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 TRUB1 142940 broad.mit.edu 37 10 116698211 116698211 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:116698211T>C ENST00000298746.3 + 1 260 c.199T>C c.(199-201)Tcc>Ccc p.S67P TRUB1_ENST00000485065.1_3'UTR NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) CAAGCTGCTGTCCTTGAGCGG 0.662000 0 SO:0001583 missense ENST00000298746.3 0 1 hg19 CCDS7591.1 . . . . . . . . . . T 19.630000 3.863849 0.719490 . . ENSG00000165832 ENST00000298746 T 0.43688 0.94 6.170000 6.170000 0.997090 Pseudouridine synthase, catalytic domain (1); 0.053893 0.85682 D 0.000000 T 0.60843 0.2300 M 0.61703 1.905 0.547530 D 0.999980 D 0.71674 0.998 D 0.78314 0.991 T 0.58165 -0.7684 10 0.35671 T 0.21 -12.9692 14.345500 0.666580 0.0:0.0:0.0:1.0 . 67 Q8WWH5 TRUB1_HUMAN P 67 ENSP00000298746:S67P ENSP00000298746:S67P S + 1 0 TRUB1 116688201 1.000000 0.71417 1 0.803570 0.881000 0.508990 3.299000 0.51826 2.371000 0.807100 0.533000 0.621200 TCC TCGA-IB-AAUQ-01A-22D-A40W-08 TRUB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050504.1 1 0 0 8 28 0 8 1 5.086540e-01 3 4 0 8 2 0 0 0 0 0 2 1 0.991230 8 27 0 8 2 -17.783790 1 1 121066 1 33 1 0 1 1 1.806314 1 0.250000 1.930000 0.142857 0.860000 0.530000 1.000000 0.990000 0.844488 0.860000 1 7.100000e-01 9.700000e-01 EIF3A 8661 broad.mit.edu 37 10 120801997 120801997 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:120801997G>A ENST00000369144.3 - 19 3162 c.3035C>T c.(3034-3036)gCg>gTg p.A1012V EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3, subunit A 56 Lung NSC(174;0.094)|all_lung(145;0.123) GTCATCATCCGCATGACGCCA 0.572000 0 SO:0001583 missense ENST00000369144.3 0 1 hg19 CCDS7608.1 . . . . . . . . . . G 0.916000 -0.717526 0.031820 4.54E-4 0.0 ENSG00000107581 ENST00000369144;ENST00000541549 T;T 0.24151 1.87;1.87 5.910000 0.478000 0.167890 . 1.821580 0.04002 N 0.296629 T 0.23133 0.0559 L 0.48642 1.525 0.093100 N 1.000000 B;B 0.13145 0.007;0.0 B;B 0.10450 0.005;0.0 T 0.21484 -1.0244 10 0.30078 T 0.28 0.1809 5.816800 0.184970 0.2967:0.3625:0.3408:0.0 . 978;1012 F5H335;Q14152 .;EIF3A_HUMAN V 1012;978 ENSP00000358140:A1012V;ENSP00000438178:A978V ENSP00000358140:A1012V A - 2 0 EIF3A 120791987 0.000000 0.05858 1.000000e-03 0.086480 0.323000 0.283460 0.258000 0.18387 -0.167000 0.108710 -0.137000 0.144490 GCG TCGA-IB-AAUQ-01A-22D-A40W-08 EIF3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050634.1 0 0 0 8 735 0 184 0 5.751756e-01 0 168 0 184 2 0 0 0 0 0 2 1 0.988615 8 722 0 182 2 -1.742120 0 1 121412 11 46 1 0 1 1 1.806314 1 0.250000 1.930000 0.142857 0.070000 0.030000 0.140000 0.080000 0.083873 0.070000 0 5.000000e-02 1.100000e-01 ZNF438 220929 broad.mit.edu 37 10 31137813 31137813 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:31137813G>A ENST00000361310.3 - 6 1850 c.1521C>T c.(1519-1521)caC>caT p.H507H ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000452305.1_Silent_p.H497H Q7Z4V0 ZN438_HUMAN zinc finger protein 438 35 Prostate(175;0.0587) CGTGACATCTGTGCCAAGGCT 0.483000 0 SO:0001819 synonymous_variant ENST00000361310.3 0 1 hg19 CCDS7168.1 TCGA-IB-AAUQ-01A-22D-A40W-08 ZNF438-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000277006.1 0 0 0 9 792 0 228 0 4.373468e-02 1 25 0 228 2 0 0 0 0 0 2 1 0.993612 9 775 0 228 2 -2.841652 1 1 0 0 1 1 2 3 2.046313 0 0.250000 1.930000 0.257426 0.090000 0.040000 1.000000 0.090000 0.158142 0.090000 0 6.000000e-02 1.400000e-01 DRD2 1813 broad.mit.edu 37 11 113295218 113295218 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:113295218G>A ENST00000362072.3 - 2 500 c.156C>T c.(154-156)aaC>aaT p.N52N DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000542968.1_Silent_p.N52N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 p.N52N(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246) ACACCAGCACGTTGCCGAAGA 0.627000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000362072.3 1 1 hg19 CCDS8361.1 TCGA-IB-AAUQ-01A-22D-A40W-08 DRD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395834.1 1 0 1 32 286 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 1.000000 31 282 0 86 2 -12.109920 1 1 121412 28 46 1 0 1 1 2.016792 0 0.250000 1.930000 0.249061 0.800000 0.560000 1.000000 1.000000 0.809561 0.800000 0 6.700000e-01 9.400000e-01 FADS3 3995 broad.mit.edu 37 11 61645989 61645989 + Missense_Mutation SNP C C T rs144099007 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:61645989C>T ENST00000278829.2 - 5 894 c.742G>A c.(742-744)Gtc>Atc p.V248I FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000540820.1_Missense_Mutation_p.V248I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I NM_021727.3 NP_068373.1 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 15 CCCACCTCGACGGATGACTCC 0.647000 0 SO:0001583 missense ENST00000278829.2 1 1 hg19 CCDS8013.1 . . . . . . . . . . . 12.220000 1.872167 0.330690 0.0 1.16E-4 ENSG00000221968 ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223 T;T;T;T;T;T 0.64991 -0.13;-0.13;-0.13;-0.13;-0.13;-0.13 4.510000 0.501000 0.169250 Fatty acid desaturase, type 1 (1); . . . . T 0.52322 0.1727 L 0.47190 1.495 0.215790 N 0.999640 B;B 0.16166 0.004;0.016 B;B 0.23275 0.027;0.045 T 0.42865 -0.9426 9 0.36615 T 0.2 -10.6178 8.926500 0.356430 0.0:0.684:0.0:0.316 . 124;248 E9PKP8;Q9Y5Q0 .;FADS3_HUMAN I 124;248;248;220;124;124 ENSP00000431533:V124I;ENSP00000278829:V248I;ENSP00000439308:V248I;ENSP00000432206:V220I;ENSP00000436890:V124I;ENSP00000434551:V124I ENSP00000278829:V248I V - 1 0 FADS3 61402565 0.001000 0.12720 0 0.037020 0.112000 0.197040 0.149000 0.16243 -0.099000 0.122630 -1.036000 0.023920 GTC TCGA-IB-AAUQ-01A-22D-A40W-08 FADS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394836.1 1 0 1 62 392 0 101 1 9.885465e-01 18 28 0 101 2 0 0 0 0 0 2 1 1.000000 61 381 0 100 2 -20.000000 1 1 121408 4 40 1 0 0 0 2.000035 0 0.250000 1.930000 0.242424 0.990000 0.840000 1.000000 1.000000 0.982246 0.990000 1 9.500000e-01 1 MEN1 4221 broad.mit.edu 37 11 64572244 64572244 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:64572244G>A ENST00000337652.1 - 10 1913 c.1410C>T c.(1408-1410)gcC>gcT p.A470A MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000315422.4_Silent_p.A465A|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Silent_p.A470A|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000377321.1_Silent_p.A430A|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000394374.2_Silent_p.A470A NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 337 CCTCGGCCTCGGCCGCCTCGG 0.726000 D, Mis, N, F, S parathyroid tumors, Pancreatic neuroendocrine tumors parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated Esophageal Squamous(1;83 158 15500 18603 18803 29295) yes Rec yes Multiple Endocrine Neoplasia Type 1 11 11q13 4221 multiple endocrine neoplasia type 1 gene E 0 GRCh37 CD021425 MEN1 D SO:0001819 synonymous_variant Familial Cancer Database MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism ENST00000337652.1 1 1 hg19 CCDS8083.1 TCGA-IB-AAUQ-01A-22D-A40W-08 MEN1-201 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000143881.1 1 0 0 29 194 0 54 1 8.614351e-01 9 17 0 54 2 0 0 0 0 0 2 1 1.000000 26 168 0 52 2 -3.077415 1 1 116920 1 27 1 0 0 0 2.000035 0 0.250000 1.930000 0.242424 0.990000 0.710000 1.000000 1.000000 0.949249 0.990000 1 8.600000e-01 1 OAS2 4939 broad.mit.edu 37 12 113442853 113442853 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:113442853G>A ENST00000342315.4 + 7 1508 c.1294G>A c.(1294-1296)Gtc>Atc p.V432I RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.V432I NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 28 GCACAAAATCGTCAAGGAAAT 0.507000 Pancreas(199;709 2232 18410 33584 35052) 0 SO:0001583 missense ENST00000342315.4 1 1 hg19 CCDS31906.1 . . . . . . . . . . . 0.660000 -0.806221 0.028190 . . ENSG00000111335 ENST00000342315;ENST00000392583 T;T 0.07021 3.23;3.23 4.110000 -6.580000 0.018360 2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1); 1.058010 0.07534 N 0.912661 T 0.01387 0.0045 N 0.00303 -1.675 0.093100 N 0.999999 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.001 T 0.41538 -0.9503 10 0.02654 T 1 -21.0848 6.381000 0.215330 0.2512:0.2993:0.4495:0.0 . 432;432 P29728;P29728-2 OAS2_HUMAN;. I 432 ENSP00000342278:V432I;ENSP00000376362:V432I ENSP00000342278:V432I V + 1 0 OAS2 111927236 0.018000 0.18449 0 0.037020 0.006000 0.054640 0.038000 0.13862 -1.355000 0.021860 -0.312000 0.090120 GTC TCGA-IB-AAUQ-01A-22D-A40W-08 OAS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000405937.1 1 0 1 23 146 0 53 1 9.999452e-01 20 85 0 53 2 0 0 0 0 0 2 1 0.999999 23 139 0 51 2 -20.000000 1 1 0 0 1 0 1 1 2.017306 0 0.250000 1.930000 0.249061 0.990000 0.720000 1.000000 1.000000 0.960363 0.990000 1 8.800000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 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 23.400000 4.409094 0.833400 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.807220 D 1.000000 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 . 18.371900 0.904090 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 0.803570 0.998000 0.957120 7.743000 0.85020 2.668000 0.907890 0.563000 0.778840 GGT TCGA-IB-AAUQ-01A-22D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 23 186 0 84 0 2.283932e-01 1 7 0 84 2 1 1 31 303 0 433 2 1 1.000000 23 185 0 83 2 -10.869180 1 1 121404 2 44 1 0 1 1 2.017306 0 0.250000 1.930000 0.249061 0.870000 0.580000 1.000000 1.000000 0.865459 0.870000 1 7.100000e-01 1 PDZRN4 29951 broad.mit.edu 37 12 41966623 41966623 + Missense_Mutation SNP A A C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:41966623A>C ENST00000402685.2 + 10 2050 c.2042A>C c.(2041-2043)cAg>cCg p.Q681P PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q421P NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CTTGAGTGTCAGAATATCATG 0.453000 0 SO:0001583 missense ENST00000402685.2 1 1 hg19 CCDS53777.1 . . . . . . . . . . A 14.740000 2.625622 0.468400 . . ENSG00000165966 ENST00000402685;ENST00000539469;ENST00000298919 T;T;T 0.72942 -0.7;3.77;3.77 4.490000 4.490000 0.547850 . 0.168540 0.41396 D 0.000898 T 0.80639 0.4661 L 0.56769 1.78 0.807220 D 1.000000 D;D;D 0.76494 0.999;0.993;0.985 D;P;P 0.83275 0.996;0.905;0.905 T 0.80645 -0.1290 10 0.42905 T 0.14 -37.9358 14.499900 0.677140 1.0:0.0:0.0:0.0 . 681;421;423 Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2 PZRN4_HUMAN;.;. P 681;423;421 ENSP00000384197:Q681P;ENSP00000439990:Q423P;ENSP00000298919:Q421P ENSP00000298919:Q421P Q + 2 0 PDZRN4 40252890 1.000000 0.71417 1 0.803570 0.988000 0.763860 5.146000 0.64845 1.987000 0.579960 0.528000 0.532280 CAG TCGA-IB-AAUQ-01A-22D-A40W-08 PDZRN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403701.1 1 0 1 32 241 0 70 0 0 0 1 0 70 2 0 0 0 0 0 2 1 1.000000 32 238 0 70 2 -13.923500 1 1 0 0 1 0 1 1 2.017306 0 0.250000 1.930000 0.249061 0.930000 0.660000 1.000000 1.000000 0.908255 0.930000 1 7.800000e-01 1 KRT78 196374 broad.mit.edu 37 12 53242653 53242653 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:53242653C>T ENST00000304620.4 - 1 125 c.62G>A c.(61-63)cGc>cAc p.R21H KRT78_ENST00000359499.4_5'Flank NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 18 GCCCCTTGAGCGAGCAGAACA 0.647000 0 SO:0001583 missense ENST00000304620.4 1 1 hg19 CCDS8840.1 . . . . . . . . . . C 11.980000 1.799620 0.318690 . . ENSG00000170423 ENST00000304620 T 0.75154 -0.91 5.140000 -1.840000 0.078090 . . . . . T 0.64103 0.2568 M 0.69358 2.11 0.093100 N 1.000000 B 0.15719 0.014 B 0.08055 0.003 T 0.53669 -0.8406 9 0.46703 T 0.11 . 1.087100 0.016550 0.1385:0.3492:0.2054:0.3069 . 21 Q8N1N4 K2C78_HUMAN H 21 ENSP00000306261:R21H ENSP00000306261:R21H R - 2 0 KRT78 51528920 0.000000 0.05858 0 0.037020 0.020000 0.101350 -0.799000 0.04560 -0.602000 0.057750 0.485000 0.478350 CGC TCGA-IB-AAUQ-01A-22D-A40W-08 KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406380.1 1 0 1 13 113 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 0.999361 12 104 0 26 2 -19.639160 1 1 121366 1 29 1 0 1 1 2.017306 0 0.250000 1.930000 0.249061 0.830000 0.470000 1.000000 1.000000 0.818965 0.830000 0 6.300000e-01 1 RDH5 5959 broad.mit.edu 37 12 56118220 56118220 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:56118220C>A ENST00000257895.5 + 5 1000 c.848C>A c.(847-849)cCa>cAa p.P283Q RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) p.Y281fs*>29(1) 12 Vitamin A(DB00162) CGCTACAGCCCAGGTTGGGAT 0.632000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 Deletion - Frameshift(1) SO:0001583 missense ENST00000257895.5 1 1 hg19 CCDS31829.1 . . . . . . . . . . C 29.800000 5.036463 0.936300 . . ENSG00000135437 ENST00000547072;ENST00000257895;ENST00000548082 D;D;D 0.87179 -2.22;-2.22;-2.22 4.920000 4.920000 0.645770 NAD(P)-binding domain (1); 0.121529 0.56097 D 0.000038 D 0.93171 0.7825 M 0.88450 2.955 0.453300 D 0.998329 D 0.58620 0.983 P 0.57960 0.83 D 0.94197 0.7446 10 0.62326 D 0.03 . 15.973000 0.800340 0.0:1.0:0.0:0.0 . 283 Q92781 RDH1_HUMAN Q 186;283;283 ENSP00000449927:P186Q;ENSP00000257895:P283Q;ENSP00000447128:P283Q ENSP00000257895:P283Q P + 2 0 RDH5 54404487 0.999000 0.42202 1 0.803570 0.997000 0.918780 6.045000 0.71020 2.449000 0.828470 0.561000 0.740990 CCA TCGA-IB-AAUQ-01A-22D-A40W-08 RDH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407493.1 1 0 1 83 703 0 177 1 6.405109e-01 7 13 0 177 2 0 0 0 0 0 2 1 1.000000 83 688 0 175 2 -3.075755 1 1 0 0 1 0 1 1 2.017306 0 0.250000 1.930000 0.249061 0.830000 0.670000 1.000000 1.000000 0.846554 0.830000 0 7.500000e-01 9.300000e-01 C13orf35 0 broad.mit.edu 37 13 113333852 113333852 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:113333852G>A ENST00000356049.1 + 2 917 c.159G>A c.(157-159)ccG>ccA p.P53P NM_207440.1 NP_997323.1 Q6ZP68 ATPUN_HUMAN 5 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all cancers(43;0.201) ATGAGCCGCCGATCCGAGCTC 0.607000 0 SO:0001819 synonymous_variant ENST00000356049.1 0 1 hg19 CCDS9526.1 TCGA-IB-AAUQ-01A-22D-A40W-08 C13orf35-001 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000126522.2 0 0 0 6 190 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 0.962815 6 185 0 39 2 -8.065816 1 1 0 0 1 1 2 3 2.019742 0 0.250000 1.930000 0.251870 0.260000 0.100000 0.550000 0.240000 0.286320 0.260000 0 1.700000e-01 3.800000e-01 TUBA3C 7278 broad.mit.edu 37 13 19751261 19751261 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:19751261C>T ENST00000400113.3 - 4 966 c.862G>A c.(862-864)Gtg>Atg p.V288M NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) ATCTCAGCCACGGACAGCTGC 0.607000 0 SO:0001583 missense ENST00000400113.3 1 1 hg19 CCDS9284.1 . . . . . . . . . . c 10.380000 1.334912 0.242530 . . ENSG00000198033 ENST00000400113;ENST00000360801 D 0.88046 -2.33 1.190000 1.190000 0.210070 . 0.000000 0.42294 U 0.000740 D 0.88662 0.6497 . . . 0.411880 D 0.986281 . . . . . . D 0.87966 0.2733 7 0.87932 D 0 . 8.329700 0.321780 0.0:1.0:0.0:0.0 . . . . M 288 ENSP00000382982:V288M ENSP00000354037:V288M V - 1 0 TUBA3C 18649261 1.000000 0.71417 9.850000e-01 0.450670 0.516000 0.342560 6.295000 0.72744 0.972000 0.383140 0.175000 0.170210 GTG TCGA-IB-AAUQ-01A-22D-A40W-08 TUBA3C-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044007.2 1 0 1 78 635 0 188 0 0 0 0 188 2 0 0 0 0 0 2 1 1.000000 75 620 0 195 2 -19.999990 1 0 121412 3 40 1 0.250000 1.930000 0 0 FRY 10129 broad.mit.edu 37 13 32850630 32850630 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:32850630C>T ENST00000380250.3 + 57 8812 c.8316C>T c.(8314-8316)ctC>ctT p.L2772L FRY_ENST00000542859.1_Silent_p.L142L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 132 Lung SC(185;0.0271) TGGACAAGCTCAAGTTCAGTG 0.393000 0 SO:0001819 synonymous_variant ENST00000380250.3 1 1 hg19 CCDS41875.1 . . . . . . . . . . C 9.396000 1.076814 0.202270 . . ENSG00000073910 ENST00000380235 . . . 5.600000 3.790000 0.435880 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.13108 T 0.6 . 10.135000 0.427010 0.2105:0.4488:0.3407:0.0 . . . . X 400 . ENSP00000369567:Q400X Q + 1 0 FRY 31748630 1.000000 0.71417 1 0.803570 0.976000 0.684990 1.111000 0.31159 1.343000 0.456380 0.555000 0.697020 CAA TCGA-IB-AAUQ-01A-22D-A40W-08 FRY-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044405.1 1 0 1 39 306 0 110 1 9.967684e-01 9 62 0 110 2 0 0 0 0 0 2 1 1.000000 39 301 0 110 2 -15.096690 1 1 0 0 1 1 2 3 2.019742 0 0.250000 1.930000 0.251870 0.900000 0.660000 1.000000 1.000000 0.894018 0.900000 1 7.700000e-01 1 VPS36 51028 broad.mit.edu 37 13 53013235 53013235 + Missense_Mutation SNP C C G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:53013235C>G ENST00000378060.4 - 3 261 c.234G>C c.(232-234)aaG>aaC p.K78N VPS36_ENST00000480923.1_5'UTR NM_001282168.1|NM_001282169.1|NM_016075.2 NP_001269097.1|NP_001269098.1|NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) AGACTTACCTCTTCCCAATTC 0.408000 0 SO:0001583 missense ENST00000378060.4 1 1 hg19 CCDS9434.1 . . . . . . . . . . . 15.650000 2.895224 0.521210 . . ENSG00000136100 ENST00000378060 . . . 5.140000 3.100000 0.357090 . 0.000000 0.85682 D 0.000000 T 0.57198 0.2037 M 0.69823 2.125 0.807220 D 1.000000 P 0.36392 0.551 B 0.42462 0.388 T 0.57590 -0.7785 9 0.49607 T 0.09 -0.4756 6.506200 0.221960 0.0:0.5215:0.0:0.4784 . 78 Q86VN1 VPS36_HUMAN N 78 . ENSP00000367299:K78N K - 3 2 VPS36 51911236 1.000000 0.71417 1 0.803570 0.942000 0.587020 0.937000 0.28951 1.124000 0.419800 0.655000 0.942530 AAG TCGA-IB-AAUQ-01A-22D-A40W-08 VPS36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045059.3 1 0 1 33 214 0 73 0 6.196373e-01 0 15 0 73 2 0 0 0 0 0 2 1 1.000000 33 214 0 72 2 -20.000000 1 1 0 0 1 1 2 3 2.019742 0 0.250000 1.930000 0.251870 0.990000 0.760000 1.000000 1.000000 0.966485 0.990000 1 9.000000e-01 1 DLGAP5 9787 broad.mit.edu 37 14 55618581 55618581 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:55618581C>T ENST00000247191.2 - 17 2416 c.2200G>A c.(2200-2202)Gca>Aca p.A734T DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 44 ATATCATCTGCTACTCCACCA 0.358000 0 SO:0001583 missense ENST00000247191.2 1 1 hg19 CCDS9723.1 . . . . . . . . . . C 10.380000 1.335122 0.242530 . . ENSG00000126787 ENST00000395425;ENST00000247191 T;T 0.31510 1.49;1.49 4.080000 0.032100 0.141740 . 1.039760 0.07679 N 0.936753 T 0.18215 0.0437 L 0.32530 0.975 0.093100 N 1.000000 P;P 0.45126 0.851;0.851 B;B 0.37550 0.253;0.253 T 0.17930 -1.0353 10 0.66056 D 0.02 . 1.151400 0.017860 0.1548:0.4127:0.1513:0.2812 . 734;734 A8MTM6;Q15398 .;DLGP5_HUMAN T 734 ENSP00000378815:A734T;ENSP00000247191:A734T ENSP00000247191:A734T A - 1 0 DLGAP5 54688334 0.000000 0.05858 0 0.037020 0.759000 0.430910 -1.321000 0.02697 -0.111000 0.120010 -0.857000 0.030180 GCA TCGA-IB-AAUQ-01A-22D-A40W-08 DLGAP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276908.2 1 0 1 24 222 0 59 1 5.753684e-01 9 10 0 59 2 0 0 0 0 0 2 1 1.000000 24 220 0 56 2 -20.000000 1 1 121404 1 31 1 0 0 0 1.991053 0 0.250000 1.930000 0.238579 0.760000 0.510000 1.000000 1.000000 0.777692 0.760000 0 6.300000e-01 9.300000e-01 PCNX 22990 broad.mit.edu 37 14 71455320 71455320 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:71455320G>A ENST00000304743.2 + 7 2794 c.2348G>A c.(2347-2349)cGt>cAt p.R783H PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.R783H NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) TCATTTCGCCGTGAACGCAGC 0.547000 0 SO:0001583 missense ENST00000304743.2 0 1 hg19 CCDS9806.1 . . . . . . . . . . G 25.000000 4.596374 0.869530 . . ENSG00000100731 ENST00000304743;ENST00000238570 T;T 0.01059 5.39;5.39 5.010000 5.010000 0.668630 . 0.110787 0.64402 D 0.000008 T 0.05640 0.0148 L 0.55481 1.735 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.87578 0.991;0.998 T 0.47911 -0.9080 10 0.42905 T 0.14 . 18.868400 0.923030 0.0:0.0:1.0:0.0 . 783;783 Q96RV3;Q96RV3-2 PCX1_HUMAN;. H 783 ENSP00000304192:R783H;ENSP00000238570:R783H ENSP00000238570:R783H R + 2 0 PCNX 70525073 1.000000 0.71417 1 0.803570 0.967000 0.649340 9.203000 0.95033 2.767000 0.950980 0.591000 0.815410 CGT TCGA-IB-AAUQ-01A-22D-A40W-08 PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412479.1 0 0 0 5 534 0 189 0 4.254880e-04 0 3 0 189 2 0 0 0 0 0 2 1 0.934362 5 523 0 186 2 -2.585469 1 1 121412 3 39 1 0 0 0 1.991053 0 0.250000 1.930000 0.238579 0.070000 0.020000 0.160000 0.070000 0.086886 0.070000 0 4.000000e-02 1.200000e-01 SPG11 80208 broad.mit.edu 37 15 44888457 44888457 + Missense_Mutation SNP T T A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:44888457T>A ENST00000261866.7 - 25 4274 c.4258A>T c.(4258-4260)Agc>Tgc p.S1420C SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) ACTTGATCGCTGTCCATTTTG 0.473000 0 SO:0001583 missense ENST00000261866.7 1 1 hg19 CCDS10112.1 . . . . . . . . . . T 10.150000 1.270572 0.232210 . . ENSG00000104133 ENST00000261866;ENST00000535302;ENST00000427534 T;T;T 0.79033 -1.23;-1.23;-1.23 4.930000 -0.240000 0.130470 . 0.760869 0.12223 N 0.488178 T 0.74129 0.3676 L 0.47716 1.5 0.093100 N 1.000000 B;D;D 0.55800 0.001;0.959;0.973 B;P;P 0.51999 0.001;0.687;0.513 T 0.63453 -0.6634 10 0.62326 D 0.03 . 4.787900 0.132340 0.1363:0.2567:0.0:0.607 . 1420;1420;1420 C4B7M2;F5H3N6;Q96JI7 .;.;SPTCS_HUMAN C 1420 ENSP00000261866:S1420C;ENSP00000445278:S1420C;ENSP00000396110:S1420C ENSP00000261866:S1420C S - 1 0 SPG11 42675749 0.001000 0.12720 0 0.037020 0.012000 0.079550 0.796000 0.26986 0.033000 0.154630 -0.333000 0.083040 AGC TCGA-IB-AAUQ-01A-22D-A40W-08 SPG11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253927.1 1 0 1 46 493 0 182 1 7.396060e-01 4 26 0 182 2 0 0 0 0 0 2 1 1.000000 45 488 0 181 2 -12.894250 1 1 0 0 1 0 0 0 2.009260 0 0.250000 1.930000 0.246231 0.670000 0.500000 0.870000 0.670000 0.687558 0.670000 0 5.800000e-01 7.800000e-01 CYP1A2 1544 broad.mit.edu 37 15 75042757 75042757 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:75042757C>T ENST00000343932.4 + 2 741 c.678C>T c.(676-678)ttC>ttT p.F226F NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 p.F226F(2) 33 """Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)" CTCATGAGTTCGTGGAGACTG 0.572000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000343932.4 1 1 hg19 CCDS32293.1 TCGA-IB-AAUQ-01A-22D-A40W-08 CYP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421263.2 1 0 0 102 639 0 177 0 0 0 0 177 2 0 0 0 0 0 2 1 1.000000 101 634 0 176 2 -20.000000 1 1 0 0 1 0 0 0 2.009260 0 0.250000 1.930000 0.246231 0.990000 0.900000 1.000000 1.000000 0.991978 0.990000 1 9.900000e-01 1 TMC5 79838 broad.mit.edu 37 16 19498557 19498557 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:19498557C>T ENST00000396229.2 + 17 3231 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 p.R828W(1)|p.R582W(1) 31 CAAAGCCTGGCGGGCCTCACA 0.567000 2 Substitution - Missense(2) SO:0001583 missense ENST00000396229.2 1 1 hg19 CCDS45431.1 . . . . . . . . . . C 21.700000 4.187204 0.787890 . . ENSG00000103534 ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743 T;T;T;T;T 0.71579 -0.58;-0.58;-0.58;-0.58;-0.58 5.720000 3.680000 0.422160 . 0.284410 0.37304 N 0.002141 D 0.85643 0.5744 M 0.92555 3.32 0.530050 D 0.999960 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 0.999;1.0;0.999;1.0;0.999;0.999 D 0.85936 0.1455 10 0.87932 D 0 -21.0866 9.062400 0.364420 0.4067:0.4586:0.1346:0.0 . 776;511;582;582;828;828 F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2 .;.;.;.;TMC5_HUMAN;. W 776;828;828;828;582;511 ENSP00000441227:R776W;ENSP00000370822:R828W;ENSP00000379531:R828W;ENSP00000446274:R828W;ENSP00000219821:R582W ENSP00000219821:R582W R + 1 2 TMC5 19406058 1.000000 0.71417 1 0.803570 0.997000 0.918780 2.706000 0.47135 0.699000 0.317610 0.655000 0.942530 CGG TCGA-IB-AAUQ-01A-22D-A40W-08 TMC5-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000435888.1 1 0 0 37 226 0 59 1 9.999988e-01 25 106 0 59 2 0 0 0 0 0 2 1 1.000000 37 224 0 55 2 -3.145934 1 1 0 0 1 1 2 3 2.082700 0 0.250000 1.930000 0.263804 0.990000 0.840000 1.000000 1.000000 0.986345 0.990000 1 9.900000e-01 1 CACNG3 10368 broad.mit.edu 37 16 24366270 24366270 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:24366270G>A ENST00000005284.3 + 3 1614 c.412G>A c.(412-414)Gcg>Acg p.A138T NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 p.A138T(1) 40 CATTCTCAGCGCGGGCATCTT 0.572000 1 Substitution - Missense(1) SO:0001583 missense ENST00000005284.3 1 1 hg19 CCDS10620.1 . . . . . . . . . . G 36.000000 5.763234 0.969060 . . ENSG00000006116 ENST00000005284 D 0.89617 -2.54 5.410000 5.410000 0.785170 . 0.112679 0.64402 D 0.000015 D 0.91633 0.7356 M 0.82132 2.575 0.807220 D 1.000000 P 0.51653 0.947 P 0.47827 0.558 D 0.91099 0.4913 10 0.39692 T 0.17 -12.7101 18.986400 0.927710 0.0:0.0:1.0:0.0 . 138 O60359 CCG3_HUMAN T 138 ENSP00000005284:A138T ENSP00000005284:A138T A + 1 0 CACNG3 24273771 1.000000 0.71417 9.960000e-01 0.522420 0.998000 0.957120 8.961000 0.93122 2.815000 0.969180 0.561000 0.740990 GCG TCGA-IB-AAUQ-01A-22D-A40W-08 CACNG3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254548.1 1 0 1 38 205 0 57 0 0 0 0 57 2 0 0 0 0 0 2 1 1.000000 38 201 0 56 2 -20.000000 1 1 0 0 1 1 2 3 2.082700 0 0.250000 1.930000 0.263804 0.990000 0.940000 1.000000 1.000000 0.996491 0.990000 1 9.900000e-01 1 HYDIN 54768 broad.mit.edu 37 16 70841641 70841641 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:70841641G>A ENST00000393567.2 - 86 15358 c.15208C>T c.(15208-15210)Cgg>Tgg p.R5070W NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 43 Ovarian(137;0.0654) TTCTTGGGCCGCACAGACTCT 0.517000 0 SO:0001583 missense ENST00000393567.2 0 1 hg19 CCDS59269.1 . . . . . . . . . . G 16.370000 3.104288 0.562910 . . ENSG00000157423 ENST00000393567;ENST00000316490 T 0.00966 5.49 6.160000 4.180000 0.491900 . 0.373546 0.14700 U 0.303581 T 0.05640 0.0148 M 0.78223 2.4 0.807220 D 1.000000 D 0.89917 1.0 D 0.69307 0.963 T 0.10337 -1.0634 10 0.72032 D 0.01 . 15.109000 0.723400 0.0:0.0:0.7129:0.2871 . 5069 F8WD23 . W 5070;5069 ENSP00000377197:R5070W ENSP00000313052:R5069W R - 1 2 HYDIN 69399142 0.632000 0.27172 9.230000e-01 0.366550 0.267000 0.264760 2.233000 0.43027 0.879000 0.359440 0.650000 0.862430 CGG TCGA-IB-AAUQ-01A-22D-A40W-08 HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 0 0 0 5 406 1 102 0 1.436265e-03 0 4 1 102 2 0 0 0 0 0 2 0 0.017001 5 397 1 101 15 -1.811121 0 1 121008 20 45 1 0 1 1 1.836021 1 0.250000 1.930000 0.142857 0.080000 0.030000 0.190000 0.080000 0.100206 0.080000 0 5.000000e-02 1.400000e-01 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:7578395G>A ENST00000269305.4 - 5 724 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CAGCGCTCATGGTGGGGGCAG 0.642000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 197 Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1) GRCh37 CM067054 TP53 M SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . G 32.000000 5.137178 0.945170 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99909 -7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87 5.590000 5.590000 0.848120 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.048592 0.85682 D 0.000000 D 0.99914 0.9959 M 0.88640 2.97 0.807220 D 1.000000 D;D;D;D;D;D;D 0.89917 0.992;1.0;0.989;1.0;0.999;1.0;0.997 D;D;D;D;D;D;D 0.97110 0.953;0.997;0.941;1.0;0.993;0.995;0.958 D 0.96190 0.9137 10 0.87932 D 0 -15.4889 17.478400 0.876670 0.0:0.0:1.0:0.0 . 140;179;179;86;179;179;179 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. Y 179;179;179;179;179;179;168;86;47;86;47 ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y ENSP00000269305:H179Y H - 1 0 TP53 7519120 1.000000 0.71417 9.900000e-01 0.471750 0.864000 0.494480 9.813000 0.99286 2.804000 0.964690 0.655000 0.942530 CAT TCGA-IB-AAUQ-01A-22D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 20 214 0 76 1 6.070414e-01 6 17 0 76 2 1 1 136 716 0 991 2 1 0.999995 20 206 0 75 2 -3.221889 1 1 0 0 1 0 1 1 1.771623 1 0.250000 1.930000 0.142857 0.590000 0.370000 0.850000 0.580000 0.605711 0.590000 0 4.700000e-01 7.300000e-01 CCDC105 126402 broad.mit.edu 37 19 15121740 15121740 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:15121740C>T ENST00000292574.3 + 1 185 c.103C>T c.(103-105)Ctg>Ttg p.L35L SLC1A6_ENST00000430939.2_5'Flank NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 23 CGCGCACATTCTGACCGATCG 0.706000 0 SO:0001819 synonymous_variant ENST00000292574.3 0 1 hg19 CCDS12322.1 TCGA-IB-AAUQ-01A-22D-A40W-08 CCDC105-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466293.1 0 0 0 3 38 0 9 0 0 0 0 9 2 0 0 0 0 0 2 1 0.812643 3 38 0 9 2 -7.782119 1 1 0 0 1 1 2 3 2.141288 1 0.250000 1.930000 0.294118 0.840000 0.220000 1.000000 1.000000 0.764654 0.840000 0 4.400000e-01 1 UBA2 10054 broad.mit.edu 37 19 34922781 34922781 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:34922781G>A ENST00000246548.4 + 3 308 c.238G>A c.(238-240)Gta>Ata p.V80I UBA2_ENST00000439527.2_5'UTR NM_005499.2 NP_005490.1 Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CAAGGAAAGTGTACTGCAGTT 0.368000 0 SO:0001583 missense ENST00000246548.4 1 1 hg19 CCDS12439.1 . . . . . . . . . . G 16.740000 3.205694 0.582340 . . ENSG00000126261 ENST00000246548 T 0.26957 1.7 5.370000 5.370000 0.771650 UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1); 0.115591 0.64402 D 0.000017 T 0.26629 0.0651 L 0.39566 1.225 0.807220 D 1.000000 B 0.28128 0.201 B 0.31390 0.129 T 0.02909 -1.1095 10 0.38643 T 0.18 -18.4752 17.879400 0.888350 0.0:0.0:1.0:0.0 . 80 Q9UBT2 SAE2_HUMAN I 80 ENSP00000246548:V80I ENSP00000246548:V80I V + 1 0 UBA2 39614621 1.000000 0.71417 9.990000e-01 0.593770 0.865000 0.495280 9.154000 0.94694 2.497000 0.842410 0.563000 0.778840 GTA TCGA-IB-AAUQ-01A-22D-A40W-08 UBA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459257.3 0 0 1 77 453 1 161 1 9.491894e-01 8 23 1 161 2 0 0 0 0 0 2 1 1.000000 76 449 1 161 13 -20.000000 1 1 0 0 1 0 1 1 1.750996 1 0.250000 1.930000 0.148936 0.960000 0.790000 1.000000 1.000000 0.948961 0.960000 1 8.800000e-01 1 EID2B 126272 broad.mit.edu 37 19 40023035 40023035 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40023035G>A ENST00000326282.4 - 1 459 c.408C>T c.(406-408)ccC>ccT p.P136P CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron NM_152361.1 NP_689574.1 EP300 interacting inhibitor of differentiation 2B 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCATCTGCGGGGGATCCGCGT 0.597000 0 SO:0001819 synonymous_variant ENST00000326282.4 1 1 hg19 CCDS12539.1 TCGA-IB-AAUQ-01A-22D-A40W-08 EID2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464961.1 1 0 0 67 630 0 43 0 3.647213e-01 0 13 0 43 2 0 0 0 0 0 2 1 1.000000 64 619 0 43 2 -19.412920 1 1 0 0 1 1 15 16 5.629819 1 0.250000 1.930000 0.725526 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 CYP2A6 1548 broad.mit.edu 37 19 41351999 41351999 + Missense_Mutation SNP C C G rs58261757 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:41351999C>G ENST00000301141.5 - 6 855 c.835G>C c.(835-837)Gag>Cag p.E279Q CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495) GGGTTCTTCTCCTCCTGCAGG 0.557000 0 SO:0001583 missense ENST00000301141.5 1 1 hg19 CCDS12568.1 . . . . . . . . . . - 8.649000 0.897840 0.176860 . . ENSG00000255974 ENST00000301141 T 0.01359 4.98 1.990000 -2.410000 0.065620 . 0.182114 0.45867 N 0.000324 T 0.00906 0.0030 N 0.17278 0.47 0.250780 N 0.990946 B;B 0.06786 0.001;0.0 B;B 0.06405 0.001;0.002 T 0.44267 -0.9339 10 0.66056 D 0.02 . 4.818800 0.133790 0.0:0.1219:0.3378:0.5403 rs58261757 279;279 Q13120;P11509 .;CP2A6_HUMAN Q 279 ENSP00000301141:E279Q ENSP00000301141:E279Q E - 1 0 CYP2A6 46043839 0.065000 0.20965 7.300000e-01 0.308090 0.726000 0.416060 0.137000 0.15995 -0.649000 0.054300 -0.552000 0.042080 GAG TCGA-IB-AAUQ-01A-22D-A40W-08 CYP2A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463259.1 1 0 1 42 145 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 1.000000 41 137 0 50 2 -4.052170 1 1 0 0 1 0 2 2 1.963759 1 0.250000 1.930000 0.250000 0.990000 0.990000 1.000000 1.000000 0.999996 0.990000 1 9.900000e-01 1 TEX101 83639 broad.mit.edu 37 19 43922079 43922079 + Silent SNP G G T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:43922079G>T ENST00000598265.1 + 5 607 c.441G>T c.(439-441)ggG>ggT p.G147G TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G NM_001130011.1 NP_001123483.1 Q9BY14 TX101_HUMAN testis expressed 101 p.G165G(1) 15 Prostate(69;0.0199) TGGCTTTGGGGACCTGTTTCA 0.493000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000598265.1 0 1 hg19 CCDS59393.1 TCGA-IB-AAUQ-01A-22D-A40W-08 TEX101-004 KNOWN non_canonical_other|basic|CCDS protein_coding protein_coding OTTHUMT00000463176.1 0 0 0 7 728 1 174 0 0 0 1 174 2 0 0 0 0 0 2 0 0.060630 7 718 1 173 15 -2.318518 0 1 0 0 1 0 1 1 1.996078 1 0.250000 1.930000 0.142857 0.060000 0.020000 0.130000 0.070000 0.075356 0.060000 0 4.000000e-02 1.000000e-01 DUS3L 56931 broad.mit.edu 37 19 5789413 5789413 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:5789413G>C ENST00000309061.7 - 3 801 c.705C>G c.(703-705)ttC>ttG p.F235L DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) p.F235F(1) 14 GGCCCTGGCTGAACCGGCGCA 0.726000 1 Substitution - coding silent(1) SO:0001583 missense ENST00000309061.7 0 1 hg19 CCDS32880.1 . . . . . . . . . . G 1.085000 -0.665736 0.034280 . . ENSG00000141994 ENST00000309061 T 0.14266 2.52 4.530000 -9.070000 0.007240 . 0.376802 0.24143 N 0.041152 T 0.01387 0.0045 N 0.00382 -1.575 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.35773 -0.9775 10 0.02654 T 1 -9.2867 0.113000 0.000580 0.2789:0.1848:0.2504:0.2858 . 235 Q96G46 DUS3L_HUMAN L 235 ENSP00000311977:F235L ENSP00000311977:F235L F - 3 2 DUS3L 5740413 0.000000 0.05858 0 0.037020 0.006000 0.054640 -3.253000 0.00539 -2.940000 0.002970 -1.330000 0.012730 TTC TCGA-IB-AAUQ-01A-22D-A40W-08 DUS3L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451870.2 1 0 0 6 30 0 12 1 6.787930e-01 8 5 0 12 2 0 0 0 0 0 2 1 0.969555 6 30 0 11 2 -13.754680 1 1 0 0 1 0 1 1 1.746801 1 0.250000 1.930000 0.142857 0.800000 0.410000 0.990000 0.990000 0.777538 0.800000 0 6.000000e-01 9.400000e-01 ZNF606 80095 broad.mit.edu 37 19 58491598 58491598 + Missense_Mutation SNP A A C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:58491598A>C ENST00000341164.4 - 7 1070 c.450T>G c.(448-450)atT>atG p.I150M ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) CTTCCTCAAAAATGCTCTGTG 0.383000 0 SO:0001583 missense ENST00000341164.4 1 1 hg19 CCDS12968.1 . . . . . . . . . . A 10.460000 1.357244 0.245980 . . ENSG00000166704 ENST00000341164;ENST00000536132;ENST00000551380 T;T;T 0.32023 1.47;2.78;1.47 4.880000 2.730000 0.322060 . 0.165679 0.28577 N 0.014847 T 0.19886 0.0478 L 0.38175 1.15 0.197750 N 0.999955 P 0.36438 0.553 B 0.30029 0.11 T 0.09707 -1.0662 10 0.52906 T 0.07 . 8.191400 0.313700 0.4706:0.0:0.0:0.5294 . 150 Q8WXB4 ZN606_HUMAN M 150;60;150 ENSP00000343617:I150M;ENSP00000445624:I60M;ENSP00000446972:I150M ENSP00000343617:I150M I - 3 3 ZNF606 63183410 . . 9.910000e-01 0.477400 0.994000 0.842990 . . 0.301000 0.227380 0.533000 0.621200 ATT TCGA-IB-AAUQ-01A-22D-A40W-08 ZNF606-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405961.1 1 0 0 48 453 0 134 1 5.047838e-02 2 2 0 134 2 0 0 0 0 0 2 1 1.000000 48 445 0 134 2 -15.292290 1 1 0 0 1 0 2 2 2.010156 1 0.250000 1.930000 0.250000 0.760000 0.570000 0.980000 0.760000 0.773665 0.760000 0 6.600000e-01 8.800000e-01 ARHGEF11 9826 broad.mit.edu 37 1 156939813 156939813 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:156939813T>C ENST00000361409.2 - 8 1347 c.605A>G c.(604-606)gAc>gGc p.D202G ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D242G NM_014784.3 NP_055599.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGCTGGTGTCACCATATAG 0.507000 0 SO:0001583 missense ENST00000361409.2 1 1 hg19 CCDS1162.1 . . . . . . . . . . T 9.766000 1.171349 0.216210 . . ENSG00000132694 ENST00000368194;ENST00000361409 T;T 0.67698 -0.28;-0.25 5.400000 4.220000 0.498570 . 0.094778 0.45867 D 0.000338 T 0.33702 0.0872 N 0.24115 0.695 0.291010 N 0.881483 B;B 0.28055 0.062;0.199 B;B 0.30572 0.039;0.117 T 0.13150 -1.0520 10 0.38643 T 0.18 -18.8939 9.416800 0.385250 0.0:0.0:0.1782:0.8218 . 202;242 O15085;O15085-2 ARHGB_HUMAN;. G 242;202 ENSP00000357177:D242G;ENSP00000354644:D202G ENSP00000354644:D202G D - 2 0 ARHGEF11 155206437 0.077000 0.21312 7.320000e-01 0.308440 0.156000 0.220390 1.293000 0.33353 2.277000 0.760200 0.528000 0.532280 GAC TCGA-IB-AAUQ-01A-22D-A40W-08 ARHGEF11-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000098931.1 1 0 0 35 351 0 75 1 2.368637e-01 2 8 0 75 2 0 0 0 0 0 2 1 1.000000 35 346 0 75 2 -11.682480 1 1 0 0 1 0 0 0 1.992854 0 0.250000 1.930000 0.238579 0.710000 0.510000 0.950000 0.710000 0.724436 0.710000 0 6.000000e-01 8.400000e-01 NFASC 23114 broad.mit.edu 37 1 204970416 204970416 + Splice_Site SNP T T A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:204970416T>A ENST00000401399.1 + 25 3335 c.e25+2 NFASC_ENST00000338586.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Splice_Site O94856 NFASC_HUMAN neurofascin 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACATCGACAGTAAGCATTGCT 0.577000 0 SO:0001630 splice_region_variant ENST00000401399.1 0 1 hg19 CCDS53460.1 . . . . . . . . . . T 24.500000 4.541581 0.859170 . . ENSG00000163531 ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399;ENST00000413225 . . . 5.390000 5.390000 0.778230 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 15.103500 0.723030 0.0:0.0:0.0:1.0 . . . . . -1 . . . + . . NFASC 203237039 1.000000 0.71417 1 0.803570 0.997000 0.918780 6.978000 0.76147 2.054000 0.611380 0.533000 0.621200 . TCGA-IB-AAUQ-01A-22D-A40W-08 NFASC-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000131237.1 1 0 1 9 71 0 21 0 0 0 1 0 21 2 0 0 0 0 0 2 1 0.994507 9 69 0 21 2 -15.813800 1 1 0 0 1 0 0 0 1.992854 0 0.250000 1.930000 0.238579 0.890000 0.450000 1.000000 1.000000 0.847400 0.890000 1 6.400000e-01 1 CR2 1380 broad.mit.edu 37 1 207640107 207640107 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:207640107G>A ENST00000367058.3 + 2 484 c.295G>A c.(295-297)Gga>Aga p.G99R CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367057.3_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R NM_001877.4 NP_001868.2 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 p.G99*(1) 69 AGTACCAGGAGGATACAAAAT 0.408000 1 Substitution - Nonsense(1) SO:0001583 missense ENST00000367058.3 1 1 hg19 CCDS1478.1 . . . . . . . . . . G 17.720000 3.458973 0.634010 . . ENSG00000117322 ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541 T;T;T;T 0.69926 -0.44;-0.44;-0.44;-0.44 5.000000 4.010000 0.465880 Complement control module (2);Sushi/SCR/CCP (3); . . . . D 0.82287 0.5004 M 0.91140 3.18 0.305490 N 0.765697 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.77864 -0.2429 9 0.37606 T 0.19 . 7.473400 0.273610 0.117:0.0:0.883:0.0 . 99;99;99 Q5SR47;P20023;P20023-3 .;CR2_HUMAN;. R 99 ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R ENSP00000356024:G99R G + 1 0 CR2 205706730 0.570000 0.26651 8.670000e-01 0.340430 0.013000 0.082790 2.467000 0.45093 2.607000 0.881790 0.655000 0.942530 GGA TCGA-IB-AAUQ-01A-22D-A40W-08 CR2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000088274.1 1 0 1 47 319 0 113 0 0 0 0 113 2 0 0 0 0 0 2 1 1.000000 47 314 0 112 2 -2.716819 1 1 0 0 1 0 0 0 1.992854 0 0.250000 1.930000 0.238579 0.990000 0.760000 1.000000 1.000000 0.954635 0.990000 1 8.700000e-01 1 PRSS38 339501 broad.mit.edu 37 1 228004950 228004950 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:228004950G>A ENST00000366757.3 + 3 376 c.352G>A c.(352-354)Gta>Ata p.V118I NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 23 CGTAGGCCTCGTAAACCTCAG 0.552000 0 SO:0001583 missense ENST00000366757.3 1 1 hg19 CCDS1563.1 . . . . . . . . . . G 9.126000 1.010207 0.192770 . . ENSG00000185888 ENST00000366757 D 0.88509 -2.39 4.230000 -3.160000 0.052170 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 1.107840 0.07072 N 0.835620 T 0.66197 0.2765 N 0.02181 -0.65 0.093100 N 1.000000 P 0.44627 0.839 B 0.36719 0.231 T 0.62923 -0.6751 10 0.23302 T 0.38 . 5.858800 0.187340 0.5945:0.1533:0.2521:0.0 . 118 A1L453 PRS38_HUMAN I 118 ENSP00000355719:V118I ENSP00000355719:V118I V + 1 0 PRSS38 226071573 0.000000 0.05858 1.000000e-03 0.086480 0.076000 0.172110 0.169000 0.16641 -0.633000 0.055450 0.655000 0.942530 GTA TCGA-IB-AAUQ-01A-22D-A40W-08 PRSS38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091981.1 1 0 1 33 250 0 74 0 0 0 0 74 2 0 0 0 0 0 2 1 1.000000 33 243 0 72 2 -20.000000 1 1 121412 6 39 1 0 0 0 1.992751 0 0.250000 1.930000 0.238579 0.910000 0.650000 1.000000 1.000000 0.897646 0.910000 1 7.700000e-01 1 EPHB2 2048 broad.mit.edu 37 1 23239043 23239043 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:23239043G>A ENST00000400191.3 + 15 2821 c.2803G>A c.(2803-2805)Gcc>Acc p.A935T EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) GGAGAGCTTCGCCAATGCCGG 0.592000 0 SO:0001583 missense ENST00000400191.3 1 1 hg19 . . . . . . . . . . G 3.400000 -0.122403 0.067950 . . ENSG00000133216 ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627 T;T;T;T 0.06608 3.28;3.28;3.28;3.28 4.780000 3.850000 0.443700 Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1); 0.066497 0.64402 N 0.000012 T 0.04227 0.0117 L 0.31664 0.95 0.807220 D 1.000000 B;B;B;B 0.17852 0.006;0.024;0.013;0.006 B;B;B;B 0.21708 0.0;0.036;0.014;0.005 T 0.20571 -1.0271 10 0.02654 T 1 . 8.422700 0.327100 0.0846:0.1545:0.7609:0.0 . 877;935;953;936 A6NJM0;P29323;Q4LE53;P29323-3 .;EPHB2_HUMAN;.;. T 877;935;935;936;930 ENSP00000363761:A935T;ENSP00000383053:A935T;ENSP00000363763:A936T;ENSP00000363758:A930T ENSP00000363755:A877T A + 1 0 EPHB2 23111630 1.000000 0.71417 9.990000e-01 0.593770 0.796000 0.449820 3.149000 0.50655 1.361000 0.459810 0.650000 0.862430 GCC TCGA-IB-AAUQ-01A-22D-A40W-08 EPHB2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000008060.2 0 0 1 30 265 0 68 1 9.805506e-01 11 47 0 68 2 0 0 0 0 0 2 1 1.000000 30 259 0 68 2 -3.075757 1 1 121412 3 35 1 1 2 3 2.033892 0 0.250000 1.930000 0.254658 0.820000 0.570000 1.000000 1.000000 0.829043 0.820000 0 6.900000e-01 9.900000e-01 RUNX3 864 broad.mit.edu 37 1 25229012 25229012 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:25229012C>T ENST00000308873.6 - 5 857 c.849G>A c.(847-849)acG>acA p.T283T RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000399916.1_Silent_p.T297T|RUNX3_ENST00000496967.1_5'Flank NM_004350.2 NP_004341.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) TGCCCGAGGGCGTGGCGCTGT 0.701000 0 SO:0001819 synonymous_variant ENST00000308873.6 1 1 hg19 CCDS257.1 TCGA-IB-AAUQ-01A-22D-A40W-08 RUNX3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000009284.1 1 0 0 36 331 0 76 0 1.155721e-01 0 6 0 76 2 0 0 0 0 0 2 1 1.000000 36 323 0 75 2 -20.000000 1 1 121364 1 35 1 1 2 3 2.033892 0 0.250000 1.930000 0.254658 0.790000 0.560000 1.000000 1.000000 0.804545 0.790000 0 6.700000e-01 9.400000e-01 CDH22 64405 broad.mit.edu 37 20 44839199 44839199 + Splice_Site SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr20:44839199G>A ENST00000372262.3 - 6 1433 c.1033C>T c.(1033-1035)Cgc>Tgc p.R345C CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 44 Myeloproliferative disorder(115;0.0122) AAGTCCAGGCGCTGCGGGAGG 0.672000 0 SO:0001630 splice_region_variant ENST00000372262.3 1 0 hg19 CCDS13395.1 . . . . . . . . . . G 14.670000 2.603952 0.464230 . . ENSG00000149654 ENST00000372262;ENST00000537909 T;T 0.54479 0.57;0.57 4.250000 0.999000 0.198620 Cadherin (5);Cadherin-like (1); 0.640659 0.15642 N 0.251802 T 0.42177 0.1191 L 0.59436 1.845 0.423000 D 0.992174 B 0.15473 0.013 B 0.10450 0.005 T 0.43491 -0.9388 10 0.87932 D 0 . 2.403000 0.044060 0.1653:0.1518:0.5267:0.1562 . 345 Q9UJ99 CAD22_HUMAN C 345 ENSP00000361336:R345C;ENSP00000437790:R345C ENSP00000361336:R345C R - 1 0 CDH22 44272606 1.000000 0.71417 9.950000e-01 0.509660 0.950000 0.603330 3.050000 0.49877 0.411000 0.257020 0.555000 0.697020 CGC TCGA-IB-AAUQ-01A-22D-A40W-08 CDH22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080491.1 1 0 1 23 159 0 47 0 1.321096e-01 0 5 0 47 2 0 0 0 0 0 2 1 1.000000 21 157 0 46 2 -3.321266 1 1 0 0 1 0 0 0 1.973398 0 0.250000 1.930000 0.230769 0.980000 0.650000 1.000000 1.000000 0.924113 0.980000 1 8.000000e-01 1 KRTAP12-3 386683 broad.mit.edu 37 21 46078062 46078062 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr21:46078062G>A ENST00000397907.1 + 1 214 c.166G>A c.(166-168)Gtg>Atg p.V56M TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 7 CTCCGTGTGCGTGCCCGTGAG 0.642000 0 SO:0001583 missense ENST00000397907.1 1 1 hg19 CCDS42964.1 . . . . . . . . . . g 9.432000 1.085873 0.203900 . . ENSG00000205439 ENST00000397907 T 0.08546 3.08 4.250000 -2.920000 0.056150 . . . . . T 0.04588 0.0125 . . . 0.093100 N 1.000000 P 0.34587 0.458 B 0.22880 0.042 T 0.33599 -0.9862 8 0.45353 T 0.12 . 8.130500 0.310240 0.1538:0.4843:0.3619:0.0 . 56 P60328 KR123_HUMAN M 56 ENSP00000381005:V56M ENSP00000381005:V56M V + 1 0 KRTAP12-3 44902490 0.000000 0.05858 0 0.037020 0.003000 0.035180 -1.847000 0.01675 -0.473000 0.068710 -0.691000 0.037190 GTG TCGA-IB-AAUQ-01A-22D-A40W-08 KRTAP12-3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128033.1 1 0 1 54 390 1 120 0 0 0 1 120 2 0 0 0 0 0 2 1 1.000000 53 383 0 115 2 -19.797930 1 1 121242 7 41 1 0 0 0 1.998577 0 0.250000 1.930000 0.240506 0.950000 0.730000 1.000000 1.000000 0.932816 0.950000 1 8.400000e-01 1 TOMM22 56993 broad.mit.edu 37 22 39079827 39079827 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr22:39079827C>T ENST00000216034.4 + 4 441 c.410C>T c.(409-411)tCa>tTa p.S137L RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA NM_020243.4 NP_064628.1 Q9NS69 TOM22_HUMAN translocase of outer mitochondrial membrane 22 homolog (yeast) 3 Melanoma(58;0.04) GCTCTACCCTCACTTCCTGGA 0.433000 0 SO:0001583 missense ENST00000216034.4 1 1 hg19 CCDS13975.1 . . . . . . . . . . C 9.388000 1.074761 0.202270 . . ENSG00000100216 ENST00000216034 . . . 5.520000 3.440000 0.393840 . 0.176473 0.50627 D 0.000106 T 0.26846 0.0657 N 0.11560 0.145 0.328140 D 0.501897 B 0.02656 0.0 B 0.04013 0.001 T 0.20773 -1.0265 9 0.30078 T 0.28 -0.006 10.598600 0.453540 0.0:0.8507:0.0:0.1493 . 137 Q9NS69 TOM22_HUMAN L 137 . ENSP00000216034:S137L S + 2 0 TOMM22 37409773 1.000000 0.71417 9.990000e-01 0.593770 0.993000 0.825480 7.034000 0.76511 0.704000 0.318690 0.563000 0.778840 TCA TCGA-IB-AAUQ-01A-22D-A40W-08 TOMM22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320842.1 1 0 1 30 215 0 51 1 9.999999e-01 46 150 0 51 2 0 0 0 0 0 2 1 1.000000 30 214 0 51 2 -2.966982 1 1 0 0 1 1 2 3 2.026564 0 0.250000 1.930000 0.253731 0.990000 0.680000 1.000000 1.000000 0.933870 0.990000 1 8.200000e-01 1 CFLAR 8837 broad.mit.edu 37 2 201994665 201994665 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:201994665G>A ENST00000309955.3 + 2 592 c.77G>A c.(76-78)cGg>cAg p.R26Q CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 13 TTTTTGTGCCGGGATGTTGCT 0.478000 Pancreas(16;548 657 22190 32864 42338) 0 SO:0001583 missense ENST00000309955.3 0 1 hg19 CCDS2337.1 . . . . . . . . . . G 15.180000 2.755828 0.493620 . . ENSG00000003402 ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277 T;T;T;T;T;T;T;T;T 0.48201 3.7;0.83;0.82;3.58;4.0;0.86;3.7;0.83;3.58 5.860000 4.050000 0.471720 DEATH-like (2);Death effector (3); 0.487974 0.22753 N 0.056053 T 0.56543 0.1992 L 0.60957 1.885 0.401490 D 0.976923 P;D;D;D;P;P;B 0.76494 0.956;0.998;0.998;0.999;0.744;0.777;0.449 P;P;P;D;B;B;B 0.65874 0.67;0.9;0.842;0.939;0.249;0.23;0.274 T 0.53690 -0.8403 10 0.27082 T 0.32 -12.9446 6.620700 0.228020 0.146:0.0:0.7082:0.1458 . 26;26;26;26;26;26;26 C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3 .;.;.;CFLAR_HUMAN;.;.;. Q 26 ENSP00000312455:R26Q;ENSP00000339335:R26Q;ENSP00000347757:R26Q;ENSP00000339326:R26Q;ENSP00000345807:R26Q;ENSP00000342809:R26Q;ENSP00000399420:R26Q;ENSP00000406775:R26Q;ENSP00000411535:R26Q ENSP00000312455:R26Q R + 2 0 CFLAR 201702910 1.000000 0.71417 9.180000e-01 0.363400 0.539000 0.349620 3.319000 0.51983 0.805000 0.341590 0.563000 0.778840 CGG TCGA-IB-AAUQ-01A-22D-A40W-08 CFLAR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256276.3 0 0 0 6 716 0 164 0 2.284951e-01 0 93 0 164 2 0 0 0 0 0 2 1 0.963999 6 709 0 163 2 -1.751256 0 1 0 0 1 1 2 3 2.020854 0 0.250000 1.930000 0.251870 0.060000 0.020000 0.150000 0.060000 0.086277 0.060000 0 4.000000e-02 1.100000e-01 BIRC6 57448 broad.mit.edu 37 2 32774524 32774524 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:32774524T>C ENST00000421745.2 + 65 13254 c.13120T>C c.(13120-13122)Tca>Cca p.S4374P NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 172 Acute lymphoblastic leukemia(172;0.155) CCCAGCCATGTCATCTTATCT 0.393000 Pancreas(94;175 1509 16028 18060 45422) 0 SO:0001583 missense ENST00000421745.2 1 1 hg19 CCDS33175.2 . . . . . . . . . . T 20.700000 4.026649 0.753900 . . ENSG00000115760 ENST00000421745 T 0.76316 -1.01 5.430000 5.430000 0.792020 . 0.000000 0.85682 D 0.000000 D 0.82360 0.5020 M 0.71036 2.16 0.807220 D 1.000000 P 0.47409 0.895 P 0.49528 0.614 D 0.85059 0.0933 10 0.87932 D 0 . 15.494800 0.756410 0.0:0.0:0.0:1.0 . 4374 Q9NR09 BIRC6_HUMAN P 4374 ENSP00000393596:S4374P ENSP00000393596:S4374P S + 1 0 BIRC6 32628028 1.000000 0.71417 1 0.803570 0.768000 0.435240 6.186000 0.72026 2.066000 0.617870 0.528000 0.532280 TCA TCGA-IB-AAUQ-01A-22D-A40W-08 BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318769.3 1 0 1 38 323 0 102 1 8.915874e-01 11 24 0 102 2 0 0 0 0 0 2 1 1.000000 38 315 0 99 2 -13.790630 1 1 0 0 1 1 2 3 2.020854 0 0.250000 1.930000 0.251870 0.840000 0.610000 1.000000 1.000000 0.846392 0.840000 0 7.200000e-01 9.900000e-01 CCDC80 151887 broad.mit.edu 37 3 112324405 112324405 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:112324405C>T ENST00000206423.3 - 8 3665 c.2712G>A c.(2710-2712)gcG>gcA p.A904A CCDC80_ENST00000439685.2_Silent_p.A904A NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 51 ACTGCTGAATCGCCATTTCCT 0.473000 0 SO:0001819 synonymous_variant ENST00000206423.3 1 1 hg19 CCDS2968.1 TCGA-IB-AAUQ-01A-22D-A40W-08 CCDC80-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354219.1 1 0 1 33 233 0 82 1 1 96 519 0 82 2 0 0 0 0 0 2 1 1.000000 33 228 0 81 2 -3.319091 1 1 0 0 1 0 1 1 2.013302 0 0.250000 1.930000 0.248120 0.980000 0.700000 1.000000 1.000000 0.936725 0.980000 1 8.300000e-01 1 KALRN 8997 broad.mit.edu 37 3 123953690 123953690 + Nonsense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:123953690C>T ENST00000240874.3 + 3 314 c.157C>T c.(157-159)Cga>Tga p.R53* KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R53* NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 83 TCGTGATAAGCGAGGCGGACC 0.507000 0 SO:0001587 stop_gained ENST00000240874.3 0 1 hg19 CCDS3027.1 . . . . . . . . . . c 39.000000 7.391663 0.982550 . . ENSG00000160145 ENST00000460856;ENST00000240874;ENST00000360013 . . . 5.490000 5.490000 0.811920 . 0.000000 0.64402 D 0.000003 . . . . . . 0.807220 D 1.000000 . . . . . . . . . . 0.02654 T 1 . 19.387800 0.945650 0.0:1.0:0.0:0.0 . . . . X 53 . ENSP00000240874:R53X R + 1 2 KALRN 125436380 1.000000 0.71417 1 0.803570 0.954000 0.612520 2.304000 0.43655 2.573000 0.868260 0.651000 0.884530 CGA TCGA-IB-AAUQ-01A-22D-A40W-08 KALRN-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000258843.4 0 0 0 9 61 0 22 0 0 0 0 22 2 1 1 154 998 1 1312 5 1 0.995256 9 61 0 22 2 -16.443380 1 1 0 0 1 0 1 1 2.013302 0 0.250000 1.930000 0.248120 0.990000 0.520000 1.000000 1.000000 0.907706 0.990000 1 7.400000e-01 1 OPA1 4976 broad.mit.edu 37 3 193374974 193374974 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:193374974G>C ENST00000392438.3 + 21 2353 c.2119G>C c.(2119-2121)Gaa>Caa p.E707Q OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E762Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q NM_015560.2 NP_056375.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) TGTTAAGGAAGAAAGTATTAA 0.383000 0 SO:0001583 missense ENST00000392438.3 1 1 hg19 CCDS43186.1 . . . . . . . . . . G 32.000000 5.192617 0.949600 . . ENSG00000198836 ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150 D;D;D;D;D;D 0.95622 -3.34;-3.35;-3.31;-3.33;-3.37;-3.76 5.780000 5.780000 0.914870 . 0.204266 0.53938 D 0.000049 D 0.97470 0.9172 M 0.69823 2.125 0.807220 D 1.000000 P;D;D;D;P;P;D;D 0.76494 0.943;0.999;0.967;0.967;0.95;0.943;0.997;0.969 P;D;P;P;P;P;D;P 0.75484 0.695;0.915;0.81;0.81;0.638;0.695;0.986;0.759 D 0.97412 1.0003 10 0.54805 T 0.06 -23.6123 18.996000 0.928130 0.0:0.0:1.0:0.0 . 671;707;689;708;725;744;726;762 E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5 .;OPA1_HUMAN;.;.;.;.;.;. Q 744;707;762;726;725;708 ENSP00000354681:E744Q;ENSP00000376233:E707Q;ENSP00000355324:E762Q;ENSP00000355311:E726Q;ENSP00000354429:E725Q;ENSP00000354781:E708Q ENSP00000354781:E708Q E + 1 0 OPA1 194857668 1.000000 0.71417 1 0.803570 0.997000 0.918780 9.751000 0.98889 2.722000 0.931590 0.655000 0.942530 GAA TCGA-IB-AAUQ-01A-22D-A40W-08 OPA1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000313812.2 1 0 1 61 478 0 133 1 9.359634e-01 9 29 0 133 2 0 0 0 0 0 2 1 1.000000 59 471 0 133 2 -19.984530 1 1 0 0 1 0 1 1 2.013302 0 0.250000 1.930000 0.248120 0.890000 0.700000 1.000000 1.000000 0.896238 0.890000 1 7.900000e-01 1 TOP2B 7155 broad.mit.edu 37 3 25641006 25641006 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:25641006C>A ENST00000264331.4 - 35 4629 c.4630G>T c.(4630-4632)Gca>Tca p.A1544S TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1539S NM_001068.2 NP_001059.2 Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 36 Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773) CTTTTCTTTGCCCCTCGGCCT 0.383000 0 SO:0001583 missense ENST00000264331.4 1 1 hg19 . . . . . . . . . . C 18.530000 3.644022 0.672440 . . ENSG00000077097 ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199 T;T;T;T 0.47177 0.85;0.88;0.89;0.85 5.980000 5.980000 0.971650 DTHCT (1); 0.102593 0.64402 D 0.000002 T 0.35098 0.0920 N 0.08118 0 0.493890 D 0.999786 P;P 0.43231 0.801;0.763 P;B 0.46510 0.519;0.385 T 0.11941 -1.0567 10 0.05436 T 0.98 -16.4796 20.456100 0.991450 0.0:1.0:0.0:0.0 . 1544;1539 Q02880;Q02880-2 TOP2B_HUMAN;. S 396;1539;1544;396 ENSP00000446023:A396S;ENSP00000396704:A1539S;ENSP00000264331:A1544S;ENSP00000437352:A396S ENSP00000264331:A1544S A - 1 0 TOP2B 25616010 1.000000 0.71417 1 0.803570 0.994000 0.842990 3.563000 0.53784 2.847000 0.979880 0.591000 0.815410 GCA TCGA-IB-AAUQ-01A-22D-A40W-08 TOP2B-201 KNOWN basic|appris_candidate_longest protein_coding protein_coding 1 0 1 20 88 0 24 1 1 54 191 0 24 2 0 0 0 0 0 2 1 0.999997 20 86 0 24 2 -13.922530 1 1 0 0 1 0 1 1 2.013302 0 0.250000 1.930000 0.248120 0.990000 0.940000 1.000000 1.000000 0.996565 0.990000 1 9.900000e-01 1 LRIG1 26018 broad.mit.edu 37 3 66434562 66434562 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:66434562C>T ENST00000273261.3 - 14 2448 c.1924G>A c.(1924-1926)Gct>Act p.A642T SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A666T NM_015541.2 NP_056356.2 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 42 Lung NSC(201;0.0101) TCACGGGCAGCGGGGAAATCC 0.562000 0 SO:0001583 missense ENST00000273261.3 1 1 hg19 CCDS33783.1 . . . . . . . . . . C 23.200000 4.385298 0.827920 . . ENSG00000144749 ENST00000273261;ENST00000383703;ENST00000383702 T;T 0.66815 -0.23;-0.13 6.170000 6.170000 0.997090 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.79034 0.4378 L 0.43646 1.37 0.807220 D 1.000000 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.78450 -0.2199 10 0.87932 D 0 . 20.879400 0.998670 0.0:1.0:0.0:0.0 . 666;642;642 Q96JA1-2;Q5XWD3;Q96JA1 .;.;LRIG1_HUMAN T 642;666;545 ENSP00000273261:A642T;ENSP00000373208:A666T ENSP00000273261:A642T A - 1 0 LRIG1 66517252 1.000000 0.71417 9.500000e-02 0.209760 0.015000 0.088740 7.818000 0.86416 2.941000 0.997820 0.655000 0.942530 GCT TCGA-IB-AAUQ-01A-22D-A40W-08 LRIG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351930.1 0 0 0 21 432 0 122 0 6.557084e-01 0 47 0 122 2 0 0 0 0 0 2 1 0.999997 21 425 0 121 2 -4.116877 1 1 0 0 1 0 1 1 2.013302 0 0.250000 1.930000 0.248120 0.370000 0.230000 0.540000 0.360000 0.383271 0.370000 0 2.900000e-01 4.600000e-01 EVC 2121 broad.mit.edu 37 4 5755572 5755572 + Missense_Mutation SNP C C T rs146028983 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:5755572C>T ENST00000264956.6 + 10 1560 c.1376C>T c.(1375-1377)aCg>aTg p.T459M EVC_ENST00000382674.2_Missense_Mutation_p.T459M|EVC_ENST00000509451.1_Missense_Mutation_p.T459M NM_153717.2 NP_714928.1 P57679 EVC_HUMAN Ellis van Creveld syndrome 28 Myeloproliferative disorder(84;0.117) GTGGAGGGAACGGCAAAACTC 0.567000 0 SO:0001583 missense ENST00000264956.6 1 1 hg19 CCDS3383.1 . . . . . . . . . . C 13.870000 2.367170 0.419020 0.0 1.16E-4 ENSG00000072840 ENST00000264956;ENST00000382674;ENST00000509451 T;T;T 0.50813 0.73;0.73;0.79 5.040000 -4.460000 0.035360 . 1.022650 0.07791 N 0.955013 T 0.24967 0.0606 N 0.12182 0.205 0.093100 N 0.999999 B 0.18310 0.027 B 0.11329 0.006 T 0.19418 -1.0306 10 0.36615 T 0.2 . 7.472300 0.273550 0.1314:0.1965:0.0:0.6721 . 459 P57679 EVC_HUMAN M 459 ENSP00000264956:T459M;ENSP00000372120:T459M;ENSP00000426774:T459M ENSP00000264956:T459M T + 2 0 EVC 5806473 0.000000 0.05858 0 0.037020 0.620000 0.375860 -2.519000 0.00952 -0.827000 0.042780 0.561000 0.740990 ACG TCGA-IB-AAUQ-01A-22D-A40W-08 EVC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206859.1 1 0 0 52 266 0 111 0 5.092002e-01 0 10 0 111 2 0 0 0 0 0 2 1 1.000000 51 264 0 111 2 -20.000000 1 1 121412 4 38 1 0 1 1 1.770512 1 0.250000 1.930000 0.142857 0.940000 0.780000 1.000000 0.990000 0.935229 0.940000 1 8.700000e-01 9.900000e-01 MYOT 9499 broad.mit.edu 37 5 137217667 137217667 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:137217667G>A ENST00000239926.4 + 6 1063 c.689G>A c.(688-690)aGa>aAa p.R230K MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|RP11-381K20.2_ENST00000508281.2_RNA NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGTAGAAGTAGATCAACCTCA 0.338000 0 SO:0001583 missense ENST00000239926.4 1 1 hg19 CCDS4194.1 . . . . . . . . . . G 17.330000 3.362623 0.614030 . . ENSG00000120729 ENST00000239926;ENST00000421631;ENST00000515645 T;T;T 0.68479 -0.31;-0.24;-0.33 5.610000 5.610000 0.854770 . 0.138225 0.50627 D 0.000114 T 0.55673 0.1935 N 0.24115 0.695 0.431830 D 0.995004 B 0.26483 0.15 B 0.19946 0.027 T 0.50668 -0.8801 10 0.36615 T 0.2 . 19.628800 0.956910 0.0:0.0:1.0:0.0 . 230 Q9UBF9 MYOTI_HUMAN K 230;46;115 ENSP00000239926:R230K;ENSP00000391185:R46K;ENSP00000426281:R115K ENSP00000239926:R230K R + 2 0 MYOT 137245566 1.000000 0.71417 1 0.803570 0.973000 0.671790 7.845000 0.86875 2.644000 0.897100 0.591000 0.815410 AGA TCGA-IB-AAUQ-01A-22D-A40W-08 MYOT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251219.2 1 0 1 46 237 0 77 0 0 0 0 77 2 0 0 0 0 0 2 1 1.000000 46 232 0 76 2 -20.000000 1 1 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.990000 0.980000 1.000000 1.000000 0.998264 0.990000 1 9.900000e-01 1 DNAH5 1767 broad.mit.edu 37 5 13766211 13766211 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:13766211G>A ENST00000265104.4 - 59 10079 c.9975C>T c.(9973-9975)tgC>tgT p.C3325C DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 378 Lung NSC(4;0.00476) GCAGCAGTACGCAATCCATGA 0.517000 Kartagener syndrome 0 SO:0001819 synonymous_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome ENST00000265104.4 1 1 hg19 CCDS3882.1 TCGA-IB-AAUQ-01A-22D-A40W-08 DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 1 0 1 62 385 0 106 0 0 0 0 106 2 0 0 0 0 0 2 1 1.000000 61 380 0 104 2 -3.222072 1 1 121412 2 36 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.990000 0.860000 1.000000 1.000000 0.988134 0.990000 1 9.800000e-01 1 PCDHA6 56142 broad.mit.edu 37 5 140209287 140209287 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140209287G>A ENST00000529310.1 + 1 1725 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCGG 0.682000 0 SO:0001819 synonymous_variant ENST00000529310.1 1 1 hg19 CCDS47281.1 TCGA-IB-AAUQ-01A-22D-A40W-08 PCDHA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372829.3 1 0 1 86 572 0 202 0 0 0 0 202 2 0 0 0 0 0 2 1 1.000000 83 531 0 203 2 -20.000000 1 1 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.990000 0.850000 1.000000 1.000000 0.979855 0.990000 1 9.400000e-01 1 PCDHA11 56138 broad.mit.edu 37 5 140248986 140248986 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140248986G>A ENST00000398640.2 + 1 298 c.298G>A c.(298-300)Gcg>Acg p.A100T PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCAGAGCGCGGAGTGCAG 0.562000 0 SO:0001583 missense ENST00000398640.2 1 1 hg19 CCDS47284.1 . . . . . . . . . . G 8.885000 0.952502 0.184310 . . ENSG00000249158 ENST00000398640 T 0.38560 1.13 5.590000 -3.030000 0.054290 Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1); . . . . T 0.28200 0.0696 L 0.35644 1.08 0.093100 N 1.000000 B;B 0.33212 0.055;0.402 B;B 0.24541 0.009;0.054 T 0.07908 -1.0748 9 0.39692 T 0.17 . 12.585800 0.564160 0.0:0.4551:0.3038:0.2411 . 100;100 Q9Y5I1-2;Q9Y5I1 .;PCDAB_HUMAN T 100 ENSP00000381636:A100T ENSP00000381636:A100T A + 1 0 PCDHA11 140229170 0.000000 0.05858 7.200000e-02 0.201360 0.403000 0.308410 -4.056000 0.00304 -0.519000 0.064440 -0.181000 0.130520 GCG TCGA-IB-AAUQ-01A-22D-A40W-08 PCDHA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372885.2 1 0 1 129 1024 0 316 0 0 0 1 0 316 2 0 0 0 0 0 2 1 1.000000 123 969 0 313 2 -20.000000 1 1 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.890000 0.750000 1.000000 1.000000 0.897824 0.890000 1 8.200000e-01 9.800000e-01 PCDHB6 56130 broad.mit.edu 37 5 140532201 140532201 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140532201G>A ENST00000231136.1 + 1 2363 c.2363G>A c.(2362-2364)cGg>cAg p.R788Q PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCACCTCTCGGAATAGCTTC 0.418000 0 SO:0001583 missense ENST00000231136.1 1 1 hg19 CCDS4248.1 . . . . . . . . . . G 10.680000 1.417419 0.255520 . . ENSG00000113211 ENST00000543635;ENST00000231136 T;T 0.13196 2.61;2.61 4.710000 -1.740000 0.080560 . . . . . T 0.10035 0.0246 L 0.39633 1.23 0.093100 N 1.000000 B 0.22983 0.078 B 0.19148 0.024 T 0.30475 -0.9977 9 0.44086 T 0.13 . 6.495600 0.221400 0.2801:0.3536:0.3662:0.0 . 788 Q9Y5E3 PCDB6_HUMAN Q 652;788 ENSP00000438466:R652Q;ENSP00000231136:R788Q ENSP00000231136:R788Q R + 2 0 PCDHB6 140512385 0.000000 0.05858 1.000000e-03 0.086480 0.007000 0.059690 -0.899000 0.04101 -0.333000 0.084760 -1.660000 0.007510 CGG TCGA-IB-AAUQ-01A-22D-A40W-08 PCDHB6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251818.2 1 0 0 21 228 0 76 0 0 0 1 0 76 2 0 0 0 0 0 2 1 0.999997 21 219 0 73 2 -7.763743 1 1 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.680000 0.430000 1.000000 0.670000 0.696042 0.680000 0 5.500000e-01 8.400000e-01 PCDHGA4 56111 broad.mit.edu 37 5 140734960 140734960 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140734960C>T ENST00000571252.1 + 1 193 c.193C>T c.(193-195)Cgc>Tgc p.R65C PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTCCGCATCGTCTC 0.647000 0 SO:0001583 missense ENST00000571252.1 1 1 hg19 CCDS58979.1 TCGA-IB-AAUQ-01A-22D-A40W-08 PCDHGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437959.1 0 0 0 19 476 1 159 0 0 0 1 159 2 0 0 0 0 0 2 1 0.916688 18 464 1 156 12 -3.118461 1 1 121370 5 41 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.310000 0.190000 0.490000 0.310000 0.327456 0.310000 0 2.400000e-01 3.900000e-01 FOXI1 2299 broad.mit.edu 37 5 169533031 169533031 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:169533031G>C ENST00000306268.6 + 1 131 c.70G>C c.(70-72)Gag>Cag p.E24Q FOXI1_ENST00000449804.2_Missense_Mutation_p.E24Q Q12951 FOXI1_HUMAN forkhead box I1 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATCGGCCAGGAGCCCCCCGA 0.701000 Pendred syndrome 0 SO:0001583 missense Familial Cancer Database Goiter-Deafness syndrome ENST00000306268.6 1 1 hg19 CCDS4372.1 . . . . . . . . . . G 23.100000 4.375475 0.826820 . . ENSG00000168269 ENST00000306268;ENST00000449804 D;D 0.95137 -3.57;-3.62 4.500000 4.500000 0.549880 . 0.000000 0.85682 D 0.000000 D 0.96827 0.8964 M 0.73962 2.25 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.71870 0.975;0.96 D 0.97246 0.9894 10 0.56958 D 0.05 . 17.215700 0.869430 0.0:0.0:1.0:0.0 . 24;24 Q12951-2;Q12951 .;FOXI1_HUMAN Q 24 ENSP00000304286:E24Q;ENSP00000415483:E24Q ENSP00000304286:E24Q E + 1 0 FOXI1 169465609 1.000000 0.71417 1 0.803570 0.922000 0.554780 9.655000 0.98512 2.056000 0.612490 0.491000 0.489740 GAG TCGA-IB-AAUQ-01A-22D-A40W-08 FOXI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252827.2 1 0 0 10 126 0 33 0 0 0 0 33 2 0 0 0 0 0 2 1 0.996646 10 121 0 32 2 -14.567740 1 0 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.600000 0.310000 1.000000 1.000000 0.626226 0.600000 0 4.400000e-01 8.100000e-01 SPEF2 79925 broad.mit.edu 37 5 35771762 35771762 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:35771762C>A ENST00000356031.3 + 27 4007 c.3853C>A c.(3853-3855)Cca>Aca p.P1285T SPEF2_ENST00000440995.2_Missense_Mutation_p.P1280T|CTD-2113L7.1_ENST00000510433.1_RNA NM_024867.3 NP_079143.3 Q9C093 SPEF2_HUMAN sperm flagellar 2 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAAAACCAGCCAGCAGACCC 0.383000 0 SO:0001583 missense ENST00000356031.3 1 1 hg19 CCDS43309.1 . . . . . . . . . . C 9.684000 1.150203 0.213710 . . ENSG00000152582 ENST00000356031;ENST00000440995 T;T 0.05925 3.4;3.37 5.680000 0.750000 0.183870 . 0.878841 0.10350 N 0.685256 T 0.06781 0.0173 L 0.50333 1.59 0.093100 N 1.000000 B;B 0.16396 0.017;0.005 B;B 0.12156 0.007;0.002 T 0.38802 -0.9644 10 0.33141 T 0.24 . 6.862600 0.240760 0.2918:0.5705:0.0:0.1377 . 1280;1285 Q9C093-2;Q9C093 .;SPEF2_HUMAN T 1285;1280 ENSP00000348314:P1285T;ENSP00000412125:P1280T ENSP00000348314:P1285T P + 1 0 SPEF2 35807519 0.000000 0.05858 2.500000e-02 0.171560 0.998000 0.957120 0.441000 0.21611 -0.073000 0.128420 0.591000 0.815410 CCA TCGA-IB-AAUQ-01A-22D-A40W-08 SPEF2-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367199.1 1 0 1 20 135 0 67 0 0 0 1 0 67 2 0 0 0 0 0 2 1 0.999996 20 133 0 66 2 -11.162690 1 1 0 0 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.990000 0.660000 1.000000 1.000000 0.940732 0.990000 1 8.300000e-01 1 LIFR 3977 broad.mit.edu 37 5 38493808 38493808 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:38493808G>A ENST00000263409.4 - 14 2127 c.1965C>T c.(1963-1965)tgC>tgT p.C655C LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 78 all_lung(31;0.00021) TGACGTAGTCGCAAGTCATGT 0.443000 T PLAG1 salivary adenoma Melanoma(13;4 730 6426 9861 34751) Dom yes 5 5p13-p12 3977 leukemia inhibitory factor receptor E 0 SO:0001819 synonymous_variant ENST00000263409.4 1 1 hg19 CCDS3927.1 TCGA-IB-AAUQ-01A-22D-A40W-08 LIFR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253823.1 1 0 1 44 401 0 141 0 1.033677e-02 0 2 0 141 2 0 0 0 0 0 2 1 1.000000 43 396 0 140 2 -3.142702 1 1 121412 5 40 1 1 2 3 2.022414 0 0.250000 1.930000 0.251870 0.790000 0.580000 1.000000 1.000000 0.801398 0.790000 0 6.800000e-01 9.200000e-01 ARHGAP18 93663 broad.mit.edu 37 6 129920398 129920398 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:129920398C>T ENST00000368149.2 - 12 1764 c.1676G>A c.(1675-1677)cGa>cAa p.R559Q ARHGAP18_ENST00000463225.1_5'Flank NM_033515.2 NP_277050.2 Rho GTPase activating protein 18 18 ATATTTTTCTCGGTCATAAGC 0.294000 0 SO:0001583 missense ENST00000368149.2 1 1 hg19 CCDS34535.1 . . . . . . . . . . C 22.200000 4.259937 0.802460 . . ENSG00000146376 ENST00000368149;ENST00000275189 . . . 5.370000 5.370000 0.771650 . 0.062436 0.64402 D 0.000008 T 0.63861 0.2547 M 0.79258 2.445 0.445470 D 0.997506 P;D 0.61080 0.722;0.989 B;P 0.47376 0.117;0.545 T 0.68096 -0.5499 8 . . . . 19.147400 0.934730 0.0:1.0:0.0:0.0 . 559;559 A9UK01;Q8N392 .;RHG18_HUMAN Q 514;559 . . R - 2 0 ARHGAP18 129962091 1.000000 0.71417 1 0.803570 0.995000 0.863560 5.248000 0.65421 2.511000 0.846710 0.650000 0.862430 CGA TCGA-IB-AAUQ-01A-22D-A40W-08 ARHGAP18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042185.2 1 0 1 16 197 0 70 1 9.452613e-01 8 55 0 70 2 0 0 0 0 0 2 1 0.999942 16 196 0 69 2 -3.318731 1 1 0 0 1 0 1 1 2.013119 0 0.250000 1.930000 0.248120 0.600000 0.360000 0.910000 0.600000 0.621371 0.600000 0 4.700000e-01 7.600000e-01 GLO1 2739 broad.mit.edu 37 6 38650584 38650584 + Splice_Site SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:38650584C>T ENST00000373365.4 - 4 462 c.376G>A c.(376-378)Ggt>Agt p.G126S GLO1_ENST00000470973.1_5'UTR NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 6 Glutathione(DB00143)|Indomethacin(DB00328) GCAAACTTACCGAATCCTCGA 0.338000 0 SO:0001630 splice_region_variant ENST00000373365.4 0 1 hg19 CCDS4837.1 . . . . . . . . . . C 25.100000 4.606204 0.871570 . . ENSG00000124767 ENST00000373365 T 0.69806 -0.43 5.710000 5.710000 0.891250 Glyoxalase/fosfomycin resistance/dioxygenase (1);Glyoxalase I, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.85754 0.5770 M 0.93375 3.41 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.88482 0.3069 9 . . . -26.2595 19.478100 0.949960 0.0:1.0:0.0:0.0 . 126 Q04760 LGUL_HUMAN S 126 ENSP00000362463:G126S . G - 1 0 GLO1 38758562 1.000000 0.71417 1 0.803570 0.320000 0.282490 6.947000 0.75959 2.709000 0.925740 0.655000 0.942530 GGT TCGA-IB-AAUQ-01A-22D-A40W-08 GLO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040438.2 0 0 0 8 249 0 72 0 8.555623e-01 1 110 0 72 2 0 0 0 0 0 2 1 0.988819 8 244 0 71 2 -2.729060 1 1 0 0 1 0 1 1 2.015441 0 0.250000 1.930000 0.248120 0.250000 0.120000 0.460000 0.250000 0.274041 0.250000 0 1.800000e-01 3.600000e-01 CNTNAP2 26047 broad.mit.edu 37 7 147869372 147869372 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:147869372C>T ENST00000361727.3 + 18 3328 c.2812C>T c.(2812-2814)Cgc>Tgc p.R938C CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGGCTGCATCCGCTCCTTGAG 0.542000 HNSCC(39;0.1) 0 SO:0001583 missense ENST00000361727.3 1 1 hg19 CCDS5889.1 . . . . . . . . . . C 24.500000 4.536423 0.858120 . . ENSG00000174469 ENST00000361727 T 0.81163 -1.46 5.410000 5.410000 0.785170 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.85682 D 0.000000 D 0.93890 0.8045 H 0.97962 4.115 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.95993 0.8987 10 0.87932 D 0 . 17.781700 0.885260 0.0:1.0:0.0:0.0 . 938 Q9UHC6 CNTP2_HUMAN C 938 ENSP00000354778:R938C ENSP00000354778:R938C R + 1 0 CNTNAP2 147500305 1.000000 0.71417 1 0.803570 0.996000 0.888480 4.729000 0.62008 2.552000 0.860800 0.655000 0.942530 CGC TCGA-IB-AAUQ-01A-22D-A40W-08 CNTNAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327668.1 1 0 1 57 236 0 58 0 0 0 0 58 2 0 0 0 0 0 2 1 1.000000 57 233 0 57 2 -2.910009 1 1 121408 1 32 1 1 2 3 2.245585 1 0.250000 1.930000 0.331849 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 KCNH2 3757 broad.mit.edu 37 7 150656796 150656796 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:150656796C>T ENST00000262186.5 - 3 737 c.336G>A c.(334-336)gtG>gtA p.V112V KCNH2_ENST00000392968.2_Silent_p.V16V|KCNH2_ENST00000430723.3_Silent_p.V112V NM_000238.3 NP_000229.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661) TCACGGGCACCACATCCACCA 0.582000 GBM(137;110 1844 13671 20123 45161) 0 SO:0001819 synonymous_variant ENST00000262186.5 1 1 hg19 CCDS5910.1 TCGA-IB-AAUQ-01A-22D-A40W-08 KCNH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350741.2 1 0 1 46 203 0 59 0 2.378216e-01 0 5 0 59 2 0 0 0 0 0 2 1 1.000000 45 197 0 59 2 -20.000000 1 1 0 0 1 1 2 3 2.245585 1 0.250000 1.930000 0.331849 0.990000 0.990000 1.000000 1.000000 0.999988 0.990000 1 9.900000e-01 1 GLI3 2737 broad.mit.edu 37 7 42017203 42017203 + Missense_Mutation SNP T T G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:42017203T>G ENST00000395925.3 - 12 1850 c.1766A>C c.(1765-1767)aAt>aCt p.N589T GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 112 ATCAGAGGCATTTGAGAAAGC 0.468000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly OREG0018015 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense Familial Cancer Database ; ENST00000395925.3 0 1 hg19 CCDS5465.1 . . . . . . . . . . T 21.300000 4.124654 0.774360 . . ENSG00000106571 ENST00000395925 T 0.16073 2.37 5.820000 5.820000 0.927950 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.27027 0.0662 N 0.14661 0.345 0.807220 D 1.000000 D 0.89917 1.0 D 0.77557 0.99 T 0.15896 -1.0421 10 0.87932 D 0 . 16.191700 0.819920 0.0:0.0:0.0:1.0 . 589 P10071 GLI3_HUMAN T 589 ENSP00000379258:N589T ENSP00000379258:N589T N - 2 0 GLI3 41983728 1.000000 0.71417 4.530000e-01 0.270070 0.623000 0.376880 7.991000 0.88244 2.216000 0.718230 0.533000 0.621200 AAT TCGA-IB-AAUQ-01A-22D-A40W-08 GLI3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250806.3 0 0 0 6 182 0 65 0 1.543125e-03 0 2 0 65 2 0 0 0 0 0 2 1 0.964557 6 180 0 65 2 -3.690352 1 1 0 0 1 2 3 5 2.273458 1 0.250000 1.930000 0.334812 0.350000 0.130000 1.000000 0.290000 0.474227 0.350000 0 2.200000e-01 1 DTX2 113878 broad.mit.edu 37 7 76112193 76112193 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:76112193C>T ENST00000324432.5 + 5 1147 c.637C>T c.(637-639)Cgc>Tgc p.R213C DTX2_ENST00000430490.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex 2, E3 ubiquitin ligase 27 CGTGTCAGGCCGCTACCGCCA 0.662000 0 SO:0001583 missense ENST00000324432.5 1 1 hg19 CCDS5587.1 . . . . . . . . . . . 28.400000 4.918915 0.922490 . . ENSG00000091073 ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820 T;T;T;T;T;T 0.14022 2.58;2.54;2.59;2.58;2.58;2.54 5.180000 5.180000 0.714440 . 0.116998 0.64402 D 0.000014 T 0.37625 0.1010 M 0.65498 2.005 0.807220 D 1.000000 D;D;D 0.89917 0.999;1.0;1.0 P;D;P 0.87578 0.899;0.998;0.891 T 0.09185 -1.0686 10 0.59425 D 0.04 -21.9242 17.673700 0.882240 0.0:1.0:0.0:0.0 . 122;213;213 F5GX89;Q86UW9-2;Q86UW9 .;.;DTX2_HUMAN C 213;213;122;122;213;213;213 ENSP00000322885:R213C;ENSP00000305242:R213C;ENSP00000397648:R122C;ENSP00000390218:R213C;ENSP00000411986:R213C;ENSP00000392545:R213C ENSP00000305242:R213C R + 1 0 AC005522.1 75950129 1.000000 0.71417 1 0.803570 0.994000 0.842990 4.638000 0.61353 2.434000 0.824470 0.561000 0.740990 CGC TCGA-IB-AAUQ-01A-22D-A40W-08 DTX2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253104.2 1 0 0 30 660 0 158 0 4.922774e-01 1 36 0 158 2 0 0 0 0 0 2 1 1.000000 29 640 0 154 2 -3.005467 1 1 121412 3 38 1 1 2 3 2.256858 1 0.250000 1.930000 0.330357 0.390000 0.260000 1.000000 0.390000 0.417475 0.390000 0 3.200000e-01 4.800000e-01 PCLO 27445 broad.mit.edu 37 7 82791717 82791717 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:82791717C>T ENST00000333891.9 - 1 529 c.192G>A c.(190-192)caG>caA p.Q64Q PCLO_ENST00000423517.2_Silent_p.Q64Q NM_033026.5 NP_149015.2 piccolo presynaptic cytomatrix protein 259 TGGGCAGCCCCTGCGCCCTTG 0.632000 0 SO:0001819 synonymous_variant ENST00000333891.9 0 1 hg19 CCDS47630.1 TCGA-IB-AAUQ-01A-22D-A40W-08 PCLO-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337368.5 1 0 0 12 51 0 11 0 0 0 1 0 11 2 0 0 0 0 0 2 1 0.999430 12 51 0 11 2 -19.998680 1 1 0 0 1 1 2 3 2.256858 1 0.250000 1.930000 0.330357 0.990000 0.980000 1.000000 1.000000 0.996836 0.990000 1 9.900000e-01 1 PYCRL 65263 broad.mit.edu 37 8 144688047 144688047 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:144688047C>T ENST00000220966.6 - 6 713 c.684G>A c.(682-684)acG>acA p.T228T PYCRL_ENST00000377579.3_Silent_p.T79T|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) L-Proline(DB00172) GCATCTTGGCCGTCCCCTGAG 0.687000 0 SO:0001819 synonymous_variant ENST00000220966.6 1 1 hg19 CCDS6407.2 TCGA-IB-AAUQ-01A-22D-A40W-08 PYCRL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347081.2 1 0 1 30 211 0 52 1 6.481805e-01 5 12 0 52 2 0 0 0 0 0 2 1 1.000000 30 205 0 51 2 -2.807457 1 1 0 0 1 1 2 3 2.021269 0 0.250000 1.930000 0.251870 0.990000 0.690000 1.000000 1.000000 0.938621 0.990000 1 8.300000e-01 1 CSPP1 79848 broad.mit.edu 37 8 67998296 67998296 + Missense_Mutation SNP A A T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:67998296A>T ENST00000262210.5 + 4 393 c.362A>T c.(361-363)cAt>cTt p.H121L COPS5_ENST00000519963.1_5'Flank|CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CGGAAGAAACATAAATTAAAA 0.313000 0 SO:0001583 missense ENST00000262210.5 1 1 hg19 CCDS43744.1 . . . . . . . . . . A 12.040000 1.818020 0.321450 . . ENSG00000104218 ENST00000521919;ENST00000262210;ENST00000389042 T;T 0.64618 -0.11;1.4 5.600000 4.450000 0.539870 . 0.267871 0.17979 U 0.155585 T 0.46889 0.1416 L 0.33485 1.01 0.807220 D 1.000000 B;B;B 0.26258 0.019;0.145;0.145 B;B;B 0.22753 0.007;0.041;0.041 T 0.48103 -0.9064 10 0.46703 T 0.11 -18.2211 6.276100 0.209810 0.7839:0.0:0.0742:0.1419 . 121;121;121 Q1MSJ5-1;Q1MSJ5;F8W7C3 .;CSPP1_HUMAN;. L 85;121;121 ENSP00000429546:H85L;ENSP00000262210:H121L ENSP00000262210:H121L H + 2 0 CSPP1 68160850 1.000000 0.71417 1 0.803570 0.633000 0.380330 3.322000 0.52007 2.127000 0.655070 0.477000 0.441520 CAT TCGA-IB-AAUQ-01A-22D-A40W-08 CSPP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000379254.1 1 0 1 74 450 0 188 0 0 0 1 0 188 2 0 0 0 0 0 2 1 1.000000 74 438 0 187 2 -20.000000 1 1 0 0 1 0 1 1 1.764921 1 0.250000 1.930000 0.142857 0.920000 0.760000 1.000000 0.980000 0.914777 0.920000 1 8.400000e-01 9.800000e-01 KCNB2 9312 broad.mit.edu 37 8 73848876 73848876 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:73848876G>A ENST00000523207.1 + 3 1874 c.1286G>A c.(1285-1287)cGc>cAc p.R429H 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) GAGCAGAAACGCCAAGAGAAA 0.443000 0 SO:0001583 missense ENST00000523207.1 1 1 hg19 CCDS6209.1 . . . . . . . . . . G 23.300000 4.405528 0.832300 . . ENSG00000182674 ENST00000523207 D 0.97553 -4.43 5.610000 5.610000 0.854770 . 0.000000 0.46442 D 0.000294 D 0.98264 0.9425 M 0.72894 2.215 0.807220 D 1.000000 D 0.89917 1.0 D 0.73708 0.981 D 0.99174 1.0865 10 0.87932 D 0 . 19.625400 0.956760 0.0:0.0:1.0:0.0 . 429 Q92953 KCNB2_HUMAN H 429 ENSP00000430846:R429H ENSP00000430846:R429H R + 2 0 KCNB2 74011430 1.000000 0.71417 1 0.803570 0.996000 0.888480 9.869000 0.99810 2.633000 0.892460 0.563000 0.778840 CGC TCGA-IB-AAUQ-01A-22D-A40W-08 KCNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378998.1 1 0 1 40 264 0 86 0 0 0 1 0 86 2 0 0 0 0 0 2 1 1.000000 39 261 0 86 2 -3.319264 1 1 0 0 1 0 1 1 1.764921 1 0.250000 1.930000 0.142857 0.860000 0.650000 0.990000 0.900000 0.860287 0.860000 1 7.600000e-01 9.600000e-01 PAPPA 5069 broad.mit.edu 37 9 119106961 119106961 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:119106961C>T ENST00000328252.3 + 14 4120 c.3751C>T c.(3751-3753)Cgg>Tgg p.R1251W PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 98 GCTCCAGATACGGCGGGATGA 0.577000 0 SO:0001583 missense ENST00000328252.3 1 1 hg19 CCDS6813.1 . . . . . . . . . . C 20.300000 3.965637 0.741310 . . ENSG00000182752 ENST00000328252;ENST00000534838 T;T 0.77098 -1.07;-1.07 5.360000 5.360000 0.768440 Complement control module (2);Sushi/SCR/CCP (2); 0.387664 0.31554 N 0.007450 T 0.64560 0.2609 N 0.14661 0.345 0.364880 D 0.868287 P;D 0.53151 0.927;0.958 B;B 0.39152 0.292;0.255 T 0.73639 -0.3919 10 0.46703 T 0.11 -8.643 19.447200 0.948520 0.0:1.0:0.0:0.0 . 289;1251 F5GZ19;Q13219 .;PAPP1_HUMAN W 1251;289 ENSP00000330658:R1251W;ENSP00000441461:R289W ENSP00000330658:R1251W R + 1 2 PAPPA 118146782 1.000000 0.71417 1 0.803570 0.953000 0.610140 6.982000 0.76173 2.669000 0.908350 0.655000 0.942530 CGG TCGA-IB-AAUQ-01A-22D-A40W-08 PAPPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055546.1 1 0 1 19 170 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.999982 19 152 0 58 2 -20.000000 1 1 121412 1 27 1 0 1 1 2.012202 0 0.250000 1.930000 0.248120 0.800000 0.500000 1.000000 1.000000 0.806146 0.800000 0 6.400000e-01 9.900000e-01 ODF2 4957 broad.mit.edu 37 9 131246280 131246280 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:131246280G>A ENST00000434106.3 + 11 1414 c.1051G>A c.(1051-1053)Gca>Aca p.A351T ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 p.A327T(1)|p.A351T(1)|p.A395T(1) 37 GCATTTGCAGGCACAGCTTCG 0.532000 3 Substitution - Missense(3) SO:0001583 missense ENST00000434106.3 0 1 hg19 CCDS56588.1 . . . . . . . . . . G 13.530000 2.263551 0.399950 . . ENSG00000136811 ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791 T;T;T;T;T;T;T;T 0.41400 1.0;1.0;1.0;1.0;1.91;1.0;1.0;1.0 5.800000 4.720000 0.597630 . 0.339216 0.32287 N 0.006313 T 0.24236 0.0587 N 0.12182 0.205 0.807220 D 1.000000 B;B;B;B;B;B;B;B;B;B 0.11235 0.001;0.001;0.002;0.001;0.004;0.001;0.001;0.001;0.001;0.001 B;B;B;B;B;B;B;B;B;B 0.09377 0.001;0.004;0.003;0.003;0.004;0.004;0.004;0.002;0.004;0.004 T 0.06917 -1.0800 10 0.12430 T 0.62 -13.1102 14.489600 0.676420 0.084:0.0:0.916:0.0 . 332;346;270;285;351;395;346;332;351;327 Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3 .;.;.;.;.;.;.;.;ODFP2_HUMAN;. T 351;395;346;351;327;270;332;332 ENSP00000377166:A351T;ENSP00000361901:A395T;ENSP00000342581:A346T;ENSP00000361882:A351T;ENSP00000307781:A327T;ENSP00000396687:A270T;ENSP00000437579:A332T;ENSP00000361877:A332T ENSP00000307781:A327T A + 1 0 ODF2 130286101 1.000000 0.71417 1 0.803570 0.948000 0.599010 4.174000 0.58256 2.749000 0.943140 0.655000 0.942530 GCA TCGA-IB-AAUQ-01A-22D-A40W-08 ODF2-011 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000054449.3 0 0 0 5 367 0 97 0 5.250612e-02 0 22 0 97 2 0 0 0 0 0 2 1 0.935702 5 362 0 97 2 -4.966651 1 1 0 0 1 0 1 1 2.012202 0 0.250000 1.930000 0.248120 0.110000 0.030000 0.240000 0.110000 0.126982 0.110000 0 7.000000e-02 1.800000e-01 SMARCA2 6595 broad.mit.edu 37 9 2054681 2054681 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:2054681C>T ENST00000382203.1 + 6 1340 c.1131C>T c.(1129-1131)acC>acT p.T377T SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) CCAAAGCAACCGTGGAACTAA 0.403000 0 SO:0001819 synonymous_variant ENST00000382203.1 1 1 hg19 CCDS34977.1 TCGA-IB-AAUQ-01A-22D-A40W-08 SMARCA2-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000051505.1 1 0 1 70 397 0 110 0 8.609310e-01 1 21 0 110 2 0 0 0 0 0 2 1 1.000000 70 395 0 109 2 -2.445026 0 1 121412 1 32 1 0 2 2 2.011948 1 0.250000 1.930000 0.250000 0.990000 0.950000 1.000000 1.000000 0.997274 0.990000 1 9.900000e-01 1 GBA2 57704 broad.mit.edu 37 9 35738753 35738753 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:35738753C>T ENST00000378103.3 - 12 2466 c.1943G>A c.(1942-1944)tGt>tAt p.C648Y GBA2_ENST00000378094.4_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000378088.1_5'Flank NM_020944.2 NP_065995.1 Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCTTACTAGACACACAGGCCA 0.522000 0 SO:0001583 missense ENST00000378103.3 1 1 hg19 CCDS6589.1 . . . . . . . . . . C 19.560000 3.850912 0.717190 . . ENSG00000070610 ENST00000378103;ENST00000378094;ENST00000545786 . . . 6.080000 5.180000 0.714440 Six-hairpin glycosidase-like (1);Glucosylceramidase (1); 0.000000 0.85682 D 0.000000 T 0.77824 0.4188 M 0.78049 2.395 0.807220 D 1.000000 B;D;B 0.71674 0.202;0.998;0.241 B;D;B 0.67548 0.097;0.952;0.157 T 0.81068 -0.1100 9 0.87932 D 0 -15.2752 13.462700 0.612350 0.0:0.9284:0.0:0.0716 . 654;648;648 F5H7P6;Q9HCG7-2;Q9HCG7 .;.;GBA2_HUMAN Y 648;648;654 . ENSP00000367334:C648Y C - 2 0 GBA2 35728753 1.000000 0.71417 1 0.803570 0.998000 0.957120 7.709000 0.84645 1.590000 0.499950 0.655000 0.942530 TGT TCGA-IB-AAUQ-01A-22D-A40W-08 GBA2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000055456.1 1 0 1 25 282 0 89 1 9.405275e-01 9 47 0 89 2 0 0 0 0 0 2 1 1.000000 25 280 0 88 2 -20.000000 1 0 0 0 1 0 2 2 2.011948 1 0.250000 1.930000 0.250000 0.650000 0.430000 0.910000 0.640000 0.666145 0.650000 0 5.300000e-01 7.900000e-01 FGF13 2258 broad.mit.edu 37 X 137715118 137715118 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chrX:137715118C>T ENST00000315930.6 - 5 1292 c.631G>A c.(631-633)Gat>Aat p.D211N FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 24 Acute lymphoblastic leukemia(192;0.000127) TCCGTGAGATCGTGCAGTGAT 0.483000 0 SO:0001583 missense ENST00000315930.6 1 1 hg19 CCDS14665.1 . . . . . . . . . . C 17.280000 3.350265 0.611830 . . ENSG00000129682 ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198 T;T;T;T;T;D 0.81739 -0.21;-0.21;-0.21;-0.21;-0.21;-1.53 5.880000 5.880000 0.946010 . 0.000000 0.85682 D 0.000000 T 0.73613 0.3609 L 0.38175 1.15 0.807220 D 1.000000 B;B;B;B 0.29936 0.114;0.262;0.182;0.23 B;B;B;B 0.20184 0.012;0.018;0.028;0.019 T 0.71126 -0.4683 10 0.44086 T 0.13 . 18.049600 0.893430 0.0:1.0:0.0:0.0 . 165;221;158;211 B7Z8N0;B7Z4M7;Q92913-2;Q92913 .;.;.;FGF13_HUMAN N 211;158;192;221;165;221 ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N ENSP00000303391:D158N D - 1 0 FGF13 137542784 1.000000 0.71417 9.820000e-01 0.441460 0.920000 0.552020 7.487000 0.81328 2.485000 0.838780 0.600000 0.829820 GAT TCGA-IB-AAUQ-01A-22D-A40W-08 FGF13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058534.2 1 0 1 48 176 0 66 0 2.980665e-01 0 5 0 66 2 0 0 0 0 0 2 1 1.000000 47 172 0 65 2 -20.000000 1 1 0 0 1 0 1 1 0.250000 1.930000 0.250000 0.830000 0.640000 0.980000 0.850000 0.835241 0.830000 0 7.300000e-01 9.300000e-01