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 C8A 731 broad.mit.edu 37 1 57351757 57351757 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:57351757G>A ENST00000361249.3 + 7 1109 c.1013G>A c.(1012-1014)gGc>gAc p.G338D NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 338 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AATGACTATGGCACCCATTAC 0.408000 15 58 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747283 121747283 + Nonsense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr2:121747283C>T ENST00000452319.1 + 14 3853 c.3793C>T c.(3793-3795)Cag>Tag p.Q1265* GLI2_ENST00000361492.4_Nonsense_Mutation_p.Q1265*|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1265 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) GGCCCTCAACCAGTTCCCCCA 0.627000 5 10 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39883623 39883623 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr22:39883623G>A ENST00000341184.6 + 2 486 c.271G>A c.(271-273)Gag>Aag p.E91K NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 91 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CAAGGCGGCCGAGGAGCTCCA 0.697000 8 30 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101248192 101248192 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:101248192C>T ENST00000369162.2 - 6 1455 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K ASCC3_ENST00000522650.1_Missense_Mutation_p.E371K NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ATCCGCAATTCCTTAGGATCA 0.353000 12 73 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21771644 21771644 + Missense_Mutation SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:21771644G>T ENST00000206660.6 + 5 742 c.742G>T c.(742-744)Gat>Tat p.D248Y RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D248Y|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D221Y|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D221Y Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 248 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GTGGCCTAAAGATGAAAATTT 0.483000 10 37 0.00829132 0.00895844 1 1 0 MYO1C 4641 broad.mit.edu 37 17 1375308 1375308 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:1375308G>A ENST00000359786.5 - 19 2238 c.1914C>T c.(1912-1914)gaC>gaT p.D638D MYO1C_ENST00000438665.2_Silent_p.D619D|MYO1C_ENST00000575158.1_Silent_p.D603D|MYO1C_ENST00000361007.2_Silent_p.D603D|MYO1C_ENST00000545534.2_Silent_p.D614D NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 638 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCAGCACCTCGTCAAAGCGGC 0.677000 33 38 0 0 1 0 0 UFC1 51506 broad.mit.edu 37 1 161127972 161127972 + Missense_Mutation SNP T T A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:161127972T>A ENST00000368003.5 + 5 640 c.394T>A c.(394-396)Ttt>Att p.F132I RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 132 protein ufmylation protein binding|UFM1 conjugating enzyme activity endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGTGCCCAAATTTGGACTAGC 0.463000 27 61 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80545111 80545111 + Silent SNP A A T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:80545111A>T ENST00000335255.5 + 8 1923 c.1749A>T c.(1747-1749)gcA>gcT p.A583A NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 583 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CTCACGTGGCATCAGTCCCCA 0.572000 8 28 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21907503 21907503 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr7:21907503C>T ENST00000328843.6 + 73 11769 c.11738C>T c.(11737-11739)gCg>gTg p.A3913V DNAH11_ENST00000409508.3_Missense_Mutation_p.A3906V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3913 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAACTGGGTGCGAAGTATGTG 0.413000 Kartagener syndrome 3 3 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 42 0 0 1 0 0 IL1RAP 3556 broad.mit.edu 37 3 190345171 190345171 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr3:190345171G>A ENST00000412504.2 + 7 1087 c.835G>A c.(835-837)Gag>Aag p.E279K IL1RAP_ENST00000422485.1_Missense_Mutation_p.E279K|IL1RAP_ENST00000434491.1_Missense_Mutation_p.E138K|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E279K|IL1RAP_ENST00000317757.3_Missense_Mutation_p.E279K|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E279K|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E279K|IL1RAP_ENST00000422940.1_Missense_Mutation_p.E279K|IL1RAP_ENST00000072516.3_Missense_Mutation_p.E279K Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 279 Ig-like C2-type 3. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TTCTCGCAATGAGGTTTGGTG 0.383000 25 86 0 0 1 0 0 SNAI1 6615 broad.mit.edu 37 20 48600819 48600819 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr20:48600819G>A ENST00000244050.2 + 2 602 c.541G>A c.(541-543)Gtc>Atc p.V181I NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 181 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GCTGCCCTGCGTCTGCGGAAC 0.617000 4 22 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681032 100681032 + Missense_Mutation SNP C C T rs138732859 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr7:100681032C>T ENST00000306151.4 + 3 6399 c.6335C>T c.(6334-6336)aCg>aTg p.T2112M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2112 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) CTCAGCACCACGCCGGTGGCC 0.498000 44 261 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325943 31325943 + Missense_Mutation SNP C C G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr18:31325943C>G ENST00000269197.5 + 12 6131 c.6131C>G c.(6130-6132)cCt>cGt p.P2044R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2044 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ctacctccacctcTCCCTAAT 0.587000 4 7 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:115080343G>T ENST00000452722.3 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T NM_014333.3 NP_055148.3 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 28 2.56e-06 2.86476e-06 1 1 0 POLE2 5427 broad.mit.edu 37 14 50117071 50117071 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:50117071C>A ENST00000539565.2 - 16 1549 c.1331G>T c.(1330-1332)aGa>aTa p.R444I POLE2_ENST00000216367.5_Missense_Mutation_p.R470I|POLE2_ENST00000554396.1_Missense_Mutation_p.R470I|POLE2_ENST00000556584.1_5'UTR NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 470 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) AGGATACACTCTCAAAGCATA 0.423000 41 42 3.09479e-21 3.77805e-21 1 1 0 INHBC 3626 broad.mit.edu 37 12 57843705 57843705 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:57843705C>A ENST00000309668.2 + 2 1086 c.959C>A c.(958-960)aCg>aAg p.T320K NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 320 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 TGTGTACCCACGGCCCGGCGC 0.557000 24 21 1.1804e-14 1.40452e-14 1 1 0 ANK2 287 broad.mit.edu 37 4 114170943 114170943 + Nonsense_Mutation SNP T T A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr4:114170943T>A ENST00000357077.4 + 10 968 c.915T>A c.(913-915)tgT>tgA p.C305* ANK2_ENST00000394537.3_Nonsense_Mutation_p.C305*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.C284*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.C305* NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 305 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CACTTCACTGTGCTGCACGAA 0.453000 5 5 0 0 1 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780540 106780540 + RNA SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:106780540C>T ENST00000390612.2 - 0 395 CGGCCGTGTCCACGGCGGTCA 0.597000 4 248 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536306 1536306 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:1536306G>A ENST00000447419.2 - 3 1096 c.1071C>T c.(1069-1071)gaC>gaT p.D357D PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.D352D Q96A99 PTX4_HUMAN pentraxin 4, long 357 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GCCACTGGCCGTCCAGCAGCA 0.672000 6 20 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390079 48390079 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr10:48390079G>A ENST00000224600.4 - 1 912 c.799C>T c.(799-801)Cgg>Tgg p.R267W NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 267 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CTCAGCTTCCGGAGGTCCAGG 0.682000 3 24 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83839669 83839669 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr4:83839669G>A ENST00000302236.5 + 5 2355 c.2304G>A c.(2302-2304)ctG>ctA p.L768L LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 768 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) CAGAAAGTCTGTGTCGGGTCA 0.363000 21 59 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869221 22869221 + Missense_Mutation SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr22:22869221G>T ENST00000302097.3 - 2 986 c.734C>A c.(733-735)gCa>gAa p.A245E NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGACTCATTTGCTCTCTCTGG 0.423000 50 151 4.0306e-16 4.85739e-16 1 1 0 UTRN 7402 broad.mit.edu 37 6 144768799 144768799 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:144768799A>G ENST00000367545.3 + 15 1784 c.1784A>G c.(1783-1785)cAg>cGg p.Q595R NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 595 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAGATTGGCCAGGATGTGGGA 0.378000 10 58 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237513 56237513 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:56237513C>T ENST00000312240.2 - 1 501 c.461G>A c.(460-462)aGt>aAt p.S154N NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGCTGCCAGACTCGTCAGAAA 0.413000 20 67 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70489002 70489002 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:70489002C>A ENST00000310961.5 + 18 2058 c.1640C>A c.(1639-1641)aCt>aAt p.T547N RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.T542N Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 542 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCATGTGTACTCCATTGCCA 0.542000 14 58 7.93312e-07 8.9845e-07 1 1 0 SDPR 8436 broad.mit.edu 37 2 192700729 192700729 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr2:192700729C>T ENST00000304141.4 - 2 1527 c.1198G>A c.(1198-1200)Gcg>Acg p.A400T NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 400 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GATGTTAGCGCGTAGCTACCC 0.607000 13 30 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86808016 86808016 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr15:86808016C>A ENST00000441037.2 + 10 1571 c.1476C>A c.(1474-1476)caC>caA p.H492Q AGBL1_ENST00000389298.3_Missense_Mutation_p.H223Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.H492Q NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 492 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 TCTGGGGACACTGTCCCCCTC 0.493000 23 35 1.96895e-08 2.28495e-08 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070111 141070111 + RNA SNP T T C rs139643347 by1000genomes TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr9:141070111T>C ENST00000503395.1 + 0 1191 p.S75S(1) CCATGGACTCTGTGCGCTCGG 0.697000 4 35 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 6903441 6903441 + Silent SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr3:6903441C>T ENST00000486284.1 + 1 640 c.366C>T c.(364-366)ttC>ttT p.F122F GRM7_ENST00000389336.4_Silent_p.F122F|GRM7_ENST00000357716.4_Silent_p.F122F|GRM7_ENST00000403881.1_Silent_p.F122F|GRM7_ENST00000402647.2_Silent_p.F122F NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 122 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.F122L(1)|p.F122F(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CGCTTACTTTCGTCCAGGCGC 0.592000 7 30 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155015291 155015291 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:155015291C>T ENST00000295542.1 + 9 1069 c.973C>T c.(973-975)Cgt>Tgt p.R325C DCST1_ENST00000368419.2_Missense_Mutation_p.R325C|DCST1_ENST00000392480.1_Missense_Mutation_p.R325C|DCST1_ENST00000423025.2_Missense_Mutation_p.R300C NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 325 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCAGTCTATTCGTGGCCTGGA 0.562000 10 33 0 0 1 0 0 MLC1 23209 broad.mit.edu 37 22 50523212 50523212 + Silent SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr22:50523212C>T ENST00000311597.5 - 2 726 c.120G>A c.(118-120)tcG>tcA p.S40S MLC1_ENST00000395876.2_Silent_p.S40S|MLC1_ENST00000431262.2_Silent_p.S40S|MLC1_ENST00000450140.2_Silent_p.S40S|MLC1_ENST00000538737.1_Silent_p.S40S|MLC1_ENST00000535444.1_Intron NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 40 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) GCAGTCTCTTCGACAGCTGCA 0.647000 11 51 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789427 1789427 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr19:1789427G>A ENST00000539485.1 - 23 3041 c.2808C>T c.(2806-2808)gtC>gtT p.V936V ATP8B3_ENST00000525591.1_Silent_p.V889V|ATP8B3_ENST00000310127.6_Silent_p.V926V O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 926 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) 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) GGTACTTCTTGACCAGGGCCA 0.667000 8 13 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2088811 2088811 + Splice_Site SNP T T G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:2088811T>G ENST00000262113.4 + 33 4105 c.e33+2 MYOM2_ENST00000523438.1_Splice_Site|MYOM2_ENST00000520298.1_Splice_Site NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCGGACAAGGTAAGAGAATTC 0.368000 8 43 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746753 158746753 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:158746753C>A ENST00000339258.1 - 1 672 c.673G>T c.(673-675)Gtg>Ttg p.V225L NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) ATCTTCAGCACAGCCCCAATG 0.403000 6 37 0.0293803 0.0310309 1 1 0 ING2 3622 broad.mit.edu 37 4 184431500 184431500 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr4:184431500A>G ENST00000302327.3 + 2 440 c.238A>G c.(238-240)Aaa>Gaa p.K80E ING2_ENST00000434682.2_Missense_Mutation_p.K40E NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 80 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AAACCAGAAGAAACGTCTACA 0.318000 24 86 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459431 27459431 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr10:27459431G>A ENST00000375946.4 + 8 2146 c.1543G>A c.(1543-1545)Gat>Aat p.D515N MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.D515N|MASTL_ENST00000342386.6_Missense_Mutation_p.D515N NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 515 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCTTTTACTGATAAACAACA 0.353000 7 36 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727093 137727093 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr5:137727093G>A ENST00000314358.5 + 8 1972 c.1772G>A c.(1771-1773)cGg>cAg p.R591Q KDM3B_ENST00000394866.1_Missense_Mutation_p.R247Q|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 591 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TCTGTGGACCGGAAAGTGCCT 0.532000 8 45 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237789061 237789061 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:237789061G>A ENST00000366574.2 + 40 6440 c.6123G>A c.(6121-6123)aaG>aaA p.K2041K RYR2_ENST00000360064.6_Silent_p.K2039K|RYR2_ENST00000542537.1_Silent_p.K2025K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2041 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCTGAAGAAGAAGCAAGCAG 0.443000 8 18 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68540864 68540864 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:68540864C>T ENST00000265641.5 - 14 1763 c.1609G>A c.(1609-1611)Gca>Aca p.A537T CPT1A_ENST00000539743.1_Missense_Mutation_p.A537T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Missense_Mutation_p.A537T|CPT1A_ENST00000540367.1_Missense_Mutation_p.A537T NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 537 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AGAAGATTTGCGGTGTTCAGG 0.473000 4 192 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21969072 21969072 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:21969072G>A ENST00000298717.4 - 5 1250 c.1099C>T c.(1099-1101)Cga>Tga p.R367* NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 367 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) GGGAAGAGTCGGTCTGCACTG 0.517000 3 18 0 0 1 0 0 MFGE8 4240 broad.mit.edu 37 15 89449896 89449896 + Silent SNP G G A rs1042915 byFrequency TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr15:89449896G>A ENST00000539437.1 - 5 613 c.477C>T c.(475-477)caC>caT p.H159H MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.H167H|MFGE8_ENST00000268151.7_Silent_p.H167H|MFGE8_ENST00000566497.1_Silent_p.H167H|MFGE8_ENST00000542878.1_Silent_p.H123H Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 167 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) AATCGAATTCGTGTCCATTAA 0.512000 13 49 0 0 1 0 0 LMF1 64788 broad.mit.edu 37 16 1004649 1004649 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:1004649C>A ENST00000262301.11 - 2 229 c.211G>T c.(211-213)Gct>Tct p.A71S LMF1_ENST00000399843.2_Missense_Mutation_p.A71S|LMF1_ENST00000539379.1_Missense_Mutation_p.A64S|LMF1_ENST00000543238.1_Intron|LMF1_ENST00000568897.1_5'UTR NM_022773.2 NP_073610.2 Q96S06 LMF1_HUMAN lipase maturation factor 1 71 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) TGATGGAAAGCCACCAGGAAT 0.537000 4 30 0.150653 0.153929 1 1 0 SLC25A47 283600 broad.mit.edu 37 14 100793604 100793604 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:100793604G>A ENST00000361529.3 + 4 302 c.224G>A c.(223-225)cGc>cAc p.R75H SLC25A47_ENST00000557052.1_5'UTR NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 75 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 GGCACCTACCGCCACTGCCTG 0.662000 16 61 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595043 140595043 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr5:140595043G>A ENST00000341948.4 + 1 1535 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 450 Cadherin 4. 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) CAACGCTCCCGCCTTCACCCA 0.552000 27 99 0 0 1 0 0 PSMC5 5705 broad.mit.edu 37 17 61908424 61908424 + Silent SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:61908424C>A ENST00000310144.6 + 8 1016 c.708C>A c.(706-708)gtC>gtA p.V236V PSMC5_ENST00000581882.1_Silent_p.V228V|PSMC5_ENST00000375812.4_Silent_p.V228V|PSMC5_ENST00000580864.1_Silent_p.V228V NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 236 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 AGCTGTTTGTCATGGCACGGG 0.557000 6 37 0.0293803 0.0310309 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121258 38121258 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr22:38121258C>T ENST00000406386.3 + 7 2950 c.2695C>T c.(2695-2697)Cgt>Tgt p.R899C NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 899 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ATCTCCCCATCGTACTAACAA 0.542000 25 104 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806059 97806059 + Missense_Mutation SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr3:97806059G>T ENST00000358642.2 + 1 43 c.43G>T c.(43-45)Gtt>Ttt p.V15F NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 GACAGAGTTTGTTCTCACAGG 0.408000 27 131 1.13719e-10 1.3362e-10 1 1 0 FN1 2335 broad.mit.edu 37 2 216248846 216248846 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr2:216248846G>A ENST00000354785.4 - 30 5160 c.4791C>T c.(4789-4791)agC>agT p.S1597S FN1_ENST00000357867.4_Silent_p.S1506S|FN1_ENST00000443816.1_Silent_p.S1506S|FN1_ENST00000345488.5_Silent_p.S1506S|FN1_ENST00000356005.4_Silent_p.S1506S|FN1_ENST00000323926.6_Silent_p.S1597S|FN1_ENST00000432072.2_Silent_p.S1597S|FN1_ENST00000446046.1_Silent_p.S1506S|FN1_ENST00000346544.3_Silent_p.S1506S|FN1_ENST00000336916.4_Silent_p.S1506S|FN1_ENST00000359671.1_Silent_p.S1506S|FN1_ENST00000357009.2_Silent_p.S1506S|FN1_ENST00000421182.1_Silent_p.S1506S P02751 FINC_HUMAN fibronectin 1 1600 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.S1506S(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTTAAGGCCGCTGATGGTAG 0.493000 10 31 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40671785 40671785 + Missense_Mutation SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:40671785G>T ENST00000298910.7 + 17 2095 c.2037G>T c.(2035-2037)atG>atT p.M679I LRRK2_ENST00000343742.2_Missense_Mutation_p.M679I NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 679 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCCATCAAATGTCTTCCAATA 0.343000 13 43 0.00185496 0.00202751 1 1 0 RNF220 55182 broad.mit.edu 37 1 45101721 45101721 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:45101721C>T ENST00000355387.2 + 8 1463 c.1013C>T c.(1012-1014)gCt>gTt p.A338V RNF220_ENST00000443020.2_Missense_Mutation_p.A125V|TMEM53_ENST00000372242.3_3'UTR|TMEM53_ENST00000372243.3_3'UTR|RNF220_ENST00000361799.2_Missense_Mutation_p.A338V|RNF220_ENST00000372247.2_Missense_Mutation_p.A338V|TMEM53_ENST00000372244.3_3'UTR Q5VTB9 RN220_HUMAN ring finger protein 220 338 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TCCTGCATGGCTGAGGATGAT 0.577000 22 81 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 3 70 0 0 1 0 0 LMF1 64788 broad.mit.edu 37 16 1004650 1004650 + Silent SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:1004650C>A ENST00000262301.11 - 2 228 c.210G>T c.(208-210)gtG>gtT p.V70V LMF1_ENST00000399843.2_Silent_p.V70V|LMF1_ENST00000539379.1_Silent_p.V63V|LMF1_ENST00000543238.1_Intron|LMF1_ENST00000568897.1_5'UTR NM_022773.2 NP_073610.2 Q96S06 LMF1_HUMAN lipase maturation factor 1 70 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) GATGGAAAGCCACCAGGAATG 0.532000 4 30 0.150653 0.153929 1 1 0 RP11-383H13.1 0 broad.mit.edu 37 8 72755827 72755827 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:72755827G>A ENST00000537896.1 + 1 461 c.191G>A c.(190-192)cGc>cAc p.R64H RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000325509.4_Intron lung(1) 1 GCCCAGGAGCGCCCTGGGTAT 0.617000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 17 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61597343 61597343 + Silent SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr18:61597343C>T ENST00000238508.3 + 6 614 c.555C>T c.(553-555)aaC>aaT p.N185N NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TTCTGGTGAACGCCCTATACT 0.393000 16 46 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48226459 48226459 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:48226459G>A ENST00000394747.1 - 19 3027 c.2678C>T c.(2677-2679)aCg>aTg p.T893M ABCC11_ENST00000356608.2_Missense_Mutation_p.T893M|ABCC11_ENST00000353782.5_Missense_Mutation_p.T893M|ABCC11_ENST00000394748.1_Missense_Mutation_p.T893M|ABCC11_ENST00000537808.1_3'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 893 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTGCAGGGCCGTGGATGCCTT 0.552000 7 38 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105441799 105441799 + Silent SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:105441799G>A ENST00000351513.2 - 5 1056 c.924C>T c.(922-924)ccC>ccT p.P308P NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 308 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.P308P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGAGGAAGTCGGGTGTTGAGG 0.502000 17 47 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128335737 128335737 + Silent SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr2:128335737C>T ENST00000389524.4 + 9 932 c.879C>T c.(877-879)aaC>aaT p.N293N MYO7B_ENST00000428314.1_Silent_p.N293N|MYO7B_ENST00000409816.2_Silent_p.N293N Q6PIF6 MYO7B_HUMAN myosin VIIB 293 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGGGCTCAACGACGCCAAGG 0.632000 3 23 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086503 56086503 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:56086503G>A ENST00000312711.1 + 1 721 c.721G>A c.(721-723)Gga>Aga p.G241R NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTCTACCTGTGGAGCCCACCT 0.443000 20 40 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62571433 62571433 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:62571433C>T ENST00000531709.2 - 2 159 c.46G>A c.(46-48)Gtt>Att p.V16I NXF1_ENST00000532297.1_Missense_Mutation_p.V16I|NXF1_ENST00000439713.2_Missense_Mutation_p.V16I|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.V16I NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 16 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGAAATTAACGCGTTCATCA 0.458000 27 60 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197430482 197430482 + Silent SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr3:197430482C>A ENST00000273582.5 - 5 872 c.327G>T c.(325-327)ctG>ctT p.L109L KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.L169L|KIAA0226_ENST00000296343.5_Silent_p.L169L|KIAA0226_ENST00000389665.5_Silent_p.L169L NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 169 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CCAGGCACTGCAGCATGGCCG 0.567000 3 29 1 1 1 1 0 TNNI1 7135 broad.mit.edu 37 1 201382240 201382240 + Missense_Mutation SNP G G A rs2296695 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:201382240G>A ENST00000361379.4 - 6 291 c.199C>T c.(199-201)Cgg>Tgg p.R67W TNNI1_ENST00000555948.1_Missense_Mutation_p.R67W|TNNI1_ENST00000336092.4_Missense_Mutation_p.R67W|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67W NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 67 R -> W (in dbSNP:rs2296695). muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 TGCAGCTCCCGGCACAGGTCC 0.592000 61 181 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108434828 108434828 + Missense_Mutation SNP C C G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr10:108434828C>G ENST00000263054.6 - 14 1926 c.1919G>C c.(1918-1920)gGa>gCa p.G640A SORCS1_ENST00000344440.6_Missense_Mutation_p.G640A|SORCS1_ENST00000369698.1_Missense_Mutation_p.G175A NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 640 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTCTCTTCTCCAGGCTCACC 0.383000 13 65 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010646 70010646 + RNA SNP G G A rs149870591 by1000genomes TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr16:70010646G>A ENST00000531894.1 - 0 3748 NR_003610.1 CTGTAGGGCCGAAGAAGGGAA 0.478000 4 73 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107145543 107145543 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr13:107145543C>T ENST00000245323.4 - 5 996 c.847G>A c.(847-849)Ggc>Agc p.G283S NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 283 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GGCTCTGAGCCGTTGTTGTTG 0.617000 9 43 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300147 161300147 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr5:161300147C>T ENST00000428797.2 + 6 635 c.280C>T c.(280-282)Cgt>Tgt p.R94C GABRA1_ENST00000023897.6_Missense_Mutation_p.R94C|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94C|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94C|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94C|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94C NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 94 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R94C(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TGTATTTTTCCGTCAAAGCTG 0.373000 52 69 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763461 77763461 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:77763461G>A ENST00000521891.2 + 10 4752 c.4304G>A c.(4303-4305)cGt>cAt p.R1435H ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1409H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1390H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1390H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1390 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1435H(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGCAGTTTCCGTACATTCCAG 0.468000 HNSCC(33;0.089) 7 16 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21448624 21448624 + Missense_Mutation SNP C C A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:21448624C>A ENST00000307378.6 - 11 1898 c.1178G>T c.(1177-1179)tGg>tTg p.W393L SLCO1A2_ENST00000390670.3_Missense_Mutation_p.W391L|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.W261L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.W393L|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.W261L NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 393 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TAAGGATAACCAACATCCTAT 0.308000 12 69 3.07112e-06 3.39629e-06 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18906820 18906820 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr9:18906820C>T ENST00000380548.4 + 28 5431 c.5092C>T c.(5092-5094)Cgc>Tgc p.R1698C ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.R399C NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1698 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TGTGCATGCCCGCACCAACAA 0.617000 10 40 0 0 1 0 0 BIN3 55909 broad.mit.edu 37 8 22481490 22481490 + Missense_Mutation SNP G G A rs11550511 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:22481490G>A ENST00000276416.6 - 8 621 c.553C>T c.(553-555)Cgc>Tgc p.R185C BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Missense_Mutation_p.R131C|BIN3_ENST00000399977.4_Missense_Mutation_p.R137C NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 185 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CCGTAGAAGCGCGGCATCTCC 0.612000 4 18 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936212 4936212 + Missense_Mutation SNP G G A TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:4936212G>A ENST00000322013.3 - 1 710 c.682C>T c.(682-684)Cgc>Tgc p.R228C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCACGGTGCGCAGGATCAGA 0.522000 3 14 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124092 12124092 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:12124092A>G ENST00000379388.2 + 4 4396 c.4064A>G c.(4063-4065)aAt>aGt p.N1355S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1355 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AATACTCTGAATGTTCCTGGA 0.428000 12 56 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511886 195511886 + Missense_Mutation SNP G G C TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr3:195511886G>C ENST00000463781.3 - 2 7024 c.6565C>G c.(6565-6567)Cac>Gac p.H2189D MUC4_ENST00000475231.1_Missense_Mutation_p.H2189D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 978 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGCGTGACCTGTGGAT 0.602000 2 1 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103197509 103197509 + Silent SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr7:103197509C>T ENST00000424685.2 - 38 5871 c.5712G>A c.(5710-5712)acG>acA p.T1904T RELN_ENST00000343529.5_Silent_p.T1904T|RELN_ENST00000428762.1_Silent_p.T1904T P78509 RELN_HUMAN reelin 1904 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) AAAGTATATTCGTTGTTTGAG 0.403000 49 53 0 0 1 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778038 27778038 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:27778038A>G ENST00000369163.2 + 1 197 c.187A>G c.(187-189)Atc>Gtc p.I63V NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 63 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 CGAGCTGCTGATCAGAAAGCT 0.627000 5 36 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37863257 37863257 + Missense_Mutation SNP G G T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:37863257G>T ENST00000269571.5 + 2 247 c.88G>T c.(88-90)Gac>Tac p.D30Y ERBB2_ENST00000584450.1_Missense_Mutation_p.D30Y|ERBB2_ENST00000540042.1_5'UTR|ERBB2_ENST00000540147.1_5'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.D15Y|ERBB2_ENST00000578199.1_5'UTR|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000406381.2_5'UTR|ERBB2_ENST00000584601.1_5'UTR P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 30 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CACCGGCACAGACATGAAGCT 0.627000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 17 1203 0.0581538 0.0607384 1 1 0 ATP6V0A1 535 broad.mit.edu 37 17 40646475 40646475 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:40646475A>G ENST00000343619.4 + 12 1421 c.1298A>G c.(1297-1299)cAg>cGg p.Q433R ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.Q79R|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Q390R|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q433R|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Q390R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q440R|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q433R NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 433 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) ATCCTTTCCCAGAAGAATGAG 0.378000 23 86 0 0 1 0 0 CD63 967 broad.mit.edu 37 12 56119365 56119365 + Missense_Mutation SNP T T C TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:56119365T>C ENST00000549117.1 - 8 1133 c.697A>G c.(697-699)Agt>Ggt p.S233G CD63_ENST00000548160.1_Missense_Mutation_p.S140G|CD63_ENST00000550776.1_Missense_Mutation_p.S151G|CD63_ENST00000257857.4_Missense_Mutation_p.S233G|CD63_ENST00000420846.3_Missense_Mutation_p.S231G|CD63_ENST00000552067.1_Missense_Mutation_p.S140G|CD63_ENST00000552692.1_Missense_Mutation_p.S233G|CD63_ENST00000552754.1_Missense_Mutation_p.S210G|CD63_ENST00000546939.1_Missense_Mutation_p.S151G|CD63_ENST00000548898.1_Missense_Mutation_p.S140G NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 233 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 TCGTAGCCACTTCTGATACTC 0.493000 514 47 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228582549 228582549 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:228582549C>T ENST00000493030.2 - 5 4598 c.889G>A c.(889-891)Gat>Aat p.D297N TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.D422N|RP11-245P10.8_ENST00000602963.1_RNA Q96F44 TRI11_HUMAN tripartite motif containing 11 422 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) AGTGACCCATCGGTGGCACTG 0.617000 6 23 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23115870 23115870 + Missense_Mutation SNP C C T TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr8:23115870C>T ENST00000397677.1 + 7 1516 c.868C>T c.(868-870)Cgg>Tgg p.R290W CHMP7_ENST00000313219.7_Missense_Mutation_p.R290W|CHMP7_ENST00000520102.1_3'UTR NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 290 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGCCAAGCAACGGACAGAGAA 0.572000 24 77 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169267969 169267969 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:169267969A>G ENST00000367811.3 - 6 729 c.473T>C c.(472-474)aTt>aCt p.I158T NME7_ENST00000472647.1_Missense_Mutation_p.I122T|NME7_ENST00000469474.1_5'UTR NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 158 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) CATGGCAATAATAGGACCAGT 0.403000 11 43 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75557632 75557632 + Silent SNP A A C TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr10:75557632A>C ENST00000604729.1 + 19 4053 c.3756A>C c.(3754-3756)acA>acC p.T1252T ZSWIM8_ENST00000603114.1_Silent_p.T1214T|ZSWIM8_ENST00000604524.1_Silent_p.T1247T|ZSWIM8_ENST00000398706.2_Silent_p.T1252T|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000605216.1_Silent_p.T1247T|RP11-574K11.31_ENST00000603027.1_3'UTR zinc finger, SWIM-type containing 8 TGGCGAAGACAGTGCTGATCA 0.592000 9 39 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 4 6 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652093 36652094 + Frame_Shift_Ins INS - - C TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:36652093_36652094insC ENST00000405375.1 + 2 450_451 c.215_216insC c.(214-219)ggcctgfs p.L73fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L73fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L107fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L73fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 73 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CGGGGCCTTGGCCTGCCCAAGC 0.683 9 20 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652097 36652098 + Frame_Shift_Ins INS - - C TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr6:36652097_36652098insC ENST00000405375.1 + 2 454_455 c.219_220insC c.(220-222)cccfs p.P74fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P74fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P108fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P74fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 74 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GCCTTGGCCTGCCCAAGCTCTA 0.673 11 17 --- --- --- --- C11orf24 53838 broad.mit.edu 37 11 68029170 68029172 + In_Frame_Del DEL CTT CTT - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr11:68029170_68029172delCTT ENST00000304271.6 - 4 1693_1695 c.1291_1293delAAG c.(1291-1293)aagdel p.K431del C11orf24_ENST00000533310.1_In_Frame_Del_p.K96del NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 431 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 GGGTGTAGTCCTTCTTCTTGTAG 0.557 10 59 --- --- --- --- ETNK1 55500 broad.mit.edu 37 12 22778385 22778385 + Frame_Shift_Del DEL C C - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:22778385delC ENST00000266517.4 + 1 377 c.288delC c.(286-288)gtcfs p.V96fs ETNK1_ENST00000335148.3_Frame_Shift_Del_p.V96fs NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 96 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ACATCCACGTCCCTCCCGGCT 0.687 2 4 --- --- --- --- DENND5B 160518 broad.mit.edu 37 12 31633175 31633175 + Frame_Shift_Del DEL T T - rs35986884 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:31633175delT ENST00000389082.5 - 3 516 c.252delA c.(250-252)aaafs p.K84fs DENND5B_ENST00000306833.6_Frame_Shift_Del_p.K119fs|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Frame_Shift_Del_p.K106fs|DENND5B_ENST00000536562.1_Frame_Shift_Del_p.K119fs NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 84 UDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGATAGCCCTTTAGGCATGC 0.358 2 4 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80690713 80690713 + Frame_Shift_Del DEL T T - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr12:80690713delT ENST00000458043.2 + 26 3014 c.3008delT c.(3007-3009)attfs p.I1003fs OTOGL_ENST00000547103.1_Frame_Shift_Del_p.I1003fs NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GACACTGAAATTTACCTGAAT 0.328 2 4 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 9 0 --- --- --- --- FBLN5 10516 broad.mit.edu 37 14 92343870 92343870 + Frame_Shift_Del DEL C C - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr14:92343870delC ENST00000267620.10 - 11 1438 c.1269delG c.(1267-1269)cagfs p.Q423fs FBLN5_ENST00000342058.4_Frame_Shift_Del_p.Q382fs|FBLN5_ENST00000556154.1_Frame_Shift_Del_p.Q387fs Q9UBX5 FBLN5_HUMAN fibulin 5 382 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CAGATTTGATCTGGAAAATGT 0.547 12 65 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)cagdel p.Q310del MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 42 827 --- --- --- --- MYH14 79784 broad.mit.edu 37 19 50795576 50795578 + In_Frame_Del DEL TCT TCT - TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98111e40-090b-4781-ac04-2b121d138da9 83c51281-6330-4c1e-90c6-49015a1fd1f6 g.chr19:50795576_50795578delTCT ENST00000440075.2 + 37 5233_5235 c.5186_5188delTCT c.(5185-5190)atcttc>atc p.F1730del MYH14_ENST00000262269.8_In_Frame_Del_p.F1730del|MYH14_ENST00000425460.1_In_Frame_Del_p.F1697del|MYH14_ENST00000376970.2_In_Frame_Del_p.F1722del|MYH14_ENST00000601313.1_In_Frame_Del_p.F1730del|MYH14_ENST00000598205.1_In_Frame_Del_p.F1697del|MYH14_ENST00000596571.1_In_Frame_Del_p.F1689del Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1689 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CGGGAGGAGATCTTCTCCCAGAA 0.635 3 4 --- --- --- ---