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 UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut APOB 338 broad.mit.edu 37 2 21263858 21263858 + Missense_Mutation SNP A A C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr2:21263858A>C ENST00000233242.1 - 4 462 c.335T>G c.(334-336)tTg>tGg p.L112W APOB_ENST00000399256.4_Missense_Mutation_p.L112W NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 112 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTCTTCAGCAAGGCTTTGCC 0.527000 5 18 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33933502 33933502 + Silent SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr9:33933502G>A ENST00000379238.1 - 18 2211 c.2094C>T c.(2092-2094)ctC>ctT p.L698L UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 698 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TAAGCTGAGAGAGAGGGCTGC 0.592000 7 20 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639254 149639254 + Missense_Mutation SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:149639254A>G ENST00000370401.2 + 4 1719 c.1409A>G c.(1408-1410)cAg>cGg p.Q470R MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R Q13495 MAMD1_HUMAN mastermind-like domain containing 1 470 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GGCTTGCCACAGCAGTCCTTC 0.592000 13 107 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140481350 140481350 + Missense_Mutation SNP C C G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr5:140481350C>G ENST00000231130.2 + 1 1117 c.1117C>G c.(1117-1119)Cta>Gta p.L373V AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 373 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTTCTGATCTAGACTCTGG 0.458000 11 42 0 0 1 0 0 CBLN4 140689 broad.mit.edu 37 20 54573643 54573643 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr20:54573643C>T ENST00000064571.2 - 3 1876 c.576G>A c.(574-576)acG>acA p.T192T NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 192 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) AGCCAGAAAACGTGGAATACT 0.443000 15 90 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129784846 129784846 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr11:129784846G>A ENST00000358825.5 - 18 2837 c.2606C>T c.(2605-2607)aCa>aTa p.T869I PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 869 Thr-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGTCAGTGGTGTGTGTATGGT 0.512000 42 71 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47219549 47219549 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:47219549C>T ENST00000433867.1 - 2 556 c.79G>A c.(79-81)Gag>Aag p.E27K PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 27 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GACTGCAGCTCTAGGCCGCCG 0.741000 4 30 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324409 24324409 + Missense_Mutation SNP C C A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr8:24324409C>A ENST00000175238.6 + 6 570 c.487C>A c.(487-489)Ccg>Acg p.P163T RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 163 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CCTGAGGGTGCCGTATGGTGC 0.393000 4 113 1 1 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92734114 92734114 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:92734114C>T ENST00000379958.2 - 3 1566 c.1297G>A c.(1297-1299)Gaa>Aaa p.E433K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 433 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CATTTAATTTCCTTCAGGAAA 0.353000 17 17 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 78 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94041967 94041967 + Silent SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:94041967T>C ENST00000297268.6 + 25 1947 c.1476T>C c.(1474-1476)atT>atC p.I492I NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 492 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGCAACATTGGATTCCCTG 0.498000 HNSCC(75;0.22) 5 27 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20215787 20215787 + Silent SNP T T A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr3:20215787T>A ENST00000412997.1 - 6 1587 c.1236A>T c.(1234-1236)acA>acT p.T412T SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 412 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 CTTTTTCATCTGTGTATTTCA 0.403000 21 100 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101119 27101119 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:27101119C>T ENST00000324856.7 + 18 4772 c.4401C>T c.(4399-4401)ccC>ccT p.P1467P ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1467 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCTCTGCACCCCCTGGCACCA 0.612000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 9 79 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52901729 52901729 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr15:52901729T>C ENST00000261844.7 - 6 1534 c.1382A>G c.(1381-1383)gAc>gGc p.D461G FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 461 AGAATAAAAGTCATTAGAAAT 0.413000 9 68 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338418 122338418 + Missense_Mutation SNP G G C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:122338418G>C ENST00000340112.2 - 1 792 c.555C>G c.(553-555)atC>atG p.I185M CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 185 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GATTCATCCAGATGATGTGCT 0.373000 27 122 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10107547 10107547 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:10107547G>A ENST00000380861.4 + 22 3570 c.3179G>A c.(3178-3180)aGc>aAc p.S1060N WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 1060 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGTGGGCAGAGCCACAAAGAG 0.582000 16 73 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24890933 24890933 + Nonsense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr10:24890933G>A ENST00000396432.2 - 13 3307 c.2821C>T c.(2821-2823)Cga>Tga p.R941* ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728* NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 940 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 ACAAGGGGTCGGAAATGAAGC 0.478000 39 29 0 0 1 0 0 MSRA 4482 broad.mit.edu 37 8 9912035 9912035 + Silent SNP G G C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr8:9912035G>C ENST00000317173.4 + 1 258 c.9G>C c.(7-9)tcG>tcC p.S3S MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S NM_012331.3 NP_036463.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 3 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) CCATGCTCTCGGCCACCCGGA 0.726000 3 38 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 93 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41575698 41575698 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr8:41575698C>T ENST00000396942.1 - 11 1215 c.1132G>A c.(1132-1134)Gcc>Acc p.A378T ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T P16157 ANK1_HUMAN ankyrin 1, erythrocytic 378 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTTTTGCAGGCGATGTGTAAG 0.592000 4 63 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100374723 100374723 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr10:100374723G>A ENST00000370552.3 - 9 1317 c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 420 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AATGAGTGCCGTATCACGACA 0.398000 13 78 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 37 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271196 140271196 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:140271196T>C ENST00000370526.2 - 1 114 c.11A>G c.(10-12)gAg>gGg p.E4G LDOC1_ENST00000460721.1_5'UTR NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 4 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) CAGCACCAACTCATCCACCAT 0.662000 5 18 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927680 23927680 + Silent SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:23927680T>C ENST00000402377.3 - 4 813 c.672A>G c.(670-672)aaA>aaG p.K224K ZNF681_ENST00000395385.3_Silent_p.K155K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 224 K -> R (in Ref. 1; BAG53769). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATATGTACGATTTCTCTCCAA 0.328000 9 15 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17056281 17056281 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr3:17056281C>T ENST00000418129.2 + 3 2983 c.2518C>T c.(2518-2520)Cgc>Tgc p.R840C PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 966 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGTGTCTCCCCGCTTTCTGGG 0.537000 26 140 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10786670 10786670 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr12:10786670T>C ENST00000075503.3 - 4 626 c.106A>G c.(106-108)Atc>Gtc p.I36V NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 36 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 ATGAGGAAGATAGTAACCAAC 0.453000 HNSCC(73;0.22) 83 123 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24793576 24793576 + Silent SNP C C T rs141339113 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr14:24793576C>T ENST00000310677.4 - 16 1958 c.1845G>A c.(1843-1845)acG>acA p.T615T ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 615 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TGATGCTATACGTGATGGCCA 0.567000 11 63 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 24995135 24995135 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr12:24995135G>A ENST00000261192.7 - 7 1224 c.698C>T c.(697-699)gCc>gTc p.A233V BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 233 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TTCACATTGGGCAAAAAGAGA 0.433000 3 39 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61468117 61468117 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr18:61468117C>T ENST00000398019.2 + 7 940 c.615C>T c.(613-615)gtC>gtT p.V205V SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 205 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GGAAGGCAGTCGCCATGATGC 0.368000 14 78 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97051578 97051578 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr6:97051578T>C ENST00000326771.2 + 3 469 c.89T>C c.(88-90)gTt>gCt p.V30A FHL5_ENST00000541107.1_Missense_Mutation_p.V30A NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 30 nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CCATACTGTGTTACATGTTAT 0.353000 3 73 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78055796 78055796 + Missense_Mutation SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr17:78055796A>G ENST00000397545.4 + 12 1955 c.1928A>G c.(1927-1929)aAc>aGc p.N643S CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 643 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) ATGACCTCCAACAAGACCACC 0.612000 5 35 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21964706 21964706 + Missense_Mutation SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr14:21964706A>G ENST00000405508.1 + 10 2084 c.1808A>G c.(1807-1809)gAt>gGt p.D603G TOX4_ENST00000448790.2_Missense_Mutation_p.D580G|TOX4_ENST00000262709.3_Missense_Mutation_p.D603G O94842 TOX4_HUMAN TOX high mobility group box family member 4 603 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TCTCTTAGGGATGTATTCTTG 0.393000 6 77 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 41 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323245 57323245 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr12:57323245C>T ENST00000293502.1 - 3 796 c.653G>A c.(652-654)cGc>cAc p.R218H NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 218 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 CTTTCGCATGCGTGACTCCAG 0.557000 25 63 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116276827 116276827 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr9:116276827G>A ENST00000374140.2 + 16 1776 c.1567G>A c.(1567-1569)Ggg>Agg p.G523R RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 523 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 GAAGGGCCACGGGAACTACCA 0.572000 9 63 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558563 113558563 + Silent SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:113558563T>C ENST00000284601.3 - 1 557 c.489A>G c.(487-489)ttA>ttG p.L163L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 163 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GCCAGTCATCTAAAGACATTC 0.358000 11 38 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53412741 53412741 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr12:53412741C>T ENST00000262056.9 + 3 637 c.311C>T c.(310-312)cCc>cTc p.P104L RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 104 RRM. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 GGAAACCTACCCTATGATGTT 0.423000 8 48 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999831 72999831 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr18:72999831C>T ENST00000322038.5 + 2 2918 c.2334C>T c.(2332-2334)agC>agT p.S778S TSHZ1_ENST00000580243.1_Silent_p.S823S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 823 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TGGTGTCCAGCGTGGCTGATT 0.572000 4 80 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138667250 138667250 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr9:138667250C>T ENST00000298480.5 + 20 2412 c.2338C>T c.(2338-2340)Cgg>Tgg p.R780W KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 780 membrane binding|calcium-activated potassium channel activity p.R780R(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CTGCTGCCTGCGGCTGGACAA 0.642000 6 64 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129190022 129190022 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:129190022T>C ENST00000540052.1 + 12 5091 c.5047T>C c.(5047-5049)Tcc>Ccc p.S1683P BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1683 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCCCCCAGGCTCCTCTGAGAC 0.617000 8 95 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55594964 55594964 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:55594964G>A ENST00000586329.1 + 10 1557 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000201647.6_Intron Q8TE68 ES8L1_HUMAN EPS8-like 1 452 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CGCCTGACCCGACTGTCTTAC 0.716000 3 3 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr17:7578442T>C ENST00000420246.2 - 5 620 c.488A>G c.(487-489)tAc>tGc p.Y163C TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACTGCTTGTAGATGGCCAT 0.622000 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) 43 18 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771700 143771700 + Nonsense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:143771700C>T ENST00000408898.2 + 1 426 c.388C>T c.(388-390)Cga>Tga p.R130* NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CCACCCTCTCCGATATTCTAC 0.463000 40 93 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98256572 98256572 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:98256572C>T ENST00000265634.3 + 4 1149 c.984C>T c.(982-984)gaC>gaT p.D328D NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 328 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.D328D(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CATTCCAGGACGGAGAGAAGC 0.642000 4 54 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 7 0 0 1 0 0 MID1 0 broad.mit.edu 37 X 10442675 10442675 + Missense_Mutation SNP C C G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:10442675C>G ENST00000317552.4 - 6 1529 c.1129G>C c.(1129-1131)Gat>Cat p.D377H MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 377 COS. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 GTAAGGTAATCCAGACATTCT 0.383000 29 50 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154567848 154567848 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr6:154567848G>A ENST00000337049.4 + 4 1236 c.1186G>A c.(1186-1188)Gcc>Acc p.A396T IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000422970.2_Silent_p.G41G NM_001008503.1 NP_001008503.2 P35372 OPRM_HUMAN opioid receptor, mu 1 0 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AGTCAGCATGGCCCAGATCTT 0.433000 34 55 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110497569 110497569 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:110497569C>T ENST00000324068.1 - 3 395 c.228G>A c.(226-228)ggG>ggA p.G76G CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 76 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GCCCCAGTCTCCCTTGGGTCA 0.468000 17 88 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552268 100552268 + Missense_Mutation SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:100552268T>C ENST00000319509.7 + 1 1019 c.1019T>C c.(1018-1020)gTt>gCt p.V340A mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GATCCATGTGTTGAAATGGAT 0.478000 87 296 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436203 248436203 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:248436203G>A ENST00000318021.2 - 1 935 c.914C>T c.(913-915)aCg>aTg p.T305M NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTTTACACACGTCCCCAGCCA 0.423000 75 102 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179238675 179238675 + Missense_Mutation SNP G G A rs149806664 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr2:179238675G>A ENST00000190611.4 + 15 1830 c.1454G>A c.(1453-1455)cGc>cAc p.R485H OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 485 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AATGAGAGCCGCCTCTCCATG 0.483000 10 46 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77663122 77663122 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr13:77663122G>A ENST00000407578.2 - 61 10836 c.10570C>T c.(10570-10572)Cgg>Tgg p.R3524W MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GAGATTAGCCGAGAAAGCTCA 0.363000 8 67 0 0 1 0 0 SPANXC 64663 broad.mit.edu 37 X 140335727 140335727 + Nonsense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:140335727G>A ENST00000358993.2 - 2 255 c.217C>T c.(217-219)Cga>Tga p.R73* NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 73 cytoplasm|nucleus p.R73R(1) large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) CTGTTCTCTCGGGCGTGGTCA 0.443000 33 93 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221934 55221934 + RNA SNP C C A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:55221934C>A ENST00000413439.1 + 0 1461 CCGGGCCCCACGGTGGCCTCA 0.637000 3 33 0.00909568 0.00919455 1 1 0 CACNA1D 776 broad.mit.edu 37 3 53694205 53694205 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr3:53694205C>T ENST00000288139.3 + 5 787 c.669C>T c.(667-669)ggC>ggT p.G223G CACNA1D_ENST00000350061.5_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 223 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AAACAGAAGGCGGGAACCACT 0.458000 17 31 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22379553 22379553 + Translation_Start_Site SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:22379553T>C ENST00000397121.2 - 0 200 NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CAAACACATATATTTACCAAT 0.408000 9 76 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160182 132160182 + Silent SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:132160182A>G ENST00000511190.1 - 6 2536 c.2067T>C c.(2065-2067)ttT>ttC p.F689F USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 689 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GCACTGTTTGAAAGTCAACTT 0.398000 26 72 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117681518 117681518 + Missense_Mutation SNP C C A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr6:117681518C>A ENST00000368508.3 - 22 3630 c.3432G>T c.(3430-3432)aaG>aaT p.K1144N ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1144 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATGTTGTAGACTTTACAACGT 0.413000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 3 34 0.004672 0.00477468 1 1 0 SETDB1 9869 broad.mit.edu 37 1 150933218 150933218 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:150933218G>A ENST00000271640.5 + 16 2870 c.2680G>A c.(2680-2682)Ggt>Agt p.G894S SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 894 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCAACAGCGGTACAGAGGA 0.502000 3 66 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285784 223285784 + Missense_Mutation SNP G G A rs146146738 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:223285784G>A ENST00000540964.1 - 4 1051 c.590C>T c.(589-591)aCg>aTg p.T197M TLR5_ENST00000342210.6_Missense_Mutation_p.T197M O60602 TLR5_HUMAN toll-like receptor 5 197 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AAAGGAGAGCGTTTTCCCTTG 0.428000 10 42 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71493378 71493378 + Missense_Mutation SNP G G A TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr5:71493378G>A ENST00000296755.7 + 5 4494 c.4196G>A c.(4195-4197)cGc>cAc p.R1399H NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1399 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCTCCTTTACGCAGCCCGCCC 0.478000 4 57 0 0 1 0 0 ANXA2 302 broad.mit.edu 37 15 60644017 60644017 + Splice_Site SNP T T C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr15:60644017T>C ENST00000396024.3 - 11 843 c.682_splice c.e11-1 p.V228_splice ANXA2_ENST00000451270.2_Splice_Site_p.V228_splice|ANXA2_ENST00000421017.2_Splice_Site_p.V228_splice|ANXA2_ENST00000332680.4_Splice_Site_p.V246_splice NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 228 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) ACCTATCAAATACTGAGGAAA 0.388000 6 68 0 0 1 0 0 SPAM1 0 broad.mit.edu 37 7 123594538 123594538 + Missense_Mutation SNP G G A rs150235912 byFrequency TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr7:123594538G>A ENST00000340011.5 + 3 1271 c.914G>A c.(913-915)cGc>cAc p.R305H SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 305 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GCATATACCCGCATAGTTTTT 0.388000 4 41 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64947733 64947733 + Missense_Mutation SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chrX:64947733A>G ENST00000360270.5 + 3 326 c.154A>G c.(154-156)Act>Gct p.T52A NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 52 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GTACCAGGACACTAAAGGTTT 0.403000 T ALK ALCL 22 25 0 0 1 0 0 TRMT61B 55006 broad.mit.edu 37 2 29074043 29074043 + Nonsense_Mutation SNP C C A rs147013173 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr2:29074043C>A ENST00000306108.5 - 5 1230 c.1207G>T c.(1207-1209)Gga>Tga p.G403* NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 403 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 GCTAAAATTCCATTTTTCTGT 0.363000 17 32 4.75885e-15 5.08705e-15 1 1 0 ALOX15 246 broad.mit.edu 37 17 4534928 4534928 + Silent SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr17:4534928C>T ENST00000570836.1 - 15 2052 c.1956G>A c.(1954-1956)cgG>cgA p.R652R ALOX15_ENST00000293761.3_Silent_p.R652R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 652 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCACGCTGGGCCGCAGGTACT 0.552000 17 92 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102510228 102510228 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr14:102510228C>T ENST00000360184.4 + 70 12694 c.12530C>T c.(12529-12531)gCc>gTc p.A4177V RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4177 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AACGAGCGTGCCCGCTTGTAC 0.507000 3 50 0 0 1 0 0 DRG1 4733 broad.mit.edu 37 22 31796608 31796608 + Missense_Mutation SNP G G T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr22:31796608G>T ENST00000331457.4 + 2 206 c.45G>T c.(43-45)atG>atT p.M15I DRG1_ENST00000433341.1_3'UTR NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 15 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 CCTTTTAGATGGCTCGGACTC 0.468000 4 55 2.56e-06 2.64533e-06 1 1 0 AC011537.3 0 broad.mit.edu 37 19 15871633 15871633 + RNA SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr19:15871633C>T ENST00000595525.1 + 0 449 CYP4F24P_ENST00000587443.2_RNA ACCTGGGTCCCGCAGAGAAGG 0.552000 6 90 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104030019 104030019 + Missense_Mutation SNP G G C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr4:104030019G>C ENST00000265148.3 - 48 8041 c.7952C>G c.(7951-7953)tCt>tGt p.S2651C CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2651 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.S2614Y(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGATGGTAAAGACTTTGATCG 0.378000 9 74 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44514963 44514963 + Missense_Mutation SNP A A G TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr22:44514963A>G ENST00000338758.6 + 4 382 c.319A>G c.(319-321)Att>Gtt p.I107V PARVB_ENST00000406477.3_Missense_Mutation_p.I140V|PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000402876.3_Missense_Mutation_p.I107V NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 107 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GGAGAGGATCATTGTGAAGCA 0.592000 19 30 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95111508 95111508 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr10:95111508C>T ENST00000371501.4 - 33 3699 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N Q9NZM1 MYOF_HUMAN myoferlin 1193 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCAACTTCATCGAATATAATT 0.413000 10 41 0 0 1 0 0 AC005562.1 0 broad.mit.edu 37 17 28960294 28960294 + RNA SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr17:28960294C>T ENST00000417404.1 + 0 1155 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGCTTCTCAGCGAGCAGCAGG 0.433000 21 28 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131020288 131020288 + Missense_Mutation SNP C C T TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr9:131020288C>T ENST00000421699.2 - 22 2410 c.2398G>A c.(2398-2400)Gcc>Acc p.A800T NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 800 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CCCTGCAGGGCCCGGTGGGTC 0.677000 8 36 0 0 1 0 0 SRXN1 140809 broad.mit.edu 37 20 629365 629365 + Missense_Mutation SNP A A C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr20:629365A>C ENST00000381962.3 - 2 591 c.407T>G c.(406-408)tTg>tGg p.L136W RP5-850E9.3_ENST00000488788.2_3'UTR NM_080725.1 NP_542763.1 Q9BYN0 SRXN1_HUMAN sulfiredoxin 1 136 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 CTGCTACTGCAAGTCTGGTGT 0.612000 9 134 0 0 1 0 0 SNHG12 0 broad.mit.edu 37 1 28906819 28906821 + RNA DEL CAA CAA - rs147786269 TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:28906819_28906821delCAA ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA gactccgtctcaaaaaaaaaaaa 0.493 3 5 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145103950 145103950 + RNA DEL C C - TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr1:145103950delC ENST00000453618.1 + 0 445 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GGCTAAGTAACTCTTTCGAAA 0.393 7 21 --- --- --- --- SERAC1 84947 broad.mit.edu 37 6 158576366 158576366 + Frame_Shift_Del DEL T T - TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14f0de61-9980-42b7-9345-af866a0b2d57 4a40cdf3-a3a4-439d-ad86-13cf84db9049 g.chr6:158576366delT ENST00000367102.2 - 3 250 c.109delA c.(109-111)ctfs p.T37fs SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs Q96JX3 SRAC1_HUMAN serine active site containing 1 37 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AGTGATCCAGTAAACTTTATT 0.318 2 4 --- --- --- ---