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 ITPR2 3709 broad.mit.edu 37 12 26816711 26816712 + Frame_Shift_Del DEL AT AT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:26816711_26816712delAT ENST00000381340.3 - 15 2035_2036 c.1619_1620delAT c.(1618-1620)gatfs p.D540fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 ETV6/ITPR2(2) 125 Colorectal(261;0.0847) Caffeine(DB00201) GATCCCCCAGATCTTCAAGTCT 0.460000 0 SO:0001589 frameshift_variant ENST00000381340.3 1 1 hg19 CCDS41764.1 TCGA-F2-A8YN-01A-11D-A377-08 ITPR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402732.1 1 0 0 379 1196 0 306 0 1.463883e-01 0 3 0 306 2 0 0 0 0 1 1.000000 386 1184 0 302 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 2 2 1.831904 1 0.570000 1.800000 0.570000 0.850000 7.600000e-01 1.000000 0.840000 0.880003 0.850000 1 8.000000e-01 1 TP53 7157 broad.mit.edu 37 17 7578180 7578190 + Frame_Shift_Del DEL AGGCGGCTCAT AGGCGGCTCAT - rs121912666 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 AGGCGGCTCAT - AGGCGGCTCAT AGGCGGCTCAT Valid Somatic Phase_I WXS targeted Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:7578180_7578190delAGGCGGCTCAT ENST00000269305.4 - 6 848_858 c.659_669delATGAGCCGCCT c.(658-669)tatgagccgcctfs p.YEPP220fs TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs 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.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) ACCAGACCTCAGGCGGCTCATAGGGCACCAC 0.550000 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 418 Substitution - Missense(342)|Substitution - Nonsense(20)|Deletion - Frameshift(15)|Unknown(12)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5) GRCh37 CM015378|CM951227 TP53 M rs121912666 SO:0001589 frameshift_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 TCGA-F2-A8YN-01A-11D-A377-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 17 103 0 33 0 4.418144e-01 0 10 0 33 2 1 1 204 671 0 874 2 1 0.853362 28 114 1 33 15 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 1.568350 1 0.570000 1.800000 0.398601 0.350000 2.100000e-01 0.520000 0.350000 0.365529 0.350000 0 2.800000e-01 4.400000e-01 GPAM 57678 broad.mit.edu 37 10 113932067 113932067 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:113932067G>A ENST00000348367.4 - 9 864 c.667C>T c.(667-669)Ccg>Tcg p.P223S GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 31 AACAGAAGCGGCAAATTCGTC 0.383000 Ovarian(161;1017 2606 18293 52943) 0 SO:0001583 missense ENST00000348367.4 0 1 hg19 CCDS7570.1 . . . . . . . . . . G 29.3 4.994071 0.93167 . . ENSG00000119927 ENST00000348367;ENST00000423155;ENST00000369425 D;D;D 0.93811 -3.29;-3.29;-3.29 5.77 5.77 0.91146 Phospholipid/glycerol acyltransferase (1); 0.000000 0.85682 D 0.000000 D 0.95079 0.8406 L 0.45422 1.42 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.93359 0.6725 10 0.27785 T 0.31 -20.7866 18.2424 0.89971 0.0:0.0:1.0:0.0 . 223;223 Q5VW52;Q9HCL2 .;GPAT1_HUMAN S 223 ENSP00000265276:P223S;ENSP00000409242:P223S;ENSP00000358433:P223S ENSP00000265276:P223S P - 1 0 GPAM 113922057 1.000000 0.71417 1.000000 0.80357 0.947000 0.59692 9.414000 0.97362 2.730000 0.93505 0.650000 0.86243 CCG TCGA-F2-A8YN-01A-11D-A377-08 GPAM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050377.1 0 0 0 5 265 0 67 0 1.663804e-03 0 3 0 67 2 0 0 0 0 0 2 1 0.936269 5 262 0 66 2 0 0 0 0 67 2 -2.943335 1 1 0 0 1 1 2 3 2.160328 0 0.570000 1.800000 0.574847 0.070000 2.000000e-02 1.000000 0.060000 0.104601 0.070000 0 4.000000e-02 1.100000e-01 CHST15 51363 broad.mit.edu 37 10 125805512 125805512 + Missense_Mutation SNP G G A rs145631200 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:125805512G>A ENST00000346248.5 - 2 859 c.217C>T c.(217-219)Cgc>Tgc p.R73C CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 26 TTTTTGAAGCGCAAAAACCCA 0.453000 0 SO:0001583 missense ENST00000346248.5 0 1 hg19 CCDS7638.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 7.620 0.676663 0.14841 6.81E-4 0.0 ENSG00000182022 ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115 . . . 5.67 4.77 0.60923 . 0.253960 0.41294 N 0.000904 T 0.20740 0.0499 N 0.04508 -0.205 0.31534 N 0.660833 B;B 0.25007 0.116;0.071 B;B 0.19391 0.025;0.011 T 0.13469 -1.0508 9 0.44086 T 0.13 -28.6264 9.5674 0.39407 0.1996:0.0:0.8004:0.0 . 73;73 Q7LFX5-2;Q7LFX5 .;CHSTF_HUMAN C 73 . ENSP00000333947:R73C R - 1 0 CHST15 125795502 0.905000 0.30787 0.951000 0.38953 0.262000 0.26303 1.908000 0.39907 1.415000 0.47037 -0.219000 0.12488 CGC TCGA-F2-A8YN-01A-11D-A377-08 CHST15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050856.1 0 0 0 5 479 0 101 0 1.286366e-01 0 49 0 101 2 0 0 0 0 0 2 1 0.933630 5 467 0 101 2 0 0 0 0 101 2 -2.460406 0 1 121412 10 43 1 1 2 3 2.145887 0 0.570000 1.800000 0.572437 0.030000 0 0.090000 0.040000 0.052544 0.030000 0 1.000000e-02 6.000000e-02 GPR123 84435 broad.mit.edu 37 10 134884542 134884542 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:134884542G>A ENST00000607359.1 + 1 110 c.110G>A c.(109-111)cGg>cAg p.R37Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) CGAGGGGGCCGGACACCACAG 0.657000 0 SO:0001583 missense ENST00000607359.1 0 1 hg19 . . . . . . . . . . G 1.282 -0.610161 0.03690 3.2E-4 0.0 ENSG00000197177 ENST00000368577;ENST00000392609 . . . 1.69 -3.13 0.05266 . . . . . T 0.19644 0.0472 . . . . . . B 0.10296 0.003 B 0.01281 0.0 T 0.30794 -0.9966 6 0.87932 D 0 . 0.0954 0.00043 0.244:0.2044:0.2626:0.289 . 37 Q86SQ6-1 . Q 37 . ENSP00000357566:R37Q R + 2 0 GPR123 134734532 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.884000 0.04166 -0.645000 0.05458 -0.657000 0.03884 CGG TCGA-F2-A8YN-01A-11D-A377-08 GPR123-004 PUTATIVE basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000316904.2 0 0 0 4 200 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 0.888885 4 198 0 20 2 0 0 0 0 21 2 -5.691391 1 1 118850 3 37 1 1 2 3 2.145887 0 0.570000 1.800000 0.572437 0.070000 2.000000e-02 0.190000 0.070000 0.094266 0.070000 0 4.000000e-02 1.200000e-01 TMEM45B 120224 broad.mit.edu 37 11 129722430 129722430 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:129722430G>A ENST00000524567.1 + 2 334 c.53G>A c.(52-54)gGg>gAg p.G18E TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E Q96B21 TM45B_HUMAN transmembrane protein 45B 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) CTGATCATTGGGCTGTGTTGG 0.507000 0 SO:0001583 missense ENST00000524567.1 1 1 hg19 CCDS8482.1 . . . . . . . . . . G 25.4 4.632180 0.87660 . . ENSG00000151715 ENST00000281441;ENST00000524567 T;T 0.61980 0.06;0.06 5.64 5.64 0.86602 . 0.000000 0.85682 D 0.000000 D 0.83571 0.5283 M 0.90309 3.105 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.86602 0.1867 10 0.87932 D 0 -16.7256 18.2812 0.90098 0.0:0.0:1.0:0.0 . 18 Q96B21 TM45B_HUMAN E 18 ENSP00000281441:G18E;ENSP00000436293:G18E ENSP00000281441:G18E G + 2 0 TMEM45B 129227640 1.000000 0.71417 0.823000 0.32752 0.573000 0.36030 9.317000 0.96327 2.653000 0.90120 0.655000 0.94253 GGG TCGA-F2-A8YN-01A-11D-A377-08 TMEM45B-002 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000386062.1 1 0 1 146 359 0 68 1 1 80 127 0 68 2 0 0 0 0 0 2 1 1.000000 145 354 0 68 2 0 0 0 0 68 2 -9.143872 1 1 0 0 1 0 0 0 2.115968 0 0.570000 1.800000 0.570000 0.990000 8.700000e-01 1.000000 1.000000 0.978987 0.990000 1 9.300000e-01 1 LGR4 55366 broad.mit.edu 37 11 27389696 27389696 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:27389696G>A ENST00000379214.4 - 18 3017 c.2574C>T c.(2572-2574)tgC>tgT p.C858C LGR4_ENST00000389858.4_Silent_p.C834C NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 p.C858C(1) 32 CGCAGCAGTCGCAAACAGTCA 0.458000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000379214.4 0 1 hg19 CCDS31449.1 TCGA-F2-A8YN-01A-11D-A377-08 LGR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257467.1 0 0 0 6 830 0 196 0 1.078171e-01 0 65 0 196 2 0 0 0 0 0 2 1 0.963846 6 822 0 194 2 0 0 0 0 196 2 -2.033128 0 1 0 0 1 1 2 3 2.130168 0 0.570000 1.800000 0.571222 0.020000 0 0.060000 0.020000 0.028207 0.020000 0 0 4.000000e-02 SLC22A10 387775 broad.mit.edu 37 11 63057849 63057849 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:63057849C>T ENST00000332793.6 + 1 214 c.212C>T c.(211-213)gCc>gTc p.A71V SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 28 Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936) AGTGAAGATGCCCTCTTGAGA 0.493000 0 SO:0001583 missense ENST00000332793.6 0 1 hg19 CCDS41661.1 . . . . . . . . . . C 5.138 0.211114 0.09757 . . ENSG00000184999 ENST00000332793;ENST00000526800 T;T 0.66815 2.48;-0.23 2.89 -0.723 0.11181 . 1.274800 0.05599 N 0.575951 T 0.53465 0.1798 L 0.41710 1.295 0.09310 N 1 B;B 0.19706 0.009;0.038 B;B 0.19946 0.012;0.027 T 0.29701 -1.0003 10 0.30078 T 0.28 . 4.2839 0.10846 0.4005:0.4704:0.0:0.1291 . 19;71 E9PJB1;Q63ZE4 .;S22AA_HUMAN V 71;19 ENSP00000327569:A71V;ENSP00000433908:A19V ENSP00000327569:A71V A + 2 0 SLC22A10 62814425 0.005000 0.15991 0.185000 0.23176 0.176000 0.22953 -0.169000 0.09911 -0.259000 0.09432 0.579000 0.79373 GCC TCGA-F2-A8YN-01A-11D-A377-08 SLC22A10-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382622.3 0 0 0 5 428 0 83 0 0 0 0 83 2 0 0 0 0 0 2 1 0.936349 5 424 0 82 2 0 0 0 0 83 2 -2.287875 0 1 121408 1 38 1 1 2 3 2.130168 0 0.570000 1.800000 0.571222 0.040000 0 0.100000 0.040000 0.048266 0.040000 0 2.000000e-02 7.000000e-02 GPR137 56834 broad.mit.edu 37 11 64054047 64054047 + Silent SNP G G C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:64054047G>C ENST00000313074.3 + 1 156 c.51G>C c.(49-51)gcG>gcC p.A17A GPR137_ENST00000438980.2_Silent_p.A17A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.A75A|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.A17A NM_020155.3 NP_064540.3 Q96N19 G137A_HUMAN G protein-coupled receptor 137 10 TGGTGCCTGCGCTGCCACCTG 0.632000 0 SO:0001819 synonymous_variant ENST00000313074.3 0 1 hg19 CCDS8066.1 TCGA-F2-A8YN-01A-11D-A377-08 GPR137-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000396412.1 0 0 0 5 381 0 55 0 1.801997e-01 0 49 0 55 2 0 0 0 0 0 2 1 0.936642 5 378 0 53 2 0 0 0 0 55 2 -3.148492 1 1 0 0 1 1 2 3 2.130168 0 0.570000 1.800000 0.571222 0.040000 0 0.110000 0.040000 0.054217 0.040000 0 2.000000e-02 8.000000e-02 SYT9 143425 broad.mit.edu 37 11 7437383 7437383 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:7437383A>G ENST00000318881.6 + 4 1392 c.1155A>G c.(1153-1155)acA>acG p.T385T NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 38 TGGACATAACAGGAGCATCAG 0.408000 0 SO:0001819 synonymous_variant ENST00000318881.6 1 1 hg19 CCDS7778.1 TCGA-F2-A8YN-01A-11D-A377-08 SYT9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384483.1 1 0 1 67 301 0 82 0 0 0 0 82 2 0 0 0 0 0 2 1 1.000000 66 300 0 82 2 0 0 0 0 82 2 -20.000000 1 1 0 0 1 1 2 3 2.130168 0 0.570000 1.800000 0.571222 0.630000 5.000000e-01 0.790000 0.640000 0.645377 0.630000 0 5.600000e-01 7.200000e-01 DENND5A 23258 broad.mit.edu 37 11 9187392 9187392 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:9187392G>A ENST00000328194.3 - 11 2594 c.2274C>T c.(2272-2274)tgC>tgT p.C758C DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 39 CCTTATTGCGGCATTCCTTCA 0.498000 0 SO:0001819 synonymous_variant ENST00000328194.3 0 1 hg19 CCDS31423.1 TCGA-F2-A8YN-01A-11D-A377-08 DENND5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385910.2 0 0 0 5 484 0 72 0 8.364080e-02 0 38 0 72 2 0 0 0 0 0 2 1 0.936144 6 479 0 71 2 0 0 0 0 72 2 -1.755958 0 1 0 0 1 1 2 3 2.130168 0 0.570000 1.800000 0.571222 0.030000 0 0.090000 0.040000 0.042593 0.030000 0 1.000000e-02 6.000000e-02 ALDH1L2 160428 broad.mit.edu 37 12 105464556 105464556 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:105464556G>A ENST00000258494.9 - 3 360 c.220C>T c.(220-222)Cct>Tct p.P74S RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 35 TTGAACACAGGGGTCCCATCT 0.413000 0 SO:0001583 missense ENST00000258494.9 1 1 hg19 CCDS31891.1 . . . . . . . . . . G 31 5.066278 0.93898 . . ENSG00000136010 ENST00000258494;ENST00000424857 T;T 0.80738 -1.41;-1.41 5.48 5.48 0.80851 Formyl transferase, N-terminal (3); 0.000000 0.85682 D 0.000000 D 0.91375 0.7279 M 0.89287 3.02 0.80722 D 1 D 0.63046 0.992 D 0.67900 0.954 D 0.92391 0.5921 10 0.87932 D 0 . 19.7157 0.96119 0.0:0.0:1.0:0.0 . 74 Q3SY69 AL1L2_HUMAN S 74 ENSP00000258494:P74S;ENSP00000389608:P74S ENSP00000258494:P74S P - 1 0 ALDH1L2 103988686 1.000000 0.71417 0.999000 0.59377 0.988000 0.76386 7.782000 0.85680 2.749000 0.94314 0.655000 0.94253 CCT TCGA-F2-A8YN-01A-11D-A377-08 ALDH1L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406098.1 1 0 1 116 201 0 76 0 3.054641e-01 0 3 0 76 2 0 0 0 0 0 2 1 1.000000 115 199 0 73 2 0 0 0 0 76 2 -14.061870 1 1 0 0 1 0 2 2 1.832909 1 0.570000 1.800000 0.570000 0.990000 9.900000e-01 1.000000 1.000000 0.999983 0.990000 1 9.900000e-01 1 TAS2R8 50836 broad.mit.edu 37 12 10959184 10959184 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:10959184C>T ENST00000240615.2 - 1 708 c.396G>A c.(394-396)tgG>tgA p.W132* NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 14 CCAGCAGGATCCAGTGCACCA 0.413000 0 SO:0001587 stop_gained ENST00000240615.2 0 1 hg19 CCDS8632.1 . . . . . . . . . . C 34 5.342008 0.95783 . . ENSG00000121314 ENST00000240615 . . . 4.47 0.811 0.18739 . 0.924044 0.08834 U 0.886839 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.33141 T 0.24 . 4.9053 0.13795 0.1496:0.6025:0.147:0.1009 . . . . X 132 . ENSP00000240615:W132X W - 3 0 TAS2R8 10850451 0.000000 0.05858 0.000000 0.03702 0.319000 0.28217 -0.151000 0.10175 0.280000 0.22209 0.557000 0.71058 TGG TCGA-F2-A8YN-01A-11D-A377-08 TAS2R8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399932.1 1 0 0 12 227 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 0.999164 12 226 0 110 2 0 0 0 0 111 2 -14.456550 1 1 0 0 1 0 2 2 1.831904 1 0.570000 1.800000 0.570000 0.190000 9.000000e-02 1.000000 0.180000 0.371560 0.190000 0 1.400000e-01 1 GRIN2B 2904 broad.mit.edu 37 12 13716777 13716777 + Missense_Mutation SNP A A T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:13716777A>T ENST00000609686.1 - 13 3604 c.3395T>A c.(3394-3396)tTc>tAc p.F1132Y NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 143 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) GTCCAGGTAGAAGTCCCGTAG 0.597000 0 SO:0001583 missense ENST00000609686.1 0 1 hg19 CCDS8662.1 . . . . . . . . . . A 18.66 3.671252 0.67814 . . ENSG00000150086 ENST00000279593 T 0.20463 2.07 5.52 5.52 0.82312 Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.44265 0.1285 M 0.65975 2.015 0.80722 D 1 D 0.71674 0.998 D 0.74023 0.982 T 0.23619 -1.0183 10 0.35671 T 0.21 . 15.6766 0.77332 1.0:0.0:0.0:0.0 . 1132 Q13224 NMDE2_HUMAN Y 1132 ENSP00000279593:F1132Y ENSP00000279593:F1132Y F - 2 0 GRIN2B 13608044 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 8.869000 0.92326 2.099000 0.63709 0.533000 0.62120 TTC TCGA-F2-A8YN-01A-11D-A377-08 GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268014.2 0 0 0 6 185 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.964562 6 183 0 35 2 0 0 0 0 35 2 -8.555849 1 1 0 0 1 0 2 2 1.831904 1 0.570000 1.800000 0.570000 0.130000 4.000000e-02 1.000000 0.110000 0.323603 0.130000 0 8.000000e-02 1 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b 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-F2-A8YN-01A-11D-A377-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 72 132 0 53 1 9.999185e-01 26 4 0 53 2 1 1 76 171 0 309 2 1 1.000000 69 131 0 53 2 1 1 2839 5174 0 53 2 -20.000000 1 1 0 0 1 0 2 2 1.831904 1 0.570000 1.800000 0.570000 0.990000 9.900000e-01 1.000000 1.000000 0.999472 0.990000 1 9.900000e-01 1 NALCN 259232 broad.mit.edu 37 13 101736104 101736104 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:101736104G>A ENST00000251127.6 - 31 3622 c.3541C>T c.(3541-3543)Cga>Tga p.R1181* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCTTCAGTCGGCTCTTCAGG 0.512000 0 SO:0001587 stop_gained ENST00000251127.6 0 1 hg19 CCDS9498.1 . . . . . . . . . . G 41 9.100694 0.99066 . . ENSG00000102452 ENST00000251127 . . . 5.2 1.64 0.23874 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 . 12.6363 0.56685 0.0:0.0:0.5839:0.4161 . . . . X 1181 . ENSP00000251127:R1181X R - 1 2 NALCN 100534105 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 1.610000 0.36869 0.389000 0.25086 0.650000 0.86243 CGA TCGA-F2-A8YN-01A-11D-A377-08 NALCN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045663.2 1 0 1 54 159 0 29 0 8.448390e-01 0 12 0 29 2 0 0 0 0 0 2 1 1.000000 52 155 0 29 2 0 0 0 0 29 2 -4.672652 1 1 0 0 1 1 2 3 2.164290 0 0.570000 1.800000 0.574847 0.900000 7.000000e-01 1.000000 1.000000 0.896669 0.900000 1 7.900000e-01 1 ATP12A 479 broad.mit.edu 37 13 25255720 25255720 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:25255720C>T ENST00000381946.3 + 2 197 c.30C>T c.(28-30)tcC>tcT p.S10S ATP12A_ENST00000218548.6_Silent_p.S10S P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 74 Lung SC(185;0.0225)|Breast(139;0.077) AAATTTACTCCGTGGAGCTCA 0.522000 Pancreas(156;1582 1935 18898 22665 26498) 0 SO:0001819 synonymous_variant ENST00000381946.3 1 1 hg19 CCDS31948.1 TCGA-F2-A8YN-01A-11D-A377-08 ATP12A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044199.1 1 0 1 91 245 0 53 0 0 0 0 53 2 0 0 0 1 0 0 2 1 1.000000 89 243 0 53 2 0 0 0 0 53 2 -5.806668 1 1 0 0 1 0 0 0 2.106250 0 0.570000 1.800000 0.567535 0.930000 7.800000e-01 1.000000 1.000000 0.933399 0.930000 1 8.500000e-01 1 TRPC4 7223 broad.mit.edu 37 13 38211315 38211315 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:38211315C>G ENST00000379705.3 - 11 3516 c.2659G>C c.(2659-2661)Gaa>Caa p.E887Q TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 83 CCTCGAGATTCCAGTTGAATA 0.458000 0 SO:0001583 missense ENST00000379705.3 1 1 hg19 CCDS9365.1 . . . . . . . . . . C 19.11 3.764029 0.69878 . . ENSG00000133107 ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043 T;T;T;T;T;T;T;T 0.75938 -0.47;-0.47;-0.29;-0.29;-0.65;-0.63;-0.98;-0.65 5.3 5.3 0.74995 . 2.243490 0.01788 N 0.032140 T 0.81654 0.4868 N 0.19112 0.55 0.80722 D 1 B;D;P;B;D;B 0.69078 0.435;0.989;0.908;0.264;0.997;0.013 B;D;D;B;D;B 0.78314 0.093;0.979;0.922;0.082;0.991;0.005 T 0.67526 -0.5648 10 0.59425 D 0.04 -18.9881 14.8849 0.70560 0.0:0.8568:0.1431:0.0 . 746;738;892;714;803;887 Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4 .;.;.;.;.;TRPC4_HUMAN Q 887;892;714;714;746;803;738;746 ENSP00000369027:E887Q;ENSP00000369003:E892Q;ENSP00000342580:E714Q;ENSP00000369001:E714Q;ENSP00000348025:E746Q;ENSP00000351264:E803Q;ENSP00000368995:E738Q;ENSP00000414316:E746Q ENSP00000342580:E714Q E - 1 0 TRPC4 37109315 1.000000 0.71417 0.990000 0.47175 0.981000 0.71138 4.328000 0.59253 2.618000 0.88619 0.563000 0.77884 GAA TCGA-F2-A8YN-01A-11D-A377-08 TRPC4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044574.2 1 0 1 96 278 0 101 0 1.652689e-01 0 3 0 101 2 0 0 0 0 0 2 1 1.000000 96 273 0 101 2 0 0 0 0 101 2 -20.000000 1 1 0 0 1 0 0 0 2.106250 0 0.570000 1.800000 0.567535 0.890000 7.400000e-01 1.000000 1.000000 0.894230 0.890000 1 8.100000e-01 9.700000e-01 OR11H12 440153 broad.mit.edu 37 14 19377838 19377838 + Missense_Mutation SNP C C A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:19377838C>A ENST00000550708.1 + 1 317 c.245C>A c.(244-246)tCc>tAc p.S82Y NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 p.S82F(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GGAAATTTCTCCTTTTTAGAG 0.423000 1 Substitution - Missense(1) SO:0001583 missense ENST00000550708.1 1 1 hg19 CCDS32017.1 . . . . . . . . . . c 10.05 1.243398 0.22796 . . ENSG00000257115 ENST00000550708 T 0.12361 2.69 0.585 0.585 0.17428 GPCR, rhodopsin-like superfamily (1); 0.171384 0.27447 N 0.019339 T 0.48572 0.1507 H 0.98936 4.375 0.24804 N 0.992688 D 0.89917 1.0 D 0.83275 0.996 T 0.63541 -0.6614 9 0.87932 D 0 . 7.1009 0.25336 0.0:0.9999:0.0:1.0E-4 . 82 B2RN74 O11HC_HUMAN Y 82 ENSP00000449002:S82Y ENSP00000449002:S82Y S + 2 0 CR383656.1 18447838 0.178000 0.23122 0.997000 0.53966 0.280000 0.26924 1.272000 0.33109 0.619000 0.30197 0.064000 0.15345 TCC TCGA-F2-A8YN-01A-11D-A377-08 OR11H12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408402.1 1 0 0 181 532 2 181 0 0 0 2 181 2 0 0 0 0 0 2 1 1.000000 138 385 2 346 10 0 0 0 2 181 2 -6.986018 1 1 0 0 1 0.570000 1.800000 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816760 23816760 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:23816760G>A ENST00000206544.8 - 7 1461 c.1125C>T c.(1123-1125)acC>acT p.T375T SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T NM_020372.2 NP_065105.2 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 15 all_cancers(95;7.12e-06) AAGCAATGCCGGTAAGGGTCA 0.622000 0 SO:0001819 synonymous_variant ENST00000206544.8 0 1 hg19 CCDS9593.1 TCGA-F2-A8YN-01A-11D-A377-08 SLC22A17-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000157223.3 0 0 0 4 181 0 32 0 1.146921e-01 0 21 0 32 2 0 0 0 0 0 2 1 0.887395 4 178 0 32 2 0 0 0 0 32 2 -3.479808 1 1 121412 4 36 1 0 0 0 2.124084 0 0.570000 1.800000 0.570000 0.080000 2.000000e-02 0.180000 0.080000 0.093399 0.080000 0 4.000000e-02 1.300000e-01 NYNRIN 57523 broad.mit.edu 37 14 24886290 24886290 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:24886290G>A ENST00000382554.3 + 9 5653 c.5335G>A c.(5335-5337)Gca>Aca p.A1779T NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 56 GATGAGCAGCGCAAACATTGA 0.617000 0 SO:0001583 missense ENST00000382554.3 0 1 hg19 CCDS45090.1 . . . . . . . . . . G 18.51 3.640226 0.67244 . . ENSG00000205978 ENST00000382554 T 0.10192 2.9 5.08 5.08 0.68730 . . . . . T 0.20251 0.0487 N 0.24115 0.695 0.22842 N 0.998664 D 0.89917 1.0 D 0.76575 0.988 T 0.11036 -1.0604 9 0.46703 T 0.11 . 13.8328 0.63391 0.0:0.0:1.0:0.0 . 1779 Q9P2P1 NYNRI_HUMAN T 1779 ENSP00000371994:A1779T ENSP00000371994:A1779T A + 1 0 NYNRIN 23956130 0.890000 0.30428 0.748000 0.31131 0.644000 0.38419 1.278000 0.33179 2.640000 0.89533 0.655000 0.94253 GCA TCGA-F2-A8YN-01A-11D-A377-08 NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412939.1 0 0 0 5 339 0 47 0 4.515580e-01 0 92 0 47 2 0 0 0 0 0 2 1 0.936051 5 335 0 45 2 0 0 0 0 47 2 -3.173342 1 1 121008 7 39 1 0 0 0 2.124084 0 0.570000 1.800000 0.570000 0.050000 1.000000e-02 0.110000 0.060000 0.060654 0.050000 0 3.000000e-02 8.000000e-02 CFL2 1073 broad.mit.edu 37 14 35182567 35182567 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:35182567G>A ENST00000341223.3 - 2 355 c.204C>T c.(202-204)taC>taT p.Y68Y CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) CAAAAGATGTGTAGGGGTCCT 0.398000 0 SO:0001819 synonymous_variant ENST00000341223.3 0 1 hg19 CCDS9650.1 TCGA-F2-A8YN-01A-11D-A377-08 CFL2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276639.1 0 0 0 8 622 0 132 0 1.784049e-02 0 14 0 132 2 0 0 0 0 0 2 1 0.988792 7 614 0 131 2 0 0 0 0 132 2 -3.076856 1 1 0 0 1 0 0 0 2.124084 0 0.570000 1.800000 0.570000 0.040000 1.000000e-02 0.090000 0.040000 0.050031 0.040000 0 2.000000e-02 7.000000e-02 ZFP36L1 677 broad.mit.edu 37 14 69256429 69256429 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:69256429G>A ENST00000439696.2 - 2 1139 c.838C>T c.(838-840)Cgg>Tgg p.R280W ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 21 GACATGGGCCGGAAGAGGAAG 0.632000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000439696.2 0 1 hg19 CCDS9791.1 . . . . . . . . . . G 16.23 3.065008 0.55432 . . ENSG00000185650 ENST00000439696;ENST00000336440;ENST00000435246 T;T 0.36157 1.27;1.27 4.38 2.55 0.30701 . 0.000000 0.85682 D 0.000000 T 0.48978 0.1530 M 0.61703 1.905 0.80722 D 1 D 0.89917 1.0 D 0.74348 0.983 T 0.38045 -0.9679 10 0.39692 T 0.17 -6.8806 5.803 0.18424 0.1757:0.0:0.6325:0.1918 . 280 Q07352 TISB_HUMAN W 280;280;263 ENSP00000388402:R280W;ENSP00000337386:R280W ENSP00000337386:R280W R - 1 2 ZFP36L1 68326182 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.012000 0.49575 0.487000 0.27698 0.591000 0.81541 CGG TCGA-F2-A8YN-01A-11D-A377-08 ZFP36L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413227.1 0 0 0 6 577 0 111 0 9.637938e-01 1 576 0 111 2 0 0 0 0 0 2 1 0.961376 6 558 0 109 2 0 0 0 0 111 2 -2.038417 0 1 0 0 1 0 0 0 2.124084 0 0.570000 1.800000 0.570000 0.030000 0 0.080000 0.040000 0.041673 0.030000 0 1.000000e-02 6.000000e-02 ATP10A 57194 broad.mit.edu 37 15 25947218 25947218 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:25947218C>G ENST00000356865.6 - 13 2716 c.2605G>C c.(2605-2607)Gac>Cac p.D869H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) GGGACTCCGTCCTGCAGGCGG 0.527000 0 SO:0001583 missense ENST00000356865.6 1 1 hg19 CCDS32178.1 . . . . . . . . . . C 26.9 4.783540 0.90282 . . ENSG00000206190 ENST00000356865 T 0.68025 -0.3 5.31 5.31 0.75309 HAD-like domain (2); 0.273464 0.45867 D 0.000325 D 0.83422 0.5251 M 0.85197 2.74 0.80722 D 1 D 0.61080 0.989 D 0.64877 0.93 D 0.86242 0.1644 10 0.87932 D 0 -8.5174 18.9799 0.92751 0.0:1.0:0.0:0.0 . 869 O60312 AT10A_HUMAN H 869 ENSP00000349325:D869H ENSP00000349325:D869H D - 1 0 ATP10A 23498311 1.000000 0.71417 0.995000 0.50966 0.898000 0.52572 7.561000 0.82288 2.485000 0.83878 0.561000 0.74099 GAC TCGA-F2-A8YN-01A-11D-A377-08 ATP10A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414830.1 1 0 0 16 362 0 75 0 9.963460e-02 0 12 0 75 2 0 0 0 0 0 2 1 0.999931 15 359 0 75 2 0 0 0 0 75 2 -16.394990 1 1 121412 1 31 1 0 0 0 1.960555 0 0.570000 1.800000 0.535587 0.130000 7.000000e-02 0.210000 0.140000 0.145005 0.130000 0 1.000000e-01 1.800000e-01 ONECUT1 3175 broad.mit.edu 37 15 53081647 53081647 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:53081647C>T ENST00000305901.5 - 1 562 c.435G>A c.(433-435)gtG>gtA p.V145V ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 17 AGCTACCGCTCACGTTGCCCG 0.642000 0 SO:0001819 synonymous_variant ENST00000305901.5 1 1 hg19 CCDS10150.1 TCGA-F2-A8YN-01A-11D-A377-08 ONECUT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254849.2 1 0 0 30 171 0 41 0 0 0 1 0 41 2 0 0 0 0 0 2 1 1.000000 30 170 0 41 2 0 0 0 0 41 2 -20.000000 1 1 0 0 1 0 1 1 1.661031 1 0.570000 1.800000 0.468512 0.420000 2.900000e-01 0.570000 0.420000 0.431073 0.420000 0 3.500000e-01 5.000000e-01 HERC1 8925 broad.mit.edu 37 15 64025227 64025227 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:64025227C>T ENST00000443617.2 - 14 2851 c.2764G>A c.(2764-2766)Gga>Aga p.G922R NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 p.G922*(2) 132 GACAGATTTCCGTAGCCAGTA 0.458000 2 Substitution - Nonsense(2) SO:0001583 missense ENST00000443617.2 1 1 hg19 CCDS45277.1 . . . . . . . . . . C 16.78 3.217516 0.58560 . . ENSG00000103657 ENST00000443617 T 0.22743 1.94 5.67 5.67 0.87782 . 0.312879 0.26400 U 0.024596 T 0.09291 0.0229 N 0.08118 0 0.40185 D 0.97733 P 0.43633 0.813 B 0.27608 0.081 T 0.32508 -0.9904 10 0.16420 T 0.52 . 17.9412 0.89027 0.0:1.0:0.0:0.0 . 922 Q15751 HERC1_HUMAN R 922 ENSP00000390158:G922R ENSP00000390158:G922R G - 1 0 HERC1 61812280 1.000000 0.71417 0.991000 0.47740 0.992000 0.81027 2.592000 0.46171 2.658000 0.90341 0.655000 0.94253 GGA TCGA-F2-A8YN-01A-11D-A377-08 HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418523.1 1 0 1 94 179 0 41 0 0 0 1 0 41 2 0 0 0 0 0 2 1 1.000000 92 177 0 41 2 0 0 0 0 41 2 -10.217710 1 1 120858 1 35 1 0 1 1 1.661031 1 0.570000 1.800000 0.468512 0.960000 8.100000e-01 1.000000 1.000000 0.954535 0.960000 1 8.900000e-01 1 RBBP6 5930 broad.mit.edu 37 16 24580170 24580170 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:24580170G>T ENST00000319715.4 + 17 2591 c.2159G>T c.(2158-2160)aGc>aTc p.S720I RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 46 CGATCATTCAGCCGCTCACAT 0.438000 0 SO:0001583 missense ENST00000319715.4 1 1 hg19 CCDS10621.1 . . . . . . . . . . G 14.31 2.497395 0.44455 . . ENSG00000122257 ENST00000319715;ENST00000348022 T;T 0.25414 1.95;1.8 5.98 5.98 0.97165 . 0.000000 0.64402 D 0.000001 T 0.44603 0.1301 L 0.34521 1.04 0.40089 D 0.976239 D;D 0.89917 1.0;0.999 D;D 0.87578 0.998;0.996 T 0.31724 -0.9933 10 0.72032 D 0.01 -12.372 20.4581 0.99154 0.0:0.0:1.0:0.0 . 686;720 Q7Z6E9-2;Q7Z6E9 .;RBBP6_HUMAN I 720;686 ENSP00000317872:S720I;ENSP00000316291:S686I ENSP00000317872:S720I S + 2 0 RBBP6 24487671 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.911000 0.69939 2.835000 0.97688 0.650000 0.86243 AGC TCGA-F2-A8YN-01A-11D-A377-08 RBBP6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214067.2 1 0 0 29 458 0 91 0 1.448108e-01 0 11 0 91 2 0 0 0 0 0 2 1 1.000000 29 454 0 90 2 0 0 0 0 91 2 -3.075742 1 1 0 0 1 1 2 3 2.132556 0 0.570000 1.800000 0.571222 0.200000 1.400000e-01 0.300000 0.210000 0.215543 0.200000 0 1.700000e-01 2.500000e-01 KCTD19 146212 broad.mit.edu 37 16 67333359 67333359 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:67333359G>A ENST00000304372.5 - 6 948 c.893C>T c.(892-894)cCg>cTg p.P298L KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 23 Ovarian(137;0.192) CGCAGAGTCCGGGTACTTGAC 0.622000 0 SO:0001583 missense ENST00000304372.5 1 1 hg19 CCDS42179.1 . . . . . . . . . . G 29.9 5.044864 0.93685 . . ENSG00000168676 ENST00000304372 T 0.63913 -0.07 5.77 5.77 0.91146 . 0.000000 0.64402 D 0.000005 T 0.75250 0.3824 L 0.50333 1.59 0.53688 D 0.999976 D 0.89917 1.0 D 0.79108 0.992 T 0.75977 -0.3127 10 0.87932 D 0 -15.5417 17.0645 0.86556 0.0:0.0:1.0:0.0 . 298 Q17RG1 KCD19_HUMAN L 298 ENSP00000305702:P298L ENSP00000305702:P298L P - 2 0 KCTD19 65890860 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.859000 0.69539 2.884000 0.98904 0.655000 0.94253 CCG TCGA-F2-A8YN-01A-11D-A377-08 KCTD19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000422061.1 0 0 1 137 415 1 81 0 0 0 1 81 2 0 0 0 0 0 2 1 1.000000 134 409 1 78 22 0 0 0 1 81 2 -5.025225 1 1 120994 2 36 1 1 2 3 2.128165 0 0.570000 1.800000 0.571222 0.860000 7.400000e-01 1.000000 0.870000 0.874520 0.860000 1 8.000000e-01 9.400000e-01 HYDIN 54768 broad.mit.edu 37 16 71101253 71101253 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:71101253G>T ENST00000393567.2 - 15 2165 c.2015C>A c.(2014-2016)gCa>gAa p.A672E HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein p.A672E(3) 43 Ovarian(137;0.0654) CACCACGAGTGCCAGCTCGTA 0.532000 3 Substitution - Missense(3) SO:0001583 missense ENST00000393567.2 1 1 hg19 CCDS59269.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.09|16.09 3.024197|3.024197 0.54683|0.54683 .|. .|. ENSG00000157423|ENSG00000157423 ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890 T;T;T;T;T;T;T;T|. 0.06371|. 3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31|. 4.99|4.99 4.99|4.99 0.66335|0.66335 .|. 0.000000|. 0.32703|. U|. 0.005751|. T|T 0.67822|0.67822 0.2934|0.2934 L|L 0.48642|0.48642 1.525|1.525 0.47994|0.47994 D|D 0.99956|0.99956 P;P;B;P;D|. 0.89917|. 0.875;0.875;0.34;0.875;1.0|. P;P;B;P;D|. 0.87578|. 0.729;0.729;0.108;0.547;0.998|. T|T 0.65413|0.65413 -0.6174|-0.6174 10|5 0.06365|. T|. 0.9|. .|. 17.1332|17.1332 0.86732|0.86732 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 699;689;689;672;672|. B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|. .;.;.;.;.|. E|N 672;672;672;672;672;699;689;689;687|74 ENSP00000377197:A672E;ENSP00000398544:A672E;ENSP00000394826:A672E;ENSP00000314736:A672E;ENSP00000444970:A699E;ENSP00000437341:A689E;ENSP00000288168:A689E;ENSP00000377181:A687E|. ENSP00000288168:A689E|. A|H -|- 2|1 0|0 HYDIN|HYDIN 69658754|69658754 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.864000|0.864000 0.49448|0.49448 6.181000|6.181000 0.71988|0.71988 2.332000|2.332000 0.79248|0.79248 0.603000|0.603000 0.83216|0.83216 GCA|CAC TCGA-F2-A8YN-01A-11D-A377-08 HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 1 0 1 96 226 0 42 0 0 0 0 42 2 0 0 0 0 0 2 1 1.000000 94 222 0 42 2 0 0 0 0 42 2 -20.000000 1 0 0 0 1 1 2 3 2.128165 0 0.570000 1.800000 0.571222 0.990000 8.700000e-01 1.000000 1.000000 0.984429 0.990000 1 9.500000e-01 1 MYH13 8735 broad.mit.edu 37 17 10209864 10209864 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:10209864G>A ENST00000418404.3 - 36 5541 c.5378C>T c.(5377-5379)aCg>aTg p.T1793M RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 108 GTCCTTCACCGTCTGCTCCAG 0.552000 0 SO:0001583 missense ENST00000418404.3 1 1 hg19 CCDS45613.1 . . . . . . . . . . G 19.19 3.779373 0.70107 . . ENSG00000006788 ENST00000252172 T 0.78246 -1.16 4.22 4.22 0.49857 Myosin tail (1); . . . . D 0.86648 0.5983 H 0.95850 3.73 0.38306 D 0.943117 B 0.30193 0.272 B 0.39617 0.305 D 0.89946 0.4076 9 0.72032 D 0.01 . 12.7179 0.57125 0.0831:0.0:0.9169:0.0 . 1793 Q9UKX3 MYH13_HUMAN M 1793 ENSP00000252172:T1793M ENSP00000252172:T1793M T - 2 0 MYH13 10150589 1.000000 0.71417 0.995000 0.50966 0.988000 0.76386 6.439000 0.73430 2.347000 0.79759 0.491000 0.48974 ACG TCGA-F2-A8YN-01A-11D-A377-08 MYH13-003 KNOWN alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442255.1 1 0 1 210 318 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 207 312 0 100 2 0 0 0 0 101 2 -20.000000 1 1 121412 5 43 1 0 1 1 1.568350 1 0.570000 1.800000 0.398601 0.960000 8.700000e-01 1.000000 0.990000 0.958698 0.960000 1 9.100000e-01 9.900000e-01 KCNJ12 3768 broad.mit.edu 37 17 21319451 21319451 + Missense_Mutation SNP C C T rs144590967 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:21319451C>T ENST00000583088.1 + 3 1692 c.797C>T c.(796-798)tCg>tTg p.S266L KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 70 Dofetilide(DB00204)|Yohimbine(DB01392) TTTCTGGTGTCGCCCATCACC 0.607000 Prostate(3;0.18) 0 SO:0001583 missense ENST00000583088.1 1 1 hg19 CCDS11219.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 26.4 4.736363 0.89482 4.54E-4 1.16E-4 ENSG00000184185 ENST00000331718 D 0.90385 -2.66 5.43 5.43 0.79202 Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1); 0.000000 0.85682 D 0.000000 D 0.93677 0.7980 L 0.45744 1.44 0.80722 D 1 D 0.76494 0.999 D 0.70016 0.967 D 0.93754 0.7061 10 0.56958 D 0.05 . 19.2333 0.93849 0.0:1.0:0.0:0.0 . 266 Q14500 IRK12_HUMAN L 266 ENSP00000328150:S266L ENSP00000328150:S266L S + 2 0 KCNJ12 21260044 1.000000 0.71417 0.935000 0.37517 0.924000 0.55760 7.680000 0.84062 2.554000 0.86153 0.655000 0.94253 TCG TCGA-F2-A8YN-01A-11D-A377-08 KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255060.2 0 0 0 51 172 0 57 0 5.372110e-02 0 2 0 57 2 0 0 0 0 0 2 1 1.000000 50 161 0 56 2 0 0 0 0 57 2 -20.000000 1 1 121412 14 37 1 0 1 1 1.564479 1 0.570000 1.800000 0.403358 0.570000 4.400000e-01 0.710000 0.580000 0.580567 0.570000 0 5.000000e-01 6.500000e-01 KRT26 353288 broad.mit.edu 37 17 38926251 38926251 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:38926251G>A ENST00000335552.4 - 4 853 c.805C>T c.(805-807)Cag>Tag p.Q269* NM_181539.4 NP_853517.2 keratin 26 16 Breast(137;0.00526) TTGCGGTTCTGCTCAGCCAAG 0.522000 0 SO:0001587 stop_gained ENST00000335552.4 0 1 hg19 CCDS11374.1 . . . . . . . . . . G 28.1 4.886500 0.91814 . . ENSG00000186393 ENST00000335552 . . . 5.0 4.01 0.46588 . 0.113960 0.39834 N 0.001254 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 9.2179 0.37360 0.0:0.1394:0.5984:0.2622 . . . . X 269 . ENSP00000334798:Q269X Q - 1 0 KRT26 36179777 0.996000 0.38824 1.000000 0.80357 0.883000 0.51084 2.338000 0.43957 1.206000 0.43276 0.655000 0.94253 CAG TCGA-F2-A8YN-01A-11D-A377-08 KRT26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257215.1 1 0 0 237 343 0 184 0 0 0 0 184 2 0 0 0 0 0 2 1 1.000000 237 337 0 183 2 0 0 0 0 184 2 -20.000000 1 1 0 0 1 0 1 1 1.563752 1 0.570000 1.800000 0.398601 0.970000 8.900000e-01 1.000000 0.990000 0.969975 0.970000 1 9.300000e-01 1 ZZEF1 23140 broad.mit.edu 37 17 3936124 3936124 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:3936124G>A ENST00000381638.2 - 41 6881 c.6757C>T c.(6757-6759)Cag>Tag p.Q2253* NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 84 TGTGGTACCTGGGGGAAGCCA 0.537000 0 SO:0001587 stop_gained ENST00000381638.2 0 1 hg19 CCDS11043.1 . . . . . . . . . . G 37 6.573202 0.97676 . . ENSG00000074755 ENST00000381638 . . . 5.39 4.34 0.51931 . 0.170785 0.51477 D 0.000097 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.28530 T 0.3 -14.6073 12.3702 0.55250 0.0:0.3496:0.6504:0.0 . . . . X 2253 . ENSP00000371051:Q2253X Q - 1 0 ZZEF1 3882873 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 5.327000 0.65881 2.683000 0.91414 0.591000 0.81541 CAG TCGA-F2-A8YN-01A-11D-A377-08 ZZEF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207480.1 0 0 0 4 116 0 19 0 9.155342e-02 0 12 0 19 2 0 0 0 0 0 2 1 0.887646 4 114 0 17 2 0 0 0 0 19 2 -2.960540 1 1 0 0 1 0 1 1 1.568350 1 0.570000 1.800000 0.398601 0.080000 2.000000e-02 0.190000 0.080000 0.101528 0.080000 0 5.000000e-02 1.400000e-01 NPEPPS 9520 broad.mit.edu 37 17 45669380 45669380 + Missense_Mutation SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:45669380A>G ENST00000322157.4 + 11 1556 c.1319A>G c.(1318-1320)aAa>aGa p.K440R NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 27 TCATATAGCAAAGGTGCATCT 0.378000 0 SO:0001583 missense ENST00000322157.4 0 1 hg19 CCDS45721.1 . . . . . . . . . . A 28.0 4.881700 0.91740 . . ENSG00000141279 ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360 T;T;T;T;T 0.17854 2.25;2.25;2.25;2.25;2.25 5.51 5.51 0.81932 Peptidase M1, membrane alanine aminopeptidase, N-terminal (2); 0.000000 0.85682 D 0.000000 T 0.52451 0.1735 M 0.92077 3.27 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;0.999 T 0.65261 -0.6211 10 0.87932 D 0 . 15.6257 0.76855 1.0:0.0:0.0:0.0 . 440;436;440 A6NEC2;E9PLK3;P55786 PSAL_HUMAN;.;PSA_HUMAN R 436;440;427;360;123;137 ENSP00000433287:K436R;ENSP00000320324:K440R;ENSP00000442461:K360R;ENSP00000435639:K123R;ENSP00000435966:K137R ENSP00000320324:K440R K + 2 0 NPEPPS 43024379 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.112000 0.94314 2.099000 0.63709 0.528000 0.53228 AAA TCGA-F2-A8YN-01A-11D-A377-08 NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384269.1 0 0 0 26 146 1 34 0 4.983010e-01 1 16 1 34 3 0 0 0 0 0 2 1 0.976139 17 115 1 46 11 0 0 0 1 34 2 -2.624685 1 1 120856 48 34 1 0.570000 1.800000 0 0 SAMD14 201191 broad.mit.edu 37 17 48191617 48191617 + Silent SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:48191617G>T ENST00000330175.4 - 8 1193 c.876C>A c.(874-876)ccC>ccA p.P292P SAMD14_ENST00000503131.1_Silent_p.P320P|SAMD14_ENST00000503734.1_5'Flank NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 15 AGGGCCCACTGGGGATCTTGG 0.597000 0 SO:0001819 synonymous_variant ENST00000330175.4 1 1 hg19 CCDS58562.1 TCGA-F2-A8YN-01A-11D-A377-08 SAMD14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366661.1 1 0 0 7 155 0 28 0 3.395714e-02 0 6 0 28 2 0 0 0 0 0 2 1 0.980479 7 153 0 27 2 0 0 0 0 28 2 -3.276866 1 1 0 0 1 0 1 1 1.558390 1 0.570000 1.800000 0.400989 0.110000 4.000000e-02 0.210000 0.110000 0.121738 0.110000 0 7.000000e-02 1.600000e-01 L3MBTL4 91133 broad.mit.edu 37 18 5969486 5969486 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:5969486C>T ENST00000284898.6 - 18 1747 c.1547G>A c.(1546-1548)cGg>cAg p.R516Q L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 39 Colorectal(10;0.0249) GGGAAGGTCCCGAAAAGGGTG 0.607000 Esophageal Squamous(41;748 902 17366 28959 43175) 0 SO:0001583 missense ENST00000284898.6 1 1 hg19 CCDS11839.2 . . . . . . . . . . C 17.80 3.479138 0.63849 2.37E-4 0.0 ENSG00000154655 ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782 T;T;T;T 0.15718 2.4;2.49;2.4;2.49 5.53 2.8 0.32819 . 0.165870 0.39985 N 0.001214 T 0.31263 0.0791 M 0.66939 2.045 0.31034 N 0.717072 D;D 0.76494 0.989;0.999 P;D 0.67382 0.772;0.951 T 0.22312 -1.0220 10 0.20519 T 0.43 . 8.205 0.31449 0.0:0.77:0.0:0.23 . 516;507 Q8NA19;F8W9S8 LMBL4_HUMAN;. Q 516;507;516;320 ENSP00000382976:R516Q;ENSP00000318543:R507Q;ENSP00000284898:R516Q;ENSP00000444774:R320Q ENSP00000284898:R516Q R - 2 0 L3MBTL4 5959486 0.001000 0.12720 0.480000 0.27341 0.672000 0.39443 0.433000 0.21477 0.301000 0.22738 0.655000 0.94253 CGG TCGA-F2-A8YN-01A-11D-A377-08 L3MBTL4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254448.2 1 0 0 18 314 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 0.999982 18 311 0 37 2 0 0 0 0 39 2 -2.403998 0 1 121118 5 40 1 1 2 3 2.144104 0 0.570000 1.800000 0.572437 0.190000 1.100000e-01 0.310000 0.190000 0.208123 0.190000 0 1.500000e-01 2.500000e-01 CPAMD8 27151 broad.mit.edu 37 19 17010311 17010311 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:17010311C>T ENST00000443236.1 - 37 4995 c.4964G>A c.(4963-4965)cGc>cAc p.R1655H CPAMD8_ENST00000597335.1_5'Flank NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 82 GAGCACTCGGCGTCCAGCCAC 0.577000 0 SO:0001583 missense ENST00000443236.1 1 1 hg19 CCDS42519.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 23.0|23.0 4.367865|4.367865 0.82463|0.82463 2.39E-4|2.39E-4 2.37E-4|2.37E-4 ENSG00000160111|ENSG00000160111 ENST00000443236|ENST00000291440 .|. .|. .|. 2.88|2.88 2.88|2.88 0.33553|0.33553 .|Alpha-macroglobulin, receptor-binding (3); .|0.000000 .|0.64402 .|U .|0.000006 T|T 0.75547|0.75547 0.3864|0.3864 M|M 0.67953|0.67953 2.075|2.075 0.80722|0.80722 D|D 1|1 .|D .|0.89917 .|1.0 .|D .|0.80764 .|0.994 T|T 0.79198|0.79198 -0.1902|-0.1902 5|9 .|0.66056 .|D .|0.02 .|. 14.1052|14.1052 0.65085|0.65085 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|1608 .|Q8IZJ3 .|CPMD8_HUMAN T|H 1666|1655 .|. .|ENSP00000291440:R1655H A|R -|- 1|2 0|0 CPAMD8|CPAMD8 16871311|16871311 1.000000|1.000000 0.71417|0.71417 0.995000|0.995000 0.50966|0.50966 0.983000|0.983000 0.72400|0.72400 5.548000|5.548000 0.67255|0.67255 1.364000|1.364000 0.46038|0.46038 0.543000|0.543000 0.68304|0.68304 GCC|CGC TCGA-F2-A8YN-01A-11D-A377-08 CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257531.2 1 0 1 71 196 0 31 0 0 0 1 0 31 2 0 0 0 0 0 2 1 1.000000 71 193 0 31 2 0 0 0 0 31 2 -3.076006 1 1 121006 18 44 1 1 2 3 2.129852 0 0.570000 1.800000 0.571222 0.930000 7.500000e-01 1.000000 1.000000 0.923825 0.930000 1 8.300000e-01 1 CPAMD8 27151 broad.mit.edu 37 19 17057923 17057923 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:17057923C>T ENST00000443236.1 - 21 2795 c.2764G>A c.(2764-2766)Gtt>Att p.V922I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 82 AAGGACAGAACGACCCAGATG 0.597000 0 SO:0001583 missense ENST00000443236.1 1 1 hg19 CCDS42519.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 C 11.25 1.582552 0.28180 . . ENSG00000160111 ENST00000291440 . . . 3.46 1.2 0.21068 . 0.085942 0.47093 N 0.000245 T 0.26629 0.0651 L 0.48877 1.53 0.80722 D 1 P 0.44429 0.835 B 0.25405 0.06 T 0.13124 -1.0521 9 0.17369 T 0.5 . 7.8366 0.29374 0.0:0.7433:0.1633:0.0935 . 875 Q8IZJ3 CPMD8_HUMAN I 922 . ENSP00000291440:V922I V - 1 0 CPAMD8 16918923 0.997000 0.39634 0.018000 0.16275 0.076000 0.17211 4.779000 0.62375 0.036000 0.15547 0.491000 0.48974 GTT TCGA-F2-A8YN-01A-11D-A377-08 CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257531.2 1 0 1 239 517 0 95 0 0 0 0 95 2 0 0 0 0 0 2 1 1.000000 230 508 0 92 2 0 0 0 0 95 2 -20.000000 1 1 120904 7 43 1 1 2 3 2.129852 0 0.570000 1.800000 0.571222 0.990000 9.900000e-01 1.000000 1.000000 0.999392 0.990000 1 9.900000e-01 1 ZNF536 9745 broad.mit.edu 37 19 30935392 30935392 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:30935392C>T ENST00000355537.3 + 2 1070 c.923C>T c.(922-924)gCg>gTg p.A308V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 182 Esophageal squamous(110;0.0834) TGCGACTTCGCGGCTTCGCAG 0.642000 0 SO:0001583 missense ENST00000355537.3 0 1 hg19 CCDS32984.1 . . . . . . . . . . C 14.91 2.675111 0.47781 . . ENSG00000198597 ENST00000355537 T 0.29142 1.58 5.59 5.59 0.84812 Zinc finger, C2H2-like (1); 0.000000 0.85682 D 0.000000 T 0.48943 0.1528 L 0.35644 1.08 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.43442 -0.9391 10 0.56958 D 0.05 -25.2974 19.5661 0.95393 0.0:1.0:0.0:0.0 . 308;308 A7E228;O15090 .;ZN536_HUMAN V 308 ENSP00000347730:A308V ENSP00000347730:A308V A + 2 0 ZNF536 35627232 1.000000 0.71417 0.962000 0.40283 0.740000 0.42216 7.788000 0.85771 2.631000 0.89168 0.491000 0.48974 GCG TCGA-F2-A8YN-01A-11D-A377-08 ZNF536-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459667.2 0 0 0 5 640 0 104 0 0 0 0 104 2 0 0 0 0 0 2 1 0.935689 5 632 0 102 2 0 0 0 0 104 2 -2.504271 1 1 0 0 1 1 2 3 2.129852 0 0.570000 1.800000 0.571222 0.020000 0 0.070000 0.020000 0.031809 0.020000 0 1.000000e-02 5.000000e-02 CYP2A7 1549 broad.mit.edu 37 19 41383142 41383142 + Missense_Mutation SNP G G A rs151290022 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:41383142G>A ENST00000301146.4 - 7 1655 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TTAACCCTGCGGGCCAAACTC 0.547000 0 SO:0001583 missense ENST00000301146.4 1 1 hg19 CCDS12569.1 . . . . . . . . . . G 15.37 2.813432 0.50527 2.27E-4 0.0 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.81078 -1.45;-1.45 2.29 2.29 0.28610 . 0.199062 0.42821 U 0.000649 D 0.90003 0.6879 M 0.89658 3.05 0.09310 N 1 D;D;D 0.89917 1.0;0.999;1.0 D;P;D 0.91635 0.996;0.88;0.999 T 0.81795 -0.0769 10 0.87932 D 0 . 11.6888 0.51503 0.0:0.0:1.0:0.0 . 372;321;372 B7ZKR0;F8W816;P20853 .;.;CP2A7_HUMAN C 372;321 ENSP00000301146:R372C;ENSP00000291764:R321C ENSP00000291764:R321C R - 1 0 CYP2A7 46074982 0.722000 0.28017 0.002000 0.10522 0.219000 0.24729 4.340000 0.59328 1.280000 0.44463 0.184000 0.17185 CGC TCGA-F2-A8YN-01A-11D-A377-08 CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463269.2 1 0 1 119 316 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 1.000000 117 309 0 79 2 0 0 0 0 80 2 -6.298770 1 1 121358 1 36 1 0.570000 1.800000 0 0 DENND2C 163259 broad.mit.edu 37 1 115130471 115130471 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:115130471C>T ENST00000393274.1 - 19 3159 c.2534G>A c.(2533-2535)cGt>cAt p.R845H DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) TTGGAAAACACGCTCCCCACG 0.478000 0 SO:0001583 missense ENST00000393274.1 0 1 hg19 CCDS58018.1 . . . . . . . . . . C 28.2 4.902121 0.92035 . . ENSG00000175984 ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277 T;T;T 0.48201 0.82;0.82;0.82 5.9 5.9 0.94986 dDENN (3); 0.000000 0.85682 D 0.000000 T 0.60470 0.2271 M 0.79123 2.44 0.27020 N 0.964491 D;P 0.89917 1.0;0.952 D;P 0.75484 0.986;0.629 T 0.59989 -0.7350 10 0.87932 D 0 . 13.5289 0.61611 0.0:0.929:0.0:0.071 . 845;788 Q68D51;Q68D51-3 DEN2C_HUMAN;. H 788;845;845;733 ENSP00000376957:R788H;ENSP00000376955:R845H;ENSP00000376958:R733H ENSP00000358553:R845H R - 2 0 DENND2C 114931994 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 4.847000 0.62867 2.817000 0.96982 0.551000 0.68910 CGT TCGA-F2-A8YN-01A-11D-A377-08 DENND2C-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000314822.1 0 0 0 5 310 0 51 0 4.166419e-04 0 2 0 51 2 0 0 0 0 0 2 1 0.934271 4 304 0 50 2 0 0 0 0 51 2 -5.237607 1 0 121412 1 33 1 1 2 3 2.150538 0 0.570000 1.800000 0.572437 0.050000 1.000000e-02 0.140000 0.060000 0.075758 0.050000 0 3.000000e-02 1.000000e-01 GBA 2629 broad.mit.edu 37 1 155210420 155210420 + Splice_Site SNP C C T rs104886460 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155210420C>T ENST00000327247.5 - 3 348 c.e3+1 GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000428024.3_Intron|GBA_ENST00000368373.3_Splice_Site NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Velaglucerase alfa(DB06720) GACTCACTCACCTGATGCCCA 0.527000 Gaucher disease type I 0 GRCh37 CS920754|CS982204 GBA S rs104886460 SO:0001630 splice_region_variant Familial Cancer Database glucocerebrosidase insufficiency ENST00000327247.5 0 1 hg19 CCDS1102.1 . . . . . . . . . . C 20.8 4.045608 0.75846 . . ENSG00000177628 ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928 . . . 3.62 3.62 0.41486 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 10.9121 0.47114 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . GBA 153477044 1.000000 0.71417 0.857000 0.33713 0.875000 0.50365 2.207000 0.42788 2.024000 0.59613 0.591000 0.81541 . TCGA-F2-A8YN-01A-11D-A377-08 GBA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087204.1 0 0 0 8 789 0 93 0 0 0 1 0 93 2 0 0 0 0 0 2 1 0.988600 7 776 0 93 2 0 0 0 0 93 2 -6.003074 1 1 121412 14 43 1 0.570000 1.800000 0 0 PKLR 5313 broad.mit.edu 37 1 155262971 155262971 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155262971C>T ENST00000342741.4 - 9 1471 c.1433G>A c.(1432-1434)gGc>gAc p.G478D PKLR_ENST00000392414.3_Missense_Mutation_p.G447D NM_000298.5 NP_000289.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCCTCACCGGCCAGTTGTGGT 0.607000 0 SO:0001583 missense ENST00000342741.4 0 1 hg19 CCDS1109.1 . . . . . . . . . . C 24.4 4.527546 0.85706 . . ENSG00000143627 ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946 D;D 0.99842 -7.1;-7.1 4.54 4.54 0.55810 Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1); 0.000000 0.85682 D 0.000000 D 0.99887 0.9946 H 0.98965 4.385 0.80722 D 1 P;P 0.42993 0.797;0.797 P;P 0.56474 0.799;0.799 D 0.95923 0.8932 10 0.87932 D 0 . 12.9735 0.58525 0.0:1.0:0.0:0.0 . 478;469 P30613;B1AVT1 KPYR_HUMAN;. D 503;447;478;392 ENSP00000376214:G447D;ENSP00000339933:G478D ENSP00000271946:G392D G - 2 0 PKLR 153529595 1.000000 0.71417 1.000000 0.80357 0.957000 0.61999 7.601000 0.82783 2.530000 0.85305 0.561000 0.74099 GGC TCGA-F2-A8YN-01A-11D-A377-08 PKLR-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000087407.2 0 0 0 10 353 0 59 0 0 0 1 0 59 2 0 0 0 0 0 2 1 0.996759 9 349 0 59 2 0 0 0 0 59 2 -3.495797 1 1 0 0 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.090000 4.000000e-02 0.170000 0.100000 0.104919 0.090000 0 6.000000e-02 1.400000e-01 ASH1L 55870 broad.mit.edu 37 1 155408246 155408246 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155408246A>G ENST00000368346.3 - 5 6339 c.5700T>C c.(5698-5700)gtT>gtC p.V1900V ASH1L_ENST00000392403.3_Silent_p.V1900V Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CACTCTGAACAACAGCCTCAA 0.453000 0 SO:0001819 synonymous_variant ENST00000368346.3 1 1 hg19 TCGA-F2-A8YN-01A-11D-A377-08 ASH1L-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000039400.1 1 0 1 107 267 0 121 1 7.158190e-01 6 2 0 121 2 0 0 0 0 0 2 1 1.000000 106 264 0 116 2 0 0 0 0 121 2 -20.000000 1 1 0 0 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.990000 8.300000e-01 1.000000 1.000000 0.967516 0.990000 1 9.100000e-01 1 ARHGEF11 9826 broad.mit.edu 37 1 156926239 156926239 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:156926239C>T ENST00000361409.2 - 18 2266 c.1524G>A c.(1522-1524)tgG>tgA p.W508* ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.W548* NM_014784.3 NP_055599.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGAACGGTAGCCACTTGTCCT 0.552000 0 SO:0001587 stop_gained ENST00000361409.2 0 1 hg19 CCDS1162.1 . . . . . . . . . . C 45 11.401996 0.99556 . . ENSG00000132694 ENST00000368194;ENST00000361409 . . . 4.82 4.82 0.62117 . 0.131135 0.35739 N 0.003012 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.39692 T 0.17 -11.8078 17.6896 0.88266 0.0:1.0:0.0:0.0 . . . . X 548;508 . ENSP00000354644:W508X W - 3 0 ARHGEF11 155192863 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.463000 0.66712 2.502000 0.84385 0.585000 0.79938 TGG TCGA-F2-A8YN-01A-11D-A377-08 ARHGEF11-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000098931.1 0 0 0 15 625 0 93 0 1.300840e-01 0 25 0 93 2 0 0 0 0 0 2 1 0.999863 15 619 0 93 2 0 0 0 0 93 2 -2.714682 1 1 0 0 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.070000 4.000000e-02 0.130000 0.080000 0.086847 0.070000 0 5.000000e-02 1.100000e-01 OR10X1 128367 broad.mit.edu 37 1 158548759 158548759 + Nonsense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:158548759T>A ENST00000368150.1 - 1 930 c.931A>T c.(931-933)Aaa>Taa p.K311* NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 37 all_hematologic(112;0.0378) AAAGCATTTTTCATGTCCTTA 0.438000 0 SO:0001587 stop_gained ENST00000368150.1 0 1 hg19 CCDS30900.1 . . . . . . . . . . T 14.29 2.490702 0.44249 . . ENSG00000186400 ENST00000368150 . . . 4.5 3.29 0.37713 . 0.000000 0.51477 D 0.000097 . . . . . . 0.46458 D 0.99905 . . . . . . . . . . 0.02654 T 1 . 9.3298 0.38014 0.0:0.0:0.1795:0.8205 . . . . X 311 . ENSP00000357132:K311X K - 1 0 OR10X1 156815383 0.876000 0.30132 0.997000 0.53966 0.423000 0.31445 2.291000 0.43540 2.001000 0.58596 0.460000 0.39030 AAA TCGA-F2-A8YN-01A-11D-A377-08 OR10X1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051850.2 1 0 0 42 556 0 129 0 0 0 0 129 2 0 0 0 0 0 2 1 1.000000 41 548 0 127 2 0 0 0 0 129 2 -9.667746 1 1 0 0 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.240000 1.700000e-01 0.320000 0.240000 0.249713 0.240000 0 2.000000e-01 2.900000e-01 SPTA1 6708 broad.mit.edu 37 1 158612287 158612287 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:158612287G>A ENST00000368147.4 - 33 4831 c.4651C>T c.(4651-4653)Cga>Tga p.R1551* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 307 all_hematologic(112;0.0378) TGCTCAGATCGGCCATCGACT 0.438000 0 SO:0001587 stop_gained ENST00000368147.4 0 1 hg19 CCDS41423.1 . . . . . . . . . . G 44 11.051605 0.99508 . . ENSG00000163554 ENST00000368148;ENST00000368147 . . . 5.26 3.36 0.38483 . 0.337334 0.16870 N 0.196178 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.37606 T 0.19 . 6.5799 0.22588 0.083:0.0:0.4906:0.4264 . . . . X 1551 . ENSP00000357129:R1551X R - 1 2 SPTA1 156878911 1.000000 0.71417 0.002000 0.10522 0.001000 0.01503 3.911000 0.56378 0.768000 0.33290 -0.136000 0.14681 CGA TCGA-F2-A8YN-01A-11D-A377-08 SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 0 0 0 11 465 0 79 0 0 0 0 79 2 0 0 0 0 0 2 1 0.998312 10 463 0 79 2 0 0 0 0 79 2 -2.727305 1 1 120858 12 41 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.070000 3.000000e-02 0.140000 0.080000 0.087444 0.070000 0 5.000000e-02 1.100000e-01 OLFML2B 25903 broad.mit.edu 37 1 161953664 161953664 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:161953664G>A ENST00000294794.3 - 8 2477 c.2054C>T c.(2053-2055)gCc>gTc p.A685V OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B p.A685V(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTATCCACGGCATACAGCAC 0.562000 2 Substitution - Missense(2) SO:0001583 missense ENST00000294794.3 0 1 hg19 CCDS1236.1 . . . . . . . . . . G 20.5 4.009105 0.75046 . . ENSG00000162745 ENST00000294794;ENST00000367940;ENST00000367938 D;D;D 0.87179 -2.22;-2.22;-2.22 5.36 5.36 0.76844 Olfactomedin-like (3); . . . . D 0.88709 0.6510 L 0.46741 1.465 0.44373 D 0.997279 D;P 0.89917 1.0;0.917 D;P 0.87578 0.998;0.817 D 0.86127 0.1572 8 0.25106 T 0.35 . 16.5695 0.84607 0.0:0.0:1.0:0.0 . 686;685 F2Z3N3;Q68BL8 .;OLM2B_HUMAN V 685;686;168 ENSP00000294794:A685V;ENSP00000356917:A686V;ENSP00000356915:A168V ENSP00000294794:A685V A - 2 0 OLFML2B 160220288 1.000000 0.71417 0.766000 0.31476 0.396000 0.30629 9.726000 0.98782 2.491000 0.84063 0.561000 0.74099 GCC TCGA-F2-A8YN-01A-11D-A377-08 OLFML2B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000060552.2 0 0 0 6 646 0 118 1 5.403903e-01 2 177 0 118 2 0 0 0 0 0 2 1 0.964760 6 644 0 117 2 0 0 0 0 118 2 -1.930734 0 1 0 0 1 0 0 0 2.108658 0 0.570000 1.800000 0.567535 0.030000 0 0.070000 0.040000 0.036814 0.030000 0 1.000000e-02 5.000000e-02 TAS1R2 80834 broad.mit.edu 37 1 19181067 19181067 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:19181067G>A ENST00000375371.3 - 3 918 c.897C>T c.(895-897)atC>atT p.I299I RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) Aspartame(DB00168) ACTCGGAGGCGATCCACACGG 0.642000 0 SO:0001819 synonymous_variant ENST00000375371.3 1 1 hg19 CCDS187.1 TCGA-F2-A8YN-01A-11D-A377-08 TAS1R2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000006953.1 1 0 1 33 97 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 31 96 0 27 2 0 0 0 0 27 2 -20.000000 1 1 121412 4 35 1 1 2 3 2.195803 0 0.570000 1.800000 0.578411 0.910000 6.600000e-01 1.000000 1.000000 0.899554 0.910000 1 7.800000e-01 1 MAP7D1 55700 broad.mit.edu 37 1 36638181 36638181 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:36638181C>T ENST00000373151.2 + 4 793 c.577C>T c.(577-579)Cgt>Tgt p.R193C MAP7D1_ENST00000316156.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C NM_018067.3 NP_060537.3 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 19 Myeloproliferative disorder(586;0.0393) CGAGCAACGCCGTGCAGCCCT 0.627000 0 SO:0001583 missense ENST00000373151.2 1 1 hg19 CCDS30673.1 . . . . . . . . . . C 20.5 4.006474 0.74932 . . ENSG00000116871 ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151 T;T;T;T 0.12774 2.65;2.65;2.65;2.65 5.41 2.07 0.26955 . 0.000000 0.36167 N 0.002748 T 0.35278 0.0926 M 0.73962 2.25 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.997;0.998 T 0.21861 -1.0233 10 0.87932 D 0 -9.3369 13.1246 0.59346 0.5338:0.4662:0.0:0.0 . 193;193;193 Q3KQU3-2;Q3KQU3-4;Q3KQU3 .;.;MA7D1_HUMAN C 154;193;193;193 ENSP00000390091:R154C;ENSP00000320228:R193C;ENSP00000362243:R193C;ENSP00000362244:R193C ENSP00000320228:R193C R + 1 0 MAP7D1 36410768 0.998000 0.40836 0.921000 0.36526 0.840000 0.47671 1.949000 0.40313 0.590000 0.29694 0.655000 0.94253 CGT TCGA-F2-A8YN-01A-11D-A377-08 MAP7D1-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000382095.1 1 0 1 34 81 0 14 1 1 59 121 0 14 2 0 0 0 0 0 2 1 1.000000 34 79 0 14 2 0 0 0 0 14 2 -20.000000 1 1 0 0 1 1 2 3 2.150538 0 0.570000 1.800000 0.572437 0.990000 7.600000e-01 1.000000 1.000000 0.963032 0.990000 1 8.900000e-01 1 GRIK3 2899 broad.mit.edu 37 1 37346245 37346245 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:37346245G>A ENST00000373091.3 - 3 556 c.540C>T c.(538-540)gaC>gaT p.D180D GRIK3_ENST00000373093.4_Silent_p.D180D NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 p.D180D(2) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) CTGTACTGTCGTCATAGACCA 0.612000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000373091.3 1 1 hg19 CCDS416.1 TCGA-F2-A8YN-01A-11D-A377-08 GRIK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012053.1 0 0 0 31 1116 0 127 0 0 0 0 127 2 0 0 0 0 0 2 1 1.000000 30 1096 0 122 2 0 0 0 0 127 2 -2.721959 1 1 121412 2 43 1 1 2 3 2.150538 0 0.570000 1.800000 0.572437 0.090000 5.000000e-02 0.140000 0.100000 0.107040 0.090000 0 7.000000e-02 1.200000e-01 AGBL4 84871 broad.mit.edu 37 1 49511348 49511348 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:49511348G>A ENST00000371839.1 - 5 618 c.502C>T c.(502-504)Cca>Tca p.P168S AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 15 TATGTATATGGGTAGCAGTAA 0.458000 0 SO:0001583 missense ENST00000371839.1 1 1 hg19 CCDS44137.1 . . . . . . . . . . G 27.8 4.863043 0.91511 . . ENSG00000186094 ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836 T;T;T 0.29142 1.58;1.58;1.58 5.6 5.6 0.85130 . 0.000000 0.85682 D 0.000000 T 0.71787 0.3381 H 0.97611 4.04 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.998;1.0;1.0 T 0.82526 -0.0413 9 . . . -8.6338 18.6038 0.91259 0.0:0.0:1.0:0.0 . 180;13;168 Q5VU57-2;B1AMW2;Q5VU57 .;.;CBPC6_HUMAN S 168;162;168;168 ENSP00000360905:P168S;ENSP00000360904:P168S;ENSP00000360902:P168S . P - 1 0 AGBL4 49283935 1.000000 0.71417 0.997000 0.53966 0.964000 0.63967 9.444000 0.97578 2.640000 0.89533 0.563000 0.77884 CCA TCGA-F2-A8YN-01A-11D-A377-08 AGBL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021346.4 1 0 1 13 42 0 12 0 0 0 1 0 12 2 0 0 0 0 0 2 1 0.999720 13 41 0 12 2 0 0 0 0 12 2 -20.000000 1 1 0 0 1 1 2 3 2.150538 0 0.570000 1.800000 0.572437 0.840000 4.900000e-01 1.000000 1.000000 0.828232 0.840000 0 6.500000e-01 1 WDR63 126820 broad.mit.edu 37 1 85575766 85575766 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:85575766C>T ENST00000294664.6 + 16 1914 c.1734C>T c.(1732-1734)caC>caT p.H578H WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 36 GTTTAGACCACTGTCCAACCA 0.388000 0 SO:0001819 synonymous_variant ENST00000294664.6 1 1 hg19 CCDS702.1 TCGA-F2-A8YN-01A-11D-A377-08 WDR63-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027565.2 1 0 1 137 381 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 1.000000 136 379 0 89 2 0 0 0 0 89 2 -20.000000 1 1 121412 1 36 1 1 2 3 2.150538 0 0.570000 1.800000 0.572437 0.920000 7.900000e-01 1.000000 1.000000 0.929255 0.920000 1 8.600000e-01 1 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 0 SO:0001583 missense ENST00000374114.3 0 1 hg19 CCDS13261.1 . . . . . . . . . . G 36 5.653504 0.96724 . . ENSG00000244462 ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942 T;T;T 0.22336 1.96;1.96;1.96 4.03 4.03 0.46877 . 0.000000 0.64402 D 0.000018 T 0.27663 0.0680 N 0.19112 0.55 0.80722 D 1 D 0.63880 0.993 D 0.70227 0.968 T 0.02365 -1.1170 10 0.19590 T 0.45 -3.377 14.4866 0.67622 0.0:0.0:1.0:0.0 . 693 Q9NTZ6 RBM12_HUMAN S 693;693;693;492 ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S ENSP00000339879:P492S P - 1 0 RBM12 33704582 0.002000 0.14202 0.997000 0.53966 0.903000 0.53119 -0.160000 0.10041 2.528000 0.85240 0.563000 0.77884 CCC TCGA-F2-A8YN-01A-11D-A377-08 RBM12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078894.1 0 0 0 6 673 0 144 0 1.181322e-01 0 56 0 144 2 0 0 0 0 0 2 1 0.963443 6 663 0 143 2 0 0 0 0 144 2 -2.172839 0 1 0 0 1 0 0 0 2.121183 0 0.570000 1.800000 0.570000 0.020000 0 0.070000 0.040000 0.035383 0.020000 0 1.000000e-02 5.000000e-02 SLMO2 51012 broad.mit.edu 37 20 57613612 57613612 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:57613612T>A ENST00000355937.4 - 2 288 c.110A>T c.(109-111)gAt>gTt p.D37V SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 5 all_lung(29;0.00711) Colorectal(105;0.109) GTCCAACACATCAACTCCAAC 0.478000 0 SO:0001583 missense ENST00000355937.4 1 1 hg19 CCDS42893.1 . . . . . . . . . . T 24.7 4.560690 0.86335 . . ENSG00000101166 ENST00000355937;ENST00000371033 T;T 0.32515 1.45;1.45 5.36 5.36 0.76844 PRELI/MSF1 (2); 0.000000 0.85682 D 0.000000 T 0.69913 0.3164 H 0.97491 4.015 0.80722 D 1 D;D 0.89917 0.997;1.0 D;D 0.83275 0.936;0.996 T 0.81703 -0.0812 10 0.87932 D 0 -10.0953 14.8261 0.70113 0.0:0.0:0.0:1.0 . 37;37 Q5JX17;Q9Y3B1 .;SLMO2_HUMAN V 37 ENSP00000348206:D37V;ENSP00000360072:D37V ENSP00000348206:D37V D - 2 0 SLMO2 57047007 1.000000 0.71417 0.922000 0.36590 0.997000 0.91878 7.578000 0.82498 2.153000 0.67306 0.533000 0.62120 GAT TCGA-F2-A8YN-01A-11D-A377-08 SLMO2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079897.2 1 0 1 212 479 0 114 1 1 114 119 0 114 2 0 0 0 0 0 2 1 1.000000 206 471 0 111 2 0 0 0 0 114 2 -20.000000 1 1 0 0 1 0 0 0 2.121183 0 0.570000 1.800000 0.570000 0.990000 9.500000e-01 1.000000 1.000000 0.997016 0.990000 1 9.900000e-01 1 MYO18B 84700 broad.mit.edu 37 22 26164808 26164808 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:26164808G>T ENST00000407587.2 + 4 1094 c.925G>T c.(925-927)Gta>Tta p.V309L MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 AGGGAAGCACGTAAGGCCCCA 0.557000 0 SO:0001583 missense ENST00000407587.2 1 1 hg19 . . . . . . . . . . g 9.910 1.209362 0.22289 . . ENSG00000133454 ENST00000536101;ENST00000335473;ENST00000407587 D;D;D 0.86297 -2.08;-2.08;-2.1 4.6 1.27 0.21489 . 1.784430 0.03308 N 0.190055 T 0.78168 0.4241 N 0.19112 0.55 0.09310 N 1 B;B;B 0.06786 0.001;0.001;0.001 B;B;B 0.06405 0.001;0.002;0.002 T 0.61347 -0.7081 10 0.33940 T 0.23 . 5.4849 0.16743 0.1802:0.0:0.6607:0.1591 . 309;309;309 Q8IUG5;F5GXR6;F5GYU7 MY18B_HUMAN;.;. L 309 ENSP00000441229:V309L;ENSP00000334563:V309L;ENSP00000386096:V309L ENSP00000334563:V309L V + 1 0 MYO18B 24494808 0.000000 0.05858 0.000000 0.03702 0.115000 0.19883 -0.692000 0.05127 0.051000 0.15978 0.306000 0.20318 GTA TCGA-F2-A8YN-01A-11D-A377-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 1 26 44 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 1.000000 25 43 0 29 2 0 0 0 0 29 2 -20.000000 1 1 0 0 1 0 1 1 1.563576 1 0.570000 1.800000 0.400989 0.870000 6.400000e-01 1.000000 1.000000 0.862409 0.870000 1 7.500000e-01 9.600000e-01 ZNRF3 84133 broad.mit.edu 37 22 29445400 29445400 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:29445400C>T ENST00000544604.2 + 8 1406 c.1231C>T c.(1231-1233)Cag>Tag p.Q411* ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311* NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 28 CTATTCCCCGCAGACCCCCGC 0.682000 0 SO:0001587 stop_gained ENST00000544604.2 0 1 hg19 CCDS56225.1 . . . . . . . . . . C 34 5.353092 0.95830 . . ENSG00000183579 ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323 . . . 5.53 5.53 0.82687 . 0.307718 0.36932 N 0.002329 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.33940 T 0.23 -2.0863 18.456 0.90721 0.0:1.0:0.0:0.0 . . . . X 411;311;118;311;311 . ENSP00000328614:Q311X Q + 1 0 ZNRF3 27775400 1.000000 0.71417 0.851000 0.33527 0.570000 0.35934 5.647000 0.67923 2.593000 0.87608 0.655000 0.94253 CAG TCGA-F2-A8YN-01A-11D-A377-08 ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000320943.2 1 0 0 56 145 0 32 1 9.565555e-01 9 7 0 32 2 0 0 0 0 0 2 1 1.000000 55 143 0 31 2 0 0 0 0 32 2 -20.000000 1 1 0 0 1 1 2 3 2.178060 0 0.570000 1.800000 0.576041 0.990000 7.800000e-01 1.000000 1.000000 0.954887 0.990000 1 8.800000e-01 1 DRG1 4733 broad.mit.edu 37 22 31819348 31819348 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:31819348G>A ENST00000331457.4 + 6 826 c.665G>A c.(664-666)cGt>cAt p.R222H NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 p.R222H(1) 11 GTGACTCTACGTAGTGATGCT 0.478000 1 Substitution - Missense(1) SO:0001583 missense ENST00000331457.4 0 1 hg19 CCDS13897.1 . . . . . . . . . . G 22.3 4.276534 0.80580 . . ENSG00000185721 ENST00000331457 T 0.37584 1.19 5.2 5.2 0.72013 . 0.000000 0.85682 D 0.000000 T 0.49081 0.1536 M 0.85859 2.78 0.80722 D 1 B 0.22146 0.065 B 0.27170 0.077 T 0.53457 -0.8436 10 0.59425 D 0.04 -11.3866 18.1039 0.89513 0.0:0.0:1.0:0.0 . 222 Q9Y295 DRG1_HUMAN H 222 ENSP00000329715:R222H ENSP00000329715:R222H R + 2 0 DRG1 30149348 1.000000 0.71417 0.996000 0.52242 0.993000 0.82548 8.858000 0.92256 2.581000 0.87130 0.563000 0.77884 CGT TCGA-F2-A8YN-01A-11D-A377-08 DRG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075680.5 0 0 0 7 287 0 67 0 3.299076e-01 0 44 0 67 2 0 0 0 0 0 2 1 0.979480 7 281 0 68 2 0 0 0 0 67 2 -3.322044 1 1 121412 3 34 1 0 1 1 1.569789 1 0.570000 1.800000 0.408040 0.060000 2.000000e-02 0.120000 0.060000 0.068543 0.060000 0 3.000000e-02 9.000000e-02 RANGAP1 5905 broad.mit.edu 37 22 41647029 41647029 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:41647029C>T ENST00000455915.2 - 12 2934 c.1465G>A c.(1465-1467)Gca>Aca p.A489T RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T P46060 RAGP1_HUMAN Ran GTPase activating protein 1 19 TCCTGCACTGCCATCCTCACA 0.557000 0 SO:0001583 missense ENST00000455915.2 0 1 hg19 CCDS14012.1 . . . . . . . . . . C 21.8 4.204016 0.79127 . . ENSG00000100401 ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260 D;D;D;D 0.92199 -2.99;-2.99;-2.99;-2.99 4.53 4.53 0.55603 Ran-GTPase activating protein 1, C-terminal (3); 0.112249 0.64402 D 0.000014 D 0.95771 0.8624 M 0.77820 2.39 0.58432 D 0.999995 D;D 0.89917 1.0;1.0 D;D 0.97110 0.997;1.0 D 0.96006 0.8997 10 0.54805 T 0.06 -10.6364 16.2705 0.82616 0.0:1.0:0.0:0.0 . 434;489 F8W7I9;P46060 .;RAGP1_HUMAN T 489;489;489;489;434 ENSP00000385866:A489T;ENSP00000348577:A489T;ENSP00000401470:A489T;ENSP00000385354:A434T ENSP00000348577:A489T A - 1 0 RANGAP1 39976975 0.990000 0.36364 0.526000 0.27913 0.875000 0.50365 2.947000 0.49058 2.084000 0.62774 0.555000 0.69702 GCA TCGA-F2-A8YN-01A-11D-A377-08 RANGAP1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320606.1 0 0 0 7 352 0 46 1 9.578875e-01 7 277 0 46 2 0 0 0 0 0 2 1 0.980072 7 348 0 45 2 0 0 0 0 46 2 -3.147583 1 1 0 0 1 1 2 3 2.193121 0 0.570000 1.800000 0.577229 0.070000 2.000000e-02 1.000000 0.070000 0.122195 0.070000 0 4.000000e-02 1.100000e-01 STEAP3 55240 broad.mit.edu 37 2 120005741 120005741 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:120005741C>T ENST00000354888.5 + 4 1483 c.979C>T c.(979-981)Cgc>Tgc p.R327C STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 17 GCCGCTGCGCCGCGCCCACCG 0.647000 0 SO:0001583 missense ENST00000354888.5 0 1 hg19 CCDS2125.1 . . . . . . . . . . C 14.72 2.619547 0.46736 . . ENSG00000115107 ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223 D;D;D;D;D;D;D;D 0.91180 -2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8 4.73 3.83 0.44106 Flavoprotein transmembrane component (1); 0.229211 0.38959 N 0.001514 D 0.94434 0.8209 M 0.78801 2.425 0.53005 D 0.999967 D;D;D 0.89917 1.0;1.0;0.996 D;D;P 0.74023 0.982;0.969;0.745 D 0.94067 0.7332 9 . . . -17.2643 13.0647 0.59025 0.1787:0.8213:0.0:0.0 . 327;337;327 B8ZZX6;Q658P3-2;Q658P3 .;.;STEA3_HUMAN C 327;327;327;337;327;327;327;327 ENSP00000376820:R327C;ENSP00000346961:R327C;ENSP00000396873:R327C;ENSP00000376822:R337C;ENSP00000376818:R327C;ENSP00000386510:R327C;ENSP00000376819:R327C;ENSP00000396214:R327C . R + 1 0 STEAP3 119722211 1.000000 0.71417 0.975000 0.42487 0.152000 0.21847 1.719000 0.38011 1.150000 0.42419 0.561000 0.74099 CGC TCGA-F2-A8YN-01A-11D-A377-08 STEAP3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254193.1 1 0 0 11 227 0 27 1 7.258385e-01 4 50 0 27 2 0 0 0 0 0 2 1 0.998333 10 226 0 26 2 0 0 0 0 27 2 -12.951570 1 1 120430 1 32 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.160000 8.000000e-02 0.270000 0.160000 0.172881 0.160000 0 1.100000e-01 2.200000e-01 WDR33 55339 broad.mit.edu 37 2 128466262 128466262 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:128466262C>T ENST00000322313.4 - 21 3928 c.3770G>A c.(3769-3771)cGa>cAa p.R1257Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 39 Colorectal(110;0.1) TTTGCCTCCTCGGTCTTCAGA 0.612000 0 SO:0001583 missense ENST00000322313.4 1 1 hg19 CCDS2150.1 . . . . . . . . . . C 26.7 4.759078 0.89843 . . ENSG00000136709 ENST00000322313 D 0.90324 -2.65 5.04 5.04 0.67666 . 0.077936 0.51477 D 0.000094 T 0.78496 0.4292 N 0.14661 0.345 0.80722 D 1 P 0.48998 0.918 B 0.32533 0.147 T 0.81357 -0.0969 10 0.48119 T 0.1 -9.4874 11.5723 0.50841 0.0:0.8202:0.1798:0.0 . 1257 Q9C0J8 WDR33_HUMAN Q 1257 ENSP00000325377:R1257Q ENSP00000325377:R1257Q R - 2 0 WDR33 128182732 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 2.410000 0.44592 2.640000 0.89533 0.655000 0.94253 CGA TCGA-F2-A8YN-01A-11D-A377-08 WDR33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331141.2 1 0 1 139 340 0 70 1 9.992064e-01 12 17 0 70 2 0 0 0 0 0 2 1 1.000000 137 335 0 69 2 0 0 0 0 70 2 -8.896610 1 1 121404 1 41 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.990000 8.600000e-01 1.000000 1.000000 0.975124 0.990000 1 9.300000e-01 1 LRP1B 53353 broad.mit.edu 37 2 141200074 141200074 + Splice_Site SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:141200074G>A ENST00000389484.3 - 66 11384 c.10413C>T c.(10411-10413)tgC>tgT p.C3471C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) GACACTCACCGCAGTTGGCCT 0.448000 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 SO:0001630 splice_region_variant ENST00000389484.3 0 1 hg19 CCDS2182.1 TCGA-F2-A8YN-01A-11D-A377-08 LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 0 0 0 11 326 1 51 0 0 0 1 51 2 0 0 0 0 0 2 0 0.064514 11 322 1 51 20 0 0 0 1 51 2 -3.146105 1 1 121410 1 33 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.110000 5.000000e-02 0.190000 0.120000 0.122511 0.110000 0 8.000000e-02 1.600000e-01 LRP1B 53353 broad.mit.edu 37 2 141267495 141267495 + Splice_Site SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:141267495A>G ENST00000389484.3 - 52 9370 c.e52+1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) CAGTGTTCATACCGCAGCCTG 0.512000 TSP Lung(27;0.18) Colon(99;50 2074 2507 20106) 0 SO:0001630 splice_region_variant ENST00000389484.3 0 1 hg19 CCDS2182.1 . . . . . . . . . . A 31 5.096901 0.94197 . . ENSG00000168702 ENST00000389484;ENST00000544579 . . . 6.17 6.17 0.99709 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.8222 0.85835 1.0:0.0:0.0:0.0 . . . . . -1 . . . - . . LRP1B 140983965 1.000000 0.71417 1.000000 0.80357 0.915000 0.54546 8.852000 0.92215 2.371000 0.80710 0.533000 0.62120 . TCGA-F2-A8YN-01A-11D-A377-08 LRP1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254736.2 0 0 0 6 367 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.964100 6 363 0 75 2 0 0 0 0 75 2 -6.265689 1 1 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.050000 1.000000e-02 0.120000 0.060000 0.064639 0.050000 0 3.000000e-02 9.000000e-02 XIRP2 129446 broad.mit.edu 37 2 168100148 168100148 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:168100148G>A ENST00000409195.1 + 9 2335 c.2246G>A c.(2245-2247)gGc>gAc p.G749D XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 315 GATGGTTCGGGCCAAATGCTG 0.383000 0 SO:0001583 missense ENST00000409195.1 0 1 hg19 CCDS42769.1 . . . . . . . . . . G 18.70 3.680470 0.68042 . . ENSG00000163092 ENST00000409195;ENST00000295237;ENST00000409273 T;T;T 0.28666 1.65;1.65;1.6 5.92 5.92 0.95590 . 0.000000 0.85682 D 0.000000 T 0.62208 0.2409 M 0.83774 2.66 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.998;0.998 T 0.63260 -0.6677 10 0.56958 D 0.05 -15.5671 19.9164 0.97064 0.0:0.0:1.0:0.0 . 574;574;527 A4UGR9;A4UGR9-3;A4UGR9-2 XIRP2_HUMAN;.;. D 749;749;527 ENSP00000386840:G749D;ENSP00000295237:G749D;ENSP00000387255:G527D ENSP00000295237:G749D G + 2 0 XIRP2 167808394 1.000000 0.71417 0.766000 0.31476 0.867000 0.49689 9.106000 0.94253 2.810000 0.96702 0.650000 0.86243 GGC TCGA-F2-A8YN-01A-11D-A377-08 XIRP2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000333547.1 0 0 0 5 339 1 99 0 0 0 1 99 2 0 0 0 0 0 2 0 0.043587 6 335 1 98 13 0 0 0 1 99 2 -3.037425 1 1 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.050000 1.000000e-02 0.110000 0.050000 0.059982 0.050000 0 3.000000e-02 8.000000e-02 CRYGD 1421 broad.mit.edu 37 2 208988967 208988967 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:208988967C>G ENST00000264376.4 - 2 148 c.121G>C c.(121-123)Ggc>Cgc p.G41R NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 5 ATCCAGCAGCCGCTGTCCACG 0.662000 0 SO:0001583 missense ENST00000264376.4 0 1 hg19 CCDS2378.1 . . . . . . . . . . C 27.7 4.854297 0.91355 . . ENSG00000118231 ENST00000264376 D 0.92752 -3.1 4.35 4.35 0.52113 Beta/gamma crystallin (5);Gamma-crystallin-related (1); 0.000000 0.85682 D 0.000000 D 0.97798 0.9277 H 0.99225 4.475 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98877 1.0768 10 0.87932 D 0 . 14.3998 0.67034 0.0:1.0:0.0:0.0 . 41 P07320 CRGD_HUMAN R 41 ENSP00000264376:G41R ENSP00000264376:G41R G - 1 0 CRYGD 208697212 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.730000 0.68546 2.245000 0.73994 0.491000 0.48974 GGC TCGA-F2-A8YN-01A-11D-A377-08 CRYGD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256476.2 0 0 0 6 98 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 0.965404 6 97 0 26 2 0 0 0 0 26 2 -10.078430 1 0 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.210000 8.000000e-02 0.400000 0.200000 0.227391 0.210000 0 1.400000e-01 3.100000e-01 USP37 57695 broad.mit.edu 37 2 219414540 219414540 + Missense_Mutation SNP C C A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:219414540C>A ENST00000258399.3 - 6 833 c.421G>T c.(421-423)Gac>Tac p.D141Y USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 35 Renal(207;0.0915) ACCTGATTGTCTGAGTAAGAA 0.488000 0 SO:0001583 missense ENST00000258399.3 1 1 hg19 CCDS2418.1 . . . . . . . . . . C 16.68 3.191379 0.58017 . . ENSG00000135913 ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465 T;T;T;T;T 0.49139 0.92;0.92;0.92;0.92;0.79 5.03 5.03 0.67393 . 0.164432 0.53938 D 0.000059 T 0.44787 0.1310 N 0.08118 0 0.45354 D 0.998346 D;P;P 0.59767 0.986;0.904;0.845 P;P;B 0.57152 0.814;0.542;0.254 T 0.55147 -0.8186 10 0.66056 D 0.02 -13.609 16.7819 0.85565 0.0:1.0:0.0:0.0 . 141;69;141 Q86W68;Q86T82-2;Q86T82 .;.;UBP37_HUMAN Y 141;141;69;141;141 ENSP00000258399:D141Y;ENSP00000393662:D141Y;ENSP00000400902:D69Y;ENSP00000396585:D141Y;ENSP00000345043:D141Y ENSP00000258399:D141Y D - 1 0 USP37 219122784 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 4.725000 0.61979 2.640000 0.89533 0.579000 0.79373 GAC TCGA-F2-A8YN-01A-11D-A377-08 USP37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256779.3 1 0 1 49 194 0 37 1 1.883101e-01 2 2 0 37 2 0 0 0 0 0 2 1 1.000000 48 192 0 37 2 0 0 0 0 37 2 -20.000000 1 1 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.690000 5.300000e-01 0.870000 0.700000 0.705648 0.690000 0 6.100000e-01 7.900000e-01 SP140 11262 broad.mit.edu 37 2 231174695 231174695 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:231174695C>T ENST00000392045.3 + 23 2229 c.2115C>T c.(2113-2115)tgC>tgT p.C705C SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000420434.3_Silent_p.C678C NM_007237.4 NP_009168.4 Q13342 SP140_HUMAN SP140 nuclear body protein p.C705C(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) TGTTCTGTTGCGACACTTGTT 0.512000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000392045.3 1 1 hg19 CCDS42831.1 TCGA-F2-A8YN-01A-11D-A377-08 SP140-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000332015.1 1 0 1 101 335 0 57 0 0 0 1 0 57 2 0 0 0 0 0 2 1 1.000000 99 331 0 55 2 0 0 0 0 57 2 -3.163996 1 1 121354 30 48 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.790000 6.600000e-01 0.940000 0.800000 0.806274 0.790000 0 7.300000e-01 8.700000e-01 THADA 63892 broad.mit.edu 37 2 43768407 43768407 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:43768407C>T ENST00000405006.4 - 21 3506 c.3155G>A c.(3154-3156)tGt>tAt p.C1052Y THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCTCCAACAACATACCAGCAC 0.413000 0 SO:0001583 missense ENST00000405006.4 1 1 hg19 CCDS46268.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.17|18.17 3.564569|3.564569 0.65651|0.65651 .|. .|. ENSG00000115970|ENSG00000115970 ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351 T;T;T;T|. 0.40476|. 1.03;1.03;1.03;1.03|. 5.67|5.67 5.67|5.67 0.87782|0.87782 Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.66519|0.66519 0.2797|0.2797 L|L 0.39085|0.39085 1.19|1.19 0.58432|0.58432 D|D 0.999996|0.999996 D;D;D;D|. 0.89917|. 0.998;1.0;0.997;1.0|. D;D;D;D|. 0.91635|. 0.991;0.999;0.988;0.999|. T|T 0.60682|0.60682 -0.7215|-0.7215 10|5 0.87932|. D|. 0|. .|. 19.7706|19.7706 0.96363|0.96363 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 762;1053;762;1052|. Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|. .;.;.;THADA_HUMAN|. Y|I 762;1052;1053;762;1052|366 ENSP00000331105:C762Y;ENSP00000386088:C1052Y;ENSP00000416048:C762Y;ENSP00000385995:C1052Y|. ENSP00000331105:C762Y|. C|V -|- 2|1 0|0 THADA|THADA 43621911|43621911 1.000000|1.000000 0.71417|0.71417 0.869000|0.869000 0.34112|0.34112 0.998000|0.998000 0.95712|0.95712 6.179000|6.179000 0.71974|0.71974 2.697000|2.697000 0.92050|0.92050 0.655000|0.655000 0.94253|0.94253 TGT|GTT TCGA-F2-A8YN-01A-11D-A377-08 THADA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326070.3 1 0 1 203 584 0 157 1 9.649836e-01 6 12 0 157 2 0 0 0 0 0 2 1 1.000000 199 574 0 157 2 0 0 0 0 157 2 -20.000000 1 1 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.880000 7.800000e-01 1.000000 0.890000 0.895320 0.880000 1 8.300000e-01 9.500000e-01 BCL11A 53335 broad.mit.edu 37 2 60688454 60688454 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:60688454G>A ENST00000335712.6 - 4 1820 c.1593C>T c.(1591-1593)ggC>ggT p.G531G BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.G531G NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCACGACCGCGCCCCGCGAGC 0.697000 T IGH@ B-CLL Dom yes 2 2p13 53335 B-cell CLL/lymphoma 11A L 0 SO:0001819 synonymous_variant ENST00000335712.6 0 1 hg19 CCDS1862.1 . . . . . . . . . . G 1.532 -0.544002 0.04024 . . ENSG00000119866 ENST00000378117 . . . 4.08 3.2 0.36748 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 7.5491 0.27786 0.1139:0.0:0.8861:0.0 . . . . . -1 . . . - . . BCL11A 60541958 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 0.605000 0.24179 1.307000 0.44944 0.650000 0.86243 . TCGA-F2-A8YN-01A-11D-A377-08 BCL11A-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000251579.2 1 0 0 5 70 0 20 0 6.993007e-03 0 2 0 20 2 0 0 0 0 0 2 1 0.930440 4 67 0 20 2 0 0 0 0 20 2 -3.331042 1 1 119960 1 26 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.240000 9.000000e-02 0.480000 0.230000 0.267556 0.240000 0 1.500000e-01 3.700000e-01 ALMS1 7840 broad.mit.edu 37 2 73646378 73646378 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:73646378G>A ENST00000264448.6 + 3 689 c.578G>A c.(577-579)gGc>gAc p.G193D ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 147 CTGGAGGAGGGCATATTGACG 0.418000 0 SO:0001583 missense ENST00000264448.6 0 1 hg19 CCDS42697.1 . . . . . . . . . . G 8.436 0.849757 0.17034 . . ENSG00000116127 ENST00000409009;ENST00000264448;ENST00000377715 T;T;T 0.42513 2.07;1.81;0.97 4.51 2.69 0.31865 . 0.196490 0.25372 N 0.031150 T 0.30978 0.0782 L 0.36672 1.1 0.20703 N 0.999867 B;B 0.27498 0.18;0.18 B;B 0.31442 0.13;0.13 T 0.28522 -1.0041 10 0.87932 D 0 . 5.4853 0.16747 0.1022:0.0:0.7002:0.1976 . 151;193 B8ZZJ3;Q8TCU4 .;ALMS1_HUMAN D 151;193;193 ENSP00000386627:G151D;ENSP00000264448:G193D;ENSP00000366944:G193D ENSP00000264448:G193D G + 2 0 ALMS1 73499886 0.941000 0.31946 0.353000 0.25747 0.203000 0.24098 1.499000 0.35671 0.623000 0.30267 0.655000 0.94253 GGC TCGA-F2-A8YN-01A-11D-A377-08 ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 0 0 0 6 672 0 114 0 7.087447e-04 0 4 0 114 2 0 0 0 0 0 2 1 0.963611 6 664 0 113 2 0 0 0 0 114 2 -2.530566 1 1 0 0 1 0 0 0 2.085772 0 0.570000 1.800000 0.565041 0.020000 0 0.070000 0.040000 0.035094 0.020000 0 1.000000e-02 5.000000e-02 HCLS1 3059 broad.mit.edu 37 3 121354642 121354642 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:121354642C>T ENST00000314583.3 - 9 722 c.631G>A c.(631-633)Ggc>Agc p.G211S HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 35 TCATTGAAGCCGACAGCGCTC 0.557000 0 SO:0001583 missense ENST00000314583.3 1 1 hg19 CCDS3003.1 3 0.0013736263736263737 0 0.0 0 0.0 0 0.0 3 0.00395778364116095 C 13.00 2.107767 0.37242 0.0 1.16E-4 ENSG00000180353 ENST00000314583;ENST00000428394 T;T 0.25414 1.91;1.8 4.76 2.96 0.34315 . 0.252518 0.45606 N 0.000346 T 0.24236 0.0587 L 0.35542 1.07 0.53688 D 0.999973 P;D 0.56746 0.952;0.977 B;P 0.48952 0.334;0.596 T 0.02632 -1.1131 10 0.72032 D 0.01 -9.5433 9.1271 0.36821 0.0:0.8154:0.0:0.1846 . 174;211 E7EVW7;P14317 .;HCLS1_HUMAN S 211;174 ENSP00000320176:G211S;ENSP00000387645:G174S ENSP00000320176:G211S G - 1 0 HCLS1 122837332 0.914000 0.31030 0.979000 0.43373 0.580000 0.36256 1.597000 0.36729 1.357000 0.45904 -0.150000 0.13652 GGC TCGA-F2-A8YN-01A-11D-A377-08 HCLS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355144.1 1 0 0 23 305 0 48 0 9.787646e-01 0 85 0 48 2 0 0 0 0 0 2 1 0.999999 23 299 0 47 2 0 0 0 0 48 2 -2.598651 1 1 121410 163 56 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.240000 1.500000e-01 0.350000 0.240000 0.253143 0.240000 0 1.900000e-01 3.000000e-01 CD86 942 broad.mit.edu 37 3 121822548 121822548 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:121822548G>A ENST00000330540.2 + 3 370 c.254G>A c.(253-255)cGc>cAc p.R85H CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 23 Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681) TATATGGGCCGCACAAGTTTT 0.423000 GBM(67;1379 1389 36064 39806) 0 SO:0001583 missense ENST00000330540.2 0 1 hg19 CCDS3009.1 . . . . . . . . . . G 25.3 4.619268 0.87460 . . ENSG00000114013 ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627 T;T;T;T 0.72505 1.2;-0.66;-0.66;-0.66 5.54 5.54 0.83059 Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1); 0.000000 0.64402 D 0.000016 D 0.87414 0.6171 M 0.93106 3.38 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.89572 0.3814 10 0.87932 D 0 -18.8448 14.8575 0.70351 0.0:0.0:1.0:0.0 . 85 P42081 CD86_HUMAN H 3;85;79;79 ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H ENSP00000332049:R85H R + 2 0 CD86 123305238 0.999000 0.42202 0.958000 0.39756 0.915000 0.54546 4.887000 0.63156 2.884000 0.98904 0.655000 0.94253 CGC TCGA-F2-A8YN-01A-11D-A377-08 CD86-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000355671.1 0 0 0 6 742 0 124 0 4.198185e-03 0 10 0 124 2 0 6.844924e-01 4 1242 2 983 9 1 0.963877 7 733 0 122 2 0 0 0 0 124 2 -1.805282 0 1 0 0 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.020000 0 0.060000 0.030000 0.031635 0.020000 0 1.000000e-02 5.000000e-02 ADCY5 111 broad.mit.edu 37 3 123046467 123046467 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:123046467G>A ENST00000462833.1 - 7 3157 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 60 CCACAGACCCGCTTCTGGGTG 0.627000 0 SO:0001583 missense ENST00000462833.1 1 1 hg19 CCDS3022.1 . . . . . . . . . . G 20.5 3.998117 0.74818 . . ENSG00000173175 ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617 T;D;D;T 0.82526 -1.23;-1.62;-1.6;-1.49 5.2 4.27 0.50696 Adenylyl cyclase class-3/4/guanylyl cyclase (1); 0.000000 0.64402 D 0.000003 D 0.89434 0.6714 M 0.79123 2.44 0.80722 D 1 P;D 0.76494 0.837;0.999 B;P 0.61275 0.326;0.886 D 0.90581 0.4529 10 0.66056 D 0.02 . 15.0194 0.71617 0.0:0.0:0.7655:0.2345 . 649;282 O95622;B3KWA8 ADCY5_HUMAN;. W 649;282;299;208 ENSP00000419361:R649W;ENSP00000418537:R282W;ENSP00000308685:R299W;ENSP00000420082:R208W ENSP00000308685:R299W R - 1 2 ADCY5 124529157 0.997000 0.39634 1.000000 0.80357 0.988000 0.76386 1.013000 0.29937 2.578000 0.87016 0.655000 0.94253 CGG TCGA-F2-A8YN-01A-11D-A377-08 ADCY5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355889.4 1 0 1 49 62 0 20 0 5.943267e-01 0 4 0 20 2 0 0 0 0 0 2 1 1.000000 49 62 0 20 2 0 0 0 0 20 2 -20.000000 1 1 0 0 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.990000 9.900000e-01 1.000000 1.000000 0.999990 0.990000 1 9.900000e-01 1 MYLK 4638 broad.mit.edu 37 3 123419230 123419230 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:123419230C>T ENST00000475616.1 - 15 3084 c.3085G>A c.(3085-3087)Gcc>Acc p.A1029T MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T Q15746 MYLK_HUMAN myosin light chain kinase 113 Lung NSC(201;0.0496) GCAGGCTTGGCGTTGCCCACG 0.607000 0 SO:0001583 missense ENST00000475616.1 1 1 hg19 CCDS46896.1 . . . . . . . . . . C 6.410 0.443824 0.12164 . . ENSG00000065534 ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616 T;T;T;T;T 0.70869 -0.52;-0.45;-0.52;-0.49;-0.45 5.44 0.483 0.16820 . . . . . T 0.67135 0.2861 M 0.75264 2.295 0.29840 N 0.829312 D;P;D;B;P;B 0.59767 0.986;0.951;0.978;0.021;0.955;0.011 P;B;P;B;B;B 0.48770 0.589;0.371;0.501;0.013;0.322;0.006 T 0.60016 -0.7345 9 0.20046 T 0.44 . 2.1129 0.03707 0.1236:0.4786:0.12:0.2778 . 1029;107;960;1029;960;1029 Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746 .;.;.;.;.;MYLK_HUMAN T 1029;1029;1029;960;1029 ENSP00000354004:A1029T;ENSP00000353452:A1029T;ENSP00000352088:A1029T;ENSP00000320622:A960T;ENSP00000418335:A1029T ENSP00000320622:A960T A - 1 0 MYLK 124901920 0.022000 0.18835 0.020000 0.16555 0.051000 0.14879 0.057000 0.14279 -0.205000 0.10219 0.455000 0.32223 GCC TCGA-F2-A8YN-01A-11D-A377-08 MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356464.1 1 0 1 202 545 0 147 1 9.999938e-01 2 47 0 147 2 0 0 0 0 0 2 1 1.000000 201 535 0 145 2 0 0 0 0 147 2 -20.000000 1 1 0 0 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.930000 8.200000e-01 1.000000 1.000000 0.939403 0.930000 1 8.800000e-01 1 ISY1 57461 broad.mit.edu 37 3 128859253 128859253 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:128859253C>T ENST00000393295.3 - 7 693 c.376G>A c.(376-378)Gca>Aca p.A126T ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T NM_001199469.1|NM_020701.3 NP_001186398.1|NP_065752.1 Q9ULR0 ISY1_HUMAN ISY1 splicing factor homolog (S. cerevisiae) 15 AAATCTTTTGCTGCTCCAAAG 0.368000 0 SO:0001583 missense ENST00000393295.3 0 1 hg19 CCDS43149.1 . . . . . . . . . . C 35 5.462755 0.96257 . . ENSG00000240682 ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292 T 0.61980 0.06 5.66 5.66 0.87406 . 0.000000 0.85682 D 0.000000 D 0.86045 0.5839 H 0.95982 3.75 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.90111 0.4192 10 0.87932 D 0 . 17.2241 0.86964 0.0:1.0:0.0:0.0 . 126;126;126 Q9ULR0-2;Q9ULR0;Q9ULR0-1 .;ISY1_HUMAN;. T 126;126;126;64;126 ENSP00000273541:A126T ENSP00000273541:A126T A - 1 0 ISY1 130341943 1.000000 0.71417 0.998000 0.56505 0.947000 0.59692 7.214000 0.77958 2.663000 0.90544 0.591000 0.81541 GCA TCGA-F2-A8YN-01A-11D-A377-08 ISY1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000267856.1 0 0 0 6 733 0 131 0 2.447533e-01 0 100 0 131 2 0 0 0 0 0 2 1 0.906546 6 513 0 89 2 0 0 0 0 131 2 -2.630986 1 1 120794 1 34 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.020000 0 0.060000 0.030000 0.032065 0.020000 0 1.000000e-02 5.000000e-02 SRPRB 58477 broad.mit.edu 37 3 133535748 133535748 + Missense_Mutation SNP T T G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:133535748T>G ENST00000466490.2 + 7 859 c.574T>G c.(574-576)Tta>Gta p.L192V NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 12 ATCAGCAAAGTTAATTCAACA 0.348000 0 SO:0001583 missense ENST00000466490.2 0 1 hg19 CCDS3081.1 . . . . . . . . . . T 2.622 -0.288295 0.05605 . . ENSG00000144867 ENST00000466490 T 0.15487 2.42 5.48 1.59 0.23543 . 0.156463 0.41605 D 0.000858 T 0.07548 0.0190 N 0.21373 0.66 0.43091 D 0.994765 B 0.21452 0.056 B 0.25884 0.064 T 0.28933 -1.0028 10 0.02654 T 1 -8.2866 3.628 0.08120 0.1767:0.3842:0.0:0.4392 . 192 Q9Y5M8 SRPRB_HUMAN V 192 ENSP00000418401:L192V ENSP00000418401:L192V L + 1 2 SRPRB 135018438 1.000000 0.71417 0.999000 0.59377 0.975000 0.68041 0.797000 0.26999 0.389000 0.25086 -0.256000 0.11100 TTA TCGA-F2-A8YN-01A-11D-A377-08 SRPRB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357170.2 0 0 0 7 773 0 132 1 5.457794e-01 3 185 0 132 2 0 0 0 0 0 2 1 0.979447 7 760 0 131 2 0 0 0 0 132 2 -5.211543 1 1 0 0 1 0 0 0 2.104343 0 0.570000 1.800000 0.567535 0.020000 0 0.070000 0.040000 0.035161 0.020000 0 1.000000e-02 5.000000e-02 SST 6750 broad.mit.edu 37 3 187387014 187387014 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:187387014C>T ENST00000287641.3 - 2 297 c.190G>A c.(190-192)Gag>Aag p.E64K NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) Cysteamine(DB00847) GCATCATTCTCCGTCTGGTTG 0.522000 0 SO:0001583 missense ENST00000287641.3 1 1 hg19 CCDS3288.1 . . . . . . . . . . C 18.78 3.696829 0.68386 . . ENSG00000157005 ENST00000287641 T 0.38401 1.14 5.51 4.64 0.57946 . 0.045481 0.85682 D 0.000000 T 0.44746 0.1308 M 0.82323 2.585 0.52099 D 0.999948 P 0.46784 0.884 B 0.41466 0.358 T 0.55897 -0.8068 10 0.87932 D 0 -17.0825 13.4703 0.61278 0.0:0.9249:0.0:0.0751 . 64 P61278 SMS_HUMAN K 64 ENSP00000287641:E64K ENSP00000287641:E64K E - 1 0 SST 188869708 1.000000 0.71417 0.995000 0.50966 0.898000 0.52572 4.650000 0.61440 1.334000 0.45468 0.305000 0.20034 GAG TCGA-F2-A8YN-01A-11D-A377-08 SST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344278.1 1 0 1 177 914 0 170 0 1 0 127 0 170 2 0 0 0 0 0 2 1 1.000000 176 899 0 165 2 0 0 0 0 170 2 -20.000000 1 1 0 0 1 0 0 0 2.104343 0 0.570000 1.800000 0.567535 0.560000 4.800000e-01 0.640000 0.570000 0.567766 0.560000 0 5.200000e-01 6.100000e-01 ROBO1 6091 broad.mit.edu 37 3 78666996 78666996 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:78666996G>A ENST00000464233.1 - 27 4184 c.4071C>T c.(4069-4071)tcC>tcT p.S1357S ROBO1_ENST00000467549.1_Silent_p.S1257S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000436010.2_Silent_p.S1318S NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) CCCCAACACTGGAGGCAGGTG 0.572000 0 SO:0001819 synonymous_variant ENST00000464233.1 1 1 hg19 CCDS54611.1 TCGA-F2-A8YN-01A-11D-A377-08 ROBO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352610.1 1 0 0 10 193 0 44 0 3.482191e-01 0 23 0 44 2 0 0 0 0 0 2 1 0.996948 10 191 0 43 2 0 0 0 0 44 2 -12.660950 1 1 0 0 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.170000 8.000000e-02 0.300000 0.170000 0.186504 0.170000 0 1.200000e-01 2.400000e-01 ROBO1 6091 broad.mit.edu 37 3 78666997 78666997 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:78666997G>T ENST00000464233.1 - 27 4183 c.4070C>A c.(4069-4071)tCc>tAc p.S1357Y ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) CCCAACACTGGAGGCAGGTGT 0.572000 0 SO:0001583 missense ENST00000464233.1 1 1 hg19 CCDS54611.1 . . . . . . . . . . G 18.94 3.730379 0.69074 . . ENSG00000169855 ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414 T;T;T;T 0.72051 -0.4;-0.44;-0.47;-0.62 5.68 5.68 0.88126 . 0.101670 0.64402 D 0.000001 T 0.78375 0.4273 L 0.34521 1.04 0.80722 D 1 D;P;D;D;D 0.71674 0.997;0.956;0.998;0.988;0.996 D;P;D;P;P 0.80764 0.994;0.577;0.924;0.805;0.875 T 0.74836 -0.3529 9 . . . . 20.1553 0.98111 0.0:0.0:1.0:0.0 . 1321;1357;1312;1257;1318 Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4 .;ROBO1_HUMAN;.;.;. Y 1318;1312;1357;1312;1257;1361 ENSP00000406043:S1318Y;ENSP00000420321:S1357Y;ENSP00000420637:S1312Y;ENSP00000417992:S1257Y . S - 2 0 ROBO1 78749687 1.000000 0.71417 0.992000 0.48379 0.310000 0.27922 9.813000 0.99286 2.838000 0.97847 0.591000 0.81541 TCC TCGA-F2-A8YN-01A-11D-A377-08 ROBO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352610.1 0 0 0 10 194 1 43 0 3.997810e-02 0 23 1 43 4 0 0 0 0 0 2 1 0.996947 10 192 0 43 2 0 0 0 1 43 2 -12.703130 1 1 0 0 1 0 0 0 2.108460 0 0.570000 1.800000 0.567535 0.170000 8.000000e-02 0.300000 0.170000 0.185602 0.170000 0 1.200000e-01 2.400000e-01 UGT2B28 54490 broad.mit.edu 37 4 70155416 70155416 + Missense_Mutation SNP G G A rs77927079 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:70155416G>A ENST00000335568.5 + 4 1038 c.1036G>A c.(1036-1038)Gcc>Acc p.A346T UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 31 TAAACCAGATGCCTTAGGTCT 0.373000 0 SO:0001583 missense ENST00000335568.5 1 0 hg19 CCDS3528.1 165 0.07554945054945054 81 0.16463414634146342 34 0.09392265193370165 10 0.017482517482517484 40 0.052770448548812667 - 0.001 -3.079173 0.00035 0.104698 0.033826 ENSG00000135226 ENST00000335568 T 0.58060 0.36 1.85 0.514 0.17007 . 0.242658 0.33127 N 0.005251 T 0.00039 0.0001 N 0.00074 -2.255 0.58432 D 0.999999 B 0.02656 0.0 B 0.06405 0.002 T 0.34576 -0.9823 10 0.02654 T 1 . 4.4177 0.11465 0.6279:0.0:0.3721:0.0 . 346 Q9BY64 UDB28_HUMAN T 346 ENSP00000334276:A346T ENSP00000334276:A346T A + 1 0 UGT2B28 70190005 0.000000 0.05858 0.487000 0.27428 0.008000 0.06430 0.824000 0.27379 -0.005000 0.14395 -1.499000 0.00960 GCC TCGA-F2-A8YN-01A-11D-A377-08 UGT2B28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251557.2 0 0 1 44 299 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 1.000000 41 278 0 76 2 0 0 0 0 76 2 -0.876799 0 1 120308 8893 64 1 0 0 0 2.102662 0 0.570000 1.800000 0.567535 0.440000 3.300000e-01 0.570000 0.450000 0.454048 0.440000 0 3.800000e-01 5.100000e-01 ALB 213 broad.mit.edu 37 4 74275113 74275113 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:74275113C>T ENST00000503124.1 + 3 281 c.74C>T c.(73-75)gCc>gTc p.A25V ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000505649.1_3'UTR Q8TES7 FBF1_HUMAN albumin 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TACTTTTATGCCCCGGAACTC 0.353000 0 SO:0001583 missense ENST00000503124.1 0 1 hg19 . . . . . . . . . . C 14.99 2.699939 0.48307 . . ENSG00000163631 ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202 T;T;T;T;T 0.72725 -0.68;-0.68;-0.68;-0.68;-0.68 5.55 -0.616 0.11583 Serum albumin-like (1);Serum albumin, N-terminal (3); 0.472937 0.21303 N 0.076761 T 0.82061 0.4955 M 0.68593 2.085 0.37386 D 0.912251 D;P;B;P 0.71674 0.998;0.914;0.39;0.726 D;B;B;B 0.67103 0.949;0.146;0.049;0.075 D 0.85061 0.0934 10 0.72032 D 0.01 -5.329 21.3573 0.99952 0.0:0.3196:0.6804:0.0 . 60;25;175;175 B7WNR0;D6RHD5;A6NBZ8;P02768 .;.;.;ALBU_HUMAN V 177;175;25;175;60;184 ENSP00000392541:A177V;ENSP00000295897:A175V;ENSP00000421027:A25V;ENSP00000422784:A175V;ENSP00000384695:A60V ENSP00000295897:A175V A + 2 0 ALB 74493977 0.924000 0.31332 0.958000 0.39756 0.913000 0.54294 0.021000 0.13489 -0.357000 0.08175 -0.282000 0.10007 GCC TCGA-F2-A8YN-01A-11D-A377-08 ALB-011 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000365419.1 0 0 0 5 530 0 120 0 4.278587e-02 0 28 0 120 2 0 0 0 0 0 2 1 0.937808 7 528 0 118 2 0 0 0 0 120 2 -2.206329 0 1 0 0 1 0 0 0 2.102662 0 0.570000 1.800000 0.567535 0.030000 0 0.070000 0.040000 0.038457 0.030000 0 1.000000e-02 6.000000e-02 SNCAIP 9627 broad.mit.edu 37 5 121776408 121776408 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:121776408G>A ENST00000261368.8 + 7 1643 c.1381G>A c.(1381-1383)Gtt>Att p.V461I SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I NM_005460.2 NP_005451.2 Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) CAACAGTGCCGTTCACGTAGC 0.428000 0 SO:0001583 missense ENST00000261368.8 0 1 hg19 CCDS4131.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 14.95 2.689844 0.48097 . . ENSG00000064692 ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116 T;T;T;T;T;T;T;T;T 0.63913 -0.03;0.71;0.71;0.71;0.71;1.48;0.71;1.48;-0.07 5.23 5.23 0.72850 Ankyrin repeat-containing domain (4); 0.124143 0.53938 D 0.000052 T 0.66479 0.2793 N 0.13327 0.33 0.54753 D 0.999981 B;P;P;P;D;B;D;P;D 0.89917 0.381;0.947;0.924;0.853;0.999;0.236;1.0;0.953;1.0 B;P;B;B;D;B;D;B;D 0.70487 0.117;0.5;0.32;0.444;0.917;0.016;0.947;0.382;0.969 T 0.71031 -0.4710 10 0.54805 T 0.06 -17.0364 18.9919 0.92796 0.0:0.0:1.0:0.0 . 401;89;63;508;401;95;95;508;461 D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5 .;.;.;.;.;.;.;.;SNCAP_HUMAN I 19;401;461;508;401;95;508;63;101;508 ENSP00000441681:V19I;ENSP00000422106:V401I;ENSP00000261368:V461I;ENSP00000368848:V508I;ENSP00000368851:V401I;ENSP00000368854:V95I;ENSP00000261367:V508I;ENSP00000394392:V63I;ENSP00000423199:V508I ENSP00000261367:V508I V + 1 0 SNCAIP 121804307 1.000000 0.71417 0.159000 0.22649 0.060000 0.15804 9.178000 0.94855 2.721000 0.93114 0.655000 0.94253 GTT TCGA-F2-A8YN-01A-11D-A377-08 SNCAIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250888.1 0 0 0 5 491 0 80 0 1.636768e-03 0 5 0 80 2 0 0 0 0 0 2 1 0.936834 5 488 0 79 2 0 0 0 0 80 2 -2.254108 0 1 121412 4 38 1 0 0 0 2.116258 0 0.570000 1.800000 0.570000 0.030000 0 0.080000 0.040000 0.041832 0.030000 0 1.000000e-02 6.000000e-02 PCDHB6 56130 broad.mit.edu 37 5 140530477 140530477 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:140530477G>A ENST00000231136.1 + 1 639 c.639G>A c.(637-639)gcG>gcA p.A213A PCDHB6_ENST00000543635.1_Silent_p.A77A NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGATCGCGCTGGATGGCG 0.602000 0 SO:0001819 synonymous_variant ENST00000231136.1 1 1 hg19 CCDS4248.1 TCGA-F2-A8YN-01A-11D-A377-08 PCDHB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251818.2 1 0 1 90 202 0 91 0 7.574151e-01 0 8 0 91 2 0 0 0 0 0 2 1 1.000000 87 198 0 91 2 0 0 0 0 91 2 -20.000000 1 1 0 0 1 0 0 0 2.116258 0 0.570000 1.800000 0.570000 0.990000 8.900000e-01 1.000000 1.000000 0.990541 0.990000 1 9.800000e-01 1 PCDHGA10 56106 broad.mit.edu 37 5 140795043 140795043 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:140795043G>A ENST00000398610.2 + 1 2301 c.2301G>A c.(2299-2301)tcG>tcA p.S767S PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGGACTCGCGAAAGAGTC 0.562000 0 SO:0001819 synonymous_variant ENST00000398610.2 1 1 hg19 CCDS47292.1 TCGA-F2-A8YN-01A-11D-A377-08 PCDHGA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374747.1 1 0 1 141 654 0 121 0 6.074038e-01 0 11 0 121 2 0 0 0 0 0 2 1 1.000000 139 645 0 119 2 0 0 0 0 121 2 -20.000000 1 1 121412 1 33 1 0 0 0 2.116258 0 0.570000 1.800000 0.570000 0.610000 5.200000e-01 0.710000 0.620000 0.624551 0.610000 0 5.700000e-01 6.700000e-01 RMND5B 64777 broad.mit.edu 37 5 177574596 177574596 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:177574596G>A ENST00000515098.1 + 10 1274 c.923G>A c.(922-924)cGg>cAg p.R308Q RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATTGAGCAGCGGCAGTGCACT 0.577000 0 SO:0001583 missense ENST00000515098.1 1 1 hg19 CCDS4431.1 . . . . . . . . . . G 34 5.360506 0.95877 . . ENSG00000145916 ENST00000313386;ENST00000515098;ENST00000542098 . . . 5.78 5.78 0.91487 . 0.000000 0.85682 D 0.000000 T 0.78071 0.4226 M 0.71581 2.175 0.58432 D 0.999998 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.74674 0.964;0.984;0.975 T 0.75897 -0.3155 9 0.38643 T 0.18 -25.4369 17.5078 0.87750 0.0:0.0:1.0:0.0 . 295;295;308 B3KSG5;F5H6G4;Q96G75 .;.;RMD5B_HUMAN Q 308;308;295 . ENSP00000320623:R308Q R + 2 0 RMND5B 177507202 1.000000 0.71417 0.998000 0.56505 0.786000 0.44442 9.602000 0.98312 2.724000 0.93272 0.563000 0.77884 CGG TCGA-F2-A8YN-01A-11D-A377-08 RMND5B-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373542.1 1 0 1 41 136 0 31 1 9.999993e-01 26 52 0 31 2 0 0 0 0 0 2 1 1.000000 41 132 0 31 2 0 0 0 0 31 2 -4.090996 1 1 121412 1 34 1 0 0 0 2.116258 0 0.570000 1.800000 0.570000 0.800000 6.000000e-01 1.000000 1.000000 0.816831 0.800000 0 7.000000e-01 9.300000e-01 C9 735 broad.mit.edu 37 5 39331865 39331865 + Missense_Mutation SNP G G C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:39331865G>C ENST00000263408.4 - 5 623 c.528C>G c.(526-528)ttC>ttG p.F176L C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTCCATTGTAGAACTCATTGT 0.438000 0 SO:0001583 missense ENST00000263408.4 1 1 hg19 CCDS3929.1 . . . . . . . . . . G 16.74 3.205577 0.58234 . . ENSG00000113600 ENST00000263408 T 0.33438 1.41 5.72 4.74 0.60224 Membrane attack complex component/perforin (MACPF) domain (1); 0.573755 0.19914 N 0.103230 T 0.22551 0.0544 L 0.45581 1.43 0.41407 D 0.987719 P 0.42456 0.78 B 0.38106 0.265 T 0.02909 -1.1095 10 0.37606 T 0.19 -8.041 4.5426 0.12066 0.2863:0.0:0.7137:0.0 . 176 P02748 CO9_HUMAN L 176 ENSP00000263408:F176L ENSP00000263408:F176L F - 3 2 C9 39367622 1.000000 0.71417 1.000000 0.80357 0.900000 0.52787 3.003000 0.49505 2.709000 0.92574 0.561000 0.74099 TTC TCGA-F2-A8YN-01A-11D-A377-08 C9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211576.3 1 0 0 36 511 0 104 0 0 0 0 104 2 0 0 0 0 0 2 1 1.000000 35 508 0 104 2 0 0 0 0 104 2 -7.762589 1 1 0 0 1 0 1 1 2.112614 0 0.570000 1.800000 0.568771 0.220000 1.600000e-01 0.310000 0.230000 0.235475 0.220000 0 1.900000e-01 2.700000e-01 CD164 8763 broad.mit.edu 37 6 109690132 109690132 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:109690132C>T ENST00000310786.4 - 6 581 c.516G>A c.(514-516)ctG>ctA p.L172L CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L NM_001142404.1|NM_006016.4 NP_001135876.1|NP_006007.2 Q04900 MUC24_HUMAN CD164 molecule, sialomucin 3 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) CACCCAAGACCAGGACAATTC 0.388000 0 SO:0001819 synonymous_variant ENST00000310786.4 1 1 hg19 CCDS5073.1 TCGA-F2-A8YN-01A-11D-A377-08 CD164-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041742.1 1 0 1 138 112 0 56 1 1 820 84 0 56 2 0 0 0 0 0 2 1 1.000000 136 108 0 55 2 0 0 0 0 56 2 -20.000000 1 1 0 0 1 0 2 2 2.108549 1 0.570000 1.800000 0.570000 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 LAMA4 3910 broad.mit.edu 37 6 112460431 112460431 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:112460431G>A ENST00000230538.7 - 24 3570 c.3173C>T c.(3172-3174)gCc>gTc p.A1058V LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) TCTCACCACGGCATAACCGGA 0.488000 0 SO:0001583 missense ENST00000230538.7 0 1 hg19 CCDS43491.1 . . . . . . . . . . G 16.64 3.180380 0.57800 . . ENSG00000112769 ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408 T;T;T;T 0.78924 -1.22;-1.22;-1.22;-1.22 5.98 5.98 0.97165 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1); 0.092613 0.85682 D 0.000000 D 0.86360 0.5914 M 0.66939 2.045 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.76575 0.972;0.988 D 0.86224 0.1633 10 0.87932 D 0 . 20.4434 0.99119 0.0:0.0:1.0:0.0 . 1058;1051 Q16363;Q16363-2 LAMA4_HUMAN;. V 1058;1051;1051;1051 ENSP00000230538:A1058V;ENSP00000429488:A1051V;ENSP00000374114:A1051V;ENSP00000416470:A1051V ENSP00000230538:A1058V A - 2 0 LAMA4 112567124 1.000000 0.71417 0.889000 0.34880 0.034000 0.12701 4.986000 0.63851 2.838000 0.97847 0.655000 0.94253 GCC TCGA-F2-A8YN-01A-11D-A377-08 LAMA4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000041876.2 0 0 0 5 397 0 87 0 2.417771e-01 0 63 0 87 2 0 0 0 0 0 2 1 0.934988 5 390 0 85 2 0 0 0 0 87 2 -1.820661 0 1 0 0 1 0 1 1 1.491063 1 0.570000 1.800000 0.398601 0.030000 0 0.070000 0.030000 0.037108 0.030000 0 1.000000e-02 5.000000e-02 OLIG3 167826 broad.mit.edu 37 6 137815036 137815036 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:137815036C>T ENST00000367734.2 - 1 495 c.272G>A c.(271-273)cGc>cAc p.R91H NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 11 Breast(32;0.165)|Colorectal(23;0.24) CTTGCGTTCGCGTCCGTTGAT 0.617000 0 SO:0001583 missense ENST00000367734.2 1 1 hg19 CCDS5186.1 . . . . . . . . . . C 20.8 4.044310 0.75732 . . ENSG00000177468 ENST00000367734 T 0.73789 -0.78 5.44 4.57 0.56435 Helix-loop-helix DNA-binding (5); 0.069292 0.53938 D 0.000052 D 0.88262 0.6389 H 0.96239 3.79 0.58432 D 0.999999 D 0.89917 1.0 D 0.77004 0.989 D 0.91956 0.5575 10 0.87932 D 0 -1.623 14.2214 0.65830 0.0:0.9275:0.0:0.0725 . 91 Q7RTU3 OLIG3_HUMAN H 91 ENSP00000356708:R91H ENSP00000356708:R91H R - 2 0 OLIG3 137856729 1.000000 0.71417 0.706000 0.30403 0.994000 0.84299 6.087000 0.71362 1.287000 0.44583 0.591000 0.81541 CGC TCGA-F2-A8YN-01A-11D-A377-08 OLIG3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042405.1 1 0 1 78 486 0 86 0 0 0 0 86 2 0 0 0 0 0 2 1 1.000000 77 477 0 84 2 0 0 0 0 86 2 -3.142736 1 1 0 0 1 0.570000 1.800000 0 0 STX11 8676 broad.mit.edu 37 6 144507954 144507954 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:144507954C>T ENST00000367568.4 + 2 373 c.190C>T c.(190-192)Cgg>Tgg p.R64W NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 12 CGACGTGAAGCGGCTGGGAAA 0.622000 Familial Hemophagocytic Lymphohistiocytosis 0 SO:0001583 missense Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR ENST00000367568.4 0 1 hg19 CCDS5205.1 . . . . . . . . . . C 15.43 2.830098 0.50845 . . ENSG00000135604 ENST00000367568 T 0.18960 2.18 5.99 5.99 0.97316 t-SNARE (1);Syntaxin, N-terminal (2); 0.000000 0.85682 D 0.000000 T 0.43656 0.1257 M 0.83603 2.65 0.58432 D 0.999999 D 0.89917 1.0 D 0.79784 0.993 T 0.41645 -0.9497 10 0.87932 D 0 -32.9952 15.6832 0.77388 0.1375:0.8624:0.0:0.0 . 64 O75558 STX11_HUMAN W 64 ENSP00000356540:R64W ENSP00000356540:R64W R + 1 2 STX11 144549647 1.000000 0.71417 1.000000 0.80357 0.039000 0.13416 2.859000 0.48364 2.840000 0.97914 0.655000 0.94253 CGG TCGA-F2-A8YN-01A-11D-A377-08 STX11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042544.1 1 0 0 11 135 0 23 0 5.849294e-02 0 5 0 23 2 0 0 0 0 0 2 1 0.998424 11 133 0 23 2 0 0 0 0 23 2 -16.054450 1 1 0 0 1 0 2 2 2.114676 1 0.570000 1.800000 0.570000 0.270000 1.400000e-01 1.000000 0.260000 0.316693 0.270000 0 2.000000e-01 3.800000e-01 BTN2A2 10385 broad.mit.edu 37 6 26390289 26390289 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:26390289G>A ENST00000356709.4 + 5 892 c.781G>A c.(781-783)Gca>Aca p.A261T BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 23 CATCCTGACCGCATCTCCCTG 0.463000 0 SO:0001583 missense ENST00000356709.4 0 1 hg19 CCDS4606.1 . . . . . . . . . . . 4.517 0.095872 0.08681 . . ENSG00000124508 ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410 T;T;T;T;T;T;T;T;T 0.22743 1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94 2.38 -4.76 0.03229 . . . . . T 0.01870 0.0059 N 0.03608 -0.345 0.09310 N 1 B;B;B;B;B;B;B 0.25007 0.0;0.0;0.116;0.105;0.003;0.0;0.0 B;B;B;B;B;B;B 0.17433 0.0;0.0;0.015;0.018;0.001;0.0;0.0 T 0.40384 -0.9566 9 0.46703 T 0.11 . 5.0603 0.14553 0.248:0.0:0.4881:0.2639 . 51;51;167;145;261;145;261 B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5 .;.;.;.;.;.;BT2A2_HUMAN T 261;56;261;145;51;167;56;261;145 ENSP00000417472:A261T;ENSP00000418965:A56T;ENSP00000349143:A261T;ENSP00000337117:A145T;ENSP00000419451:A51T;ENSP00000394241:A167T;ENSP00000417676:A56T;ENSP00000399308:A261T;ENSP00000418176:A145T ENSP00000337117:A145T A + 1 0 BTN2A2 26498268 0.006000 0.16342 0.000000 0.03702 0.059000 0.15707 -0.039000 0.12124 -2.050000 0.00905 -0.600000 0.04104 GCA TCGA-F2-A8YN-01A-11D-A377-08 BTN2A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040117.1 0 0 0 5 509 0 114 0 7.867875e-03 0 11 0 114 2 0 0 0 0 0 2 1 0.936859 5 507 0 114 2 0 0 0 0 114 2 -1.951449 0 1 0 0 1 0 1 1 1.521508 1 0.570000 1.800000 0.398601 0.020000 0 0.050000 0.030000 0.029048 0.020000 0 1.000000e-02 4.000000e-02 CFB 629 broad.mit.edu 37 6 31917095 31917095 + Missense_Mutation SNP G G A rs150398964 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:31917095G>A ENST00000425368.2 + 9 1757 c.1244G>A c.(1243-1245)cGc>cAc p.R415H CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H NM_001710.5 NP_001701.2 P00751 CFAB_HUMAN complement factor B p.R415H(1) 21 GGCAAGGATCGCAAAAACCCA 0.522000 1 Substitution - Missense(1) SO:0001583 missense ENST00000425368.2 0 1 hg19 CCDS4729.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 11.19|11.19 1.566586|1.566586 0.28003|0.28003 2.27E-4|2.27E-4 0.0|0.0 ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255 ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310 .|T;T;T;T .|0.78003 .|-1.14;-1.14;-1.14;-1.14 5.95|5.95 0.899|0.899 0.19271|0.19271 .|von Willebrand factor, type A (3); .|0.469789 .|0.20245 .|N .|0.096201 T|T 0.51618|0.51618 0.1685|0.1685 M|M 0.76328|0.76328 2.33|2.33 0.09310|0.09310 N|N 1|1 .|B;B;B .|0.30361 .|0.277;0.021;0.02 .|B;B;B .|0.19391 .|0.025;0.005;0.003 T|T 0.43507|0.43507 -0.9387|-0.9387 5|10 .|0.37606 .|T .|0.19 -10.0671|-10.0671 4.8511|4.8511 0.13537|0.13537 0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0 .|. .|917;415;415 .|B4E1Z4;P00751;P00751-2 .|.;CFAB_HUMAN;. T|H 28|917;415;917;766 .|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H .|ENSP00000416561:R415H A|R +|+ 1|2 0|0 CFB|CFB;XXbac-BPG116M5.17 32025074|32025074 0.000000|0.000000 0.05858|0.05858 0.886000|0.886000 0.34754|0.34754 0.262000|0.262000 0.26303|0.26303 -0.106000|-0.106000 0.10890|0.10890 0.127000|0.127000 0.18452|0.18452 -0.119000|-0.119000 0.15052|0.15052 GCA|CGC TCGA-F2-A8YN-01A-11D-A377-08 CFB-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000076395.3 0 0 0 4 314 0 43 1 9.968412e-01 2 1063 0 43 2 0 0 0 0 0 2 1 0.887263 4 311 0 43 2 0 0 0 0 43 2 -2.316912 0 1 121412 2 30 1 1 2 3 2.739861 1 0.570000 1.800000 0.665370 0.060000 0 0.140000 0.060000 0.069904 0.060000 0 3.000000e-02 1.000000e-01 TNXB 7148 broad.mit.edu 37 6 32017099 32017099 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:32017099G>A ENST00000375244.3 - 28 9906 c.9705C>T c.(9703-9705)taC>taT p.Y3235Y TNXB_ENST00000375247.2_Silent_p.Y3233Y P22105 TENX_HUMAN tenascin XB 8 CGTGGAGGCCGTACAGATGCA 0.697000 0 SO:0001819 synonymous_variant ENST00000375244.3 1 1 hg19 TCGA-F2-A8YN-01A-11D-A377-08 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 0 0 0 11 342 0 37 0 3.606304e-03 0 3 0 37 2 0 0 0 0 0 2 1 0.998089 10 332 0 37 2 0 0 0 0 37 2 -2.910188 1 1 0 0 1 1 3 4 2.730959 1 0.570000 1.800000 0.671204 0.160000 7.000000e-02 1.000000 0.150000 0.358473 0.160000 0 1.100000e-01 1 FUT9 10690 broad.mit.edu 37 6 96651947 96651947 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:96651947G>A ENST00000302103.5 + 3 1242 c.916G>A c.(916-918)Gac>Aac p.D306N NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) GAAGGAAGTCGACAAAAACAA 0.368000 Melanoma(98;1369 1476 6592 22940 26587) 0 SO:0001583 missense ENST00000302103.5 1 1 hg19 CCDS5033.1 . . . . . . . . . . G 17.75 3.466121 0.63625 0.0 1.16E-4 ENSG00000172461 ENST00000302103 T 0.29142 1.58 5.5 5.5 0.81552 . 0.045414 0.85682 D 0.000000 T 0.29423 0.0733 M 0.65975 2.015 0.58432 D 0.999995 P 0.47762 0.9 P 0.48304 0.573 T 0.08472 -1.0720 10 0.59425 D 0.04 -18.0675 11.7939 0.52088 0.0799:0.0:0.9201:0.0 . 306 Q9Y231 FUT9_HUMAN N 306 ENSP00000302599:D306N ENSP00000302599:D306N D + 1 0 FUT9 96758668 1.000000 0.71417 0.999000 0.59377 0.987000 0.75469 7.690000 0.84178 2.586000 0.87340 0.467000 0.42956 GAC TCGA-F2-A8YN-01A-11D-A377-08 FUT9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041554.2 1 0 0 95 161 0 94 0 0 1 0 0 94 2 0 0 0 0 0 2 1 1.000000 92 160 0 94 2 0 0 0 0 94 2 -20.000000 1 1 121214 3 37 1 0 1 1 1.500843 1 0.570000 1.800000 0.398601 0.900000 7.700000e-01 1.000000 0.930000 0.906110 0.900000 1 8.400000e-01 9.700000e-01 PDE1C 5137 broad.mit.edu 37 7 32109952 32109952 + Nonsense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:32109952G>T ENST00000396191.1 - 1 509 c.54C>A c.(52-54)taC>taA p.Y18* PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18* NM_001191057.1 NP_001177986.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 81 GBM - Glioblastoma multiforme(11;0.216) Caffeine(DB00201) CCGGTTGCAGGTATTTCAGAG 0.502000 0 SO:0001587 stop_gained ENST00000396191.1 0 1 hg19 CCDS55099.1 . . . . . . . . . . G 37 6.202601 0.97371 . . ENSG00000154678 ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189 . . . 4.94 4.94 0.65067 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 11.7686 0.51945 0.0813:0.0:0.9187:0.0 . . . . X 18 . ENSP00000318105:Y18X Y - 3 2 PDE1C 32076477 1.000000 0.71417 1.000000 0.80357 0.816000 0.46133 5.373000 0.66162 2.706000 0.92434 0.655000 0.94253 TAC TCGA-F2-A8YN-01A-11D-A377-08 PDE1C-006 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000328458.1 0 0 0 10 544 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.996630 10 534 0 85 2 0 0 0 0 88 2 -8.052445 1 1 0 0 1 0 0 0 2.119234 0 0.570000 1.800000 0.570000 0.060000 2.000000e-02 0.110000 0.060000 0.069293 0.060000 0 4.000000e-02 9.000000e-02 SFRP4 6424 broad.mit.edu 37 7 37956044 37956044 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:37956044G>A ENST00000436072.2 - 1 473 c.96C>T c.(94-96)tgC>tgT p.C32C EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 29 GCATGTGCCGGCACATAGGGA 0.672000 0 SO:0001819 synonymous_variant ENST00000436072.2 0 1 hg19 CCDS5453.1 TCGA-F2-A8YN-01A-11D-A377-08 SFRP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000220017.2 0 0 0 5 309 0 37 0 4.583301e-01 0 85 0 37 2 0 0 0 0 0 2 1 0.936976 5 307 0 37 2 0 0 0 0 37 2 -2.825972 1 1 0 0 1 0 0 0 2.119234 0 0.570000 1.800000 0.570000 0.050000 1.000000e-02 0.120000 0.060000 0.066426 0.050000 0 3.000000e-02 9.000000e-02 STARD3NL 83930 broad.mit.edu 37 7 38256892 38256892 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:38256892C>G ENST00000009041.7 + 6 796 c.539C>G c.(538-540)gCa>gGa p.A180G STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G|STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like 10 CCTCAAGAAGCAGAAGAAGAA 0.483000 0 SO:0001583 missense ENST00000009041.7 0 1 hg19 CCDS5455.1 . . . . . . . . . . C 21.3 4.124761 0.77436 . . ENSG00000010270 ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000429075 T;T;T;T;T;T 0.46819 0.86;0.86;0.86;0.86;0.86;0.86 5.93 5.93 0.95920 MENTAL domain (2); 0.150508 0.64402 D 0.000016 T 0.67951 0.2948 M 0.75447 2.3 0.50467 D 0.999874 P;P 0.52692 0.955;0.955 P;P 0.60236 0.871;0.843 T 0.67730 -0.5595 10 0.56958 D 0.05 -9.1947 19.1254 0.93380 0.0:1.0:0.0:0.0 . 162;180 C9JKL2;O95772 .;MENTO_HUMAN G 180;173;162;180;180;180 ENSP00000009041:A180G;ENSP00000439436:A173G;ENSP00000394000:A162G;ENSP00000379334:A180G;ENSP00000411933:A180G;ENSP00000402028:A180G ENSP00000009041:A180G A + 2 0 STARD3NL 38223417 0.999000 0.42202 1.000000 0.80357 0.997000 0.91878 2.985000 0.49362 2.826000 0.97356 0.655000 0.94253 GCA TCGA-F2-A8YN-01A-11D-A377-08 STARD3NL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226929.2 0 0 0 8 444 0 126 1 5.654769e-01 2 98 0 126 2 0 0 0 0 0 2 1 0.988910 7 439 0 126 2 0 0 0 0 126 2 -3.175415 1 1 0 0 1 0 0 0 2.119234 0 0.570000 1.800000 0.570000 0.060000 2.000000e-02 0.120000 0.060000 0.069436 0.060000 0 4.000000e-02 9.000000e-02 FKBP6 8468 broad.mit.edu 37 7 72754662 72754662 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:72754662G>A ENST00000252037.4 + 6 680 c.611G>A c.(610-612)cGa>cAa p.R204Q RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGCGCCGGCGATCAGCACCC 0.537000 0 SO:0001583 missense ENST00000252037.4 1 1 hg19 CCDS43595.1 . . . . . . . . . . G 8.847 0.943556 0.18281 . . ENSG00000077800 ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037 T;T;T;T 0.73897 -0.79;0.51;-0.79;-0.79 4.91 4.02 0.46733 Tetratricopeptide-like helical (1); 0.285857 0.32055 N 0.006641 T 0.50051 0.1593 N 0.21448 0.665 0.09310 N 0.999998 P;B;B 0.37864 0.61;0.185;0.287 B;B;B 0.25140 0.058;0.02;0.047 T 0.39165 -0.9627 10 0.15499 T 0.54 -10.6094 8.5323 0.33342 0.1717:0.0:0.8283:0.0 . 199;204;174 O75344-2;O75344;Q7Z4T4 .;FKBP6_HUMAN;. Q 199;159;174;204 ENSP00000416277:R199Q;ENSP00000402360:R159Q;ENSP00000394952:R174Q;ENSP00000252037:R204Q ENSP00000252037:R204Q R + 2 0 FKBP6 72392598 0.532000 0.26346 0.135000 0.22099 0.007000 0.05969 4.204000 0.58460 2.284000 0.76573 0.563000 0.77884 CGA TCGA-F2-A8YN-01A-11D-A377-08 FKBP6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318723.1 0 0 0 9 291 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.994051 9 288 0 35 2 0 0 0 0 35 2 -9.527086 1 1 120896 1 31 1 0 0 0 2.119234 0 0.570000 1.800000 0.570000 0.100000 4.000000e-02 0.190000 0.100000 0.115875 0.100000 0 7.000000e-02 1.500000e-01 BAI1 575 broad.mit.edu 37 8 143569790 143569790 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:143569790C>T ENST00000517894.1 + 14 3268 c.2374C>T c.(2374-2376)Cgg>Tgg p.R792W BAI1_ENST00000323289.5_Missense_Mutation_p.R792W O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GAAGGGCTGGCGGGCCACGGG 0.632000 0 SO:0001583 missense ENST00000517894.1 0 1 hg19 . . . . . . . . . . C 17.56 3.419482 0.62622 . . ENSG00000181790 ENST00000517894;ENST00000323289 T;T 0.28666 1.6;1.6 4.65 1.7 0.24286 . 0.070341 0.53938 U 0.000049 T 0.44767 0.1309 L 0.61218 1.895 0.50632 D 0.999889 D 0.89917 1.0 D 0.65987 0.94 T 0.28839 -1.0031 10 0.87932 D 0 . 7.1912 0.25826 0.5489:0.3668:0.0:0.0842 . 792 E9PBK0 . W 792 ENSP00000430945:R792W;ENSP00000313046:R792W ENSP00000313046:R792W R + 1 2 BAI1 143566792 1.000000 0.71417 0.998000 0.56505 0.969000 0.65631 0.764000 0.26532 0.107000 0.17824 0.313000 0.20887 CGG TCGA-F2-A8YN-01A-11D-A377-08 BAI1-001 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000379963.3 0 0 0 6 470 0 71 0 0 0 1 0 71 2 0 0 0 0 0 2 1 0.959736 6 448 0 67 2 0 0 0 0 71 2 -2.084747 0 1 0 0 1 0 0 0 2.116021 0 0.570000 1.800000 0.570000 0.040000 0 0.090000 0.040000 0.051271 0.040000 0 2.000000e-02 7.000000e-02 CSPP1 79848 broad.mit.edu 37 8 68015300 68015300 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:68015300C>T ENST00000262210.5 + 7 1010 c.979C>T c.(979-981)Cct>Tct p.P327S CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGGGAATATGCCTCCTATGGA 0.348000 0 SO:0001583 missense ENST00000262210.5 0 1 hg19 CCDS43744.1 . . . . . . . . . . C 12.27 1.886309 0.33348 . . ENSG00000104218 ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668 T;T;T 0.31769 1.48;1.48;1.48 5.04 3.2 0.36748 . 0.298091 0.27388 N 0.019590 T 0.42675 0.1213 L 0.45581 1.43 0.19775 N 0.999954 D;P;P;P 0.71674 0.998;0.927;0.846;0.846 D;P;P;P 0.72625 0.978;0.585;0.605;0.753 T 0.12243 -1.0555 10 0.44086 T 0.13 -3.3434 8.1653 0.31222 0.0:0.8142:0.0:0.1858 . 33;327;362;362 Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3 .;.;CSPP1_HUMAN;. S 327;362;33;33 ENSP00000262210:P327S;ENSP00000415782:P33S;ENSP00000430092:P33S ENSP00000262210:P327S P + 1 0 CSPP1 68177854 0.272000 0.24172 0.560000 0.28344 0.091000 0.18340 1.084000 0.30828 0.791000 0.33826 0.655000 0.94253 CCT TCGA-F2-A8YN-01A-11D-A377-08 CSPP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379254.1 0 0 0 4 232 0 41 0 1.658614e-02 0 9 0 41 2 0 0 0 0 0 2 1 0.890131 4 231 0 41 2 0 0 0 0 41 2 -3.012819 1 1 0 0 1 0 0 0 2.116021 0 0.570000 1.800000 0.570000 0.060000 1.000000e-02 0.140000 0.060000 0.073404 0.060000 0 3.000000e-02 1.000000e-01 SUSD1 64420 broad.mit.edu 37 9 114904607 114904607 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:114904607A>G ENST00000374270.3 - 5 871 c.699T>C c.(697-699)caT>caC p.H233H SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 p.H233H(1) SUSD1/ROD1(2) 28 CACCTTGGCAATGTAATTTTG 0.408000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000374270.3 1 1 hg19 CCDS6783.1 . . . . . . . . . . A 7.504 0.653217 0.14580 . . ENSG00000106868 ENST00000415074 . . . 5.66 0.0291 0.14161 . . . . . T 0.44286 0.1286 . . . 0.80722 D 1 . . . . . . T 0.23726 -1.0180 4 . . . -0.156 4.204 0.10480 0.3829:0.0:0.3733:0.2438 . . . . T 47 . . I - 2 0 SUSD1 113944428 0.000000 0.05858 0.515000 0.27774 0.950000 0.60333 -0.799000 0.04560 0.126000 0.18424 0.528000 0.53228 ATT TCGA-F2-A8YN-01A-11D-A377-08 SUSD1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053668.3 1 0 1 192 506 0 155 1 9.750929e-01 5 13 0 155 2 0 0 0 0 0 2 1 1.000000 190 496 0 154 2 0 0 0 0 155 2 -20.000000 1 1 121412 1 38 1 0 0 0 2.093051 0 0.570000 1.800000 0.565041 0.940000 8.300000e-01 1.000000 1.000000 0.947543 0.940000 1 8.900000e-01 1 PTCH1 5727 broad.mit.edu 37 9 98244279 98244279 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:98244279T>C ENST00000331920.6 - 5 997 c.698A>G c.(697-699)gAc>gGc p.D233G PTCH1_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGAAGCAGTCCAAAGGTGT 0.433000 0 SO:0001583 missense ENST00000331920.6 1 1 hg19 CCDS6714.1 . . . . . . . . . . T 21.6 4.172541 0.78452 . . ENSG00000185920 ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630 D;D;D;D;D;D;D;D;D;D;D;D;D 0.98958 -5.21;-5.13;-5.03;-5.03;-5.13;-5.03;-5.27;-3.3;-3.3;-3.3;-3.3;-3.67;-2.88 5.97 5.97 0.96955 . 0.000000 0.85682 D 0.000000 D 0.99245 0.9737 M 0.88310 2.945 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;0.999 D 0.99305 1.0902 10 0.72032 D 0.01 -38.4377 16.4608 0.84044 0.0:0.0:0.0:1.0 . 167;232;233 Q13635-3;Q13635-2;Q13635 .;.;PTC1_HUMAN G 233;167;82;82;167;82;232;82;82;82;82;167;82 ENSP00000332353:D233G;ENSP00000389744:D167G;ENSP00000399981:D82G;ENSP00000396135:D82G;ENSP00000410287:D167G;ENSP00000414823:D82G;ENSP00000364423:D232G;ENSP00000447797:D82G;ENSP00000447008:D82G;ENSP00000447878:D82G;ENSP00000448843:D82G;ENSP00000449745:D167G;ENSP00000450131:D82G ENSP00000332353:D233G D - 2 0 PTCH1 97284100 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.698000 0.84413 2.288000 0.76882 0.533000 0.62120 GAC TCGA-F2-A8YN-01A-11D-A377-08 PTCH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053229.2 1 0 1 68 200 0 49 0 6.431038e-01 1 7 0 49 2 0 0 0 0 0 2 1 1.000000 66 198 0 48 2 0 0 0 0 49 2 -20.000000 1 1 0 0 1 0 0 0 2.093051 0 0.570000 1.800000 0.565041 0.870000 7.000000e-01 1.000000 1.000000 0.878946 0.870000 1 7.800000e-01 9.700000e-01 IRS4 8471 broad.mit.edu 37 X 107976904 107976904 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:107976904G>A ENST00000372129.2 - 1 2747 c.2671C>T c.(2671-2673)Cga>Tga p.R891* RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 78 AAAGAAAGTCGGTTAGGTCTC 0.443000 0 SO:0001587 stop_gained ENST00000372129.2 0 1 hg19 CCDS14544.1 . . . . . . . . . . G 26.2 4.715445 0.89112 . . ENSG00000133124 ENST00000372129 . . . 5.2 0.841 0.18918 . 1.187410 0.06301 N 0.701010 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 1.1902 9.9723 0.41761 0.0:0.0905:0.3551:0.5544 . . . . X 891 . ENSP00000361202:R891X R - 1 2 IRS4 107863560 0.027000 0.19231 0.001000 0.08648 0.010000 0.07245 0.452000 0.21795 0.138000 0.18790 -0.324000 0.08512 CGA TCGA-F2-A8YN-01A-11D-A377-08 IRS4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057879.1 0 0 0 8 697 0 162 0 0 0 0 162 2 0 0 0 0 0 2 1 0.988972 8 690 0 161 2 0 0 0 0 162 2 -2.069861 0 1 0 0 1 0 1 1 0.570000 1.800000 0.570000 0.010000 0 0.040000 0.020000 0.022383 0.010000 0 0 3.000000e-02 HTR2C 3358 broad.mit.edu 37 X 114141599 114141599 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:114141599T>A ENST00000276198.1 + 6 1726 c.998T>A c.(997-999)cTg>cAg p.L333Q HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q 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) ACCAATATTCTGTCTGTTCTT 0.383000 0 SO:0001583 missense ENST00000276198.1 1 1 hg19 CCDS14564.1 . . . . . . . . . . T 14.48 2.547060 0.45383 . . ENSG00000147246 ENST00000276198;ENST00000371951 T;T 0.44482 0.92;0.92 5.14 5.14 0.70334 GPCR, rhodopsin-like superfamily (1); 0.389101 0.26089 N 0.026406 T 0.69904 0.3163 M 0.93720 3.45 0.80722 D 1 D 0.58620 0.983 D 0.63703 0.917 T 0.77851 -0.2434 10 0.72032 D 0.01 . 12.0835 0.53684 0.0:0.0:0.0:1.0 . 333 P28335 5HT2C_HUMAN Q 333 ENSP00000276198:L333Q;ENSP00000361019:L333Q ENSP00000276198:L333Q L + 2 0 HTR2C 114047855 1.000000 0.71417 0.996000 0.52242 0.595000 0.36748 5.039000 0.64185 1.827000 0.53221 0.381000 0.24937 CTG TCGA-F2-A8YN-01A-11D-A377-08 HTR2C-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057962.1 1 0 1 144 264 0 93 0 0 0 0 93 2 0 0 0 0 0 2 1 1.000000 144 265 0 92 2 0 0 0 0 93 2 -20.000000 1 1 0 0 1 0 1 1 0.570000 1.800000 0.570000 0.610000 5.300000e-01 0.700000 0.620000 0.619312 0.610000 0 5.700000e-01 6.600000e-01 SLC25A6 293 broad.mit.edu 37 X 1508553 1508553 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:1508553C>T ENST00000381401.5 - 2 893 c.179G>A c.(178-180)cGc>cAc p.R60H SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) CTTGGGGATGCGGACAATGCA 0.607000 0 SO:0001583 missense ENST00000381401.5 0 1 hg19 CCDS14114.1 . . . . . . . . . . . 11.91 1.779028 0.31502 . . ENSG00000169100 ENST00000381401;ENST00000447786 T 0.79653 -1.29 1.69 0.758 0.18432 Mitochondrial carrier domain (2); 0.119084 0.30850 U 0.008748 T 0.75838 0.3904 M 0.74546 2.27 0.09310 N 1 P 0.48503 0.911 B 0.40534 0.332 T 0.69124 -0.5228 10 0.72032 D 0.01 . 8.0252 0.30434 0.0:0.8621:0.0:0.1379 . 60 P12236 ADT3_HUMAN H 60 ENSP00000370808:R60H ENSP00000370808:R60H R - 2 0 SLC25A6 1468553 0.998000 0.40836 0.656000 0.29637 0.231000 0.25187 5.923000 0.70045 0.027000 0.15297 0.165000 0.16767 CGC TCGA-F2-A8YN-01A-11D-A377-08 SLC25A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055596.1 0 0 0 5 482 0 99 0 9.965514e-01 0 1162 0 99 2 0 0 0 0 0 2 1 0.934736 5 473 0 99 2 0 0 0 0 99 2 -1.925356 0 1 0 0 1 0 1 1 0.570000 1.800000 0.570000 0.010000 0 0.040000 0.020000 0.021318 0.010000 0 0 3.000000e-02 DKC1 1736 broad.mit.edu 37 X 154001414 154001414 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:154001414T>A ENST00000369550.5 + 11 1255 c.1045T>A c.(1045-1047)Tta>Ata p.L349I SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGCTATTGCATTAATGACCAC 0.408000 Congenital Dyskeratosis 0 SO:0001583 missense Familial Cancer Database Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita ENST00000369550.5 1 1 hg19 CCDS14761.1 . . . . . . . . . . T 16.49 3.138074 0.56936 . . ENSG00000130826 ENST00000369550 D 0.95342 -3.68 5.7 -1.01 0.10169 Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1); 0.000000 0.64402 D 0.000001 D 0.93363 0.7884 M 0.87180 2.865 0.44085 D 0.996845 B;B 0.33637 0.42;0.42 B;B 0.36378 0.159;0.223 D 0.86175 0.1602 10 0.26408 T 0.33 -6.4408 10.7852 0.46401 0.0:0.5019:0.0:0.4981 . 349;349 A8MUT5;O60832 .;DKC1_HUMAN I 349 ENSP00000358563:L349I ENSP00000358563:L349I L + 1 2 DKC1 153654608 0.851000 0.29673 0.004000 0.12327 0.277000 0.26821 1.370000 0.34238 -0.567000 0.06046 -0.323000 0.08544 TTA TCGA-F2-A8YN-01A-11D-A377-08 DKC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000061180.5 1 0 0 20 336 0 66 1 9.617098e-01 5 88 0 66 2 0 0 0 0 0 2 1 0.999995 20 329 0 64 2 0 0 0 0 66 2 -19.998740 1 1 0 0 1 0 1 1 0.570000 1.800000 0.570000 0.090000 5.000000e-02 0.150000 0.100000 0.102685 0.090000 0 7.000000e-02 1.200000e-01