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 BSN 8927 broad.mit.edu 37 3 49662573 49662574 + In_Frame_Ins INS - - GTA TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:49662573_49662574insGTA ENST00000296452.4 + 2 504_505 c.390_391insGTA c.(391-393)gta>GTAgta p.131_131V>VV NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 106 GGACGCTGCAGGTAGACAGCAG 0.653000 0 SO:0001652 inframe_insertion ENST00000296452.4 0 1 hg19 CCDS2800.1 TCGA-FB-AAQ1-01A-12D-A40W-08 BSN-001 KNOWN NMD_exception|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000258164.1 1 0 0 29 167 0 46 0 0 0 0 0 0 0 0 0 0 0 0 1 1.000000 34 162 0 44 2 -20.000000 1 1 0 0 1 0 1 1 1.767646 1 0.390000 1.750000 0.256641 0.610000 4.300000e-01 0.830000 0.610000 0.628175 0.610000 0 0.510000 0.730000 MMP13 4322 broad.mit.edu 37 11 102826101 102826101 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:102826101C>T ENST00000260302.3 - 2 270 c.242G>A c.(241-243)gGc>gAc p.G81D MMP13_ENST00000340273.4_Missense_Mutation_p.G81D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Marimastat(DB00786) GTCAAGTTTGCCAGTCACCTC 0.473000 0 SO:0001583 missense ENST00000260302.3 0 1 hg19 CCDS8324.1 . . . . . . . . . . C 27.6 4.846161 0.91277 . . ENSG00000137745 ENST00000260302;ENST00000546012;ENST00000340273 D;D 0.90197 -2.63;-2.63 5.77 5.77 0.91146 Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.97111 0.9056 H 0.95816 3.725 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97478 1.0045 10 0.87932 D 0 . 20.3627 0.98863 0.0:1.0:0.0:0.0 . 81 P45452 MMP13_HUMAN D 81 ENSP00000260302:G81D;ENSP00000339672:G81D ENSP00000260302:G81D G - 2 0 MMP13 102331311 1.000000 0.71417 0.995000 0.50966 0.870000 0.49936 7.776000 0.85560 2.885000 0.99019 0.655000 0.94253 GGC TCGA-FB-AAQ1-01A-12D-A40W-08 MMP13-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000386648.1 0 0 0 6 763 0 136 0 0 0 0 136 2 0 0 0 0 0 2 1 0.964051 6 756 0 135 2 -1.926053 0 1 0 0 1 1 2 3 2.160636 0 0.390000 1.750000 0.399370 0.040000 0 1.000000 0.040000 0.108378 0.040000 0 0.020000 0.070000 PRDM10 56980 broad.mit.edu 37 11 129800938 129800938 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:129800938G>A ENST00000360871.3 - 11 1734 c.1503C>T c.(1501-1503)gaC>gaT p.D501D PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000358825.5_Silent_p.D501D|PRDM10_ENST00000526082.1_Silent_p.D415D|PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000423662.2_Silent_p.D415D NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) TGCGCATGTCGTCGGCTGTCA 0.622000 0 SO:0001819 synonymous_variant ENST00000360871.3 1 1 hg19 CCDS8484.1 TCGA-FB-AAQ1-01A-12D-A40W-08 PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386076.1 1 0 1 59 263 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 1.000000 57 255 0 40 2 -20.000000 1 1 0 0 1 1 2 3 2.160636 0 0.390000 1.750000 0.399370 0.960000 7.400000e-01 1.000000 1.000000 0.936461 0.960000 1 0.840000 1.000000 CD81 975 broad.mit.edu 37 11 2411735 2411735 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:2411735G>A ENST00000263645.5 + 2 416 c.160G>A c.(160-162)Gcg>Acg p.A54T CD81_ENST00000526072.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000524805.1_3'UTR NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) AGACAAGCCCGCGCCCAACAC 0.617000 0 SO:0001583 missense ENST00000263645.5 1 1 hg19 CCDS7734.1 . . . . . . . . . . G 17.25 3.341437 0.60963 . . ENSG00000110651 ENST00000263645;ENST00000533417;ENST00000527343;ENST00000493525;ENST00000381036;ENST00000492252 T;T;T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16;-1.16;-1.16 4.54 2.4 0.29515 . 0.596358 0.15996 N 0.234543 D 0.83248 0.5213 M 0.64997 1.995 0.39692 D 0.97106 D;D 0.71674 0.996;0.998 P;P 0.61275 0.774;0.886 D 0.84064 0.0376 10 0.62326 D 0.03 . 11.7463 0.51821 0.0:0.0:0.6812:0.3188 . 92;54 A6NMH8;P60033 .;CD81_HUMAN T 54;49;43;46;92;47 ENSP00000263645:A54T;ENSP00000435633:A49T;ENSP00000433767:A43T;ENSP00000432497:A46T;ENSP00000370424:A92T;ENSP00000432249:A47T ENSP00000263645:A54T A + 1 0 CD81 2368311 1.000000 0.71417 0.020000 0.16555 0.589000 0.36550 4.156000 0.58138 0.988000 0.38734 0.462000 0.41574 GCG TCGA-FB-AAQ1-01A-12D-A40W-08 CD81-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000027357.4 1 0 1 73 295 0 51 1 1 17 1284 0 51 2 0 0 0 0 0 2 1 1.000000 71 285 0 50 2 -20.000000 1 1 0 0 1 1 2 3 2.160636 0 0.390000 1.750000 0.399370 0.990000 8.300000e-01 1.000000 1.000000 0.975150 0.990000 1 0.920000 1.000000 TPCN2 219931 broad.mit.edu 37 11 68853221 68853221 + Splice_Site SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:68853221G>A ENST00000294309.3 + 21 2021 c.e21+1 TPCN2_ENST00000442692.2_Splice_Site|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGACTTTGCGGTGAGCCCTGC 0.687000 0 SO:0001630 splice_region_variant ENST00000294309.3 0 1 hg19 CCDS8189.1 . . . . . . . . . . G 14.53 2.563865 0.45694 . . ENSG00000162341 ENST00000294309 . . . 3.54 3.54 0.40534 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.4082 0.60926 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . TPCN2 68609797 1.000000 0.71417 0.830000 0.32933 0.498000 0.33706 6.125000 0.71627 1.998000 0.58463 0.561000 0.74099 . TCGA-FB-AAQ1-01A-12D-A40W-08 TPCN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396878.2 0 0 0 6 357 0 59 0 0 0 0 59 2 0 0 0 0 0 2 1 0.962813 6 349 0 58 2 -6.059544 1 1 0 0 1 1 2 3 2.160636 0 0.390000 1.750000 0.399370 0.090000 3.000000e-02 1.000000 0.080000 0.157410 0.090000 0 0.050000 0.150000 DNAH10 196385 broad.mit.edu 37 12 124397822 124397822 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:124397822G>A ENST00000409039.3 + 59 9983 c.9958G>A c.(9958-9960)Gca>Aca p.A3320T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) GCTGATTGCCGCAGACAAACT 0.537000 0 SO:0001583 missense ENST00000409039.3 1 1 hg19 CCDS9255.2 . . . . . . . . . . G 21.2 4.119935 0.77323 0.0 1.21E-4 ENSG00000197653 ENST00000409039 T 0.80214 -1.35 5.43 5.43 0.79202 Dynein heavy chain, coiled coil stalk (1); 0.116409 0.64402 D 0.000019 D 0.94026 0.8086 H 0.98027 4.13 0.80722 D 1 D 0.89917 1.0 D 0.79784 0.993 D 0.96078 0.9051 10 0.87932 D 0 . 19.2307 0.93839 0.0:0.0:1.0:0.0 . 3320 Q8IVF4 DYH10_HUMAN T 3320 ENSP00000386770:A3320T ENSP00000386770:A3320T A + 1 0 DNAH10 122963775 1.000000 0.71417 0.096000 0.21009 0.031000 0.12232 9.869000 0.99810 2.534000 0.85438 0.655000 0.94253 GCA TCGA-FB-AAQ1-01A-12D-A40W-08 DNAH10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335420.3 1 0 1 18 46 0 13 0 0 0 1 0 13 2 0 0 0 0 0 2 1 0.999993 18 45 0 13 2 -20.000000 1 1 120604 3 32 1 0 1 1 1.697700 1 0.390000 1.750000 0.242236 0.890000 6.400000e-01 1.000000 0.990000 0.881761 0.890000 1 0.780000 0.970000 GRIN2B 2904 broad.mit.edu 37 12 13717533 13717533 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:13717533C>T ENST00000609686.1 - 13 2848 c.2639G>A c.(2638-2640)cGc>cAc p.R880H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B p.R880P(1)|p.R880H(1) 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) TACAGACTGGCGCTCCTCGAT 0.537000 2 Substitution - Missense(2) SO:0001583 missense ENST00000609686.1 1 1 hg19 CCDS8662.1 . . . . . . . . . . C 14.90 2.672612 0.47781 . . ENSG00000150086 ENST00000279593 T 0.12465 2.68 5.3 4.41 0.53225 Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1); 0.277359 0.39687 N 0.001290 T 0.22244 0.0536 L 0.29908 0.895 0.52501 D 0.999953 D 0.58970 0.984 P 0.60236 0.871 T 0.01259 -1.1403 10 0.59425 D 0.04 . 13.8298 0.63373 0.0:0.9257:0.0:0.0743 . 880 Q13224 NMDE2_HUMAN H 880 ENSP00000279593:R880H ENSP00000279593:R880H R - 2 0 GRIN2B 13608800 1.000000 0.71417 1.000000 0.80357 0.723000 0.41478 3.986000 0.56937 1.238000 0.43771 0.563000 0.77884 CGC TCGA-FB-AAQ1-01A-12D-A40W-08 GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268014.2 1 0 1 104 523 0 93 0 0 0 0 93 2 0 0 0 0 0 2 1 1.000000 103 517 0 92 2 -20.000000 1 1 0 0 1 1 2 3 2.103429 0 0.390000 1.750000 0.391187 0.840000 7.000000e-01 1.000000 0.850000 0.854501 0.840000 0 0.770000 0.930000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-FB-AAQ1-01A-12D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 40 157 0 57 0 4.382169e-01 1 6 0 57 2 1 1 50 304 0 235 2 1 1.000000 39 156 0 57 2 -20.000000 1 1 121404 2 44 1 1 2 3 2.103429 0 0.390000 1.750000 0.391187 0.990000 7.700000e-01 1.000000 1.000000 0.964208 0.990000 1 0.900000 1.000000 TMTC1 83857 broad.mit.edu 37 12 29659861 29659861 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:29659861C>T ENST00000539277.1 - 18 2625 c.2567G>A c.(2566-2568)aGc>aAc p.S856N TMTC1_ENST00000256062.5_Missense_Mutation_p.S748N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N NM_001193451.1 NP_001180380.1 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CAGCAGTTTGCTGTCTGGAAC 0.443000 0 SO:0001583 missense ENST00000539277.1 0 1 hg19 CCDS53772.1 . . . . . . . . . . C 22.8 4.334993 0.81801 . . ENSG00000133687 ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277 T;T;T;T 0.64618 0.83;0.83;0.83;-0.11 5.28 4.38 0.52667 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.093694 0.85682 D 0.000000 T 0.63861 0.2547 L 0.35288 1.05 0.80722 D 1 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.87578 0.91;0.997;0.998 T 0.58457 -0.7633 10 0.02654 T 1 -24.6549 13.0775 0.59095 0.0:0.9199:0.0:0.0801 . 856;918;201 Q8IUR5;F8VTQ9;Q8IUR5-4 TMTC1_HUMAN;.;. N 619;748;918;880;856 ENSP00000256062:S748N;ENSP00000448112:S918N;ENSP00000449043:S880N;ENSP00000442046:S856N ENSP00000256062:S748N S - 2 0 TMTC1 29551128 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.779000 0.55379 2.463000 0.83235 0.650000 0.86243 AGC TCGA-FB-AAQ1-01A-12D-A40W-08 TMTC1-002 PUTATIVE basic|CCDS protein_coding protein_coding OTTHUMT00000403509.1 0 0 0 6 613 0 101 0 1.445139e-04 0 2 0 101 2 0 0 0 0 0 2 1 0.963673 6 605 0 101 2 -2.141482 0 1 0 0 1 1 2 3 2.103429 0 0.390000 1.750000 0.391187 0.050000 1.000000e-02 0.110000 0.050000 0.057794 0.050000 0 0.030000 0.080000 FGF6 2251 broad.mit.edu 37 12 4554550 4554550 + Missense_Mutation SNP C C T rs148657794 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:4554550C>T ENST00000228837.2 - 1 230 c.187G>A c.(187-189)Gcc>Acc p.A63T NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) GCTAGCCCGGCGCGAGACCTG 0.647000 0 SO:0001583 missense ENST00000228837.2 1 0 hg19 CCDS8527.1 5 0.0022893772893772895 0 0.0 0 0.0 0 0.0 5 0.006596306068601583 C 6.607 0.480375 0.12581 2.27E-4 3.49E-4 ENSG00000111241 ENST00000228837 T 0.25749 1.78 5.0 1.03 0.20045 . 0.553031 0.20578 N 0.089588 T 0.09598 0.0236 L 0.28400 0.85 0.09310 N 1 B 0.22146 0.065 B 0.18561 0.022 T 0.24225 -1.0166 10 0.20046 T 0.44 . 4.459 0.11657 0.2636:0.5167:0.0:0.2197 . 63 P10767 FGF6_HUMAN T 63 ENSP00000228837:A63T ENSP00000228837:A63T A - 1 0 FGF6 4424811 0.488000 0.25996 0.000000 0.03702 0.202000 0.24057 1.105000 0.31086 -0.013000 0.14199 -0.254000 0.11334 GCC TCGA-FB-AAQ1-01A-12D-A40W-08 FGF6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398939.1 1 0 1 188 466 0 95 0 0 0 0 95 2 0 0 0 0 0 2 1 1.000000 183 458 0 92 2 -2.716734 1 1 121412 319 57 1 1 2 3 2.506778 1 0.390000 1.750000 0.489540 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 FAM19A2 338811 broad.mit.edu 37 12 62148670 62148670 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:62148670G>T ENST00000416284.3 - 3 1826 c.242C>A c.(241-243)gCt>gAt p.A81D FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 15 GBM - Glioblastoma multiforme(1;0.00484) ACATGATGGAGCAGCTCGCGT 0.498000 0 SO:0001583 missense ENST00000416284.3 1 1 hg19 CCDS8962.1 . . . . . . . . . . G 14.39 2.519733 0.44866 . . ENSG00000198673 ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780 . . . 5.21 5.21 0.72293 . 0.000000 0.85682 D 0.000000 T 0.57286 0.2043 L 0.36672 1.1 0.80722 D 1 B 0.32010 0.351 B 0.36534 0.227 T 0.53099 -0.8486 8 . . . . 18.8508 0.92227 0.0:0.0:1.0:0.0 . 81 Q8N3H0 F19A2_HUMAN D 81;81;82;88;82 . . A - 2 0 FAM19A2 60434937 1.000000 0.71417 1.000000 0.80357 0.402000 0.30811 5.381000 0.66208 2.455000 0.83008 0.558000 0.71614 GCT TCGA-FB-AAQ1-01A-12D-A40W-08 FAM19A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407967.2 1 0 1 47 164 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 1.000000 46 159 0 46 2 -20.000000 1 1 0 0 1 1 2 3 2.103429 0 0.390000 1.750000 0.391187 0.990000 8.700000e-01 1.000000 1.000000 0.989530 0.990000 1 0.990000 1.000000 SLC7A7 9056 broad.mit.edu 37 14 23244654 23244654 + Splice_Site SNP T T A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:23244654T>A ENST00000397532.3 - 7 1619 c.1094A>T c.(1093-1095)aAt>aTt p.N365I SLC7A7_ENST00000555702.1_Splice_Site_p.N365I|SLC7A7_ENST00000397529.2_Splice_Site_p.N365I|SLC7A7_ENST00000285850.7_Splice_Site_p.N365I|SLC7A7_ENST00000397528.4_Splice_Site_p.N365I|SLC7A7_ENST00000554517.1_Splice_Site_p.N99I|SLC7A7_ENST00000554061.1_5'UTR Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 20 all_cancers(95;8.44e-05) TTCACTTACATTGAAGAGCAG 0.473000 0 SO:0001630 splice_region_variant ENST00000397532.3 1 0 hg19 CCDS9574.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 20.9|20.9 4.059783|4.059783 0.76074|0.76074 .|. .|. ENSG00000155465|ENSG00000155465 ENST00000556350|ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517 .|D;D;D;D;D;D .|0.89050 .|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46 5.73|5.73 5.73|5.73 0.89815|0.89815 .|Amino acid permease domain (1); .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.93861|0.93861 0.8036|0.8036 M|M 0.80982|0.80982 2.52|2.52 0.80722|0.80722 D|D 1|1 .|D .|0.71674 .|0.998 .|D .|0.77004 .|0.989 D|D 0.92497|0.92497 0.6005|0.6005 5|10 .|0.22706 .|T .|0.39 .|. 14.9941|14.9941 0.71415|0.71415 0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0 .|. .|365 .|Q9UM01 .|YLAT1_HUMAN F|I 80|365;365;365;338;365;365;99 .|ENSP00000285850:N365I;ENSP00000451881:N365I;ENSP00000380666:N365I;ENSP00000380663:N365I;ENSP00000380662:N365I;ENSP00000452083:N99I .|ENSP00000285850:N365I I|N -|- 1|2 0|0 SLC7A7|SLC7A7 22314494|22314494 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.474000|0.474000 0.32979|0.32979 7.658000|7.658000 0.83755|0.83755 2.187000|2.187000 0.69744|0.69744 0.460000|0.460000 0.39030|0.39030 ATC|AAT TCGA-FB-AAQ1-01A-12D-A40W-08 SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071636.3 1 0 1 47 333 0 68 1 9.999963e-01 16 117 0 68 2 0 0 0 0 0 2 1 1.000000 47 331 0 67 2 -20.000000 1 1 0 0 1 0 1 1 1.930017 0 0.390000 1.750000 0.329891 0.570000 4.300000e-01 0.730000 0.570000 0.583453 0.570000 0 0.490000 0.660000 FBXO33 254170 broad.mit.edu 37 14 39868915 39868915 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:39868915G>A ENST00000298097.7 - 4 1810 c.1473C>T c.(1471-1473)acC>acT p.T491T FBXO33_ENST00000554190.1_3'UTR NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) TGCTTTCTTCGGTGACTTCAA 0.478000 0 SO:0001819 synonymous_variant ENST00000298097.7 1 1 hg19 CCDS9677.1 TCGA-FB-AAQ1-01A-12D-A40W-08 FBXO33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276769.2 1 0 1 16 108 0 41 1 7.000951e-01 2 16 0 41 2 0 0 0 0 0 2 1 0.999951 16 107 0 41 2 -2.652772 1 1 121412 3 34 1 0 1 1 1.930017 0 0.390000 1.750000 0.329891 0.600000 3.600000e-01 0.890000 0.590000 0.619172 0.600000 0 0.470000 0.750000 DNAH3 55567 broad.mit.edu 37 16 20975272 20975272 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:20975272C>T ENST00000261383.3 - 53 9933 c.9934G>A c.(9934-9936)Gcc>Acc p.A3312T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 202 TCGATGTTGGCCAGGTCCGAG 0.507000 0 SO:0001583 missense ENST00000261383.3 1 1 hg19 CCDS10594.1 . . . . . . . . . . C 17.53 3.411746 0.62399 . . ENSG00000158486 ENST00000261383 T 0.54479 0.57 5.93 5.93 0.95920 . 0.000000 0.85682 D 0.000000 T 0.72993 0.3530 M 0.72894 2.215 0.80722 D 1 D 0.89917 1.0 D 0.68353 0.957 T 0.72181 -0.4368 10 0.54805 T 0.06 . 20.3363 0.98740 0.0:1.0:0.0:0.0 . 3312 Q8TD57 DYH3_HUMAN T 3312 ENSP00000261383:A3312T ENSP00000261383:A3312T A - 1 0 DNAH3 20882773 1.000000 0.71417 1.000000 0.80357 0.677000 0.39632 3.964000 0.56780 2.814000 0.96858 0.563000 0.77884 GCC TCGA-FB-AAQ1-01A-12D-A40W-08 DNAH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207361.1 0 0 0 17 455 1 90 0 0 0 1 90 2 0 0 0 0 0 2 0 0.479357 17 448 1 90 18 -3.657397 1 1 0 0 1 2 2 4 2.197270 0 0.390000 1.750000 0.417272 0.200000 1.100000e-01 1.000000 0.200000 0.280266 0.200000 0 0.150000 0.280000 C18orf8 29919 broad.mit.edu 37 18 21099089 21099089 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:21099089C>T ENST00000269221.3 + 9 910 c.800C>T c.(799-801)gCc>gTc p.A267V C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGAAAGTTTGCCCTGAACGTG 0.428000 0 SO:0001583 missense ENST00000269221.3 0 1 hg19 CCDS32803.1 . . . . . . . . . . C 35 5.469800 0.96274 . . ENSG00000141452 ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734 . . . 5.52 5.52 0.82312 . 0.000000 0.85682 D 0.000000 D 0.84379 0.5459 M 0.85859 2.78 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.996;0.998 D 0.85396 0.1128 9 0.52906 T 0.07 -16.5741 19.4282 0.94754 0.0:1.0:0.0:0.0 . 267;219 Q96DM3;F5H2W0 MIC1_HUMAN;. V 267;110;219;110 . ENSP00000269221:A267V A + 2 0 C18orf8 19353087 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 7.421000 0.80204 2.599000 0.87857 0.491000 0.48974 GCC TCGA-FB-AAQ1-01A-12D-A40W-08 C18orf8-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445386.1 0 0 0 6 344 0 53 0 7.496300e-02 0 22 0 53 2 0 0 0 0 0 2 1 0.963069 6 337 0 53 2 -2.631405 1 1 0 0 1 1 2 3 2.158149 0 0.390000 1.750000 0.399370 0.090000 3.000000e-02 1.000000 0.090000 0.160831 0.090000 0 0.060000 0.160000 SMCHD1 23347 broad.mit.edu 37 18 2666912 2666912 + Silent SNP G G A rs7229488 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:2666912G>A ENST00000320876.6 + 3 644 c.306G>A c.(304-306)tcG>tcA p.S102S SMCHD1_ENST00000261598.8_Silent_p.S102S NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 45 TGCTACAGTCGGTCAATCAGT 0.388000 0 SO:0001819 synonymous_variant ENST00000320876.6 1 1 hg19 CCDS45822.1 TCGA-FB-AAQ1-01A-12D-A40W-08 SMCHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441082.2 1 0 1 32 132 0 25 0 0 0 0 25 2 0 0 0 0 0 2 1 1.000000 31 129 0 25 2 -2.965284 1 1 120840 25 44 1 1 2 3 2.158149 0 0.390000 1.750000 0.399370 0.990000 7.300000e-01 1.000000 1.000000 0.952232 0.990000 1 0.860000 1.000000 PIAS2 9063 broad.mit.edu 37 18 44470558 44470558 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:44470558T>C ENST00000585916.1 - 2 483 c.484A>G c.(484-486)Aag>Gag p.K162E PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E|PIAS2_ENST00000545673.1_Intron NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 22 CTCGTGGGCTTGATGAGAACA 0.398000 0 SO:0001583 missense ENST00000585916.1 0 1 hg19 CCDS32824.1 . . . . . . . . . . T 16.75 3.208609 0.58343 . . ENSG00000078043 ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794 T 0.44482 0.92 6.16 6.16 0.99307 PINIT domain (1); 0.000000 0.85682 D 0.000000 T 0.61949 0.2388 M 0.66297 2.02 0.80722 D 1 D;B;B;B 0.64830 0.994;0.098;0.037;0.357 P;B;B;P 0.62560 0.904;0.364;0.085;0.6 T 0.64550 -0.6381 10 0.87932 D 0 -12.525 16.8061 0.85666 0.0:0.0:0.0:1.0 . 166;162;162;162 O75928-3;Q2TA77;O75928-2;O75928 .;.;.;PIAS2_HUMAN E 162;162;158;162 ENSP00000317163:K162E ENSP00000262161:K162E K - 1 0 PIAS2 42724556 1.000000 0.71417 1.000000 0.80357 0.799000 0.45148 8.013000 0.88655 2.367000 0.80283 0.528000 0.53228 AAG TCGA-FB-AAQ1-01A-12D-A40W-08 PIAS2-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445656.2 0 0 0 4 165 0 19 0 9.402564e-03 0 5 0 19 2 0 0 0 0 0 2 1 0.884143 4 160 0 19 2 -3.458168 1 1 0 0 1 1 2 3 2.158149 0 0.390000 1.750000 0.399370 0.140000 4.000000e-02 1.000000 0.120000 0.205562 0.140000 0 0.080000 0.240000 CILP2 148113 broad.mit.edu 37 19 19655586 19655586 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:19655586C>T ENST00000291495.5 + 8 2317 c.2232C>T c.(2230-2232)taC>taT p.Y744Y CILP2_ENST00000586018.1_Silent_p.Y750Y NM_153221.2 NP_694953.2 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 32 TGCGCGCCTACGCCAACGACA 0.682000 0 SO:0001819 synonymous_variant ENST00000291495.5 1 1 hg19 CCDS12405.1 TCGA-FB-AAQ1-01A-12D-A40W-08 CILP2-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000459738.3 1 0 1 18 130 0 31 0 0 0 1 0 31 2 0 0 0 0 0 2 1 0.999982 18 124 0 30 2 -20.000000 1 1 0 0 1 0 1 1 1.929368 0 0.390000 1.750000 0.334170 0.570000 3.500000e-01 0.830000 0.570000 0.587051 0.570000 0 0.450000 0.710000 LRFN1 57622 broad.mit.edu 37 19 39804696 39804696 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:39804696C>T ENST00000248668.4 - 1 1280 c.1281G>A c.(1279-1281)cgG>cgA p.R427R CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CTGCCACGAGCCGACGCTCAG 0.677000 0 SO:0001819 synonymous_variant ENST00000248668.4 0 1 hg19 CCDS46071.1 TCGA-FB-AAQ1-01A-12D-A40W-08 LRFN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463835.1 0 0 0 4 151 0 36 0 6.838349e-03 0 4 0 36 2 0 0 0 0 0 2 1 0.861800 4 134 0 27 2 -6.661661 1 1 0 0 1 0 1 1 1.929368 0 0.390000 1.750000 0.334170 0.130000 4.000000e-02 0.280000 0.120000 0.147713 0.130000 0 0.070000 0.210000 GYS1 2997 broad.mit.edu 37 19 49485993 49485993 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:49485993G>A ENST00000323798.3 - 6 1121 c.925C>T c.(925-927)Cgg>Tgg p.R309W GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) AAATGGCCCCGCACAAACTCC 0.542000 0 SO:0001583 missense ENST00000323798.3 0 1 hg19 CCDS12747.1 . . . . . . . . . . G 18.93 3.728447 0.69074 . . ENSG00000104812 ENST00000323798;ENST00000263276;ENST00000541188 T;T;T 0.73363 -0.74;-0.74;-0.74 4.98 3.88 0.44766 . 0.000000 0.85682 D 0.000000 D 0.87346 0.6154 M 0.91920 3.255 0.80722 D 1 D;D;D 0.89917 1.0;0.999;0.999 D;D;D 0.77557 0.99;0.95;0.967 D 0.89154 0.3525 10 0.87932 D 0 -25.235 11.3306 0.49473 0.0:0.0:0.7259:0.2741 . 229;245;309 B7Z806;Q9BTT9;P13807 .;.;GYS1_HUMAN W 309;245;229 ENSP00000317904:R309W;ENSP00000263276:R245W;ENSP00000437922:R229W ENSP00000263276:R245W R - 1 2 GYS1 54177805 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.141000 0.58038 2.491000 0.84063 0.561000 0.74099 CGG TCGA-FB-AAQ1-01A-12D-A40W-08 GYS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319791.1 0 0 0 6 527 0 91 0 1.482832e-01 0 51 0 91 2 0 0 0 0 0 2 1 0.963693 6 520 0 91 2 -1.981527 0 1 121412 1 36 1 0 1 1 1.939901 0 0.390000 1.750000 0.338395 0.050000 1.000000e-02 0.110000 0.050000 0.061650 0.050000 0 0.030000 0.080000 HAS1 3036 broad.mit.edu 37 19 52217079 52217079 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:52217079C>T ENST00000222115.1 - 5 1372 c.1338G>A c.(1336-1338)gcG>gcA p.A446A HAS1_ENST00000601714.1_Silent_p.A453A|HAS1_ENST00000540069.2_Silent_p.A445A NM_001523.2 NP_001514.2 Q92839 HYAS1_HUMAN hyaluronan synthase 1 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) CCGCGAAGGCCGCCTTGGCCA 0.697000 NSCLC(132;636 2450 45807 47979) 0 SO:0001819 synonymous_variant ENST00000222115.1 0 1 hg19 CCDS12838.1 TCGA-FB-AAQ1-01A-12D-A40W-08 HAS1-005 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000466953.1 1 0 1 12 66 0 22 0 0 0 0 22 2 0 0 0 0 0 2 1 0.999131 10 65 0 22 2 -19.976910 1 1 120190 1 28 1 0 1 1 1.939901 0 0.390000 1.750000 0.338395 0.720000 4.100000e-01 1.000000 1.000000 0.738741 0.720000 0 0.550000 0.930000 ZSCAN18 65982 broad.mit.edu 37 19 58600197 58600197 + Silent SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:58600197C>A ENST00000240727.6 - 3 810 c.411G>T c.(409-411)ctG>ctT p.L137L ZSCAN18_ENST00000600404.1_Silent_p.L193L|ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000421612.2_Silent_p.L2L NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) GGGAGCCCAGCAGCATCCCTG 0.602000 0 SO:0001819 synonymous_variant ENST00000240727.6 1 1 hg19 CCDS12971.1 TCGA-FB-AAQ1-01A-12D-A40W-08 ZSCAN18-003 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000466706.1 1 0 1 37 240 0 49 0 8.880776e-01 0 27 0 49 2 0 0 0 0 0 2 1 1.000000 37 237 0 49 2 -20.000000 1 1 121408 1 31 1 0 1 1 1.940535 0 0.390000 1.750000 0.346685 0.630000 4.600000e-01 0.830000 0.640000 0.647717 0.630000 0 0.540000 0.740000 PRAM1 84106 broad.mit.edu 37 19 8564207 8564207 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:8564207G>A ENST00000423345.4 - 2 1005 c.485C>T c.(484-486)gCg>gTg p.A162V PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 19 CCGGGCCGGCGCACCAGGCTC 0.672000 0 SO:0001583 missense ENST00000423345.4 0 1 hg19 CCDS45954.2 . . . . . . . . . . G 9.207 1.029946 0.19512 . . ENSG00000133246 ENST00000255612;ENST00000423345 T;T 0.16324 2.35;2.35 3.36 -2.6 0.06190 . 3.218910 0.00964 N 0.003140 T 0.05823 0.0152 N 0.08118 0 0.09310 N 1 P;P 0.39022 0.516;0.655 B;B 0.28709 0.026;0.093 T 0.13361 -1.0512 10 0.17832 T 0.49 . 1.8153 0.03099 0.1117:0.1719:0.3659:0.3506 . 162;210 Q96QH2-2;Q96QH2 .;PRAM_HUMAN V 162 ENSP00000255612:A162V;ENSP00000408342:A162V ENSP00000255612:A162V A - 2 0 PRAM1 8470207 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.630000 0.05502 -0.457000 0.07033 0.591000 0.81541 GCG TCGA-FB-AAQ1-01A-12D-A40W-08 PRAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000397040.3 1 0 0 12 98 0 14 0 4.086636e-01 0 12 0 14 2 0 0 0 0 0 2 1 0.999116 12 94 0 14 2 -18.992210 1 1 0 0 1 0 1 1 1.929368 0 0.390000 1.750000 0.334170 0.510000 2.800000e-01 0.810000 0.500000 0.535414 0.510000 0 0.390000 0.670000 ZNF560 147741 broad.mit.edu 37 19 9577789 9577789 + Missense_Mutation SNP G G A rs145243922 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:9577789G>A ENST00000301480.4 - 10 2047 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 p.R612C(1) 65 AGATCTGAGCGTTCTGTGAAG 0.418000 1 Substitution - Missense(1) SO:0001583 missense ENST00000301480.4 1 1 hg19 CCDS12214.1 . . . . . . . . . . G 16.87 3.241694 0.58995 0.0 3.49E-4 ENSG00000198028 ENST00000301480 T 0.16073 2.37 1.89 0.846 0.18955 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.21550 0.0519 L 0.49455 1.56 0.09310 N 1 D 0.76494 0.999 P 0.53954 0.738 T 0.11348 -1.0591 9 0.38643 T 0.18 . 4.7062 0.12851 0.8013:0.0:0.1987:0.0 . 612 Q96MR9 ZN560_HUMAN C 612 ENSP00000301480:R612C ENSP00000301480:R612C R - 1 0 ZNF560 9438789 0.000000 0.05858 0.000000 0.03702 0.905000 0.53344 -0.740000 0.04861 0.199000 0.20427 0.313000 0.20887 CGC TCGA-FB-AAQ1-01A-12D-A40W-08 ZNF560-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449901.1 1 0 1 54 491 0 125 0 0 0 0 125 2 0 0 0 0 0 2 1 1.000000 54 482 0 124 2 -16.614390 1 1 121408 15 47 1 0 1 1 1.929368 0 0.390000 1.750000 0.334170 0.460000 3.500000e-01 0.590000 0.460000 0.470673 0.460000 0 0.400000 0.530000 FLG 2312 broad.mit.edu 37 1 152282228 152282228 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:152282228G>A ENST00000368799.1 - 3 5169 c.5134C>T c.(5134-5136)Cga>Tga p.R1712* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGACCCTCGGTTTCCACTG 0.587000 Ichthyosis 0 SO:0001587 stop_gained Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris ENST00000368799.1 0 1 hg19 CCDS30860.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 41 8.752868 0.98941 . . ENSG00000143631 ENST00000368799 . . . 3.51 -1.23 0.09465 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.14252 T 0.57 . 1.6399 0.02750 0.1149:0.1803:0.3369:0.3679 . . . . X 1712 . ENSP00000357789:R1712X R - 1 2 FLG 150548852 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.579000 0.00907 -0.196000 0.10366 -0.840000 0.03056 CGA TCGA-FB-AAQ1-01A-12D-A40W-08 FLG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033742.1 1 0 0 250 1100 0 298 0 0 0 1 0 298 2 0 0 0 0 0 2 1 1.000000 249 1080 0 296 2 -2.882255 1 1 121412 1 45 1 0 0 0 2.081284 0 0.390000 1.750000 0.385205 0.930000 8.300000e-01 1.000000 1.000000 0.939160 0.930000 1 0.880000 1.000000 ATP8B2 57198 broad.mit.edu 37 1 154316375 154316375 + Missense_Mutation SNP G G A rs141457358 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:154316375G>A ENST00000368489.3 + 18 1864 c.1864G>A c.(1864-1866)Gca>Aca p.A622T NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 IL6R/ATP8B2(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGAGTACGCAGGGGAAGG 0.592000 0 SO:0001583 missense ENST00000368489.3 1 1 hg19 CCDS1066.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 19.57 3.852315 0.71719 0.0 1.16E-4 ENSG00000143515 ENST00000368489 D 0.86297 -2.1 5.64 5.64 0.86602 . 0.059984 0.64402 D 0.000004 D 0.95865 0.8654 H 0.96889 3.9 0.80722 D 1 D 0.89917 1.0 D 0.77004 0.989 D 0.96491 0.9364 10 0.87932 D 0 . 18.4499 0.90700 0.0:0.0:1.0:0.0 . 622 P98198-3 . T 622 ENSP00000357475:A622T ENSP00000357475:A622T A + 1 0 ATP8B2 152582999 1.000000 0.71417 0.288000 0.24862 0.015000 0.08874 9.657000 0.98554 2.937000 0.99478 0.650000 0.86243 GCA TCGA-FB-AAQ1-01A-12D-A40W-08 ATP8B2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087658.2 1 0 1 44 198 0 29 0 5.710564e-01 0 10 0 29 2 0 0 0 0 0 2 1 1.000000 44 196 0 29 2 -3.448627 1 1 121410 2 35 1 0 0 0 2.081284 0 0.390000 1.750000 0.385205 0.920000 6.900000e-01 1.000000 1.000000 0.908201 0.920000 1 0.800000 1.000000 OXCT2 64064 broad.mit.edu 37 1 40236249 40236249 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:40236249C>T ENST00000327582.5 - 1 771 c.679G>A c.(679-681)Gcc>Acc p.A227T BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) AAATTGCGGGCGCTTCTCCTG 0.622000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000327582.5 0 1 hg19 CCDS445.1 . . . . . . . . . . c 18.39 3.614569 0.66672 . . ENSG00000198754 ENST00000327582;ENST00000542949 D 0.88201 -2.35 2.58 1.63 0.23807 . 0.055777 0.64402 U 0.000001 D 0.90628 0.7061 . . . 0.58432 D 0.999999 D;D 0.67145 0.996;0.996 P;P 0.58660 0.843;0.843 D 0.88046 0.2784 9 0.41790 T 0.15 . 8.6338 0.33935 0.23:0.7699:0.0:0.0 . 227;227 B3KS89;Q9BYC2 .;SCOT2_HUMAN T 227 ENSP00000361914:A227T ENSP00000361914:A227T A - 1 0 OXCT2 40008836 1.000000 0.71417 0.145000 0.22337 0.003000 0.03518 3.115000 0.50391 0.610000 0.30035 0.604000 0.83254 GCC TCGA-FB-AAQ1-01A-12D-A40W-08 OXCT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025656.1 1 0 0 38 331 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 1.000000 36 299 0 74 2 -20.000000 1 1 0 0 1 0 1 1 2.100853 0 0.390000 1.750000 0.388808 0.520000 3.800000e-01 0.690000 0.520000 0.535746 0.520000 0 0.440000 0.610000 TMEM59 9528 broad.mit.edu 37 1 54518728 54518728 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:54518728G>A ENST00000234831.5 - 1 383 c.134C>T c.(133-135)aCg>aTg p.T45M TCEANC2_ENST00000234827.1_5'Flank|TCEANC2_ENST00000371331.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M NM_004872.3 NP_004863.2 Q9BXS4 TMM59_HUMAN transmembrane protein 59 7 GCAAGACGCCGTATCACCCAA 0.657000 0 SO:0001583 missense ENST00000234831.5 0 1 hg19 CCDS586.1 . . . . . . . . . . G 17.08 3.296523 0.60086 . . ENSG00000116209 ENST00000234831;ENST00000371338;ENST00000452421;ENST00000371337 T;T;T 0.53423 0.63;0.63;0.62 5.12 5.12 0.69794 . 0.049713 0.85682 D 0.000000 T 0.61640 0.2363 L 0.50333 1.59 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.68621 0.925;0.959;0.931;0.953 T 0.63287 -0.6671 10 0.72032 D 0.01 -9.1589 14.3713 0.66840 0.0:0.1476:0.8524:0.0 . 45;45;45;45 E9PGZ9;Q5T704;D3DQ48;Q9BXS4 .;.;.;TMM59_HUMAN M 45 ENSP00000234831:T45M;ENSP00000397772:T45M;ENSP00000360388:T45M ENSP00000234831:T45M T - 2 0 TMEM59 54291316 1.000000 0.71417 0.989000 0.46669 0.173000 0.22820 7.028000 0.76470 2.653000 0.90120 0.655000 0.94253 ACG TCGA-FB-AAQ1-01A-12D-A40W-08 TMEM59-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000023254.2 0 0 0 6 288 0 51 0 9.990584e-01 0 728 0 51 2 0 0 0 0 0 2 1 0.962718 5 282 0 50 2 -3.041771 1 1 0 0 1 0 1 1 2.100853 0 0.390000 1.750000 0.388808 0.100000 4.000000e-02 0.210000 0.100000 0.120396 0.100000 0 0.070000 0.160000 AVP 551 broad.mit.edu 37 20 3065237 3065237 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:3065237G>A ENST00000380293.3 - 1 133 c.84C>T c.(82-84)ggC>ggT p.G28G NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 3 CCCTCTTGCCGCCCCTCGGGC 0.647000 0 SO:0001819 synonymous_variant ENST00000380293.3 1 1 hg19 CCDS13045.1 TCGA-FB-AAQ1-01A-12D-A40W-08 AVP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077713.2 1 0 1 84 632 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 1.000000 83 612 0 109 2 -20.000000 1 1 121412 2 39 1 0 1 1 1.939743 0 0.390000 1.750000 0.335584 0.540000 4.400000e-01 0.660000 0.550000 0.555838 0.540000 0 0.490000 0.610000 PTPN1 5770 broad.mit.edu 37 20 49195731 49195731 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:49195731C>T ENST00000371621.3 + 7 903 c.729C>T c.(727-729)tcC>tcT p.S243S RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.S170S NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 p.S243S(1) 16 Lung NSC(126;0.163) Tiludronate(DB01133) ACCCTTCTTCCGTTGATATCA 0.483000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000371621.3 1 1 hg19 CCDS13430.1 TCGA-FB-AAQ1-01A-12D-A40W-08 PTPN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079694.2 1 0 1 87 591 0 125 1 9.782649e-01 6 37 0 125 2 0 0 0 0 0 2 1 1.000000 85 584 0 125 2 -2.578431 1 1 0 0 1 0 1 1 2.022946 0 0.390000 1.750000 0.357421 0.620000 5.000000e-01 0.750000 0.620000 0.628335 0.620000 0 0.560000 0.690000 SGSM1 129049 broad.mit.edu 37 22 25294312 25294312 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:25294312C>T ENST00000400359.4 + 20 2568 c.2561C>T c.(2560-2562)aCg>aTg p.T854M SGSM1_ENST00000400358.4_Missense_Mutation_p.T799M|SNORD56_ENST00000362913.1_RNA NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 41 ATGTCCATCACGGGCAGCCTG 0.612000 0 SO:0001583 missense ENST00000400359.4 1 1 hg19 CCDS46674.1 . . . . . . . . . . C 10.37 1.330557 0.24167 0.0 1.17E-4 ENSG00000167037 ENST00000403206;ENST00000400358;ENST00000400359 T;T 0.07114 3.22;3.23 5.24 4.21 0.49690 Rab-GAP/TBC domain (2); 0.677319 0.14164 U 0.337193 T 0.10121 0.0248 L 0.34521 1.04 0.09310 N 1 P;P;D;P 0.59767 0.851;0.54;0.986;0.923 B;B;P;B 0.47206 0.204;0.023;0.541;0.266 T 0.17440 -1.0369 10 0.42905 T 0.14 -0.2681 11.6566 0.51322 0.1388:0.7275:0.1338:0.0 . 799;854;871;854 Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1 .;.;.;SGSM1_HUMAN M 854;799;854 ENSP00000383211:T799M;ENSP00000383212:T854M ENSP00000383211:T799M T + 2 0 SGSM1 23624312 0.004000 0.15560 0.388000 0.26195 0.808000 0.45660 1.049000 0.30392 1.327000 0.45338 0.591000 0.81541 ACG TCGA-FB-AAQ1-01A-12D-A40W-08 SGSM1-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000320282.1 1 0 1 54 176 0 42 0 2.394316e-01 0 4 0 42 2 0 0 0 0 0 2 1 1.000000 54 173 0 39 2 -20.000000 1 1 121242 3 38 1 0 1 1 1.777601 1 0.390000 1.750000 0.245889 0.910000 7.300000e-01 1.000000 1.000000 0.909661 0.910000 1 0.820000 0.990000 SAMM50 25813 broad.mit.edu 37 22 44384997 44384997 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:44384997A>G ENST00000350028.4 + 13 1239 c.1082A>G c.(1081-1083)tAc>tGc p.Y361C SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TTAGGAGACTACCTAGGTGGA 0.517000 0 SO:0001583 missense ENST00000350028.4 1 1 hg19 CCDS14055.1 . . . . . . . . . . A 15.97 2.988993 0.53934 . . ENSG00000100347 ENST00000350028;ENST00000396202 T;T 0.42131 0.98;0.98 4.21 4.21 0.49690 Bacterial surface antigen (D15) (1); 0.063355 0.64402 D 0.000004 T 0.50888 0.1642 L 0.40543 1.245 0.80722 D 1 B;D 0.55385 0.022;0.971 B;P 0.62649 0.021;0.905 T 0.48305 -0.9047 10 0.41790 T 0.15 -20.455 12.8072 0.57619 1.0:0.0:0.0:0.0 . 166;361 B3KUE6;Q9Y512 .;SAM50_HUMAN C 361;151 ENSP00000345445:Y361C;ENSP00000379505:Y151C ENSP00000345445:Y361C Y + 2 0 SAMM50 42716330 1.000000 0.71417 1.000000 0.80357 0.813000 0.45954 5.497000 0.66924 1.682000 0.51000 0.528000 0.53228 TAC TCGA-FB-AAQ1-01A-12D-A40W-08 SAMM50-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318898.2 1 0 1 130 383 0 98 1 1 39 45 0 98 2 0 0 0 0 0 2 1 1.000000 127 375 0 98 2 -20.000000 1 1 0 0 1 0 1 1 1.776780 1 0.390000 1.750000 0.249508 0.980000 8.700000e-01 1.000000 1.000000 0.975070 0.980000 1 0.930000 1.000000 HECW2 57520 broad.mit.edu 37 2 197187274 197187274 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:197187274C>T ENST00000260983.3 - 7 994 c.812G>A c.(811-813)cGt>cAt p.R271H HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 113 GATGATGGGACGGCTCTTGGC 0.423000 0 SO:0001583 missense ENST00000260983.3 1 1 hg19 CCDS33354.1 . . . . . . . . . . C 32 5.137069 0.94517 . . ENSG00000138411 ENST00000260983 T 0.46451 0.87 5.49 4.6 0.57074 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.191653 0.47455 D 0.000223 T 0.44973 0.1319 M 0.75447 2.3 0.58432 D 0.999998 B 0.29627 0.252 B 0.26614 0.071 T 0.51741 -0.8667 10 0.87932 D 0 . 14.9482 0.71050 0.0:0.9304:0.0:0.0696 . 271 Q9P2P5 HECW2_HUMAN H 271 ENSP00000260983:R271H ENSP00000260983:R271H R - 2 0 HECW2 196895519 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.912000 0.69948 2.878000 0.98634 0.650000 0.86243 CGT TCGA-FB-AAQ1-01A-12D-A40W-08 HECW2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335199.3 1 0 1 64 518 0 128 0 0 0 0 128 2 0 0 0 0 0 2 1 1.000000 63 511 0 128 2 -19.960200 1 1 0 0 1 0 1 1 1.946150 0 0.390000 1.750000 0.331324 0.510000 4.000000e-01 0.630000 0.510000 0.518889 0.510000 0 0.450000 0.580000 FZD7 8324 broad.mit.edu 37 2 202900003 202900003 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:202900003C>T ENST00000286201.1 + 1 694 c.633C>T c.(631-633)ccC>ccT p.P211P RP11-107N15.1_ENST00000608741.1_lincRNA NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled class receptor 7 31 TCTCATGCCCCCGTCAGCTCA 0.711000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant ENST00000286201.1 0 1 hg19 CCDS2351.1 TCGA-FB-AAQ1-01A-12D-A40W-08 FZD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256314.1 1 0 0 7 125 0 22 0 2.160986e-02 1 3 0 22 2 0 0 0 0 0 2 1 0.981019 7 124 0 21 2 -10.654640 1 1 0 0 1 0 1 1 1.946150 0 0.390000 1.750000 0.331324 0.250000 1.100000e-01 0.470000 0.240000 0.275058 0.250000 0 0.170000 0.360000 SPEG 10290 broad.mit.edu 37 2 220356970 220356970 + Missense_Mutation SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:220356970C>A ENST00000312358.7 + 40 9731 c.9599C>A c.(9598-9600)tCt>tAt p.S3200Y SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 100 Renal(207;0.0183) AAGGTTCTCTCTGTACATCCC 0.612000 0 SO:0001583 missense ENST00000312358.7 0 1 hg19 CCDS42824.1 . . . . . . . . . . C 16.78 3.218399 0.58560 . . ENSG00000072195 ENST00000312358;ENST00000265327 T 0.66099 -0.19 4.29 4.29 0.51040 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.31450 U 0.007628 T 0.70675 0.3251 L 0.48362 1.52 0.80722 D 1 D 0.71674 0.998 D 0.66196 0.942 T 0.73235 -0.4047 10 0.62326 D 0.03 . 13.2469 0.60028 0.0:0.8395:0.1605:0.0 . 3200 Q15772 SPEG_HUMAN Y 3200 ENSP00000311684:S3200Y ENSP00000265327:S3200Y S + 2 0 SPEG 220065214 0.998000 0.40836 1.000000 0.80357 0.935000 0.57460 3.968000 0.56809 2.229000 0.72834 0.467000 0.42956 TCT TCGA-FB-AAQ1-01A-12D-A40W-08 SPEG-004 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000130252.2 0 0 0 5 288 0 48 0 4.809895e-04 0 2 0 48 2 0 0 0 0 0 2 1 0.934616 4 283 0 48 2 -4.040233 1 0 0 0 1 0 1 1 1.946150 0 0.390000 1.750000 0.331324 0.080000 2.000000e-02 0.170000 0.080000 0.094499 0.080000 0 0.050000 0.130000 UBE2F 140739 broad.mit.edu 37 2 238940869 238940869 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:238940869G>A ENST00000272930.4 + 8 612 c.418G>A c.(418-420)Gtt>Att p.V140I UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) TCAGGATGTCGTTTGGGGATT 0.338000 0 SO:0001583 missense ENST00000272930.4 1 1 hg19 CCDS2523.1 . . . . . . . . . . G 10.11 1.260616 0.23051 . . ENSG00000184182 ENST00000272930;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137 T;T;T;T;T;T;T;T 0.70631 -0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5 4.87 4.87 0.63330 Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2); 0.063698 0.64402 N 0.000007 T 0.50514 0.1620 N 0.05554 -0.025 0.44719 D 0.997713 B;B 0.17852 0.024;0.0 B;B 0.16289 0.015;0.004 T 0.47156 -0.9139 10 0.30854 T 0.27 -20.783 13.8838 0.63696 0.0:0.0:1.0:0.0 . 108;140 Q969M7-3;Q969M7 .;UBE2F_HUMAN I 140;108;140;108;116;118;140;130 ENSP00000272930:V140I;ENSP00000390813:V108I;ENSP00000387299:V140I;ENSP00000399183:V108I;ENSP00000386680:V116I;ENSP00000387060:V118I;ENSP00000406113:V140I;ENSP00000414619:V130I ENSP00000272930:V140I V + 1 0 UBE2F 238605608 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 7.227000 0.78070 2.419000 0.82065 0.655000 0.94253 GTT TCGA-FB-AAQ1-01A-12D-A40W-08 UBE2F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257171.2 1 0 0 9 158 0 45 1 9.863845e-01 23 112 0 45 2 0 0 0 0 0 2 1 0.994465 9 157 0 44 2 -4.826430 1 1 121406 2 32 1 0 1 1 1.946150 0 0.390000 1.750000 0.331324 0.250000 1.200000e-01 0.440000 0.250000 0.273491 0.250000 0 0.180000 0.350000 THADA 63892 broad.mit.edu 37 2 43787408 43787408 + Silent SNP G G A rs78531159 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:43787408G>A ENST00000405006.4 - 16 2779 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L THADA_ENST00000405975.2_Silent_p.L810L|THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000330266.7_Silent_p.L520L 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) AACTTCATCAGAAGATCAAAT 0.338000 0 SO:0001819 synonymous_variant ENST00000405006.4 1 1 hg19 CCDS46268.1 TCGA-FB-AAQ1-01A-12D-A40W-08 THADA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326070.3 1 0 1 24 67 0 19 0 6.675736e-01 0 8 0 19 2 0 0 0 0 0 2 1 1.000000 24 66 0 19 2 -18.967400 1 1 0 0 1 0 1 1 1.733625 1 0.390000 1.750000 0.244067 0.900000 6.700000e-01 1.000000 1.000000 0.895144 0.900000 1 0.790000 0.980000 BCHE 590 broad.mit.edu 37 3 165547794 165547794 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:165547794G>T ENST00000264381.3 - 2 1194 c.1028C>A c.(1027-1029)aCc>aAc p.T343N BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 55 Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116) CAAAATCTGGGTTTTTTTAAA 0.383000 0 GRCh37 CI951904 BCHE I SO:0001583 missense ENST00000264381.3 1 1 hg19 CCDS3198.1 . . . . . . . . . . G 12.36 1.913768 0.33815 . . ENSG00000114200 ENST00000264381 D 0.95342 -3.68 5.62 5.62 0.85841 Carboxylesterase, type B (1); 0.151216 0.64402 D 0.000015 D 0.97315 0.9122 M 0.86028 2.79 0.80722 D 1 P 0.48834 0.916 P 0.61477 0.889 D 0.97737 1.0206 10 0.87932 D 0 . 18.6354 0.91376 0.0:0.0:1.0:0.0 . 343 P06276 CHLE_HUMAN N 343 ENSP00000264381:T343N ENSP00000264381:T343N T - 2 0 BCHE 167030488 1.000000 0.71417 0.999000 0.59377 0.272000 0.26649 3.334000 0.52097 2.652000 0.90054 0.655000 0.94253 ACC TCGA-FB-AAQ1-01A-12D-A40W-08 BCHE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350254.1 1 0 0 18 174 0 43 0 1.127062e-01 0 6 0 43 2 0 0 0 0 0 2 1 0.999986 18 174 0 43 2 -8.236143 1 1 0 0 1 1 2 3 2.125667 0 0.390000 1.750000 0.394721 0.490000 3.000000e-01 1.000000 0.480000 0.516470 0.490000 0 0.390000 0.620000 DCLK3 85443 broad.mit.edu 37 3 36759634 36759634 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:36759634G>A ENST00000416516.2 - 4 2110 c.1620C>T c.(1618-1620)ggC>ggT p.G540G DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 p.G540G(1) 48 AGAGGATCACGCCAGCAGCCC 0.547000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000416516.2 1 1 hg19 CCDS43064.1 TCGA-FB-AAQ1-01A-12D-A40W-08 DCLK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341727.1 1 0 1 132 591 0 132 0 0 0 1 0 132 2 0 0 0 0 0 2 1 1.000000 129 579 1 129 19 -20.000000 1 1 121190 2 36 1 0 1 1 2.004812 0 0.390000 1.750000 0.358739 0.880000 7.500000e-01 1.000000 1.000000 0.890505 0.880000 1 0.810000 0.960000 AP1AR 55435 broad.mit.edu 37 4 113181980 113181980 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:113181980G>A ENST00000274000.5 + 5 599 c.244G>A c.(244-246)Gaa>Aaa p.E82K AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K NM_018569.4 NP_061039.3 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated regulatory protein 9 TTCCATTGCCGAAAAACAAAA 0.299000 0 SO:0001583 missense ENST00000274000.5 0 1 hg19 CCDS3696.1 . . . . . . . . . . G 20.4 3.991977 0.74703 0.0 1.16E-4 ENSG00000138660 ENST00000274000;ENST00000309703 T;T 0.52526 0.71;0.66 5.51 5.51 0.81932 . 0.052746 0.85682 D 0.000000 T 0.44685 0.1305 L 0.50333 1.59 0.45607 D 0.998545 P;P;P 0.47034 0.889;0.889;0.889 B;B;B 0.36922 0.236;0.236;0.236 T 0.52764 -0.8532 10 0.66056 D 0.02 -10.341 19.3993 0.94621 0.0:0.0:1.0:0.0 . 82;82;82 B2RCV7;Q63HQ0-2;Q63HQ0 .;.;AP1AR_HUMAN K 82 ENSP00000274000:E82K;ENSP00000309023:E82K ENSP00000274000:E82K E + 1 0 AP1AR 113401429 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 6.042000 0.70996 2.579000 0.87056 0.585000 0.79938 GAA TCGA-FB-AAQ1-01A-12D-A40W-08 AP1AR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256323.2 0 0 0 4 146 0 37 0 1.688819e-01 0 22 0 37 2 0 0 0 0 0 2 1 0.891422 5 145 0 37 2 -3.049653 1 1 121350 14 36 1 1 2 3 2.141371 0 0.390000 1.750000 0.395890 0.150000 4.000000e-02 1.000000 0.140000 0.200183 0.150000 0 0.090000 0.250000 STOX2 56977 broad.mit.edu 37 4 184930914 184930914 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:184930914G>A ENST00000308497.4 + 3 2358 c.923G>A c.(922-924)cGg>cAg p.R308Q STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) ACGATCCCTCGGGAAGTAGAG 0.502000 0 SO:0001583 missense ENST00000308497.4 1 1 hg19 CCDS47167.1 . . . . . . . . . . G 19.58 3.854494 0.71719 . . ENSG00000173320 ENST00000308497;ENST00000438269 T;D 0.85629 -1.07;-2.01 6.08 6.08 0.98989 . 0.000000 0.85682 D 0.000000 D 0.92299 0.7557 M 0.75615 2.305 0.80722 D 1 D 0.71674 0.998 D 0.66602 0.945 D 0.91940 0.5562 10 0.72032 D 0.01 -18.9454 20.6634 0.99662 0.0:0.0:1.0:0.0 . 308 Q9P2F5 STOX2_HUMAN Q 308 ENSP00000311257:R308Q;ENSP00000390127:R308Q ENSP00000311257:R308Q R + 2 0 STOX2 185167908 1.000000 0.71417 0.986000 0.45419 0.053000 0.15095 9.869000 0.99810 2.894000 0.99253 0.655000 0.94253 CGG TCGA-FB-AAQ1-01A-12D-A40W-08 STOX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361433.3 1 0 1 24 84 0 16 0 5.323505e-02 0 2 0 16 2 0 0 0 0 0 2 1 1.000000 25 79 0 16 2 -3.913069 1 1 120888 1 23 1 1 2 3 2.141371 0 0.390000 1.750000 0.395890 0.990000 7.800000e-01 1.000000 1.000000 0.978107 0.990000 1 0.950000 1.000000 BEND4 389206 broad.mit.edu 37 4 42127607 42127607 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:42127607G>A ENST00000502486.1 - 4 1718 c.1139C>T c.(1138-1140)cCg>cTg p.P380L BEND4_ENST00000504360.1_Missense_Mutation_p.P376L NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 26 TACCTCTGTCGGCTGGTCAGC 0.458000 0 SO:0001583 missense ENST00000502486.1 1 1 hg19 CCDS47048.1 . . . . . . . . . . G 5.183 0.219366 0.09863 5.17E-4 0.0 ENSG00000188848 ENST00000411720;ENST00000502486;ENST00000504360 . . . 5.67 5.67 0.87782 . 0.061993 0.64402 D 0.000003 T 0.28962 0.0719 N 0.08118 0 0.80722 D 1 P;B;P 0.39862 0.692;0.233;0.692 B;B;B 0.28465 0.09;0.024;0.09 T 0.24799 -1.0150 9 0.09590 T 0.72 -9.3894 19.773 0.96379 0.0:0.0:1.0:0.0 . 302;380;380 Q6ZU67-3;Q6ZU67;Q6ZU67-2 .;BEND4_HUMAN;. L 251;380;376 . ENSP00000412495:P251L P - 2 0 BEND4 41822364 1.000000 0.71417 0.961000 0.40146 0.018000 0.09664 7.109000 0.77062 2.677000 0.91161 0.655000 0.94253 CCG TCGA-FB-AAQ1-01A-12D-A40W-08 BEND4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360975.2 1 0 1 52 139 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 1.000000 51 134 0 33 2 -5.080024 1 1 120870 8 40 1 0 1 1 1.734875 1 0.390000 1.750000 0.242236 0.940000 7.900000e-01 1.000000 0.990000 0.936901 0.940000 1 0.870000 0.990000 TIGD2 166815 broad.mit.edu 37 4 90034245 90034245 + Silent SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:90034245C>A ENST00000317005.2 + 1 278 c.120C>A c.(118-120)tcC>tcA p.S40S RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 14 Hepatocellular(203;0.114) TTGGTGAATCCACAGTTCGTG 0.363000 0 SO:0001819 synonymous_variant ENST00000317005.2 1 1 hg19 CCDS3633.1 TCGA-FB-AAQ1-01A-12D-A40W-08 TIGD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253545.2 1 0 1 44 291 0 74 0 1.364690e-01 0 5 0 74 2 0 0 0 0 0 2 1 1.000000 43 286 0 74 2 -2.620085 1 1 0 0 1 0 1 1 1.734875 1 0.390000 1.750000 0.242236 0.530000 4.000000e-01 0.690000 0.540000 0.546113 0.530000 0 0.460000 0.620000 SPINK5 11005 broad.mit.edu 37 5 147510862 147510862 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:147510862T>C ENST00000256084.7 + 31 3047 c.3005T>C c.(3004-3006)aTa>aCa p.I1002T SPINK5_ENST00000359874.3_Missense_Mutation_p.I1032T NM_006846.3 NP_006837.2 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCCAGGATAGGTTATCTT 0.428000 0 SO:0001583 missense ENST00000256084.7 1 1 hg19 CCDS43382.1 . . . . . . . . . . T 11.79 1.742273 0.30865 . . ENSG00000133710 ENST00000359874;ENST00000256084 T;T 0.74421 -0.84;-0.84 4.69 4.69 0.59074 Proteinase inhibitor I1, Kazal (2); 0.845660 0.10791 N 0.633739 T 0.61223 0.2330 N 0.16478 0.41 0.28781 N 0.899811 P;B 0.35139 0.486;0.254 B;B 0.39465 0.199;0.3 T 0.51764 -0.8664 10 0.14252 T 0.57 -0.0909 11.1055 0.48201 0.0:0.0:0.0:1.0 . 1032;1002 Q9NQ38-3;Q9NQ38 .;ISK5_HUMAN T 1032;1002 ENSP00000352936:I1032T;ENSP00000256084:I1002T ENSP00000256084:I1002T I + 2 0 SPINK5 147491055 1.000000 0.71417 0.907000 0.35723 0.764000 0.43329 2.219000 0.42899 2.034000 0.60081 0.533000 0.62120 ATA TCGA-FB-AAQ1-01A-12D-A40W-08 SPINK5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000259215.2 1 0 1 145 667 0 161 1 4.968879e-01 8 1 0 161 2 0 0 0 0 0 2 1 1.000000 145 660 0 161 2 -20.000000 1 1 0 0 1 1 2 3 2.144092 0 0.390000 1.750000 0.397054 0.920000 7.900000e-01 1.000000 1.000000 0.926478 0.920000 1 0.850000 1.000000 NIPBL 25836 broad.mit.edu 37 5 36985035 36985035 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:36985035A>G ENST00000282516.8 + 10 2252 c.1753A>G c.(1753-1755)Att>Gtt p.I585V NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCAGGAAGATATTGTTGGAAG 0.373000 0 SO:0001583 missense ENST00000282516.8 1 1 hg19 CCDS3920.1 . . . . . . . . . . A 0.004 -2.275777 0.00254 . . ENSG00000164190 ENST00000282516;ENST00000448238 D;D 0.92752 -3.1;-3.1 5.98 -0.428 0.12306 . 0.570820 0.19739 N 0.107161 T 0.80813 0.4695 N 0.14661 0.345 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.66658 -0.5868 10 0.27785 T 0.31 . 7.573 0.27920 0.6467:0.1081:0.2451:0.0 . 585;585 Q6KC79;Q6KC79-2 NIPBL_HUMAN;. V 585 ENSP00000282516:I585V;ENSP00000406266:I585V ENSP00000282516:I585V I + 1 0 NIPBL 37020792 0.008000 0.16893 0.990000 0.47175 0.789000 0.44602 -0.310000 0.08135 -0.064000 0.13043 -1.140000 0.01884 ATT TCGA-FB-AAQ1-01A-12D-A40W-08 NIPBL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207582.1 1 0 0 27 354 0 72 0 1.570288e-02 0 3 0 72 2 0 0 0 0 0 2 1 1.000000 27 349 0 72 2 -20.000000 1 1 0 0 1 1 2 3 2.144092 0 0.390000 1.750000 0.397054 0.370000 2.400000e-01 1.000000 0.370000 0.407007 0.370000 0 0.300000 0.460000 IL31RA 133396 broad.mit.edu 37 5 55203287 55203287 + Splice_Site SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:55203287C>T ENST00000447346.2 + 10 1418 c.1353C>T c.(1351-1353)ggC>ggT p.G451G IL31RA_ENST00000396834.1_Splice_Site_p.G432G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCAAAGAAGGCGGTATGAATG 0.463000 0 SO:0001630 splice_region_variant ENST00000447346.2 1 0 hg19 CCDS3970.2 TCGA-FB-AAQ1-01A-12D-A40W-08 IL31RA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000214148.1 1 0 1 42 233 0 65 0 6.578289e-02 0 3 0 65 2 0 0 0 0 0 2 1 1.000000 36 210 0 62 2 -3.086833 1 1 121410 4 37 1 1 2 3 2.144092 0 0.390000 1.750000 0.397054 0.790000 5.900000e-01 1.000000 1.000000 0.808078 0.790000 0 0.680000 0.940000 DEPDC1B 55789 broad.mit.edu 37 5 59941390 59941390 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:59941390G>A ENST00000265036.5 - 4 574 c.507C>T c.(505-507)tgC>tgT p.C169C DEPDC1B_ENST00000453022.2_Silent_p.C169C|DEPDC1B_ENST00000545085.1_Silent_p.C142C NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) GGACAAGACGGCAAGCTGGCA 0.438000 0 SO:0001819 synonymous_variant ENST00000265036.5 0 1 hg19 CCDS3977.1 TCGA-FB-AAQ1-01A-12D-A40W-08 DEPDC1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214207.1 0 0 0 5 287 0 50 0 6.149756e-02 0 19 0 50 2 0 0 0 0 0 2 1 0.937504 5 286 0 48 2 -2.897948 1 1 0 0 1 1 2 3 2.144092 0 0.390000 1.750000 0.397054 0.090000 3.000000e-02 1.000000 0.090000 0.147351 0.090000 0 0.050000 0.160000 SLC22A16 85413 broad.mit.edu 37 6 110763856 110763856 + Silent SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:110763856A>G ENST00000368919.3 - 4 840 c.774T>C c.(772-774)gcT>gcC p.A258A SLC22A16_ENST00000330550.4_Silent_p.A224A|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000456137.2_3'UTR NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) Doxorubicin(DB00997)|L-Carnitine(DB00583) ATCCTGTCAAAGCCACCAGCA 0.507000 0 SO:0001819 synonymous_variant ENST00000368919.3 1 1 hg19 CCDS5084.1 TCGA-FB-AAQ1-01A-12D-A40W-08 SLC22A16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043428.1 1 0 1 63 201 0 35 0 1.468706e-01 0 3 0 35 2 0 0 0 0 0 2 1 1.000000 63 199 0 35 2 -20.000000 1 1 0 0 1 0 1 1 1.730651 1 0.390000 1.750000 0.244067 0.920000 7.500000e-01 1.000000 1.000000 0.917137 0.920000 1 0.840000 0.990000 OR10C1 442194 broad.mit.edu 37 6 29408444 29408444 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:29408444G>A ENST00000444197.2 + 1 1362 c.652G>A c.(652-654)Ggg>Agg p.G218R OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 27 GGGCTCCTACGGGCGTATCCT 0.582000 0 SO:0001583 missense ENST00000444197.2 1 1 hg19 CCDS34364.1 . . . . . . . . . . G 8.744 0.919636 0.17982 . . ENSG00000206474 ENST00000444197 T 0.00115 8.71 3.49 2.61 0.31194 GPCR, rhodopsin-like superfamily (1); 0.205323 0.24373 N 0.039086 T 0.00178 0.0005 M 0.81614 2.55 0.09310 N 1 D 0.71674 0.998 D 0.67548 0.952 T 0.27571 -1.0070 10 0.41790 T 0.15 . 7.9844 0.30202 0.0:0.176:0.6423:0.1818 . 218 Q96KK4 O10C1_HUMAN R 218 ENSP00000419119:G218R ENSP00000419119:G218R G + 1 0 OR10C1 29516423 0.000000 0.05858 0.117000 0.21633 0.024000 0.10985 -0.907000 0.04067 0.667000 0.31107 -0.234000 0.12200 GGG TCGA-FB-AAQ1-01A-12D-A40W-08 OR10C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076415.2 1 0 1 156 608 0 134 0 0 0 0 134 2 0 0 0 0 0 2 1 1.000000 155 600 0 132 2 -2.585951 1 1 0 0 1 0 1 1 1.938908 0 0.390000 1.750000 0.329891 0.940000 8.100000e-01 1.000000 1.000000 0.943820 0.940000 1 0.880000 1.000000 VARS 7407 broad.mit.edu 37 6 31748522 31748522 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:31748522G>A ENST00000375663.3 - 24 3197 c.2757C>T c.(2755-2757)acC>acT p.T919T VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 30 L-Valine(DB00161) GGAGAGCATCGGTGCCACATT 0.612000 0 SO:0001819 synonymous_variant ENST00000375663.3 1 1 hg19 CCDS34412.1 . . . . . . . . . . G 8.703 0.910187 0.17833 . . ENSG00000204394 ENST00000428445 . . . 5.09 -10.2 0.00374 . . . . . . . . . . . 0.54753 D 0.999988 . . . . . . . . . . . . . -21.4231 9.2143 0.37337 0.7013:0.0811:0.1308:0.0867 . . . . X 237 . . R - 1 2 VARS 31856501 0.000000 0.05858 0.237000 0.24090 0.967000 0.64934 -3.317000 0.00514 -2.299000 0.00659 -0.742000 0.03525 CGA TCGA-FB-AAQ1-01A-12D-A40W-08 VARS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076619.2 1 0 1 64 279 0 52 1 1 56 114 0 52 2 0 0 0 0 0 2 1 1.000000 64 272 0 52 2 -2.986860 1 1 121412 2 33 1 0 1 1 1.943868 0 0.390000 1.750000 0.345318 0.880000 7.000000e-01 1.000000 1.000000 0.887020 0.880000 1 0.790000 0.990000 IP6K3 117283 broad.mit.edu 37 6 33690903 33690903 + Nonsense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:33690903G>T ENST00000293756.4 - 6 1153 c.827C>A c.(826-828)tCa>tAa p.S276* IP6K3_ENST00000451316.1_Nonsense_Mutation_p.S276* NM_054111.4 NP_473452.2 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 1 CCCCTCCACTGAGAGTTTTCT 0.453000 0 SO:0001587 stop_gained ENST00000293756.4 0 1 hg19 CCDS34435.1 . . . . . . . . . . G 40 8.349889 0.98772 . . ENSG00000161896 ENST00000451316;ENST00000293756 . . . 5.74 4.87 0.63330 . 0.121990 0.37715 N 0.001964 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -6.2462 11.4635 0.50223 0.0:0.136:0.7227:0.1413 . . . . X 276 . ENSP00000293756:S276X S - 2 0 IP6K3 33798881 1.000000 0.71417 0.613000 0.29037 0.989000 0.77384 6.643000 0.74334 1.398000 0.46701 0.655000 0.94253 TCA TCGA-FB-AAQ1-01A-12D-A40W-08 IP6K3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040203.1 1 0 1 22 219 0 56 0 0 0 0 56 2 0 0 0 0 0 2 1 0.999999 22 214 0 55 2 -3.318795 1 1 0 0 1 0 1 1 1.954277 0 0.390000 1.750000 0.331324 0.420000 2.700000e-01 0.610000 0.430000 0.439100 0.420000 0 0.340000 0.520000 RELN 5649 broad.mit.edu 37 7 103180720 103180720 + Missense_Mutation SNP C C T rs116394157 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:103180720C>T ENST00000428762.1 - 44 7013 c.6854G>A c.(6853-6855)cGt>cAt p.R2285H RELN_ENST00000343529.5_Missense_Mutation_p.R2285H|RELN_ENST00000424685.2_Missense_Mutation_p.R2285H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 227 AGAACCAGAACGGGCTTTCAA 0.527000 NSCLC(146;835 1944 15585 22231 52158) 0 SO:0001583 missense ENST00000428762.1 1 1 hg19 CCDS47680.1 . . . . . . . . . . C 27.0 4.793262 0.90453 . . ENSG00000189056 ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171 T;T;T 0.25085 2.01;2.01;1.82 5.44 5.44 0.79542 . 0.000000 0.85682 D 0.000000 T 0.52338 0.1728 M 0.68593 2.085 0.80722 D 1 D;P 0.89917 1.0;0.857 D;B 0.83275 0.996;0.173 T 0.50355 -0.8838 10 0.59425 D 0.04 . 19.6264 0.95679 0.0:1.0:0.0:0.0 . 2285;2285 P78509-2;P78509 .;RELN_HUMAN H 2285 ENSP00000392423:R2285H;ENSP00000345694:R2285H;ENSP00000388446:R2285H ENSP00000345694:R2285H R - 2 0 RELN 102967956 1.000000 0.71417 0.991000 0.47740 0.992000 0.81027 4.462000 0.60121 2.717000 0.92951 0.655000 0.94253 CGT TCGA-FB-AAQ1-01A-12D-A40W-08 RELN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000348148.1 1 0 1 94 346 0 73 0 2.047787e-01 0 4 0 73 2 0 0 0 0 0 2 1 1.000000 90 342 0 70 2 -20.000000 1 1 121412 1 40 1 1 2 3 2.346895 1 0.390000 1.750000 0.442209 0.990000 9.900000e-01 1.000000 1.000000 0.999182 0.990000 1 0.990000 1.000000 RBM28 55131 broad.mit.edu 37 7 127975996 127975996 + Silent SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:127975996A>G ENST00000223073.2 - 7 828 c.714T>C c.(712-714)gaT>gaC p.D238D RBM28_ENST00000415472.2_Silent_p.D97D NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 21 catcatcatcatcgtcatcat 0.398000 0 SO:0001819 synonymous_variant ENST00000223073.2 1 1 hg19 CCDS5801.1 TCGA-FB-AAQ1-01A-12D-A40W-08 RBM28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349442.2 1 0 1 69 241 0 57 1 9.306191e-01 8 10 0 57 2 0 0 0 0 0 2 1 1.000000 65 240 0 57 2 -3.037456 1 1 0 0 1 1 2 3 2.346895 1 0.390000 1.750000 0.442209 0.990000 9.900000e-01 1.000000 1.000000 0.999244 0.990000 1 0.990000 1.000000 NRF1 4899 broad.mit.edu 37 7 129349051 129349051 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:129349051G>A ENST00000393232.1 + 6 860 c.743G>A c.(742-744)cGc>cAc p.R248H NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 p.R248L(1) 24 AGTGATGTCCGCACAGAAGAG 0.493000 1 Substitution - Missense(1) SO:0001583 missense ENST00000393232.1 0 1 hg19 CCDS5813.2 . . . . . . . . . . G 35 5.582880 0.96578 . . ENSG00000106459 ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231 D;D;D;D;D;D 0.89810 -2.57;-2.57;-2.57;-2.57;-2.57;-2.57 5.85 5.85 0.93711 Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1); 0.000000 0.85682 D 0.000000 D 0.94804 0.8322 M 0.80616 2.505 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.94125 0.7383 9 . . . -9.5325 19.1648 0.93551 0.0:0.0:1.0:0.0 . 248;248 Q96AN2;Q16656 .;NRF1_HUMAN H 248;248;87;248;248;248;248 ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H . R + 2 0 NRF1 129136287 1.000000 0.71417 1.000000 0.80357 0.893000 0.52053 9.499000 0.97975 2.772000 0.95346 0.655000 0.94253 CGC TCGA-FB-AAQ1-01A-12D-A40W-08 NRF1-203 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000289813.1 0 0 0 9 750 0 105 0 1.968350e-02 0 16 0 105 2 0 0 0 0 0 2 1 0.993619 8 734 0 104 2 -1.827695 0 1 0 0 1 1 2 3 2.346895 1 0.390000 1.750000 0.442209 0.070000 2.000000e-02 1.000000 0.070000 0.297890 0.070000 0 0.040000 1.000000 EBF2 64641 broad.mit.edu 37 8 25890660 25890660 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:25890660G>A ENST00000520164.1 - 6 1029 c.492C>T c.(490-492)tgC>tgT p.C164C EBF2_ENST00000408929.3_Silent_p.C16C NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) TTTTCTTTTCGCAGCATCGAC 0.393000 Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918) 0 SO:0001819 synonymous_variant ENST00000520164.1 1 1 hg19 CCDS43726.1 TCGA-FB-AAQ1-01A-12D-A40W-08 EBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375886.2 1 0 0 77 317 0 79 0 0 0 0 79 2 0 0 0 0 0 2 1 1.000000 75 311 0 79 2 -20.000000 1 1 0 0 1 1 2 3 2.142374 0 0.390000 1.750000 0.397054 0.990000 8.100000e-01 1.000000 1.000000 0.968836 0.990000 1 0.910000 1.000000 INTS9 55756 broad.mit.edu 37 8 28669965 28669965 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:28669965G>A ENST00000521022.1 - 8 704 c.623C>T c.(622-624)gCg>gTg p.A208V INTS9_ENST00000397363.4_Missense_Mutation_p.A102V|INTS9_ENST00000416984.2_Missense_Mutation_p.A187V|INTS9_ENST00000521777.1_Missense_Mutation_p.A184V NM_018250.3 NP_060720.2 Q9NV88 INT9_HUMAN integrator complex subunit 9 19 Ovarian(32;0.0439) CACCTGGACCGCACCAAAAAG 0.463000 0 SO:0001583 missense ENST00000521022.1 0 1 hg19 CCDS34873.1 . . . . . . . . . . G 20.4 3.978086 0.74360 . . ENSG00000104299 ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363 T;T;T;T 0.46063 0.9;0.88;0.9;0.91 6.08 6.08 0.98989 . 0.000000 0.85682 D 0.000000 T 0.42381 0.1200 L 0.52266 1.64 0.80722 D 1 B;B;B 0.22541 0.071;0.005;0.003 B;B;B 0.14578 0.011;0.005;0.006 T 0.11767 -1.0574 10 0.35671 T 0.21 -19.2771 20.2738 0.98482 0.0:0.0:1.0:0.0 . 187;208;208 B7Z6M5;G3XAN1;Q9NV88 .;.;INT9_HUMAN V 208;187;52;184;102 ENSP00000429065:A208V;ENSP00000398208:A187V;ENSP00000430943:A184V;ENSP00000380520:A102V ENSP00000380520:A102V A - 2 0 INTS9 28725884 1.000000 0.71417 0.973000 0.42090 0.795000 0.44927 7.883000 0.87264 2.894000 0.99253 0.655000 0.94253 GCG TCGA-FB-AAQ1-01A-12D-A40W-08 INTS9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376846.1 0 0 0 5 219 0 27 0 1.476449e-01 0 25 0 27 2 0 0 0 0 0 2 1 0.937507 5 218 0 27 2 -3.192940 1 1 121408 4 34 1 1 2 3 2.142374 0 0.390000 1.750000 0.397054 0.120000 4.000000e-02 1.000000 0.120000 0.177349 0.120000 0 0.070000 0.200000 WRN 7486 broad.mit.edu 37 8 31004955 31004955 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:31004955G>A ENST00000298139.5 + 30 3784 c.3535G>A c.(3535-3537)Gca>Aca p.A1179T NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 60 Breast(100;0.195) AGCTATTCTGGCAACAAACAA 0.338000 Mis, N, F, S osteosarcoma, meningioma, others Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome Ovarian(18;161 598 2706 14834 27543) yes Rec Werner Syndrome 8 8p12-p11.2 7486 Werner syndrome (RECQL2) L, E, M, O 0 SO:0001583 missense Familial Cancer Database WS, Adult Progeria ENST00000298139.5 0 1 hg19 CCDS6082.1 . . . . . . . . . . G 26.7 4.767242 0.90020 . . ENSG00000165392 ENST00000298139 T 0.51574 0.7 4.97 4.97 0.65823 HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3); 0.000000 0.85682 D 0.000000 T 0.70666 0.3250 M 0.77820 2.39 0.50039 D 0.999849 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 T 0.74697 -0.3578 10 0.66056 D 0.02 -18.4415 18.1847 0.89789 0.0:0.0:1.0:0.0 . 589;1179 Q59F09;Q14191 .;WRN_HUMAN T 1179 ENSP00000298139:A1179T ENSP00000298139:A1179T A + 1 0 WRN 31124497 1.000000 0.71417 1.000000 0.80357 0.920000 0.55202 7.519000 0.81809 2.459000 0.83118 0.655000 0.94253 GCA TCGA-FB-AAQ1-01A-12D-A40W-08 WRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376248.1 0 0 0 5 356 1 75 0 5.049849e-03 0 19 1 75 3 0 0 0 0 0 2 0 0.011643 6 353 1 75 16 -2.588732 1 1 0 0 1 1 2 3 2.142374 0 0.390000 1.750000 0.397054 0.070000 2.000000e-02 1.000000 0.070000 0.128349 0.070000 0 0.040000 0.130000 KCNB2 9312 broad.mit.edu 37 8 73848256 73848256 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:73848256C>T ENST00000523207.1 + 3 1254 c.666C>T c.(664-666)gaC>gaT p.D222D NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 85 Breast(64;0.137) Epithelial(68;0.105) Dalfampridine(DB06637) AGGAAACGGACGAATTTGGAC 0.473000 0 SO:0001819 synonymous_variant ENST00000523207.1 1 1 hg19 CCDS6209.1 TCGA-FB-AAQ1-01A-12D-A40W-08 KCNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378998.1 1 0 1 97 355 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 1.000000 94 349 0 85 2 -20.000000 1 1 0 0 1 1 2 3 2.142374 0 0.390000 1.750000 0.397054 0.990000 9.200000e-01 1.000000 1.000000 0.994715 0.990000 1 0.990000 1.000000 TOR2A 27433 broad.mit.edu 37 9 130496760 130496760 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr9:130496760G>A ENST00000373284.5 - 2 281 c.235C>T c.(235-237)Cgg>Tgg p.R79W TOR2A_ENST00000373281.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron NM_001085347.2 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A 3 GCTGGGTCCCGCACAAAGGCC 0.662000 OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000373284.5 0 1 hg19 CCDS43879.1 . . . . . . . . . . G 13.22 2.172678 0.38413 . . ENSG00000160404 ENST00000336067;ENST00000373284;ENST00000373281 T;T;T 0.44482 0.92;0.92;0.92 5.23 -2.19 0.07015 . 0.571731 0.18845 N 0.129561 T 0.33614 0.0869 L 0.29908 0.895 0.09310 N 0.999998 B;D;D 0.71674 0.001;0.998;0.983 B;P;P 0.54174 0.0;0.744;0.545 T 0.20739 -1.0266 10 0.62326 D 0.03 -4.2007 3.9649 0.09426 0.0755:0.3385:0.3078:0.2782 . 79;79;79 Q5JU69-2;Q8N2E6;Q5JU69 .;TOR2X_HUMAN;TOR2A_HUMAN W 79 ENSP00000338317:R79W;ENSP00000362381:R79W;ENSP00000362378:R79W ENSP00000338317:R79W R - 1 2 TOR2A 129536581 0.000000 0.05858 0.002000 0.10522 0.020000 0.10135 -0.227000 0.09126 -0.084000 0.12595 -0.448000 0.05591 CGG TCGA-FB-AAQ1-01A-12D-A40W-08 TOR2A-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054205.1 0 0 0 4 106 0 18 0 1.499329e-01 0 15 0 18 2 0 0 0 0 0 2 1 0.882815 4 102 0 17 2 -6.690661 1 1 121098 7 37 1 0 1 1 1.749242 1 0.390000 1.750000 0.249508 0.160000 5.000000e-02 0.350000 0.150000 0.181039 0.160000 0 0.090000 0.250000 ODF2 4957 broad.mit.edu 37 9 131256879 131256879 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr9:131256879G>T ENST00000434106.3 + 17 2206 c.1843G>T c.(1843-1845)Gac>Tac p.D615Y ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D591Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D615Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 37 TGAGTGCCAAGACCAACTGCA 0.582000 0 SO:0001583 missense ENST00000434106.3 1 1 hg19 CCDS56588.1 . . . . . . . . . . G 17.15 3.315892 0.60524 . . ENSG00000136811 ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791 T;D;T;T;T;D;T;T 0.84070 1.27;-1.8;-0.05;-0.05;-0.05;-1.8;1.29;1.3 5.4 3.55 0.40652 . 0.293958 0.38326 N 0.001723 D 0.84361 0.5455 L 0.38175 1.15 0.80722 D 1 D;D;D;D;D;D;D 0.71674 0.998;0.997;0.998;0.998;0.998;0.998;0.998 P;D;P;D;P;D;D 0.68192 0.904;0.916;0.904;0.956;0.904;0.953;0.916 D 0.83375 0.0009 10 0.72032 D 0.01 -20.1786 8.5962 0.33716 0.0774:0.2919:0.6307:0.0 . 596;610;534;615;596;615;591 Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3 .;.;.;.;.;ODFP2_HUMAN;. Y 615;659;610;615;591;534;596;596 ENSP00000377166:D615Y;ENSP00000361901:D659Y;ENSP00000342581:D610Y;ENSP00000361882:D615Y;ENSP00000307781:D591Y;ENSP00000396687:D534Y;ENSP00000437579:D596Y;ENSP00000361877:D596Y ENSP00000307781:D591Y D + 1 0 ODF2 130296700 1.000000 0.71417 0.998000 0.56505 0.970000 0.65996 3.221000 0.51215 0.643000 0.30638 -0.305000 0.09177 GAC TCGA-FB-AAQ1-01A-12D-A40W-08 ODF2-011 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000054449.3 1 0 1 57 175 0 46 1 9.997177e-01 14 27 0 46 2 0 0 0 0 0 2 1 1.000000 56 173 0 46 2 -20.000000 1 1 0 0 1 0 1 1 1.749242 1 0.390000 1.750000 0.249508 0.950000 7.700000e-01 1.000000 1.000000 0.938029 0.950000 1 0.860000 1.000000