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 PRDM16 63976 broad.mit.edu 37 1 3334494 3334495 + Frame_Shift_Ins INS - - TC TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:3334494_3334495insTC ENST00000270722.5 + 11 2843_2844 c.2794_2795insTC c.(2794-2796)ttcfs p.F932fs PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs Q9HAZ2 PRD16_HUMAN PR domain containing 16 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) CCCCTTCAACTTCCGGTCCCCA 0.639000 T EVI1 MDS, AML Dom yes 1 1p36.23-p33 63976 PR domain containing 16 L 0 SO:0001589 frameshift_variant ENST00000270722.5 0 1 hg19 CCDS41236.2 TCGA-XD-AAUL-01A-21D-A397-08 PRDM16-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000001382.3 1 0 0 45 332 0 102 0 7.566860e-02 0 4 0 102 2 0 0 0 0 0 0 1 1.000000 48 329 0 96 2 0 0 0 0 0 0 -6.771934 1 1 0 0 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.700000 5.200000e-01 0.940000 0.710000 0.715416 0.700000 0 0.610000 0.810000 MUTYH 4595 broad.mit.edu 37 1 45796949 45796949 + Frame_Shift_Del DEL C C - TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C - C C Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:45796949delC ENST00000372098.3 - 14 1505 c.1372delG c.(1372-1374)gaafs p.E458fs MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.E461fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs Q9UIF7 MUTYH_HUMAN mutY homolog 19 Acute lymphoblastic leukemia(166;0.155) GTCTGCCCTTCCAAGGCCAGC 0.542000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis yes Rec Adenomatous polyposis coli 1 1p34.3-1p32.1 4595 mutY homolog (E. coli) E 0 SO:0001589 frameshift_variant Familial Cancer Database MAP, MYH-associated polyposis ENST00000372098.3 1 1 hg19 CCDS520.1 TCGA-XD-AAUL-01A-21D-A397-08 MUTYH-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000020529.1 1 0 0 60 318 0 77 1 9.965906e-01 3 45 0 77 2 0 0 0 0 0 0 1 1.000000 67 316 1 76 17 0 0 0 0 0 0 -2.976461 1 1 0 0 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.930000 7.300000e-01 1.000000 1.000000 0.921583 0.930000 1 0.820000 1.000000 ADAM12 8038 broad.mit.edu 37 10 127755358 127755358 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:127755358G>A ENST00000368679.4 - 13 1659 c.1350C>T c.(1348-1350)tgC>tgT p.C450C ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) TGGCATTGCAGCAGCGATTCA 0.522000 0 SO:0001819 synonymous_variant ENST00000368679.4 0 1 hg19 CCDS7653.1 TCGA-XD-AAUL-01A-21D-A397-08 ADAM12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050961.1 0 0 0 5 201 0 59 0 1.972939e-01 1 27 0 59 2 0 0 0 0 0 2 1 0.938304 5 201 0 57 2 0 0 0 0 0 2 -6.537760 1 1 121412 1 28 1 1 2 3 2.042892 0 0.340000 1.880000 0.341120 0.150000 5.000000e-02 0.320000 0.140000 0.168386 0.150000 0 0.090000 0.230000 DOCK1 1793 broad.mit.edu 37 10 129213435 129213435 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:129213435C>T ENST00000280333.6 + 44 4494 c.4385C>T c.(4384-4386)aCc>aTc p.T1462I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) ATCGAGAGAACCATATATACA 0.448000 0 SO:0001583 missense ENST00000280333.6 1 1 hg19 . . . . . . . . . . C 19.47 3.833993 0.71373 . . ENSG00000150760 ENST00000280333 T 0.23348 1.91 5.05 5.05 0.67936 . 0.000000 0.85682 D 0.000000 T 0.61652 0.2364 M 0.91140 3.18 0.80722 D 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.85130 0.98;0.988;0.997 T 0.71318 -0.4629 10 0.87932 D 0 . 18.6123 0.91290 0.0:1.0:0.0:0.0 . 1462;1528;1462 B2RUU3;A8MU08;Q14185 .;.;DOCK1_HUMAN I 1462 ENSP00000280333:T1462I ENSP00000280333:T1462I T + 2 0 DOCK1 129103425 1.000000 0.71417 0.336000 0.25522 0.625000 0.37756 7.604000 0.82830 2.634000 0.89283 0.650000 0.86243 ACC TCGA-XD-AAUL-01A-21D-A397-08 DOCK1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000050979.2 1 0 1 19 137 0 33 1 9.950280e-01 23 42 0 33 2 0 0 0 0 0 2 1 0.999993 19 135 0 33 2 0 0 0 0 0 2 -10.412170 1 1 0 0 1 1 2 3 2.042892 0 0.340000 1.880000 0.341120 0.720000 4.500000e-01 1.000000 1.000000 0.732582 0.720000 0 0.570000 0.890000 LRRC27 80313 broad.mit.edu 37 10 134165170 134165170 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:134165170C>T ENST00000368614.3 + 7 1091 c.986C>T c.(985-987)gCg>gTg p.A329V LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V NM_030626.2 NP_085129.1 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) TACCAAATGGCGATCCGAGCA 0.522000 0 SO:0001583 missense ENST00000368614.3 0 1 hg19 CCDS31316.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 23.8|23.8 4.464280|4.464280 0.84425|0.84425 .|. .|. ENSG00000148814|ENSG00000148814 ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079 T;T;T;T;T;T|. 0.42513|. 2.69;2.59;2.59;4.35;4.35;0.97|. 4.25|4.25 -8.49|-8.49 0.00931|0.00931 .|. 4.873430|. 0.00508|. N|. 0.000163|. T|. 0.09423|. 0.0232|. .|. .|. .|. 0.09310|0.09310 N|N 1|1 B;B;B;B|. 0.28470|. 0.048;0.093;0.213;0.136|. B;B;B;B|. 0.25405|. 0.024;0.044;0.06;0.016|. T|. 0.10451|. -1.0629|. 9|. 0.05436|0.02654 T|T 0.98|1 -0.0569|-0.0569 3.4252|3.4252 0.07408|0.07408 0.1986:0.4722:0.1832:0.146|0.1986:0.4722:0.1832:0.146 .|. 329;202;267;329|. Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|. .;.;.;LRC27_HUMAN|. V|X 329;329;329;267;267;202|361 ENSP00000357604:A329V;ENSP00000357603:A329V;ENSP00000357602:A329V;ENSP00000357601:A267V;ENSP00000357599:A267V;ENSP00000407949:A202V|. ENSP00000357599:A267V|ENSP00000342641:R361X A|R +|+ 2|1 0|2 LRRC27|LRRC27 134015160|134015160 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -3.914000|-3.914000 0.00335|0.00335 -3.621000|-3.621000 0.00131|0.00131 -1.080000|-1.080000 0.02220|0.02220 GCG|CGA TCGA-XD-AAUL-01A-21D-A397-08 LRRC27-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000051058.2 0 0 0 6 928 0 269 0 1.911051e-02 0 27 0 269 2 0 0 0 0 0 2 1 0.964431 6 923 0 266 2 0 0 0 0 0 2 -2.044663 0 1 121412 3 39 1 1 2 3 2.042892 0 0.340000 1.880000 0.341120 0.030000 0 0.080000 0.040000 0.043807 0.030000 0 0.020000 0.060000 PLCE1 51196 broad.mit.edu 37 10 96018889 96018889 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr10:96018889G>A ENST00000371380.3 + 12 4031 c.3796G>A c.(3796-3798)Gat>Aat p.D1266N PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 8 Colorectal(252;0.0458) AAACACCAGCGATCTTCAGCC 0.468000 0 SO:0001583 missense ENST00000371380.3 1 1 hg19 CCDS41552.1 . . . . . . . . . . G 16.41 3.114130 0.56398 . . ENSG00000138193 ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375 T;T;T;T 0.24908 1.83;1.83;1.83;1.83 5.91 4.07 0.47477 . 0.307693 0.34725 N 0.003735 T 0.14874 0.0359 N 0.19112 0.55 0.36609 D 0.875091 P;P;B 0.40931 0.614;0.733;0.103 B;B;B 0.36766 0.08;0.232;0.032 T 0.13388 -1.0511 10 0.17369 T 0.5 . 12.3034 0.54887 0.1361:0.0:0.8639:0.0 . 1250;958;1266 B7ZM61;Q9P212-2;Q9P212 .;.;PLCE1_HUMAN N 1266;1266;958;958 ENSP00000260766:D1266N;ENSP00000360431:D1266N;ENSP00000360438:D958N;ENSP00000360426:D958N ENSP00000260766:D1266N D + 1 0 PLCE1 96008879 1.000000 0.71417 0.016000 0.15963 0.889000 0.51656 6.412000 0.73303 0.843000 0.35070 0.555000 0.69702 GAT TCGA-XD-AAUL-01A-21D-A397-08 PLCE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000049469.3 1 0 1 85 470 0 139 0 1.735837e-01 0 5 0 139 2 0 0 0 0 0 2 1 1.000000 86 466 0 139 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.043197 0 0.340000 1.880000 0.341120 0.890000 7.300000e-01 1.000000 1.000000 0.899049 0.890000 1 0.810000 1.000000 CPT1A 1374 broad.mit.edu 37 11 68562300 68562300 + Missense_Mutation SNP C C T rs144866081 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:68562300C>T ENST00000265641.5 - 8 1005 c.851G>A c.(850-852)cGc>cAc p.R284H CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074) GTCCAGTTTGCGCCTGTAAAG 0.433000 0 SO:0001583 missense ENST00000265641.5 0 1 hg19 CCDS8185.1 . . . . . . . . . . C 9.445 1.089129 0.20390 0.0 2.33E-4 ENSG00000110090 ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743 D;D;D;D 0.89681 -2.55;-2.55;-2.55;-2.55 5.15 0.0249 0.14143 . 0.225561 0.41500 N 0.000876 D 0.84361 0.5455 L 0.60067 1.865 0.52501 D 0.999954 B;B;B 0.28933 0.03;0.037;0.228 B;B;B 0.28638 0.052;0.052;0.092 T 0.77983 -0.2382 10 0.44086 T 0.13 . 10.8556 0.46798 0.0:0.6036:0.0:0.3964 . 284;284;284 B2RAQ8;P50416;P50416-2 .;CPT1A_HUMAN;. H 284 ENSP00000439084:R284H;ENSP00000365803:R284H;ENSP00000265641:R284H;ENSP00000446108:R284H ENSP00000265641:R284H R - 2 0 CPT1A 68318876 0.244000 0.23889 0.012000 0.15200 0.140000 0.21249 0.769000 0.26604 0.201000 0.20466 0.655000 0.94253 CGC TCGA-XD-AAUL-01A-21D-A397-08 CPT1A-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397457.2 0 0 0 6 400 0 113 0 2.802167e-01 0 61 0 113 2 0 0 0 0 0 2 1 0.964981 6 399 0 111 2 0 0 0 0 0 2 -2.163751 0 1 121412 23 46 1 1 2 3 2.043682 0 0.340000 1.880000 0.341120 0.090000 3.000000e-02 0.190000 0.080000 0.100621 0.090000 0 0.050000 0.140000 ARHGEF17 9828 broad.mit.edu 37 11 73067381 73067381 + Silent SNP C C T rs113094822 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr11:73067381C>T ENST00000263674.3 + 6 4175 c.3825C>T c.(3823-3825)atC>atT p.I1275I AP002761.1_ENST00000582555.1_RNA NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 32 AGGCTCACATCGAGGGCATGG 0.647000 0 SO:0001819 synonymous_variant ENST00000263674.3 1 1 hg19 CCDS8221.1 TCGA-XD-AAUL-01A-21D-A397-08 ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 1 0 1 20 99 0 40 1 9.999588e-01 3 87 0 40 2 0 0 0 0 0 2 1 0.999997 19 99 0 40 2 0 0 0 0 0 2 -20.000000 1 1 121372 1 35 1 1 2 3 2.043682 0 0.340000 1.880000 0.341120 0.990000 6.400000e-01 1.000000 1.000000 0.924078 0.990000 1 0.800000 1.000000 TRPV4 59341 broad.mit.edu 37 12 110234507 110234507 + Silent SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:110234507G>T ENST00000418703.2 - 6 1249 c.1155C>A c.(1153-1155)atC>atA p.I385I TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.I385I NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 35 TGTGCTGAAAGATCTGCACAG 0.612000 0 SO:0001819 synonymous_variant ENST00000418703.2 0 1 hg19 CCDS9134.1 TCGA-XD-AAUL-01A-21D-A397-08 TRPV4-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403270.1 0 0 0 11 263 0 69 1 5.454876e-01 2 41 0 69 2 0 0 0 0 0 2 1 0.998395 11 262 0 69 2 0 0 0 0 0 2 -12.879340 1 1 0 0 1 0 0 0 2.010784 0 0.340000 1.880000 0.328586 0.230000 1.200000e-01 0.390000 0.230000 0.249539 0.230000 0 0.170000 0.320000 ATP2A2 488 broad.mit.edu 37 12 110783101 110783101 + Silent SNP G G C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:110783101G>C ENST00000539276.2 + 18 2764 c.2655G>C c.(2653-2655)gtG>gtC p.V885V ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 38 TTGAAGGCGTGGATTGTGCAA 0.443000 0 SO:0001819 synonymous_variant ENST00000539276.2 0 1 hg19 CCDS9144.1 . . . . . . . . . . G 9.975 1.226552 0.22542 . . ENSG00000174437 ENST00000548169 . . . 5.49 2.35 0.29111 . . . . . T 0.46502 0.1396 . . . 0.80722 D 1 . . . . . . T 0.31724 -0.9933 4 . . . . 3.8067 0.08780 0.1464:0.1051:0.5553:0.1932 . . . . R 776 . . G + 1 0 ATP2A2 109267484 0.995000 0.38212 1.000000 0.80357 0.979000 0.70002 0.226000 0.17776 0.730000 0.32425 -0.345000 0.07892 GGA TCGA-XD-AAUL-01A-21D-A397-08 ATP2A2-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000403539.1 0 0 0 6 682 0 192 1 9.102100e-01 4 487 0 192 2 0 0 0 0 0 2 1 0.963625 4 675 0 190 2 0 0 0 0 0 2 -2.238275 0 0 0 0 1 0 0 0 2.010784 0 0.340000 1.880000 0.328586 0.050000 1.000000e-02 0.110000 0.050000 0.058514 0.050000 0 0.030000 0.080000 SDS 10993 broad.mit.edu 37 12 113831803 113831803 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:113831803G>A ENST00000257549.4 - 7 794 c.672C>T c.(670-672)ggC>ggT p.G224G NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 11 L-Serine(DB00133) CAGTCTTCACGCCCAGGGCCT 0.577000 0 SO:0001819 synonymous_variant ENST00000257549.4 1 1 hg19 CCDS9169.1 TCGA-XD-AAUL-01A-21D-A397-08 SDS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404790.1 1 0 1 37 170 0 51 0 9.841895e-01 0 33 0 51 2 0 0 0 0 0 2 1 1.000000 37 169 0 51 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.010784 0 0.340000 1.880000 0.328586 0.990000 7.500000e-01 1.000000 1.000000 0.958183 0.990000 1 0.880000 1.000000 RNF34 80196 broad.mit.edu 37 12 121855430 121855430 + Nonsense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:121855430C>T ENST00000392464.2 + 3 418 c.349C>T c.(349-351)Cga>Tga p.R117* RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117* ring finger protein 34, E3 ubiquitin protein ligase p.R118*(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCAGTTAATGCGACTGAAGGT 0.428000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000392464.2 0 1 hg19 . . . . . . . . . . C 22.5 4.302047 0.81136 . . ENSG00000170633 ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795 . . . 5.87 1.75 0.24633 . 0.108690 0.64402 D 0.000013 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.07813 T 0.8 -11.5701 16.5911 0.84765 0.5926:0.4074:0.0:0.0 . . . . X 117;118;110;117;118 . ENSP00000346850:R118X R + 1 2 RNF34 120339813 0.997000 0.39634 0.999000 0.59377 0.982000 0.71751 0.562000 0.23531 0.468000 0.27243 -0.152000 0.13540 CGA TCGA-XD-AAUL-01A-21D-A397-08 RNF34-005 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000413892.1 0 0 0 5 590 0 153 0 1.617830e-01 0 70 0 153 2 0 0 0 0 0 2 1 0.937777 5 590 0 151 2 0 0 0 0 0 2 -2.177290 0 1 0 0 1 0 0 0 2.010784 0 0.340000 1.880000 0.328586 0.040000 1.000000e-02 0.110000 0.050000 0.057881 0.040000 0 0.020000 0.080000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 28.6 4.930538 0.92389 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.80722 D 1 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-XD-AAUL-01A-21D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 34 271 0 99 1 6.988829e-01 8 13 0 99 2 1 1 56 356 0 339 2 1 1.000000 34 271 0 98 2 1 1 1365 6666 1 8016 17 -13.885680 1 1 0 0 1 0 0 0 2.011841 0 0.340000 1.880000 0.328586 0.640000 4.500000e-01 0.850000 0.640000 0.654766 0.640000 0 0.540000 0.750000 KRT76 51350 broad.mit.edu 37 12 53165942 53165942 + Missense_Mutation SNP C C T rs61730598 byFrequency TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:53165942C>T ENST00000332411.2 - 5 1126 c.1073G>A c.(1072-1074)cGc>cAc p.R358H NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 p.R358H(1) 27 ATACTGGGCGCGGACCTCGGC 0.587000 1 Substitution - Missense(1) SO:0001583 missense ENST00000332411.2 0 1 hg19 CCDS8838.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 12.82 2.053838 0.36277 0.002951 0.0 ENSG00000185069 ENST00000332411 D 0.93307 -3.2 4.42 -2.3 0.06785 Filament (1); 0.734040 0.11408 N 0.567073 D 0.96494 0.8856 M 0.90814 3.15 0.09310 N 1 D 0.76494 0.999 D 0.75020 0.985 D 0.91683 0.5360 10 0.87932 D 0 . 11.445 0.50118 0.0:0.3928:0.0:0.6072 . 358 Q01546 K22O_HUMAN H 358 ENSP00000330101:R358H ENSP00000330101:R358H R - 2 0 KRT76 51452209 0.000000 0.05858 0.000000 0.03702 0.166000 0.22503 0.434000 0.21494 -0.489000 0.06716 0.462000 0.41574 CGC TCGA-XD-AAUL-01A-21D-A397-08 KRT76-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405928.1 0 0 0 4 179 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 0.888693 4 177 0 46 2 0 0 0 0 0 2 -2.732006 1 1 121410 48 49 1 0 0 0 2.011841 0 0.340000 1.880000 0.328586 0.130000 4.000000e-02 0.300000 0.130000 0.154540 0.130000 0 0.080000 0.220000 LRRIQ1 84125 broad.mit.edu 37 12 85623348 85623348 + Missense_Mutation SNP C C T rs1395676 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr12:85623348C>T ENST00000393217.2 + 25 4937 c.4876C>T c.(4876-4878)Cgg>Tgg p.R1626W LRRIQ1_ENST00000528777.3_3'UTR NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 p.R1626W(1) 83 AAAATTAGAACGGAATAGAGA 0.358000 1 Substitution - Missense(1) SO:0001583 missense ENST00000393217.2 1 0 hg19 CCDS41816.1 . . . . . . . . . . C 3.815 -0.038929 0.07497 . . ENSG00000133640 ENST00000393217 T 0.55052 0.54 5.3 -0.326 0.12698 . . . . . T 0.32675 0.0837 N 0.24115 0.695 0.09310 N 0.999994 B 0.33777 0.425 B 0.24269 0.052 T 0.15521 -1.0434 9 0.87932 D 0 . 8.6648 0.34114 0.4479:0.4346:0.0:0.1174 . 1626 Q96JM4 LRIQ1_HUMAN W 1626 ENSP00000376910:R1626W ENSP00000376910:R1626W R + 1 2 LRRIQ1 84147479 0.998000 0.40836 0.452000 0.26994 0.279000 0.26890 0.865000 0.27940 0.065000 0.16485 -0.272000 0.10252 CGG TCGA-XD-AAUL-01A-21D-A397-08 LRRIQ1-004 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000388249.2 1 0 1 98 397 0 116 0 3.983871e-02 1 1 0 116 2 0 0 0 0 0 2 1 1.000000 98 397 0 116 2 0 0 0 0 0 2 -2.306346 0 1 120792 733 62 1 0 0 0 2.010784 0 0.340000 1.880000 0.328586 0.990000 9.400000e-01 1.000000 1.000000 0.996901 0.990000 1 0.990000 1.000000 PCDH17 27253 broad.mit.edu 37 13 58299162 58299162 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr13:58299162T>G ENST00000377918.3 + 4 3240 c.3214T>G c.(3214-3216)Ttg>Gtg p.L1072V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 p.L1072V(2)|p.L1072L(1) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) CAGTCAGTACTTGCCCACTGA 0.532000 Melanoma(72;952 1291 1619 12849 33676) 3 Substitution - Missense(2)|Substitution - coding silent(1) SO:0001583 missense ENST00000377918.3 0 1 hg19 CCDS31986.1 . . . . . . . . . . T 6.250 0.414235 0.11870 . . ENSG00000118946 ENST00000377918 T 0.50813 0.73 5.96 1.04 0.20106 . 0.144833 0.46758 D 0.000262 T 0.26521 0.0648 N 0.22421 0.69 0.31959 N 0.608665 B 0.20261 0.043 B 0.16722 0.016 T 0.15867 -1.0422 9 . . . . 5.7106 0.17933 0.1369:0.428:0.0:0.4351 . 1072 O14917 PCD17_HUMAN V 1072 ENSP00000367151:L1072V . L + 1 2 PCDH17 57197163 0.998000 0.40836 0.999000 0.59377 0.998000 0.95712 0.380000 0.20602 0.182000 0.20032 0.533000 0.62120 TTG TCGA-XD-AAUL-01A-21D-A397-08 PCDH17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045139.1 0 0 0 6 389 0 79 0 1.148881e-02 0 9 0 79 2 0 0 0 0 0 2 1 0.964426 6 386 0 78 2 0 0 0 0 0 2 -6.219507 1 1 0 0 1 1 2 3 2.051192 0 0.340000 1.880000 0.342236 0.090000 3.000000e-02 0.210000 0.090000 0.112349 0.090000 0 0.060000 0.140000 SLC8A3 6547 broad.mit.edu 37 14 70634978 70634978 + Nonsense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr14:70634978G>T ENST00000381269.2 - 2 915 c.162C>A c.(160-162)tgC>tgA p.C54* SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 54 CACCCTCCTTGCAGTCCGATG 0.542000 0 SO:0001587 stop_gained ENST00000381269.2 0 1 hg19 CCDS35498.1 . . . . . . . . . . G 27.0 4.790219 0.90367 . . ENSG00000100678 ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359 . . . 4.84 1.96 0.26148 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 8.5618 0.33516 0.3052:0.0:0.6948:0.0 . . . . X 54 . ENSP00000349392:C54X C - 3 2 SLC8A3 69704731 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.591000 0.53986 0.645000 0.30675 -0.251000 0.11542 TGC TCGA-XD-AAUL-01A-21D-A397-08 SLC8A3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000390736.1 1 0 1 39 160 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 1.000000 39 159 0 59 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.054309 0 0.340000 1.880000 0.342236 0.990000 8.500000e-01 1.000000 1.000000 0.987780 0.990000 1 0.990000 1.000000 GPR176 11245 broad.mit.edu 37 15 40093386 40093386 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:40093386G>A ENST00000561100.1 - 3 2360 c.1495C>T c.(1495-1497)Cgg>Tgg p.R499W GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank NM_007223.1 NP_009154.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) CTCATCTTCCGCTCCACCCTG 0.512000 0 SO:0001583 missense ENST00000561100.1 0 1 hg19 CCDS10051.1 . . . . . . . . . . G 16.67 3.188762 0.57909 0.0 1.16E-4 ENSG00000166073 ENST00000299092;ENST00000543580 D 0.85556 -2.0 6.17 3.22 0.36961 . 0.112267 0.64402 N 0.000014 T 0.76357 0.3976 L 0.48642 1.525 0.58432 D 0.999999 B 0.33135 0.399 B 0.23275 0.045 T 0.74858 -0.3521 10 0.87932 D 0 -10.342 8.0277 0.30446 0.1344:0.0:0.6508:0.2148 . 499 Q14439 GP176_HUMAN W 499;454 ENSP00000439361:R454W ENSP00000299092:R499W R - 1 2 GPR176 37880678 1.000000 0.71417 0.999000 0.59377 0.993000 0.82548 2.812000 0.47994 0.939000 0.37446 0.655000 0.94253 CGG TCGA-XD-AAUL-01A-21D-A397-08 GPR176-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252117.2 0 0 0 6 518 0 114 0 1.570954e-01 0 52 0 114 2 0 0 0 0 0 2 1 0.964317 6 514 0 114 2 0 0 0 0 0 2 -2.540621 1 1 121412 9 45 1 0 1 1 2.040204 0 0.340000 1.880000 0.338876 0.060000 2.000000e-02 0.140000 0.060000 0.077875 0.060000 0 0.040000 0.110000 AQP9 366 broad.mit.edu 37 15 58476236 58476236 + Missense_Mutation SNP C C G rs76614170 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr15:58476236C>G ENST00000219919.4 + 6 1160 c.790C>G c.(790-792)Ctt>Gtt p.L264V AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 21 CATCTATGTTCTTGTCATTGA 0.433000 0 SO:0001583 missense ENST00000219919.4 1 1 hg19 CCDS10165.1 . . . . . . . . . . C 9.853 1.194115 0.22037 . . ENSG00000103569 ENST00000219919;ENST00000536493 T;T 0.12465 2.68;2.68 5.31 -0.166 0.13351 Aquaporin-like (2); 0.479864 0.18495 N 0.139524 T 0.05044 0.0135 N 0.08118 0 0.09310 N 0.999999 B 0.24576 0.106 B 0.23852 0.049 T 0.34378 -0.9831 10 0.28530 T 0.3 . 3.1734 0.06560 0.1104:0.4588:0.2167:0.2141 . 264 O43315 AQP9_HUMAN V 264 ENSP00000219919:L264V;ENSP00000441390:L264V ENSP00000219919:L264V L + 1 0 AQP9 56263528 0.003000 0.15002 0.001000 0.08648 0.991000 0.79684 0.074000 0.14662 0.095000 0.17434 0.655000 0.94253 CTT TCGA-XD-AAUL-01A-21D-A397-08 AQP9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255878.2 1 0 0 107 496 0 165 0 6.080381e-01 0 11 0 165 2 0 0 0 0 0 2 1 1.000000 107 496 0 165 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 2.040204 0 0.340000 1.880000 0.338876 0.990000 8.600000e-01 1.000000 1.000000 0.982068 0.990000 1 0.940000 1.000000 HS3ST4 9951 broad.mit.edu 37 16 26147120 26147120 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr16:26147120A>G ENST00000331351.5 + 2 1314 c.922A>G c.(922-924)Atc>Gtc p.I308V HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 15 GAAACCCGAGATCCCCACCTT 0.542000 0 SO:0001583 missense ENST00000331351.5 1 1 hg19 CCDS53995.1 . . . . . . . . . . A 16.99 3.273903 0.59649 . . ENSG00000182601 ENST00000331351 T 0.81415 -1.49 5.35 5.35 0.76521 Sulfotransferase domain (1); 0.000000 0.64402 U 0.000002 D 0.82545 0.5060 L 0.55017 1.72 0.47094 D 0.999317 P 0.35944 0.529 P 0.46940 0.532 T 0.81120 -0.1077 10 0.35671 T 0.21 . 14.5047 0.67746 1.0:0.0:0.0:0.0 . 308 Q9Y661 HS3S4_HUMAN V 308 ENSP00000330606:I308V ENSP00000330606:I308V I + 1 0 HS3ST4 26054621 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.265000 0.78442 2.015000 0.59207 0.533000 0.62120 ATC TCGA-XD-AAUL-01A-21D-A397-08 HS3ST4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000133286.2 1 0 1 104 626 0 171 0 0 0 0 171 2 0 0 0 0 0 2 1 1.000000 103 625 0 168 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.055871 0 0.340000 1.880000 0.342236 0.830000 6.900000e-01 1.000000 0.840000 0.845158 0.830000 0 0.760000 0.920000 KRT32 3882 broad.mit.edu 37 17 39619177 39619177 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:39619177C>T ENST00000225899.3 - 6 1225 c.1122G>A c.(1120-1122)cgG>cgA p.R374R NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 21 Breast(137;0.000812) CCTGGTTCTGCCGCTCCAGGT 0.647000 0 SO:0001819 synonymous_variant ENST00000225899.3 0 1 hg19 CCDS11393.1 TCGA-XD-AAUL-01A-21D-A397-08 KRT32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257293.1 0 0 0 5 460 0 146 0 0 0 0 146 2 0 0 0 0 0 2 1 0.933466 5 448 0 145 2 0 0 0 0 0 2 -2.440129 0 1 0 0 1 1 2 3 2.052054 0 0.340000 1.880000 0.342236 0.060000 2.000000e-02 0.160000 0.060000 0.084572 0.060000 0 0.030000 0.110000 SLC16A11 162515 broad.mit.edu 37 17 6945697 6945697 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:6945697G>A ENST00000308009.1 - 3 1141 c.804C>T c.(802-804)caC>caT p.H268H SLC16A11_ENST00000447225.1_Silent_p.H244H NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 9 GGTCTAAAGCGTGGGGAGCCA 0.672000 0 SO:0001819 synonymous_variant ENST00000308009.1 1 1 hg19 CCDS11086.1 TCGA-XD-AAUL-01A-21D-A397-08 SLC16A11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000219921.1 1 0 0 7 30 0 13 1 6.112075e-01 4 6 0 13 2 0 0 0 0 0 2 1 0.984295 7 30 0 13 2 0 0 0 0 0 2 -15.407510 1 1 0 0 1 0 1 1 1.721025 1 0.340000 1.880000 0.212880 0.780000 4.000000e-01 1.000000 1.000000 0.773814 0.780000 0 0.580000 0.960000 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 T C T T Valid Somatic Phase_I WXS targeted Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr17:7578394T>C ENST00000269305.4 - 5 725 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GCAGCGCTCATGGTGGGGGCA 0.642000 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 217 Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1) 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 . . . . . . . . . . T 26.0 4.694391 0.88830 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99909 -7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87 5.47 5.47 0.80525 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.048592 0.85682 D 0.000000 D 0.99917 0.9961 M 0.92507 3.315 0.80722 D 1 D;D;D;D;D;D;D 0.89917 0.989;1.0;0.985;1.0;0.995;1.0;0.996 D;D;D;D;D;D;D 0.97110 0.929;0.996;0.912;1.0;0.985;0.995;0.937 D 0.95874 0.8893 10 0.87932 D 0 -15.4889 13.8032 0.63214 0.0:0.0:0.0:1.0 . 140;179;179;86;179;179;179 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. R 179;179;179;179;179;179;168;86;47;86;47 ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R ENSP00000269305:H179R H - 2 0 TP53 7519119 1.000000 0.71417 0.945000 0.38365 0.856000 0.48823 6.263000 0.72521 2.208000 0.71279 0.460000 0.39030 CAT TCGA-XD-AAUL-01A-21D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 63 216 0 95 1 9.999010e-01 17 33 0 95 2 1 1 145 613 0 902 2 1 1.000000 63 216 0 93 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.721025 1 0.340000 1.880000 0.212880 0.980000 8.200000e-01 1.000000 1.000000 0.965763 0.980000 1 0.910000 1.000000 TNPO2 30000 broad.mit.edu 37 19 12826533 12826533 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr19:12826533C>T ENST00000592287.1 - 5 454 c.346G>A c.(346-348)Gct>Act p.A116T TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T NM_001136196.1 NP_001129668.1 O14787 TNPO2_HUMAN transportin 2 28 CCCTTGGAAGCGATGGTGGTG 0.632000 0 SO:0001583 missense ENST00000592287.1 1 1 hg19 CCDS45991.1 . . . . . . . . . . C 16.73 3.203182 0.58234 . . ENSG00000105576 ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320 T;T;T;T 0.71461 -0.57;-0.57;-0.57;-0.57 5.45 5.45 0.79879 Armadillo-like helical (1);Armadillo-type fold (1); 0.050139 0.85682 D 0.000000 T 0.70064 0.3181 M 0.76433 2.335 0.58432 D 0.999999 B;B 0.30482 0.281;0.246 B;B 0.19148 0.024;0.019 T 0.69446 -0.5143 10 0.39692 T 0.17 -24.7164 18.0522 0.89353 0.0:1.0:0.0:0.0 . 280;116 Q4LE60;O14787 .;TNPO2_HUMAN T 280;116;116;116;116;116;116 ENSP00000407182:A116T;ENSP00000389648:A116T;ENSP00000397379:A116T;ENSP00000349321:A116T ENSP00000349321:A116T A - 1 0 TNPO2 12687533 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 4.330000 0.59266 2.563000 0.86464 0.555000 0.69702 GCT TCGA-XD-AAUL-01A-21D-A397-08 TNPO2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000450785.1 1 0 1 9 78 0 34 1 9.521771e-01 11 38 0 34 2 0 0 0 0 0 2 1 0.995044 9 78 0 33 2 0 0 0 0 0 2 -15.473470 1 1 121056 1 34 1 1 2 3 2.054012 0 0.340000 1.880000 0.342236 0.620000 3.100000e-01 1.000000 1.000000 0.647372 0.620000 0 0.450000 0.850000 FNDC7 163479 broad.mit.edu 37 1 109270590 109270590 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:109270590G>A ENST00000370017.3 + 7 1549 c.1272G>A c.(1270-1272)tcG>tcA p.S424S FNDC7_ENST00000271311.2_Silent_p.S425S NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) GCACCCTTTCGGCTCTAGAGT 0.483000 0 SO:0001819 synonymous_variant ENST00000370017.3 1 1 hg19 CCDS44185.1 . . . . . . . . . . G 6.401 0.442051 0.12164 . . ENSG00000143107 ENST00000445274 . . . 5.73 -11.5 0.00074 . . . . . T 0.24661 0.0598 . . . 0.80722 D 1 . . . . . . T 0.56745 -0.7928 4 . . . -10.2511 7.5534 0.27810 0.1:0.0588:0.4515:0.3897 . . . . S 200 . . G + 1 0 FNDC7 109072113 0.000000 0.05858 0.062000 0.19696 0.789000 0.44602 -3.528000 0.00441 -3.670000 0.00123 -1.036000 0.02392 GGC TCGA-XD-AAUL-01A-21D-A397-08 FNDC7-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030589.4 1 0 1 72 408 0 113 0 0 0 0 113 2 0 0 0 0 0 2 1 1.000000 71 406 0 113 2 0 0 0 0 0 2 -2.524082 1 1 121412 6 42 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.880000 7.000000e-01 1.000000 1.000000 0.884760 0.880000 1 0.790000 0.990000 SHC1 6464 broad.mit.edu 37 1 154940985 154940985 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:154940985C>T ENST00000368445.5 - 4 950 c.736G>A c.(736-738)Gca>Aca p.A246T SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T NM_183001.4 NP_892113.4 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCAGTCTGCGGCCATGAGG 0.552000 NSCLC(4;32 234 1864 2492 3259 13747 17376) 0 SO:0001583 missense ENST00000368445.5 0 1 hg19 CCDS30881.1 . . . . . . . . . . C 15.42 2.827512 0.50845 0.0 1.16E-4 ENSG00000160691 ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442 T;T;T;T;T;T;T;T;T 0.32272 2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07 5.45 5.45 0.79879 Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1); 0.124032 0.53938 D 0.000045 T 0.07143 0.0181 N 0.11000 0.08 0.33533 D 0.593833 B;B;B 0.32829 0.386;0.023;0.029 B;B;B 0.29524 0.103;0.009;0.016 T 0.19031 -1.0318 10 0.23891 T 0.37 . 12.4188 0.55508 0.283:0.717:0.0:0.0 . 25;246;246 Q59HB0;P29353-6;P29353 .;.;SHC1_HUMAN T 246;246;47;136;136;182;17;17;136;136 ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T ENSP00000396162:A136T A - 1 0 SHC1 153207609 0.998000 0.40836 1.000000 0.80357 0.993000 0.82548 0.811000 0.27198 2.555000 0.86185 0.467000 0.42956 GCA TCGA-XD-AAUL-01A-21D-A397-08 SHC1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000090781.2 0 0 0 9 1107 1 307 0 7.383232e-02 0 296 1 307 6 0 0 0 0 0 2 0 0.193907 9 1096 1 305 14 0 0 0 0 0 2 -1.824562 0 1 121412 5 42 1 0 1 1 2.039275 0 0.340000 1.880000 0.338876 0.040000 1.000000e-02 0.090000 0.040000 0.052550 0.040000 0 0.020000 0.070000 RXRG 6258 broad.mit.edu 37 1 165376097 165376097 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:165376097G>A ENST00000359842.5 - 9 1498 c.1196C>T c.(1195-1197)gCc>gTc p.A399V NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755) CTCAAGGGTGGCATAAACCTT 0.522000 0 SO:0001583 missense ENST00000359842.5 0 1 hg19 CCDS1248.1 . . . . . . . . . . G 27.9 4.869333 0.91587 . . ENSG00000143171 ENST00000359842 D 0.96802 -4.13 4.24 4.24 0.50183 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.000000 0.85682 D 0.000000 D 0.96565 0.8879 L 0.50847 1.595 0.80722 D 1.000000 D 0.76494 0.999 D 0.76575 0.988 D 0.95762 0.8801 9 0.38643 T 0.18 . 15.7167 0.77672 0.0:0.0:1.0:0.0 . 399 P48443 RXRG_HUMAN V 399 ENSP00000352900:A399V ENSP00000352900:A399V A - 2 0 RXRG 163642721 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.336000 0.96533 2.332000 0.79248 0.563000 0.77884 GCC TCGA-XD-AAUL-01A-21D-A397-08 RXRG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083794.2 0 0 0 5 353 0 93 0 9.552450e-04 0 3 0 93 2 0 0 0 0 0 2 1 0.937961 5 353 0 92 2 0 0 0 0 0 2 -2.140102 0 1 0 0 1 1 2 3 2.045081 0 0.340000 1.880000 0.341120 0.080000 2.000000e-02 0.190000 0.080000 0.097682 0.080000 0 0.050000 0.140000 PTPN14 5784 broad.mit.edu 37 1 214557484 214557484 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:214557484G>A ENST00000366956.5 - 13 1908 c.1714C>T c.(1714-1716)Cgg>Tgg p.R572W PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 58 GGTCGTGGCCGTGGGTAGGGG 0.652000 Colon(92;557 1424 24372 34121 40073) 0 SO:0001583 missense ENST00000366956.5 1 1 hg19 CCDS1514.1 . . . . . . . . . . G 19.56 3.850976 0.71719 0.0 1.16E-4 ENSG00000152104 ENST00000366956 T 0.68765 -0.35 5.61 4.68 0.58851 . 0.194784 0.45606 D 0.000350 T 0.72162 0.3426 L 0.47716 1.5 0.80722 D 1 D 0.69078 0.997 P 0.56434 0.798 T 0.72200 -0.4362 10 0.38643 T 0.18 . 16.3998 0.83635 0.0:0.0:0.8676:0.1324 . 572 Q15678 PTN14_HUMAN W 572 ENSP00000355923:R572W ENSP00000355923:R572W R - 1 2 PTPN14 212624107 0.883000 0.30277 0.857000 0.33713 0.992000 0.81027 3.487000 0.53222 1.482000 0.48325 0.650000 0.86243 CGG TCGA-XD-AAUL-01A-21D-A397-08 PTPN14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089918.2 1 0 1 57 242 0 75 1 5.386757e-01 2 7 0 75 2 0 0 0 0 0 2 1 1.000000 57 238 0 73 2 0 0 0 0 0 2 -3.515253 1 1 121296 4 39 1 0 1 1 2.039647 0 0.340000 1.880000 0.338876 0.990000 8.700000e-01 1.000000 1.000000 0.988569 0.990000 1 0.980000 1.000000 TAF5L 27097 broad.mit.edu 37 1 229730353 229730353 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:229730353G>A ENST00000366676.1 - 4 1460 c.1461C>T c.(1459-1461)ggC>ggT p.G487G TAF5L_ENST00000258281.2_Silent_p.G487G O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) GCTGGTCCTCGCCAGCAGACG 0.577000 0 SO:0001819 synonymous_variant ENST00000366676.1 0 1 hg19 CCDS1581.1 TCGA-XD-AAUL-01A-21D-A397-08 TAF5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095229.1 0 0 0 6 533 0 136 0 8.000068e-02 0 35 0 136 2 0 0 0 0 0 2 1 0.964124 6 528 0 133 2 0 0 0 0 0 2 -2.663731 1 1 121412 1 29 1 0 1 1 2.039647 0 0.340000 1.880000 0.338876 0.060000 2.000000e-02 0.140000 0.060000 0.075726 0.060000 0 0.040000 0.100000 OR2C3 81472 broad.mit.edu 37 1 247695055 247695055 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:247695055G>A ENST00000366487.3 - 2 1120 c.759C>T c.(757-759)taC>taT p.Y253Y GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron NM_198074.4 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGATGCTCCCGTAAAACAGAG 0.547000 0 SO:0001819 synonymous_variant ENST00000366487.3 0 1 hg19 CCDS1634.2 TCGA-XD-AAUL-01A-21D-A397-08 OR2C3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097626.2 0 0 0 5 348 1 79 0 0 0 1 79 2 0 0 0 0 0 2 0 0.011809 5 347 1 78 16 0 0 0 0 0 2 -2.967221 1 1 121412 1 42 1 0 1 1 2.039647 0 0.340000 1.880000 0.338876 0.080000 2.000000e-02 0.180000 0.080000 0.098708 0.080000 0 0.050000 0.140000 GPATCH3 63906 broad.mit.edu 37 1 27220874 27220874 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:27220874G>A ENST00000361720.5 - 3 927 c.904C>T c.(904-906)Cgg>Tgg p.R302W NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) GCTTCATGCCGTTCCCATTCC 0.602000 0 SO:0001583 missense ENST00000361720.5 0 1 hg19 CCDS290.1 . . . . . . . . . . G 21.5 4.152813 0.78001 . . ENSG00000198746 ENST00000361720;ENST00000536641;ENST00000374122 T 0.56776 0.44 4.57 4.57 0.56435 . 0.073564 0.56097 D 0.000023 T 0.73187 0.3555 M 0.84683 2.71 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 T 0.77534 -0.2552 10 0.87932 D 0 -19.9713 11.608 0.51043 0.0:0.0:0.6939:0.3061 . 302 Q96I76 GPTC3_HUMAN W 302;284;113 ENSP00000354645:R302W ENSP00000354645:R302W R - 1 2 GPATCH3 27093461 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 2.637000 0.46553 2.363000 0.80096 0.563000 0.77884 CGG TCGA-XD-AAUL-01A-21D-A397-08 GPATCH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012181.1 0 0 0 6 535 0 169 0 1.980680e-01 0 63 0 169 2 0 0 0 0 0 2 1 0.964128 6 531 0 164 2 0 0 0 0 0 2 -2.239679 0 1 0 0 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.060000 2.000000e-02 0.150000 0.060000 0.084888 0.060000 0 0.040000 0.110000 FUBP1 8880 broad.mit.edu 37 1 78430650 78430650 + Silent SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:78430650G>T ENST00000370768.2 - 9 721 c.640C>A c.(640-642)Cgg>Agg p.R214R FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370767.1_Silent_p.R214R NM_003902.3 NP_003893.2 Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 17 ACTCCAGCCCGTTCCTGTTAC 0.358000 F, N oligodendroglioma Rec yes 1 1p13.1 8880 far upstream element (FUSE) binding protein 1 O 0 SO:0001819 synonymous_variant ENST00000370768.2 1 1 hg19 CCDS683.1 TCGA-XD-AAUL-01A-21D-A397-08 FUBP1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098030.3 1 0 0 29 472 0 127 1 9.940525e-01 14 117 0 127 2 0 0 0 0 0 2 1 1.000000 29 468 0 127 2 0 0 0 0 0 2 -6.291676 1 1 0 0 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.340000 2.300000e-01 0.500000 0.340000 0.357041 0.340000 0 0.280000 0.420000 COL24A1 255631 broad.mit.edu 37 1 86590618 86590618 + Silent SNP A A C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr1:86590618A>C ENST00000370571.2 - 3 1767 c.1401T>G c.(1399-1401)acT>acG p.T467T COL24A1_ENST00000436319.1_Silent_p.T467T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 101 CATAAAGCTCAGTTTCATAGC 0.373000 0 SO:0001819 synonymous_variant ENST00000370571.2 0 1 hg19 CCDS41353.1 TCGA-XD-AAUL-01A-21D-A397-08 COL24A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000029335.4 0 0 0 6 375 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 0.964990 6 374 0 76 2 0 0 0 0 0 2 -6.400506 1 1 0 0 1 1 2 3 2.057568 0 0.340000 1.880000 0.342236 0.090000 3.000000e-02 0.210000 0.100000 0.116078 0.090000 0 0.060000 0.150000 PANK2 80025 broad.mit.edu 37 20 3899375 3899375 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr20:3899375C>T ENST00000316562.4 + 6 1600 c.1594C>T c.(1594-1596)Cgg>Tgg p.R532W PANK2_ENST00000497424.1_Missense_Mutation_p.R241W|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 15 GATCGCCATGCGGCTTTTGGC 0.388000 0 GRCh37 CM033434 PANK2 M SO:0001583 missense ENST00000316562.4 0 1 hg19 CCDS13071.2 . . . . . . . . . . C 21.6 4.167626 0.78339 . . ENSG00000125779 ENST00000497424;ENST00000316562;ENST00000399552 D;D 0.99537 -6.11;-6.11 5.12 1.89 0.25635 . 0.058340 0.64402 D 0.000003 D 0.99083 0.9685 L 0.46819 1.47 0.36196 D 0.850384 D 0.89917 1.0 D 0.77557 0.99 D 0.99414 1.0931 10 0.87932 D 0 . 5.9846 0.19426 0.4537:0.4539:0.0:0.0925 . 532 Q9BZ23 PANK2_HUMAN W 241;532;348 ENSP00000417609:R241W;ENSP00000313377:R532W ENSP00000313377:R532W R + 1 2 PANK2 3847375 1.000000 0.71417 0.996000 0.52242 0.999000 0.98932 6.670000 0.74467 0.735000 0.32537 0.655000 0.94253 CGG TCGA-XD-AAUL-01A-21D-A397-08 PANK2-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077793.2 0 0 0 7 817 0 238 0 1.356132e-01 0 65 0 238 2 0 0 0 0 0 2 0 0.126075 6 812 1 238 13 0 0 0 0 0 2 -1.860360 0 1 0 0 1 1 2 3 2.058330 0 0.340000 1.880000 0.342236 0.050000 1.000000e-02 0.110000 0.050000 0.066339 0.050000 0 0.030000 0.080000 RIMBP3 85376 broad.mit.edu 37 22 20457064 20457064 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:20457064C>T ENST00000426804.1 - 1 4722 c.4238G>A c.(4237-4239)gGg>gAg p.G1413E SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA NM_015672.1 NP_056487.1 Q9UFD9 RIM3A_HUMAN RIMS binding protein 3 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TCTCTTCACCCCCAGAGCTTG 0.632000 0 SO:0001583 missense ENST00000426804.1 0 1 hg19 CCDS46665.1 . . . . . . . . . . C 14.37 2.515436 0.44763 . . ENSG00000196622 ENST00000355186;ENST00000426804 T 0.17054 2.3 3.58 2.51 0.30379 . 1.948520 0.02516 N 0.092008 T 0.22399 0.0540 L 0.52573 1.65 0.09310 N 1 D 0.54047 0.964 B 0.44224 0.444 T 0.24368 -1.0162 10 0.66056 D 0.02 -6.4639 8.1334 0.31039 0.2404:0.7596:0.0:0.0 . 1319 Q9UFD9 RIM3A_HUMAN E 1319;1413 ENSP00000391564:G1413E ENSP00000347318:G1319E G - 2 0 RIMBP3 18837064 0.000000 0.05858 0.003000 0.11579 0.004000 0.04260 0.054000 0.14205 0.805000 0.34159 0.423000 0.28283 GGG TCGA-XD-AAUL-01A-21D-A397-08 RIMBP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318945.2 0 0 0 13 59 0 15 0 3.783784e-02 0 2 0 15 2 0 0 0 0 0 2 1 0.965093 5 24 0 30 2 0 0 0 0 0 2 -19.999880 1 1 0 0 1 2 2 4 2.147644 0 0.340000 1.880000 0.374052 0.990000 6.600000e-01 1.000000 1.000000 0.958200 0.990000 1 0.890000 1.000000 TTLL8 164714 broad.mit.edu 37 22 50472798 50472798 + Missense_Mutation SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr22:50472798A>G ENST00000266182.6 - 9 1014 c.1015T>C c.(1015-1017)Tcc>Ccc p.S339P TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P A6PVC2 TTLL8_HUMAN tubulin tyrosine ligase-like family, member 8 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) CGGCCCCGGGACTTGGCCGCG 0.607000 0 SO:0001583 missense ENST00000266182.6 1 1 hg19 . . . . . . . . . . A 16.98 3.271331 0.59649 . . ENSG00000138892 ENST00000266182;ENST00000440475;ENST00000433387 T;T;T 0.06608 3.28;3.28;3.28 4.61 4.61 0.57282 . 0.136701 0.51477 D 0.000092 T 0.34424 0.0897 H 0.94385 3.53 0.37158 D 0.902473 D 0.89917 1.0 D 0.91635 0.999 T 0.57201 -0.7852 10 0.87932 D 0 . 13.2755 0.60184 1.0:0.0:0.0:0.0 . 339 B5MDV0 . P 339;323;359 ENSP00000266182:S339P;ENSP00000387509:S323P;ENSP00000392252:S359P ENSP00000266182:S339P S - 1 0 TTLL8 48814925 1.000000 0.71417 1.000000 0.80357 0.267000 0.26476 6.401000 0.73256 1.836000 0.53414 0.459000 0.35465 TCC TCGA-XD-AAUL-01A-21D-A397-08 TTLL8-201 KNOWN basic|appris_candidate_longest protein_coding protein_coding 0 0 1 59 222 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 58 219 0 101 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.711071 1 0.340000 1.880000 0.204819 0.920000 7.600000e-01 1.000000 0.990000 0.919433 0.920000 1 0.850000 0.980000 TTN 7273 broad.mit.edu 37 2 179585746 179585746 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:179585746G>A ENST00000591111.1 - 77 22273 c.22049C>T c.(22048-22050)aCg>aTg p.T7350M RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T7667M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCATTGATCGTAAGCAATGC 0.453000 0 SO:0001583 missense ENST00000591111.1 0 1 hg19 . . . . . . . . . . G 11.16 1.555764 0.27827 0.0 1.19E-4 ENSG00000155657 ENST00000342992 T 0.69806 -0.43 6.16 6.16 0.99307 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.73598 0.3607 L 0.58302 1.8 0.80722 D 1 D 0.64830 0.994 P 0.58577 0.841 T 0.75402 -0.3330 9 0.87932 D 0 . 9.8046 0.40786 0.069:0.0:0.7906:0.1404 . 7350 Q8WZ42 TITIN_HUMAN M 6423 ENSP00000343764:T6423M ENSP00000343764:T6423M T - 2 0 TTN 179293991 0.900000 0.30661 0.994000 0.49952 0.904000 0.53231 3.281000 0.51685 2.937000 0.99478 0.650000 0.86243 ACG TCGA-XD-AAUL-01A-21D-A397-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 6 576 1 122 0 0 0 1 122 2 0 0 0 0 0 2 0 0.015802 6 573 1 121 17 0 0 0 0 0 2 -2.593289 1 1 120908 1 39 1 0 0 0 2.015620 0 0.340000 1.880000 0.330900 0.060000 2.000000e-02 0.120000 0.060000 0.069328 0.060000 0 0.030000 0.090000 SGOL2 151246 broad.mit.edu 37 2 201437658 201437658 + Silent SNP A A G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:201437658A>G ENST00000357799.4 + 7 2687 c.2589A>G c.(2587-2589)caA>caG p.Q863Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) p.Q863H(1) 46 ATGAATTTCAAACAGTTGATC 0.318000 1 Substitution - Missense(1) SO:0001819 synonymous_variant ENST00000357799.4 1 1 hg19 CCDS42796.1 TCGA-XD-AAUL-01A-21D-A397-08 SGOL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335834.1 0 0 0 14 484 0 103 0 1.796690e-02 0 7 0 103 2 0 0 0 0 0 2 1 0.999746 14 480 0 102 2 0 0 0 0 0 2 -12.977720 1 1 120766 5 41 1 0 0 0 2.015620 0 0.340000 1.880000 0.330900 0.160000 9.000000e-02 0.260000 0.160000 0.173363 0.160000 0 0.120000 0.220000 MAP2 4133 broad.mit.edu 37 2 210560818 210560818 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:210560818C>T ENST00000360351.4 + 7 4430 c.3924C>T c.(3922-3924)agC>agT p.S1308S MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MTAP2_HUMAN microtubule-associated protein 2 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229) GGTCCCACAGCGTGCGTTTTG 0.507000 Pancreas(27;423 979 28787 29963) 0 SO:0001819 synonymous_variant ENST00000360351.4 1 1 hg19 CCDS2384.1 TCGA-XD-AAUL-01A-21D-A397-08 MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256521.2 1 0 1 57 331 0 105 0 0 0 1 0 105 2 0 0 0 0 0 2 1 1.000000 56 330 0 105 2 0 0 0 0 0 2 -3.320516 1 1 121410 1 37 1 0 0 0 2.015620 0 0.340000 1.880000 0.330900 0.840000 6.500000e-01 1.000000 1.000000 0.853555 0.840000 0 0.740000 0.960000 USP37 57695 broad.mit.edu 37 2 219321859 219321859 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:219321859C>A ENST00000258399.3 - 24 3081 c.2669G>T c.(2668-2670)cGg>cTg p.R890L USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 35 Renal(207;0.0915) ACTGATGAGCCGGTACGAATG 0.353000 0 SO:0001583 missense ENST00000258399.3 0 1 hg19 CCDS2418.1 . . . . . . . . . . C 24.7 4.562263 0.86335 . . ENSG00000135913 ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019 T;T;T;T 0.32515 1.45;1.45;1.45;1.45 4.52 4.52 0.55395 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 0.000000 0.85682 D 0.000000 T 0.36799 0.0980 M 0.68317 2.08 0.80722 D 1 B;B 0.25904 0.112;0.137 B;B 0.26094 0.039;0.066 T 0.39643 -0.9604 10 0.87932 D 0 -8.6172 17.4426 0.87569 0.0:1.0:0.0:0.0 . 796;890 Q86T82-2;Q86T82 .;UBP37_HUMAN L 890;890;796;890 ENSP00000258399:R890L;ENSP00000393662:R890L;ENSP00000400902:R796L;ENSP00000396585:R890L ENSP00000258399:R890L R - 2 0 USP37 219030103 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 5.827000 0.69300 2.327000 0.79052 0.655000 0.94253 CGG TCGA-XD-AAUL-01A-21D-A397-08 USP37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256779.3 0 0 0 4 127 0 33 0 4.875373e-03 0 3 0 33 2 0 0 0 0 0 2 1 0.889737 4 126 0 33 2 0 0 0 0 0 2 -2.893871 1 1 0 0 1 0 0 0 2.015620 0 0.340000 1.880000 0.330900 0.190000 6.000000e-02 0.410000 0.170000 0.214791 0.190000 0 0.110000 0.300000 TRIP12 9320 broad.mit.edu 37 2 230724186 230724186 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:230724186T>G ENST00000283943.5 - 3 381 c.203A>C c.(202-204)aAt>aCt p.N68T TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) TCCTCGAGAATTGTCTTTCTT 0.463000 0 SO:0001583 missense ENST00000283943.5 1 1 hg19 CCDS33391.1 . . . . . . . . . . T 11.52 1.663864 0.29515 . . ENSG00000153827 ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290 T;T 0.43294 0.95;0.95 5.72 -0.261 0.12963 . 0.285942 0.41500 D 0.000862 T 0.18383 0.0441 N 0.03608 -0.345 0.30514 N 0.769153 B;B;B 0.12013 0.001;0.005;0.0 B;B;B 0.10450 0.001;0.005;0.0 T 0.13150 -1.0520 10 0.33141 T 0.24 . 11.6681 0.51385 0.0:0.2442:0.0:0.7558 . 68;110;68 D4HL82;Q14CA3;Q14669 .;.;TRIPC_HUMAN T 68;110;110;110;68;68;110;68 ENSP00000283943:N68T;ENSP00000373696:N110T ENSP00000283943:N68T N - 2 0 TRIP12 230432430 1.000000 0.71417 0.999000 0.59377 0.990000 0.78478 1.262000 0.32992 0.060000 0.16281 0.460000 0.39030 AAT TCGA-XD-AAUL-01A-21D-A397-08 TRIP12-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000331861.3 1 0 1 102 574 0 163 1 9.924866e-01 12 32 0 163 2 0 0 0 0 0 2 1 1.000000 102 569 0 162 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.015620 0 0.340000 1.880000 0.330900 0.870000 7.200000e-01 1.000000 1.000000 0.876208 0.870000 1 0.790000 0.960000 DNMT3A 1788 broad.mit.edu 37 2 25505406 25505406 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:25505406C>T ENST00000264709.3 - 4 689 c.352G>A c.(352-354)Gga>Aga p.G118R DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACCCTCTCCCTCTGCTGGG 0.657000 Mis, F, N, S AML Rec yes 2 2p23 1788 DNA (cytosine-5-)-methyltransferase 3 alpha L 0 SO:0001583 missense ENST00000264709.3 0 1 hg19 CCDS33157.1 . . . . . . . . . . C 18.65 3.669794 0.67814 . . ENSG00000119772 ENST00000321117;ENST00000264709;ENST00000406659 D;D 0.93712 -3.27;-3.27 4.91 3.07 0.35406 . 0.000000 0.42964 D 0.000639 D 0.84524 0.5491 N 0.14661 0.345 0.33870 D 0.634862 B;B 0.23735 0.09;0.001 B;B 0.23419 0.046;0.0 T 0.82859 -0.0249 10 0.62326 D 0.03 -5.5202 5.9618 0.19303 0.0:0.7014:0.1958:0.1028 . 118;118 Q9Y6K1-3;Q9Y6K1 .;DNM3A_HUMAN R 118 ENSP00000324375:G118R;ENSP00000264709:G118R ENSP00000264709:G118R G - 1 0 DNMT3A 25358910 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.020000 0.41010 1.046000 0.40249 0.563000 0.77884 GGA TCGA-XD-AAUL-01A-21D-A397-08 DNMT3A-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000211587.1 0 0 0 5 297 0 78 0 8.719054e-03 0 7 0 78 2 0 0 0 0 0 2 1 0.937504 6 295 0 76 2 0 0 0 0 0 2 -3.843331 1 1 0 0 1 1 2 3 2.042220 0 0.340000 1.880000 0.341120 0.100000 3.000000e-02 0.220000 0.100000 0.115558 0.100000 0 0.060000 0.160000 DYSF 8291 broad.mit.edu 37 2 71906211 71906211 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr2:71906211G>A ENST00000258104.3 + 52 6069 c.5792G>A c.(5791-5793)cGc>cAc p.R1931H DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 111 GATCTCAACCGCATGCCCAAG 0.547000 0 SO:0001583 missense ENST00000258104.3 0 1 hg19 CCDS1918.1 . . . . . . . . . . G 9.497 1.102291 0.20632 . . ENSG00000135636 ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041 T;T;T;T;T;T;T;T;T;T;T 0.72167 -0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63 5.28 -7.9 0.01169 C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); 0.552015 0.21044 N 0.081119 T 0.49029 0.1533 N 0.21373 0.66 0.30778 N 0.742287 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.10296 0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002 B;B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.10450 0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002 T 0.09618 -1.0666 10 0.20046 T 0.44 -2.9078 15.6058 0.76668 0.6902:0.0:0.3098:0.0 . 695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931 B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923 .;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN H 1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949 ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H ENSP00000258104:R1931H R + 2 0 DYSF 71759719 0.012000 0.17670 0.251000 0.24312 0.982000 0.71751 -0.679000 0.05203 -2.260000 0.00692 -0.897000 0.02905 CGC TCGA-XD-AAUL-01A-21D-A397-08 DYSF-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000251970.3 0 0 0 4 262 0 67 0 5.462954e-01 0 106 0 67 2 0 0 0 0 0 2 1 0.889293 4 260 0 66 2 0 0 0 0 0 2 -2.728886 1 1 0 0 1 1 2 3 2.042220 0 0.340000 1.880000 0.341120 0.090000 2.000000e-02 0.220000 0.090000 0.109128 0.090000 0 0.050000 0.160000 COL6A5 256076 broad.mit.edu 37 3 130189737 130189737 + Silent SNP C C T rs145645992 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:130189737C>T ENST00000432398.2 + 39 7994 c.7500C>T c.(7498-7500)acC>acT p.T2500T COL6A5_ENST00000265379.6_Silent_p.T2500T NM_153264.5 NP_694996.5 A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 44 AATATCCCACCGAAGATATGA 0.433000 0 SO:0001819 synonymous_variant ENST00000432398.2 1 1 hg19 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 1.935 -0.444990 0.04604 . . ENSG00000172752 ENST00000512836 . . . 5.35 -5.88 0.02290 . . . . . . . . . . . 0.09310 N 1 . . . . . . . . . . . . . . 2.1187 0.03720 0.3297:0.4103:0.11:0.15 . . . . X 752 . . R + 1 2 COL6A5 131672427 0.000000 0.05858 0.000000 0.03702 0.370000 0.29829 -1.103000 0.03329 -0.753000 0.04721 0.655000 0.94253 CGA TCGA-XD-AAUL-01A-21D-A397-08 COL6A5-202 KNOWN basic|appris_principal protein_coding protein_coding 1 0 1 28 121 0 37 0 0 0 1 0 37 2 0 0 0 0 0 2 1 1.000000 28 119 0 37 2 0 0 0 0 0 2 -3.355193 1 1 120792 3 39 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.990000 7.700000e-01 1.000000 1.000000 0.971924 0.990000 1 0.920000 1.000000 TRIM42 287015 broad.mit.edu 37 3 140397090 140397090 + Missense_Mutation SNP G G A rs116143762 by1000genomes TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:140397090G>A ENST00000286349.3 + 1 210 c.19G>A c.(19-21)Gtt>Att p.V7I NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 69 TGCTATGTGCGTTTGCTGTCC 0.507000 0 SO:0001583 missense ENST00000286349.3 0 1 hg19 CCDS3113.1 . . . . . . . . . . G 8.384 0.838139 0.16891 2.27E-4 0.0 ENSG00000155890 ENST00000286349 T 0.37411 1.2 5.37 0.561 0.17285 . 0.904453 0.09312 N 0.819434 T 0.14874 0.0359 N 0.03608 -0.345 0.20764 N 0.999857 B 0.09022 0.002 B 0.04013 0.001 T 0.25082 -1.0142 10 0.29301 T 0.29 -13.3898 5.8185 0.18514 0.1808:0.4034:0.4158:0.0 . 7 Q8IWZ5 TRI42_HUMAN I 7 ENSP00000286349:V7I ENSP00000286349:V7I V + 1 0 TRIM42 141879780 0.019000 0.18553 0.964000 0.40570 0.414000 0.31173 0.278000 0.18753 0.657000 0.30906 -0.214000 0.12660 GTT TCGA-XD-AAUL-01A-21D-A397-08 TRIM42-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359531.2 0 0 0 5 747 0 211 0 0 0 0 211 2 0 7.003013e-01 0 1025 1 896 6 1 0.936397 5 741 0 210 2 0 0 0 0 0 2 -2.461508 0 1 121412 8 47 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.030000 0 0.090000 0.040000 0.046541 0.030000 0 0.020000 0.070000 CNTN4 152330 broad.mit.edu 37 3 3078896 3078896 + Missense_Mutation SNP C C T rs151038163 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:3078896C>T ENST00000397461.1 + 17 2360 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4-AS1_ENST00000442749.2_RNA NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 61 Ovarian(110;0.156) ACATTCACAGCGACCGTGGTG 0.498000 0 SO:0001583 missense ENST00000397461.1 1 1 hg19 CCDS43041.1 . . . . . . . . . . C 18.47 3.630223 0.67015 0.0 2.33E-4 ENSG00000144619 ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906 T;T;T;T;T;T 0.54479 0.57;0.57;0.57;0.57;0.57;0.57 5.48 5.48 0.80851 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.75184 0.3815 M 0.82923 2.615 0.80722 D 1 D;D;D 0.76494 0.99;0.996;0.999 P;P;D 0.66084 0.794;0.842;0.941 T 0.78974 -0.1992 10 0.87932 D 0 . 19.387 0.94560 0.0:1.0:0.0:0.0 . 658;659;659 Q8IWV2-3;B3KTK4;Q8IWV2 .;.;CNTN4_HUMAN V 659;659;659;440;331;331 ENSP00000396010:A659V;ENSP00000380602:A659V;ENSP00000413642:A659V;ENSP00000351267:A440V;ENSP00000380600:A331V;ENSP00000392077:A331V ENSP00000351267:A440V A + 2 0 CNTN4 3053896 1.000000 0.71417 0.886000 0.34754 0.119000 0.20118 5.923000 0.70045 2.572000 0.86782 0.655000 0.94253 GCG TCGA-XD-AAUL-01A-21D-A397-08 CNTN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239236.2 1 0 1 132 797 0 285 0 4.792460e-01 0 11 0 285 2 0 0 0 0 0 2 1 1.000000 132 793 0 284 2 0 0 0 0 0 2 -20.000000 1 1 121412 13 46 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.830000 7.000000e-01 0.980000 0.840000 0.839716 0.830000 0 0.760000 0.910000 TGM4 7047 broad.mit.edu 37 3 44943132 44943132 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:44943132C>A ENST00000296125.4 + 7 842 c.774C>A c.(772-774)aaC>aaA p.N258K RP11-272D20.2_ENST00000427258.1_RNA NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 38 L-Glutamine(DB00130) AGTACTACAACACGAAGCAGG 0.597000 0 SO:0001583 missense ENST00000296125.4 1 1 hg19 CCDS2723.1 . . . . . . . . . . C 0.012 -1.652828 0.00785 . . ENSG00000163810 ENST00000296125 T 0.47177 0.85 2.69 0.475 0.16774 Transglutaminase-like (1); 3.486220 0.04860 U 0.443878 T 0.13713 0.0332 N 0.00879 -1.12 0.09310 N 1 B 0.06786 0.001 B 0.08055 0.003 T 0.36696 -0.9737 10 0.02654 T 1 . 1.8406 0.03149 0.2425:0.2526:0.3829:0.122 . 258 P49221 TGM4_HUMAN K 258 ENSP00000296125:N258K ENSP00000296125:N258K N + 3 2 TGM4 44918136 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.024000 0.12435 0.409000 0.25649 0.563000 0.77884 AAC TCGA-XD-AAUL-01A-21D-A397-08 TGM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256755.2 1 0 1 30 159 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 30 158 0 39 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.930000 6.500000e-01 1.000000 1.000000 0.906965 0.930000 1 0.780000 1.000000 ACTR8 93973 broad.mit.edu 37 3 53906488 53906488 + Nonsense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:53906488G>A ENST00000335754.3 - 10 1325 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000488802.1_5'Flank NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 19 GATCTGTGCTGCAAAGTCGTC 0.463000 0 SO:0001587 stop_gained ENST00000335754.3 0 1 hg19 CCDS2875.1 . . . . . . . . . . G 38 6.893393 0.97916 . . ENSG00000113812 ENST00000335754;ENST00000482349;ENST00000231909 . . . 5.87 5.87 0.94306 . 0.059585 0.64402 D 0.000001 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -2.2682 18.7629 0.91860 0.0:0.0:1.0:0.0 . . . . X 409;298;114 . ENSP00000231909:Q114X Q - 1 0 ACTR8 53881528 1.000000 0.71417 1.000000 0.80357 0.970000 0.65996 9.441000 0.97557 2.941000 0.99782 0.655000 0.94253 CAG TCGA-XD-AAUL-01A-21D-A397-08 ACTR8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350562.2 0 0 0 6 948 0 279 0 1.054107e-01 0 73 0 279 2 0 0 0 0 0 2 1 0.964323 6 942 0 276 2 0 0 0 0 0 2 -2.215798 0 1 0 0 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.030000 0 0.080000 0.040000 0.042854 0.030000 0 0.010000 0.060000 PDZRN3 23024 broad.mit.edu 37 3 73438995 73438995 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:73438995C>T ENST00000263666.4 - 7 1502 c.1388G>A c.(1387-1389)cGc>cAc p.R463H PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) TTCTCGGATGCGCCCATCCTT 0.468000 0 SO:0001583 missense ENST00000263666.4 0 1 hg19 CCDS33789.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 35|35 5.541639|5.541639 0.96474|0.96474 .|. .|. ENSG00000121440|ENSG00000121440 ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909 .|T;T;T;T;T;T .|0.51325 .|0.71;0.71;0.71;0.71;0.71;0.71 5.43|5.43 5.43|5.43 0.79202|0.79202 .|PDZ/DHR/GLGF (4); .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.78020|0.78020 0.4218|0.4218 M|M 0.93550|0.93550 3.43|3.43 0.80722|0.80722 D|D 1|1 .|D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0 .|D;D;D;D .|0.97110 .|1.0;0.997;0.999;0.998 D|D 0.84050|0.84050 0.0369|0.0369 5|10 .|0.87932 .|D .|0 .|. 18.8532|18.8532 0.92241|0.92241 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|185;180;180;463 .|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7 .|.;.;.;PZRN3_HUMAN T|H 60|463;185;120;120;180;463;161 .|ENSP00000263666:R463H;ENSP00000442026:R185H;ENSP00000418168:R120H;ENSP00000418484:R120H;ENSP00000418624:R180H;ENSP00000419250:R161H .|ENSP00000263666:R463H A|R -|- 1|2 0|0 PDZRN3|PDZRN3 73521685|73521685 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 7.638000|7.638000 0.83328|0.83328 2.547000|2.547000 0.85894|0.85894 0.655000|0.655000 0.94253|0.94253 GCA|CGC TCGA-XD-AAUL-01A-21D-A397-08 PDZRN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352460.1 0 0 0 5 305 1 93 0 1.949960e-02 0 27 1 93 3 0 0 0 0 0 2 0 0.045066 5 305 1 92 13 0 0 0 0 0 2 -2.534105 1 1 0 0 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.100000 3.000000e-02 0.220000 0.100000 0.112614 0.100000 0 0.060000 0.160000 SETD5 55209 broad.mit.edu 37 3 9490247 9490247 + Nonsense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr3:9490247C>A ENST00000406341.1 + 15 2469 c.2279C>A c.(2278-2280)tCa>tAa p.S760* SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779* Q9C0A6 SETD5_HUMAN SET domain containing 5 47 Medulloblastoma(99;0.227) CGCTTTGGCTCACCCTTTATC 0.483000 0 SO:0001587 stop_gained ENST00000406341.1 0 1 hg19 CCDS46741.1 . . . . . . . . . . C 47 13.671043 0.99756 . . ENSG00000168137 ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463 . . . 6.03 6.03 0.97812 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -11.0268 20.5568 0.99304 0.0:1.0:0.0:0.0 . . . . X 760;662;760;779;662 . ENSP00000302028:S662X S + 2 0 SETD5 9465247 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 7.487000 0.81328 2.861000 0.98227 0.655000 0.94253 TCA TCGA-XD-AAUL-01A-21D-A397-08 SETD5-001 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318425.1 1 0 1 23 155 0 29 1 9.978920e-01 15 54 0 29 2 0 0 0 0 0 2 1 1.000000 23 151 0 29 2 0 0 0 0 0 2 -12.076030 1 1 0 0 1 1 2 3 2.042405 0 0.340000 1.880000 0.341120 0.760000 5.000000e-01 1.000000 1.000000 0.771524 0.760000 0 0.620000 0.920000 STIM2 57620 broad.mit.edu 37 4 27019384 27019384 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:27019384G>A ENST00000467011.1 + 11 1966 c.1541G>A c.(1540-1542)cGt>cAt p.R514H STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H NM_001169117.1 NP_001162588 Q9P246 STIM2_HUMAN stromal interaction molecule 2 p.R601L(1) 25 Breast(46;0.0503) AGCCTGTGCCGTTCACGCCGC 0.597000 1 Substitution - Missense(1) SO:0001583 missense ENST00000467011.1 0 1 hg19 CCDS54752.1 . . . . . . . . . . G 25.4 4.637661 0.87760 . . ENSG00000109689 ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474 T;T;T;T;T;T;T;T 0.79940 -1.2;-1.22;-1.23;-1.2;-1.23;-1.18;-1.32;-1.31 5.68 5.68 0.88126 . 0.000000 0.85682 D 0.000000 D 0.87649 0.6230 L 0.46157 1.445 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.83275 0.991;0.991;0.991;0.996 D 0.87975 0.2739 10 0.72032 D 0.01 . 19.7974 0.96491 0.0:0.0:1.0:0.0 . 514;601;609;601 Q9P246;A6H8L7;E9PGD0;F5GXJ4 STIM2_HUMAN;.;.;. H 514;609;601;514;601;522;222;116 ENSP00000419073:R514H;ENSP00000371439:R609H;ENSP00000237364:R601H;ENSP00000419383:R514H;ENSP00000404812:R601H;ENSP00000417569:R522H;ENSP00000420113:R222H;ENSP00000419536:R116H ENSP00000237364:R601H R + 2 0 STIM2 26628482 1.000000 0.71417 1.000000 0.80357 0.842000 0.47809 7.877000 0.87225 2.673000 0.90976 0.650000 0.86243 CGT TCGA-XD-AAUL-01A-21D-A397-08 STIM2-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000356861.1 0 0 0 7 576 0 148 0 9.125682e-02 0 36 0 148 2 0 0 0 0 0 2 1 0.979978 7 570 0 147 2 0 0 0 0 0 2 -2.058870 0 1 0 0 1 0 1 1 2.041025 0 0.340000 1.880000 0.338876 0.070000 2.000000e-02 0.140000 0.070000 0.080049 0.070000 0 0.040000 0.110000 SORCS2 57537 broad.mit.edu 37 4 7691260 7691260 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:7691260C>T ENST00000507866.2 + 11 1645 c.1536C>T c.(1534-1536)taC>taT p.Y512Y SORCS2_ENST00000329016.9_Silent_p.Y340Y NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 42 ACAACCCCTACGTATCAGGCA 0.592000 0 SO:0001819 synonymous_variant ENST00000507866.2 1 1 hg19 CCDS47008.1 TCGA-XD-AAUL-01A-21D-A397-08 SORCS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358685.4 1 0 1 11 52 0 20 0 4.441971e-01 0 8 0 20 2 0 0 0 0 0 2 1 0.998606 10 51 0 20 2 0 0 0 0 0 2 -19.865620 1 1 120658 10 33 1 0 1 1 2.041025 0 0.340000 1.880000 0.338876 0.990000 5.600000e-01 1.000000 1.000000 0.917038 0.990000 1 0.770000 1.000000 PAQR3 152559 broad.mit.edu 37 4 79847790 79847790 + Missense_Mutation SNP G G T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr4:79847790G>T ENST00000512733.1 - 4 800 c.587C>A c.(586-588)aCg>aAg p.T196K PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 8 CCATTGCTGCGTGAGGTAATT 0.458000 0 SO:0001583 missense ENST00000512733.1 1 1 hg19 CCDS34020.1 . . . . . . . . . . G 13.32 2.200601 0.38905 . . ENSG00000163291 ENST00000512733;ENST00000380645 T;T 0.27890 1.64;1.64 5.88 5.88 0.94601 . 0.041428 0.85682 D 0.000000 T 0.29652 0.0740 L 0.42744 1.35 0.80722 D 1 B 0.02656 0.0 B 0.12156 0.007 T 0.11916 -1.0568 10 0.12766 T 0.61 -1.8795 20.2187 0.98312 0.0:0.0:1.0:0.0 . 196 Q6TCH7 PAQR3_HUMAN K 196 ENSP00000421981:T196K;ENSP00000370019:T196K ENSP00000344203:T196K T - 2 0 PAQR3 80066814 1.000000 0.71417 0.997000 0.53966 0.117000 0.20001 6.142000 0.71750 2.780000 0.95670 0.655000 0.94253 ACG TCGA-XD-AAUL-01A-21D-A397-08 PAQR3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363442.1 0 0 1 92 504 0 153 1 6.984026e-01 3 12 0 153 2 0 0 0 0 0 2 1 1.000000 91 502 0 151 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.053004 0 0.340000 1.880000 0.342236 0.900000 7.400000e-01 1.000000 1.000000 0.907689 0.900000 1 0.820000 1.000000 CDH18 1016 broad.mit.edu 37 5 19839078 19839078 + Silent SNP T T A rs148353712 TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr5:19839078T>A ENST00000507958.1 - 5 1008 c.18A>T c.(16-18)acA>acT p.T6T CDH18_ENST00000506372.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T Q13634 CAD18_HUMAN cadherin 18, type 2 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGATGCAAGATGTGCTAGTAA 0.428000 0 SO:0001819 synonymous_variant ENST00000507958.1 1 1 hg19 CCDS3889.1 TCGA-XD-AAUL-01A-21D-A397-08 CDH18-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366747.1 1 0 1 43 240 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 1.000000 43 238 0 80 2 0 0 0 0 0 2 -19.984070 1 1 0 0 1 1 2 3 2.047249 0 0.340000 1.880000 0.341120 0.890000 6.600000e-01 1.000000 1.000000 0.886663 0.890000 1 0.770000 1.000000 BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:105573335T>C ENST00000314641.5 - 4 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance p.K157R(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438000 1 Substitution - Missense(1) SO:0001583 missense ENST00000314641.5 0 1 hg19 CCDS5051.1 . . . . . . . . . . T 11.10 1.540510 0.27563 0.0 1.16E-4 ENSG00000112276 ENST00000314641;ENST00000336775;ENST00000446408 T;T;T 0.31510 1.49;1.49;1.49 5.76 3.34 0.38264 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1); 0.130282 0.64402 N 0.000002 T 0.07638 0.0192 L 0.31845 0.965 0.39124 D 0.961725 B 0.14438 0.01 B 0.13407 0.009 T 0.12528 -1.0544 10 0.13470 T 0.59 -15.0112 6.8871 0.24208 0.0:0.148:0.1607:0.6914 . 157 Q8NE79 POPD1_HUMAN R 157 ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R ENSP00000313172:K157R K - 2 0 BVES 105680028 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.676000 0.46883 1.016000 0.39470 0.533000 0.62120 AAG TCGA-XD-AAUL-01A-21D-A397-08 BVES-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406075.1 0 0 0 7 784 0 195 0 3.401753e-04 0 3 0 195 2 0 0 0 0 0 2 1 0.980380 7 781 0 194 2 0 0 0 0 0 2 -1.630750 0 1 121412 4 44 1 0 1 1 2.038517 0 0.340000 1.880000 0.338876 0.050000 1.000000e-02 0.100000 0.060000 0.059153 0.050000 0 0.030000 0.080000 HIST1H2BF 8343 broad.mit.edu 37 6 26200004 26200004 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:26200004G>A ENST00000359985.1 + 1 257 c.218G>A c.(217-219)cGc>cAc p.R73H HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 17 all_hematologic(11;0.196) ATCTTCGAGCGCATCGCTGGC 0.607000 0 SO:0001583 missense ENST00000359985.1 0 1 hg19 CCDS4592.1 . . . . . . . . . . . 16.00 2.998290 0.54147 . . ENSG00000197846 ENST00000359985 T 0.69561 -0.41 3.89 3.89 0.44902 . 0.000000 0.41938 D 0.000785 T 0.69504 0.3118 . . . 0.36868 D 0.88877 . . . . . . T 0.73363 -0.4006 7 0.49607 T 0.09 . 15.7145 0.77658 0.0:0.0:1.0:0.0 . . . . H 73 ENSP00000353074:R73H ENSP00000353074:R73H R + 2 0 HIST1H2BF 26307983 1.000000 0.71417 1.000000 0.80357 0.438000 0.31896 7.733000 0.84916 2.102000 0.63906 0.650000 0.86243 CGC TCGA-XD-AAUL-01A-21D-A397-08 HIST1H2BF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040108.1 0 0 0 7 797 0 231 0 0 0 0 231 2 0 0 0 0 0 2 1 0.980381 7 794 0 230 2 0 0 0 0 0 2 -2.134619 0 1 0 0 1 0 0 0 2.029617 0 0.340000 1.880000 0.335481 0.050000 1.000000e-02 0.100000 0.050000 0.057902 0.050000 0 0.030000 0.080000 SCAND3 0 broad.mit.edu 37 6 28543263 28543263 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr6:28543263G>A ENST00000452236.2 - 3 1836 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W SCAND3_ENST00000530247.1_5'Flank NM_052923.1 NP_443155.1 71 TTTAATGACCGCAAAAAAGTT 0.373000 0 SO:0001583 missense ENST00000452236.2 0 1 hg19 CCDS34355.1 . . . . . . . . . . G 15.12 2.739153 0.49045 . . ENSG00000232040 ENST00000452236 T 0.41065 1.01 3.45 1.47 0.22746 Integrase, catalytic core (2);Ribonuclease H-like (1); . . . . T 0.45538 0.1347 M 0.71581 2.175 0.27885 N 0.939548 D 0.89917 1.0 D 0.75020 0.985 T 0.29027 -1.0025 9 0.87932 D 0 . 9.1527 0.36973 0.0:0.0:0.3848:0.6152 . 407 Q6R2W3 SCND3_HUMAN W 407 ENSP00000395259:R407W ENSP00000395259:R407W R - 1 2 SCAND3 28651242 0.490000 0.26012 0.999000 0.59377 0.981000 0.71138 0.152000 0.16302 0.208000 0.20626 0.655000 0.94253 CGG TCGA-XD-AAUL-01A-21D-A397-08 SCAND3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000043551.3 0 0 0 5 340 0 77 0 3.478088e-04 0 2 0 77 2 0 0 0 0 0 2 1 0.935559 5 335 0 77 2 0 0 0 0 0 2 -2.441014 0 1 0 0 1 0 0 0 2.029617 0 0.340000 1.880000 0.335481 0.080000 2.000000e-02 0.190000 0.080000 0.100445 0.080000 0 0.050000 0.140000 CNPY4 245812 broad.mit.edu 37 7 99720455 99720455 + Missense_Mutation SNP G G C TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr7:99720455G>C ENST00000262932.3 + 4 523 c.391G>C c.(391-393)Gtg>Ctg p.V131L TAF6_ENST00000437822.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGAAGGGGGTGAAGGTGGA 0.557000 0 SO:0001583 missense ENST00000262932.3 0 1 hg19 CCDS34701.1 . . . . . . . . . . G 29.9 5.042190 0.93685 . . ENSG00000166997 ENST00000262932 T 0.39592 1.07 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 T 0.61751 0.2372 M 0.64567 1.98 0.58432 D 0.999999 D 0.89917 1.0 D 0.85130 0.997 T 0.60357 -0.7279 10 0.48119 T 0.1 -23.8167 15.1914 0.73047 0.0:0.0:1.0:0.0 . 131 Q8N129 CNPY4_HUMAN L 131 ENSP00000262932:V131L ENSP00000262932:V131L V + 1 0 CNPY4 99558391 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.873000 0.87193 2.654000 0.90174 0.561000 0.74099 GTG TCGA-XD-AAUL-01A-21D-A397-08 CNPY4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337224.4 1 0 1 12 70 0 20 1 9.983425e-01 6 64 0 20 2 0 0 0 0 0 2 1 0.999362 12 70 0 20 2 0 0 0 0 0 2 -19.914910 1 1 0 0 1 1 3 4 2.642274 1 0.340000 1.880000 0.493321 0.990000 6.500000e-01 1.000000 1.000000 0.956479 0.990000 1 0.880000 1.000000 CSMD1 64478 broad.mit.edu 37 8 3047451 3047451 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr8:3047451G>A ENST00000520002.1 - 35 5939 c.5384C>T c.(5383-5385)aCg>aTg p.T1795M CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) GCTGGGGATCGTGTCGTTCCA 0.592000 0 SO:0001583 missense ENST00000520002.1 0 1 hg19 . . . . . . . . . . G 16.07 3.018426 0.54576 . . ENSG00000183117 ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096 T;T;T;T;T 0.65364 -0.15;-0.15;-0.15;-0.15;-0.15 5.34 5.34 0.76211 Complement control module (2);Sushi/SCR/CCP (3); 0.064322 0.64402 D 0.000010 T 0.77618 0.4157 M 0.67397 2.05 0.58432 D 0.999994 D;P;D 0.76494 0.998;0.951;0.999 P;D;D 0.66497 0.885;0.932;0.944 T 0.77877 -0.2424 10 0.52906 T 0.07 . 19.4214 0.94723 0.0:0.0:1.0:0.0 . 1795;1795;1795 E5RIG2;Q96PZ7;Q96PZ7-4 .;CSMD1_HUMAN;. M 1795;1795;1657;1794;1794;1794 ENSP00000383047:T1795M;ENSP00000430733:T1795M;ENSP00000441462:T1794M;ENSP00000446243:T1794M;ENSP00000441675:T1794M ENSP00000320445:T1657M T - 2 0 CSMD1 3034858 1.000000 0.71417 0.951000 0.38953 0.166000 0.22503 7.369000 0.79578 2.653000 0.90120 0.544000 0.68410 ACG TCGA-XD-AAUL-01A-21D-A397-08 CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 1 0 0 3 49 0 10 0 0 0 0 10 2 0 0 0 0 0 2 1 0.812588 3 49 0 10 2 0 0 0 0 0 2 -7.431562 1 1 0 0 1 1 2 3 2.060586 0 0.340000 1.880000 0.344458 0.390000 1.100000e-01 1.000000 0.340000 0.438344 0.390000 0 0.220000 0.650000 MUSK 4593 broad.mit.edu 37 9 113431242 113431242 + Missense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:113431242G>A ENST00000374448.4 + 1 192 c.58G>A c.(58-60)Gga>Aga p.G20R MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR NM_001166281.1|NM_005592.3 NP_001159753.1|NP_005583.1 O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 49 TGCCTTCAGCGGAACTGAGAA 0.438000 0 SO:0001583 missense ENST00000374448.4 0 1 hg19 CCDS48005.1 . . . . . . . . . . G 14.31 2.497875 0.44455 . . ENSG00000030304 ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899 T 0.73469 -0.75 5.18 3.3 0.37823 . 0.381500 0.22739 N 0.056228 T 0.58452 0.2123 N 0.19112 0.55 0.80722 D 1 D;D 0.64830 0.965;0.994 B;P 0.50314 0.387;0.637 T 0.56523 -0.7965 10 0.13470 T 0.59 . 2.5396 0.04722 0.0967:0.1995:0.4509:0.2529 . 20;20 O15146;F5H6T2 MUSK_HUMAN;. R 20 ENSP00000363571:G20R ENSP00000189978:G20R G + 1 0 MUSK 112471063 0.957000 0.32711 1.000000 0.80357 0.773000 0.43773 0.060000 0.14342 1.205000 0.43262 -0.252000 0.11476 GGA TCGA-XD-AAUL-01A-21D-A397-08 MUSK-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 0 0 0 6 678 0 180 0 0 0 0 180 2 0 0 0 0 0 2 1 0.964114 6 672 0 180 2 0 0 0 0 0 2 -1.770391 0 1 120852 7 46 1 0 1 1 1.751914 1 0.340000 1.880000 0.204819 0.040000 1.000000e-02 0.090000 0.040000 0.049531 0.040000 0 0.020000 0.070000 VPS13A 23230 broad.mit.edu 37 9 80020889 80020889 + Missense_Mutation SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chr9:80020889C>T ENST00000360280.3 + 70 9645 c.9385C>T c.(9385-9387)Cgc>Tgc p.R3129C VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 104 GAGAAGATTGCGCATTGAAGC 0.343000 0 SO:0001583 missense ENST00000360280.3 0 1 hg19 CCDS6655.1 . . . . . . . . . . C 21.2 4.109496 0.77096 . . ENSG00000197969 ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646 T;T;T;T 0.72505 0.79;0.88;-0.66;-0.66 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 T 0.81489 0.4833 L 0.51422 1.61 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79784 0.94;0.993 T 0.78301 -0.2257 9 . . . . 19.9276 0.97108 0.0:1.0:0.0:0.0 . 3090;3129 Q96RL7-3;Q96RL7 .;VP13A_HUMAN C 3090;3129;65;65 ENSP00000365823:R3090C;ENSP00000353422:R3129C;ENSP00000446020:R65C;ENSP00000365834:R65C . R + 1 0 VPS13A 79210709 1.000000 0.71417 0.979000 0.43373 0.986000 0.74619 7.294000 0.78760 2.801000 0.96364 0.650000 0.86243 CGC TCGA-XD-AAUL-01A-21D-A397-08 VPS13A-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000052753.2 0 0 0 6 438 0 118 0 7.131742e-02 0 27 0 118 2 0 0 0 0 0 2 1 0.964721 6 436 0 117 2 0 0 0 0 0 2 -2.089206 0 1 121412 2 32 1 0 1 1 1.751914 1 0.340000 1.880000 0.204819 0.060000 2.000000e-02 0.140000 0.070000 0.075952 0.060000 0 0.040000 0.100000 HTR2C 3358 broad.mit.edu 37 X 114141583 114141583 + Missense_Mutation SNP T T G TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:114141583T>G ENST00000276198.1 + 6 1710 c.982T>G c.(982-984)Ttc>Gtc p.F328V HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 50 Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246) GTGCCCATTTTTCATTACCAA 0.403000 0 SO:0001583 missense ENST00000276198.1 0 1 hg19 CCDS14564.1 . . . . . . . . . . T 18.00 3.525410 0.64747 . . ENSG00000147246 ENST00000276198;ENST00000371951 T;T 0.38240 1.15;1.15 5.14 5.14 0.70334 GPCR, rhodopsin-like superfamily (1); 0.231260 0.43579 D 0.000553 T 0.70482 0.3229 H 0.96547 3.84 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.79804 -0.1649 10 0.87932 D 0 . 12.0835 0.53684 0.0:0.0:0.0:1.0 . 328 P28335 5HT2C_HUMAN V 328 ENSP00000276198:F328V;ENSP00000361019:F328V ENSP00000276198:F328V F + 1 0 HTR2C 114047839 1.000000 0.71417 0.985000 0.45067 0.632000 0.37999 7.934000 0.87649 1.827000 0.53221 0.381000 0.24937 TTC TCGA-XD-AAUL-01A-21D-A397-08 HTR2C-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057962.1 0 0 0 4 329 0 73 0 0 0 0 73 2 0 0 0 0 0 2 1 0.890980 4 329 0 72 2 0 0 0 0 0 2 -5.101446 1 1 0 0 1 0 1 1 0.340000 1.880000 0.340000 0.030000 0 0.090000 0.040000 0.043620 0.030000 0 0.010000 0.060000 LAMP2 3920 broad.mit.edu 37 X 119575595 119575595 + Silent SNP C C T TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:119575595C>T ENST00000200639.4 - 8 1219 c.1083G>A c.(1081-1083)aaG>aaA p.K361K LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000371335.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 15 CTGTAGAATACTTTCCTTGTG 0.343000 0 SO:0001819 synonymous_variant ENST00000200639.4 1 1 hg19 CCDS14599.1 TCGA-XD-AAUL-01A-21D-A397-08 LAMP2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058099.1 1 0 1 57 125 0 45 1 1 284 258 0 45 2 0 0 0 0 0 2 1 1.000000 57 123 0 45 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 0.340000 1.880000 0.340000 0.880000 7.100000e-01 0.990000 0.910000 0.882824 0.880000 1 0.800000 0.960000 CYLC1 1538 broad.mit.edu 37 X 83129622 83129622 + Missense_Mutation SNP C C A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:83129622C>A ENST00000329312.4 + 4 1943 c.1906C>A c.(1906-1908)Cca>Aca p.P636T NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 58 ACCTCCAAAACCAAGATATGC 0.383000 0 SO:0001583 missense ENST00000329312.4 1 1 hg19 CCDS35341.1 . . . . . . . . . . c 7.831 0.719819 0.15372 . . ENSG00000183035 ENST00000329312;ENST00000544771 T 0.54071 0.59 3.48 2.6 0.31112 . . . . . T 0.48223 0.1488 L 0.34521 1.04 0.20489 N 0.999899 P;D 0.62365 0.603;0.991 B;P 0.50659 0.397;0.647 T 0.32322 -0.9911 9 0.66056 D 0.02 -4.5343 8.0054 0.30321 0.0:0.7561:0.2439:0.0 . 636;636 P35663;F5H4V5 CYLC1_HUMAN;. T 636 ENSP00000331556:P636T ENSP00000331556:P636T P + 1 0 CYLC1 83016278 0.996000 0.38824 1.000000 0.80357 0.463000 0.32649 0.517000 0.22832 0.813000 0.34350 0.513000 0.50165 CCA TCGA-XD-AAUL-01A-21D-A397-08 CYLC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057371.1 1 0 1 28 104 0 17 0 0 0 0 17 2 0 0 0 0 0 2 1 1.000000 28 103 0 17 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 0.340000 1.880000 0.340000 0.610000 4.300000e-01 0.820000 0.620000 0.627049 0.610000 0 0.510000 0.730000 SATL1 340562 broad.mit.edu 37 X 84362345 84362345 + Nonsense_Mutation SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb754fc7-9cd4-4b87-82a8-0392f3d69776 6bc1f3c1-b858-474b-b078-a1120387bcd5 g.chrX:84362345G>A ENST00000395409.3 - 1 1629 c.1069C>T c.(1069-1071)Cga>Tga p.R357* SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544* Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 p.R544R(1) 29 TTAATCAGTCGCAAAATTTCT 0.458000 1 Substitution - coding silent(1) SO:0001587 stop_gained ENST00000395409.3 0 1 hg19 . . . . . . . . . . G 37 6.626167 0.97714 . . ENSG00000184788 ENST00000395409;ENST00000332921;ENST00000509231 . . . 3.54 2.63 0.31362 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -15.7275 9.2535 0.37568 0.0:0.0:0.7766:0.2234 . . . . X 357;357;544 . ENSP00000329115:R357X R - 1 2 SATL1 84249001 0.291000 0.24352 0.213000 0.23690 0.003000 0.03518 3.144000 0.50616 0.828000 0.34709 0.506000 0.49869 CGA TCGA-XD-AAUL-01A-21D-A397-08 SATL1-202 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 4 231 0 60 0 0 0 0 60 2 0 0 0 0 0 2 1 0.890128 4 230 0 58 2 0 0 0 0 0 2 -3.293818 1 1 0 0 1 0 1 1 0.340000 1.880000 0.340000 0.050000 1.000000e-02 0.120000 0.050000 0.061528 0.050000 0 0.020000 0.090000