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 CDC5L 988 broad.mit.edu 37 6 44387238 44387238 + Missense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:44387238G>T ENST00000371477.3 + 9 1444 c.1145G>T c.(1144-1146)gGa>gTa p.G382V NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 382 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTGAAAGGTGGACTTAATACC 0.443000 19 52 1.01871e-10 1.10361e-10 1 1 0 ESR1 2099 broad.mit.edu 37 6 152163816 152163816 + Silent SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:152163816C>A ENST00000440973.1 + 4 907 c.537C>A c.(535-537)gcC>gcA p.A179A ESR1_ENST00000443427.1_Silent_p.A179A|ESR1_ENST00000206249.3_Silent_p.A179A|ESR1_ENST00000338799.5_Silent_p.A179A|ESR1_ENST00000456483.2_Silent_p.A179A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Silent_p.A6A NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 179 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TGGAATCTGCCAAGGAGACTC 0.498000 12 50 0.00010058 0.000102151 1 1 0 HSD3B7 80270 broad.mit.edu 37 16 30998261 30998261 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr16:30998261G>A ENST00000297679.5 + 6 725 c.632G>A c.(631-633)cGc>cAc p.R211H HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 211 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity p.R211H(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAGGGCCTGCGCCTGGGAGGT 0.662000 33 43 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582405 55582405 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr10:55582405G>A ENST00000361849.3 - 34 5481 c.5087C>T c.(5086-5088)gCt>gTt p.A1696V PCDH15_ENST00000395433.1_Missense_Mutation_p.A1671V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1654V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1691V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1694V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1625V|PCDH15_ENST00000395440.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1694 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGAACACTCAGCAGGAGAACT 0.418000 HNSCC(58;0.16) 19 54 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468653 56468653 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:56468653G>C ENST00000288221.6 - 2 638 c.383C>G c.(382-384)tCc>tGc p.S128C NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 128 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTGATGATGGGATGAGCCAGT 0.507000 55 49 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2718395 2718395 + Silent SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr18:2718395A>G ENST00000320876.6 + 19 2759 c.2421A>G c.(2419-2421)agA>agG p.R807R RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.R807R NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 807 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ATGCAGGAAGACCACTACCAT 0.299000 26 276 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171763 102171763 + Splice_Site SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:102171763C>A ENST00000306176.1 + 3 255 c.154_splice c.e3-1 p.A52_splice ZPLD1_ENST00000491959.1_Splice_Site_p.A36_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.A36_splice NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 36 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TTTATTTCAGCTGAAAGAGAC 0.328000 26 14 2.48779e-11 2.71776e-11 1 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77509973 77509973 + Missense_Mutation SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:77509973C>A ENST00000477717.1 + 3 581 c.346C>A c.(346-348)Cag>Aag p.Q116K NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 116 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 CCAGATTGACCAGACAGAGTG 0.617000 21 24 7.41877e-09 7.90525e-09 1 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99313207 99313207 + Missense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:99313207G>T ENST00000408927.3 + 6 726 c.613G>T c.(613-615)Gca>Tca p.A205S RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A157S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A156S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A206S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A206S NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 205 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GTGTCTTGTTGCATTTGGTAA 0.343000 T NUP98 T-ALL 9 24 3.09899e-07 3.22294e-07 1 1 0 ATAD2 29028 broad.mit.edu 37 8 124382228 124382228 + Missense_Mutation SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr8:124382228T>A ENST00000287394.5 - 7 871 c.764A>T c.(763-765)gAt>gTt p.D255V ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 255 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ttcaccatcatcttcatGTTC 0.348000 29 23 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281241 158281241 + Missense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:158281241G>T ENST00000296526.7 + 13 2562 c.2237G>T c.(2236-2238)gGa>gTa p.G746V GRIA2_ENST00000507898.1_Missense_Mutation_p.G699V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G699V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G746V|GRIA2_ENST00000393815.2_Missense_Mutation_p.G699V NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 746 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AAAGTTGGTGGAAACCTGGAT 0.438000 10 20 2.17888e-05 2.23035e-05 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11835376 11835376 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr17:11835376C>T ENST00000262442.3 + 64 12219 c.12151C>T c.(12151-12153)Ctc>Ttc p.L4051F DNAH9_ENST00000396001.2_Missense_Mutation_p.L363F|DNAH9_ENST00000454412.2_Missense_Mutation_p.L3975F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4051 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TAAGAGCATCCTCTTTGCTCT 0.493000 86 178 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74014589 74014589 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:74014589G>A ENST00000358602.4 - 8 1624 c.1508C>T c.(1507-1509)cCa>cTa p.P503L ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P390L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P503L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 503 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTCCATCAATGGTGTATAACC 0.423000 20 42 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27825376 27825376 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr17:27825376G>A ENST00000261716.3 + 12 1559 c.1040G>A c.(1039-1041)aGt>aAt p.S347N TAOK1_ENST00000536202.1_Missense_Mutation_p.S347N NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 347 Ser-rich. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACAGTTAATAGTGTTGGAAGT 0.408000 17 49 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937489 82937489 + Missense_Mutation SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr5:82937489T>A ENST00000274341.4 - 5 1741 c.891A>T c.(889-891)aaA>aaT p.K297N NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 297 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATCCGAGAATTTTCCAGGCAG 0.547000 5 190 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644901 53644901 + Missense_Mutation SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:53644901T>A ENST00000452676.2 - 5 1609 c.1183A>T c.(1183-1185)Acc>Tcc p.T395S ZNF347_ENST00000334197.7_Missense_Mutation_p.T394S|ZNF347_ENST00000601469.2_Missense_Mutation_p.T395S|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCACTGTGGGTTGCCTGATGG 0.413000 32 35 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991048 21991048 + Silent SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr14:21991048C>T ENST00000327430.3 - 2 3108 c.2814G>A c.(2812-2814)ccG>ccA p.P938P SALL2_ENST00000450879.2_Silent_p.P801P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 938 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AAGTGAAGAGCGGCCCCTCCT 0.607000 23 46 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16590360 16590360 + Silent SNP T T C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:16590360T>C ENST00000502640.1 - 4 652 c.504A>G c.(502-504)ttA>ttG p.L168L LDB2_ENST00000304523.5_Silent_p.L168L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Silent_p.L168L|LDB2_ENST00000503178.2_Silent_p.L44L|LDB2_ENST00000441778.2_Silent_p.L168L O43679 LDB2_HUMAN LIM domain binding 2 168 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TTCTCGGGACTAACTCTCGGT 0.393000 32 26 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107447670 107447670 + Missense_Mutation SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:107447670A>G ENST00000415149.2 + 6 791 c.464A>G c.(463-465)aAg>aGg p.K155R BBX_ENST00000416476.2_Missense_Mutation_p.K155R|BBX_ENST00000406780.1_Missense_Mutation_p.K155R|BBX_ENST00000402543.1_Missense_Mutation_p.K155R|BBX_ENST00000325805.8_Missense_Mutation_p.K155R NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) ACCACAAACAAGCCTGTGAAA 0.408000 110 172 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143603386 143603386 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr8:143603386G>A ENST00000517894.1 + 21 3979 c.3085G>A c.(3085-3087)Gtg>Atg p.V1029M BAI1_ENST00000323289.5_Missense_Mutation_p.V1029M O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1029 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTTCTGCTGGGTGCTCACCGA 0.692000 17 37 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325213 150325213 + Missense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:150325213G>T ENST00000328902.5 - 3 689 c.473C>A c.(472-474)aCc>aAc p.T158N GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 158 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCAGGATGGTGTGACCCAG 0.622000 49 42 1.38658e-30 1.58118e-30 1 1 0 BDP1 55814 broad.mit.edu 37 5 70786870 70786870 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr5:70786870C>G ENST00000358731.4 + 11 1815 c.1552C>G c.(1552-1554)Ctt>Gtt p.L518V BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 518 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GGAGCAGATGCTTTCCTGCAC 0.388000 31 50 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57946938 57946938 + Missense_Mutation SNP T T G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:57946938T>G ENST00000335397.3 + 3 338 c.22T>G c.(22-24)Ttg>Gtg p.L8V NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GAACCTCACCTTGGTGACCGA 0.438000 36 71 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734863 176734863 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:176734863G>A ENST00000367662.3 + 15 5377 c.4213G>A c.(4213-4215)Gat>Aat p.D1405N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1405 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGATCATGCTGATGTGGTGAA 0.507000 45 94 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67792498 67792498 + Nonsense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:67792498C>T ENST00000262345.1 + 4 1085 c.445C>T c.(445-447)Cga>Tga p.R149* IL12RB2_ENST00000541374.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000544434.1_Nonsense_Mutation_p.R149*|IL12RB2_ENST00000371000.1_Nonsense_Mutation_p.R149* NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 149 Fibronectin type-III 1. R -> Q (in dbSNP:rs17129792). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 GGAAAGAGGACGAGACACCCA 0.408000 15 50 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121679547 121679547 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:121679547G>C ENST00000393386.2 + 20 5953 c.5542G>C c.(5542-5544)Gag>Cag p.E1848Q PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E981Q NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1848 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGGGAGTGAGGAGTACGGGAA 0.393000 14 15 0 0 1 0 0 AZIN1 51582 broad.mit.edu 37 8 103842123 103842123 + Missense_Mutation SNP T T C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr8:103842123T>C ENST00000337198.5 - 10 2109 c.946A>G c.(946-948)Atg>Gtg p.M316V AZIN1_ENST00000347770.4_Missense_Mutation_p.M316V NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 316 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) CCATCATTCATATAATACATG 0.333000 34 94 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40734100 40734100 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:40734100C>G ENST00000298910.7 + 41 6011 c.5953C>G c.(5953-5955)Ctc>Gtc p.L1985V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1985 Protein kinase. 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 p.L1985F(1)|p.L1992F(1) 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) TGGCAGATACCTCCACTCAGC 0.368000 58 114 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79120767 79120767 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:79120767G>A ENST00000370747.4 + 4 648 c.563G>A c.(562-564)cGa>cAa p.R188Q IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 188 response to virus cytoplasm p.R188Q(1) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 CAACAAATACGAATTCTGCTG 0.463000 23 39 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142517313 142517313 + RNA SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr8:142517313G>A ENST00000430863.1 - 0 17 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCTGTGGGCCGGCCCTGTCTA 0.622000 9 31 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6520037 6520037 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:6520037G>A ENST00000254579.6 + 3 1156 c.592G>A c.(592-594)Ggc>Agc p.G198S DNHD1_ENST00000527990.2_Missense_Mutation_p.G198S|DNHD1_ENST00000354685.3_Missense_Mutation_p.G198S NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 198 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCGCTGCCTGGGCATTGTTGG 0.592000 61 102 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130285695 130285695 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:130285695G>A ENST00000358511.6 + 4 1463 c.1432G>A c.(1432-1434)Gtt>Att p.V478I COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 478 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGTTGGGGCCGTTCAGTATGC 0.498000 4 162 0 0 1 0 0 PAFAH1B2 5049 broad.mit.edu 37 11 117038340 117038340 + Silent SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:117038340C>T ENST00000527958.1 + 6 774 c.615C>T c.(613-615)atC>atT p.I205I PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron NM_002572.3 NP_002563.1 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 205 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) ATGCAAAGATCTGCAAACCCC 0.502000 T IGH@ MLCLS 5 23 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12821510 12821510 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:12821510G>A ENST00000425528.1 - 13 1552 c.1195C>T c.(1195-1197)Ctc>Ttc p.L399F TNPO2_ENST00000450764.2_Missense_Mutation_p.L399F|TNPO2_ENST00000441499.1_Missense_Mutation_p.L399F|TNPO2_ENST00000588216.1_Missense_Mutation_p.L399F|TNPO2_ENST00000592287.1_Missense_Mutation_p.L399F|TNPO2_ENST00000356861.5_Missense_Mutation_p.L399F O14787 TNPO2_HUMAN transportin 2 399 LLKG -> YQS (in Ref. 1; AAB83973). intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGCCTTTGAGTAGTGGGAGT 0.637000 11 18 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160826660 160826660 + Splice_Site SNP G G A rs113304621 byFrequency TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:160826660G>A ENST00000283243.7 - 18 2865 c.2660_splice c.e18+1 p.R887_splice PLA2R1_ENST00000392771.1_Splice_Site_p.R887_splice NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 887 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.R887C(1) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GGTTCATACCGAAATTCATCA 0.318000 10 31 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140535 3140535 + Silent SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr16:3140535C>T ENST00000252463.2 - 5 822 c.735G>A c.(733-735)ccG>ccA p.P245P ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 245 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 AAGGCTCTCCCGGCACCCCAG 0.602000 42 87 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933614 209933614 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:209933614G>A ENST00000367024.1 + 3 746 c.230G>A c.(229-231)gGc>gAc p.G77D TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.G77D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.G77D Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 77 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GAGGAGAAGGGCAAAGCGCAG 0.597000 3 38 0 0 1 0 0 SENP3-EIF4A1 100533955 broad.mit.edu 37 17 7476054 7476054 + RNA SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr17:7476054C>T ENST00000579777.1 + 0 1965 NR_037926.1 TTGCTGAGCGCCGGCAGGCGG 0.647000 10 21 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184166648 184166648 + Missense_Mutation SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:184166648A>G ENST00000403733.3 + 6 881 c.682A>G c.(682-684)Atc>Gtc p.I228V WWC2_ENST00000504005.1_Intron|WWC2_ENST00000513834.1_Missense_Mutation_p.I228V|WWC2_ENST00000448232.2_Missense_Mutation_p.I228V|WWC2_ENST00000378925.3_Missense_Mutation_p.I130V NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 228 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) ACTAAAATCTATCAGAAAGGC 0.373000 7 10 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926541 1926541 + Missense_Mutation SNP A A C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:1926541A>C ENST00000399161.2 - 10 1747 c.1000T>G c.(1000-1002)Tgc>Ggc p.C334G MYT1L_ENST00000428368.2_Missense_Mutation_p.C334G NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 334 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGGTCGAAGCACTGATTCCTC 0.547000 25 43 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666724 19666724 + Silent SNP T T C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr21:19666724T>C ENST00000284885.3 - 21 2382 c.2349A>G c.(2347-2349)ccA>ccG p.P783P NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 783 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CAACAATCTTTGGGGTGATGT 0.463000 67 132 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20693611 20693611 + Translation_Start_Site SNP C C T rs146861278 byFrequency TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr16:20693611C>T ENST00000219151.4 - 0 645 ACSM1_ENST00000520010.1_Missense_Mutation_p.R193H|ACSM1_ENST00000307493.4_Missense_Mutation_p.R193H Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CCACCCTTCACGGCTGTGATC 0.493000 16 47 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79392614 79392614 + Missense_Mutation SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:79392614A>G ENST00000370742.3 - 8 1103 c.1040T>C c.(1039-1041)tTa>tCa p.L347S NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 347 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGTTCATATAATGTGGGTGG 0.333000 18 38 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126180392 126180392 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:126180392C>T ENST00000389709.3 - 6 2166 c.2113G>A c.(2113-2115)Ggc>Agc p.G705S ZXDC_ENST00000336332.5_Missense_Mutation_p.G705S NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 705 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TAGAAGTTGCCAGTGCCTGCA 0.517000 15 30 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798044 55798044 + Missense_Mutation SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:55798044T>A ENST00000313555.1 + 1 150 c.150T>A c.(148-150)aaT>aaA p.N50K NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TTCTAGTTAATATTAATTCAA 0.333000 10 23 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47753078 47753078 + Nonsense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:47753078G>T ENST00000263773.5 - 12 1868 c.1856C>A c.(1855-1857)tCg>tAg p.S619* NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 619 WW 2. NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 AGACTCGCCCGACTGTTCGTT 0.408000 40 78 3.38236e-24 3.82353e-24 1 1 0 OR2H1 26716 broad.mit.edu 37 6 29429615 29429615 + Silent SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:29429615G>A ENST00000377136.1 + 4 534 c.69G>A c.(67-69)agG>agA p.R23R OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Silent_p.R23R|OR2H1_ENST00000377133.1_Silent_p.R23R|OR2H1_ENST00000377132.1_Silent_p.R23R|OR2H1_ENST00000396792.2_Silent_p.R23R Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CACTGGAAAGGACTCTCTTTG 0.532000 47 102 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11995582 11995582 + Missense_Mutation SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr8:11995582C>A ENST00000333796.3 - 1 1004 c.688G>T c.(688-690)Gct>Tct p.A230S FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 230 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 ACACTCTGAGCTGCCTGGATA 0.522000 17 51 2.35188e-11 2.59106e-11 1 1 0 RNF214 257160 broad.mit.edu 37 11 117117602 117117602 + Silent SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:117117602G>A ENST00000530849.1 + 5 442 c.432G>A c.(430-432)gaG>gaA p.E144E RNF214_ENST00000531452.1_Silent_p.E299E|RNF214_ENST00000300650.4_Silent_p.E299E|RNF214_ENST00000531287.1_Silent_p.E144E Q8ND24 RN214_HUMAN ring finger protein 214 299 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) AGAAGAAGGAGTTTTTGCAGA 0.388000 43 82 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114436283 114436283 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:114436283G>C ENST00000454265.2 - 10 1619 c.761C>G c.(760-762)aCt>aGt p.T254S CAMK2D_ENST00000429180.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000342666.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000394522.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000508738.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000505990.1_Missense_Mutation_p.T254S|CAMK2D_ENST00000379773.2_Missense_Mutation_p.T254S|CAMK2D_ENST00000296402.5_Missense_Mutation_p.T254S|CAMK2D_ENST00000394524.3_Missense_Mutation_p.T254S|CAMK2D_ENST00000514328.1_Missense_Mutation_p.T254S Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 254 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) AGGGTTGATAGTAAGCATTTT 0.368000 28 123 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152107874 152107874 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:152107874C>T ENST00000331426.5 - 4 771 c.620G>A c.(619-621)aGg>aAg p.R207K NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 207 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) TACTAAGGTCCTGACTGATGC 0.393000 23 40 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31454214 31454214 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:31454214C>G ENST00000373747.3 - 8 1296 c.1197G>C c.(1195-1197)ttG>ttC p.L399F PUM1_ENST00000440538.2_Missense_Mutation_p.L399F|PUM1_ENST00000426105.2_Missense_Mutation_p.L399F|PUM1_ENST00000423018.2_Missense_Mutation_p.L303F|PUM1_ENST00000257075.5_Missense_Mutation_p.L399F|PUM1_ENST00000424085.2_Missense_Mutation_p.L157F|PUM1_ENST00000373742.2_Missense_Mutation_p.L339F|PUM1_ENST00000373741.4_Missense_Mutation_p.L435F NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 399 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GAGCAGCTGTCAACTGCTGGA 0.498000 19 31 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55222088 55222088 + RNA SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:55222088T>A ENST00000413439.1 + 0 1615 CCATGAGTCCTGTGACCTCAG 0.602000 8 21 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047649 42047649 + Missense_Mutation SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:42047649C>A ENST00000372584.1 - 3 3834 c.2820G>T c.(2818-2820)ttG>ttT p.L940F HIVEP3_ENST00000429157.2_Missense_Mutation_p.L940F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L940F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L940F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 940 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGACCCACTCAAAGAGACAT 0.622000 13 198 3.27435e-08 3.4607e-08 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 124 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30881830 30881830 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:30881830G>A ENST00000251071.5 - 8 2284 c.1534C>T c.(1534-1536)Cca>Tca p.P512S CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P179S|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P512S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P512S|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P512S|CAPRIN2_ENST00000538387.1_5'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 512 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAAGACTTTGGAGTTTGCTTC 0.473000 39 56 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30744978 30744978 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr16:30744978C>T ENST00000262518.4 + 29 6738 c.6353C>T c.(6352-6354)aCt>aTt p.T2118I SRCAP_ENST00000395059.2_Missense_Mutation_p.T2056I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T1960I NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2118 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ATCCTTTCAACTCGGAGTGGG 0.507000 40 71 0 0 1 0 0 AIF1L 83543 broad.mit.edu 37 9 133987042 133987042 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr9:133987042C>G ENST00000372309.3 + 4 384 c.230C>G c.(229-231)gCc>gGc p.A77G AIF1L_ENST00000372300.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.A51G|AIF1L_ENST00000372302.1_Missense_Mutation_p.A51G|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372312.3_Missense_Mutation_p.A56G|AIF1L_ENST00000372298.1_Missense_Mutation_p.A51G NM_001185095.1 NP_001172024.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like 51 EF-hand 1. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding lung(2) 2 AAGCTCACAGCCTTCAAAGGT 0.567000 14 234 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119156860 119156860 + Silent SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:119156860C>T ENST00000319172.5 - 6 1086 c.666G>A c.(664-666)gaG>gaA p.E222E TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 222 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CCTCTACTGCCTCGTGCTGAA 0.433000 15 28 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116746969 116746969 + Splice_Site SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:116746969C>T ENST00000375300.1 - 8 1100 c.1095_splice c.e8+1 p.Q365_splice SIK3_ENST00000434315.2_Splice_Site_p.Q206_splice|SIK3_ENST00000446921.2_Splice_Site_p.Q365_splice|SIK3_ENST00000542607.1_Splice_Site_p.Q307_splice|SIK3_ENST00000292055.4_Splice_Site_p.Q307_splice|SIK3_ENST00000375288.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 307 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCGGAGATACCTGCAGTGTCT 0.483000 29 52 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133698375 133698375 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr3:133698375G>A ENST00000310926.4 - 2 457 c.184C>T c.(184-186)Cgc>Tgc p.R62C SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R62C|SLCO2A1_ENST00000478651.1_5'UTR NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 62 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGCCCAAAGCGCTTCTCAATG 0.557000 13 138 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95174149 95174149 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:95174149G>C ENST00000354268.4 + 9 1345 c.1272G>C c.(1270-1272)tgG>tgC p.W424C SMARCAD1_ENST00000457823.2_Missense_Mutation_p.W424C Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 424 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTAATAGTTGGGAGGCTCTGG 0.408000 112 33 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62334423 62334423 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:62334423G>A ENST00000378019.3 - 7 952 c.862C>T c.(862-864)Cgg>Tgg p.R288W MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R238W P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 238 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTCTCTTCCCGTGAACCCTTC 0.552000 4 187 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168099555 168099555 + Missense_Mutation SNP C C A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:168099555C>A ENST00000409195.1 + 9 1742 c.1653C>A c.(1651-1653)gaC>gaA p.D551E XIRP2_ENST00000295237.9_Missense_Mutation_p.D551E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D329E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 376 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACACAAATGACAGTTCTCAAA 0.398000 9 13 2.17888e-05 2.23035e-05 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117407215 117407215 + Silent SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:117407215A>G ENST00000160373.3 - 9 2885 c.2794T>C c.(2794-2796)Ttg>Ctg p.L932L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 932 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGCCTACACAAGATTTCTAGG 0.438000 27 15 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 4 85 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42510913 42510913 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:42510913C>T ENST00000262895.3 - 15 1920 c.1921G>A c.(1921-1923)Gcc>Acc p.A641T GRIK5_ENST00000301218.4_Missense_Mutation_p.A641T|GRIK5_ENST00000593562.1_Missense_Mutation_p.A641T NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 641 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GTGAGGAAGGCGGCCAGGTTG 0.632000 15 34 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515885 51515885 + Nonsense_Mutation SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:51515885G>T ENST00000328188.1 + 1 604 c.604G>T c.(604-606)Gga>Tga p.G202* NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGCCAACAGTGGATTCATCTG 0.483000 33 51 6.04164e-23 6.77081e-23 1 1 0 C1orf159 54991 broad.mit.edu 37 1 1019364 1019364 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:1019364G>A ENST00000448924.1 - 10 1410 c.979C>T c.(979-981)Ctc>Ttc p.L327F C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379320.1_Missense_Mutation_p.L291F|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.L327F|C1orf159_ENST00000294576.5_Missense_Mutation_p.L291F Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 327 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCCTGGCGGAGGCCGGCTGCG 0.647000 4 8 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133014187 133014187 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:133014187G>A ENST00000367928.4 - 4 815 c.802C>T c.(802-804)Cat>Tat p.H268Y NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 268 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GAGGGGTAATGTATGTTGGAT 0.388000 10 20 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160671714 160671714 + Missense_Mutation SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:160671714A>G ENST00000366952.1 - 5 1957 c.476T>C c.(475-477)cTc>cCc p.L159P SLC22A2_ENST00000366953.3_Missense_Mutation_p.L180P|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 180 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TGTAGTTAGGAGGCAGAGCTT 0.418000 31 74 0 0 1 0 0 ONECUT3 390874 broad.mit.edu 37 19 1775232 1775232 + Nonsense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:1775232C>T ENST00000382349.4 + 2 2563 c.1273C>T c.(1273-1275)Cag>Tag p.Q425* NM_001080488.1 NP_001073957.1 O60422 ONEC3_HUMAN one cut homeobox 3 425 endocrine pancreas development sequence-specific DNA binding Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07) 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) CACCGACCTGCAGCGACGCAC 0.652000 6 11 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64423032 64423032 + Missense_Mutation SNP A A T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:64423032A>T ENST00000262043.3 + 16 5888 c.5548A>T c.(5548-5550)Aat>Tat p.N1850Y PHF3_ENST00000393387.1_Missense_Mutation_p.N1850Y Q92576 PHF3_HUMAN PHD finger protein 3 1850 Pro-rich. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CTTTGCTCAAAATCCCATGGT 0.512000 66 107 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107234468 107234468 + Translation_Start_Site SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:107234468G>A ENST00000379121.2 + 0 2 BCAP29_ENST00000379117.2_Missense_Mutation_p.D88N|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.D88N|BCAP29_ENST00000465919.1_De_novo_Start_OutOfFrame|BCAP29_ENST00000005259.4_Missense_Mutation_p.D88N|BCAP29_ENST00000445771.2_Missense_Mutation_p.D88N Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 CAGCAGACCTGATGCCTATGA 0.343000 100 44 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046137 7046137 + Silent SNP T T A rs143934146 TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:7046137T>A ENST00000356654.4 + 5 1944 c.1707T>A c.(1705-1707)tcT>tcA p.S569S ATN1_ENST00000396684.2_Silent_p.S569S NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 569 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CTCCAGTCTCTTCCTCTTCCA 0.632000 40 111 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3845164 3845164 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr20:3845164C>T ENST00000428216.2 + 6 1015 c.887C>T c.(886-888)tCc>tTc p.S296F MAVS_ENST00000416600.2_Missense_Mutation_p.S155F|MAVS_ENST00000358134.6_3'UTR NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 296 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TCTCTGCCCTCCAAAGTGCCT 0.592000 30 50 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19330002 19330002 + Silent SNP C C A rs138463686 TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr19:19330002C>A ENST00000252575.5 + 3 395 c.352C>A c.(352-354)Cgg>Agg p.R118R NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 118 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TTCCTACCCCCGGCGCCGAGC 0.652000 13 20 2.27111e-07 2.381e-07 1 1 0 STAG2 10735 broad.mit.edu 37 X 123195628 123195628 + Silent SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chrX:123195628A>G ENST00000371160.1 + 17 1832 c.1542A>G c.(1540-1542)acA>acG p.T514T STAG2_ENST00000354548.5_Silent_p.T445T|STAG2_ENST00000371157.3_Silent_p.T514T|STAG2_ENST00000371144.3_Silent_p.T514T|STAG2_ENST00000371145.3_Silent_p.T514T|STAG2_ENST00000218089.9_Silent_p.T514T|STAG2_ENST00000469481.1_Intron Q8N3U4 STAG2_HUMAN stromal antigen 2 514 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 tAGCACTAACAGATAGGCAAG 0.353000 4 4 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38288848 38288848 + RNA SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:38288848C>G ENST00000436911.2 - 0 325 ACATACCTGTCTTTATTGGAG 0.338000 16 19 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30681696 30681696 + Missense_Mutation SNP T T A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr6:30681696T>A ENST00000376406.3 - 3 1048 c.401A>T c.(400-402)gAt>gTt p.D134V MDC1_ENST00000376405.2_Missense_Mutation_p.D134V NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 134 Interaction with CHEK2.|Interaction with the MRN complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CAGAGAGACATCCAGGCGATG 0.557000 Other conserved DNA damage response genes 21 66 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124624558 124624558 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:124624558C>T ENST00000278927.5 - 5 838 c.709G>A c.(709-711)Gtg>Atg p.V237M ESAM_ENST00000442070.2_Missense_Mutation_p.V58M NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 237 Ig-like C2-type. blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) TCCAGCGTCACATTACATTGG 0.552000 61 112 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222294710 222294710 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:222294710G>C ENST00000281821.2 - 15 2699 c.2658C>G c.(2656-2658)aaC>aaG p.N886K EPHA4_ENST00000392071.4_Missense_Mutation_p.N835K|EPHA4_ENST00000409938.1_Missense_Mutation_p.N886K|EPHA4_ENST00000409854.1_Missense_Mutation_p.N886K NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 886 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCTTCAAGCTGTTGGGGTTGC 0.507000 5 166 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52698894 52698894 + Missense_Mutation SNP C C G rs145555218 TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:52698894C>G ENST00000287727.3 + 3 188 c.16C>G c.(16-18)Caa>Gaa p.Q6E ZFYVE9_ENST00000361625.1_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q6E|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q6E NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 6 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity p.Q6*(1) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GAATTACTTCCAAGCAGAAGC 0.323000 30 45 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96091388 96091388 + Silent SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr4:96091388C>T ENST00000453304.1 - 15 2895 c.2547G>A c.(2545-2547)cgG>cgA p.R849R NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 849 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGAGCTTCTGCCGGATAGGGA 0.602000 5 434 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 105 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31849768 31849768 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr14:31849768G>C ENST00000543095.2 - 11 1797 c.1613C>G c.(1612-1614)gCa>gGa p.A538G HEATR5A_ENST00000404677.3_Missense_Mutation_p.A538G|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A532G|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A245G|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A532G NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 532 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAAATCCTCTGCTAATGTCAT 0.348000 6 8 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931804 46931804 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr22:46931804C>T ENST00000262738.3 - 1 1263 c.1264G>A c.(1264-1266)Gag>Aag p.E422K CELSR1_ENST00000395964.1_Missense_Mutation_p.E422K NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 422 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCTGGTACTCGGCCGCCTCC 0.682000 16 22 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652648 1652648 + Silent SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:1652648G>A ENST00000252804.4 - 17 2954 c.2904C>T c.(2902-2904)atC>atT p.I968I NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 968 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGAAGCAGGGGATGGGGCTCT 0.706000 4 16 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7894877 7894877 + Missense_Mutation SNP T T C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr20:7894877T>C ENST00000378789.3 - 3 530 c.479A>G c.(478-480)gAc>gGc p.D160G NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 160 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTAAGGTGTGTCCACTGTCAC 0.532000 22 68 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97279275 97279275 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:97279275G>C ENST00000599854.1 - 6 951 c.484C>G c.(484-486)Ctg>Gtg p.L162V KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.L162V|KANSL3_ENST00000440133.1_Missense_Mutation_p.L43V|KANSL3_ENST00000431828.1_Missense_Mutation_p.L249V NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 249 GGCCTCTTCAGTAGGAGAGAC 0.473000 54 106 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90113996 90113996 + Missense_Mutation SNP A A G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr9:90113996A>G ENST00000469640.2 + 2 379 c.4A>G c.(4-6)Acc>Gcc p.T2A DAPK1_ENST00000472284.1_Missense_Mutation_p.T2A|DAPK1_ENST00000408954.3_Missense_Mutation_p.T2A|DAPK1_ENST00000358077.5_Missense_Mutation_p.T2A|DAPK1_ENST00000491893.1_Missense_Mutation_p.T2A P53355 DAPK1_HUMAN death-associated protein kinase 1 2 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GTTTATCATGACCGTGTTCAG 0.572000 Chronic Lymphocytic Leukemia, Familial Clustering of 12 18 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6220873 6220873 + Silent SNP G G T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr11:6220873G>T ENST00000311352.2 + 1 498 c.420G>T c.(418-420)ctG>ctT p.L140L NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCTGTCCTGGTCACCAAAG 0.542000 17 22 6.94344e-10 7.4599e-10 1 1 0 REG3A 5068 broad.mit.edu 37 2 79384769 79384769 + Missense_Mutation SNP T T C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:79384769T>C ENST00000393878.1 - 4 643 c.389A>G c.(388-390)tAc>tGc p.Y130C REG3A_ENST00000409839.3_Missense_Mutation_p.Y130C|REG3A_ENST00000305165.2_Missense_Mutation_p.Y130C NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 130 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CCATGCAAAGTAATTCATCAC 0.547000 35 86 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345049 23345049 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr20:23345049C>T ENST00000338121.5 + 2 106 c.29C>T c.(28-30)tCc>tTc p.S10F GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S10F Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 10 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CTGCTGGAATCCAAATCCTCC 0.478000 30 55 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120784110 120784110 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:120784110G>A ENST00000257552.2 - 13 963 c.875C>T c.(874-876)aCg>aTg p.T292M NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 292 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGAGCCATCGTCCAGGGGTG 0.692000 4 7 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94989436 94989436 + Missense_Mutation SNP C C T TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:94989436C>T ENST00000265627.5 - 9 924 c.914G>A c.(913-915)cGc>cAc p.R305H PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.A235T NM_000940.2 NP_000931.1 paraoxonase 3 p.R305H(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) ATTCTGGATGCGAAGTACCTG 0.438000 26 119 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324890 150324890 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr7:150324890C>G ENST00000328902.5 - 3 1012 c.796G>C c.(796-798)Gag>Cag p.E266Q GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 266 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCCAAGACTCCTCACCAGGC 0.537000 30 27 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100523 93100523 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:93100523G>A ENST00000544406.2 + 2 382 c.116G>A c.(115-117)cGg>cAg p.R39Q C12orf74_ENST00000397833.3_Missense_Mutation_p.R39Q Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 39 p.R39L(1) kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 CAGTTTGACCGGCAAGCCCCA 0.627000 17 49 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32903678 32903678 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr12:32903678G>C ENST00000324868.8 - 3 1105 c.1078C>G c.(1078-1080)Cga>Gga p.R360G NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 360 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AATCCTTCTCGTCCATGAACA 0.408000 29 68 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55307479 55307479 + Missense_Mutation SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr1:55307479G>A ENST00000371273.3 + 10 1205 c.1190G>A c.(1189-1191)aGg>aAg p.R397K C1orf177_ENST00000358193.3_3'UTR NM_001110533.1 NP_001104003.1 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 397 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 taaagggaaaggatcacacca 0.463000 3 5 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85066403 85066403 + Silent SNP G G A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr2:85066403G>A ENST00000335459.5 - 3 919 c.714C>T c.(712-714)atC>atT p.I238I TRABD2A_ENST00000409133.1_Silent_p.I287I|TRABD2A_ENST00000409520.2_Silent_p.I287I NM_001080824.1 NP_001074293.1 TraB domain containing 2A CCTGAGCAGTGATGCGCTCCT 0.463000 14 25 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854448 40854448 + Missense_Mutation SNP C C G TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr5:40854448C>G ENST00000254691.5 + 3 3213 c.3014C>G c.(3013-3015)tCt>tGt p.S1005C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 1005 Pro-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TCTAAGCCTTCTCAGCCCAGA 0.527000 155 636 0 0 1 0 0 NRG2 9542 broad.mit.edu 37 5 139422532 139422534 + In_Frame_Del DEL GCT GCT - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr5:139422532_139422534delGCT ENST00000541337.1 - 1 350_352 c.121_123delAGC c.(121-123)del p.S41del NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 41 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity p.S41delS(2) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgccgctctcgctgctgctgctg 0.700 2 4 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176710861 176710861 + Frame_Shift_Del DEL A A - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr5:176710861delA ENST00000439151.2 + 20 6128 c.6083delA c.(6082-6084)gafs p.E2028fs NSD1_ENST00000361032.4_Frame_Shift_Del_p.E1925fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E1759fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E1759fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2028 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCCAACTGTGAAACACAGAAG 0.443 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 62 43 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98224262 98224263 + Frame_Shift_Ins INS - - A TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr9:98224262_98224263insA ENST00000430669.2 - 16 2965_2966 c.2380_2381insT c.(2380-2382)cagfs p.Q794fs PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.Q794fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.Q860fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.Q709fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.Q859fs Q13635 PTC1_HUMAN patched 1 860 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGTCACTGTCAAATGCATCC 0.500 81 40 --- --- --- --- DLG5 9231 broad.mit.edu 37 10 79613112 79613114 + Splice_Site DEL CTG CTG - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr10:79613112_79613114delCTG ENST00000372391.2 - 5 867_869 c.864_splice c.e5+1 p.Q288_splice DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 288 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ctgggCCTACCTGCTGCTGCTGG 0.576 2 4 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409532 22409540 + RNA DEL TCTCTCTCT TCTCTCTCT - rs57759840 TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr14:22409532_22409540delTCTCTCTCT ENST00000390441.2 + 0 102 tctctctctctctctctctTTTTTTTTTT 0.411 4 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578262 7578277 + Frame_Shift_Del DEL CGGATAAGATGCTGAG CGGATAAGATGCTGAG - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr17:7578262_7578277delCGGATAAGATGCTGAG ENST00000420246.2 - 6 704_719 c.572_587delCTCAGCATCTTATCCG c.(571-588)cafs p.PQHLIR191fs TP53_ENST00000455263.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.PQHLIR191fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PQHLIR191fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 191 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.Q192*(83)|p.H193R(80)|p.I195T(69)|p.L194R(47)|p.H193L(42)|p.H193Y(29)|p.I195F(20)|p.R196P(18)|p.H193P(18)|p.L194F(17)|p.R64*(14)|p.R103*(14)|p.H193D(13)|p.I195N(12)|p.I195S(10)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.P191del(7)|p.R196fs*51(7)|p.?(6)|p.I195fs*52(6)|p.Q99*(6)|p.I195fs*14(6)|p.Q60*(6)|p.L62R(5)|p.L101R(5)|p.Q192R(5)|p.P191delP(4)|p.H61R(4)|p.H100L(4)|p.H61L(4)|p.H100R(4)|p.L194L(4)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.I195M(3)|p.R196Q(3)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.Q192H(3)|p.P191L(2)|p.P191fs*53(2)|p.I102S(2)|p.I102T(2)|p.P59delP(2)|p.H61P(2)|p.I63T(2)|p.H100P(2)|p.I63S(2)|p.H61D(2)|p.H100D(2)|p.R103P(2)|p.G187fs*16(2)|p.R64P(2)|p.L194fs*15(2)|p.P191R(2)|p.P98delP(2)|p.H193H(2)|p.Q192Q(2)|p.R196R(2)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P59_E66>Q(1)|p.P191fs*56(1)|p.I102M(1)|p.I102F(1)|p.L188_P191del(1)|p.Q192fs*30(1)|p.I102fs*14(1)|p.I195fs*50(1)|p.R196L(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.H100Y(1)|p.H61Y(1)|p.Q192fs*16(1)|p.I195L(1)|p.I63fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P191fs*15(1)|p.I195_G199delIRVEG(1)|p.L62H(1)|p.A189fs*53(1)|p.A189_Q192>E(1)|p.L194V(1)|p.L194I(1)|p.I102fs*52(1)|p.I195fs*12(1)|p.I63M(1)|p.P191H(1)|p.L194fs*14(1)|p.P191P(1)|p.L101H(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.I63F(1)|p.I63fs*>28(1)|p.Q192fs*56(1)|p.Q192del(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAG 0.551 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 16 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142442 21142442 + RNA DEL A A - rs113752643 TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr20:21142442delA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TCATTTCTGGAAAAAAAAAAA 0.363 3 6 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46761484 46761484 + Splice_Site DEL A A - TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 710de6ca-2401-4b9c-b803-1086cc6b775d 88414f62-bce3-45d4-8925-a108cc4b2501 g.chr22:46761484delA ENST00000262738.3 - 31 8402 c.8404_splice c.e31+1 p.P2801_splice NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2801 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AAGCCATACCAGGGGGATCCT 0.637 2 4 --- --- --- ---