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 SIGIRR 59307 broad.mit.edu 37 11 406437 406439 + In_Frame_Del DEL GTC GTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 GTC - GTC GTC Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:406437_406439delGTC ENST00000431843.2 - 9 1285_1287 c.979_981delGAC c.(979-981)gacdel p.D327del SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) TGGGGTCCTTGTCGTCCTGCAGC 0.650000 0 SO:0001651 inframe_deletion ENST00000431843.2 1 1 hg19 CCDS31325.1 TCGA-F2-6879-01A-11D-2154-08 SIGIRR-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383884.3 1 0 0 125 457 0 73 1 1 135 429 0 73 2 0 0 0 0 0 0 1 1.000000 152 486 0 70 2 -20.000000 1 0 0 0 1 1 2 3 2.104286 0 0.670000 1.870000 0.671102 0.630000 5.400000e-01 0.750000 0.640000 0.645653 0.630000 0 5.800000e-01 7.000000e-01 FAT4 79633 broad.mit.edu 37 4 126241496 126241502 + Frame_Shift_Del DEL CAATACC CAATACC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:126241496_126241502delCAATACC ENST00000394329.3 + 1 3943_3949 c.3930_3936delCAATACC c.(3928-3936)gacaataccfs p.DNT1310fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 p.T1312S(2) 355 ATGAAAATGACAATACCCCTTCTTTCC 0.391000 2 Substitution - Missense(2) SO:0001589 frameshift_variant ENST00000394329.3 1 1 hg19 CCDS3732.3 TCGA-F2-6879-01A-11D-2154-08 FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 1 0 0 100 512 0 80 0 1.925968e-01 0 5 0 80 2 0 0 0 0 0 0 1 1.000000 136 545 0 78 2 -20.000000 1 1 0 0 1 1 2 3 2.128560 0 0.670000 1.870000 0.672196 0.480000 4.000000e-01 0.600000 0.490000 0.498883 0.480000 0 4.400000e-01 5.400000e-01 NPAS4 266743 broad.mit.edu 37 11 66190209 66190209 + Missense_Mutation SNP A A T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:66190209A>T ENST00000311034.2 + 4 671 c.495A>T c.(493-495)aaA>aaT p.K165N NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 49 CAGGCAACAAACTCGTGCTTA 0.552000 0 SO:0001583 missense ENST00000311034.2 1 1 hg19 CCDS8138.1 . . . . . . . . . . A 22.2 4.254963 0.80135 . . ENSG00000174576 ENST00000311034 T 0.55588 0.51 5.74 1.2 0.21068 . 0.097095 0.45606 D 0.000357 T 0.70245 0.3202 M 0.87038 2.855 0.58432 D 0.999999 D 0.71674 0.998 D 0.72982 0.979 T 0.69461 -0.5139 10 0.87932 D 0 -10.5374 7.7832 0.29077 0.4889:0.0:0.5111:0.0 . 165 Q8IUM7 NPAS4_HUMAN N 165 ENSP00000311196:K165N ENSP00000311196:K165N K + 3 2 NPAS4 65946785 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 1.957000 0.40392 0.145000 0.18977 0.533000 0.62120 AAA TCGA-F2-6879-01A-11D-2154-08 NPAS4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392634.1 1 0 1 161 323 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 1.000000 160 315 0 45 2 -20.000000 1 1 0 0 1 1 2 3 2.152666 0 0.670000 1.870000 0.675436 0.990000 8.800000e-01 1.000000 1.000000 0.979802 0.990000 1 9.400000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-F2-6879-01A-11D-2154-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 43 52 0 21 1 1 29 17 0 21 2 1 1 146 211 0 273 2 1 1.000000 42 52 0 20 2 -20.000000 1 1 0 0 1 0.670000 1.870000 0 0 HTR2A 3356 broad.mit.edu 37 13 47466615 47466615 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:47466615C>T ENST00000378688.4 - 2 654 c.523G>A c.(523-525)Gtc>Atc p.V175I HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I|HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246) TGGATGGCGACGTAGCGGTCC 0.537000 0 SO:0001583 missense ENST00000378688.4 1 1 hg19 CCDS9405.1 . . . . . . . . . . C 9.123 1.009491 0.19277 . . ENSG00000102468 ENST00000378688;ENST00000543956;ENST00000542664 T;T;T 0.38560 2.16;1.13;2.16 6.16 5.22 0.72569 GPCR, rhodopsin-like superfamily (1); 0.056991 0.64402 D 0.000002 T 0.11965 0.0291 N 0.01242 -0.935 0.41185 D 0.986261 B;B 0.16603 0.013;0.018 B;B 0.19391 0.022;0.025 T 0.39623 -0.9605 10 0.02654 T 1 . 4.7372 0.12993 0.0:0.7455:0.0:0.2545 . 91;175 F5GWE8;P28223 .;5HT2A_HUMAN I 175;91;175 ENSP00000367959:V175I;ENSP00000441861:V91I;ENSP00000437737:V175I ENSP00000367959:V175I V - 1 0 HTR2A 46364616 0.999000 0.42202 0.441000 0.26858 0.958000 0.62258 3.377000 0.52425 2.937000 0.99478 0.650000 0.86243 GTC TCGA-F2-6879-01A-11D-2154-08 HTR2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044835.3 1 0 1 480 958 0 158 0 0 0 0 158 2 0 0 0 0 0 2 1 1.000000 475 941 0 155 2 -20.000000 1 1 121412 2 40 1 0 0 0 2.094656 0 0.670000 1.870000 0.670000 0.990000 9.100000e-01 1.000000 1.000000 0.983214 0.990000 1 9.500000e-01 1 NRXN3 9369 broad.mit.edu 37 14 79746678 79746678 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:79746678C>T ENST00000557594.1 + 1 997 c.44C>T c.(43-45)cCg>cTg p.P15L NRXN3_ENST00000281127.7_Missense_Mutation_p.P15L|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L NM_001272020.1 NP_001258949.1 Q9HDB5 NRX3B_HUMAN neurexin 3 104 Renal(4;0.00876) CCTCGCCGGCCGGCCTGGACG 0.572000 0 SO:0001583 missense ENST00000557594.1 1 1 hg19 . . . . . . . . . . C 21.3 4.132572 0.77662 . . ENSG00000021645 ENST00000557594;ENST00000281127;ENST00000428277 T;T;T 0.35789 1.4;1.46;1.29 5.58 5.58 0.84498 . . . . . T 0.43590 0.1254 N 0.14661 0.345 0.80722 D 1 D;D;D 0.89917 1.0;0.99;0.983 D;D;D 0.79108 0.992;0.969;0.931 T 0.33420 -0.9869 8 . . . . 17.8182 0.88642 0.0:1.0:0.0:0.0 . 15;15;15 Q9HDB5-4;Q9HDB5-2;Q9HDB5 .;.;NRX3B_HUMAN L 15 ENSP00000451672:P15L;ENSP00000281127:P15L;ENSP00000394426:P15L . P + 2 0 NRXN3 78816431 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 2.259000 0.43259 2.647000 0.89833 0.558000 0.71614 CCG TCGA-F2-6879-01A-11D-2154-08 NRXN3-004 NOVEL basic protein_coding protein_coding OTTHUMT00000413790.1 1 0 0 47 906 0 101 0 0 0 1 0 101 2 0 0 0 0 0 2 1 0.988252 44 889 1 99 28 -5.799979 1 1 0 0 1 1 2 3 2.137941 0 0.670000 1.870000 0.674364 0.140000 1.000000e-01 1.000000 0.150000 0.176379 0.140000 0 1.200000e-01 1.800000e-01 ACTC1 70 broad.mit.edu 37 15 35084689 35084689 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:35084689C>T ENST00000290378.4 - 4 1191 c.536G>A c.(535-537)cGt>cAt p.R179H RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 31 all_lung(180;2.3e-08) CAGATCCAGACGCATGATGGC 0.547000 0 SO:0001583 missense ENST00000290378.4 1 1 hg19 CCDS10041.1 . . . . . . . . . . C 16.59 3.167082 0.57476 . . ENSG00000159251 ENST00000290378;ENST00000544062 D 0.94966 -3.57 4.99 4.99 0.66335 . 0.000000 0.53938 U 0.000042 D 0.96225 0.8769 M 0.81682 2.555 0.80722 D 1 D 0.53462 0.96 P 0.52267 0.694 D 0.96705 0.9521 10 0.87932 D 0 . 18.8258 0.92117 0.0:1.0:0.0:0.0 . 179 P68032 ACTC_HUMAN H 179;144 ENSP00000290378:R179H ENSP00000290378:R179H R - 2 0 ACTC1 32871981 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.499000 0.81566 2.755000 0.94549 0.591000 0.81541 CGT TCGA-F2-6879-01A-11D-2154-08 ACTC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251876.3 1 0 1 112 343 0 78 0 1.537986e-01 0 3 0 78 2 0 0 0 0 0 2 1 1.000000 110 339 0 77 2 -20.000000 1 1 0 0 1 2 2 4 2.204492 0 0.670000 1.870000 0.686788 0.770000 6.500000e-01 1.000000 0.770000 0.791232 0.770000 0 7.100000e-01 8.600000e-01 NKD1 85407 broad.mit.edu 37 16 50666302 50666302 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:50666302C>T ENST00000268459.3 + 9 1030 c.806C>T c.(805-807)aCg>aTg p.T269M NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 23 all_cancers(37;0.229) GAAAACTACACGTCCCAATTT 0.597000 0 SO:0001583 missense ENST00000268459.3 1 1 hg19 CCDS10743.1 . . . . . . . . . . C 27.0 4.791638 0.90367 . . ENSG00000140807 ENST00000268459 T 0.77620 -1.11 5.14 5.14 0.70334 . 0.000000 0.85682 D 0.000000 D 0.89273 0.6668 M 0.82823 2.61 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.90850 0.4730 10 0.87932 D 0 -12.9426 18.6084 0.91275 0.0:1.0:0.0:0.0 . 269 Q969G9 NKD1_HUMAN M 269 ENSP00000268459:T269M ENSP00000268459:T269M T + 2 0 NKD1 49223803 1.000000 0.71417 0.987000 0.45799 0.978000 0.69477 7.578000 0.82498 2.403000 0.81681 0.563000 0.77884 ACG TCGA-F2-6879-01A-11D-2154-08 NKD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256873.1 1 0 1 78 141 0 21 1 9.975721e-01 2 18 0 21 2 0 0 0 0 0 2 1 1.000000 77 138 0 19 2 -20.000000 1 1 121410 1 28 1 1 2 3 2.105498 0 0.670000 1.870000 0.671102 0.990000 8.700000e-01 1.000000 1.000000 0.986681 0.990000 1 9.600000e-01 1 FBXW10 10517 broad.mit.edu 37 17 18668178 18668178 + Splice_Site SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:18668178T>C ENST00000395665.4 + 8 1776 c.e8+2 FBXW10_ENST00000308799.4_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 42 AGGTAAAAGGTGAGAAAGAAG 0.443000 0 SO:0001630 splice_region_variant ENST00000395665.4 0 1 hg19 CCDS11199.3 . . . . . . . . . . T 12.17 1.856478 0.32791 . . ENSG00000171931 ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665 . . . 3.59 3.59 0.41128 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 10.2006 0.43082 0.0:0.0:0.0:1.0 . . . . . -1 . . . + . . FBXW10 18608903 1.000000 0.71417 1.000000 0.80357 0.331000 0.28603 6.453000 0.73488 1.491000 0.48482 0.163000 0.16589 . TCGA-F2-6879-01A-11D-2154-08 FBXW10-003 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000313531.2 1 0 0 104 111 0 20 0 0 0 0 20 2 0 0 0 0 0 2 1 1.000000 93 95 0 60 2 -20.000000 1 1 0 0 1 0 1 1 1.496731 1 0.670000 1.870000 0.515952 0.960000 8.300000e-01 1.000000 1.000000 0.955196 0.960000 1 9.000000e-01 1 SLC4A1 6521 broad.mit.edu 37 17 42332022 42332022 + Silent SNP C C T rs148412733 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:42332022C>T ENST00000262418.6 - 16 2054 c.1899G>A c.(1897-1899)tcG>tcA p.S633S NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 40 Breast(137;0.014)|Prostate(33;0.0181) CATCAGGCACCGAGAGTTTCT 0.612000 0 SO:0001819 synonymous_variant ENST00000262418.6 1 0 hg19 CCDS11481.1 TCGA-F2-6879-01A-11D-2154-08 SLC4A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346194.1 1 0 1 51 49 0 15 0 0 0 0 15 2 0 0 0 0 0 2 1 1.000000 50 49 0 15 2 -14.920640 1 0 121412 11 39 1 0 1 1 1.506177 1 0.670000 1.870000 0.506247 0.940000 7.800000e-01 1.000000 1.000000 0.932967 0.940000 1 8.600000e-01 9.900000e-01 PLCD3 113026 broad.mit.edu 37 17 43192471 43192471 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:43192471G>A ENST00000322765.5 - 11 1812 c.1699C>T c.(1699-1701)Cgg>Tgg p.R567W PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 17 CCTGCCTCCCGAATGAGTTTC 0.657000 0 SO:0001583 missense ENST00000322765.5 0 1 hg19 . . . . . . . . . . G 10.89 1.479804 0.26511 . . ENSG00000161714 ENST00000322765 T 0.68765 -0.35 3.78 -0.997 0.10215 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3); 0.152498 0.44483 D 0.000455 T 0.49932 0.1586 . . . 0.33151 D 0.545763 B 0.22346 0.068 B 0.12837 0.008 T 0.49818 -0.8899 9 0.87932 D 0 . 6.6438 0.22925 0.1084:0.0:0.2189:0.6726 . 568 Q8N3E9 PLCD3_HUMAN W 567 ENSP00000313731:R567W ENSP00000313731:R567W R - 1 2 PLCD3 40547997 1.000000 0.71417 0.964000 0.40570 0.197000 0.23852 1.024000 0.30077 0.048000 0.15891 0.462000 0.41574 CGG TCGA-F2-6879-01A-11D-2154-08 PLCD3-201 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 3 31 0 11 0 9.757154e-01 0 86 0 11 2 0 0 0 0 0 2 1 0.803100 3 30 0 11 2 -7.627057 1 1 0 0 1 0 1 1 1.506177 1 0.670000 1.870000 0.506247 0.190000 5.000000e-02 0.430000 0.170000 0.215497 0.190000 0 1.100000e-01 3.100000e-01 MYBBP1A 10514 broad.mit.edu 37 17 4458561 4458561 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:4458561G>A ENST00000254718.4 - 1 365 c.59C>T c.(58-60)gCc>gTc p.A20V MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 24 GGCAGGCCGGGCGCCACTCTG 0.637000 0 SO:0001583 missense ENST00000254718.4 0 1 hg19 CCDS11046.1 . . . . . . . . . . G 11.27 1.590249 0.28357 . . ENSG00000132382 ENST00000381556;ENST00000254718;ENST00000426435 T;T 0.18657 2.2;2.21 3.65 -2.44 0.06502 . 0.961415 0.08483 N 0.939134 T 0.08537 0.0212 N 0.12182 0.205 0.09310 N 1 B;B 0.11235 0.002;0.004 B;B 0.11329 0.003;0.006 T 0.35450 -0.9788 10 0.23302 T 0.38 . 1.0496 0.01577 0.3956:0.1515:0.2986:0.1543 . 20;20 Q9BQG0;Q9BQG0-2 MBB1A_HUMAN;. V 20 ENSP00000370968:A20V;ENSP00000254718:A20V ENSP00000254718:A20V A - 2 0 MYBBP1A 4405310 0.095000 0.21747 0.011000 0.14972 0.013000 0.08279 -0.258000 0.08733 -0.739000 0.04809 -0.952000 0.02654 GCC TCGA-F2-6879-01A-11D-2154-08 MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000207488.2 1 0 1 34 24 0 9 1 9.999998e-01 20 8 0 9 2 0 0 0 0 0 2 1 1.000000 34 24 0 9 2 -20.000000 1 1 0 0 1 0 1 1 1.478377 1 0.670000 1.870000 0.503759 0.940000 7.900000e-01 1.000000 0.990000 0.940095 0.940000 1 8.800000e-01 9.900000e-01 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 T C T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:7578190T>C ENST00000269305.4 - 6 848 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) AGGCGGCTCATAGGGCACCAC 0.557000 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 343 Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1) GRCh37 CM015378|CM951227 TP53 M rs121912666 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . T 22.1 4.248510 0.80024 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 D;D;D;D;D;D;D;D 0.99840 -7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08 5.28 5.28 0.74379 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99822 0.9921 M 0.89287 3.02 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D 0.97110 1.0;0.998;0.996;1.0;0.999;0.998;1.0 D 0.96735 0.9542 10 0.87932 D 0 -1.87 13.4753 0.61306 0.0:0.0:0.0:1.0 . 181;220;220;127;220;220;220 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. C 220;220;220;220;220;220;209;127;88;127 ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C ENSP00000269305:Y220C Y - 2 0 TP53 7518915 1.000000 0.71417 0.585000 0.28666 0.993000 0.82548 6.232000 0.72313 2.128000 0.65567 0.460000 0.39030 TAT TCGA-F2-6879-01A-11D-2154-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 59 70 0 26 1 1 63 26 0 26 2 1 1 325 356 0 820 2 1 1.000000 56 68 0 26 2 -20.000000 1 1 121412 3 37 1 0 1 1 1.507814 1 0.670000 1.870000 0.506247 0.880000 7.300000e-01 1.000000 0.910000 0.888164 0.880000 1 8.000000e-01 9.600000e-01 CDH7 1005 broad.mit.edu 37 18 63526217 63526217 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:63526217G>A ENST00000397968.2 + 9 1855 c.1429G>A c.(1429-1431)Gat>Aat p.D477N CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000536984.2_Missense_Mutation_p.D477N NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 80 Esophageal squamous(42;0.129) TGACATCAATGATAACGCCCC 0.428000 0 SO:0001583 missense ENST00000397968.2 0 1 hg19 CCDS11993.1 . . . . . . . . . . G 34 5.403313 0.96051 . . ENSG00000081138 ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968 T;T;T 0.75367 -0.93;-0.93;-0.93 5.32 5.32 0.75619 Cadherin (4);Cadherin conserved site (1);Cadherin-like (1); 0.000000 0.85682 D 0.000000 D 0.91693 0.7374 H 0.97707 4.06 0.80722 D 1 D;D 0.89917 0.996;1.0 D;D 0.83275 0.945;0.996 D 0.94311 0.7545 10 0.87932 D 0 . 19.347 0.94367 0.0:0.0:1.0:0.0 . 477;477 F5H5X9;Q9ULB5 .;CADH7_HUMAN N 477 ENSP00000319166:D477N;ENSP00000443030:D477N;ENSP00000381058:D477N ENSP00000319166:D477N D + 1 0 CDH7 61677197 1.000000 0.71417 1.000000 0.80357 0.924000 0.55760 9.666000 0.98612 2.648000 0.89879 0.467000 0.42956 GAT TCGA-F2-6879-01A-11D-2154-08 CDH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256217.2 0 0 0 6 192 0 34 0 0 0 0 34 2 0 0 0 0 0 2 1 0.963425 6 188 0 33 2 -3.486004 1 1 0 0 1 0 1 1 1.455464 1 0.670000 1.870000 0.503759 0.060000 2.000000e-02 0.120000 0.060000 0.069125 0.060000 0 3.000000e-02 9.000000e-02 LAMA1 284217 broad.mit.edu 37 18 6943188 6943188 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:6943188C>T ENST00000389658.3 - 62 9151 c.9058G>A c.(9058-9060)Ggc>Agc p.G3020S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 205 Colorectal(10;0.172) CCAGGATAGCCACCAACATAA 0.502000 0 SO:0001583 missense ENST00000389658.3 1 1 hg19 CCDS32787.1 . . . . . . . . . . C 35 5.551971 0.96501 . . ENSG00000101680 ENST00000389658 T 0.70869 -0.52 5.86 5.86 0.93980 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1); 0.000000 0.85682 D 0.000000 D 0.88336 0.6409 M 0.90870 3.155 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.89477 0.3747 10 0.62326 D 0.03 . 20.1772 0.98182 0.0:1.0:0.0:0.0 . 3020;350 P25391;B3KSD8 LAMA1_HUMAN;. S 3020 ENSP00000374309:G3020S ENSP00000374309:G3020S G - 1 0 LAMA1 6933188 1.000000 0.71417 0.972000 0.41901 0.992000 0.81027 7.399000 0.79935 2.778000 0.95560 0.655000 0.94253 GGC TCGA-F2-6879-01A-11D-2154-08 LAMA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257369.1 1 0 1 80 170 0 36 0 0 0 1 0 36 2 0 0 0 0 0 2 1 1.000000 80 168 0 36 2 -20.000000 1 1 0 0 1 1 2 3 2.151162 0 0.670000 1.870000 0.675436 0.970000 7.900000e-01 1.000000 1.000000 0.951432 0.970000 1 8.800000e-01 1 GRIN2D 2906 broad.mit.edu 37 19 48918276 48918276 + Missense_Mutation SNP G G C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:48918276G>C ENST00000263269.3 + 6 1656 c.1568G>C c.(1567-1569)gGc>gCc p.G523A NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) GTCTGGAACGGCATGATCGGG 0.637000 0 SO:0001583 missense ENST00000263269.3 1 1 hg19 CCDS12719.1 . . . . . . . . . . G 28.8 4.950995 0.92660 . . ENSG00000105464 ENST00000263269 T 0.56444 0.46 4.88 4.88 0.63580 Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1); 0.000000 0.85682 D 0.000000 T 0.79341 0.4429 M 0.92268 3.29 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85032 0.0918 10 0.87932 D 0 . 17.1833 0.86860 0.0:0.0:1.0:0.0 . 523 O15399 NMDE4_HUMAN A 523 ENSP00000263269:G523A ENSP00000263269:G523A G + 2 0 GRIN2D 53610088 1.000000 0.71417 1.000000 0.80357 0.959000 0.62525 9.546000 0.98097 2.445000 0.82738 0.655000 0.94253 GGC TCGA-F2-6879-01A-11D-2154-08 GRIN2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466121.1 1 0 1 98 238 0 24 1 1 49 53 0 24 2 0 0 0 0 0 2 1 1.000000 96 232 0 24 2 -7.904220 1 1 0 0 1 2 2 4 2.234464 0 0.670000 1.870000 0.690722 0.930000 7.700000e-01 1.000000 1.000000 0.929127 0.930000 1 8.500000e-01 1 ZIM2 23619 broad.mit.edu 37 19 57286068 57286068 + Silent SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:57286068G>A ENST00000391708.3 - 12 2114 c.1572C>T c.(1570-1572)tgC>tgT p.C524C AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000601070.1_Silent_p.C524C|ZIM2_ENST00000221722.5_Silent_p.C524C NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 p.C524C(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) AACAGTGATCGCACTCAACAG 0.458000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000391708.3 0 1 hg19 CCDS33123.1 TCGA-F2-6879-01A-11D-2154-08 ZIM2-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416094.2 1 0 0 64 189 0 38 0 0 0 0 38 2 0 0 0 0 0 2 1 1.000000 62 187 0 37 2 -20.000000 1 1 121412 3 32 1 2 2 4 2.221572 0 0.670000 1.870000 0.688767 0.800000 6.300000e-01 1.000000 0.800000 0.819033 0.800000 0 7.100000e-01 9.200000e-01 TMEM82 388595 broad.mit.edu 37 1 16069389 16069389 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:16069389G>A ENST00000375782.1 + 2 286 c.148G>A c.(148-150)Gtg>Atg p.V50M RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) TTACTTCTTCGTGGGCTGTGC 0.662000 0 SO:0001583 missense ENST00000375782.1 0 1 hg19 CCDS30608.1 . . . . . . . . . . G 18.65 3.670358 0.67814 . . ENSG00000162460 ENST00000375782 T 0.50277 0.75 4.48 2.05 0.26809 . 0.816927 0.10716 N 0.642304 T 0.53674 0.1811 M 0.62723 1.935 0.22240 N 0.99926 D 0.63046 0.992 P 0.54706 0.759 T 0.41770 -0.9490 10 0.72032 D 0.01 -12.4796 5.2429 0.15481 0.1953:0.1904:0.6142:0.0 . 50 A0PJX8 TMM82_HUMAN M 50 ENSP00000364938:V50M ENSP00000364938:V50M V + 1 0 TMEM82 15941976 0.000000 0.05858 0.996000 0.52242 0.935000 0.57460 0.266000 0.18534 0.953000 0.37825 0.556000 0.70494 GTG TCGA-F2-6879-01A-11D-2154-08 TMEM82-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000008471.2 1 0 0 13 209 0 15 0 0 0 1 0 15 2 0 0 0 0 0 2 1 0.999482 13 203 0 15 2 -16.277890 1 1 121312 1 28 1 2 2 4 2.218626 0 0.670000 1.870000 0.688767 0.190000 1.000000e-01 1.000000 0.180000 0.255778 0.190000 0 1.400000e-01 2.700000e-01 DUSP27 92235 broad.mit.edu 37 1 167095421 167095421 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:167095421C>T ENST00000361200.2 + 6 1219 c.1053C>T c.(1051-1053)taC>taT p.Y351Y DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) p.Y351Y(1) 89 AGAAACTGTACGAGCAGTGGA 0.662000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000361200.2 1 1 hg19 CCDS30932.1 TCGA-F2-6879-01A-11D-2154-08 DUSP27-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083244.1 1 0 1 12 37 0 9 0 0 0 0 9 2 0 0 0 0 0 2 1 0.999370 10 37 0 9 2 -19.999960 1 1 0 0 1 1 2 3 2.149153 0 0.670000 1.870000 0.674364 0.750000 4.300000e-01 1.000000 1.000000 0.760642 0.750000 0 5.800000e-01 9.700000e-01 B3GALT2 8707 broad.mit.edu 37 1 193150555 193150555 + Missense_Mutation SNP A A C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:193150555A>C ENST00000367434.4 - 2 893 c.138T>G c.(136-138)caT>caG p.H46Q CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 16 GCAGCCAGTCATGATGATTGA 0.428000 0 SO:0001583 missense ENST00000367434.4 1 1 hg19 CCDS1383.1 . . . . . . . . . . A 0.052 -1.246213 0.01481 . . ENSG00000162630 ENST00000367434 T 0.34859 1.34 5.25 -1.75 0.08031 . 0.253868 0.42294 N 0.000722 T 0.12305 0.0299 N 0.03608 -0.345 0.39789 D 0.972407 B 0.06786 0.001 B 0.04013 0.001 T 0.09662 -1.0664 10 0.24483 T 0.36 . 6.4842 0.22079 0.4727:0.0:0.4067:0.1206 . 46 O43825 B3GT2_HUMAN Q 46 ENSP00000356404:H46Q ENSP00000356404:H46Q H - 3 2 B3GALT2 191417178 0.028000 0.19301 0.996000 0.52242 0.117000 0.20001 -0.633000 0.05483 -0.242000 0.09667 0.533000 0.62120 CAT TCGA-F2-6879-01A-11D-2154-08 B3GALT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086759.1 1 0 0 27 391 0 32 0 1.312380e-02 0 3 0 32 2 0 0 0 0 0 2 1 1.000000 25 386 0 32 2 -20.000000 1 1 0 0 1 1 2 3 2.145058 0 0.670000 1.870000 0.674364 0.190000 1.200000e-01 1.000000 0.200000 0.224424 0.190000 0 1.500000e-01 2.400000e-01 HLX 3142 broad.mit.edu 37 1 221057767 221057767 + Silent SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:221057767G>A ENST00000366903.6 + 4 2689 c.1188G>A c.(1186-1188)ggG>ggA p.G396G HLX_ENST00000549319.1_Silent_p.G182G NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 32 GGACTGAGGGGAGTGAGCGTT 0.652000 0 SO:0001819 synonymous_variant ENST00000366903.6 1 1 hg19 CCDS1527.1 TCGA-F2-6879-01A-11D-2154-08 HLX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090902.3 0 0 1 67 150 0 28 1 1 3 75 0 28 2 0 0 0 0 0 2 1 1.000000 65 143 0 27 2 -20.000000 1 1 0 0 1 1 2 3 2.145058 0 0.670000 1.870000 0.674364 0.930000 7.500000e-01 1.000000 1.000000 0.924746 0.930000 1 8.300000e-01 1 OBSCN 84033 broad.mit.edu 37 1 228479741 228479741 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:228479741C>T ENST00000422127.1 + 39 10526 c.10482C>T c.(10480-10482)taC>taT p.Y3494Y OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000570156.2_Silent_p.Y3923Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y NM_001098623.2 NP_001092093.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 223 Prostate(94;0.0405) GGGACAGATACATCCTGAGGC 0.632000 0 SO:0001819 synonymous_variant ENST00000422127.1 1 1 hg19 CCDS58065.1 TCGA-F2-6879-01A-11D-2154-08 OBSCN-204 KNOWN basic|CCDS protein_coding protein_coding 1 0 0 34 426 0 59 0 0 0 0 59 2 0 0 0 0 0 2 1 1.000000 32 411 0 58 2 -9.323665 1 1 121040 1 32 1 1 2 3 2.145058 0 0.670000 1.870000 0.674364 0.220000 1.500000e-01 1.000000 0.220000 0.251126 0.220000 0 1.800000e-01 2.700000e-01 RSPO1 284654 broad.mit.edu 37 1 38079563 38079563 + Splice_Site SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:38079563C>T ENST00000401069.1 - 6 1150 c.438G>A c.(436-438)gcG>gcA p.A146A RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A NM_001242908.1 NP_001229837.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCACATTGCGCTGGCAGGA 0.617000 GBM(122;680 2230 27822 42821) 0 SO:0001630 splice_region_variant ENST00000401069.1 1 0 hg19 CCDS41304.1 TCGA-F2-6879-01A-11D-2154-08 RSPO1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012477.2 1 0 1 116 217 0 45 0 6.774471e-01 0 6 0 45 2 0 0 0 0 0 2 1 1.000000 115 212 0 43 2 -12.961280 1 1 120878 5 40 1 2 2 4 2.227741 0 0.670000 1.870000 0.690722 0.990000 9.400000e-01 1.000000 1.000000 0.996961 0.990000 1 9.900000e-01 1 MYT1 4661 broad.mit.edu 37 20 62838994 62838994 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:62838994G>A ENST00000328439.1 + 7 809 c.445G>A c.(445-447)Gcc>Acc p.A149T MYT1_ENST00000536311.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron NM_004535.2 NP_004526.1 Q99640 PMYT1_HUMAN myelin transcription factor 1 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CATCGGCAGCGCCACTGCCTC 0.552000 GBM(59;481 1041 20555 21139 33705) 0 SO:0001583 missense ENST00000328439.1 1 1 hg19 CCDS13558.1 . . . . . . . . . . g 6.847 0.525511 0.13066 . . ENSG00000196132 ENST00000328439;ENST00000536311 T;T 0.45276 0.9;0.91 4.32 -0.391 0.12446 . 0.867931 0.10082 N 0.718370 T 0.14227 0.0344 N 0.03608 -0.345 0.20196 N 0.99992 B 0.02656 0.0 B 0.01281 0.0 T 0.24584 -1.0156 10 0.13470 T 0.59 -1.3728 1.1079 0.01698 0.2243:0.3488:0.2532:0.1737 . 149 Q01538 MYT1_HUMAN T 149 ENSP00000327465:A149T;ENSP00000442412:A149T ENSP00000327465:A149T A + 1 0 MYT1 62309438 0.001000 0.12720 0.061000 0.19648 0.619000 0.37552 -0.116000 0.10724 -0.138000 0.11434 -0.267000 0.10333 GCC TCGA-F2-6879-01A-11D-2154-08 MYT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080297.1 1 0 1 202 623 0 73 0 0 0 0 73 2 0 0 0 0 0 2 1 1.000000 194 614 0 73 2 -6.339868 1 1 121412 42 47 1 1 2 3 2.773911 1 0.670000 1.870000 0.752809 0.970000 8.500000e-01 1.000000 1.000000 0.962965 0.970000 1 9.100000e-01 1 TRPM2 7226 broad.mit.edu 37 21 45838383 45838383 + Nonsense_Mutation SNP C C T rs143493112 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:45838383C>T ENST00000397928.1 + 22 3851 c.3406C>T c.(3406-3408)Cga>Tga p.R1136* TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116* NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 76 CCTCCAGAACCGACAGTTCCA 0.607000 0 SO:0001587 stop_gained ENST00000397928.1 0 1 hg19 CCDS13710.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 38 7.041531 0.98021 6.81E-4 0.001395 ENSG00000142185 ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932 . . . 4.81 4.81 0.61882 . 0.605119 0.16448 N 0.213991 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.15066 T 0.55 -12.6798 11.4159 0.49951 0.0:0.9154:0.0:0.0846 . . . . X 1136;1136;1116;1136 . ENSP00000300481:R1116X R + 1 2 TRPM2 44662811 0.834000 0.29399 0.303000 0.25071 0.096000 0.18686 3.140000 0.50585 2.395000 0.81488 0.514000 0.50259 CGA TCGA-F2-6879-01A-11D-2154-08 TRPM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098086.1 1 0 0 267 642 0 106 0 6.572214e-01 0 7 0 106 2 0 0 0 0 0 2 1 1.000000 265 632 0 103 2 -2.665581 1 1 121410 100 54 1 1 2 3 2.119469 0 0.670000 1.870000 0.672196 0.870000 7.800000e-01 0.980000 0.880000 0.884608 0.870000 1 8.300000e-01 9.300000e-01 COL18A1 80781 broad.mit.edu 37 21 46925862 46925862 + Missense_Mutation SNP C C A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:46925862C>A ENST00000359759.4 + 36 4464 c.4443C>A c.(4441-4443)aaC>aaA p.N1481K SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 25 GCGTGCAGAACGGGTTCCGGA 0.667000 0 SO:0001583 missense ENST00000359759.4 1 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 11.69|11.69 1.714181|1.714181 0.30413|0.30413 .|. .|. ENSG00000182871|ENSG00000182871 ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214 T;T;T;T|. 0.39787|. 1.06;1.06;1.06;1.06|. 3.69|3.69 -5.5|-5.5 0.02576|0.02576 Collagenase NC10/endostatin (1);|. 0.392987|. 0.24798|. U|. 0.035513|. T|T 0.41604|0.41604 0.1166|0.1166 L|L 0.41236|0.41236 1.265|1.265 0.34304|0.34304 D|D 0.684693|0.684693 D;P;P;P|. 0.53312|. 0.959;0.8;0.949;0.901|. P;B;P;B|. 0.55055|. 0.767;0.392;0.655;0.338|. T|T 0.49000|0.49000 -0.8984|-0.8984 10|5 0.10377|. T|. 0.69|. .|. 7.3656|7.3656 0.26770|0.26770 0.0:0.1979:0.1207:0.6814|0.0:0.1979:0.1207:0.6814 .|. 1481;1063;1246;1066|. P39060;D3DSM4;P39060-1;P39060-2|. COIA1_HUMAN;.;.;.|. K|K 1066;1066;1246;1481;1481;414|62 ENSP00000383191:N1066K;ENSP00000347665:N1246K;ENSP00000352798:N1481K;ENSP00000339118:N414K|. ENSP00000339118:N414K|. N|T +|+ 3|2 2|0 COL18A1|COL18A1 45750290|45750290 0.000000|0.000000 0.05858|0.05858 0.001000|0.001000 0.08648|0.08648 0.156000|0.156000 0.22039|0.22039 -1.776000|-1.776000 0.01781|0.01781 -1.191000|-1.191000 0.02695|0.02695 -0.658000|-0.658000 0.03865|0.03865 AAC|ACG TCGA-F2-6879-01A-11D-2154-08 COL18A1-201 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000206827.1 1 0 1 117 336 0 62 1 1 4 190 0 62 2 0 0 0 0 1 2 1 1.000000 117 331 0 59 2 -3.143212 1 1 0 0 1 1 2 3 2.119469 0 0.670000 1.870000 0.672196 0.770000 6.500000e-01 0.920000 0.770000 0.780665 0.770000 0 7.100000e-01 8.400000e-01 OSBPL6 114880 broad.mit.edu 37 2 179193055 179193055 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:179193055G>A ENST00000190611.4 + 5 644 c.268G>A c.(268-270)Gag>Aag p.E90K OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGACAAACATGAGGGCTTTAT 0.378000 0 SO:0001583 missense ENST00000190611.4 1 1 hg19 CCDS2277.1 . . . . . . . . . . G 28.7 4.939758 0.92526 . . ENSG00000079156 ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022 T;T;T;T;T;T;T 0.14893 2.55;2.51;2.47;2.53;2.54;2.51;2.56 5.49 5.49 0.81192 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.000000 0.85682 D 0.000000 T 0.38427 0.1040 L 0.60957 1.885 0.80722 D 1 B;D;D;D;D;D 0.76494 0.421;0.999;0.996;0.999;0.997;0.998 B;D;D;D;D;D 0.83275 0.399;0.993;0.981;0.996;0.98;0.991 T 0.03695 -1.1012 10 0.15952 T 0.53 -18.931 19.3787 0.94523 0.0:0.0:1.0:0.0 . 90;69;90;90;90;90 Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84 .;.;.;.;OSBL6_HUMAN;. K 90;90;90;90;90;90;69 ENSP00000376293:E90K;ENSP00000352713:E90K;ENSP00000349591:E90K;ENSP00000387248:E90K;ENSP00000190611:E90K;ENSP00000386885:E90K;ENSP00000318723:E69K ENSP00000190611:E90K E + 1 0 OSBPL6 178901301 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 9.869000 0.99810 2.577000 0.86979 0.655000 0.94253 GAG TCGA-F2-6879-01A-11D-2154-08 OSBPL6-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000334393.2 1 0 0 28 402 0 23 0 0 0 1 0 23 2 0 0 0 0 0 2 1 1.000000 28 396 0 23 2 -3.318774 1 1 0 0 1 0 0 0 2.057908 0 0.670000 1.870000 0.665518 0.190000 1.200000e-01 0.270000 0.190000 0.197472 0.190000 0 1.500000e-01 2.300000e-01 ZDBF2 57683 broad.mit.edu 37 2 207174767 207174767 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:207174767G>A ENST00000374423.3 + 5 5901 c.5515G>A c.(5515-5517)Gat>Aat p.D1839N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 95 AATGAGAGAAGATGACATAAA 0.413000 0 SO:0001583 missense ENST00000374423.3 1 1 hg19 CCDS46501.1 . . . . . . . . . . G 22.0 4.233468 0.79688 . . ENSG00000204186 ENST00000374423 T 0.71934 -0.61 5.48 4.56 0.56223 . . . . . T 0.63663 0.2530 L 0.53249 1.67 0.32979 D 0.523413 P 0.46859 0.885 B 0.37601 0.254 T 0.73329 -0.4017 9 0.46703 T 0.11 . 12.884 0.58032 0.0832:0.0:0.9168:0.0 . 1839 Q9HCK1 ZDBF2_HUMAN N 1839 ENSP00000363545:D1839N ENSP00000363545:D1839N D + 1 0 ZDBF2 206883012 1.000000 0.71417 0.998000 0.56505 0.954000 0.61252 3.969000 0.56816 1.244000 0.43870 0.551000 0.68910 GAT TCGA-F2-6879-01A-11D-2154-08 ZDBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336458.1 1 0 1 80 154 0 19 0 0 0 1 0 19 2 0 0 0 0 0 2 1 1.000000 80 152 0 19 2 -20.000000 1 1 0 0 1 0 0 0 2.057908 0 0.670000 1.870000 0.665518 0.990000 8.200000e-01 1.000000 1.000000 0.967908 0.990000 1 9.100000e-01 1 IGSF10 285313 broad.mit.edu 37 3 151160955 151160955 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:151160955C>T ENST00000282466.3 - 5 5779 c.5780G>A c.(5779-5781)cGa>cAa p.R1927Q IGSF10_ENST00000495443.1_5'Flank NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TACTACTCTTCGCTCCGAACC 0.433000 0 SO:0001583 missense ENST00000282466.3 1 1 hg19 CCDS3160.1 . . . . . . . . . . C 17.32 3.360817 0.61403 0.0 1.16E-4 ENSG00000152580 ENST00000282466;ENST00000544042 T 0.66099 -0.19 5.01 4.1 0.47936 Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.51477 D 0.000082 T 0.72503 0.3468 L 0.48642 1.525 0.38886 D 0.957016 D 0.89917 1.0 D 0.91635 0.999 T 0.73251 -0.4042 9 . . . . 14.9921 0.71396 0.0:0.8565:0.1435:0.0 . 1927 Q6WRI0 IGS10_HUMAN Q 1927;554 ENSP00000282466:R1927Q . R - 2 0 IGSF10 152643645 0.976000 0.34144 0.759000 0.31340 0.552000 0.35366 4.862000 0.62976 1.055000 0.40461 0.591000 0.81541 CGA TCGA-F2-6879-01A-11D-2154-08 IGSF10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357782.1 1 0 1 233 473 0 64 0 1.092394e-01 1 1 0 64 2 0 0 0 0 0 2 1 1.000000 227 467 0 62 2 -20.000000 1 1 121412 13 44 1 1 2 3 2.107791 0 0.670000 1.870000 0.671102 0.980000 8.800000e-01 1.000000 1.000000 0.972819 0.980000 1 9.300000e-01 1 SAMD7 344658 broad.mit.edu 37 3 169644398 169644398 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:169644398C>T ENST00000428432.2 + 6 737 c.348C>T c.(346-348)ccC>ccT p.P116P SAMD7_ENST00000335556.3_Silent_p.P116P NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AAATTAATCCCAAGGGACTAG 0.478000 0 SO:0001819 synonymous_variant ENST00000428432.2 1 1 hg19 CCDS3209.1 TCGA-F2-6879-01A-11D-2154-08 SAMD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351959.1 1 0 1 136 304 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 1.000000 134 298 0 30 2 -10.366950 1 1 0 0 1 1 2 3 2.107791 0 0.670000 1.870000 0.671102 0.920000 7.900000e-01 1.000000 1.000000 0.922554 0.920000 1 8.500000e-01 9.900000e-01 CPN2 1370 broad.mit.edu 37 3 194062372 194062372 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:194062372G>A ENST00000323830.3 - 2 1149 c.1060C>T c.(1060-1062)Cca>Tca p.P354S CPN2_ENST00000429275.1_Missense_Mutation_p.P354S NM_001080513.2 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) AAGAGGGCTGGGTGCAGCGCC 0.562000 0 SO:0001583 missense ENST00000323830.3 1 1 hg19 CCDS33920.1 . . . . . . . . . . G 0.420 -0.908595 0.02434 . . ENSG00000178772 ENST00000323830;ENST00000429275 T;T 0.23950 1.88;1.88 5.56 0.155 0.14906 . 0.211850 0.24065 N 0.041861 T 0.11239 0.0274 N 0.17474 0.49 0.09310 N 1 B 0.17667 0.023 B 0.20577 0.03 T 0.35919 -0.9769 10 0.08179 T 0.78 . 6.8929 0.24241 0.0642:0.3887:0.3736:0.1736 . 354 P22792 CPN2_HUMAN S 354 ENSP00000319464:P354S;ENSP00000402232:P354S ENSP00000319464:P354S P - 1 0 CPN2 195544067 0.034000 0.19679 0.024000 0.17045 0.784000 0.44337 -0.044000 0.12023 0.080000 0.16959 0.655000 0.94253 CCA TCGA-F2-6879-01A-11D-2154-08 CPN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342856.2 1 0 1 108 211 0 45 0 0 0 1 0 45 2 0 0 0 0 0 2 1 1.000000 104 202 0 45 2 -11.615470 1 1 0 0 1 1 2 3 2.139295 0 0.670000 1.870000 0.674364 0.990000 8.600000e-01 1.000000 1.000000 0.979953 0.990000 1 9.400000e-01 1 ZNF662 389114 broad.mit.edu 37 3 42950359 42950359 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:42950359C>T ENST00000541208.1 + 3 478 c.109C>T c.(109-111)Cgg>Tgg p.R37W KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W Q6ZS27 ZN662_HUMAN zinc finger protein 662 15 CTCGGTTCCTCGGGGAGCTCT 0.542000 0 SO:0001583 missense ENST00000541208.1 1 1 hg19 CCDS2708.1 2 9.157509157509158E-4 1 0.0020325203252032522 0 0.0 1 0.0017482517482517483 0 0.0 C 1.020 -0.685146 0.03328 0.0 1.16E-4 ENSG00000182983 ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021 T;T;T 0.08546 3.08;3.12;3.08 3.08 0.535 0.17133 Krueppel-associated box (1); . . . . T 0.12817 0.0311 M 0.82823 2.61 0.09310 N 1 B;B 0.10296 0.003;0.001 B;B 0.04013 0.001;0.0 T 0.20907 -1.0261 9 0.37606 T 0.19 . 9.101 0.36669 0.0:0.7309:0.0:0.2691 . 97;37 F8W7S8;Q6ZS27 .;ZN662_HUMAN W 37;97;37;37 ENSP00000405047:R37W;ENSP00000329264:R97W;ENSP00000446208:R37W ENSP00000329264:R97W R + 1 2 ZNF662 42925363 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 -0.072000 0.11486 -0.317000 0.08677 -1.134000 0.01955 CGG TCGA-F2-6879-01A-11D-2154-08 ZNF662-201 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256646.4 1 0 0 166 365 0 31 0 3.719609e-01 1 3 0 31 2 0 0 0 0 0 2 1 1.000000 166 360 0 30 2 -12.661240 1 1 121380 6 40 1 1 2 3 2.102732 0 0.670000 1.870000 0.671102 0.930000 8.100000e-01 1.000000 1.000000 0.932642 0.930000 1 8.700000e-01 1 ARSI 340075 broad.mit.edu 37 5 149677192 149677192 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:149677192C>T ENST00000328668.7 - 2 1874 c.1295G>A c.(1294-1296)gGc>gAc p.G432D NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCGCCATAGCCGGGGTCTCC 0.657000 0 SO:0001583 missense ENST00000328668.7 1 1 hg19 CCDS34275.1 . . . . . . . . . . C 17.81 3.481846 0.63849 . . ENSG00000183876 ENST00000328668;ENST00000515301 D;D 0.98313 -4.86;-4.86 4.45 4.45 0.53987 Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.98147 0.9388 L 0.43598 1.365 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97760 1.0220 10 0.27785 T 0.31 . 17.2703 0.87099 0.0:1.0:0.0:0.0 . 432 Q5FYB1 ARSI_HUMAN D 432;289 ENSP00000333395:G432D;ENSP00000426879:G289D ENSP00000333395:G432D G - 2 0 ARSI 149657385 1.000000 0.71417 0.899000 0.35326 0.734000 0.41952 7.320000 0.79064 2.296000 0.77279 0.561000 0.74099 GGC TCGA-F2-6879-01A-11D-2154-08 ARSI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000373681.1 1 0 1 138 235 0 41 0 9.664080e-01 0 12 0 41 2 0 0 0 0 0 2 1 1.000000 136 234 0 40 2 -20.000000 1 1 0 0 1 1 2 3 2.125628 0 0.670000 1.870000 0.672196 0.990000 9.600000e-01 1.000000 1.000000 0.997940 0.990000 1 9.900000e-01 1 FLT4 2324 broad.mit.edu 37 5 180039610 180039610 + Splice_Site SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:180039610G>A ENST00000261937.6 - 26 3511 c.3433C>T c.(3433-3435)Cgc>Tgc p.R1145C FLT4_ENST00000502649.1_Splice_Site_p.R1145C|FLT4_ENST00000393347.3_Splice_Site_p.R1145C NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) ATGATGCGGCGTCTGCAGGAT 0.667000 Colon(97;1075 1466 27033 27547 35871) 0 SO:0001630 splice_region_variant ENST00000261937.6 1 0 hg19 CCDS4457.1 . . . . . . . . . . g 14.52 2.561024 0.45590 . . ENSG00000037280 ENST00000261937;ENST00000393347;ENST00000502649 D;D;D 0.82984 -1.67;-1.67;-1.67 3.57 3.57 0.40892 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); . . . . T 0.81683 0.4874 L 0.35487 1.065 0.52501 D 0.999952 D;D 0.61697 0.99;0.99 P;P 0.61658 0.892;0.892 T 0.81304 -0.0993 9 0.87932 D 0 . 4.5402 0.12054 0.3012:0.0:0.6988:0.0 . 1145;1145 E9PD35;P35916 .;VGFR3_HUMAN C 1145 ENSP00000261937:R1145C;ENSP00000377016:R1145C;ENSP00000426057:R1145C ENSP00000261937:R1145C R - 1 0 FLT4 179972216 1.000000 0.71417 0.961000 0.40146 0.110000 0.19582 5.246000 0.65411 2.011000 0.59026 0.457000 0.33378 CGC TCGA-F2-6879-01A-11D-2154-08 FLT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253527.4 1 0 0 18 308 0 26 0 1.728918e-01 0 13 0 26 2 0 0 0 0 0 2 1 0.999983 16 308 0 26 2 -19.702080 1 1 121412 7 39 1 1 2 3 2.125628 0 0.670000 1.870000 0.672196 0.160000 9.000000e-02 0.270000 0.160000 0.181908 0.160000 0 1.200000e-01 2.100000e-01 ZFR 51663 broad.mit.edu 37 5 32364367 32364367 + Silent SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:32364367T>C ENST00000265069.8 - 18 2952 c.2850A>G c.(2848-2850)ctA>ctG p.L950L ZFR_ENST00000510369.1_5'UTR NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 32 CTTTCTCTACTAGTAACTCCA 0.343000 0 SO:0001819 synonymous_variant ENST00000265069.8 1 1 hg19 CCDS34139.1 TCGA-F2-6879-01A-11D-2154-08 ZFR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366586.1 1 0 1 140 225 0 44 1 1 52 104 0 44 2 0 0 0 0 0 2 1 1.000000 140 223 0 44 2 -20.000000 1 1 0 0 1 0 1 1 2.079448 0 0.670000 1.870000 0.668891 0.990000 9.800000e-01 1.000000 1.000000 0.999181 0.990000 1 9.900000e-01 1 EGFLAM 133584 broad.mit.edu 37 5 38337656 38337656 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:38337656C>T ENST00000354891.3 + 2 478 c.132C>T c.(130-132)ggC>ggT p.G44G EGFLAM_ENST00000322350.5_Silent_p.G44G NM_001205301.1 NP_001192230.1 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 85 all_lung(31;0.000385) TCAAGCTGGGCGCATTGAACT 0.512000 Colon(62;485 1295 3347 17454) 0 SO:0001819 synonymous_variant ENST00000354891.3 1 1 hg19 CCDS56363.1 TCGA-F2-6879-01A-11D-2154-08 EGFLAM-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000367323.1 1 0 1 13 50 0 10 0 6.501796e-01 0 10 0 10 2 0 0 0 0 0 2 1 0.999660 13 48 0 10 2 -19.999950 1 1 121374 1 25 1 1 2 3 2.114355 0 0.670000 1.870000 0.671102 0.620000 3.600000e-01 0.960000 0.620000 0.639235 0.620000 0 4.800000e-01 7.900000e-01 ADAMTS16 170690 broad.mit.edu 37 5 5303737 5303737 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:5303737G>A ENST00000274181.7 + 20 3182 c.3044G>A c.(3043-3045)aGc>aAc p.S1015N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 107 GCCTGTAAGAGCACCAACCCC 0.627000 0 SO:0001583 missense ENST00000274181.7 1 1 hg19 CCDS43299.1 . . . . . . . . . . G 18.74 3.689063 0.68271 . . ENSG00000145536 ENST00000274181 T 0.55234 0.53 4.65 3.78 0.43462 . 0.049330 0.85682 D 0.000000 T 0.45236 0.1332 L 0.40543 1.245 0.38037 D 0.93534 B;P 0.35033 0.241;0.481 B;B 0.41088 0.244;0.347 T 0.36696 -0.9737 10 0.17832 T 0.49 . 10.7639 0.46281 0.0945:0.0:0.9055:0.0 . 1015;1015 Q8TE57;Q8TE57-2 ATS16_HUMAN;. N 1015 ENSP00000274181:S1015N ENSP00000274181:S1015N S + 2 0 ADAMTS16 5356737 1.000000 0.71417 1.000000 0.80357 0.817000 0.46193 3.713000 0.54882 1.069000 0.40788 0.650000 0.86243 AGC TCGA-F2-6879-01A-11D-2154-08 ADAMTS16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365657.1 0 0 0 10 246 0 44 0 1.975397e-03 0 2 0 44 2 0 0 0 0 0 2 1 0.996596 10 239 0 44 2 -11.737130 1 1 0 0 1 0 1 1 2.079448 0 0.670000 1.870000 0.668891 0.110000 5.000000e-02 0.200000 0.120000 0.126600 0.110000 0 8.000000e-02 1.600000e-01 TCTE1 202500 broad.mit.edu 37 6 44254103 44254103 + Silent SNP G G A rs146051785 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:44254103G>A ENST00000371505.4 - 3 566 c.444C>T c.(442-444)ggC>ggT p.G148G RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCAGCTGCCGCCATGGTGGG 0.607000 0 SO:0001819 synonymous_variant ENST00000371505.4 1 1 hg19 CCDS4910.1 TCGA-F2-6879-01A-11D-2154-08 TCTE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040736.1 1 0 0 221 291 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 1.000000 218 286 0 28 2 -20.000000 1 1 121412 6 39 1 1 2 3 2.443262 1 0.670000 1.870000 0.709852 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 RIMS1 22999 broad.mit.edu 37 6 73043409 73043409 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:73043409G>A ENST00000521978.1 + 29 4237 c.4237G>A c.(4237-4239)Ggc>Agc p.G1413S RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1262S NM_014989.5 NP_055804.2 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCATAATGACGGCAGCCAGTC 0.522000 0 SO:0001583 missense ENST00000521978.1 0 1 hg19 CCDS47449.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 35|35 5.444142|5.444142 0.96187|0.96187 .|. .|. ENSG00000079841|ENSG00000079841 ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433 T;T;T;T;T;T;T;T;T|. 0.22945|. 2.22;2.42;2.34;2.42;2.26;2.34;2.23;1.94;1.93|. 5.66|5.66 5.66|5.66 0.87406|0.87406 .|. 0.000000|. 0.64402|. D|. 0.000004|. T|T 0.64821|0.64821 0.2633|0.2633 L|L 0.50333|0.50333 1.59|1.59 0.80722|0.80722 D|D 1|1 D;D;D;D;D;D;D|. 0.89917|. 0.999;1.0;0.985;1.0;1.0;1.0;1.0|. D;D;P;D;D;D;D|. 0.91635|. 0.94;0.996;0.681;0.998;0.999;0.999;0.994|. T|T 0.58825|0.58825 -0.7568|-0.7568 10|5 0.62326|. D|. 0.03|. -22.5976|-22.5976 20.1225|20.1225 0.97967|0.97967 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 219;1262;733;1196;489;1236;1413|. B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|. .;.;.;.;.;.;RIMS1_HUMAN|. S|Q 1236;1262;1236;1196;1262;1196;1413;733;578;461;219|758 ENSP00000430101:G1236S;ENSP00000275037:G1196S;ENSP00000264839:G1262S;ENSP00000429959:G1196S;ENSP00000428417:G1413S;ENSP00000385649:G733S;ENSP00000389503:G578S;ENSP00000359448:G461S;ENSP00000439730:G219S|. ENSP00000264839:G1262S|. G|R +|+ 1|2 0|0 RIMS1|RIMS1 73100130|73100130 1.000000|1.000000 0.71417|0.71417 0.987000|0.987000 0.45799|0.45799 0.994000|0.994000 0.84299|0.84299 9.813000|9.813000 0.99286|0.99286 2.831000|2.831000 0.97527|0.97527 0.650000|0.650000 0.86243|0.86243 GGC|CGG TCGA-F2-6879-01A-11D-2154-08 RIMS1-011 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374968.1 1 0 1 17 21 0 11 0 0 0 0 11 2 0 0 0 0 0 2 1 0.999995 17 21 0 10 2 -20.000000 1 1 0 0 1 0 1 1 1.412667 1 0.670000 1.870000 0.503759 0.820000 5.600000e-01 0.990000 0.870000 0.819524 0.820000 0 6.900000e-01 9.400000e-01 ZFPM2 23414 broad.mit.edu 37 8 106815014 106815014 + Nonsense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:106815014C>T ENST00000407775.2 + 8 2954 c.2704C>T c.(2704-2706)Cga>Tga p.R902* ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 p.R902*(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAAAGCGAACGAAACAGCCC 0.458000 1 Substitution - Nonsense(1) SO:0001587 stop_gained ENST00000407775.2 0 1 hg19 CCDS47908.1 . . . . . . . . . . C 37 5.984063 0.97173 . . ENSG00000169946 ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472 . . . 5.57 3.73 0.42828 . 0.176149 0.51477 D 0.000099 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.07644 T 0.81 . 14.4956 0.67685 0.5405:0.4595:0.0:0.0 . . . . X 902;770;770;633 . ENSP00000367733:R633X R + 1 2 ZFPM2 106884190 1.000000 0.71417 0.973000 0.42090 0.869000 0.49853 1.600000 0.36762 0.663000 0.31027 -0.284000 0.09977 CGA TCGA-F2-6879-01A-11D-2154-08 ZFPM2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380614.1 1 0 0 41 109 0 15 0 9.706830e-01 0 18 0 15 2 0 0 0 0 0 2 1 1.000000 41 106 0 15 2 -20.000000 1 1 0 0 1 1 2 3 2.726968 1 0.670000 1.870000 0.750303 0.990000 8.100000e-01 1.000000 1.000000 0.977886 0.990000 1 9.400000e-01 1 TRHR 7201 broad.mit.edu 37 8 110131289 110131289 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:110131289C>T ENST00000518632.1 + 3 1153 c.802C>T c.(802-804)Ctg>Ttg p.L268L TRHR_ENST00000311762.2_Silent_p.L268L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CACCAAGATGCTGGCAGTGGT 0.418000 0 SO:0001819 synonymous_variant ENST00000518632.1 1 1 hg19 CCDS6311.1 TCGA-F2-6879-01A-11D-2154-08 TRHR-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380892.1 1 0 1 477 1485 0 131 0 0 0 0 131 2 0 0 0 0 0 2 1 1.000000 461 1448 0 128 2 -20.000000 1 1 0 0 1 1 2 3 2.726968 1 0.670000 1.870000 0.750303 0.950000 8.700000e-01 1.000000 1.000000 0.957841 0.950000 1 9.100000e-01 1 KLHL38 340359 broad.mit.edu 37 8 124664206 124664206 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:124664206G>A ENST00000325995.7 - 1 984 c.961C>T c.(961-963)Cgg>Tgg p.R321W CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 38 TTGTACAGCCGTGTCGGGAGT 0.592000 0 SO:0001583 missense ENST00000325995.7 1 1 hg19 CCDS43766.1 . . . . . . . . . . G 12.56 1.974222 0.34848 2.48E-4 1.2E-4 ENSG00000175946 ENST00000325995 T 0.67523 -0.27 5.18 4.3 0.51218 Kelch-type beta propeller (1); 0.000000 0.85682 D 0.000000 T 0.78597 0.4308 M 0.81802 2.56 0.52501 D 0.999951 D 0.71674 0.998 P 0.60949 0.881 T 0.79978 -0.1575 10 0.49607 T 0.09 . 11.7522 0.51855 0.0:0.1336:0.7277:0.1387 . 321 Q2WGJ6 KLH38_HUMAN W 321 ENSP00000321475:R321W ENSP00000321475:R321W R - 1 2 KLHL38 124733387 1.000000 0.71417 0.702000 0.30337 0.211000 0.24417 5.438000 0.66550 1.290000 0.44636 -0.314000 0.08810 CGG TCGA-F2-6879-01A-11D-2154-08 KLHL38-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381288.1 1 0 1 112 322 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 1.000000 111 319 0 21 2 -3.319442 1 1 120944 12 43 1 1 2 3 2.726968 1 0.670000 1.870000 0.750303 0.990000 8.500000e-01 1.000000 1.000000 0.977237 0.990000 1 9.300000e-01 1 MSR1 4481 broad.mit.edu 37 8 15967630 15967630 + Silent SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 T C T T Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:15967630T>C ENST00000262101.5 - 10 1441 c.1320A>G c.(1318-1320)tcA>tcG p.S440S MSR1_ENST00000350896.3_Silent_p.S377S|MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000445506.2_Silent_p.S458S P21757 MSRE_HUMAN macrophage scavenger receptor 1 37 CTTCAGAATGTGAACAGGCTC 0.378000 0 SO:0001819 synonymous_variant ENST00000262101.5 1 1 hg19 CCDS5995.1 TCGA-F2-6879-01A-11D-2154-08 MSR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000211627.2 1 0 1 179 161 0 67 0 1 0 42 0 67 2 0 0 0 0 0 2 1 1.000000 179 159 0 66 2 -20.000000 1 1 0 0 1 0 1 1 1.474836 1 0.670000 1.870000 0.506247 0.980000 9.000000e-01 1.000000 1.000000 0.979245 0.980000 1 9.400000e-01 1 TMEM67 91147 broad.mit.edu 37 8 94767364 94767364 + Splice_Site SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:94767364A>G ENST00000453321.3 + 1 280 c.222A>G c.(220-222)cgA>cgG p.R74R TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AAGATGCCCGAGGTAAGACGG 0.552000 0 SO:0001630 splice_region_variant ENST00000453321.3 1 0 hg19 CCDS6258.2 . . . . . . . . . . A 11.94 1.787392 0.31593 . . ENSG00000164953 ENST00000521517 D 0.92699 -3.09 5.35 0.149 0.14863 . 0.907118 0.09652 N 0.773578 D 0.91129 0.7207 . . . 0.80722 D 1 . . . . . . D 0.84821 0.0796 7 0.56958 D 0.05 1.5014 4.9979 0.14249 0.5177:0.1558:0.3265:0.0 . . . . G 72 ENSP00000430740:R72G ENSP00000427947:R73G R + 1 2 TMEM67 94836540 0.805000 0.28982 0.152000 0.22495 0.824000 0.46624 0.741000 0.26202 -0.097000 0.12307 0.477000 0.44152 AGG TCGA-F2-6879-01A-11D-2154-08 TMEM67-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329641.2 1 0 1 289 340 0 84 1 9.994935e-01 5 12 0 84 2 0 0 0 0 0 2 1 1.000000 285 334 0 80 2 -20.000000 1 1 0 0 1 1 2 3 2.726968 1 0.670000 1.870000 0.750303 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 COL5A1 1289 broad.mit.edu 37 9 137674564 137674564 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:137674564C>T ENST00000371817.3 + 29 2896 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 115 Myeloproliferative disorder(178;0.0341) CAAGGGTGATCGGGTGAGCAT 0.587000 0 SO:0001583 missense ENST00000371817.3 1 1 hg19 CCDS6982.1 2 9.157509157509158E-4 0 0.0 2 0.0055248618784530384 0 0.0 0 0.0 C 18.35 3.605486 0.66445 0.0 1.16E-4 ENSG00000130635 ENST00000371817 D 0.97041 -4.22 4.18 3.11 0.35812 . 0.064543 0.64402 U 0.000016 D 0.97300 0.9117 M 0.85859 2.78 0.58432 D 0.999998 D 0.89917 1.0 D 0.83275 0.996 D 0.95502 0.8578 10 0.72032 D 0.01 . 8.9457 0.35758 0.4494:0.5506:0.0:0.0 . 828 P20908 CO5A1_HUMAN W 828 ENSP00000360882:R828W ENSP00000360882:R828W R + 1 2 COL5A1 136814385 0.811000 0.29063 0.958000 0.39756 0.800000 0.45204 0.973000 0.29422 2.057000 0.61298 0.563000 0.77884 CGG TCGA-F2-6879-01A-11D-2154-08 COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054954.2 1 0 1 213 518 0 77 0 1 0 1156 0 77 2 0 0 0 0 0 2 1 1.000000 206 505 0 75 2 -3.318794 1 1 121410 18 47 1 1 2 3 2.164150 0 0.670000 1.870000 0.675436 0.880000 7.800000e-01 1.000000 0.880000 0.889593 0.880000 1 8.300000e-01 9.400000e-01 AFF2 2334 broad.mit.edu 37 X 148037698 148037698 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:148037698G>A ENST00000370460.2 + 11 2602 c.2123G>A c.(2122-2124)cGg>cAg p.R708Q AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q|AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 109 Acute lymphoblastic leukemia(192;6.56e-05) CCAAAGTCTCGGGAATTCATT 0.488000 0 SO:0001583 missense ENST00000370460.2 1 1 hg19 CCDS14684.1 . . . . . . . . . . G 24.5 4.537272 0.85812 . . ENSG00000155966 ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437 T;T;T;T 0.66460 -0.21;-0.21;-0.21;-0.21 5.67 5.67 0.87782 . 0.059861 0.64402 D 0.000016 D 0.82669 0.5087 M 0.79926 2.475 0.42293 D 0.992149 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 0.71414 0.973;0.954;0.954;0.954;0.954;0.973 T 0.83078 -0.0139 10 0.42905 T 0.14 . 18.7499 0.91810 0.0:0.0:1.0:0.0 . 349;673;675;669;698;708 B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816 .;.;.;.;.;AFF2_HUMAN Q 708;675;675;349 ENSP00000359489:R708Q;ENSP00000359486:R675Q;ENSP00000345459:R675Q;ENSP00000286437:R349Q ENSP00000286437:R349Q R + 2 0 AFF2 147845398 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 5.672000 0.68102 2.372000 0.80975 0.600000 0.82982 CGG TCGA-F2-6879-01A-11D-2154-08 AFF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000058673.2 1 0 1 258 143 0 37 0 4.115634e-01 0 2 0 37 2 0 0 0 0 0 2 1 1.000000 252 140 0 37 2 -20.000000 1 1 0 0 1 0 1 1 0.670000 1.870000 0.670000 0.940000 8.800000e-01 1.000000 0.960000 0.951150 0.940000 1 9.100000e-01 9.800000e-01 CXorf21 80231 broad.mit.edu 37 X 30577625 30577625 + Missense_Mutation SNP A A C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:30577625A>C ENST00000378962.3 - 3 1170 c.848T>G c.(847-849)aTt>aGt p.I283S NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 20 AATTTCAGTAATTTCAGTTGA 0.383000 0 SO:0001583 missense ENST00000378962.3 0 1 hg19 CCDS14224.1 . . . . . . . . . . A 7.306 0.613922 0.14066 . . ENSG00000120280 ENST00000378962 . . . 5.11 5.11 0.69529 . 0.662303 0.11137 U 0.595712 T 0.35913 0.0948 N 0.12182 0.205 0.33979 D 0.647716 P 0.49783 0.928 P 0.49226 0.603 T 0.08046 -1.0741 9 0.02654 T 1 . 13.9975 0.64411 1.0:0.0:0.0:0.0 . 283 Q9HAI6 CX021_HUMAN S 283 . ENSP00000368245:I283S I - 2 0 CXorf21 30487546 1.000000 0.71417 0.999000 0.59377 0.772000 0.43724 8.322000 0.90000 1.880000 0.54463 0.417000 0.27973 ATT TCGA-F2-6879-01A-11D-2154-08 CXorf21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056164.1 0 0 0 5 205 0 24 0 1.262471e-02 0 6 0 24 2 0 0 0 0 0 2 1 0.935095 5 201 0 24 2 -7.111466 1 0 0 0 1 0 1 1 0.670000 1.870000 0.670000 0.030000 0 0.080000 0.040000 0.042134 0.030000 0 2.000000e-02 6.000000e-02