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 SAP130 79595 broad.mit.edu 37 2 128775403 128775403 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:128775403G>C ENST00000357702.5 - 3 408 c.277C>G c.(277-279)Caa>Gaa p.Q93E SAP130_ENST00000259234.6_Missense_Mutation_p.Q67E|SAP130_ENST00000259235.3_Missense_Mutation_p.Q93E NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 93 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACAGGCTCTTGCTTCTCCTCC 0.547000 21 118 0 0 0.001523 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11373824 11373824 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:11373824C>T ENST00000528848.2 - 1 1080 c.843G>A c.(841-843)tgG>tgA p.W281* GALNT18_ENST00000227756.4_Intron NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide CAAAGCGTTCCCATCGCTTTC 0.453000 15 90 0 0 0.004007 0 0 TOB1 10140 broad.mit.edu 37 17 48941307 48941307 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:48941307A>G ENST00000499247.2 - 2 505 c.72T>C c.(70-72)cgT>cgC p.R24R TOB1_ENST00000268957.3_Silent_p.R24R|TOB1_ENST00000509385.1_5'UTR NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 24 negative regulation of cell proliferation SH3/SH2 adaptor activity p.R22fs*5(1) breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AAATGTTGACACGTCTCCTGG 0.373000 11 101 0 0 0.000673 0 0 TMTC2 160335 broad.mit.edu 37 12 83290168 83290168 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:83290168C>G ENST00000549919.1 + 4 3013 c.1208C>G c.(1207-1209)aCg>aGg p.T403R TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 409 endoplasmic reticulum|integral to membrane binding p.T409R(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GTTCCTGCCACGAACCTGTTT 0.418000 18 109 0 0 0.000743 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791671 76791671 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:76791671C>T ENST00000261183.3 - 8 954 c.475G>A c.(475-477)Ggt>Agt p.G159S OSBPL8_ENST00000393249.2_Missense_Mutation_p.G117S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.G117S NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 159 PH. lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 TTTAGAGTACCACGAATCTAC 0.358000 9 30 0 0 0.004482 0 0 NUP50 10762 broad.mit.edu 37 22 45571834 45571834 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:45571834A>G ENST00000347635.3 + 4 679 c.213A>G c.(211-213)ggA>ggG p.G71G NUP50_ENST00000425733.2_Intron|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.G43G|NUP50_ENST00000396096.2_Silent_p.G43G NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 71 Gly-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CTGGAGGAGGACGCTTTTCTG 0.493000 8 112 0 0 0.003080 0 0 MGAT1 4245 broad.mit.edu 37 5 180219088 180219088 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:180219088G>T ENST00000446023.2 - 3 1634 c.884C>A c.(883-885)cCg>cAg p.P295Q MGAT1_ENST00000307826.4_Missense_Mutation_p.P295Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000393340.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000427865.2_Missense_Mutation_p.P295Q NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 295 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|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) CCGCTGCTCCGGCCGCCGCAT 0.647000 17 12 3.8784e-16 1.21352e-15 0.001882 1 0 ZFHX3 463 broad.mit.edu 37 16 72984464 72984464 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:72984464G>C ENST00000268489.5 - 3 3792 c.3120C>G c.(3118-3120)ctC>ctG p.L1040L ZFHX3_ENST00000397992.5_Silent_p.L126L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1040 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGTTGCACTTGAGGTGCACGG 0.597000 24 33 0 0 0.002780 0 0 PRKD1 5587 broad.mit.edu 37 14 30103722 30103722 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:30103722G>T ENST00000331968.5 - 8 1445 c.1216C>A c.(1216-1218)Ctc>Atc p.L406I PRKD1_ENST00000415220.2_Missense_Mutation_p.L414I NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 406 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACCCTCATGAGTGGGATATTG 0.403000 25 140 6.32553e-13 1.89766e-12 0.004656 1 0 SWSAP1 126074 broad.mit.edu 37 19 11486363 11486363 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:11486363A>T ENST00000312423.2 + 2 420 c.361A>T c.(361-363)Aca>Tca p.T121S NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 121 ACTTCTAGACACAGCTGCCCA 0.637000 76 54 0 0 0.003610 0 0 SRGN 5552 broad.mit.edu 37 10 70847958 70847958 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:70847958T>C ENST00000242465.3 + 1 85 c.45T>C c.(43-45)ctT>ctC p.L15L SRGN_ENST00000462445.1_3'UTR NM_002727.2 NP_002718.2 P10124 SRGN_HUMAN serglycin 15 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3) 7 TCCTGGCTCTTGCCCTCATCC 0.493000 17 69 0 0 0.000743 0 0 GLI2 2736 broad.mit.edu 37 2 121747427 121747427 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:121747427C>G ENST00000452319.1 + 14 3997 c.3937C>G c.(3937-3939)Cca>Gca p.P1313A GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1313A P10070 GLI2_HUMAN GLI family zinc finger 2 1313 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGCTGGAGTGCCACCACCTCA 0.647000 3 32 0 0 0.004672 0 0 CR1 1378 broad.mit.edu 37 1 207755303 207755303 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:207755303G>T ENST00000367049.4 + 32 5257 c.5257G>T c.(5257-5259)Gtt>Ttt p.V1753F RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1303F|CR1_ENST00000367052.1_Missense_Mutation_p.V1303F|CR1_ENST00000400960.2_Missense_Mutation_p.V1303F|CR1_ENST00000367053.1_Missense_Mutation_p.V1303F|RP11-78B10.2_ENST00000596003.1_RNA NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1303 Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTGTGTCTTGGTTGGAATGAG 0.408000 23 76 2.41591e-17 7.61868e-17 0.004656 1 0 OR52B6 340980 broad.mit.edu 37 11 5602224 5602224 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5602224C>G ENST00000345043.2 + 1 118 c.118C>G c.(118-120)Ctg>Gtg p.L40V AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCCTGGGCTGGAGCAACT 0.507000 7 59 0 0 0.001984 0 0 RFX6 222546 broad.mit.edu 37 6 117240431 117240431 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:117240431G>A ENST00000332958.2 + 11 1170 c.1154G>A c.(1153-1155)cGa>cAa p.R385Q NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 385 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R385Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCTCTGAAACGACAAACATCT 0.388000 9 43 0 0 0.004482 0 0 FAT3 120114 broad.mit.edu 37 11 92088407 92088407 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:92088407C>A ENST00000298047.6 + 1 3146 c.3129C>A c.(3127-3129)ttC>ttA p.F1043L FAT3_ENST00000525166.1_Missense_Mutation_p.F893L|FAT3_ENST00000409404.2_Missense_Mutation_p.F1043L|FAT3_ENST00000541502.1_Missense_Mutation_p.F1043L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1043 Cadherin 9. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCCTATTTCCCAGACTTTG 0.507000 TCGA Ovarian(4;0.039) 11 48 2.61681e-11 7.73457e-11 0.002450 1 0 C3orf30 152405 broad.mit.edu 37 3 118870107 118870107 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:118870107G>A ENST00000295622.1 + 3 1619 c.1579G>A c.(1579-1581)Gac>Aac p.D527N RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 527 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) AAAGCCAGAGGACCCCCTGAA 0.363000 84 156 0 0 0.003610 0 0 INSC 387755 broad.mit.edu 37 11 15262059 15262059 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:15262059T>G ENST00000379554.3 + 12 1647 c.1601T>G c.(1600-1602)gTg>gGg p.V534G INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.V445G|INSC_ENST00000379556.3_Missense_Mutation_p.V487G|INSC_ENST00000525218.1_Missense_Mutation_p.V445G|INSC_ENST00000528567.1_Missense_Mutation_p.V487G|INSC_ENST00000530161.1_Missense_Mutation_p.V487G NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 534 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GCCGTGCTTGTGGCCTGCCTG 0.622000 3 32 0 0 0.004672 0 0 DCHS1 8642 broad.mit.edu 37 11 6662065 6662065 + Silent SNP G G A rs144400127 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6662065G>A ENST00000299441.3 - 2 1191 c.780C>T c.(778-780)taC>taT p.Y260Y NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 260 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAGCATGGTAGCGGCTCT 0.602000 16 113 0 0 0.003163 0 0 LRRC45 201255 broad.mit.edu 37 17 79986313 79986313 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:79986313A>T ENST00000306688.3 + 11 1508 c.1166A>T c.(1165-1167)cAg>cTg p.Q389L NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 389 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAGCAGGAGCAGCTGTTCCAG 0.662000 16 87 0 0 0.000566 0 0 PKN3 29941 broad.mit.edu 37 9 131482522 131482522 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:131482522A>G ENST00000291906.4 + 21 2810 c.2417A>G c.(2416-2418)gAg>gGg p.E806G NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 806 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GGGGCAGGTGAGCAGGATGCC 0.642000 21 20 0 0 0.002299 0 0 APOB 338 broad.mit.edu 37 2 21230159 21230159 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:21230159C>A ENST00000233242.1 - 26 9708 c.9581G>T c.(9580-9582)tGt>tTt p.C3194F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3194 Heparin-binding. 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) GATAAACTCACAAAGCACAGC 0.328000 20 41 4.96729e-08 1.37675e-07 0.001216 1 0 ANP32E 81611 broad.mit.edu 37 1 150202958 150202958 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:150202958T>G ENST00000314136.8 - 3 644 c.275A>C c.(274-276)tAc>tCc p.Y92S ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.Y44S|ANP32E_ENST00000369114.5_Missense_Mutation_p.Y92S|ANP32E_ENST00000533654.1_Missense_Mutation_p.Y92S|ANP32E_ENST00000369115.2_Intron NM_001136478.2|NM_030920.3 NP_001129950.1|NP_112182.1 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 92 cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGATTGAGGTAGGTAAGATT 0.358000 4 43 0 0 0.000248 0 0 OR8D1 283159 broad.mit.edu 37 11 124180027 124180027 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:124180027T>C ENST00000357821.2 - 1 706 c.636A>G c.(634-636)ctA>ctG p.L212L NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CAGCAACAGCTAGGGTGGGCA 0.507000 11 27 0 0 0.000978 0 0 ANXA11 311 broad.mit.edu 37 10 81915641 81915641 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:81915641T>A ENST00000438331.1 - 17 1968 c.1486A>T c.(1486-1488)Att>Ttt p.I496F ANXA11_ENST00000265447.4_Missense_Mutation_p.I496F|ANXA11_ENST00000537102.1_Missense_Mutation_p.I463F|ANXA11_ENST00000422982.3_Missense_Mutation_p.I496F|ANXA11_ENST00000360615.4_Missense_Mutation_p.I496F|ANXA11_ENST00000372231.3_Missense_Mutation_p.I496F|ANXA11_ENST00000535999.1_Missense_Mutation_p.I496F NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 496 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) TTCAGCAGAATCTTCCGGTAA 0.517000 36 117 0 0 0.003755 0 0 SIK2 23235 broad.mit.edu 37 11 111593425 111593425 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:111593425C>T ENST00000304987.3 + 14 2265 c.2092C>T c.(2092-2094)Cag>Tag p.Q698* NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 698 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GAACACCTGTCAGCTTTATTG 0.502000 26 71 0 0 0.001061 0 0 ATIC 471 broad.mit.edu 37 2 216190845 216190845 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:216190845G>T ENST00000435675.1 + 5 903 c.512G>T c.(511-513)cGc>cTc p.R171L ATIC_ENST00000540518.1_Missense_Mutation_p.R113L|ATIC_ENST00000236959.9_Missense_Mutation_p.R172L P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 172 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GAGACTAGACGCCAGTTAGCC 0.502000 T ALK ALCL 12 41 9.31168e-06 2.40602e-05 0.001855 1 0 LILRA6 79168 broad.mit.edu 37 19 54744856 54744856 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54744856C>G ENST00000440558.2 - 5 854 c.806G>C c.(805-807)gGc>gCc p.G269A LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G269A|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Missense_Mutation_p.G269A|LILRA6_ENST00000245621.5_Missense_Mutation_p.G269A leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCTGCTGGCCAGGGCGCTG 0.642000 21 68 0 0 0.002780 0 0 KIF1C 10749 broad.mit.edu 37 17 4910344 4910344 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:4910344C>A ENST00000320785.5 + 14 1657 c.1300C>A c.(1300-1302)Cag>Aag p.Q434K NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 434 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CACGGAGTCCCAGATTGGGCC 0.597000 17 64 0.000566183 0.00137013 0.000566 1 0 LRP6 4040 broad.mit.edu 37 12 12334103 12334103 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:12334103T>C ENST00000261349.4 - 6 1323 c.1247A>G c.(1246-1248)aAt>aGt p.N416S LRP6_ENST00000543091.1_Missense_Mutation_p.N416S NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 416 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCAATAAAGATTTCGTGCAAC 0.478000 13 130 0 0 0.001855 0 0 PRG2 5553 broad.mit.edu 37 11 57155327 57155327 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:57155327T>C ENST00000311862.5 - 5 583 c.510A>G c.(508-510)agA>agG p.R170R PRG2_ENST00000533605.1_Silent_p.R159R|PRG2_ENST00000525955.1_Silent_p.R170R NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGAAAGCGTCTGCAGCGAC 0.627000 7 13 0 0 0.001984 0 0 IQGAP2 10788 broad.mit.edu 37 5 75989261 75989261 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:75989261G>T ENST00000274364.6 + 31 4284 c.3987G>T c.(3985-3987)gcG>gcT p.A1329A IQGAP2_ENST00000379730.3_Silent_p.A831A|IQGAP2_ENST00000396234.3_Silent_p.A825A|IQGAP2_ENST00000502745.1_Silent_p.A825A|CTD-2384B11.2_ENST00000507514.1_RNA NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1329 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CAGCAACTGCGCAACAGGTAA 0.363000 7 19 5.4927e-09 1.54374e-08 0.004482 1 0 C6orf25 80739 broad.mit.edu 37 6 31692374 31692374 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:31692374C>A ENST00000375809.3 + 4 522 c.511C>A c.(511-513)Ccg>Acg p.P171T C6orf25_ENST00000480039.1_Missense_Mutation_p.P171T|C6orf25_ENST00000375805.2_Silent_p.P140P|C6orf25_ENST00000375810.4_Missense_Mutation_p.P171T NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 171 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 GCGCCTGCCCCCGCAACCGAT 0.542000 14 86 2.23348e-06 5.84647e-06 0.004007 1 0 RIC8B 55188 broad.mit.edu 37 12 107254088 107254088 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:107254088G>T ENST00000392837.4 + 8 1500 c.1349G>T c.(1348-1350)gGa>gTa p.G450V RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.G410V|RIC8B_ENST00000392839.2_Missense_Mutation_p.G450V Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 450 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 AATGCTGCAGGACTGTTGGCG 0.463000 12 41 7.03913e-09 1.96458e-08 0.001368 1 0 BOC 91653 broad.mit.edu 37 3 112999437 112999437 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:112999437C>A ENST00000495514.1 + 14 2939 c.2235C>A c.(2233-2235)atC>atA p.I745I BOC_ENST00000273395.4_Silent_p.I746I|BOC_ENST00000355385.3_Silent_p.I745I Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 745 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) ACACCCCAATCCATGGCTTTT 0.413000 10 41 0.000442599 0.00107431 0.000443 1 0 STARD13 90627 broad.mit.edu 37 13 33701605 33701605 + Silent SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:33701605C>G ENST00000336934.5 - 6 1943 c.1827G>C c.(1825-1827)acG>acC p.T609T STARD13_ENST00000399365.3_Silent_p.T491T|STARD13_ENST00000255486.4_Silent_p.T601T NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 609 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCTGGCTGGCCGTCTGGCTGC 0.632000 8 8 0 0 0.003080 0 0 NPY2R 4887 broad.mit.edu 37 4 156136121 156136121 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:156136121C>G ENST00000329476.3 + 2 1519 c.1030C>G c.(1030-1032)Cag>Gag p.Q344E NPY2R_ENST00000506608.1_Missense_Mutation_p.Q344E NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 344 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCGCTGTGAGCAGCGGTTGGA 0.512000 14 71 0 0 0.002450 0 0 STC1 6781 broad.mit.edu 37 8 23702425 23702425 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:23702425T>G ENST00000290271.2 - 4 885 c.602A>C c.(601-603)cAc>cCc p.H201P STC1_ENST00000524323.1_Missense_Mutation_p.H132P NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 201 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TTGGGCACAGTGGTCTGTCTG 0.542000 13 48 0 0 0.001368 0 0 A4GNT 51146 broad.mit.edu 37 3 137843691 137843691 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:137843691G>T ENST00000236709.3 - 3 639 c.438C>A c.(436-438)ctC>ctA p.L146L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 146 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AGCTGATGTGGAGCCAGTTTC 0.587000 6 68 0.00198382 0.00471525 0.001984 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40825796 40825796 + Nonsense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:40825796G>A ENST00000293349.6 - 4 785 c.355C>T c.(355-357)Cga>Tga p.R119* PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.R119*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.R119* Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 119 PH. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) AACCAGGCTCGGCGCGGGGGC 0.697000 7 5 0 0 0.001984 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105428104 105428104 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:105428104T>A ENST00000258494.9 - 19 2358 c.2218A>T c.(2218-2220)Atc>Ttc p.I740F C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 740 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TCGTCGTGGATGGATTCTTCC 0.418000 6 42 0 0 0.001984 0 0 CCDC181 57821 broad.mit.edu 37 1 169390781 169390781 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:169390781G>C ENST00000545005.1 - 4 1395 c.888C>G c.(886-888)ctC>ctG p.L296L CCDC181_ENST00000367806.3_Silent_p.L296L|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.L296L coiled-coil domain containing 181 TCTTGCGGTTGAGTGGTGGCT 0.478000 45 117 0 0 0.003610 0 0 PTDSS2 81490 broad.mit.edu 37 11 489914 489914 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:489914T>C ENST00000308020.5 + 11 1323 c.1147T>C c.(1147-1149)Tgg>Cgg p.W383R NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 383 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 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) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) CCCGCAGGCCTGGCTGGTGGC 0.692000 5 17 0 0 0.001168 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92837946 92837946 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92837946T>C ENST00000394468.2 - 4 1036 c.959A>G c.(958-960)aAc>aGc p.N320S HEPACAM2_ENST00000440868.1_Missense_Mutation_p.N308S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.N343S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.N308S NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 320 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GCCGGTTATGTTGTTGTAAGC 0.408000 11 159 0 0 0.001368 0 0 FCRL4 83417 broad.mit.edu 37 1 157557331 157557331 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:157557331C>A ENST00000271532.1 - 5 717 c.582G>T c.(580-582)gaG>gaT p.E194D FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 194 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TAGCTTTCAGCTCTGGATGTG 0.483000 13 125 0.000151284 0.000372858 0.001855 1 0 KDR 3791 broad.mit.edu 37 4 55970955 55970955 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:55970955G>T ENST00000263923.4 - 13 2137 c.1842C>A c.(1840-1842)gcC>gcA p.A614A NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 614 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGAACATGGTGGCATTCAATT 0.463000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 17 91 4.7546e-09 1.35532e-08 0.004007 1 0 WDR90 197335 broad.mit.edu 37 16 703573 703573 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:703573C>A ENST00000549091.1 + 12 1374 c.1282C>A c.(1282-1284)Cag>Aag p.Q428K WDR90_ENST00000293879.4_Missense_Mutation_p.Q428K NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 428 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGCCTCGGCCCAGGCAAGGGC 0.652000 19 71 1.56452e-12 4.67606e-12 0.000958 1 0 H3F3C 440093 broad.mit.edu 37 12 31944920 31944920 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:31944920G>A ENST00000340398.3 - 1 255 c.181C>T c.(181-183)Ctc>Ttc p.L61F NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 61 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 TTCCGGATGAGCAGCTCGGTC 0.602000 HNSCC(67;0.2) 32 52 0 0 0.001786 0 0 MGST3 4259 broad.mit.edu 37 1 165624686 165624686 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:165624686A>T ENST00000367889.3 + 6 844 c.404A>T c.(403-405)cAg>cTg p.Q135L MGST3_ENST00000367883.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149L|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149L|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135L NM_004528.3 NP_004519.1 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 135 leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) TCTGCTTTCCAGCATCTTGGT 0.473000 12 34 0 0 0.001368 0 0 ZNF547 284306 broad.mit.edu 37 19 57888603 57888603 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:57888603C>A ENST00000282282.3 + 4 409 c.259C>A c.(259-261)Cag>Aag p.Q87K AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCAGAATACCCAGCCCTGTGA 0.547000 19 31 9.7654e-05 0.000243679 0.000958 1 0 PIK3C3 5289 broad.mit.edu 37 18 39618758 39618758 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:39618758A>C ENST00000262039.4 + 18 2068 c.1982A>C c.(1981-1983)gAa>gCa p.E661A PIK3C3_ENST00000398870.3_Missense_Mutation_p.E598A|PIK3C3_ENST00000587402.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000593098.1_Missense_Mutation_p.E146A|PIK3C3_ENST00000589056.1_Missense_Mutation_p.E8A NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 661 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TTACGGAAAGAAAATCTGGAC 0.299000 TSP Lung(28;0.18) 10 30 0 0 0.000673 0 0 BAGE2 85319 broad.mit.edu 37 21 11098776 11098776 + RNA SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr21:11098776C>A ENST00000470054.1 - 0 149 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tcaggccgccctcctaacact 0.632000 15 120 4.7546e-09 1.35532e-08 0.004007 1 0 GRIN2B 2904 broad.mit.edu 37 12 14018732 14018732 + Splice_Site SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:14018732C>T ENST00000279593.3 - 2 620 c.411_splice c.e2+1 p.K137_splice NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 137 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCTTTTTACCTTATCTGCCA 0.493000 123 142 0 0 0.003610 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761863 130761863 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:130761863C>T ENST00000392429.1 + 2 2674 c.296C>T c.(295-297)aCa>aTa p.T99I TMEM200A_ENST00000296978.3_Missense_Mutation_p.T99I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.T99I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 99 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ACACTGTCAACAAATGAAACT 0.418000 27 42 0 0 0.000878 0 0 NUP210 23225 broad.mit.edu 37 3 13438951 13438951 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:13438951G>T ENST00000254508.5 - 3 424 c.342C>A c.(340-342)gaC>gaA p.D114E NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 114 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CATGGATGAGGTCCACAATGG 0.622000 13 35 2.62699e-14 8.00083e-14 0.003163 1 0 ABL1 25 broad.mit.edu 37 9 133738362 133738362 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:133738362G>A ENST00000318560.5 + 4 1143 c.762G>A c.(760-762)ggG>ggA p.G254G NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 254 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCAGTACGGGGAGGTGTACG 0.617000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 10 40 0 0 0.000443 0 0 TTLL10 254173 broad.mit.edu 37 1 1120451 1120451 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:1120451C>A ENST00000379290.1 + 13 1536 c.1363C>A c.(1363-1365)Cgg>Agg p.R455R TTLL10_ENST00000379288.3_Silent_p.R382R|TTLL10_ENST00000379289.1_Silent_p.R455R Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 455 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAAGGCCCGGGGCCTCGC 0.612000 14 14 9.31168e-06 2.40602e-05 0.001855 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409156 56409156 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:56409156C>A ENST00000544374.1 - 1 791 c.763G>T c.(763-765)Gtc>Ttc p.V255F OR5AP2_ENST00000302981.1_Missense_Mutation_p.V254F Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AATATGGTGACAGCCATGAGG 0.458000 18 67 6.94344e-10 2.00783e-09 0.000743 1 0 SMARCA4 6597 broad.mit.edu 37 19 11138619 11138619 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:11138619G>T ENST00000358026.2 + 24 3659 c.3375G>T c.(3373-3375)agG>agT p.R1125S SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125S NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1125 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AATACCTCAGGCTTGATGGTG 0.512000 """F, N, Mis""" NSCLC 43 89 2.54354e-34 8.45384e-34 0.002222 1 0 MYH15 22989 broad.mit.edu 37 3 108147552 108147552 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:108147552G>A ENST00000273353.3 - 28 3605 c.3549C>T c.(3547-3549)ttC>ttT p.F1183F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1183 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCAGCTTCTGGAATTTGGTTT 0.507000 15 72 0 0 0.003163 0 0 KIF26B 55083 broad.mit.edu 37 1 245848773 245848773 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:245848773C>T ENST00000366518.4 + 9 1449 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L KIF26B_ENST00000407071.2_Silent_p.L830L Q2KJY2 KI26B_HUMAN kinesin family member 26B 830 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCCCACCCAGCTGAGACCCTT 0.642000 10 42 0 0 0.000673 0 0 DNAH5 1767 broad.mit.edu 37 5 13714614 13714614 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:13714614T>A ENST00000265104.4 - 75 13129 c.13025A>T c.(13024-13026)aAg>aTg p.K4342M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4342 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGGTGTCCTTGGGTTGGAT 0.607000 Kartagener syndrome 15 76 0 0 0.004007 0 0 MYRIP 25924 broad.mit.edu 37 3 40231705 40231705 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:40231705G>A ENST00000302541.6 + 10 1758 c.1416G>A c.(1414-1416)ctG>ctA p.L472L MYRIP_ENST00000539167.1_Silent_p.L285L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.L383L|MYRIP_ENST00000444716.1_Silent_p.L472L|MYRIP_ENST00000425621.1_Silent_p.L472L NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 472 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGGCCAGACTGTCCTGGTTGC 0.627000 37 41 0 0 0.001111 0 0 USP34 9736 broad.mit.edu 37 2 61415830 61415830 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:61415830T>A ENST00000398571.2 - 80 10124 c.10048A>T c.(10048-10050)Act>Tct p.T3350S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3350 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTAATGGGAGTTGCTCCTTCA 0.463000 20 61 0 0 0.002780 0 0 TRIML1 339976 broad.mit.edu 37 4 189068327 189068327 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:189068327C>A ENST00000332517.3 + 6 1348 c.1208C>A c.(1207-1209)cCt>cAt p.P403H TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 403 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTCAGAGAGCCTGTGTGTAAG 0.488000 21 68 4.35082e-09 1.24911e-08 0.001523 1 0 NEK10 152110 broad.mit.edu 37 3 27203967 27203967 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:27203967T>A ENST00000429845.2 - 32 3357 c.2995A>T c.(2995-2997)Aat>Tat p.N999Y NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.N311Y|NEK10_ENST00000295720.6_Missense_Mutation_p.N311Y|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000357467.2_Missense_Mutation_p.N396Y Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 999 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCTTTGAGATTTCGAAGAATC 0.463000 28 54 0 0 0.001271 0 0 FPGT 8790 broad.mit.edu 37 1 74670983 74670983 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:74670983G>T ENST00000370898.2 + 4 1289 c.1252G>T c.(1252-1254)Gtt>Ttt p.V418F TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.V164F|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_Missense_Mutation_p.Q145H NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 ACCTGGCTCAGTTGTGGAGTA 0.433000 44 52 9.39024e-22 3.03289e-21 0.002222 1 0 EFCAB12 90288 broad.mit.edu 37 3 129140646 129140646 + Splice_Site SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:129140646C>T ENST00000505956.1 - 2 212 c.49_splice c.e2-1 p.G17_splice EFCAB12_ENST00000326085.3_Splice_Site_p.G17_splice NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 CGGGCAGAGTCCTTGGGGTAA 0.507000 9 15 0 0 0.004482 0 0 REG1A 5967 broad.mit.edu 37 2 79349171 79349171 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:79349171G>T ENST00000233735.1 + 4 344 c.241G>T c.(241-243)Ggt>Tgt p.G81C NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 81 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.G81C(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CCAGGCCGAGGGTGCCTTTGT 0.517000 32 103 3.80469e-20 1.20935e-19 0.001786 1 0 TPPP3 51673 broad.mit.edu 37 16 67425061 67425061 + Translation_Start_Site SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:67425061C>A ENST00000564104.1 - 0 795 TPPP3_ENST00000393957.2_Intron|TPPP3_ENST00000290942.5_Intron|TPPP3_ENST00000562206.1_Intron Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) CCAATCTGCCCTTCCCCTCCC 0.607000 10 18 1.58986e-06 4.18908e-06 0.000673 1 0 VAX1 11023 broad.mit.edu 37 10 118896129 118896129 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:118896129G>A ENST00000277905.2 - 2 527 c.283C>T c.(283-285)Ctg>Ttg p.L95L VAX1_ENST00000369206.5_Silent_p.L95L NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 95 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) TCCAAGTCCAGGCCCTTGGGC 0.657000 17 57 0 0 0.001216 0 0 PRCP 5547 broad.mit.edu 37 11 82571102 82571102 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:82571102C>A ENST00000313010.3 - 2 420 c.226G>T c.(226-228)Gat>Tat p.D76Y PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.D97Y NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 76 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CAGTATTTATCAGCTACTAGG 0.323000 5 35 0.000602214 0.00144857 0.000602 1 0 CHRNB3 1142 broad.mit.edu 37 8 42563960 42563960 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:42563960T>C ENST00000289957.2 + 2 281 c.153T>C c.(151-153)aaT>aaC p.N51N RP11-412B14.1_ENST00000527318.1_RNA NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 51 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TACATTCTAATGACACCATAA 0.408000 32 56 0 0 0.002096 0 0 DISP1 84976 broad.mit.edu 37 1 223116610 223116610 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:223116610C>T ENST00000284476.6 + 2 609 c.445C>T c.(445-447)Ctg>Ttg p.L149L DISP1_ENST00000360254.2_Silent_p.L149L|DISP1_ENST00000495684.1_Intron NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 149 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ATCCTTCTGCCTGCATCATCC 0.473000 24 85 0 0 0.002299 0 0 NEXN 91624 broad.mit.edu 37 1 78390878 78390878 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:78390878G>A ENST00000330010.8 + 5 558 c.261G>A c.(259-261)gaG>gaA p.E87E NEXN_ENST00000334785.7_Silent_p.E151E|NEXN_ENST00000457030.1_Intron NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 151 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AATAGATTGAGGACATAAACA 0.289000 4 9 0 0 0.000602 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 51 0 0 0.000602 0 0 VWA3B 200403 broad.mit.edu 37 2 98797619 98797619 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:98797619G>T ENST00000477737.1 + 9 1459 c.1255G>T c.(1255-1257)Gat>Tat p.D419Y VWA3B_ENST00000451075.2_Missense_Mutation_p.D269Y|VWA3B_ENST00000435344.1_Missense_Mutation_p.D419Y NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 419 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCGCCACGCTGATGGGGTTGT 0.552000 31 103 5.8336e-16 1.81818e-15 0.003271 1 0 PCLO 27445 broad.mit.edu 37 7 82580057 82580057 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:82580057G>C ENST00000423517.2 - 6 10184 c.9847C>G c.(9847-9849)Cag>Gag p.Q3283E PCLO_ENST00000333891.8_Missense_Mutation_p.Q3283E|PCLO_ENST00000437081.1_Missense_Mutation_p.Q3E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3214 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACGTCTCCTGCCTCATCATG 0.483000 19 175 0 0 0.001882 0 0 REST 5978 broad.mit.edu 37 4 57797980 57797980 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:57797980T>C ENST00000309042.7 + 4 3270 c.2956T>C c.(2956-2958)Tcc>Ccc p.S986P NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 986 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TGAAGCAGTGTCCAAAACTGC 0.453000 3 66 0 0 0.004672 0 0 PTGS1 5742 broad.mit.edu 37 9 125154726 125154726 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:125154726G>T ENST00000362012.2 + 11 1708 c.1703G>T c.(1702-1704)tGc>tTc p.C568F PTGS1_ENST00000540753.1_Missense_Mutation_p.C506F|PTGS1_ENST00000223423.4_Missense_Mutation_p.C531F|PTGS1_ENST00000373698.5_Missense_Mutation_p.C459F NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 568 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) AAGCTGGTCTGCCTCAACACC 0.577000 40 65 1.49673e-21 4.81479e-21 0.001287 1 0 NDEL1 81565 broad.mit.edu 37 17 8383805 8383805 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:8383805C>T ENST00000299734.7 + 9 1164 c.967C>T c.(967-969)Cga>Tga p.R323* MYH10_ENST00000360416.3_Missense_Mutation_p.R1768Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1753Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1737Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1758Q Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 0 Interaction with CENPF.|Interaction with NEFL (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 CTGTGCGATCCGAGCTTCCAG 0.632000 10 12 0 0 0.000443 0 0 AK7 122481 broad.mit.edu 37 14 96937852 96937852 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:96937852A>G ENST00000267584.4 + 13 1439 c.1395A>G c.(1393-1395)aaA>aaG p.K465K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 465 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GATTTATGAAAGAAAAGCTAA 0.294000 4 32 0 0 0.000248 0 0 GREB1 9687 broad.mit.edu 37 2 11696840 11696840 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:11696840A>T ENST00000381486.2 + 2 400 c.100A>T c.(100-102)Agg>Tgg p.R34W GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.R34W|GREB1_ENST00000263834.5_Missense_Mutation_p.R34W|GREB1_ENST00000381483.2_Missense_Mutation_p.R34W NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 34 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCTGGTGCCCAGGCCCATCTT 0.517000 13 57 0 0 0.001855 0 0 LILRB5 10990 broad.mit.edu 37 19 54755925 54755925 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54755925C>G ENST00000450632.1 - 12 1671 c.1594G>C c.(1594-1596)Gat>Cat p.D532H LILRB5_ENST00000345866.6_Missense_Mutation_p.D441H|LILRB5_ENST00000316219.5_Missense_Mutation_p.D540H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D541H O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 540 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACCCGAGCATCCATCTCCACC 0.627000 4 160 0 0 0.000602 0 0 OR5L2 26338 broad.mit.edu 37 11 55595286 55595286 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:55595286C>A ENST00000378397.1 + 1 592 c.592C>A c.(592-594)Ctg>Atg p.L198M NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GAATGAGACACTGCTGTTCCT 0.448000 HNSCC(27;0.073) 46 159 4.44401e-20 1.40698e-19 0.002522 1 0 C6orf118 168090 broad.mit.edu 37 6 165715309 165715309 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:165715309G>T ENST00000543069.1 - 2 771 c.190C>A c.(190-192)Cct>Act p.P64T C6orf118_ENST00000230301.8_Missense_Mutation_p.P168T Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 168 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CATCCAGGAGGGCCCCGTCCA 0.622000 33 42 8.4185e-14 2.55425e-13 0.002445 1 0 AHRR 57491 broad.mit.edu 37 5 422969 422969 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:422969G>A ENST00000316418.5 + 6 623 c.579G>A c.(577-579)gaG>gaA p.E193E AHRR_ENST00000505113.1_Silent_p.E193E|AHRR_ENST00000512529.1_Silent_p.E39E|AHRR_ENST00000506456.1_Silent_p.E49E NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CGCCCTTGGAGACAGGTGGGT 0.602000 8 32 0 0 0.003080 0 0 RPAIN 84268 broad.mit.edu 37 17 5323592 5323592 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:5323592G>T ENST00000381209.3 + 1 632 c.62G>T c.(61-63)tGg>tTg p.W21L RPAIN_ENST00000574003.1_Missense_Mutation_p.W21L|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21L|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21L|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21L NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 21 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 TCGCCGCCTTGGAAAGAGGCT 0.627000 12 34 2.27111e-07 6.20874e-07 0.001368 1 0 RNF40 9810 broad.mit.edu 37 16 30776589 30776589 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:30776589G>A ENST00000324685.6 + 7 1294 c.859G>A c.(859-861)Gag>Aag p.E287K RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.E287K|RNF40_ENST00000563683.1_Missense_Mutation_p.E287K NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 287 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GTGGGACATCGAGAAGCTGCG 0.582000 10 66 0 0 0.000673 0 0 PLCL2 23228 broad.mit.edu 37 3 17052474 17052474 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:17052474A>T ENST00000418129.2 + 2 1723 c.1258A>T c.(1258-1260)Aca>Tca p.T420S PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.T420S|PLCL2_ENST00000396755.2_Missense_Mutation_p.T420S NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 546 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 GCTCTATACAACATCACCCAA 0.388000 8 26 0 0 0.003080 0 0 QRICH2 84074 broad.mit.edu 37 17 74271917 74271917 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:74271917G>A ENST00000262765.5 - 18 5146 c.4967C>T c.(4966-4968)tCg>tTg p.S1656L NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1656 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTTGCCAGCCGAAATCTGGGC 0.672000 10 32 0 0 0.000978 0 0 VWA3B 200403 broad.mit.edu 37 2 98916586 98916586 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:98916586T>C ENST00000477737.1 + 25 3531 c.3327T>C c.(3325-3327)ttT>ttC p.F1109F VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1109 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCAAAGGATTTGACTTCTATG 0.388000 46 131 0 0 0.003214 0 0 CTD-2012J19.3 0 broad.mit.edu 37 5 1598397 1598397 + RNA SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:1598397C>A ENST00000605200.1 + 0 622 TTAGTGTTTTCCAGGCTGAGA 0.537000 9 45 5.4927e-09 1.54374e-08 0.004482 1 0 EPB41L5 57669 broad.mit.edu 37 2 120844792 120844792 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:120844792G>A ENST00000263713.5 + 11 1063 c.849G>A c.(847-849)ttG>ttA p.L283L EPB41L5_ENST00000443124.1_Silent_p.L283L|EPB41L5_ENST00000452780.1_Silent_p.L283L|EPB41L5_ENST00000443902.2_Silent_p.L283L|EPB41L5_ENST00000331393.4_Silent_p.L283L NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AATTAACCTTGGTGGTTGTAG 0.289000 13 43 0 0 0.001855 0 0 BCL2L13 23786 broad.mit.edu 37 22 18210216 18210216 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:18210216G>C ENST00000317582.5 + 7 1721 c.1374G>C c.(1372-1374)aaG>aaC p.K458N BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.K296N|BCL2L13_ENST00000538149.1_Missense_Mutation_p.K334N|BCL2L13_ENST00000337612.5_Missense_Mutation_p.K296N|BCL2L13_ENST00000485631.1_3'UTR NM_015367.2 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 458 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) CTGAGGGCAAGTCTATACTGC 0.597000 11 188 0 0 0.000673 0 0 ILK 3611 broad.mit.edu 37 11 6629415 6629415 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6629415C>A ENST00000396751.2 + 2 685 c.229C>A c.(229-231)Cat>Aat p.H77N ILK_ENST00000299421.4_Missense_Mutation_p.H77N|ILK_ENST00000420936.2_Missense_Mutation_p.H77N|ILK_ENST00000528995.1_Missense_Mutation_p.H77N|ILK_ENST00000537806.1_Intron NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 77 Interaction with LIMS1. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GGCAGCCAGTCATGGACACCG 0.527000 8 74 2.17888e-05 5.55822e-05 0.000443 1 0 PITX2 5308 broad.mit.edu 37 4 111539443 111539443 + Nonsense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:111539443G>C ENST00000354925.2 - 7 2497 c.792C>G c.(790-792)taC>taG p.Y264* PITX2_ENST00000355080.5_Nonsense_Mutation_p.Y218*|PITX2_ENST00000306732.3_Nonsense_Mutation_p.Y271*|PITX2_ENST00000394598.2_Nonsense_Mutation_p.Y264*|PITX2_ENST00000394595.3_3'UTR NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 264 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) TCGGCGGCGCGTAAGGACAGG 0.592000 8 55 0 0 0.004482 0 0 TOMM40 10452 broad.mit.edu 37 19 45406351 45406351 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:45406351G>A ENST00000426677.2 + 9 1191 c.1011G>A c.(1009-1011)ctG>ctA p.L337L TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.L337L|TOMM40_ENST00000252487.5_Silent_p.L337L NM_001128917.1 NP_001122389.1 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 337 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) CCCTGCCCCTGACACTGGCCC 0.627000 15 52 0 0 0.002450 0 0 RPAIN 84268 broad.mit.edu 37 17 5323591 5323591 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:5323591T>C ENST00000381209.3 + 1 631 c.61T>C c.(61-63)Tgg>Cgg p.W21R RPAIN_ENST00000574003.1_Missense_Mutation_p.W21R|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21R|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21R|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21R|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21R NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 21 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 CTCGCCGCCTTGGAAAGAGGC 0.627000 12 35 0 0 0.001855 0 0 ATP1B4 23439 broad.mit.edu 37 X 119509289 119509289 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:119509289C>A ENST00000218008.3 + 5 682 c.625C>A c.(625-627)Caa>Aaa p.Q209K ATP1B4_ENST00000539306.1_Missense_Mutation_p.Q166K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Q205K NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 209 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 GTACTTCATCCAAGATGGCAA 0.458000 109 34 2.34315e-34 7.82028e-34 0.003610 1 0 PCDHB16 57717 broad.mit.edu 37 5 140563937 140563937 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140563937G>C ENST00000361016.2 + 1 2958 c.1803G>C c.(1801-1803)tgG>tgC p.W601C NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 601 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAATGCCTGGCTGTCGTACC 0.721000 52 40 0 0 0.003610 0 0 TECTB 6975 broad.mit.edu 37 10 114053774 114053774 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:114053774C>T ENST00000369422.3 + 6 626 c.626C>T c.(625-627)tCg>tTg p.S209L NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 209 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.S209*(1) kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GCCACCCCCTCGGCTGACTTC 0.468000 19 44 0 0 0.001216 0 0 DLX5 1749 broad.mit.edu 37 7 96651486 96651486 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:96651486G>C ENST00000486603.2 - 2 877 c.551C>G c.(550-552)gCg>gGg p.A184G DLX5_ENST00000493764.1_Intron|DLX5_ENST00000222598.4_Intron P56178 DLX5_HUMAN distal-less homeobox 5 0 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCATGGCAGCGCCGTATTTAC 0.572000 102 66 0 0 0.003610 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135284 126135284 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:126135284T>C ENST00000299308.3 + 7 1692 c.1684T>C c.(1684-1686)Tcc>Ccc p.S562P TMEM132B_ENST00000535886.1_Missense_Mutation_p.S74P NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 562 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACGAGGCTGCTCCCTGCAGTA 0.572000 11 42 0 0 0.000978 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822750 26822750 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:26822750C>T ENST00000444914.3 + 10 1953 c.1533C>T c.(1531-1533)atC>atT p.I511I SLC13A2_ENST00000545060.1_Silent_p.I419I|SLC13A2_ENST00000314669.5_Silent_p.I462I|SLC13A2_ENST00000537681.1_Silent_p.I391I NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 462 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TTGCCATCATCCTCTCCCTCC 0.612000 51 112 0 0 0.003610 0 0 IRX2 153572 broad.mit.edu 37 5 2749089 2749089 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:2749089C>T ENST00000382611.6 - 3 981 c.733G>A c.(733-735)Gcc>Acc p.A245T IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A245T NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GGGTCCCCGGCGCGGCACGGA 0.701000 7 36 0 0 0.001984 0 0 NANOGP1 404635 broad.mit.edu 37 12 8048329 8048329 + RNA SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:8048329C>A ENST00000607111.1 + 0 257 kidney(1)|lung(4)|prostate(1) 6 ACCTCAGCTACAAACAGGTAG 0.423000 4 23 0.000602214 0.00144857 0.000602 1 0 DCHS1 8642 broad.mit.edu 37 11 6662629 6662629 + Silent SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6662629C>G ENST00000299441.3 - 2 627 c.216G>C c.(214-216)acG>acC p.T72T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGAGCTGCCGTGCCTGCCG 0.632000 9 18 0 0 0.000443 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192549 132192549 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:132192549G>C ENST00000359827.3 - 2 1866 c.904C>G c.(904-906)Cgc>Ggc p.R302G PLXNA4_ENST00000378539.5_Missense_Mutation_p.R302G|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R302G|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R302G Q9HCM2 PLXA4_HUMAN plexin A4 302 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACCCCACTGCGCTCACAGCCA 0.592000 11 41 0 0 0.000978 0 0 TBRG4 9238 broad.mit.edu 37 7 45141455 45141455 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:45141455G>A ENST00000258770.3 - 8 1657 c.1536C>T c.(1534-1536)ctC>ctT p.L512L TBRG4_ENST00000494076.1_Silent_p.L512L|TBRG4_ENST00000361278.3_Silent_p.L402L|TBRG4_ENST00000395655.4_Silent_p.L402L NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 512 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TGGCCACCTCGAGGCTGCCCT 0.662000 15 62 0 0 0.002450 0 0 KRT73 319101 broad.mit.edu 37 12 53011886 53011886 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:53011886G>C ENST00000305748.3 - 1 457 c.423C>G c.(421-423)aaC>aaG p.N141K NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 141 Coil 1A.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGCGAACTTGTTGTTCAGCA 0.547000 33 96 0 0 0.002836 0 0 GLRB 2743 broad.mit.edu 37 4 158091726 158091726 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:158091726G>C ENST00000264428.4 + 10 1610 c.1340G>C c.(1339-1341)gGa>gCa p.G447A GLRB_ENST00000509282.1_Missense_Mutation_p.G447A|GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000541722.1_3'UTR NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 447 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GTTAACAACGGACTTGGGAAA 0.413000 3 47 0 0 0.004672 0 0 OR4N2 390429 broad.mit.edu 37 14 20295661 20295661 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:20295661C>A ENST00000315947.1 + 1 54 c.54C>A c.(52-54)acC>acA p.T18T OR4N2_ENST00000568211.1_Silent_p.T18T NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T18T(2) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGTCTGACCCAGTCTCAAG 0.383000 20 136 8.34094e-07 2.21963e-06 0.001216 1 0 C2orf16 84226 broad.mit.edu 37 2 27800686 27800686 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:27800686C>T ENST00000408964.2 + 1 1298 c.1247C>T c.(1246-1248)tCt>tTt p.S416F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 416 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATGGAGGAATCTTTAGAGGTG 0.473000 8 70 0 0 0.003080 0 0 RYR3 6263 broad.mit.edu 37 15 33944987 33944987 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:33944987G>A ENST00000389232.4 + 32 4281 c.4211G>A c.(4210-4212)cGg>cAg p.R1404Q RYR3_ENST00000415757.3_Missense_Mutation_p.R1404Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1404 4 X approximate repeats.|B30.2/SPRY 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGATCAAATCGGAGCAACGTG 0.537000 11 50 0 0 0.000673 0 0 NTN3 4917 broad.mit.edu 37 16 2522435 2522435 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:2522435G>C ENST00000293973.1 + 1 936 c.733G>C c.(733-735)Gca>Cca p.A245P NM_006181.2 NP_006172.1 O00634 NET3_HUMAN netrin 3 245 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix breast(1)|central_nervous_system(2)|lung(3)|prostate(1) 7 TTACTCCTACGCAGCCACCGA 0.652000 8 57 0 0 0.004482 0 0 PRDM9 56979 broad.mit.edu 37 5 23524491 23524491 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:23524491C>G ENST00000296682.3 + 10 1181 c.999C>G c.(997-999)ttC>ttG p.F333L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 333 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGGTGGCCTTCCAGTACCACA 0.537000 HNSCC(3;0.000094) 13 57 0 0 0.000566 0 0 HERC5 51191 broad.mit.edu 37 4 89407343 89407343 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:89407343A>G ENST00000264350.3 + 14 1968 c.1815A>G c.(1813-1815)gtA>gtG p.V605V HERC5_ENST00000508159.1_Silent_p.V243V NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 605 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATTTTTTTGTAGAAGTATGCA 0.358000 18 43 0 0 0.001216 0 0 TRIM67 440730 broad.mit.edu 37 1 231333150 231333150 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:231333150G>C ENST00000444294.3 + 2 1936 c.1078G>C c.(1078-1080)Gat>Cat p.D360H TRIM67_ENST00000449018.3_Missense_Mutation_p.D298H|TRIM67_ENST00000366652.2_Missense_Mutation_p.D360H|TRIM67_ENST00000366653.5_Missense_Mutation_p.D360H NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 360 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) TGGAGTTTCAGATAAGGCAAA 0.408000 25 60 0 0 0.001061 0 0 TGM6 343641 broad.mit.edu 37 20 2413288 2413288 + Nonstop_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:2413288G>T ENST00000202625.2 + 13 2181 c.2120G>T c.(2119-2121)tGa>tTa p.*707L TGM6_ENST00000381423.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 0 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ACTGCCAAGTGATGGATCATG 0.572000 18 62 1.45105e-14 4.43623e-14 0.000743 1 0 BCMO1 53630 broad.mit.edu 37 16 81298334 81298334 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:81298334C>T ENST00000258168.2 + 5 1022 c.561C>T c.(559-561)tcC>tcT p.S187S BCMO1_ENST00000425577.2_Silent_p.S118S NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 187 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TGGGCACATCCATTGTGGAAA 0.428000 10 38 0 0 0.000978 0 0 CTNND2 1501 broad.mit.edu 37 5 11397213 11397213 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:11397213C>G ENST00000304623.8 - 6 731 c.542G>C c.(541-543)gGg>gCg p.G181A CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G181A|CTNND2_ENST00000511377.1_Missense_Mutation_p.G90A|CTNND2_ENST00000503622.1_Intron NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 181 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGTGGTTTCCCCCAGGGCCAG 0.607000 24 65 0 0 0.003954 0 0 IGSF1 3547 broad.mit.edu 37 X 130408088 130408088 + Nonsense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:130408088C>A ENST00000370904.1 - 25 4727 c.3817G>T c.(3817-3819)Gag>Tag p.E1273* IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E1282*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E1287*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E1273* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1282 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TTCTTCCACTCTATGGCTAGC 0.502000 120 84 2.28331e-34 7.65243e-34 0.003610 1 0 DHRS2 10202 broad.mit.edu 37 14 24108495 24108495 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:24108495A>G ENST00000250383.6 + 3 724 c.248A>G c.(247-249)gAg>gGg p.E83G DHRS2_ENST00000344777.7_Missense_Mutation_p.E83G|DHRS2_ENST00000553896.1_3'UTR NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 61 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CTGCAGGGGGAGGGGCTGAGT 0.687000 3 90 0 0 0.004672 0 0 PROL1 58503 broad.mit.edu 37 4 71275379 71275379 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:71275379T>C ENST00000399575.2 + 3 508 c.334T>C c.(334-336)Tac>Cac p.Y112H PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 112 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACTAAGACCTTACTATGTAGG 0.393000 48 135 0 0 0.003610 0 0 DCX 1641 broad.mit.edu 37 X 110576307 110576307 + Silent SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:110576307A>T ENST00000338081.3 - 4 1194 c.1023T>A c.(1021-1023)gcT>gcA p.A341A DCX_ENST00000356915.2_Silent_p.A260A|DCX_ENST00000488120.1_Silent_p.A260A|DCX_ENST00000356220.3_Silent_p.A260A|DCX_ENST00000371993.2_Silent_p.A260A|DCX_ENST00000496551.1_5'UTR NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 341 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AATCATCCTGAGCATAGCGAA 0.393000 8 5 0 0 0.004482 0 0 MRS2 57380 broad.mit.edu 37 6 24423169 24423169 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:24423169A>G ENST00000378386.3 + 10 1205 c.1112A>G c.(1111-1113)cAt>cGt p.H371R MRS2_ENST00000543597.1_Missense_Mutation_p.H80R|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.H321R|MRS2_ENST00000443868.2_Missense_Mutation_p.H374R|MRS2_ENST00000378353.1_Missense_Mutation_p.H371R NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 371 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TTTTAGGACCATAGAATTTTT 0.438000 40 58 0 0 0.001287 0 0 KCNN4 3783 broad.mit.edu 37 19 44271786 44271786 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:44271786G>A ENST00000262888.3 - 8 1588 c.1193C>T c.(1192-1194)aCg>aTg p.T398M NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 398 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CCCCGCCAGCGTGTCAATCTG 0.602000 33 31 0 0 0.002445 0 0 KDR 3791 broad.mit.edu 37 4 55964304 55964304 + Splice_Site SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:55964304C>A ENST00000263923.4 - 17 2804 c.2509_splice c.e17+1 p.G837_splice NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 837 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAAAATGCACCTAGCTTCAGC 0.423000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 7 66 5.4927e-09 1.54374e-08 0.004482 1 0 BRINP3 339479 broad.mit.edu 37 1 190423907 190423907 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:190423907C>T ENST00000367462.3 - 2 345 c.114G>A c.(112-114)caG>caA p.Q38Q FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 38 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGTGGCATGCTGATCCGAAA 0.517000 13 31 0 0 0.002450 0 0 KCNH2 3757 broad.mit.edu 37 7 150647315 150647315 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:150647315T>A ENST00000392968.2 - 7 3171 c.2051A>T c.(2050-2052)tAc>tTc p.Y684F KCNH2_ENST00000330883.4_Missense_Mutation_p.Y440F|KCNH2_ENST00000262186.5_Missense_Mutation_p.Y780F|KCNH2_ENST00000430723.3_Missense_Mutation_p.Y780F Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 780 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGAGATGAAGTACAGGGCGGT 0.652000 12 128 0 0 0.000978 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678550 3678550 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:3678550G>A ENST00000344754.4 - 8 2016 c.2017C>T c.(2017-2019)Cgt>Tgt p.R673C SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R673C NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 673 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ATCTCCACACGCAGCAAGTTG 0.612000 10 50 0 0 0.000673 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 73 0 0 0.004672 0 0 CILP 8483 broad.mit.edu 37 15 65491007 65491007 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:65491007G>C ENST00000261883.4 - 9 1783 c.1617C>G c.(1615-1617)ctC>ctG p.L539L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 539 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCACAAATGTGAGCACCAGCC 0.522000 14 65 0 0 0.003163 0 0 STK36 27148 broad.mit.edu 37 2 219543985 219543985 + Splice_Site SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:219543985G>T ENST00000295709.3 + 7 1057 c.e7+1 STK36_ENST00000440309.1_Splice_Site|STK36_ENST00000392105.3_Splice_Site|STK36_ENST00000392106.2_Splice_Site NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CATGTCACCAGTGAGTCATCA 0.507000 16 84 2.23348e-06 5.84647e-06 0.004007 1 0 COL22A1 169044 broad.mit.edu 37 8 139728521 139728521 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:139728521G>T ENST00000303045.6 - 29 2858 c.2412C>A c.(2410-2412)ggC>ggA p.G804G COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G804G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 804 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCCTGGGAGGCCTGCTTCTC 0.587000 HNSCC(7;0.00092) 3 12 6.4e-05 0.000160738 0.004672 1 0 CD300A 11314 broad.mit.edu 37 17 72469713 72469713 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:72469713C>A ENST00000360141.3 + 2 367 c.79C>A c.(79-81)Ccc>Acc p.P27T CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 27 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CGTGGCGGGCCCCGTGGGGGG 0.562000 19 89 1.15919e-05 2.96648e-05 0.001216 1 0 RPH3A 22895 broad.mit.edu 37 12 113314582 113314582 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:113314582C>A ENST00000389385.4 + 13 1579 c.1082C>A c.(1081-1083)gCa>gAa p.A361E RPH3A_ENST00000447659.2_Missense_Mutation_p.A312E|RPH3A_ENST00000415485.3_Missense_Mutation_p.A361E|RPH3A_ENST00000551052.1_Missense_Mutation_p.A357E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.A361E|RPH3A_ENST00000420983.2_Missense_Mutation_p.A361E|RPH3A_ENST00000548866.1_Missense_Mutation_p.A312E NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 361 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CAAGCATCTGCAGCTGCCCCC 0.642000 8 49 0.000274275 0.000671848 0.004482 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443979 5443979 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5443979C>A ENST00000300778.4 + 1 639 c.549C>A c.(547-549)caC>caA p.H183Q HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGCCTCCACCAGGATATGA 0.512000 51 168 2.74695e-27 9.01766e-27 0.003610 1 0 SGCZ 137868 broad.mit.edu 37 8 13948034 13948034 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:13948034C>G ENST00000382080.1 - 8 1572 c.857G>C c.(856-858)tGc>tCc p.C286S SGCZ_ENST00000421524.2_Missense_Mutation_p.C239S NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 273 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.C286F(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GCCATTGGGGCAGACGCAGAG 0.498000 15 69 0 0 0.000566 0 0 HMGCS1 3157 broad.mit.edu 37 5 43295957 43295957 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:43295957A>T ENST00000325110.6 - 6 1008 c.802T>A c.(802-804)Tgt>Agt p.C268S HMGCS1_ENST00000433297.2_Missense_Mutation_p.C268S NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 268 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 ACCAGTTTACAATATGGTGAG 0.353000 11 55 0 0 0.000673 0 0 NTRK3 4916 broad.mit.edu 37 15 88472442 88472442 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:88472442A>T ENST00000394480.1 - 17 2434 c.2113T>A c.(2113-2115)Tac>Aac p.Y705N NTRK3_ENST00000558676.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000542733.2_Missense_Mutation_p.Y607N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y697N|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y705N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y705N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 705 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCGTGCTGTAGACATCTCTG 0.517000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 29 126 0 0 0.002096 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397303 5397303 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:5397303G>T ENST00000341928.2 - 18 2935 c.2595C>A c.(2593-2595)caC>caA p.H865Q EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H696Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H643Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H643Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H865Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H170Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H162Q NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 865 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CCCCACTCGCGTGCACCACAC 0.617000 29 41 7.68411e-24 2.50202e-23 0.001512 1 0 TRAV3 28690 broad.mit.edu 37 14 22192489 22192489 + RNA SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:22192489G>T ENST00000390425.2 + 0 440 AATTTAACAAGAGCCAAACCT 0.493000 13 69 7.03913e-09 1.96458e-08 0.001368 1 0 MAP3K10 4294 broad.mit.edu 37 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:40710471G>A ENST00000253055.3 + 3 1231 c.943G>A c.(943-945)Gtg>Atg p.V315M MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 315 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GGCGTATGGCGTGGCTATGAA 0.682000 7 41 0 0 0.003080 0 0 SIN3B 23309 broad.mit.edu 37 19 16977356 16977356 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:16977356G>T ENST00000379803.1 + 13 1905 c.1891G>T c.(1891-1893)Gtc>Ttc p.V631F SIN3B_ENST00000595541.1_Missense_Mutation_p.V189F|SIN3B_ENST00000248054.5_Missense_Mutation_p.V599F NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 631 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GATCGAGAGCGTCTACGACGA 0.622000 29 20 2.65835e-16 8.35033e-16 0.001271 1 0 WDR90 197335 broad.mit.edu 37 16 715788 715788 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:715788A>G ENST00000549091.1 + 35 4519 c.4427A>G c.(4426-4428)cAg>cGg p.Q1476R WDR90_ENST00000315764.4_Missense_Mutation_p.Q73R|WDR90_ENST00000293879.4_Missense_Mutation_p.Q1474R|WDR90_ENST00000547944.1_Missense_Mutation_p.Q73R|WDR90_ENST00000547543.1_3'UTR NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1474 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ATCCAGTTCCAGGTGCTGAAC 0.701000 3 29 0 0 0.000248 0 0 FREM2 341640 broad.mit.edu 37 13 39435695 39435695 + Silent SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:39435695A>T ENST00000280481.7 + 15 7863 c.7647A>T c.(7645-7647)atA>atT p.I2549I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2549 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGCCACACATAGATGGTAGGT 0.423000 21 67 0 0 0.003330 0 0 ADCY3 109 broad.mit.edu 37 2 25048966 25048966 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:25048966A>T ENST00000260600.5 - 15 3376 c.2525T>A c.(2524-2526)aTg>aAg p.M842K RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.M429K NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 842 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CATCACCGTCATAGAGTACTT 0.612000 7 29 0 0 0.001984 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745488 135745488 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:135745488T>A ENST00000375845.3 - 7 984 c.954A>T c.(952-954)aaA>aaT p.K318N MAP3K19_ENST00000392915.1_Missense_Mutation_p.K335N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K205N NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TGATTTCAATTTTGTTACATT 0.403000 21 47 0 0 0.001216 0 0 CHD2 1106 broad.mit.edu 37 15 93540258 93540258 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:93540258A>G ENST00000394196.4 + 29 4735 c.3667A>G c.(3667-3669)Atc>Gtc p.I1223V CHD2_ENST00000557381.1_Missense_Mutation_p.I1223V NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1223 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAAATCCATTATCCAACATGA 0.378000 3 36 0 0 0.004672 0 0 ASAP1 50807 broad.mit.edu 37 8 131070203 131070203 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:131070203C>A ENST00000357668.1 - 28 3339 c.3312G>T c.(3310-3312)tgG>tgT p.W1104C ASAP1_ENST00000518721.1_Missense_Mutation_p.W1104C Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 1104 SH3. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TACGTACCCACCACTCCTGGT 0.512000 68 94 6.20995e-33 2.04698e-32 0.003610 1 0 UNC13C 440279 broad.mit.edu 37 15 54306702 54306702 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:54306702C>T ENST00000545554.1 + 1 1602 c.1602C>T c.(1600-1602)ctC>ctT p.L534L UNC13C_ENST00000260323.11_Silent_p.L534L|UNC13C_ENST00000537900.1_Silent_p.L534L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 534 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAACACCTCTCTGGCACTCAC 0.358000 7 61 0 0 0.003080 0 0 GMIP 51291 broad.mit.edu 37 19 19753398 19753398 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:19753398C>G ENST00000203556.4 - 2 187 c.50G>C c.(49-51)aGg>aCg p.R17T GMIP_ENST00000445806.2_Missense_Mutation_p.R17T|GMIP_ENST00000587238.1_Missense_Mutation_p.R17T NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 17 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GTCACTGTACCTCTTCCTGCC 0.592000 89 64 0 0 0.003610 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24896427 24896427 + Splice_Site SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:24896427C>T ENST00000396432.2 - 11 3171 c.e11+1 ARHGAP21_ENST00000493154.1_Splice_Site|ARHGAP21_ENST00000320481.6_Splice_Site NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 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 CCGAGACTTACAATTTTGCAT 0.388000 7 73 0 0 0.001984 0 0 KIF14 9928 broad.mit.edu 37 1 200522870 200522870 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:200522870G>A ENST00000367350.4 - 30 5031 c.4593C>T c.(4591-4593)ctC>ctT p.L1531L NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1531 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CACAAGTCTGGAGAAGATTTA 0.383000 15 54 0 0 0.000958 0 0 EOMES 8320 broad.mit.edu 37 3 27760106 27760106 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:27760106C>T ENST00000295743.4 - 5 1554 c.1351G>A c.(1351-1353)Gca>Aca p.A451T EOMES_ENST00000449599.1_Missense_Mutation_p.A451T|EOMES_ENST00000537516.1_Missense_Mutation_p.A156T O95936 EOMES_HUMAN eomesodermin 451 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 AAGCCTTTTGCAAAGGGGTTA 0.403000 10 37 0 0 0.000673 0 0 ACTR6 64431 broad.mit.edu 37 12 100603865 100603865 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:100603865G>T ENST00000188312.2 + 5 1159 c.394G>T c.(394-396)Gca>Tca p.A132S ACTR6_ENST00000552376.1_Missense_Mutation_p.A132S|ACTR6_ENST00000551617.1_Missense_Mutation_p.A50S|ACTR6_ENST00000546902.1_Missense_Mutation_p.A50S NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 132 cytoplasm|cytoskeleton autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 GGCTCTCAGTGCACATAGGTA 0.308000 8 56 5.18039e-06 1.35163e-05 0.003080 1 0 TJP2 9414 broad.mit.edu 37 9 71866155 71866155 + Nonsense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:71866155G>T ENST00000377245.4 + 21 3404 c.3196G>T c.(3196-3198)Gag>Tag p.E1066* TJP2_ENST00000453658.2_Intron|TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1097*|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1033*|TJP2_ENST00000348208.4_Intron NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 1066 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGAGGTGGGAGAGAGCAGTGA 0.502000 17 35 8.60227e-14 2.60016e-13 0.004007 1 0 DPP10 57628 broad.mit.edu 37 2 116535404 116535404 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:116535404T>A ENST00000410059.1 + 15 1835 c.1355T>A c.(1354-1356)cTg>cAg p.L452Q DPP10_ENST00000310323.8_Missense_Mutation_p.L445Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L456Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L402Q NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 452 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GGAAGGCAGCTGTACAGGTAA 0.403000 7 62 0 0 0.001984 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347844 38347844 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:38347844C>G ENST00000273173.4 + 1 418 c.327C>G c.(325-327)caC>caG p.H109Q SLC22A14_ENST00000448498.1_Missense_Mutation_p.H109Q NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 109 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGGGCCCCCACCTGTCCAAAG 0.532000 35 53 0 0 0.003271 0 0 ASPM 259266 broad.mit.edu 37 1 197071613 197071613 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:197071613T>A ENST00000367409.4 - 18 7024 c.6768A>T c.(6766-6768)agA>agT p.R2256S ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2256 IQ 20. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTAAATGTCTTCTAGCTTTCT 0.348000 25 127 0 0 0.000878 0 0 TBC1D28 254272 broad.mit.edu 37 17 18542504 18542504 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:18542504C>G ENST00000345096.4 - 5 881 c.182G>C c.(181-183)aGt>aCt p.S61T TBC1D28_ENST00000405044.1_Missense_Mutation_p.S61T Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 61 intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 CTCCAGGGCACTGACGCGGGG 0.652000 20 31 0 0 0.004656 0 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:100681963T>C ENST00000306151.4 + 3 7330 c.7266T>C c.(7264-7266)gtT>gtC p.V2422V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2422 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCTGTTGACACCAGCA 0.512000 6 1107 0 0 0.000602 0 0 ACTG2 72 broad.mit.edu 37 2 74128460 74128460 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:74128460G>A ENST00000409624.1 + 3 665 c.22G>A c.(22-24)Gcg>Acg p.A8T ACTG2_ENST00000409918.1_Missense_Mutation_p.A8T|ACTG2_ENST00000409731.3_Missense_Mutation_p.A8T|ACTG2_ENST00000345517.3_Missense_Mutation_p.A8T P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 8 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 GGAGACCACCGCGCTCGTGTG 0.607000 10 42 0 0 0.000978 0 0 PYGO1 26108 broad.mit.edu 37 15 55838897 55838897 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:55838897A>T ENST00000302000.6 - 3 678 c.584T>A c.(583-585)gTt>gAt p.V195D PYGO1_ENST00000563719.1_Missense_Mutation_p.V195D NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 195 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GGGGTTAGAAACTTGGCTAGC 0.348000 23 48 0 0 0.001882 0 0 RASGRF1 5923 broad.mit.edu 37 15 79382664 79382664 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:79382664G>A ENST00000419573.3 - 1 451 c.177C>T c.(175-177)agC>agT p.S59S RASGRF1_ENST00000558480.2_Silent_p.S59S NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 59 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGGGCCGCGAGCTCGAGTCGC 0.637000 8 102 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113301698 113301698 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:113301698G>T ENST00000297405.5 - 57 9288 c.9044C>A c.(9043-9045)tCt>tAt p.S3015Y CSMD3_ENST00000455883.2_Missense_Mutation_p.S2846Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2945Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2975Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3015 Sushi 21. integral to membrane|plasma membrane p.S2975F(1)|p.S3015F(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGAACAGTAGACCCAAAAGT 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 67 6.33239e-15 1.95839e-14 0.001523 1 0 PPFIA2 8499 broad.mit.edu 37 12 81719651 81719651 + Splice_Site SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:81719651T>A ENST00000550584.2 - 21 2844 c.e21-2 PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAAAGCCTCCTGTGAAGAGAA 0.423000 3 25 0 0 0.000248 0 0 VAV3 10451 broad.mit.edu 37 1 108247231 108247231 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:108247231G>A ENST00000370056.4 - 17 1920 c.1646C>T c.(1645-1647)gCg>gTg p.A549V VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A484V|VAV3_ENST00000527011.1_Missense_Mutation_p.A549V NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 549 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GTGTGCTCTCGCTCCACACTT 0.358000 19 26 0 0 0.001882 0 0 F5 2153 broad.mit.edu 37 1 169512317 169512317 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:169512317T>C ENST00000367796.3 - 13 2227 c.2026A>G c.(2026-2028)Aga>Gga p.R676G F5_ENST00000367797.3_Missense_Mutation_p.R671G P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 671 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTTTGCTTCTTGGACTAGAA 0.383000 19 52 0 0 0.000958 0 0 ABHD5 51099 broad.mit.edu 37 3 43743731 43743731 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:43743731A>C ENST00000458276.2 + 3 281 c.158A>C c.(157-159)gAa>gCa p.E53A NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 53 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TACAAAAAAGAACCTGTTCGT 0.338000 20 24 0 0 0.001216 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508752 37508752 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:37508752A>T ENST00000374660.1 + 40 4400 c.4301A>T c.(4300-4302)gAg>gTg p.E1434V ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1315V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1315V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAGAAAAATGAGGAGATATTT 0.274000 5 12 0 0 0.000602 0 0 F13B 2165 broad.mit.edu 37 1 197024991 197024991 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:197024991A>T ENST00000367412.1 - 8 1251 c.1208T>A c.(1207-1209)aTg>aAg p.M403K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 403 Sushi 7. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AGCCCCATTCATTACAACAGG 0.343000 4 56 0 0 0.000248 0 0 HSF2BP 11077 broad.mit.edu 37 21 45050217 45050217 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr21:45050217G>A ENST00000291560.2 - 6 891 c.560C>T c.(559-561)gCt>gTt p.A187V HSF2BP_ENST00000542962.1_Missense_Mutation_p.A112V NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 187 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) GACAATTCCAGCCAGAGCGAA 0.463000 3 30 0 0 0.004672 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 42 19 0 0 0.001706 0 0 MLLT4 4301 broad.mit.edu 37 6 168344628 168344628 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:168344628G>A ENST00000366806.2 + 26 3368 c.3226G>A c.(3226-3228)Gaa>Aaa p.E1076K MLLT4_ENST00000392112.1_Missense_Mutation_p.E1059K|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1076K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1083K|MLLT4_ENST00000447894.2_Missense_Mutation_p.E1076K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1076K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1075K P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1076 PDZ. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TAGGGCGGCAGAACTCATGAC 0.478000 T MLL AL 25 38 0 0 0.000878 0 0 TRANK1 9881 broad.mit.edu 37 3 36898414 36898414 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:36898414C>A ENST00000301807.6 - 12 2914 c.1017G>T c.(1015-1017)cgG>cgT p.R339R TRANK1_ENST00000428977.2_Silent_p.R339R|TRANK1_ENST00000429976.2_Silent_p.R889R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 889 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCGTGTAGATCCGCCCTGATT 0.522000 11 7 0.000673444 0.00161506 0.000673 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762801 92762801 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92762801T>C ENST00000318238.4 - 5 3700 c.2484A>G c.(2482-2484)cgA>cgG p.R828R SAMD9L_ENST00000437805.1_Silent_p.R828R|SAMD9L_ENST00000411955.1_Silent_p.R828R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 828 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTTCATATCGCAAATCCT 0.358000 93 58 0 0 0.003610 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916167 97916167 + RNA SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:97916167A>C ENST00000534948.1 + 0 945 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GATAGTTGATAGGTCGGCACC 0.279000 11 49 0 0 0.000978 0 0 TP53 7157 broad.mit.edu 37 17 7577508 7577508 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:7577508T>G ENST00000420246.2 - 7 905 c.773A>C c.(772-774)gAa>gCa p.E258A TP53_ENST00000413465.2_Missense_Mutation_p.E258A|TP53_ENST00000455263.2_Missense_Mutation_p.E258A|TP53_ENST00000445888.2_Missense_Mutation_p.E258A|TP53_ENST00000269305.4_Missense_Mutation_p.E258A|TP53_ENST00000359597.4_Missense_Mutation_p.E258A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 258 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E258G(8)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(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) CCTGGAGTCTTCCAGTGTGAT 0.582000 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) 14 29 0 0 0.002450 0 0 IQCD 115811 broad.mit.edu 37 12 113645284 113645284 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:113645284C>T ENST00000546692.1 - 2 1061 c.688G>A c.(688-690)Gaa>Aaa p.E230K IQCD_ENST00000416617.2_Missense_Mutation_p.E230K|IQCD_ENST00000299732.2_Missense_Mutation_p.E230K Q96DY2 IQCD_HUMAN IQ motif containing D 230 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AATTCCTTTTCAAGAGTATCA 0.383000 5 56 0 0 0.001168 0 0 CYBB 1536 broad.mit.edu 37 X 37651299 37651299 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:37651299T>C ENST00000378588.4 + 4 391 c.324T>C c.(322-324)atT>atC p.I108I TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.I76I NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 108 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CATGGATGATTGCACTTCACT 0.383000 5 12 0 0 0.000602 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820836 62820836 + RNA SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:62820836C>A ENST00000582986.1 - 0 188 NR_024386.1 GGCCTCAGCTCGGATGTGCTT 0.577000 13 26 4.3838e-07 1.18629e-06 0.001855 1 0 NUP93 9688 broad.mit.edu 37 16 56865903 56865903 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:56865903A>T ENST00000564887.1 + 9 1495 c.866A>T c.(865-867)gAt>gTt p.D289V NUP93_ENST00000308159.5_Missense_Mutation_p.D412V|NUP93_ENST00000569842.1_Missense_Mutation_p.D412V|NUP93_ENST00000542526.1_Missense_Mutation_p.D289V NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 412 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 AAAACTGAGGATTACCTGTGG 0.502000 17 94 0 0 0.000743 0 0 RNF215 200312 broad.mit.edu 37 22 30782669 30782669 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:30782669G>A ENST00000382363.3 - 2 439 c.365C>T c.(364-366)gCc>gTc p.A122V NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 122 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 GTGGAACTGGGCCGCCTGCTC 0.637000 16 71 0 0 0.000743 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968311 102968311 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:102968311A>C ENST00000233954.1 + 11 1872 c.1601A>C c.(1600-1602)cAa>cCa p.Q534P NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 534 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GTGAGGTACCAAATGCCTGTG 0.488000 15 91 0 0 0.004007 0 0 CALN1 83698 broad.mit.edu 37 7 71571178 71571178 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:71571178C>T ENST00000395275.2 - 4 734 c.346G>A c.(346-348)Gag>Aag p.E116K CALN1_ENST00000405452.2_Missense_Mutation_p.E74K|CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000431984.1_Missense_Mutation_p.E74K|CALN1_ENST00000329008.5_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 74 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AGCTCCACCTCGCTTGGCATG 0.597000 4 44 0 0 0.000248 0 0 ANKRD12 23253 broad.mit.edu 37 18 9256148 9256148 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:9256148G>A ENST00000383440.2 + 8 3071 c.2814G>A c.(2812-2814)aaG>aaA p.K938K ANKRD12_ENST00000400020.3_Silent_p.K938K|ANKRD12_ENST00000262126.3_Silent_p.K961K NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 961 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TAGATAAAAAGGAAAAATCTA 0.284000 4 19 0 0 0.000248 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684370 80684370 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:80684370G>T ENST00000269373.6 + 5 556 c.483G>T c.(481-483)caG>caT p.Q161H FN3KRP_ENST00000535965.1_Missense_Mutation_p.Q111H NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 161 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ATGACTGGCAGGAGGACTGGG 0.557000 98 207 1.12176e-53 3.77535e-53 0.003610 1 0 NEURL1 9148 broad.mit.edu 37 10 105349976 105349976 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:105349976C>T ENST00000369780.4 + 6 1981 c.1572C>T c.(1570-1572)tgC>tgT p.C524C NEURL_ENST00000369777.2_Silent_p.C507C|SH3PXD2A_ENST00000427662.2_Intron NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 524 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GCACCATTTGCTATGAACACG 0.632000 14 75 0 0 0.003163 0 0 MGAM 8972 broad.mit.edu 37 7 141794549 141794549 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:141794549G>T ENST00000475668.2 + 63 7398 c.7344G>T c.(7342-7344)acG>acT p.T2448T MGAM_ENST00000549489.2_Silent_p.T1552T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1552 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTTTCAGACGGGAGCAGATA 0.473000 8 46 1.06961e-07 2.94419e-07 0.003080 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559200 140559200 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140559200G>C ENST00000239444.2 + 1 1830 c.1585G>C c.(1585-1587)Gag>Cag p.E529Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 529 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCGTTCGAGTTCCGGGT 0.677000 54 255 0 0 0.003610 0 0 TJP2 9414 broad.mit.edu 37 9 71845073 71845073 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:71845073G>C ENST00000377245.4 + 11 1804 c.1596G>C c.(1594-1596)ggG>ggC p.G532G TJP2_ENST00000453658.2_Silent_p.G509G|TJP2_ENST00000265384.7_Silent_p.G532G|TJP2_ENST00000539225.1_Silent_p.G563G|TJP2_ENST00000535702.1_Silent_p.G536G|TJP2_ENST00000348208.4_Silent_p.G532G NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 532 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 ATGATGTCGGGATATTTGTTG 0.517000 40 67 0 0 0.001287 0 0 SAMD9 54809 broad.mit.edu 37 7 92733867 92733867 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92733867C>A ENST00000379958.2 - 3 1813 c.1544G>T c.(1543-1545)aGa>aTa p.R515I NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 515 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) AGCTCTTTCTCTTTGCCAGGA 0.388000 15 156 1.3612e-06 3.61034e-06 0.003163 1 0 REM1 28954 broad.mit.edu 37 20 30070276 30070276 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:30070276G>A ENST00000201979.2 + 4 903 c.610G>A c.(610-612)Gaa>Aaa p.E204K NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 204 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCGCTGCCGAGAAGTCTCTGT 0.617000 11 46 0 0 0.000978 0 0 ZNF257 113835 broad.mit.edu 37 19 22271543 22271543 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:22271543C>T ENST00000594947.1 + 4 1135 c.991C>T c.(991-993)Ctt>Ttt p.L331F NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) GTCCTCAGCCCTTACTCGACA 0.423000 23 41 0 0 0.002780 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83411200 83411200 + Splice_Site SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:83411200C>A ENST00000262752.2 - 3 149 c.e3-1 RPS6KA6_ENST00000543399.1_Splice_Site NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTCCTTCATCCTGTAAAAAGA 0.358000 5 6 0.00116845 0.00278549 0.001168 1 0 GREB1 9687 broad.mit.edu 37 2 11696796 11696796 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:11696796A>G ENST00000381486.2 + 2 356 c.56A>G c.(55-57)cAc>cGc p.H19R GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.H19R|GREB1_ENST00000263834.5_Missense_Mutation_p.H19R|GREB1_ENST00000381483.2_Missense_Mutation_p.H19R NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 19 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAGGTCTTGCACAATTCCATC 0.512000 31 69 0 0 0.002445 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177580 89177580 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:89177580C>A ENST00000561129.2 + 1 626 c.496C>A c.(496-498)Cag>Aag p.Q166K TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q166K Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GCCAAAGGGCCAGATGTCAAG 0.592000 11 21 6.40141e-05 0.000160738 0.000978 1 0 LINC00202-2 731789 broad.mit.edu 37 10 26939503 26939503 + RNA SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:26939503C>A ENST00000544033.1 + 0 5436 NR_026794.1 TGGCACCACCCAGCCCAATGG 0.468000 19 118 2.39187e-15 7.42593e-15 0.001216 1 0 TDRD6 221400 broad.mit.edu 37 6 46660541 46660541 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:46660541C>A ENST00000544460.1 + 1 4930 c.4676C>A c.(4675-4677)gCa>gAa p.A1559E TDRD6_ENST00000316081.6_Missense_Mutation_p.A1559E NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1559 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GAACAGGTAGCAGACAGGAGA 0.388000 6 47 1.06961e-07 2.94419e-07 0.003080 1 0 PTPN3 5774 broad.mit.edu 37 9 112189263 112189263 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:112189263T>G ENST00000412145.1 - 7 3128 c.575A>C c.(574-576)cAg>cCg p.Q192P PTPN3_ENST00000374541.2_Missense_Mutation_p.Q323P|PTPN3_ENST00000262539.3_Missense_Mutation_p.Q214P|PTPN3_ENST00000446349.1_Missense_Mutation_p.Q192P NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 323 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGTCCAGTACTGAGACAGAAC 0.438000 37 43 0 0 0.001111 0 0 KIN 22944 broad.mit.edu 37 10 7808047 7808047 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:7808047C>G ENST00000379562.3 - 9 865 c.818G>C c.(817-819)aGa>aCa p.R273T KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.R273T|KIN_ENST00000543003.1_Missense_Mutation_p.R167T O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 273 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TCGGGCAGTTCTTTTCTTTTC 0.328000 6 42 0 0 0.001984 0 0 PGAP1 80055 broad.mit.edu 37 2 197711732 197711732 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:197711732C>G ENST00000354764.3 - 22 2259 c.2145G>C c.(2143-2145)ttG>ttC p.L715F NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 715 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 TTTACCTTTTCAAAGCTAGCC 0.333000 10 22 0 0 0.000443 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874864 117874864 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:117874864G>A ENST00000357099.4 + 4 637 c.464G>A c.(463-465)gGt>gAt p.G155D ANKRD7_ENST00000417525.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000265224.4_Missense_Mutation_p.G135D|ANKRD7_ENST00000433239.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000477532.1_3'UTR Q92527 ANKR7_HUMAN ankyrin repeat domain 7 135 male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 GCTGTTTGTGGTCAAAGTTTG 0.333000 24 43 0 0 0.002299 0 0 TET1 80312 broad.mit.edu 37 10 70450631 70450631 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:70450631G>T ENST00000373644.4 + 12 5680 c.5471G>T c.(5470-5472)aGt>aTt p.S1824I NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1824 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ATCTTAAAAAGTTCAGACAAC 0.453000 14 68 9.31168e-06 2.40602e-05 0.001855 1 0 BCORL1 63035 broad.mit.edu 37 X 129154964 129154964 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:129154964G>T ENST00000540052.1 + 4 3490 c.3446G>T c.(3445-3447)cGg>cTg p.R1149L BCORL1_ENST00000218147.7_Missense_Mutation_p.R1149L|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149L|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1149 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 CCACAGTGCCGGAAGCTGCCC 0.552000 41 16 8.01111e-26 2.61914e-25 0.002522 1 0 GPR149 344758 broad.mit.edu 37 3 154138924 154138924 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:154138924T>A ENST00000389740.2 - 3 1626 c.1527A>T c.(1525-1527)gaA>gaT p.E509D NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 509 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTCTGGCCCTTCAGAAAAGG 0.413000 105 98 0 0 0.003610 0 0 NLRP12 91662 broad.mit.edu 37 19 54313633 54313633 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54313633G>T ENST00000324134.6 - 3 1448 c.1280C>A c.(1279-1281)aCg>aAg p.T427K NLRP12_ENST00000351894.4_Missense_Mutation_p.T427K|NLRP12_ENST00000391772.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391773.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391775.3_Missense_Mutation_p.T427K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T427K|NLRP12_ENST00000354278.3_Missense_Mutation_p.T427K|NLRP12_ENST00000535162.1_Missense_Mutation_p.T427K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 427 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGTCCTGGACGTCTGTCTCAA 0.642000 59 96 3.53049e-34 1.16856e-33 0.003610 1 0 ADAM2 2515 broad.mit.edu 37 8 39682379 39682379 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:39682379T>C ENST00000265708.4 - 4 329 c.226A>G c.(226-228)Agt>Ggt p.S76G ADAM2_ENST00000521880.1_Missense_Mutation_p.S76G|ADAM2_ENST00000347580.4_Missense_Mutation_p.S76G|ADAM2_ENST00000379853.2_Missense_Mutation_p.S76G|ADAM2_ENST00000523181.1_5'UTR NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 76 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CCTGTGCCACTATAACTGTAA 0.274000 8 30 0 0 0.000443 0 0 ADSL 158 broad.mit.edu 37 22 40760320 40760320 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:40760320C>T ENST00000216194.7 + 11 1198 c.1142C>T c.(1141-1143)gCc>gTc p.A381V ADSL_ENST00000342312.6_Missense_Mutation_p.A381V|ADSL_ENST00000454266.2_Missense_Mutation_p.A395V NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 381 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity p.A381V(2) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 CCTTTCATGGCCACAGAGAAC 0.478000 6 38 0 0 0.001984 0 0 KERA 11081 broad.mit.edu 37 12 91449952 91449952 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:91449952G>C ENST00000266719.3 - 2 354 c.107C>G c.(106-108)aCt>aGt p.T36S NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 36 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GTCATGAATAGTCCAATCATC 0.408000 5 40 0 0 0.000602 0 0 FAT1 2195 broad.mit.edu 37 4 187522436 187522436 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:187522436T>C ENST00000441802.2 - 21 11836 c.11627A>G c.(11626-11628)tAt>tGt p.Y3876C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3876 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAAGATGCTATAGTCAGTTCC 0.388000 HNSCC(5;0.00058) 3 27 0 0 0.004672 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 107 0 0 0.004672 0 0 HAO1 54363 broad.mit.edu 37 20 7875861 7875861 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:7875861G>T ENST00000378789.3 - 5 783 c.732C>A c.(730-732)gcC>gcA p.A244A NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 244 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAGCCTCCCTGGCATCATCAC 0.512000 11 70 0.00010058 0.000248656 0.001368 1 0 MMP20 9313 broad.mit.edu 37 11 102477389 102477389 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:102477389A>G ENST00000260228.2 - 6 842 c.830T>C c.(829-831)cTg>cCg p.L277P MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 277 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GGGCTTCCCCAGGAATACTTT 0.532000 16 64 0 0 0.000566 0 0 NELL1 4745 broad.mit.edu 37 11 21135210 21135210 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:21135210G>T ENST00000298925.5 + 14 1613 c.1460G>T c.(1459-1461)cGc>cTc p.R487L NELL1_ENST00000357134.5_Missense_Mutation_p.R459L|NELL1_ENST00000325319.5_Missense_Mutation_p.R402L|NELL1_ENST00000532434.1_Missense_Mutation_p.R459L Q92832 NELL1_HUMAN NEL-like 1 (chicken) 459 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGGTTATATCGCTGTGACTGT 0.398000 35 82 7.11191e-15 2.19101e-14 0.002836 1 0 LIPC 3990 broad.mit.edu 37 15 58724316 58724316 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:58724316C>G ENST00000414170.3 + 2 372 c.85C>G c.(85-87)Cca>Gca p.P29A LIPC_ENST00000433326.2_Missense_Mutation_p.P29A|LIPC_ENST00000299022.5_Missense_Mutation_p.P29A|LIPC_ENST00000356113.6_Missense_Mutation_p.P29A P11150 LIPC_HUMAN lipase, hepatic 29 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAGCCTGAAACCAGGTAAGAG 0.448000 16 76 0 0 0.000566 0 0 CXorf66 347487 broad.mit.edu 37 X 139038574 139038574 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:139038574T>C ENST00000370540.1 - 3 590 c.567A>G c.(565-567)gaA>gaG p.E189E NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 189 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TACATAATTTTTCTAGGCTGC 0.413000 25 125 0 0 0.002780 0 0 INSM2 84684 broad.mit.edu 37 14 36003680 36003680 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:36003680G>T ENST00000307169.3 + 1 433 c.222G>T c.(220-222)ggG>ggT p.G74G NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AACAGTCGGGGTCGCCATGTC 0.781000 9 4 0.000442599 0.00107431 0.000443 1 0 RNF213 57674 broad.mit.edu 37 17 78360548 78360548 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:78360548C>T ENST00000582970.1 + 63 14922 c.14779C>T c.(14779-14781)Cgg>Tgg p.R4927W RNF213_ENST00000336301.6_Missense_Mutation_p.R3000W|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4976W NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGAAGTGGAGCGGGACCTGAC 0.572000 35 36 0 0 0.003755 0 0 EPX 8288 broad.mit.edu 37 17 56271376 56271376 + Missense_Mutation SNP G G C rs150719520 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:56271376G>C ENST00000225371.5 + 5 627 c.517G>C c.(517-519)Gcc>Ccc p.A173P NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 173 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CTGGCTGCCCGCCGAGTATGA 0.652000 13 51 0 0 0.003163 0 0 AGBL1 123624 broad.mit.edu 37 15 86940669 86940669 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:86940669G>T ENST00000441037.2 + 17 2404 c.2309G>T c.(2308-2310)gGt>gTt p.G770V AGBL1_ENST00000421325.2_Missense_Mutation_p.G770V|AGBL1_ENST00000389298.3_Missense_Mutation_p.G501V NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 770 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTGATGAAGGGTACCTTGGAG 0.483000 21 73 4.35082e-09 1.24911e-08 0.001523 1 0 PROX1 5629 broad.mit.edu 37 1 214171271 214171271 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:214171271C>A ENST00000366958.4 + 2 2001 c.1393C>A c.(1393-1395)Cac>Aac p.H465N PROX1_ENST00000261454.4_Missense_Mutation_p.H465N|PROX1_ENST00000498508.2_Missense_Mutation_p.H465N|PROX1_ENST00000435016.1_Missense_Mutation_p.H465N NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 465 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CCAGCCCCTGCACCAGTCGCC 0.632000 15 144 7.93312e-07 2.11814e-06 0.002450 1 0 ASPH 444 broad.mit.edu 37 8 62438587 62438587 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:62438587C>T ENST00000541428.1 - 22 1922 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K ASPH_ENST00000379454.4_Missense_Mutation_p.E617K NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 617 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTCAGGTTTTCATCCTCAGGC 0.483000 47 113 0 0 0.003610 0 0 NDST3 9348 broad.mit.edu 37 4 119148127 119148127 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:119148127C>A ENST00000296499.5 + 8 2212 c.1809C>A c.(1807-1809)ccC>ccA p.P603P NDST3_ENST00000433996.2_Silent_p.P522P NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 603 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TAATAGGACCCCAGAAAACTG 0.368000 12 70 0.000978159 0.00233882 0.000978 1 0 SEC31B 25956 broad.mit.edu 37 10 102267289 102267289 + Silent SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:102267289T>A ENST00000370345.3 - 7 772 c.675A>T c.(673-675)atA>atT p.I225I NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.I228I|SEC31B_ENST00000451524.1_Silent_p.I225I|SEC31B_ENST00000535773.1_Silent_p.I68I|NDUFB8_ENST00000557395.1_3'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 225 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ACTGGGTGGCTATGTCAGGAT 0.557000 18 58 0 0 0.000743 0 0 GTDC1 79712 broad.mit.edu 37 2 144903281 144903281 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:144903281T>A ENST00000409214.1 - 5 483 c.205A>T c.(205-207)Aac>Tac p.N69Y GTDC1_ENST00000409298.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000241391.5_Missense_Mutation_p.N69Y|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Missense_Mutation_p.N69Y|GTDC1_ENST00000392867.3_Missense_Mutation_p.N69Y|GTDC1_ENST00000392869.1_Missense_Mutation_p.N69Y NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 69 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) TCGGTCAGGTTAAGCACTGAA 0.438000 22 64 0 0 0.003954 0 0 LGALS14 56891 broad.mit.edu 37 19 40197266 40197266 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:40197266T>C ENST00000392052.3 + 2 268 c.45T>C c.(43-45)ccT>ccC p.P15P LGALS14_ENST00000360675.3_Silent_p.P44P NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 15 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) TTTCCTTGCCTGTTGGTTCGT 0.498000 66 131 0 0 0.003610 0 0 MGST3 4259 broad.mit.edu 37 1 165624685 165624685 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:165624685C>A ENST00000367889.3 + 6 843 c.403C>A c.(403-405)Cag>Aag p.Q135K MGST3_ENST00000367883.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149K|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000404549.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149K|MGST3_ENST00000367884.1_Missense_Mutation_p.Q135K NM_004528.3 NP_004519.1 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 135 leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) CTCTGCTTTCCAGCATCTTGG 0.473000 12 34 0.00010058 0.000248656 0.001368 1 0 PDE5A 8654 broad.mit.edu 37 4 120446754 120446754 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:120446754G>A ENST00000354960.3 - 12 2048 c.1729C>T c.(1729-1731)Cgg>Tgg p.R577W RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 577 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.R577W(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTAAACATCCGAATTGTACAC 0.448000 25 42 0 0 0.003330 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827590 130827590 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:130827590A>T ENST00000245255.3 + 3 406 c.134A>T c.(133-135)gAa>gTa p.E45V NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 45 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCAGAGGGGGAATTATTTGGC 0.473000 6 31 0 0 0.001168 0 0 OR2T11 127077 broad.mit.edu 37 1 248789867 248789867 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:248789867T>A ENST00000330803.2 - 1 624 c.563A>T c.(562-564)gAc>gTc p.D188V NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|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;0.0265) CAAGGACGTGTCTGCACAGGC 0.478000 32 30 0 0 0.002836 0 0 PRKG2 5593 broad.mit.edu 37 4 82061705 82061705 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:82061705C>G ENST00000395578.1 - 12 1642 c.1526G>C c.(1525-1527)tGc>tCc p.C509S PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.C480S|PRKG2_ENST00000264399.1_Missense_Mutation_p.C509S|PRKG2_ENST00000545647.1_Missense_Mutation_p.C89S Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 509 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GAATGGAGAGCACAGCTCCTC 0.373000 11 77 0 0 0.002450 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242004 87242004 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:87242004A>G ENST00000297524.3 - 1 606 c.503T>C c.(502-504)gTg>gCg p.V168A SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.V168A NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 168 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AAGTATGGACACTTTCAGCAC 0.418000 17 72 0 0 0.004007 0 0 SLC7A8 23428 broad.mit.edu 37 14 23609700 23609700 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:23609700C>T ENST00000316902.7 - 5 1493 c.768G>A c.(766-768)gaG>gaA p.E256E SLC7A8_ENST00000469263.1_Silent_p.E256E|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000529705.2_Silent_p.E151E|SLC7A8_ENST00000453702.1_Silent_p.E53E NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 256 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAACAAGCTCCTCAGTCACGT 0.532000 22 146 0 0 0.001882 0 0 ABCC8 6833 broad.mit.edu 37 11 17428485 17428485 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:17428485C>T ENST00000302539.4 - 25 3240 c.3115G>A c.(3115-3117)Gac>Aac p.D1039N ABCC8_ENST00000389817.3_Missense_Mutation_p.D1038N NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1038 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCGCTGTCGGTCCACTTG 0.652000 27 78 0 0 0.004656 0 0 LCE3A 353142 broad.mit.edu 37 1 152595358 152595358 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152595358C>T ENST00000335674.1 - 1 221 c.222G>A c.(220-222)caG>caA p.Q74Q NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 74 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCGCCTTGCTGACCACTTC 0.567000 15 108 0 0 0.000743 0 0 ANKRD44 91526 broad.mit.edu 37 2 197866545 197866545 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:197866545C>T ENST00000328737.2 - 22 2368 c.2292G>A c.(2290-2292)gaG>gaA p.E764E ANKRD44_ENST00000337207.5_Silent_p.E764E|ANKRD44_ENST00000282272.8_Silent_p.E781E|ANKRD44_ENST00000450567.1_Silent_p.E764E Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 789 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAAAAGTACCTCTATACAGT 0.333000 14 50 0 0 0.003163 0 0 ZNF524 147807 broad.mit.edu 37 19 56114033 56114033 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:56114033G>A ENST00000591046.1 + 1 789 c.555G>A c.(553-555)ctG>ctA p.L185L ZNF524_ENST00000301073.3_Silent_p.L185L Q96C55 ZN524_HUMAN zinc finger protein 524 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGGCGAGCTGGCGCACCACC 0.736000 10 13 0 0 0.001855 0 0 ZNF502 91392 broad.mit.edu 37 3 44762721 44762721 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:44762721G>T ENST00000296091.4 + 4 668 c.412G>T c.(412-414)Gat>Tat p.D138Y ZNF502_ENST00000436624.2_Missense_Mutation_p.D138Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.D138Y NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ACAAACCAATGATATTTCAGA 0.388000 7 41 1.12685e-05 2.89297e-05 0.004482 1 0 SLC25A21 89874 broad.mit.edu 37 14 37283178 37283178 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:37283178G>T ENST00000331299.5 - 3 663 c.148C>A c.(148-150)Cca>Aca p.P50T RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50T NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 50 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TAACTGTTTGGATCGGTTGCA 0.313000 8 58 0.000274275 0.000671848 0.004482 1 0 MED24 9862 broad.mit.edu 37 17 38179592 38179592 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:38179592G>T ENST00000394126.1 - 19 2535 c.2117C>A c.(2116-2118)aCa>aAa p.T706K MED24_ENST00000394128.2_Missense_Mutation_p.T681K|MED24_ENST00000501516.3_Missense_Mutation_p.T700K|MED24_ENST00000394127.2_Missense_Mutation_p.T668K|MED24_ENST00000356271.3_Missense_Mutation_p.T668K O75448 MED24_HUMAN mediator complex subunit 24 681 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CTGCGTGGCTGTCTGCTGCAG 0.612000 16 33 1.02788e-11 3.04939e-11 0.000566 1 0 C10orf71 118461 broad.mit.edu 37 10 50532083 50532083 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:50532083G>C ENST00000374144.3 + 3 1781 c.1493G>C c.(1492-1494)aGc>aCc p.S498T C10orf71_ENST00000323868.4_Missense_Mutation_p.S498T Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 498 endometrium(1) 1 AAAGCCCCTAGCCTGCTGTTC 0.512000 4 20 0 0 0.000248 0 0 MARS2 92935 broad.mit.edu 37 2 198570156 198570156 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:198570156G>T ENST00000282276.6 + 1 70 c.27G>T c.(25-27)ctG>ctT p.L9L AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 9 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TCCTCCGCCTGCTAGGACGCA 0.662000 8 63 2.74318e-10 8.0193e-10 0.000443 1 0 FRY 10129 broad.mit.edu 37 13 32812117 32812117 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:32812117G>T ENST00000380250.3 + 44 6908 c.6412G>T c.(6412-6414)Gct>Tct p.A2138S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2138 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCATCCCACGCTATTGGTAA 0.458000 16 74 6.94344e-10 2.00783e-09 0.000743 1 0 OR4C46 119749 broad.mit.edu 37 11 51515649 51515649 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:51515649C>A ENST00000328188.1 + 1 368 c.368C>A c.(367-369)gCc>gAc p.A123D NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CACTATGTGGCCATCTGCAAG 0.478000 33 112 1.62565e-12 4.84068e-12 0.002445 1 0 NSMCE4A 54780 broad.mit.edu 37 10 123730454 123730454 + Splice_Site SNP T T A rs139294636 byFrequency TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:123730454T>A ENST00000538652.1 - 3 661 c.24_splice c.e3+1 p.L8_splice NSMCE4A_ENST00000369023.3_Splice_Site_p.L167_splice|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Splice_Site_p.L167_splice Q9NXX6 NSE4A_HUMAN non-SMC element 4 homolog A (S. cerevisiae) 167 breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 6 all_neural(114;0.138)|Glioma(114;0.222) TTGAACTTACTAGAGTTTCAA 0.358000 5 19 0 0 0.000602 0 0 MCCC2 64087 broad.mit.edu 37 5 70952610 70952610 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:70952610C>T ENST00000340941.6 + 17 1744 c.1615C>T c.(1615-1617)Ctg>Ttg p.L539L MCCC2_ENST00000323375.8_Silent_p.L501L NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 539 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AGACACCAGACTGGTCTTGGG 0.413000 37 74 0 0 0.001111 0 0 KMT2D 8085 broad.mit.edu 37 12 49420184 49420184 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:49420184C>T ENST00000301067.7 - 48 15564 c.15565G>A c.(15565-15567)Gga>Aga p.G5189R NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGCAGCTGTCCGATGGCGTGG 0.592000 6 27 0 0 0.001984 0 0 PDE10A 10846 broad.mit.edu 37 6 165832125 165832125 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:165832125T>C ENST00000366882.1 - 12 1120 c.966A>G c.(964-966)atA>atG p.I322M PDE10A_ENST00000354448.4_Missense_Mutation_p.I322M|PDE10A_ENST00000539869.2_Missense_Mutation_p.I332M Q9Y233 PDE10_HUMAN phosphodiesterase 10A 322 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGCTGTACCTTATCTCTTTGG 0.413000 19 29 0 0 0.000743 0 0 RBM41 55285 broad.mit.edu 37 X 106312633 106312633 + Splice_Site SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:106312633C>G ENST00000372487.1 - 6 954 c.e6-1 RBM41_ENST00000372479.3_Splice_Site NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GGTATAATACCTAAAACAAAT 0.408000 37 65 0 0 0.004289 0 0 VCAN 1462 broad.mit.edu 37 5 82836553 82836553 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:82836553C>G ENST00000265077.3 + 8 8296 c.7731C>G c.(7729-7731)atC>atG p.I2577M VCAN_ENST00000343200.5_Missense_Mutation_p.I1590M|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2577 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAATACTATCATAGATATTG 0.358000 17 28 0 0 0.004007 0 0 TRPM6 140803 broad.mit.edu 37 9 77436731 77436731 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:77436731G>T ENST00000451710.3 - 8 1101 c.864C>A c.(862-864)gtC>gtA p.V288V TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.V283V|TRPM6_ENST00000360774.1_Silent_p.V288V|TRPM6_ENST00000376864.4_Silent_p.V288V|TRPM6_ENST00000376871.3_Silent_p.V288V|TRPM6_ENST00000376872.3_Silent_p.V288V|TRPM6_ENST00000361255.3_Silent_p.V283V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 288 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCAGCCCCACGACCGGCACGC 0.572000 19 29 5.03518e-11 1.47736e-10 0.000958 1 0 LCP1 3936 broad.mit.edu 37 13 46726918 46726918 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:46726918C>T ENST00000398576.2 - 10 1124 c.736G>A c.(736-738)Gaa>Aaa p.E246K LCP1_ENST00000323076.2_Missense_Mutation_p.E246K P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 246 Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CTCTTACCTTCATTTCTGCTG 0.458000 T BCL6 NHL 9 34 0 0 0.000443 0 0 FRAS1 80144 broad.mit.edu 37 4 79207678 79207678 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:79207678C>A ENST00000264895.6 + 14 1959 c.1519C>A c.(1519-1521)Cgc>Agc p.R507S FRAS1_ENST00000325942.6_Missense_Mutation_p.R507S|FRAS1_ENST00000264899.6_Missense_Mutation_p.R507S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 507 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTACCAAGATCGCCATTCCTG 0.622000 10 57 0.00010058 0.000248656 0.001368 1 0 OR4D10 390197 broad.mit.edu 37 11 59245073 59245073 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:59245073G>T ENST00000530162.1 + 1 228 c.171G>T c.(169-171)acG>acT p.T57T NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTCACACGCCCATGTATT 0.433000 38 157 2.19358e-23 7.11359e-23 0.001111 1 0 SEMA3F 6405 broad.mit.edu 37 3 50225414 50225414 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:50225414A>T ENST00000002829.3 + 19 2708 c.2224A>T c.(2224-2226)Atc>Ttc p.I742F SEMA3F_ENST00000434342.1_Missense_Mutation_p.I711F|SEMA3F_ENST00000413852.1_Missense_Mutation_p.I643F NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 742 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) AGTGGGCCTCATCCACCAGTA 0.687000 4 8 0 0 0.000248 0 0 AFF3 3899 broad.mit.edu 37 2 100210206 100210206 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:100210206C>T ENST00000317233.4 - 14 2152 c.1917G>A c.(1915-1917)aaG>aaA p.K639K AFF3_ENST00000409579.1_Silent_p.K664K|AFF3_ENST00000356421.2_Silent_p.K664K|AFF3_ENST00000409236.1_Silent_p.K639K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 639 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGCGCAGCTCCTTGCGGTGGC 0.662000 14 74 0 0 0.001855 0 0 FLG 2312 broad.mit.edu 37 1 152278933 152278933 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152278933C>A ENST00000368799.1 - 3 8464 c.8429G>T c.(8428-8430)gGa>gTa p.G2810V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2810 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGTGTCCAGAGCTATC 0.577000 Ichthyosis 67 499 1.77486e-58 6.024e-58 0.003610 1 0 NTM 50863 broad.mit.edu 37 11 132016211 132016211 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:132016211G>T ENST00000374786.1 + 2 682 c.203G>T c.(202-204)tGg>tTg p.W68L NTM_ENST00000374784.1_Missense_Mutation_p.W68L|NTM_ENST00000425719.2_Missense_Mutation_p.W68L|NTM_ENST00000427481.2_Missense_Mutation_p.W59L|NTM_ENST00000539799.1_Missense_Mutation_p.W68L|NTM_ENST00000374791.3_Missense_Mutation_p.W68L NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 68 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.W68L(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CGGGTGGCCTGGCTAAACCGC 0.577000 13 40 7.93312e-07 2.11814e-06 0.002450 1 0 ESAM 90952 broad.mit.edu 37 11 124632034 124632034 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:124632034C>A ENST00000278927.5 - 1 146 c.17G>T c.(16-18)gGg>gTg p.G6V RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Missense_Mutation_p.G6V NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 6 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CACCAGGGGCCCCGGGAGGGA 0.697000 5 19 3.59834e-05 9.09233e-05 0.001168 1 0 TMEM130 222865 broad.mit.edu 37 7 98449123 98449123 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:98449123C>T ENST00000450876.1 - 6 1990 c.675G>A c.(673-675)ggG>ggA p.G225G TMEM130_ENST00000345589.4_Silent_p.G207G|TMEM130_ENST00000339375.4_Silent_p.G309G|TMEM130_ENST00000546258.1_Silent_p.G290G|TMEM130_ENST00000416379.2_Silent_p.G309G Q8N3G9 TM130_HUMAN transmembrane protein 130 309 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCAGTAGTCCCCAGGGTCCC 0.592000 61 42 0 0 0.003610 0 0 C7orf60 154743 broad.mit.edu 37 7 112555359 112555359 + Splice_Site SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:112555359A>G ENST00000297145.4 - 2 468 c.e2+1 C7orf60_ENST00000485446.1_Splice_Site NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 AAAAGTACTTACCTACAACAC 0.373000 32 52 0 0 0.003755 0 0 FMN2 56776 broad.mit.edu 37 1 240371752 240371752 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:240371752G>T ENST00000319653.9 + 5 3870 c.3640G>T c.(3640-3642)Ggt>Tgt p.G1214C NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1214 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCCCTTGCCAGGTATGGGGAT 0.647000 6 25 8.12818e-05 0.000203459 0.001984 1 0 BLM 641 broad.mit.edu 37 15 91304239 91304239 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:91304239G>C ENST00000355112.3 + 7 1754 c.1636G>C c.(1636-1638)Gaa>Caa p.E546Q BLM_ENST00000560509.1_Missense_Mutation_p.E546Q NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 546 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTTAGAAAGAGAAACCCAACC 0.338000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 6 72 0 0 0.003080 0 0 VAV1 7409 broad.mit.edu 37 19 6854109 6854109 + Splice_Site SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:6854109G>T ENST00000304076.2 + 25 2512 c.2418_splice c.e25+1 p.R806_splice VAV1_ENST00000539284.1_Splice_Site_p.R731_splice|VAV1_ENST00000602142.1_Splice_Site_p.R828_splice|VAV1_ENST00000596764.1_Splice_Site_p.R796_splice|VAV1_ENST00000599806.1_Splice_Site_p.R773_splice NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 828 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TCTATGGCCGGGTGAGGCAGG 0.622000 8 31 3.09899e-07 8.41453e-07 0.004482 1 0 SLC16A12 387700 broad.mit.edu 37 10 91193071 91193071 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:91193071T>A ENST00000341233.4 - 8 1601 c.1211A>T c.(1210-1212)gAt>gTt p.D404V SLC16A12_ENST00000371790.4_Missense_Mutation_p.D434V NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 404 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 GCCGGTGGTATCTACCAGCCG 0.368000 8 31 0 0 0.004482 0 0 ATF6 22926 broad.mit.edu 37 1 161789450 161789450 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:161789450A>G ENST00000367942.3 + 8 1004 c.937A>G c.(937-939)Atg>Gtg p.M313V NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 313 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACAGCAACGTATGATAAAAAA 0.368000 4 54 0 0 0.000248 0 0 PTGFRN 5738 broad.mit.edu 37 1 117504234 117504234 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:117504234G>T ENST00000393203.2 + 5 1730 c.1583G>T c.(1582-1584)tGg>tTg p.W528L NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 528 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AACAACAGCTGGGTGAAAAGC 0.413000 19 26 1.45105e-14 4.43623e-14 0.000743 1 0 ITGA8 8516 broad.mit.edu 37 10 15688977 15688977 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:15688977G>T ENST00000378076.3 - 12 1428 c.1075C>A c.(1075-1077)Caa>Aaa p.Q359K NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 359 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AGGTAGATTTGCCCTACTTCT 0.502000 18 101 5.03518e-11 1.47736e-10 0.000958 1 0 FN3KRP 79672 broad.mit.edu 37 17 80684371 80684371 + Nonsense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:80684371G>T ENST00000269373.6 + 5 557 c.484G>T c.(484-486)Gag>Tag p.E162* FN3KRP_ENST00000535965.1_Nonsense_Mutation_p.E112* NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 162 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TGACTGGCAGGAGGACTGGGT 0.562000 100 205 1.72158e-54 5.81852e-54 0.003610 1 0 DNAI1 27019 broad.mit.edu 37 9 34490414 34490414 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:34490414C>A ENST00000242317.4 + 7 720 c.549C>A c.(547-549)ccC>ccA p.P183P DNAI1_ENST00000488369.1_3'UTR NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 183 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CTAAGCAGCCCAAGGAGAGAA 0.498000 Kartagener syndrome 230 120 5.95591e-76 2.03008e-75 0.003610 1 0 KCNH1 3756 broad.mit.edu 37 1 211192294 211192294 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:211192294C>T ENST00000367007.4 - 6 1032 c.863G>A c.(862-864)cGc>cAc p.R288H KCNH1_ENST00000271751.4_Missense_Mutation_p.R288H NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 288 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTAGTTCATGCGGATAAGTTT 0.448000 31 97 0 0 0.002445 0 0 PLXNA1 5361 broad.mit.edu 37 3 126747090 126747090 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:126747090G>T ENST00000251772.4 + 24 4576 c.4507G>T c.(4507-4509)Gac>Tac p.D1503Y PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1526Y Q9UIW2 PLXA1_HUMAN plexin A1 1526 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GCTGGACTGTGACACGGTCAC 0.657000 12 31 1.08611e-07 2.97936e-07 0.000978 1 0 MIOS 54468 broad.mit.edu 37 7 7622858 7622858 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:7622858G>A ENST00000340080.4 + 6 1924 c.1503G>A c.(1501-1503)aaG>aaA p.K501K MIOS_ENST00000405785.1_Silent_p.K501K|MIOS_ENST00000461907.2_3'UTR NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 501 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGTGGATAAAGAAAGGAACGG 0.413000 6 84 0 0 0.001984 0 0 FCRL2 79368 broad.mit.edu 37 1 157740241 157740241 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:157740241G>A ENST00000361516.3 - 3 316 c.268C>T c.(268-270)Ctc>Ttc p.L90F FCRL2_ENST00000392274.3_Missense_Mutation_p.L90F|FCRL2_ENST00000368181.4_Missense_Mutation_p.L90F NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 90 Ig-like C2-type 1. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTATCCCAGAGAAAGAGTTGT 0.403000 14 62 0 0 0.001855 0 0 REG3G 130120 broad.mit.edu 37 2 79254286 79254286 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:79254286G>T ENST00000272324.5 + 4 506 c.322G>T c.(322-324)Gac>Tac p.D108Y REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.D108Y NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 108 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGGCTCCATGACCCCACACA 0.552000 25 88 6.32553e-13 1.89766e-12 0.004656 1 0 REG1A 5967 broad.mit.edu 37 2 79349170 79349170 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:79349170G>T ENST00000233735.1 + 4 343 c.240G>T c.(238-240)gaG>gaT p.E80D NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 80 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CCCAGGCCGAGGGTGCCTTTG 0.517000 31 106 1.55811e-20 4.99219e-20 0.001512 1 0 SPATA2L 124044 broad.mit.edu 37 16 89764695 89764695 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:89764695C>T ENST00000289805.5 - 3 390 c.322G>A c.(322-324)Gtg>Atg p.V108M SPATA2L_ENST00000335360.7_Missense_Mutation_p.V108M NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 108 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) AGCACGTGCACGTAGCCCCCA 0.617000 25 252 0 0 0.001786 0 0 C14orf142 84520 broad.mit.edu 37 14 93673339 93673339 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:93673339T>A ENST00000306954.4 - 1 100 c.44A>T c.(43-45)cAg>cTg p.Q15L RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron NM_032490.4 NP_115879.2 Q9BXV9 CN142_HUMAN chromosome 14 open reading frame 142 15 endometrium(1)|skin(1) 2 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203) CCGCAGCTTCTGCGGCTTCCC 0.622000 OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 61 0 0 0.002522 0 0 TTN 7273 broad.mit.edu 37 2 179598434 179598434 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:179598434G>A ENST00000589042.1 - 53 15906 c.15682C>T c.(15682-15684)Cct>Tct p.P5228S TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P4911S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3984S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4911 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAACATCAGGGATTATCAAG 0.413000 39 145 0 0 0.001111 0 0 NBPF1 55672 broad.mit.edu 37 1 16895686 16895686 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:16895686C>A ENST00000430580.2 - 23 3383 c.2496G>T c.(2494-2496)tgG>tgT p.W832C NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 832 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AACCTTCATCCCAGGACTCCT 0.483000 8 343 0.000442599 0.00107431 0.000443 1 0 RNF213 57674 broad.mit.edu 37 17 78319512 78319512 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:78319512G>C ENST00000582970.1 + 29 7520 c.7377G>C c.(7375-7377)atG>atC p.M2459I RNF213_ENST00000336301.6_Missense_Mutation_p.M532I|RNF213_ENST00000508628.2_Missense_Mutation_p.M2508I NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTGCAGACATGATCTACTCCA 0.488000 17 106 0 0 0.000566 0 0 PARD3B 117583 broad.mit.edu 37 2 205989155 205989155 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:205989155G>A ENST00000406610.2 + 9 1477 c.1270G>A c.(1270-1272)Gat>Aat p.D424N PARD3B_ENST00000358768.2_Missense_Mutation_p.D424N|PARD3B_ENST00000349953.3_Missense_Mutation_p.D424N|PARD3B_ENST00000462231.1_Missense_Mutation_p.D424N|PARD3B_ENST00000351153.1_Missense_Mutation_p.D424N NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 424 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGCAATAAAAGATGGCCGCCT 0.373000 22 59 0 0 0.001882 0 0 EHMT2 10919 broad.mit.edu 37 6 31864040 31864040 + Splice_Site SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:31864040C>T ENST00000395728.3 - 3 752 c.753_splice c.e3+1 p.Q251_splice EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Splice_Site_p.Q194_splice|EHMT2_ENST00000375528.4_Splice_Site_p.Q251_splice|EHMT2_ENST00000375537.4_Splice_Site_p.Q194_splice Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 194 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCCCACTCACCTGTCCATTTC 0.512000 44 62 0 0 0.003214 0 0 EFTUD2 9343 broad.mit.edu 37 17 42930947 42930947 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:42930947G>T ENST00000426333.2 - 24 2701 c.2404C>A c.(2404-2406)Cac>Aac p.H802N EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792N NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 802 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCGCCCCGGTGCAGGGGCTCC 0.592000 6 57 5.9392e-07 1.59641e-06 0.001168 1 0 DNM1 1759 broad.mit.edu 37 9 130988359 130988359 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:130988359A>G ENST00000393594.3 + 10 1296 c.1242A>G c.(1240-1242)aaA>aaG p.K414K DNM1_ENST00000486160.1_Silent_p.K414K|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000475805.1_Silent_p.K414K|DNM1_ENST00000341179.7_Intron Q05193 DYN1_HUMAN dynamin 1 414 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CCACAGTGAAAAAGCAGGTGC 0.562000 9 32 0 0 0.000443 0 0 HBD 3045 broad.mit.edu 37 11 5255583 5255583 + Missense_Mutation SNP C C A rs34289459 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5255583C>A ENST00000380299.3 - 1 295 c.81G>T c.(79-81)gaG>gaT p.E27D HBD_ENST00000292901.3_Missense_Mutation_p.E27D NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 27 E -> D (in Puglia; dbSNP:rs34289459). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCCAGGGCCTCACCACCAA 0.517000 28 67 3.80469e-20 1.20935e-19 0.001786 1 0 PCDHB13 56123 broad.mit.edu 37 5 140594219 140594219 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140594219C>G ENST00000341948.4 + 1 711 c.524C>G c.(523-525)cCc>cGc p.P175R NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 175 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAATCAGCCCCAACTCCTAT 0.493000 25 43 0 0 0.001061 0 0 USH2A 7399 broad.mit.edu 37 1 216258196 216258196 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:216258196C>A ENST00000366943.2 - 25 5397 c.5011G>T c.(5011-5013)Ggc>Tgc p.G1671C RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1671C|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1671 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGAGACAGCCCACAAAACCT 0.323000 HNSCC(13;0.011) 27 78 4.7796e-09 1.35761e-08 0.004656 1 0 RTN4 57142 broad.mit.edu 37 2 55252626 55252626 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:55252626T>A ENST00000337526.6 - 3 2852 c.2609A>T c.(2608-2610)gAg>gTg p.E870V RTN4_ENST00000357376.3_Missense_Mutation_p.E664V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E664V|RTN4_ENST00000405240.1_Missense_Mutation_p.E664V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E664V|RTN4_ENST00000354474.6_Missense_Mutation_p.E638V NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 870 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TGTAGGGAACTCATCTATAAT 0.328000 8 51 0 0 0.003080 0 0 USP35 57558 broad.mit.edu 37 11 77920009 77920009 + Splice_Site SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:77920009G>T ENST00000529308.1 + 9 1853 c.1592_splice c.e9+1 p.R531_splice USP35_ENST00000530267.1_Splice_Site_p.R99_splice|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Splice_Site_p.R262_splice|USP35_ENST00000441408.2_Splice_Site_p.R117_splice NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 531 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CTGCTGGATCGGTAAGGGGGC 0.602000 9 77 1.12685e-05 2.89297e-05 0.004482 1 0 CES2 8824 broad.mit.edu 37 16 66969362 66969362 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:66969362C>G ENST00000317091.4 + 1 1000 c.16C>G c.(16-18)Cgc>Ggc p.R6G CES2_ENST00000417689.1_Missense_Mutation_p.R6G NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 0 Missing (in Ref. 2; AA sequence). catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TGCTCAGTCCCGCTCTCCTAC 0.647000 11 129 0 0 0.000978 0 0 ICAM1 3383 broad.mit.edu 37 19 10385697 10385697 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:10385697C>A ENST00000264832.3 + 2 649 c.324C>A c.(322-324)acC>acA p.T108T CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 108 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CCTTCCTCACCGTGTACTGTG 0.552000 22 104 3.62473e-10 1.05579e-09 0.001882 1 0 CYP11A1 1583 broad.mit.edu 37 15 74636273 74636273 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:74636273T>C ENST00000358632.4 - 4 907 c.212A>G c.(211-213)gAg>gGg p.E71G CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E71G|CYP11A1_ENST00000268053.6_Missense_Mutation_p.E229G NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 229 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TCGCTGGGCCTCGGGGTTCAC 0.572000 3 138 0 0 0.004672 0 0 AGO3 192669 broad.mit.edu 37 1 36509068 36509068 + Frame_Shift_Del DEL C C - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:36509068delC ENST00000373191.4 + 17 2542 c.2193delC c.(2191-2193)atfs p.I731fs AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Frame_Shift_Del_p.I497fs NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GTGGCAATATCCCAGCTGGAA 0.353 14 25 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109815846 109815858 + Frame_Shift_Del DEL AGAGAGTAGTGGC AGAGAGTAGTGGC - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:109815846_109815858delAGAGAGTAGTGGC ENST00000271332.3 + 32 8458_8470 c.8397_8409delAGAGAGTAGTGGC c.(8395-8409)aafs p.KESSG2799fs CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2799 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC 0.638 16 72 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152277899 152277899 + Frame_Shift_Del DEL G G - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152277899delG ENST00000368799.1 - 3 9498 c.9463delC c.(9463-9465)agfs p.Q3155fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3155 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCTGACTGCCCACGGGAG 0.557 Ichthyosis 30 225 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152278871 152278871 + Frame_Shift_Del DEL G G - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152278871delG ENST00000368799.1 - 3 8526 c.8491delC c.(8491-8493)agfs p.Q2831fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2831 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCTGACTGCCCACGGGAG 0.572 Ichthyosis 66 671 --- --- --- --- C1orf186 440712 broad.mit.edu 37 1 206243246 206243247 + Frame_Shift_Ins INS - - G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:206243246_206243247insG ENST00000331555.5 - 3 653_654 c.15_16insC c.(13-18)gttggafs p.G6fs NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 6 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGACCTCCATGACTCTGTTGG 0.525 10 68 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10912735 10912738 + Splice_Site DEL AAGT AAGT - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:10912735_10912738delAAGT ENST00000381661.3 + 8 746_747 c.638_splice c.e8+1 p.213_splice ATP6V1C2_ENST00000272238.4_Splice_Site_p.213_splice NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 213 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TCGATCAACCAAGTAAGTGAGACC 0.525 47 254 --- --- --- --- APOB 338 broad.mit.edu 37 2 21231819 21231819 + Frame_Shift_Del DEL T T - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:21231819delT ENST00000233242.1 - 26 8048 c.7921delA c.(7921-7923)tcfs p.I2641fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2641 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 p.I2641L(1) 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) CTGGATGGGATTTTTATATTT 0.358 19 122 --- --- --- --- LAMA4 3910 broad.mit.edu 37 6 112512959 112512959 + Frame_Shift_Del DEL A A - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:112512959delA ENST00000230538.7 - 6 994 c.597delT c.(595-597)ttfs p.F199fs LAMA4_ENST00000389463.4_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.F199fs NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 199 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACAATCTTCAAAGATCAGGT 0.483 11 34 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103126741 103126742 + Frame_Shift_Ins INS - - A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:103126741_103126742insA ENST00000428762.1 - 61 10044_10045 c.9885_9886insT c.(9883-9888)tgggcafs p.WA3295fs CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Frame_Shift_Ins_p.WA3295fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.WA3295fs NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3295 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCAGCTGCCCACAGCCACTTC 0.515 64 82 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 4 3 --- --- --- --- CELP 1057 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 3 3 --- --- --- --- TROAP 10024 broad.mit.edu 37 12 49722998 49722998 + Frame_Shift_Del DEL C C - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:49722998delC ENST00000551245.1 + 10 1186 c.1075delC c.(1075-1077)ccfs p.P359fs TROAP_ENST00000547923.1_Frame_Shift_Del_p.P67fs|TROAP_ENST00000257909.3_Frame_Shift_Del_p.P359fs Q12815 TROAP_HUMAN trophinin associated protein 359 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CCGGTTCACACCCATGCCATC 0.547 40 227 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39343779 39343793 + In_Frame_Del DEL AGTGCAGTTCAACCC AGTGCAGTTCAACCC - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:39343779_39343793delAGTGCAGTTCAACCC ENST00000280481.7 + 4 5691_5705 c.5475_5489delAGTGCAGTTCAACCC c.(5473-5490)caa>ca p.QVQFNP1825del NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1825 Calx-beta 1. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC 0.479 8 46 --- --- --- --- RILP 83547 broad.mit.edu 37 17 1552568 1552570 + In_Frame_Del DEL CCT CCT - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:1552568_1552570delCCT ENST00000301336.6 - 3 625_627 c.353_355delAGG c.(352-357)gtc>g p.EV118del NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 118 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGGTCCGTGACCTCCTTGAGCTG 0.764 4 3 --- --- --- --- RAD51C 5889 broad.mit.edu 37 17 56772501 56772501 + Frame_Shift_Del DEL A A - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:56772501delA ENST00000337432.4 + 2 426 c.355delA c.(355-357)aafs p.K119fs RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Frame_Shift_Del_p.K119fs|RAD51C_ENST00000583539.1_Frame_Shift_Del_p.K119fs NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 119 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCCCTTAATGAAAACAACAGA 0.398 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 15 30 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 7 330 --- --- --- ---