACGCAGGACAAGA 0.502000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000359682.2 1 1 hg19 CCDS31106.1 TCGA-2L-AAQI-01A-12D-A397-08 OR2M2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097356.2 1 0 1 107 681 0 185 0 0 0 0 185 2 0 0 0 0 0 2 1 1.000000 103 676 0 188 2 0 0 0 0 0 2 -20.000000 1 1 121412 14 48 1 1 2 3 2.111475 0 0.290000 1.810000 0.301147 0.950000 7.900000e-01 1.000000 1.000000 0.943847 0.950000 1 0.860000 1.000000 DNMT3B 1789 broad.mit.edu 37 20 31388072 31388072 + Missense_Mutation SNP G G A rs77767360 by1000genomes TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31388072G>A ENST00000328111.2 + 17 2194 c.1873G>A c.(1873-1875)Gtg>Atg p.V625M DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 39 TATCAAATACGTGAACGACGT 0.493000 0 SO:0001583 missense ENST00000328111.2 1 1 hg19 CCDS13205.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 23.1 4.372608 0.82573 . . ENSG00000088305 ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963 T;T;T;T;T;T;T 0.77750 -1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12 5.65 5.65 0.86999 . 0.058115 0.64402 D 0.000002 D 0.83133 0.5188 M 0.66439 2.03 0.80722 D 1 D;P;P;P;B;P;P 0.55800 0.973;0.952;0.909;0.778;0.435;0.491;0.689 P;P;P;B;B;B;P 0.51193 0.523;0.641;0.662;0.322;0.146;0.322;0.554 D 0.84179 0.0438 10 0.59425 D 0.04 -22.0454 19.0797 0.93177 0.0:0.0:1.0:0.0 . 529;563;324;617;605;605;625 E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3 .;.;.;.;.;.;DNM3B_HUMAN M 625;605;605;563;529;605;617 ENSP00000328547:V625M;ENSP00000313397:V605M;ENSP00000337764:V605M;ENSP00000403169:V563M;ENSP00000412305:V529M;ENSP00000345105:V605M;ENSP00000201963:V617M ENSP00000201963:V617M V + 1 0 DNMT3B 30851733 1.000000 0.71417 0.951000 0.38953 0.794000 0.44872 7.973000 0.88032 2.810000 0.96702 0.650000 0.86243 GTG TCGA-2L-AAQI-01A-12D-A397-08 DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078643.2 1 0 1 63 407 0 86 1 9.214169e-02 2 2 0 86 2 0 0 0 0 0 2 1 1.000000 63 404 0 85 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.025662 0 0.290000 1.810000 0.277427 0.900000 7.100000e-01 1.000000 1.000000 0.900503 0.900000 1 0.800000 1.000000 DNMT3B 1789 broad.mit.edu 37 20 31388677 31388677 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31388677G>A ENST00000328111.2 + 18 2263 c.1942G>A c.(1942-1944)Gga>Aga p.G648R DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 39 GGTGATTGGCGGAAGCCCATG 0.522000 0 SO:0001583 missense ENST00000328111.2 0 1 hg19 CCDS13205.1 . . . . . . . . . . G 36 5.691842 0.96793 . . ENSG00000088305 ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963 D;D;D;D;D;D;D 0.93547 -3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24 6.07 6.07 0.98685 . 0.000000 0.85682 D 0.000000 D 0.98172 0.9396 H 0.97635 4.045 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;0.997;1.0;1.0 D;D;D;D;D;D;D 0.97110 0.998;0.996;0.988;1.0;0.997;1.0;1.0 D 0.98850 1.0758 10 0.87932 D 0 -22.4387 19.2231 0.93806 0.0:0.0:1.0:0.0 . 552;586;347;640;628;628;648 E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3 .;.;.;.;.;.;DNM3B_HUMAN R 648;628;628;586;552;628;640 ENSP00000328547:G648R;ENSP00000313397:G628R;ENSP00000337764:G628R;ENSP00000403169:G586R;ENSP00000412305:G552R;ENSP00000345105:G628R;ENSP00000201963:G640R ENSP00000201963:G640R G + 1 0 DNMT3B 30852338 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.779000 0.99018 2.885000 0.99019 0.655000 0.94253 GGA TCGA-2L-AAQI-01A-12D-A397-08 DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078643.2 0 0 0 6 886 0 158 0 1.022059e-03 0 6 0 158 2 0 0 0 1 0 0 2 1 0.964161 5 880 0 157 2 0 0 0 0 0 2 -1.778336 0 1 0 0 1 0 0 0 2.025662 0 0.290000 1.810000 0.277427 0.040000 1.000000e-02 0.100000 0.040000 0.052940 0.040000 0 0.020000 0.070000 CDK5RAP1 51654 broad.mit.edu 37 20 31984682 31984682 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:31984682C>T ENST00000357886.4 - 2 342 c.189G>A c.(187-189)ccG>ccA p.P63P CDK5RAP1_ENST00000339269.5_Silent_p.P63P|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Silent_p.P63P Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 26 GTTGAAAAGTCGGTCCAGCAG 0.517000 0 SO:0001819 synonymous_variant ENST00000357886.4 1 1 hg19 TCGA-2L-AAQI-01A-12D-A397-08 CDK5RAP1-011 KNOWN basic protein_coding protein_coding OTTHUMT00000078697.1 1 0 1 65 329 0 76 1 8.959031e-01 6 16 0 76 2 0 0 0 0 0 2 1 1.000000 64 326 0 76 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.025662 0 0.290000 1.810000 0.277427 0.990000 8.800000e-01 1.000000 1.000000 0.989801 0.990000 1 0.990000 1.000000 CDH4 1002 broad.mit.edu 37 20 60503309 60503309 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr20:60503309C>T ENST00000360469.5 + 12 1921 c.1833C>T c.(1831-1833)aaC>aaT p.N611N CDH4_ENST00000543233.1_Silent_p.N537N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TCAACGACAACGCCCCTGAGC 0.627000 0 SO:0001819 synonymous_variant ENST00000360469.5 1 1 hg19 CCDS13488.1 TCGA-2L-AAQI-01A-12D-A397-08 CDH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079965.2 0 0 0 110 879 1 204 0 0 0 1 204 2 0 0 0 0 0 2 1 1.000000 109 867 1 202 17 0 0 0 0 0 2 -20.000000 1 1 121404 2 38 1 0 0 0 2.025662 0 0.290000 1.810000 0.277427 0.740000 6.200000e-01 0.880000 0.750000 0.757018 0.740000 0 0.680000 0.820000 IKZF2 22807 broad.mit.edu 37 2 213872107 213872107 + Nonsense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:213872107G>A ENST00000434687.1 - 9 1867 c.1558C>T c.(1558-1560)Cga>Tga p.R520* IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R520* Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) TGCTCCCCTCGAACAATGTGT 0.483000 0 SO:0001587 stop_gained ENST00000434687.1 0 1 hg19 CCDS2395.1 . . . . . . . . . . G 36 5.623235 0.96660 . . ENSG00000030419 ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010 . . . 5.67 5.67 0.87782 . 0.000000 0.53938 D 0.000060 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -3.7304 19.7738 0.96383 0.0:0.0:1.0:0.0 . . . . X 520;526;520;494;448;446;375;224 . ENSP00000342876:R526X R - 1 2 IKZF2 213580352 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.894000 0.87336 2.672000 0.90937 0.655000 0.94253 CGA TCGA-2L-AAQI-01A-12D-A397-08 IKZF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256593.3 1 0 1 35 269 0 69 1 5.360529e-01 4 11 0 69 2 0 0 0 0 0 2 1 1.000000 33 266 0 69 2 0 0 0 0 0 2 -3.142725 1 1 0 0 1 0 1 1 2.050658 0 0.290000 1.810000 0.287935 0.790000 5.600000e-01 1.000000 1.000000 0.798341 0.790000 0 0.670000 0.920000 UGT1A10 54575 broad.mit.edu 37 2 234545974 234545974 + Missense_Mutation SNP T T G TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr2:234545974T>G ENST00000344644.5 + 1 875 c.806T>G c.(805-807)aTg>aGg p.M269R UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R|UGT1A1_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 Q9HAW8 UD110_HUMAN UDP glucuronosyltransferase 1 family, polypeptide A10 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313) ATGCCCAACATGATCTTCATT 0.433000 0 SO:0001583 missense ENST00000344644.5 0 1 hg19 CCDS33403.1 . . . . . . . . . . T 16.17 3.046766 0.55110 . . ENSG00000242515 ENST00000344644;ENST00000373445 T;T 0.61859 0.07;0.07 3.56 3.56 0.40772 . . . . . T 0.80869 0.4706 H 0.95816 3.725 0.36481 D 0.867853 D;D 0.61697 0.961;0.99 P;D 0.67725 0.908;0.953 D 0.88685 0.3205 9 0.87932 D 0 . 12.6049 0.56516 0.0:0.0:0.0:1.0 . 269;269 Q9HAW8;Q7Z6H8 UD110_HUMAN;. R 269 ENSP00000343838:M269R;ENSP00000362544:M269R ENSP00000343838:M269R M + 2 0 UGT1A10 234210713 1.000000 0.71417 0.996000 0.52242 0.924000 0.55760 4.888000 0.63164 1.632000 0.50472 0.333000 0.21579 ATG TCGA-2L-AAQI-01A-12D-A397-08 UGT1A10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000130986.1 0 0 0 7 1213 0 235 1 6.652814e-01 10 367 0 235 2 0 0 0 0 0 2 1 0.980236 6 1208 0 234 2 0 0 0 0 0 2 -3.294109 1 0 0 0 1 0 1 1 2.050658 0 0.290000 1.810000 0.287935 0.030000 0 0.080000 0.040000 0.044967 0.030000 0 0.020000 0.060000 SLC6A1 6529 broad.mit.edu 37 3 11064024 11064024 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:11064024G>A ENST00000287766.4 + 7 1005 c.584G>A c.(583-585)cGc>cAc p.R195H SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 26 Ovarian(110;0.0392) Clobazam(DB00349)|Tiagabine(DB00906) TTGACCAGGCGCAACATGCAT 0.597000 0 SO:0001583 missense ENST00000287766.4 0 1 hg19 CCDS2603.1 . . . . . . . . . . G 18.21 3.572459 0.65765 . . ENSG00000157103 ENST00000287766;ENST00000536032 T;T 0.77489 -1.1;-1.1 5.02 4.15 0.48705 . 0.074293 0.56097 N 0.000023 T 0.74876 0.3774 M 0.73372 2.23 0.80722 D 1 P 0.39665 0.682 B 0.35859 0.212 T 0.76699 -0.2863 10 0.48119 T 0.1 . 13.6297 0.62188 0.0746:0.0:0.9254:0.0 . 195 P30531 SC6A1_HUMAN H 195;17 ENSP00000287766:R195H;ENSP00000445171:R17H ENSP00000287766:R195H R + 2 0 SLC6A1 11039024 1.000000 0.71417 0.997000 0.53966 0.888000 0.51559 5.479000 0.66813 1.340000 0.45581 0.561000 0.74099 CGC TCGA-2L-AAQI-01A-12D-A397-08 SLC6A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102767.2 0 0 0 4 119 0 16 0 0 0 1 0 16 2 0 0 0 0 0 2 1 0.889680 4 118 0 16 2 0 0 0 0 0 2 -6.495645 1 1 121412 3 31 1 0 1 1 1.937603 0 0.290000 1.810000 0.239259 0.220000 7.000000e-02 0.480000 0.210000 0.250860 0.220000 0 0.130000 0.350000 PLA1A 51365 broad.mit.edu 37 3 119331938 119331938 + Missense_Mutation SNP G G A rs140761557 TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:119331938G>A ENST00000273371.4 + 5 709 c.637G>A c.(637-639)Gtg>Atg p.V213M PLA1A_ENST00000495992.1_Missense_Mutation_p.V197M|PLA1A_ENST00000488919.1_Missense_Mutation_p.V40M|PLA1A_ENST00000494440.1_Missense_Mutation_p.V197M NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 30 TGCCCTCTTCGTGGAAGCCAT 0.592000 0 SO:0001583 missense ENST00000273371.4 0 0 hg19 CCDS2991.1 . . . . . . . . . . G 28.6 4.935632 0.92458 0.0 2.33E-4 ENSG00000144837 ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963 D;D;D;D;D 0.96104 -3.91;-3.91;-3.91;-3.91;-3.91 5.68 5.68 0.88126 Lipase, N-terminal (1); 0.000000 0.85682 D 0.000000 D 0.98729 0.9573 H 0.98133 4.155 0.53688 D 0.999979 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.99564 1.0969 10 0.87932 D 0 -15.9752 17.5869 0.87984 0.0:0.0:1.0:0.0 . 197;213 Q53H76-3;Q53H76 .;PLA1A_HUMAN M 213;40;197;197;79 ENSP00000273371:V213M;ENSP00000420625:V40M;ENSP00000417326:V197M;ENSP00000418793:V197M;ENSP00000417295:V79M ENSP00000273371:V213M V + 1 0 PLA1A 120814628 1.000000 0.71417 0.991000 0.47740 0.934000 0.57294 8.933000 0.92911 2.696000 0.92011 0.555000 0.69702 GTG TCGA-2L-AAQI-01A-12D-A397-08 PLA1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355252.2 1 0 1 10 63 0 14 0 7.052286e-01 0 17 0 14 2 0 0 0 0 0 2 1 0.997377 9 63 0 14 2 0 0 0 0 0 2 -17.580930 1 0 121394 3 35 1 0 1 1 1.945308 0 0.290000 1.810000 0.241615 0.870000 4.600000e-01 1.000000 1.000000 0.843801 0.870000 1 0.650000 1.000000 KALRN 8997 broad.mit.edu 37 3 123813627 123813627 + Translation_Start_Site SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:123813627G>A ENST00000240874.3 + 0 100 KALRN_ENST00000460856.1_De_novo_Start_InFrame|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000360013.3_De_novo_Start_InFrame NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 83 TCGAGTCAGCGGTGGTGGGAT 0.602000 0 ENST00000240874.3 0 1 hg19 CCDS3027.1 TCGA-2L-AAQI-01A-12D-A397-08 KALRN-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000258843.4 0 0 0 14 94 0 22 0 0 0 0 22 2 1 1 22 291 0 168 2 1 0.999798 13 93 0 21 2 0 0 0 0 0 2 -9.313086 1 1 0 0 1 0 1 1 1.945308 0 0.290000 1.810000 0.241615 0.830000 4.900000e-01 1.000000 1.000000 0.823900 0.830000 0 0.640000 1.000000 C3orf27 23434 broad.mit.edu 37 3 128292432 128292432 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:128292432C>T ENST00000356020.2 - 3 1107 c.141G>A c.(139-141)aaG>aaA p.K47K NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 8 TGCCTAGAAGCTTCCAACCAC 0.627000 0 SO:0001819 synonymous_variant ENST00000356020.2 1 1 hg19 CCDS3050.1 TCGA-2L-AAQI-01A-12D-A397-08 C3orf27-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356924.1 1 0 1 35 212 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 1.000000 34 209 0 42 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.945308 0 0.290000 1.810000 0.241615 0.900000 6.500000e-01 1.000000 1.000000 0.894895 0.900000 1 0.770000 1.000000 MED12L 116931 broad.mit.edu 37 3 150908624 150908624 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:150908624G>A ENST00000474524.1 + 13 1912 c.1874G>A c.(1873-1875)gGa>gAa p.G625E RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E|MED12L_ENST00000422248.2_Missense_Mutation_p.G625E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATATCTCGAGGAGATTTGTCA 0.488000 0 SO:0001583 missense ENST00000474524.1 1 1 hg19 CCDS33876.1 . . . . . . . . . . G 31 5.068595 0.93950 . . ENSG00000144893 ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432 T;T;T;T 0.62639 0.01;0.01;0.01;0.01 5.57 5.57 0.84162 Mediator complex, subunit Med12, LCEWAV-domain (1); 0.000000 0.85682 D 0.000000 D 0.83408 0.5248 M 0.88775 2.98 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;0.999;0.999 D 0.85845 0.1400 10 0.87932 D 0 -16.4504 19.5175 0.95170 0.0:0.0:1.0:0.0 . 485;625;625;625 F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3 .;MD12L_HUMAN;.;. E 625;625;625;485 ENSP00000403308:G625E;ENSP00000310760:G625E;ENSP00000417235:G625E;ENSP00000273432:G485E ENSP00000273432:G485E G + 2 0 MED12L 152391314 1.000000 0.71417 0.793000 0.32043 0.899000 0.52679 8.888000 0.92464 2.780000 0.95670 0.655000 0.94253 GGA TCGA-2L-AAQI-01A-12D-A397-08 MED12L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357707.2 1 0 1 29 221 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 1.000000 29 218 0 44 2 0 0 0 0 0 2 -3.318911 1 1 0 0 1 0 1 1 1.945308 0 0.290000 1.810000 0.241615 0.740000 5.100000e-01 1.000000 1.000000 0.756587 0.740000 0 0.620000 0.880000 FYCO1 79443 broad.mit.edu 37 3 46021250 46021250 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:46021250C>T ENST00000296137.2 - 4 440 c.235G>A c.(235-237)Gcc>Acc p.A79T FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 54 TTCACCTTGGCCAGGCAGGCA 0.517000 0 SO:0001583 missense ENST00000296137.2 0 1 hg19 CCDS2734.1 . . . . . . . . . . C 31 5.075950 0.94000 . . ENSG00000163820 ENST00000296137;ENST00000535325 T;T 0.30182 1.54;1.54 5.6 5.6 0.85130 RUN (2); 0.000000 0.85682 D 0.000000 T 0.53029 0.1771 L 0.53249 1.67 0.53005 D 0.99996 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.996 T 0.52675 -0.8544 10 0.87932 D 0 -20.7471 17.7942 0.88565 0.0:1.0:0.0:0.0 . 79;79 B7ZKT7;Q9BQS8 .;FYCO1_HUMAN T 79 ENSP00000296137:A79T;ENSP00000441178:A79T ENSP00000296137:A79T A - 1 0 FYCO1 45996254 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 4.591000 0.61019 2.641000 0.89580 0.585000 0.79938 GCC TCGA-2L-AAQI-01A-12D-A397-08 FYCO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257320.2 0 0 0 5 412 1 76 0 2.130269e-02 0 15 1 76 2 0 0 0 0 0 2 0 0.004414 5 408 1 75 18 0 0 0 0 0 2 -2.380019 0 1 0 0 1 0 1 1 1.937603 0 0.290000 1.810000 0.239259 0.080000 2.000000e-02 0.170000 0.080000 0.091470 0.080000 0 0.040000 0.130000 CACNA2D3 55799 broad.mit.edu 37 3 54604065 54604065 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr3:54604065C>T ENST00000474759.1 + 8 870 c.822C>T c.(820-822)atC>atT p.I274I CACNA2D3_ENST00000490478.1_Silent_p.I180I|CACNA2D3_ENST00000415676.2_Silent_p.I274I|CACNA2D3_ENST00000288197.5_Silent_p.I274I NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 59 Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421) GTCTGACTATCGCGAAGCAAA 0.463000 0 SO:0001819 synonymous_variant ENST00000474759.1 1 1 hg19 CCDS54598.1 TCGA-2L-AAQI-01A-12D-A397-08 CACNA2D3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351402.1 1 0 1 91 584 0 136 0 0 0 0 136 2 0 0 0 0 0 2 1 1.000000 90 578 0 133 2 0 0 0 0 0 2 -3.221886 1 1 120940 7 39 1 0 1 1 1.945308 0 0.290000 1.810000 0.241615 0.860000 7.000000e-01 1.000000 1.000000 0.870389 0.860000 1 0.780000 0.950000 DIAPH1 1729 broad.mit.edu 37 5 140908065 140908065 + Missense_Mutation SNP G G C TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:140908065G>C ENST00000398557.4 - 23 3243 c.3103C>G c.(3103-3105)Ctc>Gtc p.L1035V DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L1036V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V NM_005219.4 NP_005210.3 O60610 DIAP1_HUMAN diaphanous-related formin 1 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAACTTGAGGACATCGGGA 0.502000 0 SO:0001583 missense ENST00000398557.4 1 1 hg19 CCDS43374.1 . . . . . . . . . . G 15.51 2.855978 0.51376 . . ENSG00000131504 ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047 T;T;T;T;T;T;T;T 0.66638 -0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22 5.66 5.66 0.87406 Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3); 0.072630 0.56097 D 0.000032 T 0.64821 0.2633 M 0.67625 2.065 0.47183 D 0.999347 P;P;P 0.48503 0.911;0.604;0.604 B;B;B 0.40677 0.337;0.239;0.239 T 0.70927 -0.4739 10 0.72032 D 0.01 . 12.6178 0.56586 0.0798:0.0:0.9202:0.0 . 978;1026;1035 E7ERW8;E9PEZ2;O60610 .;.;DIAP1_HUMAN V 1032;978;1011;1026;1027;1035;1036;1023 ENSP00000373706:L1032V;ENSP00000429282:L978V;ENSP00000381570:L1011V;ENSP00000373709:L1026V;ENSP00000381572:L1027V;ENSP00000381565:L1035V;ENSP00000253811:L1036V;ENSP00000428268:L1023V ENSP00000253811:L1036V L - 1 0 DIAPH1 140888249 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 1.449000 0.35123 2.672000 0.90937 0.467000 0.42956 CTC TCGA-2L-AAQI-01A-12D-A397-08 DIAPH1-203 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding 1 0 1 36 216 0 56 1 1 89 161 0 56 2 0 0 0 0 0 2 1 1.000000 34 214 0 56 2 0 0 0 0 0 2 -3.080585 1 1 0 0 1 1 2 3 2.108194 0 0.290000 1.810000 0.300148 0.990000 7.200000e-01 1.000000 1.000000 0.948427 0.990000 1 0.860000 1.000000 NDST1 3340 broad.mit.edu 37 5 149907823 149907823 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:149907823G>A ENST00000261797.6 + 3 1473 c.971G>A c.(970-972)gGc>gAc p.G324D NDST1_ENST00000523767.1_Missense_Mutation_p.G324D NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTTCGTGGGCAAGGAGGGC 0.612000 0 SO:0001583 missense ENST00000261797.6 0 1 hg19 CCDS34277.1 . . . . . . . . . . G 28.9 4.956426 0.92726 . . ENSG00000070614 ENST00000523767;ENST00000261797 T;T 0.56103 0.48;0.75 5.04 5.04 0.67666 . 0.000000 0.85682 D 0.000000 T 0.79997 0.4543 M 0.92367 3.3 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.85347 0.1099 10 0.87932 D 0 . 18.7565 0.91835 0.0:0.0:1.0:0.0 . 324;324;324 E7EVJ3;P52848-2;P52848 .;.;NDST1_HUMAN D 324 ENSP00000428604:G324D;ENSP00000261797:G324D ENSP00000261797:G324D G + 2 0 NDST1 149888016 1.000000 0.71417 1.000000 0.80357 0.875000 0.50365 9.676000 0.98643 2.494000 0.84150 0.555000 0.69702 GGC TCGA-2L-AAQI-01A-12D-A397-08 NDST1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374314.2 0 0 0 5 346 0 77 0 1.535150e-01 0 40 0 77 2 0 0 0 0 0 2 1 0.936556 6 342 0 76 2 0 0 0 0 0 2 -3.238259 1 1 0 0 1 1 2 3 2.108194 0 0.290000 1.810000 0.300148 0.110000 3.000000e-02 1.000000 0.100000 0.189479 0.110000 0 0.060000 0.190000 ADAMTS12 81792 broad.mit.edu 37 5 33683131 33683131 + Nonsense_Mutation SNP C C A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr5:33683131C>A ENST00000504830.1 - 5 1242 c.907G>T c.(907-909)Gaa>Taa p.E303* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 216 ACCTCTTCTTCTTCGAGTAGA 0.428000 HNSCC(64;0.19) 0 SO:0001587 stop_gained ENST00000504830.1 0 1 hg19 CCDS34140.1 . . . . . . . . . . C 42 9.642714 0.99227 . . ENSG00000151388 ENST00000504830;ENST00000352040 . . . 5.56 5.56 0.83823 . 0.050809 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.30854 T 0.27 . 19.5316 0.95231 0.0:1.0:0.0:0.0 . . . . X 303 . ENSP00000344847:E303X E - 1 0 ADAMTS12 33718888 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 4.574000 0.60900 2.615000 0.88500 0.637000 0.83480 GAA TCGA-2L-AAQI-01A-12D-A397-08 ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367164.2 1 0 1 23 152 0 52 0 2.448155e-01 0 7 0 52 2 0 0 0 0 0 2 1 1.000000 23 150 0 52 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.801161 1 0.290000 1.810000 0.172398 0.750000 5.000000e-01 0.980000 0.760000 0.760823 0.750000 0 0.620000 0.890000 KDM1B 221656 broad.mit.edu 37 6 18171668 18171668 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:18171668C>T ENST00000297792.5 + 7 669 c.492C>T c.(490-492)gcC>gcT p.A164A KDM1B_ENST00000397244.1_Silent_p.A164A|KDM1B_ENST00000388870.2_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 25 CACAGATAGCCAAGACTTATC 0.363000 0 SO:0001819 synonymous_variant ENST00000297792.5 1 1 hg19 CCDS34343.1 TCGA-2L-AAQI-01A-12D-A397-08 KDM1B-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000277080.1 1 0 0 14 287 0 60 0 1.360359e-01 1 12 0 60 2 0 0 0 0 0 2 1 0.999773 14 287 0 60 2 0 0 0 0 0 2 -4.463510 1 1 121412 1 30 1 0 0 0 1.793805 1 0.290000 1.810000 0.183439 0.280000 1.600000e-01 0.440000 0.270000 0.292483 0.280000 0 0.210000 0.360000 RNF39 80352 broad.mit.edu 37 6 30043491 30043491 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:30043491C>T ENST00000244360.6 - 1 173 c.76G>A c.(76-78)Gca>Aca p.A26T RNF39_ENST00000376751.3_Missense_Mutation_p.A26T NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 TTAACTTTTGCCGCTTTCCGC 0.602000 NSCLC(8;188 360 1520 20207 31481) 0 SO:0001583 missense ENST00000244360.6 0 1 hg19 CCDS4673.1 . . . . . . . . . . c 17.05 3.290422 0.59976 . . ENSG00000204618 ENST00000376751;ENST00000244360;ENST00000376746 T;T 0.70749 -0.03;-0.51 3.51 0.223 0.15292 . . . . . T 0.23492 0.0568 N 0.08118 0 0.09310 N 1 B;B 0.10296 0.002;0.003 B;B 0.09377 0.002;0.004 T 0.17137 -1.0379 9 0.66056 D 0.02 . 2.3362 0.04248 0.1257:0.4139:0.293:0.1674 . 26;26 Q9H2S5;Q9H2S5-2 RNF39_HUMAN;. T 26 ENSP00000365942:A26T;ENSP00000244360:A26T ENSP00000244360:A26T A - 1 0 RNF39 30151470 0.000000 0.05858 0.000000 0.03702 0.834000 0.47266 -0.148000 0.10219 0.251000 0.21505 0.436000 0.28706 GCA TCGA-2L-AAQI-01A-12D-A397-08 RNF39-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076625.3 0 0 0 5 395 1 76 0 5.794897e-03 0 22 1 76 3 0 0 0 0 0 2 0 0.004537 5 393 1 76 18 0 0 0 0 0 2 -2.298958 0 1 0 0 1 0 0 0 1.966235 0 0.290000 1.810000 0.255453 0.080000 2.000000e-02 0.180000 0.080000 0.097446 0.080000 0 0.050000 0.130000 KHDRBS2 202559 broad.mit.edu 37 6 62887161 62887161 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr6:62887161G>A ENST00000281156.4 - 2 426 c.148C>T c.(148-150)Ctt>Ttt p.L50F NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 49 ATGACATCAAGATACTTCTTT 0.338000 0 SO:0001583 missense ENST00000281156.4 1 1 hg19 CCDS4963.1 . . . . . . . . . . G 21.6 4.174934 0.78564 . . ENSG00000112232 ENST00000281156;ENST00000539571 T 0.16324 2.35 5.25 5.25 0.73442 . 0.000000 0.85682 D 0.000000 T 0.16938 0.0407 L 0.56769 1.78 0.80722 D 1 P 0.52842 0.956 P 0.50754 0.649 T 0.00708 -1.1600 10 0.62326 D 0.03 -4.1269 11.3289 0.49465 0.0836:0.0:0.9164:0.0 . 50 Q5VWX1 KHDR2_HUMAN F 50 ENSP00000281156:L50F ENSP00000281156:L50F L - 1 0 KHDRBS2 62945120 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 6.320000 0.72876 2.447000 0.82792 0.460000 0.39030 CTT TCGA-2L-AAQI-01A-12D-A397-08 KHDRBS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041066.2 1 0 0 17 163 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 0.999972 17 163 0 29 2 0 0 0 0 0 2 -19.999940 1 1 0 0 1 0 0 0 1.804514 1 0.290000 1.810000 0.188850 0.560000 3.400000e-01 0.840000 0.560000 0.582659 0.560000 0 0.440000 0.710000 MOSPD3 64598 broad.mit.edu 37 7 100212491 100212491 + Splice_Site SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:100212491C>T ENST00000393950.2 + 4 795 c.513C>T c.(511-513)caC>caT p.H171H MOSPD3_ENST00000223054.4_Splice_Site_p.H171H|MOSPD3_ENST00000379527.2_Splice_Site_p.H171H|MOSPD3_ENST00000424091.2_Splice_Site_p.H161H NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTTTCTCAGACCCCCGCCAGC 0.577000 0 SO:0001630 splice_region_variant ENST00000393950.2 1 0 hg19 CCDS5701.1 TCGA-2L-AAQI-01A-12D-A397-08 MOSPD3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356395.1 0 0 1 27 191 0 37 1 9.997950e-01 19 78 0 37 2 0 0 0 0 0 2 1 1.000000 28 189 0 35 2 0 0 0 0 0 2 -13.122940 1 1 0 0 1 1 2 3 2.088405 0 0.290000 1.810000 0.297134 0.870000 5.900000e-01 1.000000 1.000000 0.864698 0.870000 1 0.720000 1.000000 SLC13A1 6561 broad.mit.edu 37 7 122821122 122821122 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:122821122C>T ENST00000194130.2 - 2 172 c.133G>A c.(133-135)Gcc>Acc p.A45T SLC13A1_ENST00000539873.1_5'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 45 Succinic acid(DB00139) CAAAATGTGGCGACCACAAAG 0.428000 0 SO:0001583 missense ENST00000194130.2 0 1 hg19 CCDS5786.1 2 9.157509157509158E-4 1 0.0020325203252032522 1 0.0027624309392265192 0 0.0 0 0.0 C 21.0 4.089751 0.76756 . . ENSG00000081800 ENST00000194130 T 0.03212 4.01 6.16 6.16 0.99307 . 0.047300 0.85682 D 0.000000 T 0.25344 0.0616 M 0.92169 3.28 0.80722 D 1 D 0.76494 0.999 P 0.61658 0.892 T 0.02226 -1.1192 10 0.59425 D 0.04 . 19.848 0.96722 0.0:1.0:0.0:0.0 . 45 Q9BZW2 S13A1_HUMAN T 45 ENSP00000194130:A45T ENSP00000194130:A45T A - 1 0 SLC13A1 122608358 1.000000 0.71417 0.094000 0.20943 0.191000 0.23601 7.258000 0.78371 2.937000 0.99478 0.650000 0.86243 GCC TCGA-2L-AAQI-01A-12D-A397-08 SLC13A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347404.1 0 0 0 4 196 1 30 0 0 0 1 30 2 0 0 0 0 0 2 0 0.000534 4 196 1 30 20 0 0 0 0 0 2 -3.140462 1 1 121406 66 48 1 1 2 3 2.088405 0 0.290000 1.810000 0.297134 0.160000 5.000000e-02 1.000000 0.140000 0.216659 0.160000 0 0.090000 0.270000 DGKI 9162 broad.mit.edu 37 7 137148251 137148251 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:137148251G>A ENST00000288490.5 - 28 2743 c.2743C>T c.(2743-2745)Cac>Tac p.H915Y DGKI_ENST00000424189.2_Missense_Mutation_p.H928Y|DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y|DGKI_ENST00000453654.2_Intron NM_004717.2 NP_004708.1 O75912 DGKI_HUMAN diacylglycerol kinase, iota 84 ACGCGGGAGTGGCTGAGATCT 0.537000 0 SO:0001583 missense ENST00000288490.5 1 1 hg19 CCDS5845.1 . . . . . . . . . . G 14.71 2.617440 0.46736 . . ENSG00000157680 ENST00000424189;ENST00000288490;ENST00000446122 T;T 0.34472 1.36;1.56 5.91 5.91 0.95273 . 1.734970 0.02527 N 0.093160 T 0.28300 0.0699 N 0.08118 0 0.42635 D 0.993395 B 0.27882 0.192 B 0.19666 0.026 T 0.07635 -1.0762 10 0.23302 T 0.38 . 18.4769 0.90797 0.0:0.0:1.0:0.0 . 915 O75912 DGKI_HUMAN Y 918;915;897 ENSP00000288490:H915Y;ENSP00000399131:H897Y ENSP00000288490:H915Y H - 1 0 DGKI 136798791 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 4.461000 0.60115 2.813000 0.96785 0.655000 0.94253 CAC TCGA-2L-AAQI-01A-12D-A397-08 DGKI-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000341286.3 0 0 1 46 226 0 47 0 0 0 1 0 47 2 0 0 0 0 0 2 1 1.000000 46 226 0 46 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.088405 0 0.290000 1.810000 0.297134 0.990000 8.900000e-01 1.000000 1.000000 0.992536 0.990000 1 0.990000 1.000000 POM121L12 285877 broad.mit.edu 37 7 53103442 53103442 + Silent SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr7:53103442C>T ENST00000408890.4 + 1 94 c.78C>T c.(76-78)ccC>ccT p.P26P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 61 TGCAAGGCCCCGACGCCCTGG 0.706000 0 SO:0001819 synonymous_variant ENST00000408890.4 1 1 hg19 CCDS43584.1 TCGA-2L-AAQI-01A-12D-A397-08 POM121L12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342656.1 1 0 1 20 118 0 24 0 0 0 0 24 2 0 0 0 0 0 2 1 0.999996 19 116 0 23 2 0 0 0 0 0 2 -20.000000 1 1 120836 3 32 1 1 2 3 2.087798 0 0.290000 1.810000 0.297134 0.990000 6.500000e-01 1.000000 1.000000 0.935408 0.990000 1 0.820000 1.000000 RP1L1 94137 broad.mit.edu 37 8 10470671 10470671 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:10470671C>T ENST00000382483.3 - 4 1160 c.937G>A c.(937-939)Gtc>Atc p.V313I NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 148 TTCATGCGGACCTTCTTCTTC 0.657000 0 SO:0001583 missense ENST00000382483.3 1 1 hg19 CCDS43708.1 . . . . . . . . . . C 25.2 4.611972 0.87258 . . ENSG00000183638 ENST00000382483 T 0.08008 3.14 4.82 3.95 0.45737 . 0.000000 0.30611 U 0.009248 T 0.16599 0.0399 L 0.28504 0.86 0.38893 D 0.957152 D 0.76494 0.999 D 0.78314 0.991 T 0.03453 -1.1035 10 0.44086 T 0.13 -19.7106 12.3052 0.54898 0.0:0.9179:0.0:0.0821 . 313 A6NKC6 . I 313 ENSP00000371923:V313I ENSP00000371923:V313I V - 1 0 RP1L1 10508081 1.000000 0.71417 0.907000 0.35723 0.945000 0.59286 3.069000 0.50026 1.254000 0.44035 0.591000 0.81541 GTC TCGA-2L-AAQI-01A-12D-A397-08 RP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375673.1 0 0 1 80 472 0 145 0 0 0 0 145 2 0 0 0 0 0 2 1 1.000000 80 467 0 144 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.834669 1 0.290000 1.810000 0.176573 0.850000 6.900000e-01 1.000000 1.000000 0.856498 0.850000 1 0.760000 0.940000 COL22A1 169044 broad.mit.edu 37 8 139890170 139890170 + Missense_Mutation SNP C C T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:139890170C>T ENST00000303045.6 - 3 927 c.481G>A c.(481-483)Gcc>Acc p.A161T COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCGCCGCGGCGTCCAGCACC 0.716000 HNSCC(7;0.00092) 0 SO:0001583 missense ENST00000303045.6 0 1 hg19 CCDS6376.1 . . . . . . . . . . C 19.66 3.868949 0.72065 . . ENSG00000169436 ENST00000303045;ENST00000435777;ENST00000545577 T;T 0.80214 -1.35;-1.35 5.3 5.3 0.74995 von Willebrand factor, type A (3); 0.283582 0.24727 N 0.036088 D 0.86863 0.6035 M 0.79693 2.465 0.26563 N 0.973692 D 0.67145 0.996 P 0.55965 0.788 T 0.82043 -0.0653 9 . . . . 13.0527 0.58964 0.0:0.727:0.273:0.0 . 161 Q8NFW1 COMA1_HUMAN T 161 ENSP00000303153:A161T;ENSP00000387655:A161T . A - 1 0 COL22A1 139959352 0.996000 0.38824 0.927000 0.36925 0.876000 0.50452 2.403000 0.44530 2.446000 0.82766 0.655000 0.94253 GCC TCGA-2L-AAQI-01A-12D-A397-08 COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000315905.2 1 0 0 11 72 0 13 0 0 0 1 0 13 2 0 0 0 0 0 2 1 0.998720 11 72 0 12 2 0 0 0 0 0 2 -19.199840 1 1 0 0 1 0 1 1 2.050710 0 0.290000 1.810000 0.287935 0.910000 5.000000e-01 1.000000 1.000000 0.867553 0.910000 1 0.680000 1.000000 OPLAH 26873 broad.mit.edu 37 8 145109606 145109606 + Silent SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr8:145109606G>A ENST00000426825.1 - 19 2625 c.2544C>T c.(2542-2544)ttC>ttT p.F848F OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCCACATAGAACACAGGCC 0.667000 0 SO:0001819 synonymous_variant ENST00000426825.1 0 1 hg19 TCGA-2L-AAQI-01A-12D-A397-08 OPLAH-201 KNOWN basic|appris_principal protein_coding protein_coding 1 0 0 29 203 0 63 1 8.745939e-01 9 19 0 63 2 0 0 0 0 0 2 1 1.000000 29 199 0 61 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 2.050710 0 0.290000 1.810000 0.287935 0.850000 5.900000e-01 1.000000 1.000000 0.854686 0.850000 1 0.710000 1.000000 OR1L4 254973 broad.mit.edu 37 9 125486817 125486817 + Missense_Mutation SNP G G T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:125486817G>T ENST00000259466.1 + 1 549 c.549G>T c.(547-549)caG>caT p.Q183H NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 20 GTGACACCCAGCCTGTGCTAA 0.512000 0 SO:0001583 missense ENST00000259466.1 0 1 hg19 CCDS35129.1 . . . . . . . . . . . 4.362 0.066629 0.08388 . . ENSG00000136939 ENST00000259466 T 0.00107 8.72 4.01 1.57 0.23409 GPCR, rhodopsin-like superfamily (1); 0.301605 0.24571 N 0.037392 T 0.00073 0.0002 N 0.02685 -0.53 0.29480 N 0.856427 B 0.16802 0.019 B 0.19666 0.026 T 0.03957 -1.0989 10 0.52906 T 0.07 -5.0755 6.7183 0.23316 0.4843:0.0:0.5157:0.0 . 183 Q8NGR5 OR1L4_HUMAN H 183 ENSP00000259466:Q183H ENSP00000259466:Q183H Q + 3 2 OR1L4 124526638 0.000000 0.05858 1.000000 0.80357 0.932000 0.56968 -2.347000 0.01095 0.279000 0.22186 0.298000 0.19748 CAG TCGA-2L-AAQI-01A-12D-A397-08 OR1L4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053951.1 0 0 0 7 841 0 226 0 0 0 0 226 2 0 0 0 0 0 2 1 0.969928 7 740 0 303 2 0 0 0 0 0 2 -3.016504 1 1 0 0 1 0 1 1 1.786389 1 0.290000 1.810000 0.169591 0.040000 1.000000e-02 0.100000 0.050000 0.055168 0.040000 0 0.030000 0.070000 SLC34A3 142680 broad.mit.edu 37 9 140130438 140130438 + Missense_Mutation SNP G G A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chr9:140130438G>A ENST00000538474.1 + 13 1594 c.1370G>A c.(1369-1371)gGc>gAc p.G457D SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) AACCTGGCCGGCATCCTGCTG 0.711000 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000538474.1 0 1 hg19 CCDS7038.1 . . . . . . . . . . G 19.82 3.898756 0.72639 . . ENSG00000198569 ENST00000538474;ENST00000361134 D;D 0.92858 -3.12;-3.12 4.11 4.11 0.48088 . 0.101834 0.41097 D 0.000960 D 0.96706 0.8925 M 0.92412 3.305 0.51482 D 0.999923 D 0.89917 1.0 D 0.83275 0.996 D 0.97453 1.0029 10 0.87932 D 0 -19.2077 14.2126 0.65773 0.0:0.0:1.0:0.0 . 457 Q8N130 NPT2C_HUMAN D 457 ENSP00000442397:G457D;ENSP00000355353:G457D ENSP00000355353:G457D G + 2 0 SLC34A3 139250259 1.000000 0.71417 0.991000 0.47740 0.656000 0.38851 7.332000 0.79203 2.304000 0.77564 0.407000 0.27541 GGC TCGA-2L-AAQI-01A-12D-A397-08 SLC34A3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254712.1 0 0 0 5 489 0 105 0 0 0 1 0 105 2 0 0 0 0 0 2 1 0.934066 5 478 0 101 2 0 0 0 0 0 2 -2.174522 0 1 0 0 1 0 1 1 1.786389 1 0.290000 1.810000 0.169591 0.060000 2.000000e-02 0.130000 0.060000 0.070616 0.060000 0 0.030000 0.100000 KDM6A 7403 broad.mit.edu 37 X 44879977 44879977 + Splice_Site SNP T T A TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 T A T T Valid Somatic Phase_I WXS targeted Illumina GAIIx bc207a75-c45b-4259-9ab1-568b3669cba7 37e90c67-83cb-401d-aca4-4500866ffa52 g.chrX:44879977T>A ENST00000377967.4 + 6 605 c.e6+2 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A p.0(12)|p.0?(6)|p.?(1) 170 AGTTTAAAGGTAGGTTGTTGG 0.318000 D, N, F, S renal, oesophageal SCC, MM Colon(129;1273 1667 15230 27352 52914) Rec yes X Xp11.2 7403 lysine (K)-specific demethylase 6A, UTX E, L 19 No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1) SO:0001630 splice_region_variant ENST00000377967.4 1 1 hg19 CCDS14265.1 . . . . . . . . . . T 21.4 4.145474 0.77888 . . ENSG00000147050 ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299 . . . 5.58 5.58 0.84498 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.9212 0.70838 0.0:0.0:0.0:1.0 . . . . . -1 . . . + . . KDM6A 44764921 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.392000 0.66272 1.973000 0.57446 0.486000 0.48141 . TCGA-2L-AAQI-01A-12D-A397-08 KDM6A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056324.1 1 0 1 85 281 0 78 0 0 0 0 78 2 1 1 33 118 0 68 2 1 1.000000 84 278 0 78 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 0.290000 1.810000 0.290000 0.790000 6.500000e-01 0.940000 0.800000 0.799209 0.790000 0 0.710000 0.870000