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 STK33 65975 broad.mit.edu 37 11 8474411 8474411 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:8474411C>T ENST00000447869.1 - 7 1747 c.829G>A c.(829-831)Gaa>Aaa p.E277K STK33_ENST00000396672.1_Missense_Mutation_p.E277K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.E90K|STK33_ENST00000315204.1_Missense_Mutation_p.E277K|STK33_ENST00000396673.1_Missense_Mutation_p.E277K|STK33_ENST00000534493.1_Missense_Mutation_p.E236K Q9BYT3 STK33_HUMAN serine/threonine kinase 33 277 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AGCATGGCTTCACTCCTACTT 0.438000 98 8 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307882 54307882 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:54307882G>A ENST00000545554.1 + 1 2782 c.2782G>A c.(2782-2784)Gat>Aat p.D928N UNC13C_ENST00000537900.1_Missense_Mutation_p.D928N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D928N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 928 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCCAGCAGATGATATGGTTAG 0.388000 24 30 0 0 1 0 0 HADHB 3032 broad.mit.edu 37 2 26502047 26502047 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:26502047C>T ENST00000317799.5 + 9 779 c.675C>T c.(673-675)caC>caT p.H225H HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Silent_p.H210H|HADHB_ENST00000545822.1_Silent_p.H203H|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 225 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATGGGCCACTCTGCAGACC 0.537000 40 93 0 0 1 0 0 SLC10A6 345274 broad.mit.edu 37 4 87744896 87744896 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:87744896G>A ENST00000273905.6 - 6 1226 c.1079C>T c.(1078-1080)cCa>cTa p.P360L NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 360 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GCAATCCATTGGCCCTGGTGG 0.542000 12 32 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680742 81680742 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:81680742G>A ENST00000480805.1 + 0 809 NR_002724.2 GCCCTCCTGGGAAGATGGGGC 0.537000 8 5 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145618702 145618702 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:145618702C>T ENST00000349769.3 - 37 4343 c.4249G>A c.(4249-4251)Gag>Aag p.E1417K CPSF1_ENST00000531727.1_5'UTR NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1417 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TTGGCTAGCTCGCTGCGCTCC 0.687000 3 13 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210471 100210471 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:100210471G>A ENST00000317233.4 - 14 1887 c.1652C>T c.(1651-1653)cCc>cTc p.P551L AFF3_ENST00000409579.1_Missense_Mutation_p.P576L|AFF3_ENST00000356421.2_Missense_Mutation_p.P576L|AFF3_ENST00000409236.1_Missense_Mutation_p.P551L NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 551 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CACGGCCGCGGGCGGGGACTT 0.706000 32 90 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297363 28297363 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:28297363G>A ENST00000414429.1 - 6 1001 c.98C>T c.(97-99)tCt>tTt p.S33F ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S33F|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S33F|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S33F zinc finger and SCAN domain containing 31 TTCTTGGCCAGAAAAGTTGTT 0.502000 46 206 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197021831 197021831 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:197021831G>A ENST00000367412.1 - 9 1531 c.1488C>T c.(1486-1488)acC>acT p.T496T NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 496 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CAGACAATGGGGTTAATGGAG 0.318000 40 52 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168108064 168108064 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:168108064G>A ENST00000409195.1 + 9 10251 c.10162G>A c.(10162-10164)Gac>Aac p.D3388N XIRP2_ENST00000409273.1_Missense_Mutation_p.D3166N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D3388N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3213 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 GAGTTTTACAGACTTTTCTTG 0.388000 67 63 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123888 151123888 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:151123888G>A ENST00000370325.1 - 8 1142 c.1089C>T c.(1087-1089)ttC>ttT p.F363F GABRE_ENST00000370328.3_Silent_p.F363F|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 363 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGTAGATCAGGAAGTTGAGCA 0.498000 26 4 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91779982 91779982 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:91779982C>T ENST00000389857.6 - 15 2264 c.2178G>A c.(2176-2178)atG>atA p.M726I NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 726 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCTCCCTCTCCATCTGTGCCA 0.612000 24 43 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10875115 10875115 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:10875115C>T ENST00000379491.4 - 5 781 c.634G>A c.(634-636)Gaa>Aaa p.E212K SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 212 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TCTGGATTTTCCAAGGGAGGT 0.428000 39 66 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169390657 169390657 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:169390657G>A ENST00000545005.1 - 4 1519 c.1012C>T c.(1012-1014)Cga>Tga p.R338* CCDC181_ENST00000367805.3_Nonsense_Mutation_p.R338*|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Nonsense_Mutation_p.R338* coiled-coil domain containing 181 TCTTTCTGTCGAGGGGAAAGA 0.383000 40 69 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57294155 57294155 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:57294155C>T ENST00000288266.3 + 18 1816 c.1669C>T c.(1669-1671)Cca>Tca p.P557S NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 557 PID. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GTTAATTGATCCACAGACACA 0.294000 7 13 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52603381 52603381 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:52603381C>T ENST00000521776.2 + 2 1174 c.441C>T c.(439-441)atC>atT p.I147I ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 147 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) ACCCTATCATCCTGAAGAACC 0.493000 31 78 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125716406 125716406 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:125716406G>A ENST00000518547.1 - 2 572 c.99C>T c.(97-99)ttC>ttT p.F33F MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.F33F|MTSS1_ENST00000378017.3_Silent_p.F33F NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 33 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTTGTTTATGAAATCTTCCC 0.448000 31 68 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8504401 8504401 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:8504401C>T ENST00000381196.4 - 20 2225 c.1682G>A c.(1681-1683)cGa>cAa p.R561Q PTPRD_ENST00000397617.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R548Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R558Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R548Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R558Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 561 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATGGTAATTCGTTGCTGGAA 0.433000 TSP Lung(15;0.13) 76 9 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31317956 31317956 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:31317956G>A ENST00000265071.2 + 11 2072 c.1807G>A c.(1807-1809)Gag>Aag p.E603K CDH6_ENST00000514738.1_Missense_Mutation_p.E548K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 603 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTGCCATGCGGAGGCGCTCAT 0.572000 30 24 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191500 152191500 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:152191500G>A ENST00000368801.2 - 3 2680 c.2605C>T c.(2605-2607)Cag>Tag p.Q869* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 869 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTCATGCTGACCATAGCTG 0.607000 69 59 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99291553 99291553 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:99291553C>T ENST00000393487.1 - 4 661 c.348G>A c.(346-348)ttG>ttA p.L116L MGAT4A_ENST00000409391.1_Silent_p.L116L|MGAT4A_ENST00000264968.2_Silent_p.L116L NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 116 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 CTTCATTTTTCAATAAATGAG 0.348000 39 40 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144135968 144135968 + Nonsense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:144135968A>T ENST00000307017.4 + 9 3345 c.2839A>T c.(2839-2841)Aaa>Taa p.K947* USP38_ENST00000510377.1_Nonsense_Mutation_p.K947* NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 947 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GCTTTTGTATAAAAAACAGCA 0.368000 18 18 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19379467 19379467 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:19379467G>A ENST00000338883.4 - 28 3846 c.3847C>T c.(3847-3849)Ctt>Ttt p.L1283F PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.L1115F|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.L718F|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1283 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CGTAGTCGAAGGTATCTTAGA 0.388000 13 3 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15769734 15769734 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:15769734C>T ENST00000381341.2 + 25 2273 c.1884C>T c.(1882-1884)taC>taT p.Y628Y DDX1_ENST00000233084.3_Silent_p.Y628Y Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 628 Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGGTTTGGTACCATGTATGTA 0.358000 13 20 0 0 1 0 0 HN1 51155 broad.mit.edu 37 17 73144668 73144668 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:73144668A>G ENST00000476258.1 - 2 1124 c.17T>C c.(16-18)tTt>tCt p.F6S HN1_ENST00000482348.1_Missense_Mutation_p.F6S|HN1_ENST00000470924.1_Missense_Mutation_p.F6S|HN1_ENST00000481647.1_Missense_Mutation_p.F6S|HN1_ENST00000392566.2_Missense_Mutation_p.F6S|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000405458.3_Missense_Mutation_p.F6S|HN1_ENST00000409753.3_Missense_Mutation_p.F52S|HN1_ENST00000356033.4_Missense_Mutation_p.F52S|HN1_ENST00000581874.1_Missense_Mutation_p.F52S Q9UK76 HN1_HUMAN hematological and neurological expressed 1 52 nucleus HN1/USH1G(2) breast(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) AGGTGTCCCAAAGATATTAGA 0.458000 11 26 0 0 1 0 0 DOK7 285489 broad.mit.edu 37 4 3475241 3475241 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:3475241C>T ENST00000340083.5 + 3 274 c.209C>T c.(208-210)cCc>cTc p.P70L DOK7_ENST00000507039.1_Missense_Mutation_p.P70L|DOK7_ENST00000389653.2_Missense_Mutation_p.P70L NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 70 PH. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCGGCCTGCCCTACGAGGGC 0.647000 11 19 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109861769 109861769 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:109861769G>A ENST00000399132.1 - 10 1128 c.598C>T c.(598-600)Cct>Tct p.P200S COL25A1_ENST00000399126.1_Missense_Mutation_p.P200S|COL25A1_ENST00000399127.1_Missense_Mutation_p.P196S NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 200 Collagen-like 2. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGAGGGCCAGGGGGTCCTGGA 0.567000 28 54 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46991809 46991809 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:46991809C>T ENST00000371253.2 - 5 637 c.422G>A c.(421-423)aGc>aAc p.S141N GPR110_ENST00000371243.2_Missense_Mutation_p.S141N|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 141 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GACACTCTGGCTGAGGTTGTT 0.527000 51 43 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100348402 100348402 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:100348402C>T ENST00000542585.1 + 0 1552 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCGAACTCCTCCTGGGAAGTC 0.622000 16 5 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3100899 3100899 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:3100899G>A ENST00000381951.1 + 1 87 c.87G>A c.(85-87)gtG>gtA p.V29V NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TCTTCTTTGTGATTTTTTTGT 0.403000 51 88 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047238 9047238 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:9047238T>C ENST00000397910.4 - 5 34596 c.34393A>G c.(34393-34395)Atc>Gtc p.I11465V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11467 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGAACTGATGACCAGTGAG 0.493000 90 59 0 0 1 0 0 MAF 4094 broad.mit.edu 37 16 79632785 79632785 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:79632785G>A ENST00000393350.1 - 1 1826 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C MAF_ENST00000569649.1_Missense_Mutation_p.R339C|MAF_ENST00000326043.4_Missense_Mutation_p.R339C NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 339 Represses ARE-mediated transcription. transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) TCCCTCTCGCGCACCAGCCTG 0.587000 T IGH@ MM 25 12 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754586 76754586 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:76754586G>A ENST00000536229.3 + 1 2905 c.2196G>A c.(2194-2196)gtG>gtA p.V732V SALL3_ENST00000575389.2_Silent_p.V865V|SALL3_ENST00000537592.2_Silent_p.V865V Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 865 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCAAGTCCGTGGAGAACGGGT 0.677000 28 28 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045715 116045715 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:116045715G>A ENST00000603594.1 + 11 1336 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K VWA2_ENST00000392982.3_Missense_Mutation_p.E339K NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 339 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GCTGAGCCTGGAATGCAGGGT 0.627000 28 33 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186692894 186692894 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:186692894G>A ENST00000343098.5 + 21 20752 c.20752G>A c.(20752-20754)Gaa>Aaa p.E6918K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6829K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAGTTCTCAGGAACAAAAGCC 0.294000 26 30 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207516587 207516587 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:207516587G>A ENST00000452335.2 - 12 1808 c.1692C>T c.(1690-1692)gcC>gcT p.A564A NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 564 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGGCAGAGAAGGCCCTGCACA 0.473000 25 44 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407127 55407127 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:55407127C>T ENST00000341048.4 - 10 1599 c.1448G>A c.(1447-1449)aGa>aAa p.R483K ANKRD55_ENST00000434982.2_Missense_Mutation_p.R195K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R440K NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 482 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GCAGCCAGTTCTGTTATTTAA 0.458000 42 56 0 0 1 0 0 HOXD4 3233 broad.mit.edu 37 2 177017588 177017588 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:177017588C>T ENST00000306324.3 + 2 1098 c.686C>T c.(685-687)tCa>tTa p.S229L HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 229 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TCTTCCTCCTCATCTTGCTCC 0.547000 76 71 0 0 1 0 0 ASAH2 56624 broad.mit.edu 37 10 52005181 52005181 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:52005181C>T ENST00000395526.3 - 2 160 c.161G>A c.(160-162)aGc>aAc p.S54N ASAH2_ENST00000329428.6_Missense_Mutation_p.S35N|ASAH2_ENST00000447815.1_Missense_Mutation_p.S54N NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 54 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGCTGGAGGGCTTTGGGTGGT 0.488000 17 19 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40270412 40270412 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:40270412G>A ENST00000225916.5 - 7 1136 c.1083C>T c.(1081-1083)tcC>tcT p.S361S NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 361 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CCTCCAGCATGGACAGGAATC 0.597000 39 43 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56077640 56077640 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:56077640G>A ENST00000394252.3 + 2 751 c.542G>A c.(541-543)gGa>gAa p.G181E NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 181 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 GAACCATATGGAAGCTGGGCC 0.542000 32 50 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164333 15164333 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:15164333T>G ENST00000427043.3 + 3 376 c.68T>G c.(67-69)cTg>cGg p.L23R CASP14_ENST00000221740.1_Missense_Mutation_p.L23R NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 23 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GCCCTAATACTGTGTGTCACC 0.512000 43 69 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336985 151336985 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:151336985G>A ENST00000370314.4 - 10 1432 c.1194C>T c.(1192-1194)atC>atT p.I398I GABRA3_ENST00000370311.1_Silent_p.I398I|GABRA3_ENST00000535043.1_Silent_p.I398I|RP11-329E24.6_ENST00000453915.1_RNA NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 398 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGTCCCCACGATGTTGAAGG 0.517000 78 16 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80639989 80639989 + Missense_Mutation SNP G G A rs113234186 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:80639989G>A ENST00000307624.3 - 9 998 c.970C>T c.(970-972)Cgc>Tgc p.R324C ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 324 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CTGCCTAGGCGAATTCGCTTG 0.368000 16 18 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12001227 12001227 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:12001227G>A ENST00000356352.2 - 11 2786 c.2313C>T c.(2311-2313)ctC>ctT p.L771L UPF2_ENST00000397053.2_Silent_p.L771L|UPF2_ENST00000357604.5_Silent_p.L771L Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 771 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CATATTCCTGGAGAGGAGGAC 0.408000 251 342 0 0 1 0 0 SCARF2 91179 broad.mit.edu 37 22 20781786 20781786 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:20781786G>A ENST00000405555.3 - 10 1662 c.1592C>T c.(1591-1593)cCc>cTc p.P531L SCARF2_ENST00000266214.5_Missense_Mutation_p.P536L NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 531 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CAGCCCTGAGGGTGGCTCCAG 0.622000 71 3 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55591182 55591182 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:55591182C>T ENST00000373965.2 - 31 4510 c.4116G>A c.(4114-4116)aaG>aaA p.K1372K PCDH15_ENST00000409834.1_Silent_p.K976K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.K1343K|PCDH15_ENST00000395430.1_Silent_p.K1365K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.K1328K|PCDH15_ENST00000395445.1_Silent_p.K1372K|PCDH15_ENST00000320301.6_Silent_p.K1365K|PCDH15_ENST00000437009.1_Silent_p.K1294K|PCDH15_ENST00000361849.3_Silent_p.K1365K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.K1365K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.K1370K|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1365 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) TTTCTCCTCTCTTTTTAATGC 0.483000 HNSCC(58;0.16) 29 20 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71690521 71690521 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:71690521T>C ENST00000393524.2 - 14 2875 c.2142A>G c.(2140-2142)tcA>tcG p.S714S PHLPP2_ENST00000360429.3_Silent_p.S781S|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000567016.1_Silent_p.S816S|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Silent_p.S781S|PHLPP2_ENST00000356272.3_Silent_p.S781S Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 781 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TCCAGAAGGTTGACGTAACTG 0.453000 79 49 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79382679 79382679 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:79382679G>A ENST00000419573.3 - 1 436 c.162C>T c.(160-162)ttC>ttT p.F54F RASGRF1_ENST00000558480.2_Silent_p.F54F NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 54 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGTCGCTCTCGAAGTAGAAGA 0.647000 30 43 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100135229 100135229 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:100135229G>A ENST00000357223.2 + 8 1856 c.1791G>A c.(1789-1791)ttG>ttA p.L597L HHIPL1_ENST00000330710.5_Intron NM_032425.4 NP_115801.3 Q96JK4 HIPL1_HUMAN HHIP-like 1 0 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GCagctcattgacgtctcagc 0.622000 22 29 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169566244 169566244 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:169566244G>A ENST00000263686.6 - 11 1913 c.1876C>T c.(1876-1878)Cca>Tca p.P626S SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P564S|SELP_ENST00000367786.2_Missense_Mutation_p.P564S|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.P564S|SELP_ENST00000367793.2_Missense_Mutation_p.P564S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 626 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.P626T(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTTGGTGGAGTAGCTGAC 0.398000 26 70 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30601740 30601740 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:30601740C>T ENST00000519246.1 + 0 50 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 CATTTTCTTCCTCTCTGCTGT 0.582000 7 19 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40184975 40184975 + Missense_Mutation SNP C C T rs66473060 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:40184975C>T ENST00000360214.3 + 4 581 c.121C>T c.(121-123)Cct>Tct p.P41S ETS2_ENST00000360938.3_Missense_Mutation_p.P41S NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 41 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TGCTGTTTTTCCTTCTCTAAA 0.398000 38 86 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919278 51919278 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:51919278G>A ENST00000353836.5 - 5 1119 c.898C>T c.(898-900)Ccc>Tcc p.P300S CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P300S|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P217S|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P242S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P252S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P242S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.P300S NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 300 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGCCCCAGGGATGGGACGAG 0.662000 11 29 0 0 1 0 0 RP11-464F9.1 0 broad.mit.edu 37 10 75481240 75481240 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:75481240G>A ENST00000399449.3 - 0 718 RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA CACCATTCCAGAAAGGCAGAA 0.343000 15 22 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22609910 22609910 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:22609910G>A ENST00000333957.4 - 23 2974 c.2719C>T c.(2719-2721)Cgg>Tgg p.R907W C2CD5_ENST00000542676.1_Missense_Mutation_p.R958W|C2CD5_ENST00000396028.2_Missense_Mutation_p.R949W|C2CD5_ENST00000544930.1_Missense_Mutation_p.R763W|C2CD5_ENST00000446597.1_Missense_Mutation_p.R958W|C2CD5_ENST00000545552.1_Missense_Mutation_p.R961W|C2CD5_ENST00000536386.1_Missense_Mutation_p.R960W NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ATTACCTCCCGAAGAGAAGTA 0.274000 13 11 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43244488 43244488 + Missense_Mutation SNP C C T rs144627053 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:43244488C>T ENST00000327495.5 - 1 233 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG3_ENST00000595140.1_Missense_Mutation_p.G17R NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 17 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AGCAGGAGCCCCTTCCAGGTG 0.612000 57 126 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17953950 17953950 + Missense_Mutation SNP G G A rs55778349 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:17953950G>A ENST00000458235.1 - 5 551 c.452C>T c.(451-453)cCc>cTc p.P151L JAK3_ENST00000534444.1_Missense_Mutation_p.P151L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.P151L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 151 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). P -> R (in T(-)B(+)NK(-) SCID; dbSNP:rs55778349). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P151R(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GAGGCCCACGGGGAGGCGCCC 0.677000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 10 13 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122620069 122620069 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:122620069C>T ENST00000319080.6 + 11 2020 c.1888C>T c.(1888-1890)Ctg>Ttg p.L630L MLXIP_ENST00000538698.1_Silent_p.L237L|MLXIP_ENST00000535996.1_3'UTR Q9HAP2 MLXIP_HUMAN MLX interacting protein 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CAGCAGCATCCTGGTGACAGA 0.657000 6 5 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835995 12835995 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:12835995G>A ENST00000357726.4 + 2 624 c.597G>A c.(595-597)acG>acA p.T199T NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 199 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAACACGGTGGAGCTAG 0.527000 72 17 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22056862 22056862 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:22056862C>T ENST00000256906.4 + 3 609 c.509C>T c.(508-510)tCg>tTg p.S170L HRH4_ENST00000426880.2_Missense_Mutation_p.S82L NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 170 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) GGATTTTTTTCGGAATGGTAC 0.433000 39 60 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81736965 81736965 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:81736965G>A ENST00000267540.2 - 5 2862 c.2662C>T c.(2662-2664)Ccc>Tcc p.P888S STON2_ENST00000555447.1_Intron NM_033104.3 NP_149095.2 Q8WXE9 STON2_HUMAN stonin 2 888 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGGGTAGTGGGGTGAACAAAT 0.483000 47 64 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 99039905 99039905 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:99039905G>A ENST00000254898.5 + 14 2435 c.2204G>A c.(2203-2205)gGg>gAg p.G735E MATN2_ENST00000521689.1_Missense_Mutation_p.G735E|MATN2_ENST00000520016.1_Missense_Mutation_p.G735E|MATN2_ENST00000524308.1_Missense_Mutation_p.G694E|MATN2_ENST00000522025.2_Missense_Mutation_p.G451E|RPL30_ENST00000518164.1_Intron NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 735 VWFA 2. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCTATGACTGGGCTGGCCCTG 0.517000 13 28 0 0 1 0 0 LRRC25 126364 broad.mit.edu 37 19 18507726 18507726 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:18507726C>T ENST00000339007.3 - 1 701 c.48G>A c.(46-48)cgG>cgA p.R16R LRRC25_ENST00000595840.1_Silent_p.R16R NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 16 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 TGTCTGACTCCCGCAGCAGCA 0.622000 25 24 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40126847 40126847 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:40126847G>A ENST00000373233.3 - 7 1112 c.935C>T c.(934-936)cCg>cTg p.P312L CHD6_ENST00000373222.3_Missense_Mutation_p.P347L|CHD6_ENST00000309279.7_Missense_Mutation_p.P312L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 312 Chromo 1. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CAAGTCGAACGGAGGTTCTCC 0.383000 10 29 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024554 16024554 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:16024554C>T ENST00000402119.3 - 12 1989 c.1563G>A c.(1561-1563)gcG>gcA p.A521A CYP4F11_ENST00000248041.7_Silent_p.A521A|CYP4F11_ENST00000326742.7_3'UTR NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 521 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 ACTGTGAGTTCGCACCCAGGG 0.592000 12 6 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63257242 63257242 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:63257242C>T ENST00000323865.3 - 1 538 c.305G>A c.(304-306)tGg>tAg p.W102* RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 102 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCCCAGTGTCCACTTGTTGAG 0.587000 8 11 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38151308 38151308 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:38151308C>T ENST00000264639.4 + 7 1257 c.1083C>T c.(1081-1083)ttC>ttT p.F361F PSMD3_ENST00000541736.1_Silent_p.F223F NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 361 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TGCCCTATTTCCTTCTGACTC 0.587000 62 79 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 100 13 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040668 88040668 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:88040668G>A ENST00000319595.4 + 1 823 c.769G>A c.(769-771)Gac>Aac p.D257N NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 257 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CCCATCAACAGACTTTGATAA 0.408000 27 20 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026812 182026812 + Missense_Mutation SNP C C T rs141227760 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:182026812C>T ENST00000339948.3 - 2 541 c.334G>A c.(334-336)Gag>Aag p.E112K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CCCTGGGTCTCGTTGATCTTT 0.547000 28 100 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21959320 21959320 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:21959320C>T ENST00000289921.7 + 14 1855 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 603 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 AGGGCCACTTCCTCCGAGTGC 0.642000 23 9 0 0 1 0 0 SNORD114-28 767609 broad.mit.edu 37 14 101455479 101455479 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:101455479G>A ENST00000363610.1 + 0 13 NR_003221.1 GATCGATGATGACTGCTGGTG 0.363000 32 50 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986667 44986667 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:44986667G>A ENST00000296127.3 - 3 697 c.424C>T c.(424-426)Cac>Tac p.H142Y ZDHHC3_ENST00000342790.4_Missense_Mutation_p.H176Y|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.H142Y NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 142 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TACCTGCAGTGGTGGGCTCGG 0.572000 70 51 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10721443 10721443 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:10721443G>A ENST00000283025.2 - 7 1526 c.1455C>T c.(1453-1455)acC>acT p.T485T TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 485 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GCGGTGCTCAGGTGTGGCCCA 0.552000 57 45 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46747431 46747431 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:46747431G>A ENST00000311907.5 + 7 638 c.582G>A c.(580-582)gcG>gcA p.A194A F2_ENST00000530231.1_Silent_p.A194A NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 194 AM -> MV (in Ref. 9; AA sequence). activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TCACTGTAGCGATGACTCCAC 0.617000 63 8 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236212240 236212240 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:236212240G>A ENST00000264187.6 - 2 357 c.275C>T c.(274-276)tCc>tTc p.S92F NID1_ENST00000366595.3_Missense_Mutation_p.S92F NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 92 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCCGGGATGGGATTCTTTGGC 0.532000 38 125 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175072 207175072 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:207175072G>A ENST00000374423.3 + 5 6206 c.5820G>A c.(5818-5820)gcG>gcA p.A1940A NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1940 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GCCAGACAGCGAAAATCAGCC 0.448000 53 47 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210857019 210857019 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:210857019C>T ENST00000367007.4 - 11 2662 c.2493G>A c.(2491-2493)tcG>tcA p.S831S KCNH1_ENST00000271751.4_Silent_p.S858S NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 858 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTGTCTCCATCGACTCAGCCT 0.592000 84 84 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 12934076 12934076 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:12934076G>A ENST00000379348.2 + 4 639 c.462G>A c.(460-462)aaG>aaA p.K154K PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 0 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AAGGAGCTAAGAGAAGGAGGG 0.522000 20 65 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32776606 32776606 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:32776606C>T ENST00000380250.3 + 31 4456 c.3960C>T c.(3958-3960)gcC>gcT p.A1320A NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1320 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGTCACTTGCCCTCTTGTCAT 0.493000 22 126 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91643619 91643619 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:91643619G>A ENST00000359028.2 + 11 3850 c.3625G>A c.(3625-3627)Gaa>Aaa p.E1209K AKAP9_ENST00000356239.3_Missense_Mutation_p.E1197K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1209K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1209 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGCAGTGTCTGAAGAATGTTC 0.358000 T BRAF papillary thyroid 11 7 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94928743 94928743 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:94928743C>T ENST00000357742.4 + 13 1777 c.1777C>T c.(1777-1779)Ccc>Tcc p.P593S MCTP2_ENST00000451018.3_Missense_Mutation_p.P593S|MCTP2_ENST00000557742.1_Missense_Mutation_p.P181S|MCTP2_ENST00000331706.4_Missense_Mutation_p.P181S NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 593 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGTTGCCATTCCCTTGCTGTC 0.353000 35 42 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164767590 164767590 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:164767590G>A ENST00000264382.3 - 14 1648 c.1586C>T c.(1585-1587)cCg>cTg p.P529L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 529 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGGAGTAAACGGTGGATAATT 0.279000 HNSCC(35;0.089) 26 25 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44329570 44329570 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:44329570G>A ENST00000288390.2 + 4 762 c.415G>A c.(415-417)Gat>Aat p.D139N SPATS1_ENST00000323108.8_Missense_Mutation_p.D139N Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 139 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TATTGCAGAAGATGGGCATCG 0.483000 87 211 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84347203 84347203 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:84347203G>A ENST00000295488.3 - 14 2881 c.2719C>T c.(2719-2721)Ctt>Ttt p.L907F HELQ_ENST00000510985.1_Missense_Mutation_p.L840F NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 907 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 GAGACTCCAAGAATGGCAGCT 0.383000 Other identified genes with known or suspected DNA repair function 39 55 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327355 57327355 + Missense_Mutation SNP G G A rs143073381 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:57327355G>A ENST00000326441.9 - 10 2818 c.2455C>T c.(2455-2457)Cgt>Tgt p.R819C ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R695C|PEG3_ENST00000593695.1_Missense_Mutation_p.R693C|PEG3_ENST00000423103.2_Missense_Mutation_p.R819C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 819 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R819C(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCCAGCACGAACTCTCTGA 0.458000 44 81 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24007015 24007015 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:24007015G>A ENST00000328046.8 - 4 1093 c.838C>T c.(838-840)Ccg>Tcg p.P280S NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 280 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 GTAGTTTGCGGTTTTGCAGAA 0.433000 54 12 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25718853 25718853 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:25718853G>A ENST00000520164.1 - 12 1673 c.1136C>T c.(1135-1137)gCt>gTt p.A379V EBF2_ENST00000535548.1_Missense_Mutation_p.A110V|EBF2_ENST00000408929.3_Missense_Mutation_p.A231V NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 379 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.A379V(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCCATAAAGAGCTTCCACTAG 0.403000 29 61 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55805463 55805463 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:55805463C>T ENST00000309383.1 + 5 814 c.537C>T c.(535-537)tcC>tcT p.S179S BRSK1_ENST00000585418.1_Silent_p.S179S|BRSK1_ENST00000590333.1_Silent_p.S195S NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 179 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCATGGCGTCCCTGCAGGTGG 0.612000 86 180 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088558 86088558 + Missense_Mutation SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:86088558G>C ENST00000330753.4 + 2 1467 c.700G>C c.(700-702)Gaa>Caa p.E234Q FLRT2_ENST00000554746.1_Missense_Mutation_p.E234Q NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 234 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CAAGCTCAAGGAATTTTCAAT 0.517000 43 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595650 179595650 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179595650A>G ENST00000589042.1 - 60 17965 c.e60+1 TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACAATACCAACCTAATACAT 0.338000 86 167 0 0 1 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252139 26252139 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:26252139T>C ENST00000356350.2 + 1 261 c.261T>C c.(259-261)cgT>cgC p.R87R NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 87 nucleosome assembly nucleosome|nucleus DNA binding NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 ACAACAAGCGTTCGACCATCA 0.602000 64 149 0 0 1 0 0 ENTPD5 957 broad.mit.edu 37 14 74439639 74439639 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:74439639G>A ENST00000334696.6 - 13 1294 c.975C>T c.(973-975)tcC>tcT p.S325S ENTPD5_ENST00000557325.1_Silent_p.S325S NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 325 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) AAGCATAGAAGGAACCTCTCT 0.537000 70 108 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247737516 247737516 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:247737516C>T ENST00000366491.2 + 7 677 c.180C>T c.(178-180)tcC>tcT p.S60S GCSAML_ENST00000366488.4_Silent_p.S80S|GCSAML_ENST00000536561.1_Silent_p.S60S|GCSAML_ENST00000366489.1_Silent_p.S60S|GCSAML_ENST00000527541.1_Silent_p.S48S|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Silent_p.S48S|GCSAML_ENST00000463359.1_Silent_p.S48S|RP11-978I15.10_ENST00000446347.1_RNA germinal center-associated, signaling and motility-like ATCAGAGATCCTCCCTGAGCT 0.438000 46 42 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49750127 49750127 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:49750127G>A ENST00000432042.1 + 24 2534 c.2274G>A c.(2272-2274)aaG>aaA p.K758K RNF123_ENST00000327697.6_Intron Q5XPI4 RN123_HUMAN ring finger protein 123 0 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) AAGCAGAAAAGGGGTCTCTAG 0.577000 10 30 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750217 233750217 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:233750217G>A ENST00000366621.3 + 1 468 c.300G>A c.(298-300)tgG>tgA p.W100* NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 100 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CGGGCAACTGGAACTGGGACT 0.682000 14 19 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15639211 15639211 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:15639211T>A ENST00000378076.3 - 21 2559 c.2206A>T c.(2206-2208)Aca>Tca p.T736S ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 736 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTTACATTTGTTCCAGACACC 0.448000 35 32 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61306534 61306534 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:61306534G>A ENST00000341074.5 - 7 768 c.653C>T c.(652-654)tCc>tTc p.S218F SERPINB4_ENST00000356424.6_Intron NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 AAAATTAAAGGAATTGTATTG 0.368000 13 13 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141680542 141680542 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:141680542C>T ENST00000389484.3 - 21 4282 c.3311G>A c.(3310-3312)tGg>tAg p.W1104* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1104 LDL-receptor class A 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTGTACTCCAACAGGAAAA 0.433000 TSP Lung(27;0.18) 46 39 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65104786 65104786 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:65104786G>A ENST00000358691.5 - 30 4712 c.4546C>T c.(4546-4548)Cag>Tag p.Q1516* HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1517* NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTCCACTGCTGGAACCGTGCC 0.507000 36 49 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24590118 24590118 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:24590118C>T ENST00000446197.3 + 12 1891 c.1164C>T c.(1162-1164)tcC>tcT p.S388S DCAF11_ENST00000396936.1_Silent_p.S288S|DCAF11_ENST00000559115.1_Silent_p.S388S|DCAF11_ENST00000396941.4_Silent_p.S362S NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 388 CUL4 RING ubiquitin ligase complex protein binding GACGCTTTTCCAGCCGGGAAG 0.517000 53 60 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369458 56369458 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:56369458C>T ENST00000301295.6 + 3 1121 c.699C>T c.(697-699)ttC>ttT p.F233F NLRP4_ENST00000587891.1_Silent_p.F158F|NLRP4_ENST00000346986.5_Silent_p.F233F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 233 NACHT. ATP binding p.F233F(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCGACAGCTTCGAAGAGCTGC 0.547000 55 41 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315760 12315760 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:12315760G>A ENST00000256186.2 + 3 1073 c.782G>A c.(781-783)cGa>cAa p.R261Q NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 261 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.R261Q(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CAAGGGGAGCGAAACGTGCCT 0.642000 25 1 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156144622 156144622 + Missense_Mutation SNP C C T rs111977724 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:156144622C>T ENST00000368285.3 + 12 1592 c.1325C>T c.(1324-1326)tCg>tTg p.S442L SEMA4A_ENST00000355014.2_Missense_Mutation_p.S442L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S442L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S310L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S310L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 442 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GCCACAGGGTCGCTCCACAAG 0.572000 18 36 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77378743 77378743 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:77378743G>A ENST00000334955.7 + 3 733 c.706G>A c.(706-708)Ggg>Agg p.G236R RSBN1L_ENST00000445288.1_5'UTR NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 236 Lys-rich. nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCAACAGGTGGGAAGGAGAA 0.294000 7 0 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141754 29141754 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:29141754C>T ENST00000377167.2 + 1 444 c.342C>T c.(340-342)gtC>gtT p.V114V NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CAGAGTGTGTCCTACTGGTGG 0.488000 274 153 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073276 34073276 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:34073276C>T ENST00000254466.6 - 6 1267 c.1240G>A c.(1240-1242)Gga>Aga p.G414R GAS2L2_ENST00000587565.1_Missense_Mutation_p.G398R NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 414 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGAATCCTTCCCCTGGGGAGT 0.597000 84 122 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119427889 119427889 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:119427889G>A ENST00000371369.4 - 3 445 c.219C>T c.(217-219)ttC>ttT p.F73F TMEM255A_ENST00000309720.5_Silent_p.F73F|TMEM255A_ENST00000440464.1_Silent_p.F73F NM_001104544.1 NP_001098014.1 transmembrane protein 255A TGATTCCAAGGAACGATCCAA 0.408000 32 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13700953 13700953 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:13700953C>T ENST00000265104.4 - 78 13623 c.13519G>A c.(13519-13521)Gct>Act p.A4507T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4507 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGTCCAGAGCCCAGCCTTTG 0.438000 Kartagener syndrome 30 38 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104171814 104171814 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:104171814G>A ENST00000392876.3 - 14 1480 c.1440C>T c.(1438-1440)ttC>ttT p.F480F NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 480 hydrolase activity|metal ion binding p.F480L(1)|p.F405L(1) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GGTCTGTGCGGAACAGGCTTC 0.478000 19 30 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496705 20496705 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:20496705G>A ENST00000555186.1 + 0 758 NR_038836.1 GTTTGAACATGAAAGAAATGT 0.423000 8 38 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545867 22545867 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:22545867C>T ENST00000424340.1 + 7 1842 c.1563C>T c.(1561-1563)gcC>gcT p.A521A NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Silent_p.A521A NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGCTCACTGCCCTTCCACCCT 0.572000 32 271 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719488 48719488 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:48719488G>A ENST00000294129.2 - 4 707 c.588C>T c.(586-588)gcC>gcT p.A196A NCKIPSD_ENST00000416649.2_Silent_p.A189A|NCKIPSD_ENST00000341520.4_Silent_p.A196A NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 196 Pro-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CACTCCCAGAGGCCATCAGGG 0.612000 37 20 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962639 69962639 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:69962639A>G ENST00000305231.7 + 1 447 c.401A>G c.(400-402)aAg>aGg p.K134R UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.K134R NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 134 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTTTCAAATAAGAAATTTATG 0.323000 17 19 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99879297 99879297 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:99879297G>A ENST00000331768.5 - 8 999 c.840C>T c.(838-840)acC>acT p.T280T SETD3_ENST00000436070.2_Silent_p.T280T|SETD3_ENST00000329331.3_Silent_p.T280T NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 280 SET. peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) CCAGGCCGTTGGTGTGGTTAC 0.512000 16 27 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376706 8376706 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:8376706C>T ENST00000538603.1 - 5 787 c.229G>A c.(229-231)Gaa>Aaa p.E77K FAM90A1_ENST00000307435.6_Missense_Mutation_p.E77K NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 77 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TCCTTCCCTTCCTTTTCCCCA 0.552000 50 57 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28623772 28623772 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:28623772C>T ENST00000380982.4 - 7 963 c.882_splice c.e7+1 p.E294_splice FLT3_ENST00000241453.7_Splice_Site_p.E294_splice|FLT3_ENST00000537084.1_Splice_Site_p.E294_splice P36888 FLT3_HUMAN fms-related tyrosine kinase 3 294 Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GTCCTATTACCTCCTCGAGTG 0.383000 """Mis, O""" """AML, ALL""" 14 114 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24655610 24655610 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:24655610G>A ENST00000354464.6 - 10 1064 c.888C>T c.(886-888)ttC>ttT p.F296F RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 296 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CCACAATGGGGAAAAGGGTGT 0.562000 66 78 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29641238 29641238 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:29641238G>A ENST00000376883.1 - 6 1001 c.590C>T c.(589-591)tCc>tTc p.S197F ZFP57_ENST00000376881.3_Missense_Mutation_p.S197F|ZFP57_ENST00000488757.1_Missense_Mutation_p.S217F Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 133 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 ATAGCTGAGGGACTTGGGGCT 0.537000 54 135 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9044649 9044649 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:9044649G>A ENST00000382496.5 - 22 3606 c.2941C>T c.(2941-2943)Ctc>Ttc p.L981F CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 981 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AGGCAGCCGAGGATGGAGCTG 0.567000 22 37 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190430207 190430207 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:190430207C>T ENST00000261024.2 - 6 1059 c.633G>A c.(631-633)tgG>tgA p.W211* NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 211 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) ATACCAAGTTCCATCCCGAAA 0.488000 45 29 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643198 1643198 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:1643198A>C ENST00000399682.1 - 1 170 c.126T>G c.(124-126)tgT>tgG p.C42W NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 42 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cacagcccccacagccggagc 0.697000 40 4 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126741134 126741134 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:126741134C>T ENST00000251772.4 + 21 4245 c.4176C>T c.(4174-4176)ctC>ctT p.L1392L PLXNA1_ENST00000393409.2_Silent_p.L1415L Q9UIW2 PLXA1_HUMAN plexin A1 1415 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TTTCCGACCTCATCGAGAAGA 0.652000 19 19 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17108112 17108112 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:17108112C>T ENST00000443236.1 - 11 1076 c.1045G>A c.(1045-1047)Gac>Aac p.D349N CPAMD8_ENST00000388925.4_Missense_Mutation_p.D302N NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 302 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGGATCATGTCCCTCACGCAG 0.617000 5 7 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513913 1513913 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:1513913G>A ENST00000421627.2 + 3 1189 c.1055G>A c.(1054-1056)aGa>aAa p.R352K RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 431 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCTGCAGGAGAATGAGAAGT 0.542000 6 14 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619234 71619234 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:71619234C>T ENST00000408926.3 + 4 873 c.339C>T c.(337-339)ttC>ttT p.F113F XKR9_ENST00000520030.1_Silent_p.F113F|XKR9_ENST00000520273.1_3'UTR NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 113 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) CTAGTAACTTCGTGGAAGAAC 0.358000 36 21 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146658739 146658739 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:146658739T>A ENST00000254090.4 - 9 1730 c.1342A>T c.(1342-1344)Aat>Tat p.N448Y FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 448 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) GACAGCAGATTGGGCCTGACC 0.507000 25 62 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 120995135 120995135 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:120995135T>C ENST00000325954.4 + 5 1157 c.696T>C c.(694-696)ccT>ccC p.P232P RNF10_ENST00000413266.2_Silent_p.P232P NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 232 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTATCCACCTACTGCAGCCA 0.478000 64 73 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11598418 11598418 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:11598418G>A ENST00000293771.5 - 4 996 c.860C>T c.(859-861)gCg>gTg p.A287V CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A287V(1) endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 GCTGGGGCCCGCACCCACTTG 0.687000 4 90 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14730271 14730271 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:14730271G>A ENST00000253673.5 - 16 2033 c.1933C>T c.(1933-1935)Cca>Tca p.P645S EMR3_ENST00000344373.4_Missense_Mutation_p.P593S|EMR3_ENST00000599900.1_Missense_Mutation_p.P430S|EMR3_ENST00000443157.2_Missense_Mutation_p.P519S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 645 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ACTTGTCCTGGAAAAACATCC 0.338000 46 34 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:66729162C>T ENST00000307102.5 + 3 901 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(8) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 26 29 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043690 77043690 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:77043690G>A ENST00000339142.2 + 5 921 c.366G>A c.(364-366)agG>agA p.R122R C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Silent_p.R122R|C1QTNF1_ENST00000580454.1_Silent_p.R122R|C1QTNF1_ENST00000581774.1_Silent_p.R122R|C1QTNF1_ENST00000580474.1_Silent_p.R122R|C1QTNF1_ENST00000578229.1_Silent_p.R40R|C1QTNF1_ENST00000392445.2_Silent_p.R122R|C1QTNF1_ENST00000354124.3_Silent_p.R132R|C1QTNF1_ENST00000579760.1_Silent_p.R122R|C1QTNF1_ENST00000311661.4_Silent_p.R40R NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 122 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) CAGGGGCCAGGGGCCACACTG 0.627000 47 72 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14666552 14666552 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:14666552T>C ENST00000282096.4 + 1 1284 c.931T>C c.(931-933)Tgc>Cgc p.C311R PDE3B_ENST00000455098.2_Missense_Mutation_p.C311R|PDE3B_ENST00000534317.1_3'UTR NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 311 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTATGGCAGTTGCAAAATATT 0.552000 76 7 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201013573 201013573 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:201013573C>T ENST00000362061.3 - 39 4906 c.4680G>A c.(4678-4680)cgG>cgA p.R1560R CACNA1S_ENST00000367338.3_Silent_p.R1541R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1560 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCAATGGTCCGCAGCCCTG 0.582000 36 71 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49674964 49674964 + Missense_Mutation SNP G G A rs145771389 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:49674964G>A ENST00000252826.5 + 8 1114 c.988G>A c.(988-990)Gaa>Aaa p.E330K TRPM4_ENST00000355712.5_Missense_Mutation_p.E47K|TRPM4_ENST00000427978.2_Missense_Mutation_p.E330K|TRPM4_ENST00000601347.1_3'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 330 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CAGGCAAGGCGAAGCCCGAGA 0.642000 36 32 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152800131 152800131 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:152800131C>T ENST00000335123.2 + 1 183 c.183C>T c.(181-183)agC>agT p.S61S NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 61 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCGGCTGCAGCTCTGGGGGAG 0.677000 47 56 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31744340 31744340 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:31744340G>A ENST00000375686.3 - 2 454 c.217C>T c.(217-219)Cgt>Tgt p.R73C VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R73C|VWA7_ENST00000375688.4_Missense_Mutation_p.R73C NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 73 extracellular region TCCTCAAGACGAAGAGGGGGG 0.632000 146 361 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251631 24251631 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:24251631G>A ENST00000538205.1 + 5 644 c.97G>A c.(97-99)Gag>Aag p.E33K RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E112K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E33K|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 112 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) ACCCAGAGGAGAGGAAATTAC 0.458000 15 27 0 0 1 0 0 LGALS14 56891 broad.mit.edu 37 19 40196569 40196569 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:40196569C>T ENST00000360675.3 + 2 288 c.22C>T c.(22-24)Cat>Tat p.H8Y LGALS14_ENST00000392052.3_Intron NM_203471.1 NP_982297.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 0 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) CCACAGGCTTCATTTGTGCAA 0.478000 66 50 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156817538 156817538 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:156817538C>T ENST00000347377.6 + 30 3887 c.3456C>T c.(3454-3456)ttC>ttT p.F1152F CYFIP2_ENST00000318218.6_Silent_p.F1177F|CYFIP2_ENST00000377576.3_Silent_p.F1152F|CYFIP2_ENST00000521420.1_Silent_p.F1126F|CYFIP2_ENST00000435847.2_Silent_p.F851F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.F956F|CYFIP2_ENST00000541131.1_Silent_p.F1077F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1177 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCAGTGTTTCGGCGATGGCT 0.607000 101 147 0 0 1 0 0 FAM98B 283742 broad.mit.edu 37 15 38757556 38757556 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:38757556G>A ENST00000397609.2 + 3 339 c.304G>A c.(304-306)Gat>Aat p.D102N FAM98B_ENST00000491535.1_Missense_Mutation_p.D102N NM_173611.2 NP_775882.2 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 102 tRNA-splicing ligase complex protein binding endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) CATATCAGGAGATATTAAAGA 0.308000 10 13 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151018346 151018346 + Missense_Mutation SNP C C T rs150851524 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:151018346C>T ENST00000295294.7 + 8 1288 c.679C>T c.(679-681)Cgg>Tgg p.R227W BNIPL_ENST00000491386.1_3'UTR|BNIPL_ENST00000368931.3_Missense_Mutation_p.R309W NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 309 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCACTGCTTCGGCCCTTCAT 0.443000 62 114 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060828 9060828 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:9060828G>A ENST00000397910.4 - 3 26821 c.26618C>T c.(26617-26619)tCt>tTt p.S8873F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8875 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTACTCTCAGATGGTGTGGA 0.507000 39 69 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839399 62839399 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:62839399G>A ENST00000536311.1 + 7 1214 c.850G>A c.(850-852)Gaa>Aaa p.E284K MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E284K Q01538 MYT1_HUMAN myelin transcription factor 1 284 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agaggaggaggaagaggaaga 0.557000 10 11 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861301 52861301 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:52861301G>A ENST00000343457.3 - 4 1893 c.1887C>T c.(1885-1887)tcC>tcT p.S629S NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 629 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GCAAATCAATGGATGAACTCA 0.522000 19 37 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167631594 167631594 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:167631594C>T ENST00000519204.1 + 18 3547 c.3429C>T c.(3427-3429)ccC>ccT p.P1143P TENM2_ENST00000520394.1_Silent_p.P1032P|TENM2_ENST00000403607.2_Silent_p.P1088P|TENM2_ENST00000518659.1_Silent_p.P1264P|TENM2_ENST00000545108.1_Silent_p.P1264P teneurin transmembrane protein 2 GCATCTTTCCCTCTCGAAATG 0.517000 18 28 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89531573 89531573 + Missense_Mutation SNP G G A rs9667365 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:89531573G>A ENST00000329758.1 - 8 1412 c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W TRIM49_ENST00000532501.2_Missense_Mutation_p.R285W NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 362 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTCTCTTTCCGATACATATTA 0.448000 32 49 0 0 1 0 0 FAM189B 10712 broad.mit.edu 37 1 155217666 155217666 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:155217666G>A ENST00000361361.2 - 12 2423 c.1914C>T c.(1912-1914)tcC>tcT p.S638S FAM189B_ENST00000350210.2_Silent_p.S542S|FAM189B_ENST00000368368.3_Silent_p.S620S NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 638 Poly-Ser. integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GACGCCGCAGGGAAGAGCTAG 0.687000 9 7 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802635 31802635 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:31802635C>T ENST00000334068.2 + 1 64 c.42C>T c.(40-42)tcC>tcT p.S14S NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 14 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 CCTCCCGCTCCTTTGGGGGCT 0.542000 50 85 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8517990 8517990 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:8517990C>T ENST00000381196.4 - 18 1944 c.1401G>A c.(1399-1401)atG>atA p.M467I PTPRD_ENST00000397617.3_Missense_Mutation_p.M457I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M467I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M454I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M464I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M454I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M467I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M467I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M467I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M457I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M464I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 467 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CATTGTGTTTCATCCAGTTGT 0.408000 TSP Lung(15;0.13) 105 7 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957304 12957304 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:12957304G>A ENST00000276297.4 - 9 2951 c.2542C>T c.(2542-2544)Cac>Tac p.H848Y DLC1_ENST00000520226.1_Missense_Mutation_p.H337Y|DLC1_ENST00000358919.2_Missense_Mutation_p.H411Y|DLC1_ENST00000512044.2_Missense_Mutation_p.H445Y NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 848 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGGCTGATGTGGCCAGGGCCG 0.577000 27 66 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38463714 38463714 + Nonsense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:38463714G>T ENST00000404072.3 + 5 633 c.286G>T c.(286-288)Gag>Tag p.E96* PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Nonsense_Mutation_p.E96*|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 96 PDZ. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) CTTCCAGGGGGAGGTGACCAT 0.602000 52 4 1.56241e-48 1.59324e-48 1 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806258 97806258 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:97806258C>T ENST00000358642.2 + 1 242 c.242C>T c.(241-243)cCt>cTt p.P81L NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TCTATAACCCCTAGGATGCTG 0.418000 52 122 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75187946 75187946 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:75187946G>A ENST00000299432.2 - 2 162 c.97C>T c.(97-99)Ctg>Ttg p.L33L MSS51_ENST00000372912.1_Silent_p.L33L NM_001024593.1 NP_001019764.1 Q4VC12 ZMY17_HUMAN MSS51 mitochondrial translational activator 33 zinc ion binding GAGGGGGTCAGAGGCACAGGG 0.552000 30 24 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15648358 15648358 + Missense_Mutation SNP C C T rs144983869 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:15648358C>T ENST00000378076.3 - 18 2181 c.1828G>A c.(1828-1830)Gaa>Aaa p.E610K NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 610 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AAGGTGGATTCGTCCAAACTG 0.373000 11 27 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229738377 229738377 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:229738377G>A ENST00000366675.3 - 4 625 c.537C>T c.(535-537)ctC>ctT p.L179L TAF5L_ENST00000258281.2_Silent_p.L179L|TAF5L_ENST00000366676.1_Silent_p.L179L NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 179 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TGTCACTTTGGAGGTAGCGGA 0.468000 107 90 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32058175 32058175 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:32058175G>A ENST00000438447.1 + 12 2554 c.2166G>A c.(2164-2166)aaG>aaA p.K722K PDZD2_ENST00000282493.3_Silent_p.K722K O15018 PDZD2_HUMAN PDZ domain containing 2 722 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGGGCCCAAGGACAGGATCG 0.502000 21 32 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32410366 32410366 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32410366G>A ENST00000395388.2 + 2 333 c.224G>A c.(223-225)cGa>cAa p.R75Q HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R75Q NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 75 Alpha-1. R -> P (in Ref. 12; AA sequence). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 GAATTTGGACGATTTGCCAGC 0.473000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 69 181 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277348 186277348 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:186277348G>A ENST00000445192.2 + 7 2542 c.2497G>A c.(2497-2499)Gag>Aag p.E833K PRG4_ENST00000367484.3_Splice_Site_p.E362_splice|PRG4_ENST00000367486.3_Missense_Mutation_p.E790K|PRG4_ENST00000367485.4_Missense_Mutation_p.E740K|PRG4_ENST00000367483.4_Missense_Mutation_p.E792K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 833 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TACCCCCAAGGAGCCTGCACC 0.582000 161 166 0 0 1 0 0 LSMEM1 286006 broad.mit.edu 37 7 112129956 112129956 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:112129956C>T ENST00000312849.4 + 4 709 c.348C>T c.(346-348)atC>atT p.I116I LSMEM1_ENST00000439068.2_Silent_p.I116I|LSMEM1_ENST00000486022.1_3'UTR NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 ATAACATGATCGTAAAGCGAC 0.373000 48 25 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55573425 55573425 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:55573425C>T ENST00000288135.5 + 6 1184 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 363 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGAAGATTATCCCAAGTCTGA 0.398000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 7 8 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139793219 139793219 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:139793219G>A ENST00000303045.6 - 13 2047 c.1601C>T c.(1600-1602)tCc>tTc p.S534F COL22A1_ENST00000435777.1_Missense_Mutation_p.S534F NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 534 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGGCCCAGGGAACCCTAAAG 0.532000 HNSCC(7;0.00092) 35 98 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79308781 79308781 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:79308781G>A ENST00000264895.6 + 29 4341 c.3901G>A c.(3901-3903)Gat>Aat p.D1301N FRAS1_ENST00000325942.6_Missense_Mutation_p.D1301N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1300 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CAGCACATCCGATGTTGCAGT 0.488000 11 18 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99126278 99126278 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:99126278G>A ENST00000370992.4 - 28 3427 c.3316C>T c.(3316-3318)Cgg>Tgg p.R1106W RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.R824W|RRP12_ENST00000414986.1_Missense_Mutation_p.R1045W|RRP12_ENST00000315563.6_Missense_Mutation_p.R1006W NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1106 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) AGCCATGCCCGGCTCCTCTGT 0.607000 46 56 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180374682 180374682 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:180374682G>A ENST00000231229.4 + 4 1078 c.844G>A c.(844-846)Gga>Aga p.G282R BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G282R|BTNL8_ENST00000400707.3_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 139 B30.2/SPRY. integral to membrane p.G282*(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCAGGGACAGGATCAGAGAT 0.488000 110 161 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33055774 33055774 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:33055774G>A ENST00000307363.5 - 15 1652 c.1508C>T c.(1507-1509)tCc>tTc p.S503F GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.S551F|GLB1_ENST00000399402.3_Missense_Mutation_p.S473F|GLB1_ENST00000307377.8_Missense_Mutation_p.S372F NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 503 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GAGGATATTGGAACTGAGAGT 0.542000 6 25 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77910297 77910297 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:77910297G>A ENST00000302536.2 + 5 906 c.753G>A c.(751-753)ttG>ttA p.L251L VAT1L_ENST00000563850.1_3'UTR NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 251 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 ACATCGTTTTGGATTGCCTCT 0.473000 49 78 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55755466 55755466 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:55755466C>T ENST00000373965.2 - 22 3226 c.2832G>A c.(2830-2832)ccG>ccA p.P944P PCDH15_ENST00000409834.1_Silent_p.P548P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P915P|PCDH15_ENST00000395430.1_Silent_p.P937P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P900P|PCDH15_ENST00000395445.1_Silent_p.P944P|PCDH15_ENST00000320301.6_Silent_p.P937P|PCDH15_ENST00000437009.1_Silent_p.P866P|PCDH15_ENST00000361849.3_Silent_p.P937P|PCDH15_ENST00000395438.1_Silent_p.P937P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P942P|PCDH15_ENST00000373955.1_Silent_p.P937P|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 937 Cadherin 9. 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) TGACTGCATCCGGAGCCACCA 0.393000 HNSCC(58;0.16) 16 29 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012310 46012310 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:46012310A>G ENST00000400368.1 - 1 76 c.56T>C c.(55-57)gTc>gCc p.V19A TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 19 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGAAGGCAGACGCGGCTGCC 0.672000 4 58 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145979965 145979965 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:145979965C>T ENST00000394413.3 - 7 1419 c.849G>A c.(847-849)tcG>tcA p.S283S PPP2R2B_ENST00000453001.1_Silent_p.S283S|PPP2R2B_ENST00000508545.2_Silent_p.S272S|PPP2R2B_ENST00000394409.3_Silent_p.S341S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000394411.4_Silent_p.S283S|PPP2R2B_ENST00000336640.6_Silent_p.S286S|PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000394410.2_Silent_p.S272S Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 283 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCCGAAATCGAAGAGATAA 0.428000 30 33 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71571443 71571443 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:71571443C>T ENST00000338482.5 + 3 1206 c.863C>T c.(862-864)tCc>tTc p.S288F CHST4_ENST00000572450.1_Missense_Mutation_p.S288F|CHST4_ENST00000539698.3_Missense_Mutation_p.S288F|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 288 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GCCCAGACTTCCCGAATGTAT 0.567000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 28 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667297 72667297 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:72667297G>A ENST00000373514.2 + 1 208 c.208G>A c.(208-210)Gga>Aga p.G70R NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 70 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) GCCGTCTCTGGGAGTCTGGGG 0.602000 9 9 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70778320 70778320 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:70778320C>T ENST00000322773.4 + 15 1278 c.1176C>T c.(1174-1176)tcC>tcT p.S392S COL19A1_ENST00000393344.1_Silent_p.S14S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 392 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CATAGGGTTCCCTGGGGATAC 0.408000 27 3 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760987 20760987 + Missense_Mutation SNP C C G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:20760987C>G ENST00000400451.2 + 5 2178 c.1664C>G c.(1663-1665)tCg>tGg p.S555W ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.S523W|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S555W NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 555 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGGGAGAAGTCGTTTAAGTGT 0.552000 79 9 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7707833 7707833 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:7707833C>T ENST00000338316.4 + 9 1372 c.1283C>T c.(1282-1284)tCt>tTt p.S428F ADCY2_ENST00000537121.1_Missense_Mutation_p.S248F NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 428 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GTTCACATTTCTTCTGTCACC 0.388000 21 21 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44096470 44096470 + Missense_Mutation SNP C C T rs145524590 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:44096470C>T ENST00000494774.1 + 5 463 c.442C>T c.(442-444)Cgc>Tgc p.R148C DBNL_ENST00000490734.2_Missense_Mutation_p.R53C|DBNL_ENST00000448521.1_Missense_Mutation_p.R148C|DBNL_ENST00000440166.1_Missense_Mutation_p.R45C|DBNL_ENST00000452943.1_Missense_Mutation_p.R123C|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.R148C NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 148 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 GGAGAGTGGCCGCTTCCAGGA 0.617000 13 80 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4867659 4867659 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:4867659G>A ENST00000321919.9 - 10 922 c.846C>T c.(844-846)atC>atT p.I282I GLYR1_ENST00000381983.3_Silent_p.I265I|GLYR1_ENST00000436648.5_Silent_p.I201I|GLYR1_ENST00000591451.1_Silent_p.I282I NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 282 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 AGTTGGAGACGATTCCACTTC 0.502000 55 62 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113898732 113898732 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:113898732G>A ENST00000451881.1 + 12 1186 c.937G>A c.(937-939)Gtg>Atg p.V313M CUL4A_ENST00000375440.4_Missense_Mutation_p.V413M|CUL4A_ENST00000326335.4_Missense_Mutation_p.V313M|CUL4A_ENST00000375441.3_Missense_Mutation_p.V313M NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 413 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) AGCAAAGCATGTGGATTCAAA 0.408000 6 29 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107524289 107524289 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:107524289C>T ENST00000416476.2 + 17 2022 c.1802C>T c.(1801-1803)cCt>cTt p.P601L BBX_ENST00000415149.2_Silent_p.S907S|BBX_ENST00000325805.8_Silent_p.S937S|BBX_ENST00000402543.1_Silent_p.S887S|BBX_ENST00000406780.1_Silent_p.S907S Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 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) TACTTATTTCCTGCGCTGACC 0.473000 29 59 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110503324 110503324 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:110503324G>A ENST00000378402.5 + 61 10212 c.10108G>A c.(10108-10110)Ggg>Agg p.G3370R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3370 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTTTACAGTGGGGGAAGGTAA 0.393000 HNSCC(38;0.096) 24 74 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123485331 123485331 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:123485331G>A ENST00000280562.5 - 9 1423 c.1218C>T c.(1216-1218)atC>atT p.I406I PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.I406I|PITPNM2_ENST00000320201.4_Silent_p.I406I|PITPNM2_ENST00000392428.1_Silent_p.I127I|PITPNM2_ENST00000546049.1_Silent_p.I444I Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 406 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCACCTCTATGATGTTCAGCT 0.617000 15 29 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44610893 44610893 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:44610893C>T ENST00000336976.6 + 6 834 c.580C>T c.(580-582)Cat>Tat p.H194Y AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 194 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CCTTCGTATTCATCAGAGAGT 0.423000 42 82 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156509647 156509647 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:156509647G>A ENST00000361170.2 - 24 2885 c.2875C>T c.(2875-2877)Ctc>Ttc p.L959F NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 959 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGTAGAAGAGGTGTTGGTAT 0.488000 38 69 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107863518 107863518 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:107863518G>A ENST00000328300.6 + 31 2783 c.2539G>A c.(2539-2541)Gat>Aat p.D847N COL4A5_ENST00000361603.2_Missense_Mutation_p.D847N NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 847 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGAGAAGGGGGATCCAGGACC 0.458000 Alport syndrome with Diffuse Leiomyomatosis 40 6 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7727904 7727904 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:7727904C>T ENST00000454689.1 - 0 37 RP11-35J10.4_ENST00000527443.1_RNA|RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) AAAGACTATTCCTAGTAGTAA 0.363000 5 1 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43381975 43381975 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:43381975C>T ENST00000296088.7 + 5 1232 c.928C>T c.(928-930)Cga>Tga p.R310* SNRK_ENST00000454177.1_Nonsense_Mutation_p.R310*|SNRK_ENST00000437827.1_Nonsense_Mutation_p.R104*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R310* NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 310 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CATAGCGGATCGAGACGCCAT 0.483000 17 32 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26690042 26690042 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:26690042G>A ENST00000272371.2 - 35 4413 c.4287C>T c.(4285-4287)ttC>ttT p.F1429F OTOF_ENST00000402415.3_Silent_p.F739F|OTOF_ENST00000338581.6_Silent_p.F662F|OTOF_ENST00000339598.3_Silent_p.F662F|OTOF_ENST00000403946.3_Silent_p.F1429F NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1429 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGCAAGTTGAAAGTGTGCA 0.597000 50 40 0 0 1 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518850 106518850 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:106518850C>T ENST00000390598.2 - 0 82 AGCCCCAATTCCATGGTGAGT 0.498000 41 71 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166935709 166935709 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:166935709C>T ENST00000061240.2 + 8 1686 c.1039C>T c.(1039-1041)Cca>Tca p.P347S TLL1_ENST00000513213.1_Missense_Mutation_p.P347S|TLL1_ENST00000507499.1_Missense_Mutation_p.P347S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 347 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTATAGATGTCCAGGTATTGC 0.453000 58 64 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 15 37 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41072173 41072173 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:41072173G>A ENST00000352632.3 + 30 6330 c.6244G>A c.(6244-6246)Gag>Aag p.E2082K SPTBN4_ENST00000392025.1_Missense_Mutation_p.E825K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E2082K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2082K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2082 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGCGTGGATGAGGTGGAGCA 0.667000 3 5 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42818719 42818719 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:42818719C>T ENST00000315005.3 + 10 867 c.729C>T c.(727-729)ttC>ttT p.F243F DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Silent_p.F243F NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 243 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) TTCGTCCTTTCCATCATCAGT 0.493000 47 44 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97862340 97862340 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:97862340G>A ENST00000420699.2 + 41 2806 c.2562G>A c.(2560-2562)caG>caA p.Q854Q ANKRD36_ENST00000461153.2_Silent_p.Q854Q NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 854 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TGTCTTCTCAGAAACCACCAA 0.333000 6 25 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129658543 129658543 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:129658543G>A ENST00000358303.4 - 10 1554 c.1470C>T c.(1468-1470)ttC>ttT p.F490F RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Silent_p.F469F|ZC3HC1_ENST00000360708.5_Silent_p.F419F|ZC3HC1_ENST00000481503.1_Silent_p.F447F|RP11-306G20.1_ENST00000480018.1_RNA NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 490 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GAAATATTCGGAATACTTTCC 0.393000 11 64 0 0 1 0 0 PRUNE 58497 broad.mit.edu 37 1 150998085 150998085 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:150998085C>T ENST00000271620.3 + 5 771 c.615C>T c.(613-615)ttC>ttT p.F205F PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000271619.8_Silent_p.F46F|PRUNE_ENST00000368937.1_Silent_p.F23F|PRUNE_ENST00000368934.1_Silent_p.F23F|PRUNE_ENST00000368936.1_Silent_p.F23F NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 205 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGGCCCTTTTCCCAGACCTAC 0.428000 37 104 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183510133 183510133 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:183510133C>T ENST00000367537.3 + 14 1592 c.1397C>T c.(1396-1398)tCc>tTc p.S466F SMG7_ENST00000515829.2_Missense_Mutation_p.S437F|SMG7_ENST00000456731.2_Missense_Mutation_p.S395F|SMG7_ENST00000508461.1_Missense_Mutation_p.S395F|SMG7_ENST00000507469.1_Missense_Mutation_p.S437F|SMG7_ENST00000347615.2_Missense_Mutation_p.S437F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 437 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTGGATTTTTCCAAAGGTCAC 0.393000 44 41 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886706 3886706 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:3886706G>A ENST00000319331.3 + 2 1142 c.381G>A c.(379-381)gaG>gaA p.E127E SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 127 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TGCATTTGGAGGAAAATCAGA 0.418000 15 27 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43262464 43262464 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:43262464C>T ENST00000255226.6 + 20 3559 c.2743C>T c.(2743-2745)Cag>Tag p.Q915* RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.Q915*|SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.Q392* NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 915 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AACAAAGTATCAGGCCTACGA 0.498000 38 50 0 0 1 0 0 OLA1 29789 broad.mit.edu 37 2 174988343 174988343 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:174988343G>A ENST00000284719.3 - 6 856 c.610C>T c.(610-612)Cat>Tat p.H204Y OLA1_ENST00000428402.2_Missense_Mutation_p.H204Y|OLA1_ENST00000409546.1_Missense_Mutation_p.H224Y|OLA1_ENST00000344357.5_Missense_Mutation_p.H46Y|OLA1_ENST00000392560.2_5'UTR NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 204 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TTCCAATCATGATAGAAGCGA 0.313000 41 44 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312509 45312509 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:45312509A>G ENST00000313237.5 - 4 365 c.213_splice c.e4-1 p.V72_splice PHF21B_ENST00000404079.2_Splice_Site_p.V60_splice|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Splice_Site_p.V72_splice|PHF21B_ENST00000447824.3_Splice_Site_p.V60_splice NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 72 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTTTGGCCTAACCTGGGAAGA 0.627000 74 4 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39871305 39871305 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:39871305C>T ENST00000314471.6 + 13 2763 c.1728C>T c.(1726-1728)ttC>ttT p.F576F SAMD4B_ENST00000598913.1_Silent_p.F576F|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 576 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCGGCAGTTCCCAATGCCTC 0.692000 29 21 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166905439 166905439 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:166905439C>T ENST00000423058.2 - 7 1002 c.985G>A c.(985-987)Ggt>Agt p.G329S SCN1A_ENST00000303395.4_Missense_Mutation_p.G329S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G329S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G329S NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 329 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTAAAAAACCCTCCAGGAAA 0.338000 14 22 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19559734 19559734 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:19559734A>G ENST00000176643.6 + 4 973 c.527A>G c.(526-528)cAg>cGg p.Q176R ALDH3A2_ENST00000581518.1_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.Q176R P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 176 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) CTCCTGAAGCAGCGATTTGAC 0.448000 13 31 0 0 1 0 0 DNAJC24 120526 broad.mit.edu 37 11 31436427 31436427 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:31436427G>A ENST00000536040.1 + 3 270 c.178G>A c.(178-180)Gaa>Aaa p.E60K DNAJC24_ENST00000465995.1_Missense_Mutation_p.E61K Q6P3W2 DJC24_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 24 60 J. protein folding heat shock protein binding|metal ion binding|unfolded protein binding p.E61K(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2) 11 GAAGTTCATCGAAATTGATCA 0.448000 26 3 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323387 152323387 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:152323387C>T ENST00000388718.5 - 3 6947 c.6875G>A c.(6874-6876)gGg>gAg p.G2292E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2292 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCAGTCTCCCATGAACTGT 0.493000 132 158 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008840 120008840 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:120008840C>T ENST00000371311.3 - 1 939 c.685G>A c.(685-687)Gag>Aag p.E229K NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 229 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 gcggcctcctctgGGGGTTTC 0.701000 72 8 0 0 1 0 0 PRCD 768206 broad.mit.edu 37 17 74538642 74538642 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:74538642G>A ENST00000586148.1 + 3 203 c.151G>A c.(151-153)Gaa>Aaa p.E51K PRCD_ENST00000592014.1_Missense_Mutation_p.E51K|PRCD_ENST00000592432.1_3'UTR|CYGB_ENST00000589145.1_Intron Q00LT1 PRCD_HUMAN progressive rod-cone degeneration 51 response to stimulus|visual perception cytoplasm|integral to membrane TAGGGAGAAAGAACCTCTGAA 0.587000 9 24 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502518 90502518 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:90502518G>A ENST00000325643.5 + 4 3182 c.3116G>A c.(3115-3117)gGg>gAg p.G1039E NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTGAAAGTGGGGGAGAAGCCC 0.607000 96 12 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207516588 207516588 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:207516588G>A ENST00000452335.2 - 12 1807 c.1691C>T c.(1690-1692)gCc>gTc p.A564V NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 564 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGCAGAGAAGGCCCTGCACAC 0.478000 25 44 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10032312 10032312 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:10032312G>A ENST00000378380.3 + 7 1974 c.1643_splice c.e7-1 p.A549_splice ANKEF1_ENST00000378392.1_Splice_Site_p.A549_splice|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 ATTTTACAGAGCTAACGTTAA 0.368000 11 32 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20568699 20568699 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:20568699T>C ENST00000377252.3 + 14 2382 c.1541T>C c.(1540-1542)gTt>gCt p.V514A PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.V465A NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 514 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TATGCTGAAGTTGAACCAGTT 0.418000 19 29 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650545 55650545 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:55650545C>T ENST00000339140.3 + 1 713 c.401C>T c.(400-402)tCc>tTc p.S134F NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 134 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CTGCCATCTTCCTCCAGTGAG 0.507000 16 4 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244947 1244947 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:1244947G>A ENST00000581398.1 + 0 901 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA NR_033339.1 CGGCCCGTCTGTCCACTGTCC 0.577000 5 11 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773711 35773711 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:35773711C>T ENST00000360215.1 + 1 641 c.264C>T c.(262-264)tcC>tcT p.S88S LHFPL5_ENST00000373853.1_Silent_p.S88S NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 88 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 ACTTCTCCTCCATCCCCTCTA 0.557000 87 279 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220315224 220315224 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:220315224C>T ENST00000366922.1 + 20 2609 c.2278C>T c.(2278-2280)Cgt>Tgt p.R760C IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 832 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGTAATAGTTCGTTCTTTTGC 0.378000 37 105 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42485983 42485983 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:42485983C>T ENST00000545399.1 - 10 1385 c.1231_splice c.e10-1 p.G411_splice ATP1A3_ENST00000302102.5_Splice_Site_p.G398_splice|ATP1A3_ENST00000543770.1_Splice_Site_p.G409_splice|ATP1A3_ENST00000602133.1_Splice_Site_p.G368_splice NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 398 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AAATGAGGTCCCTGGGGGAGG 0.632000 25 62 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38881674 38881674 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:38881674G>A ENST00000359357.3 + 65 9512 c.9258G>A c.(9256-9258)caG>caA p.Q3086Q DNAH8_ENST00000441566.1_Silent_p.Q3050Q|DNAH8_ENST00000449981.2_Silent_p.Q3303Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACTCTCTCAGGATCTTGCAG 0.378000 11 57 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29049078 29049078 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:29049078G>A ENST00000257189.4 + 12 1746 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 555 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGAGCCCAGGAACAGATACC 0.473000 61 76 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228678 21228678 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:21228678G>A ENST00000233242.1 - 26 11189 c.11062C>T c.(11062-11064)Cta>Tta p.L3688L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3688 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCAGCTTTAGGAAATCCCAT 0.433000 216 417 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245788 167245788 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:167245788G>A ENST00000308378.3 - 11 1673 c.1368C>T c.(1366-1368)tcC>tcT p.S456S WDR49_ENST00000476376.1_Silent_p.S281S|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 456 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGTTCTTACTGGAGTTAAGAC 0.373000 17 43 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1165156 1165156 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:1165156C>T ENST00000290902.5 - 3 671 c.339G>A c.(337-339)gcG>gcA p.A113A SPON2_ENST00000431380.1_Silent_p.A113A NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 113 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCGCCTCCCCCGCCGCCTCGA 0.692000 30 17 0 0 1 0 0 MYL4 4635 broad.mit.edu 37 17 45299745 45299745 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:45299745G>A ENST00000354968.1 + 6 615 c.e6-1 MYL4_ENST00000572316.1_Splice_Site|MYL4_ENST00000393450.1_Splice_Site NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 ACCCACCGCAGGAGAGAAGAT 0.522000 21 35 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48426627 48426627 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:48426627C>T ENST00000224605.2 - 3 1645 c.1380G>A c.(1378-1380)cgG>cgA p.R460R NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 460 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GAACCACATTCCGATTCTCAT 0.587000 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 75 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777764 183777764 + Silent SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:183777764G>T ENST00000318351.1 + 8 1108 c.1074G>T c.(1072-1074)ggG>ggT p.G358G NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 358 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCAGCCCAGGGAGATGCTGTC 0.632000 18 27 1.33834e-09 1.34795e-09 1 1 0 SMCHD1 23347 broad.mit.edu 37 18 2740736 2740736 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:2740736C>T ENST00000320876.6 + 28 3888 c.3550C>T c.(3550-3552)Caa>Taa p.Q1184* SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q1184*|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1184 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AAATCAGATTCAAGCATTTTC 0.299000 28 30 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578260 2578260 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:2578260C>T ENST00000302956.4 + 7 835 c.741C>T c.(739-741)atC>atT p.I247I AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.I247I|AMDHD2_ENST00000413459.3_Silent_p.I247I Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 247 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 ACCCAGGCATCGTGGGGCTCC 0.711000 25 66 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113928238 113928238 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:113928238G>A ENST00000348367.4 - 11 1136 c.939C>T c.(937-939)ttC>ttT p.F313F GPAM_ENST00000423155.1_Silent_p.F313F|GPAM_ENST00000369425.1_Silent_p.F313F Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 313 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TGCCTTCCAGGAAGATCTCCA 0.423000 29 34 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125727714 125727714 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:125727714G>A ENST00000383598.2 - 9 1322 c.1037C>T c.(1036-1038)tCc>tTc p.S346F SLC41A3_ENST00000346785.5_Missense_Mutation_p.S336F|SLC41A3_ENST00000315891.6_Missense_Mutation_p.S372F|SLC41A3_ENST00000508835.1_Missense_Mutation_p.S255F|SLC41A3_ENST00000360370.4_Missense_Mutation_p.S372F NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 372 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) AGCTGACATGGAATTGATTTC 0.498000 29 48 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45633577 45633577 + Missense_Mutation SNP C C T rs146151355 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:45633577C>T ENST00000267430.5 + 10 1682 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 533 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAACAGTTTCGTGACGGTGG 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 17 17 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41546047 41546047 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:41546047G>A ENST00000396942.1 - 34 4248 c.4165C>T c.(4165-4167)Ctc>Ttc p.L1389F ANK1_ENST00000347528.4_Missense_Mutation_p.L1389F|ANK1_ENST00000289734.7_Missense_Mutation_p.L1389F|ANK1_ENST00000265709.8_Missense_Mutation_p.L1430F|ANK1_ENST00000396945.1_Missense_Mutation_p.L1389F|ANK1_ENST00000352337.4_Missense_Mutation_p.L1389F|ANK1_ENST00000379758.2_Missense_Mutation_p.L1389F P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1389 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GACTCACTGAGAATGCTGTAT 0.587000 26 38 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107096720 107096720 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:107096720G>A ENST00000261058.1 + 1 533 c.286G>A c.(286-288)Gaa>Aaa p.E96K NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 96 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AAAAGTCCAGGAAAAGACTGA 0.368000 24 15 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44873215 44873215 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:44873215G>A ENST00000395794.2 - 4 448 c.405C>T c.(403-405)ccC>ccT p.P135P CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CCCCAGGAGAGGGCCAGCTCC 0.562000 8 15 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172579020 172579020 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:172579020C>T ENST00000367723.3 + 23 3966 c.3842C>T c.(3841-3843)cCc>cTc p.P1281L SUCO_ENST00000263688.3_Missense_Mutation_p.P1129L NM_016227.2 NP_057311.2 SUN domain containing ossification factor CCATTGCACCCCATAGCCAAT 0.373000 22 67 0 0 1 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899650 128899650 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:128899650C>T ENST00000435159.2 + 2 459 c.459C>T c.(457-459)atC>atT p.I153I NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 153 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 TTTTCCACATCATGGGCAGAG 0.557000 6 10 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10473044 10473044 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:10473044G>A ENST00000525621.1 - 11 2046 c.1565C>T c.(1564-1566)tCc>tTc p.S522F TYK2_ENST00000529370.1_Missense_Mutation_p.S522F|TYK2_ENST00000524462.1_Missense_Mutation_p.S337F|TYK2_ENST00000264818.6_Missense_Mutation_p.S522F NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 522 SH2; atypical. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCTGGGGAAGGACCGGCCCCA 0.662000 11 23 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94140254 94140254 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:94140254G>A ENST00000370244.1 - 4 521 c.233C>T c.(232-234)tCc>tTc p.S78F BCAR3_ENST00000370243.1_Missense_Mutation_p.S78F|BCAR3_ENST00000260502.6_Missense_Mutation_p.S78F NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 78 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CTGCCGTGGGGATTTGGAGTG 0.552000 23 3 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24873931 24873931 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:24873931G>A ENST00000259698.4 - 3 373 c.198C>T c.(196-198)ccC>ccT p.P66P FAM65B_ENST00000540914.1_Silent_p.P66P|FAM65B_ENST00000538035.1_Silent_p.P95P|FAM65B_ENST00000378023.4_Silent_p.P66P|FAM65B_ENST00000510784.2_Silent_p.P100P NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 66 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GAGGCTCTTTGGGGGGATTGT 0.428000 52 107 0 0 1 0 0 AC008268.2 0 broad.mit.edu 37 2 96458262 96458262 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:96458262C>T ENST00000471661.1 + 0 280 CTTTGTGGGTCGCTGTTGCCA 0.607000 16 28 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272240 158272240 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:158272240T>C ENST00000264192.3 - 8 1150 c.1029A>G c.(1027-1029)aaA>aaG p.K343K CYTIP_ENST00000540637.1_Silent_p.K237K NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 343 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CAGGGATAAATTTCAAGAGTT 0.473000 36 27 0 0 1 0 0 ACP1 52 broad.mit.edu 37 2 272154 272154 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:272154C>T ENST00000407983.3 + 3 300 c.235C>T c.(235-237)Ccg>Tcg p.P79S ACP1_ENST00000439645.2_Intron|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272065.5_Intron|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000405233.1_Intron NM_001040649.2 NP_001035739.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 79 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) CCGGCAGGTACCGTCCTTGGA 0.577000 20 38 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175859 51175859 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:51175859C>T ENST00000251020.4 - 2 307 c.274G>A c.(274-276)Gat>Aat p.D92N SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 92 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCAGGATTATCAGGAGGGGGG 0.443000 66 77 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109438085 109438085 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:109438085G>A ENST00000356711.2 + 5 670 c.544G>A c.(544-546)Gaa>Aaa p.E182K MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Missense_Mutation_p.E182K|MYO16_ENST00000357550.2_Missense_Mutation_p.E182K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 182 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTATCTGGATGAAAATGGTAG 0.373000 29 61 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37028483 37028483 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:37028483G>A ENST00000379242.3 + 13 1400 c.1098G>A c.(1096-1098)acG>acA p.T366T VIT_ENST00000379241.3_Silent_p.T329T|VIT_ENST00000401530.1_Silent_p.T330T|VIT_ENST00000389975.3_Silent_p.T351T|VIT_ENST00000497382.1_Silent_p.T20T|VIT_ENST00000404084.1_Silent_p.T303T NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 351 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) AGACACACACGAATTCTCGAG 0.393000 115 92 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133393301 133393301 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:133393301G>A ENST00000204726.3 - 3 789 c.231C>T c.(229-231)gaC>gaT p.D77D GOLGA3_ENST00000456883.2_Silent_p.D77D|GOLGA3_ENST00000450791.2_Silent_p.D77D|GOLGA3_ENST00000537452.1_Silent_p.D77D|GOLGA3_ENST00000545875.1_Silent_p.D77D NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 77 Pro-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) ACGACGGAGGGTCTGGGAAGG 0.612000 23 34 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199026 155199026 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:155199026G>A ENST00000460012.1 - 23 5056 c.4699C>T c.(4699-4701)Cca>Tca p.P1567S PLCH1_ENST00000340059.7_Missense_Mutation_p.P1605S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1567S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1567S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1605 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGGGGTTTGGAACTTTCTGC 0.547000 67 61 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83251022 83251022 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:83251022G>A ENST00000566620.1 + 5 846 c.556G>A c.(556-558)Gga>Aga p.G186R CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.G233R|CDH13_ENST00000428848.3_Missense_Mutation_p.G147R NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 186 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AGAGCCTAAAGGAATTTTCAG 0.473000 44 37 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137901 56137901 + Missense_Mutation SNP G G A rs11552146 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:56137901G>A ENST00000319441.4 + 4 720 c.556G>A c.(556-558)Gat>Aat p.D186N PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.D54N NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 186 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGCAGTGGGCGATGGGGAGTT 0.502000 17 26 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13670698 13670698 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:13670698C>T ENST00000404922.3 + 13 2867 c.2748C>T c.(2746-2748)tgC>tgT p.C916C FBLN2_ENST00000492059.1_Silent_p.C916C|FBLN2_ENST00000295760.7_Silent_p.C869C|FBLN2_ENST00000535798.1_Silent_p.C895C NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 912 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) TGCACCGCTGCGGTGAGGGCC 0.647000 14 33 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29904717 29904717 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:29904717C>T ENST00000256062.5 - 5 969 c.496G>A c.(496-498)Ggg>Agg p.G166R TMTC1_ENST00000552618.1_Missense_Mutation_p.G274R|TMTC1_ENST00000539277.1_Missense_Mutation_p.G274R|TMTC1_ENST00000381224.2_Missense_Mutation_p.G166R|TMTC1_ENST00000551659.1_Missense_Mutation_p.G274R NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 274 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGCTGCTTCCCATTCTCCCGG 0.647000 12 9 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717286 142717286 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:142717286C>T ENST00000381779.4 - 2 1864 c.1639G>A c.(1639-1641)Gag>Aag p.E547K SLITRK4_ENST00000356928.1_Missense_Mutation_p.E547K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E547K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 547 LRRCT 2. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTCAACTTCTCCACCCACAGC 0.458000 65 15 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040504 103040504 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:103040504C>T ENST00000264260.2 + 4 893 c.304C>T c.(304-306)Cct>Tct p.P102S IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 102 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GAAAAGCTATCCTCACATCAT 0.428000 21 36 0 0 1 0 0 PDHB 5162 broad.mit.edu 37 3 58417666 58417666 + Nonsense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:58417666C>A ENST00000302746.6 - 3 184 c.142G>T c.(142-144)Gaa>Taa p.E48* PDHB_ENST00000485460.1_Nonsense_Mutation_p.E48*|PDHB_ENST00000474765.1_Nonsense_Mutation_p.E30* NM_000925.3|NM_001173468.1 NP_000916.2|NP_001166939.1 P11177 ODPB_HUMAN pyruvate dehydrogenase (lipoamide) beta 48 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187) NADH(DB00157)|Pyruvic acid(DB00119) TCATCTCTTTCCAGCTCCTCA 0.388000 23 22 3.28513e-13 3.32577e-13 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48608750 48608750 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:48608750C>T ENST00000323776.5 + 19 3078 c.2916C>T c.(2914-2916)ccC>ccT p.P972P MYCBPAP_ENST00000436259.2_3'UTR NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 935 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) AGCTCAGCCCCATAAAGAATG 0.522000 17 21 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126075832 126075832 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:126075832G>A ENST00000318410.7 - 11 1689 c.1340C>T c.(1339-1341)tCg>tTg p.S447L KIAA0196_ENST00000517845.1_Missense_Mutation_p.S299L NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 447 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CATCCGCTCCGAACCCTCTTT 0.388000 50 31 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211459282 211459282 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:211459282C>T ENST00000233072.5 + 12 1411 c.1215C>T c.(1213-1215)acC>acT p.T405T CPS1_ENST00000430249.2_Silent_p.T411T|CPS1_ENST00000451903.2_5'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 405 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAGCTACCACCATTACATCAG 0.378000 17 27 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5922207 5922207 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:5922207C>T ENST00000242104.5 + 2 237 c.145C>T c.(145-147)Cgg>Tgg p.R49W OCM_ENST00000416608.1_Missense_Mutation_p.R49W NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin 49 EF-hand 1. calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) GGATGTTTTCCGGTTCATAGA 0.493000 12 75 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155156362 155156362 + Missense_Mutation SNP C C T rs143523763 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:155156362C>T ENST00000357232.3 - 25 8076 c.8077G>A c.(8077-8079)Gaa>Aaa p.E2693K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2693 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACATCAGTTTCCCCAGATAGG 0.547000 25 42 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111420398 111420398 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:111420398C>T ENST00000375614.2 + 3 775 c.439C>T c.(439-441)Cat>Tat p.H147Y LAYN_ENST00000525126.1_Missense_Mutation_p.H155Y|LAYN_ENST00000436913.2_Intron|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000533265.1_Missense_Mutation_p.H147Y|LAYN_ENST00000375615.3_Missense_Mutation_p.H155Y NM_178834.4 NP_849156.1 Q6UX15 LAYN_HUMAN layilin 155 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GGTCATGTACCATCAGCCATC 0.532000 37 8 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242021733 242021733 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:242021733G>A ENST00000310397.8 + 29 4075 c.4075G>A c.(4075-4077)Gag>Aag p.E1359K SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 1359 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GCTGTTCTCCGAGACAAAGGC 0.582000 64 159 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100105279 100105279 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:100105279T>A ENST00000372966.3 - 9 1199 c.994A>T c.(994-996)Atc>Ttc p.I332F NOX1_ENST00000372960.4_Missense_Mutation_p.I295F|NOX1_ENST00000217885.5_Missense_Mutation_p.I332F|NOX1_ENST00000372964.1_Intron NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 332 FAD-binding FR-type. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 AGGAGAGAGATTGAGGGGCAA 0.458000 12 5 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43967920 43967920 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:43967920G>A ENST00000244333.3 - 3 301 c.211_splice c.e3-1 p.I71_splice NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 71 UPAR/Ly6 1. anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ATTGTCCGTGGACTAGGGAGA 0.642000 24 12 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800608 70800608 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:70800608C>T ENST00000333538.5 + 2 945 c.311C>T c.(310-312)tCc>tTc p.S104F WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 104 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCTACTCTTTCCCCGGCTGAA 0.463000 53 14 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132439841 132439841 + Nonsense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:132439841C>A ENST00000370828.3 - 6 1638 c.1114G>T c.(1114-1116)Gaa>Taa p.E372* GPC4_ENST00000535467.1_Nonsense_Mutation_p.E302* NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 372 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.E372K(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GTTGGGCGTTCCTCGGGGTGA 0.552000 130 24 3.13773e-49 3.20297e-49 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3229544 3229544 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:3229544G>A ENST00000217939.6 - 7 6854 c.6700C>T c.(6700-6702)Ctc>Ttc p.L2234F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2234 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCACTTTGAGCACCACGTAG 0.512000 33 4 0 0 1 0 0 MYL3 4634 broad.mit.edu 37 3 46901047 46901047 + Silent SNP G G A rs112992334 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:46901047G>A ENST00000395869.1 - 4 450 c.399C>T c.(397-399)ttC>ttT p.F133F MYL3_ENST00000292327.4_Silent_p.F133F P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 133 EF-hand 2. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) GCCCCTCCACGAAGTCCTCAT 0.567000 56 90 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10084991 10084991 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:10084991G>A ENST00000264828.3 - 46 3521 c.3436C>T c.(3436-3438)Cct>Tct p.P1146S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1146 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGTCCAGGAGGGCCAATCACC 0.627000 11 56 0 0 1 0 0 DLEU7 220107 broad.mit.edu 37 13 51417402 51417402 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:51417402C>T ENST00000400393.3 - 1 673 c.381G>A c.(379-381)tcG>tcA p.S127S DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000504404.1_Silent_p.S127S NM_198989.2 NP_945340.2 Q6UYE1 LEU7_HUMAN deleted in lymphocytic leukemia, 7 127 Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.25e-08) GCTCCGAAGTCGAGTCCACCA 0.716000 14 22 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134942990 134942990 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:134942990C>T ENST00000607359.1 + 16 3815 c.3815C>T c.(3814-3816)cCc>cTc p.P1272L GPR123_ENST00000392606.2_Missense_Mutation_p.P456L|GPR123_ENST00000392607.3_Missense_Mutation_p.P553L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 553 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGAACGGGACCCTGGAAAAAC 0.607000 7 17 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209880108 209880108 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:209880108A>C ENST00000367028.2 + 4 443 c.274A>C c.(274-276)Acc>Ccc p.T92P RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.T92P|HSD11B1_ENST00000261465.1_Missense_Mutation_p.T92P NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 92 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) CATTGCTGGCACCATGGAAGA 0.512000 108 158 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6013459 6013459 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:6013459G>A ENST00000259569.5 - 1 2159 c.2149C>T c.(2149-2151)Cct>Tct p.P717S NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 717 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTCAGTAAAGGAACCATCAGC 0.423000 72 7 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542773 14542773 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:14542773C>T ENST00000358970.5 - 1 372 c.373G>A c.(373-375)Gac>Aac p.D125N POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 125 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGGCGCTGTCGTCGTAGTCT 0.607000 34 69 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86506257 86506257 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:86506257G>A ENST00000297814.2 - 6 1905 c.1762C>T c.(1762-1764)Cat>Tat p.H588Y KIF27_ENST00000334204.2_Missense_Mutation_p.H588Y|KIF27_ENST00000413982.1_Missense_Mutation_p.H588Y NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 588 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TGCCCCAAATGAGTATCAAAT 0.373000 48 11 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47685067 47685067 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:47685067G>A ENST00000283303.2 + 8 2272 c.2014G>A c.(2014-2016)Ggg>Agg p.G672R GPR115_ENST00000371220.1_Missense_Mutation_p.G729R|GPR115_ENST00000327753.3_Missense_Mutation_p.G672R NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 672 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TTCACTGAAGGGGAAATCGAG 0.468000 68 185 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193180586 193180586 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:193180586C>T ENST00000342695.4 - 13 1810 c.1488G>A c.(1486-1488)ttG>ttA p.L496L ATP13A4_ENST00000295548.3_Silent_p.L496L|ATP13A4_ENST00000392443.3_Silent_p.L477L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 496 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCCAGAGGTCCAAGCCGTCCC 0.478000 18 51 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942794 11942794 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:11942794C>T ENST00000304060.5 + 4 967 c.803C>T c.(802-804)cCc>cTc p.P268L NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTTCATAGTCCCAGATCCTAT 0.393000 26 15 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33409463 33409463 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:33409463C>T ENST00000418600.2 + 13 2322 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P741S|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P682S NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 741 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAGTGAGCGGCCCCGGCCTCA 0.652000 7 90 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051295 17051295 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:17051295C>T ENST00000418129.2 + 2 544 c.79C>T c.(79-81)Cgc>Tgc p.R27C PLCL2_ENST00000396755.2_Missense_Mutation_p.R27C|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.R27C NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 153 Gly-rich. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CAAAAAGGTTCGCTCCAACTC 0.418000 22 11 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541467 28541467 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:28541467G>A ENST00000452236.2 - 4 2816 c.2199C>T c.(2197-2199)ttC>ttT p.F733F NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 733 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.F733F(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 atttccgagtgaaactagcat 0.338000 35 29 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30955419 30955419 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:30955419C>T ENST00000295055.8 - 20 1988 c.1812G>A c.(1810-1812)ggG>ggA p.G604G CAPN13_ENST00000534090.2_Silent_p.G604G NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 604 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGATGAAGATCCCTCTGAGGA 0.617000 10 15 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71129366 71129366 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:71129366C>T ENST00000448642.2 + 12 1355 c.966C>T c.(964-966)aaC>aaT p.N322N HK1_ENST00000298649.3_Silent_p.N286N|HK1_ENST00000359426.6_Silent_p.N287N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.N291N|HK1_ENST00000360289.2_Silent_p.N275N P19367 HXK1_HUMAN hexokinase 1 287 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GATCCCTCAACCCTGGAAAAC 0.463000 9 15 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102517984 102517984 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:102517984C>T ENST00000393772.2 - 16 1991 c.1565G>A c.(1564-1566)gGa>gAa p.G522E FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.G522E|FBXL13_ENST00000436908.1_Missense_Mutation_p.G522E|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.G522E|FBXL13_ENST00000379305.3_Missense_Mutation_p.G522E|FBXL13_ENST00000379308.3_Missense_Mutation_p.G522E Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 522 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ATATCCAATTCCTTGGGCAGT 0.318000 36 10 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14412282 14412282 + Missense_Mutation SNP C C G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:14412282C>G ENST00000382080.1 - 2 908 c.193G>C c.(193-195)Gcc>Ccc p.A65P SGCZ_ENST00000421524.2_Missense_Mutation_p.A52P NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 52 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATTGTCATGGCTAAGTTAACT 0.378000 50 47 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74934093 74934093 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:74934093C>T ENST00000569840.2 + 13 2026 c.1452C>T c.(1450-1452)atC>atT p.I484I MGAT5B_ENST00000301618.4_Silent_p.I482I|MGAT5B_ENST00000428789.2_Silent_p.I493I NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 484 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCTGGGCATCCTGAACAAAT 0.552000 20 39 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138529138 138529138 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:138529138G>A ENST00000440172.1 - 18 5424 c.5376C>T c.(5374-5376)gcC>gcT p.A1792A KIAA1549_ENST00000422774.1_Silent_p.A1792A|KIAA1549_ENST00000242365.4_Silent_p.A1742A NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1792 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CAGCAAATGGGGCTTCGGCGG 0.617000 O BRAF pilocytic astrocytoma 23 10 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11572549 11572549 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:11572549C>T ENST00000262442.3 + 16 2968 c.2900C>T c.(2899-2901)tCc>tTc p.S967F DNAH9_ENST00000454412.2_Missense_Mutation_p.S967F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 967 Stem (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) CCACGGCTTTCCCCACAAAAT 0.537000 42 52 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38899616 38899616 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:38899616C>T ENST00000359357.3 + 74 10907 c.10653C>T c.(10651-10653)atC>atT p.I3551I RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Silent_p.I3515I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.I3768I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AATGTGATATCATGGATACAT 0.338000 57 276 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452553 138452553 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:138452553G>A ENST00000344876.4 - 1 1076 c.690C>T c.(688-690)tcC>tcT p.S230S PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S230S|PCDH18_ENST00000507846.1_Silent_p.S10S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 230 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTTTTAGTATGGATGAGCCAG 0.453000 19 39 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140647 56140647 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:56140647C>T ENST00000319441.4 + 10 1820 c.1656C>T c.(1654-1656)ctC>ctT p.L552L PCK1_ENST00000543666.1_Silent_p.L235L NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 552 KL -> NV (in Ref. 1; AAA60084). gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCACCAAGCTCACGCCCATAG 0.542000 18 41 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22167174 22167174 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:22167174C>T ENST00000389397.4 + 34 3674 c.812C>T c.(811-813)tCc>tTc p.S271F VWA3A_ENST00000389398.5_Missense_Mutation_p.S1169F|VWA3A_ENST00000563755.1_Missense_Mutation_p.S271F A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1169 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCCACCAGATCCCAACTCCAG 0.532000 38 27 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196733596 196733596 + Missense_Mutation SNP C C T rs148616625 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:196733596C>T ENST00000296350.5 - 14 1875 c.1762G>A c.(1762-1764)Gag>Aag p.E588K NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 588 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCCCAGGGCTCGGAATTGTGG 0.607000 14 11 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32576120 32576120 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:32576120G>A ENST00000319778.6 - 7 1360 c.1058C>T c.(1057-1059)cCc>cTc p.P353L EPC1_ENST00000263062.8_Missense_Mutation_p.P353L|EPC1_ENST00000375110.2_Missense_Mutation_p.P303L NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 353 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) CGTCTGTTGGGGAGTAGCAGC 0.473000 31 37 0 0 1 0 0 NAA30 122830 broad.mit.edu 37 14 57863570 57863570 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:57863570C>T ENST00000556492.1 + 3 1026 c.872C>T c.(871-873)tCc>tTc p.S291F NAA30_ENST00000554703.1_Missense_Mutation_p.S33F|NAA30_ENST00000555166.1_Missense_Mutation_p.S33F NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 291 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 GCCGTGGATTCCAAATACAGG 0.373000 22 21 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10211599 10211599 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:10211599C>T ENST00000377157.3 + 20 3232 c.2171C>T c.(2170-2172)tCc>tTc p.S724F UBE4B_ENST00000253251.8_Missense_Mutation_p.S840F|UBE4B_ENST00000343090.6_Missense_Mutation_p.S969F NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 969 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTGGTACCTTCCCTGATGAAG 0.458000 40 3 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36156123 36156123 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:36156123C>T ENST00000378660.1 + 9 1282 c.1094C>T c.(1093-1095)tCa>tTa p.S365L CHDC2_ENST00000313548.4_Missense_Mutation_p.S365L calponin homology domain containing 2 AAAGACCTTTCAGATGGTCTT 0.318000 16 0 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031447 79031447 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:79031447G>A ENST00000446378.2 + 2 6890 c.6859G>A c.(6859-6861)Gaa>Aaa p.E2287K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2287 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGTGTCTAGGGAAGATTATGG 0.338000 25 53 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14014026 14014026 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:14014026G>A ENST00000311895.7 + 1 13 c.4G>A c.(4-6)Gag>Aag p.E2K ERCC4_ENST00000575156.1_Missense_Mutation_p.E2K NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 2 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AGCTTCCATGGAGTCAGGGCA 0.632000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 25 48 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189872240 189872240 + Silent SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:189872240A>C ENST00000304636.3 + 45 3440 c.3270A>C c.(3268-3270)ccA>ccC p.P1090P COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1090 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTCAAGGCCCACGTGGTGACA 0.393000 4 18 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548411 52548411 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:52548411G>A ENST00000242839.4 - 2 1101 c.945C>T c.(943-945)atC>atT p.I315I ATP7B_ENST00000448424.2_Silent_p.I315I|ATP7B_ENST00000542656.1_Silent_p.I283I|ATP7B_ENST00000418097.2_Silent_p.I315I|ATP7B_ENST00000344297.5_Silent_p.I315I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.I315I|ATP7B_ENST00000400366.3_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 315 HMA 3. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GAAGTGCCTCGATAGCCCTCT 0.507000 Wilson disease 65 173 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73064757 73064757 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:73064757G>A ENST00000429829.1 - 0 7831 NR_001564.2 AGAAGGGAAAGGAAGATTGAG 0.507000 42 10 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35014173 35014173 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:35014173G>A ENST00000231420.6 - 10 1215 c.1015C>T c.(1015-1017)Cac>Tac p.H339Y NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 339 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AGGACATCGTGGGTTTGGAAG 0.502000 27 28 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757519 18757519 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:18757519A>T ENST00000304081.4 - 8 1360 c.1260T>A c.(1258-1260)ttT>ttA p.F420L NT5C1B_ENST00000359846.2_Missense_Mutation_p.F480L|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.F480L|NT5C1B_ENST00000600945.1_Missense_Mutation_p.F480L NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCTCCTTGGTAAAATGTTCAG 0.423000 26 22 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73279479 73279479 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:73279479C>T ENST00000320531.2 + 2 265 c.229C>T c.(229-231)Ctc>Ttc p.L77F NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 77 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GGGCCAGGCTCTCTGGGCTGG 0.692000 51 30 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198968577 198968577 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:198968577A>G ENST00000428675.1 + 5 3420 c.3022A>G c.(3022-3024)Aat>Gat p.N1008D PLCL1_ENST00000437704.2_Missense_Mutation_p.N910D NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 1008 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AGAACTTCATAATTTGGGGGC 0.353000 5 12 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32026070 32026070 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32026070C>T ENST00000375244.3 - 22 7791 c.7590G>A c.(7588-7590)gtG>gtA p.V2530V TNXB_ENST00000375247.2_Silent_p.V2530V P22105 TENX_HUMAN tenascin XB 2590 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGATCCTGTCACTGTCAGCT 0.672000 252 649 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032504 65032504 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:65032504C>T ENST00000394156.3 - 4 937 c.484G>A c.(484-486)Gag>Aag p.E162K CDH11_ENST00000268603.4_Missense_Mutation_p.E162K|CDH11_ENST00000566827.1_Missense_Mutation_p.E36K P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 162 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGATAGGTCTCGTGCAGGAAC 0.597000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 40 68 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4517588 4517588 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:4517588C>T ENST00000301286.3 - 1 128 c.129G>A c.(127-129)gaG>gaA p.E43E NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 43 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GTTGGGCAGCCTCGGCAGCAG 0.706000 14 13 0 0 1 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5685010 5685010 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:5685010G>A ENST00000581521.1 + 5 559 c.84G>A c.(82-84)caG>caA p.Q28Q HSD11B1L_ENST00000342970.2_5'UTR|HSD11B1L_ENST00000423665.2_Silent_p.Q28Q|RPL36_ENST00000577222.1_5'UTR|HSD11B1L_ENST00000422535.2_Silent_p.Q28Q|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000339423.2_Silent_p.Q28Q|HSD11B1L_ENST00000301382.4_Intron|HSD11B1L_ENST00000583928.1_Intron|HSD11B1L_ENST00000577701.1_3'UTR|HSD11B1L_ENST00000411793.2_5'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_Silent_p.Q28Q|HSD11B1L_ENST00000581893.1_5'UTR Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 28 extracellular region binding|oxidoreductase activity CCAGCCTCCAGGGAGCGCGAG 0.672000 3 10 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64686287 64686287 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:64686287C>T ENST00000261884.3 + 2 304 c.244C>T c.(244-246)Cct>Tct p.P82S TRIP4_ENST00000559565.1_3'UTR NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 82 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 GATTTCGGATCCTTTGCAGCA 0.333000 8 15 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2787242 2787242 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:2787242G>A ENST00000397461.1 + 5 603 c.219G>A c.(217-219)atG>atA p.M73I CNTN4_ENST00000427331.1_Missense_Mutation_p.M73I|CNTN4_ENST00000418658.1_Missense_Mutation_p.M73I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 73 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACACTGGTATGGATTTCCGCT 0.383000 55 47 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46020577 46020577 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:46020577T>C ENST00000380102.2 + 1 81 c.56T>C c.(55-57)gTc>gCc p.V19A TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 19 keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GGCAGCCGCGTCTGCCTTCCT 0.647000 18 16 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278172 7278172 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:7278172T>A ENST00000436587.2 + 3 730 c.507T>A c.(505-507)gaT>gaA p.D169E C1GALT1_ENST00000402468.3_Missense_Mutation_p.D169E|C1GALT1_ENST00000223122.2_Missense_Mutation_p.D169E NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 169 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TGAAAGCAGATGATGACACGT 0.353000 7 36 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13428095 13428095 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:13428095C>T ENST00000360228.5 - 11 1385 c.1386G>A c.(1384-1386)ctG>ctA p.L462L CACNA1A_ENST00000573710.2_Silent_p.L463L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 463 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCGAGTTCTCCAGCTTGGCAC 0.493000 10 13 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 1998937 1998937 + Silent SNP C C T rs140335541 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:1998937C>T ENST00000262113.4 + 2 198 c.57C>T c.(55-57)tcC>tcT p.S19S MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 19 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCGACCAGTCCTACCGTAATA 0.493000 15 36 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26614222 26614222 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:26614222C>T ENST00000380581.2 - 2 1393 c.958G>A c.(958-960)Gaa>Aaa p.E320K ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_3'UTR P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TGGTGGGTTTCATGCTCCCCT 0.517000 7 19 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496721 20496721 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:20496721C>T ENST00000555186.1 + 0 774 NR_038836.1 AATGTACCTTCTTTCACTCTG 0.403000 4 32 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056762 120056762 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:120056762C>T ENST00000235547.6 + 4 761 c.622C>T c.(622-624)Ctg>Ttg p.L208L HSD3B1_ENST00000369413.3_Silent_p.L206L|HSD3B1_ENST00000528909.1_Silent_p.L206L NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 206 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) AAACGAGGCCCTGAACAACAA 0.502000 51 7 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924849 188924849 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:188924849C>T ENST00000326866.4 + 4 1296 c.888C>T c.(886-888)atC>atT p.I296I ZFP42_ENST00000509524.1_Silent_p.I296I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 296 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AAGCCCACATCCTAACGCATG 0.468000 14 33 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128864276 128864276 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:128864276G>A ENST00000274487.4 + 6 1361 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 406 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTGGCAACATGAAGAATTTGG 0.363000 19 21 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502521 220502521 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:220502521C>T ENST00000358055.3 + 17 3266 c.2754C>T c.(2752-2754)ttC>ttT p.F918F SLC4A3_ENST00000273063.6_Silent_p.F945F|SLC4A3_ENST00000373760.2_Silent_p.F918F|SLC4A3_ENST00000317151.3_Silent_p.F918F|SLC4A3_ENST00000373762.3_Silent_p.F945F P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 918 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAGCCGCTTCCTGGGGGGCA 0.622000 28 20 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34100926 34100926 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:34100926G>A ENST00000373381.4 - 31 5150 c.4974C>T c.(4972-4974)ccC>ccT p.P1658P CSMD2_ENST00000373380.1_Silent_p.P531P|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1618 CUB 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCCCCACAGGGGGCTGAAA 0.552000 OREG0013349 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 3 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368676 20368676 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:20368676C>T ENST00000593655.1 - 0 199 cttgttttttcctttatttac 0.433000 8 18 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70331331 70331331 + Missense_Mutation SNP C C G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:70331331C>G ENST00000374202.2 - 1 150 c.59G>C c.(58-60)gGa>gCa p.G20A NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 20 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) CAGCCCCACTCCCAGCAGGGG 0.552000 Severe Combined Immunodeficiency, X-linked 22 4 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004731 248004731 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:248004731G>A ENST00000355784.2 - 1 523 c.468C>T c.(466-468)ggC>ggT p.G156G NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGGCAGAAAGCCTGTGCTGA 0.577000 65 79 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88260223 88260223 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:88260223G>A ENST00000298767.5 - 3 1249 c.777C>T c.(775-777)ccC>ccT p.P259P NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 259 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TCTCCAAAAGGGGATCACTAT 0.358000 26 38 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1525051 1525051 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:1525051G>A ENST00000389470.4 - 24 3516 c.3517C>T c.(3517-3519)Ccc>Tcc p.P1173S INTS1_ENST00000404767.3_Missense_Mutation_p.P1011S Q8N201 INT1_HUMAN integrator complex subunit 1 1011 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCATGGGGGGCTCCTTCTCC 0.657000 26 7 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073275 34073275 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:34073275C>T ENST00000254466.6 - 6 1268 c.1241G>A c.(1240-1242)gGa>gAa p.G414E GAS2L2_ENST00000587565.1_Missense_Mutation_p.G398E NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 414 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGAATCCTTCCCCTGGGGAG 0.597000 83 122 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69633640 69633640 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:69633640G>A ENST00000337103.4 + 9 2631 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K C8orf34_ENST00000518698.1_Missense_Mutation_p.E458K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E116K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E372K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 372 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGAGGGTGACGAATTTGAGAA 0.279000 9 19 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88508884 88508884 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:88508884G>A ENST00000552810.1 - 19 2243 c.1900C>T c.(1900-1902)Cag>Tag p.Q634* CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.Q636* NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 634 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTATTCTGAAATTTGGCT 0.289000 3 5 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56587044 56587044 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:56587044G>A ENST00000336078.4 + 4 2301 c.1525G>A c.(1525-1527)Gca>Aca p.A509T ZNF532_ENST00000591083.1_Missense_Mutation_p.A509T|ZNF532_ENST00000591230.1_Missense_Mutation_p.A509T|ZNF532_ENST00000589288.1_Missense_Mutation_p.A509T|ZNF532_ENST00000591808.1_Missense_Mutation_p.A509T NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CGTGGTGCCGGCATCCAGCCT 0.582000 3 30 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15761167 15761167 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:15761167C>T ENST00000396355.1 + 4 934 c.108C>T c.(106-108)ctC>ctT p.L36L NDE1_ENST00000396354.1_Silent_p.L36L|NDE1_ENST00000342673.5_Silent_p.L36L|NDE1_ENST00000396353.2_Silent_p.L36L NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 36 Self-association (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 AAGAGGAACTCCGAGAATTCC 0.448000 30 42 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88018473 88018473 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:88018473C>T ENST00000504921.2 - 10 2042 c.1370G>A c.(1369-1371)aGg>aAg p.R457K MEF2C_ENST00000437473.2_Missense_Mutation_p.R457K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447K|MEF2C_ENST00000508569.1_Missense_Mutation_p.R417K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000340208.5_Missense_Mutation_p.R467K|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401K|MEF2C_ENST00000514015.1_Missense_Mutation_p.R425K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449K|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457K Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 457 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GGGACTTTCCCTTTCGTCCGG 0.493000 HNSCC(66;0.2) 77 115 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705266 41705266 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:41705266C>T ENST00000379485.1 - 1 1616 c.1382G>A c.(1381-1383)aGa>aAa p.R461K KBTBD6_ENST00000499385.2_Missense_Mutation_p.R395K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 461 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCACTGGTTTCTCTTAACATT 0.438000 25 155 0 0 1 0 0 ALMS1P 200420 broad.mit.edu 37 2 73899550 73899550 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:73899550G>A ENST00000450720.1 + 0 422 NR_003683.2 AGAAAAACATGAAGAGAAAAT 0.418000 5 11 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335762 127335762 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:127335762C>T ENST00000265056.7 + 10 1818 c.1574C>T c.(1573-1575)cCt>cTt p.P525L NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 525 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TGCGGAGACCCTGGCACAGCG 0.597000 52 91 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14521959 14521959 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:14521959G>A ENST00000242776.4 - 5 556 c.455C>T c.(454-456)tCc>tTc p.S152F DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.S152F NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 152 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 CTTCTTGATGGAGAGACCACC 0.597000 58 52 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123130398 123130398 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:123130398C>T ENST00000264501.4 + 18 2210 c.1837C>T c.(1837-1839)Cca>Tca p.P613S KIAA1109_ENST00000455637.1_Missense_Mutation_p.P613S|KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P613S Q2LD37 K1109_HUMAN KIAA1109 613 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAATTGCCATCCAAATAAGAT 0.353000 11 8 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73625544 73625544 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:73625544C>T ENST00000317905.5 - 16 2118 c.1959G>A c.(1957-1959)aaG>aaA p.K653K RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.K626K NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 653 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTCCCACCCGCTTGGGTTTGA 0.622000 Other identified genes with known or suspected DNA repair function 22 26 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702363 43702363 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:43702363C>T ENST00000405312.3 - 3 732 c.495G>A c.(493-495)gtG>gtA p.V165V PSG4_ENST00000244295.9_Silent_p.V165V|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 165 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGGTTAAGATCACAGCCTCCA 0.547000 77 162 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167185017 167185017 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:167185017C>T ENST00000476257.1 - 4 602 c.304G>A c.(304-306)Gaa>Aaa p.E102K SERPINI2_ENST00000471111.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E102K O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 102 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AATGTAAATTCTTGTTTTTTC 0.328000 20 34 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058370 170058370 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:170058370G>A ENST00000263816.3 - 44 8505 c.8220C>T c.(8218-8220)acC>acT p.T2740T NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2740 LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCGGTGAGCAGGTGTGAAGTG 0.403000 18 31 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103433355 103433355 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:103433355G>A ENST00000331272.7 - 3 1050 c.432C>T c.(430-432)ttC>ttT p.F144F NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 144 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CATCTGGACGGAACTGGTAGG 0.483000 36 44 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2133790 2133790 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:2133790G>A ENST00000219476.3 + 33 4608 c.3978G>A c.(3976-3978)atG>atA p.M1326I TSC2_ENST00000568454.1_Missense_Mutation_p.M1270I|TSC2_ENST00000382538.6_Missense_Mutation_p.M1211I|TSC2_ENST00000439673.2_Missense_Mutation_p.M1223I|TSC2_ENST00000353929.4_Missense_Mutation_p.M1283I|TSC2_ENST00000350773.4_Missense_Mutation_p.M1303I|TSC2_ENST00000401874.2_Missense_Mutation_p.M1259I NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1326 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGCTAGGCATGGACAGGCGCA 0.672000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 23 0 0 1 0 0 TMEM251 26175 broad.mit.edu 37 14 93652850 93652850 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:93652850T>A ENST00000415050.2 + 2 719 c.344T>A c.(343-345)gTa>gAa p.V115E RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.V77E NM_001098621.1 NP_001092091.1 transmembrane protein 251 ATTTTTCTGGTACCTTACTTA 0.443000 25 29 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100874047 100874047 + Silent SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:100874047G>T ENST00000358544.2 + 58 11274 c.11163G>T c.(11161-11163)cgG>cgT p.R3721R VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3696R NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3721 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCCTGGCCCGGAACATGGACC 0.632000 6 12 1.26484e-09 1.27523e-09 1 1 0 CLEC3A 10143 broad.mit.edu 37 16 78064447 78064447 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:78064447C>T ENST00000299642.4 + 3 415 c.330C>T c.(328-330)atC>atT p.I110I RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.I101I|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 101 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 AAGGAGGAATCCTGGTTATCC 0.478000 45 32 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69020427 69020427 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:69020427C>T ENST00000288368.4 + 24 3076 c.2799C>T c.(2797-2799)ttC>ttT p.F933F NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 933 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCAGTGATTTCTGCCCTACCA 0.428000 24 18 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815107 152815107 + Silent SNP G G A rs143273384 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:152815107G>A ENST00000370186.1 + 9 1775 c.1449G>A c.(1447-1449)gaG>gaA p.E483E ATP2B3_ENST00000370181.2_Silent_p.E483E|ATP2B3_ENST00000393842.1_Silent_p.E483E|ATP2B3_ENST00000349466.2_Silent_p.E497E|ATP2B3_ENST00000359149.3_Silent_p.E497E|ATP2B3_ENST00000263519.4_Silent_p.E497E Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 497 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTACAAAGAGATTCCGGCCC 0.582000 34 3 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368846 27368846 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:27368846C>T ENST00000244576.4 + 3 1242 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CTTCGGTGACCGTTCAACCAT 0.423000 37 28 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154311726 154311726 + Silent SNP G G A rs3749672 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:154311726G>A ENST00000285873.7 - 4 669 c.594C>T c.(592-594)atC>atT p.I198I NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 198 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTATGGAGTGGATTTCATCAT 0.408000 43 46 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121602820 121602820 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:121602820G>A ENST00000275159.6 - 14 1477 c.1478C>T c.(1477-1479)cCt>cTt p.P493L TBC1D32_ENST00000398212.2_Missense_Mutation_p.P493L TBC1 domain family, member 32 CATACTTGCAGGAGAGTAATT 0.303000 36 4 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111164294 111164294 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:111164294G>A ENST00000360467.5 + 48 5201 c.4895G>A c.(4894-4896)gGa>gAa p.G1632E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1632 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) ACGGCGGCGGGAGACGAAGGC 0.632000 75 33 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160963826 160963826 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:160963826C>T ENST00000447678.1 - 35 5533 c.5413G>A c.(5413-5415)Gat>Aat p.D1805N LPA_ENST00000484276.1_5'UTR|LPA_ENST00000316300.5_Missense_Mutation_p.D1805N NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4313 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTCCCACAATCAAATGAAGAG 0.502000 50 6 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15532290 15532290 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:15532290G>A ENST00000578237.1 - 11 2189 c.1334C>T c.(1333-1335)aCc>aTc p.T445I TRIM16_ENST00000416464.2_Missense_Mutation_p.T315I|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.T445I|TRIM16_ENST00000577886.1_Missense_Mutation_p.T229I|TRIM16_ENST00000579219.1_3'UTR tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) GCCTTTGCAGGTCAGGCCAAC 0.572000 25 36 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166910622 166910622 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:166910622G>A ENST00000061240.2 + 2 906 c.259G>A c.(259-261)Gga>Aga p.G87R TLL1_ENST00000513213.1_Missense_Mutation_p.G87R|TLL1_ENST00000507499.1_Missense_Mutation_p.G87R NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 87 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAACCCCTTTGGAAACCTTGG 0.333000 33 45 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34235668 34235668 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:34235668G>A ENST00000587132.1 - 0 2359 ATAACTTTCAGACTGCACCAG 0.443000 16 21 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763404 77763404 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:77763404C>T ENST00000521891.2 + 10 4695 c.4247C>T c.(4246-4248)tCc>tTc p.S1416F ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1390F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1371F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1371F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1371 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGATACATTCCCAGTATCAT 0.463000 HNSCC(33;0.089) 11 29 0 0 1 0 0 PPP2R4 5524 broad.mit.edu 37 9 131891281 131891281 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:131891281C>T ENST00000337738.1 + 5 606 c.339C>T c.(337-339)gtC>gtT p.V113V PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000393370.2_Silent_p.V78V|PPP2R4_ENST00000357197.4_Silent_p.V49V|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000452489.2_Silent_p.V113V|PPP2R4_ENST00000358994.4_Silent_p.V78V|PPP2R4_ENST00000348141.5_Silent_p.V84V NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 113 V -> L (in Ref. 1; CAA51873, 2; CAA60163 and 3; CAB77601/CAB77602). ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) AGAAACTAGTCGCTCTTCTCA 0.547000 36 9 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102444279 102444279 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:102444279A>C ENST00000399004.2 - 2 227 c.133T>G c.(133-135)Ttc>Gtc p.F45V GIN1_ENST00000508629.1_Missense_Mutation_p.F45V NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 45 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TTACCTTTGAAGACAAATTTT 0.343000 22 16 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182402939 182402939 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:182402939C>T ENST00000410087.3 - 13 1671 c.1571G>A c.(1570-1572)gGa>gAa p.G524E CERKL_ENST00000409440.3_Missense_Mutation_p.G506E|CERKL_ENST00000374969.2_Missense_Mutation_p.G411E|CERKL_ENST00000374970.2_Missense_Mutation_p.G455E|CERKL_ENST00000339098.5_Missense_Mutation_p.G550E NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 550 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTCCATGCTTCCTCCATAAAG 0.289000 12 27 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899120 133899120 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:133899120C>T ENST00000220616.4 + 9 1543 c.1503C>T c.(1501-1503)ttC>ttT p.F501F TG_ENST00000377869.1_Silent_p.F501F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 501 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCAATTTTTCCAGCAACTTG 0.438000 27 63 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547742 63547742 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:63547742G>A ENST00000397968.2 + 12 2396 c.1970G>A c.(1969-1971)gGc>gAc p.G657D CDH7_ENST00000323011.3_Missense_Mutation_p.G657D NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 657 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GATGACGAGGGCGGGGGAGAG 0.483000 28 35 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21121119 21121119 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:21121119G>A ENST00000269228.5 - 16 2981 c.2427C>T c.(2425-2427)agC>agT p.S809S NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.S491S NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 809 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGGCCTGGACGCTTGTTCCAT 0.473000 24 32 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96650104 96650104 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:96650104G>A ENST00000222598.4 - 3 1287 c.814C>T c.(814-816)Ccg>Tcg p.P272S DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 272 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CCCGGCGGCGGCAGGTGGGAA 0.587000 43 20 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51456309 51456309 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:51456309G>A ENST00000335891.5 - 8 1920 c.1911C>T c.(1909-1911)ttC>ttT p.F637F Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1086 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TGGCTTCCCGGAACACTGAAA 0.483000 8 16 0 0 1 0 0 PSKH2 85481 broad.mit.edu 37 8 87076557 87076557 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:87076557G>A ENST00000276616.2 - 2 563 c.489C>T c.(487-489)atC>atT p.I163I PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 163 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CCATCTGGAGGATCCTGACGG 0.478000 49 32 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102067206 102067206 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:102067206G>A ENST00000549145.1 + 25 2733 c.2631_splice c.e25-1 p.G878_splice MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Splice_Site_p.G833_splice|MYBPC1_ENST00000553190.1_Splice_Site_p.G847_splice|MYBPC1_ENST00000441232.1_Splice_Site_p.G865_splice|MYBPC1_ENST00000551300.1_Splice_Site_p.G748_splice|MYBPC1_ENST00000361685.2_Splice_Site_p.G872_splice|MYBPC1_ENST00000360610.2_Splice_Site_p.G865_splice|MYBPC1_ENST00000550270.1_Splice_Site_p.G865_splice|MYBPC1_ENST00000547405.1_Splice_Site_p.G821_splice|MYBPC1_ENST00000452455.2_Splice_Site_p.G865_splice|MYBPC1_ENST00000545503.2_Splice_Site_p.G847_splice|MYBPC1_ENST00000361466.2_Splice_Site_p.G872_splice|MYBPC1_ENST00000392934.3_Splice_Site_p.G834_splice|MYBPC1_ENST00000541119.1_Splice_Site_p.G835_splice|MYBPC1_ENST00000536007.1_Splice_Site_p.G828_splice Q00872 MYPC1_HUMAN myosin binding protein C, slow type 865 Ig-like C2-type 6. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TCTTTTTAGGGAAAACCAAGA 0.358000 31 47 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3553521 3553521 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:3553521C>T ENST00000262919.5 + 12 2083 c.2015C>T c.(2014-2016)tCg>tTg p.S672L ATRN_ENST00000446916.2_Missense_Mutation_p.S672L NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 672 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding p.S672L(1) breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 AACACAGGGTCGTCTCAGTGT 0.448000 16 49 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37118320 37118320 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:37118320C>T ENST00000435416.1 + 3 3013 c.1518C>T c.(1516-1518)ctC>ctT p.L506L ZNF382_ENST00000423582.1_Silent_p.L458L|ZNF382_ENST00000439428.1_Silent_p.L506L|ZNF382_ENST00000292928.2_Silent_p.L507L Q96SR6 ZN382_HUMAN zinc finger protein 382 507 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AATCAAACCTCATTCGCCATC 0.428000 31 32 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582494 82582494 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:82582494G>A ENST00000423517.2 - 5 8112 c.7775C>T c.(7774-7776)cCa>cTa p.P2592L PCLO_ENST00000333891.8_Missense_Mutation_p.P2592L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2523 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGAATCTGTTGGAGTCCCTGG 0.448000 118 40 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15559193 15559193 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:15559193C>T ENST00000378076.3 - 30 3509 c.3156G>A c.(3154-3156)agG>agA p.R1052R NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 1052 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCAGCTGTTCCCTGTCGGTCA 0.443000 26 28 0 0 1 0 0 CD27 939 broad.mit.edu 37 12 6554278 6554278 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:6554278C>T ENST00000266557.3 + 1 246 c.17C>T c.(16-18)cCc>cTc p.P6L CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA NM_001242.4 NP_001233.1 P26842 CD27_HUMAN CD27 molecule 6 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 CGGCCACATCCCTGGTGGCTG 0.647000 8 8 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6596446 6596446 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:6596446C>T ENST00000433363.2 - 9 1425 c.1192G>A c.(1192-1194)Gat>Aat p.D398N SLC13A5_ENST00000573648.1_Missense_Mutation_p.D398N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.D381N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.D355N NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 398 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ACCTTCCAATCCAGCAGGGGA 0.517000 19 30 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183532329 183532329 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:183532329C>T ENST00000413720.1 - 12 1430 c.e12+1 NCF2_ENST00000367535.3_Splice_Site|NCF2_ENST00000367536.1_Splice_Site|NCF2_ENST00000418089.1_Splice_Site|NCF2_ENST00000469280.1_Splice_Site NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 ATTGCACTCACCACTGTGTTC 0.473000 46 48 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109332694 109332694 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:109332694C>T ENST00000299134.5 - 7 609 c.610G>A c.(610-612)Gga>Aga p.G204R NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 TTCCTGGTTCCCTGACAGCAC 0.557000 50 103 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41252455 41252455 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:41252455G>A ENST00000216218.3 - 1 571 c.90C>T c.(88-90)ttC>ttT p.F30F NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 30 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 ACTCCCTCAGGAAGCGCATTT 0.642000 50 39 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585775 178585775 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:178585775C>T ENST00000251582.7 - 6 1182 c.1081G>A c.(1081-1083)Gat>Aat p.D361N ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 361 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGCGTGATCGTGGTATTCA 0.607000 41 102 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014474 114014474 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:114014474C>T ENST00000481065.1 + 3 2960 c.345C>T c.(343-345)tcC>tcT p.S115S TIGIT_ENST00000383671.3_Silent_p.S48S|TIGIT_ENST00000486257.1_Silent_p.S48S Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 48 Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GTCACCTCTCCTCCACCACGG 0.517000 61 95 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10444004 10444004 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:10444004C>T ENST00000245503.5 - 11 1299 c.915G>A c.(913-915)ctG>ctA p.L305L MYH2_ENST00000532183.1_Silent_p.L305L|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.L305L NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 305 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L305L(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCGTGGTAATCAGAAGCATTT 0.378000 16 25 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141135848 141135848 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:141135848C>T ENST00000389484.3 - 68 11510 c.10539G>A c.(10537-10539)caG>caA p.Q3513Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3513 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTACATGTCTGTGGCTCTG 0.383000 TSP Lung(27;0.18) 26 24 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3746787 3746787 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:3746787G>A ENST00000541714.2 + 18 2697 c.2235G>A c.(2233-2235)ctG>ctA p.L745L TJP3_ENST00000589378.1_Silent_p.L754L|TJP3_ENST00000262968.9_Silent_p.L778L|TJP3_ENST00000587686.1_Silent_p.L764L|TJP3_ENST00000382008.3_Silent_p.L759L|TJP3_ENST00000539908.2_Silent_p.L709L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 759 Guanylate kinase-like. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCATCCCTCTGAATGGCACGA 0.642000 9 5 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 97007106 97007106 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:97007106G>A ENST00000329399.6 - 5 659 c.551C>T c.(550-552)cCt>cTt p.P184L PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 184 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GCTGCTTGGAGGCTGAGCATG 0.433000 22 42 0 0 1 0 0 CCK 885 broad.mit.edu 37 3 42299711 42299711 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:42299711C>T ENST00000396169.2 - 5 1132 c.227G>A c.(226-228)cGa>cAa p.R76Q CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 76 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity p.R76Q(1) central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GATGGACATTCGTCCAGAAGG 0.517000 46 45 0 0 1 0 0 ENAH 55740 broad.mit.edu 37 1 225718286 225718286 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:225718286G>A ENST00000366844.2 - 4 855 c.404C>T c.(403-405)cCa>cTa p.P135L ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.P135L|ENAH_ENST00000284563.6_Missense_Mutation_p.P154L NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 135 axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TTCTTGGGATGGGCCATTTTG 0.348000 96 92 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823664 47823664 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:47823664C>T ENST00000355085.3 + 2 652 c.630C>T c.(628-630)ggC>ggT p.G210G NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 210 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TGGTCCTGGGCTTCCTGTGGC 0.617000 51 110 0 0 1 0 0 SCARNA2 677766 broad.mit.edu 37 1 109643094 109643094 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:109643094C>T ENST00000458748.1 + 0 280 NR_003023.1 CAGCGAGGCCCCTTAGGCGGC 0.672000 12 0 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67791147 67791147 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:67791147C>T ENST00000422365.2 + 7 873 c.702C>T c.(700-702)ttC>ttT p.F234F MCMDC2_ENST00000396592.3_Silent_p.F234F|MCMDC2_ENST00000541540.1_Silent_p.F171F|MCMDC2_ENST00000313616.5_Silent_p.F234F|MCMDC2_ENST00000492775.1_Silent_p.F234F NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 234 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TTACAATTTTCCTAAGAGGTA 0.353000 8 34 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43109802 43109802 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:43109802C>T ENST00000230419.4 + 12 2123 c.1902C>T c.(1900-1902)ccC>ccT p.P634P PTK7_ENST00000481273.1_Silent_p.P642P|PTK7_ENST00000349241.2_Silent_p.P504P|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Silent_p.P594P NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 634 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TCCTGGACCCCACCAAGCTGG 0.667000 29 63 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49628347 49628347 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:49628347G>A ENST00000374189.1 + 6 781 c.600G>A c.(598-600)atG>atA p.M200I MAPK8_ENST00000374182.3_Missense_Mutation_p.M200I|MAPK8_ENST00000360332.3_Missense_Mutation_p.M200I|MAPK8_ENST00000395611.3_Missense_Mutation_p.M200I|MAPK8_ENST00000374174.1_Missense_Mutation_p.M200I P45983 MK08_HUMAN mitogen-activated protein kinase 8 200 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TCCTTGGCATGGGCTACAAGG 0.398000 22 40 0 0 1 0 0 AADAC 13 broad.mit.edu 37 3 151545640 151545640 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:151545640G>A ENST00000232892.6 + 5 1006 c.880G>A c.(880-882)Gga>Aga p.G294R RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 294 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GTTTATAAAAGGACATGTTTA 0.413000 28 32 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390018 158390018 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:158390018C>T ENST00000314902.2 - 1 638 c.639G>A c.(637-639)ttG>ttA p.L213L NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L213F(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ACACCAAGATCAACAATAAGG 0.448000 27 46 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961048 143961048 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:143961048T>C ENST00000292427.4 - 1 214 c.182A>G c.(181-183)tAt>tGt p.Y61C CYP11B1_ENST00000517471.1_Missense_Mutation_p.Y61C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Y61C NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 61 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAGGTCCTCATAACCCTGCTC 0.637000 Familial Hyperaldosteronism type I 25 64 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101095994 101095994 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:101095994G>A ENST00000537026.1 - 8 833 c.474C>T c.(472-474)ttC>ttT p.F158F NXF5_ENST00000361708.2_Silent_p.F158F|NXF5_ENST00000473265.2_Silent_p.F158F NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 158 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TCACCTCAGGGAAATTTCTTT 0.483000 82 25 0 0 1 0 0 PPIC 5480 broad.mit.edu 37 5 122359598 122359598 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:122359598G>T ENST00000306442.4 - 5 726 c.611C>A c.(610-612)cCt>cAt p.P204H NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 204 protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding p.P204L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) AACCACAAAAGGCGTTTTCAC 0.498000 59 70 5.73332e-34 5.84037e-34 1 1 0 DNAJA2 10294 broad.mit.edu 37 16 47001495 47001495 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:47001495G>A ENST00000317089.5 - 5 722 c.507C>T c.(505-507)atC>atT p.I169I NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 169 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) GTCTGATCATGATGCGCACAC 0.478000 60 45 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113730372 113730372 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:113730372G>A ENST00000397030.1 + 12 1537 c.1500G>A c.(1498-1500)caG>caA p.Q500Q MCF2L_ENST00000375601.3_Silent_p.Q471Q|MCF2L_ENST00000421756.1_Silent_p.Q471Q|MCF2L_ENST00000375608.3_Silent_p.Q497Q|MCF2L_ENST00000375597.4_Silent_p.Q465Q|MCF2L_ENST00000535094.2_Silent_p.Q467Q|MCF2L_ENST00000423482.2_Silent_p.Q465Q|MCF2L_ENST00000375604.2_Silent_p.Q524Q|MCF2L_ENST00000434480.2_Silent_p.Q473Q|MCF2L_ENST00000442652.2_Silent_p.Q497Q O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 497 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTGCCCTCCAGGAAATCGAGA 0.522000 16 70 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33500129 33500129 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:33500129G>A ENST00000404816.2 + 17 3194 c.2841G>A c.(2839-2841)atG>atA p.M947I LTBP1_ENST00000407925.1_Missense_Mutation_p.M621I|LTBP1_ENST00000404525.1_Missense_Mutation_p.M568I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M568I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M621I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M622I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M948I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 947 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGGATTTATGGCCAGTGAGG 0.463000 37 26 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38811572 38811572 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:38811572G>A ENST00000310803.5 - 4 504 c.326_splice c.e4-1 p.L109_splice RASGRP1_ENST00000539159.1_Splice_Site_p.L61_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.L109_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.L160_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.L109_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.L109_splice NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 109 N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity). cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CATCCTTATAGGTAGGGCTGT 0.373000 27 41 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103338734 103338734 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:103338734T>G ENST00000267273.6 - 4 447 c.442A>C c.(442-444)Aac>Cac p.N148H NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 148 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TATTGAAGGTTTCCCAGGACA 0.418000 28 55 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172360 42172360 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:42172360C>T ENST00000320955.6 - 14 3036 c.2809G>A c.(2809-2811)Gag>Aag p.E937K NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 937 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GGCTGTACCTCATATTTGAGC 0.587000 6 7 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70411843 70411843 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:70411843G>A ENST00000370577.3 - 10 1147 c.918C>T c.(916-918)atC>atT p.I306I LMBRD1_ENST00000370570.1_Silent_p.I233I NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 306 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TTCCCCAGACGATCTAAAAGC 0.269000 14 4 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34647265 34647265 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:34647265C>T ENST00000537011.1 + 7 1788 c.1406C>T c.(1405-1407)tCc>tTc p.S469F NUTM1_ENST00000438749.3_Missense_Mutation_p.S459F|NUTM1_ENST00000333756.4_Missense_Mutation_p.S441F NUT midline carcinoma, family member 1 GATCTGCTGTCCCCAGAAAAA 0.463000 44 63 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14014025 14014025 + Translation_Start_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:14014025G>A ENST00000311895.7 + 1 12 c.3G>A c.(1-3)atG>atA p.M1I ERCC4_ENST00000575156.1_Start_Codon_SNP_p.M1I NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 1 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GAGCTTCCATGGAGTCAGGGC 0.627000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 25 49 0 0 1 0 0 RP11-704M14.1 0 broad.mit.edu 37 4 70080520 70080520 + RNA SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:70080520A>T ENST00000505646.1 + 0 684 ATCAAGTTAAAATATAACTCC 0.343000 11 13 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189611995 189611995 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:189611995G>A ENST00000264731.3 + 14 1836 c.1746_splice c.e14-1 p.D583_splice TP63_ENST00000382063.4_Splice_Site_p.D498_splice|TP63_ENST00000392463.2_Splice_Site_p.R457_splice|TP63_ENST00000456148.1_Splice_Site_p.D485_splice|TP63_ENST00000449992.1_Splice_Site_p.D404_splice|TP63_ENST00000354600.5_Splice_Site_p.D489_splice|TP63_ENST00000392461.3_Splice_Site_p.R409_splice|TP63_ENST00000392460.3_Splice_Site_p.R551_splice|TP63_ENST00000440651.2_Splice_Site_p.D579_splice|TP63_ENST00000320472.5_Splice_Site_p.R503_splice NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 583 SAM. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTTGCACAGGATCTGGCAAG 0.493000 HNSCC(45;0.13) 20 30 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796673 21796673 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:21796673G>A ENST00000206660.6 + 18 2986 c.2986G>A c.(2986-2988)Gag>Aag p.E996K RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E322K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E355K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E958K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E653K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E996K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 996 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AAAGGAGAAGGAGCACCAGGT 0.428000 26 26 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54793064 54793064 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:54793064C>T ENST00000545554.1 + 21 5189 c.5189C>T c.(5188-5190)tCt>tTt p.S1730F UNC13C_ENST00000537900.1_Missense_Mutation_p.S1728F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1730F Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1730 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCTCTCTTTTCTTGCTCCGTG 0.428000 17 33 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18975061 18975061 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:18975061G>A ENST00000262803.5 + 20 3129 c.e20+1 UPF1_ENST00000599848.1_Splice_Site NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGCAGCCAGGGTGAGTCGCTC 0.617000 34 63 0 0 1 0 0 DPT 1805 broad.mit.edu 37 1 168683549 168683549 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:168683549C>T ENST00000367817.3 - 2 430 c.341G>A c.(340-342)gGa>gAa p.G114E NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 114 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) GCTCTGGAATCCTGCCACCAG 0.542000 15 79 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178096298 178096298 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:178096298C>T ENST00000397062.3 - 5 1587 c.1033G>A c.(1033-1035)Ggc>Agc p.G345S NFE2L2_ENST00000397063.4_Missense_Mutation_p.G329S|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G329S|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G322S NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 345 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AGTGAAATGCCGGAGTCAGAA 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 25 72 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022396 18022396 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:18022396G>A ENST00000205890.5 + 2 620 c.282G>A c.(280-282)aaG>aaA p.K94K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 94 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCATGGGCAAGAAGAAGCGGG 0.667000 13 12 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226733 149226733 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:149226733C>T ENST00000407073.1 + 9 2218 c.1221C>T c.(1219-1221)ctC>ctT p.L407L MBD5_ENST00000404807.1_Silent_p.L407L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 407 Pro-rich. chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAAGTAATCTCCCATTGCCAA 0.438000 52 84 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016610 27016610 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:27016610C>T ENST00000318627.2 + 1 983 c.537C>T c.(535-537)atC>atT p.I179I NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 179 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CACTGGACATCTCTGTGGGGC 0.557000 35 7 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29904716 29904716 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:29904716C>T ENST00000256062.5 - 5 970 c.497G>A c.(496-498)gGg>gAg p.G166E TMTC1_ENST00000552618.1_Missense_Mutation_p.G274E|TMTC1_ENST00000539277.1_Missense_Mutation_p.G274E|TMTC1_ENST00000381224.2_Missense_Mutation_p.G166E|TMTC1_ENST00000551659.1_Missense_Mutation_p.G274E NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 274 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CTGCTGCTTCCCATTCTCCCG 0.642000 11 9 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63973881 63973881 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:63973881G>A ENST00000398590.3 + 9 1795 c.1242G>A c.(1240-1242)ccG>ccA p.P414P ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 414 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCAGGGACCCGCATCCCGCCC 0.512000 5 221 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182468742 182468742 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:182468742C>T ENST00000410087.3 - 2 403 c.303G>A c.(301-303)gtG>gtA p.V101V CERKL_ENST00000409440.3_Silent_p.V101V|CERKL_ENST00000374970.2_Silent_p.V101V|CERKL_ENST00000339098.5_Silent_p.V101V|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Silent_p.V101V NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 101 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTTTCAGTTTCACAGAGAATA 0.308000 13 10 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798181 113798181 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:113798181G>A ENST00000375559.3 + 6 557 c.519G>A c.(517-519)ggG>ggA p.G173G F10_ENST00000409306.1_Silent_p.G173G|F10_ENST00000375551.3_Silent_p.G173G NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 173 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCCTGTGGGAAACAGACCC 0.627000 25 131 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173123 51173123 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:51173123C>T ENST00000440970.1 - 2 3150 c.2719G>A c.(2719-2721)Gac>Aac p.D907N SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D1004N NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1004 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCACAAATGTCACAAGCAGTG 0.403000 35 31 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52605076 52605076 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:52605076C>T ENST00000521776.2 + 2 2869 c.2136C>T c.(2134-2136)ttC>ttT p.F712F NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 712 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AGAGGGCTTTCCAAAAGCTGA 0.498000 67 182 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97462804 97462804 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:97462804C>T ENST00000377075.2 + 2 1556 c.1458C>T c.(1456-1458)ccC>ccT p.P486P CNNM4_ENST00000540067.1_5'UTR|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 486 CBS 2. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 AGGGTGACCCCTTCTACGAGG 0.587000 20 16 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47879173 47879173 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:47879173C>T ENST00000289672.2 - 36 5690 c.5640G>A c.(5638-5640)gtG>gtA p.V1880V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1880 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCTTCACCATCACGTGGCTGA 0.657000 11 5 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7947082 7947082 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:7947082G>A ENST00000229307.4 + 3 663 c.444G>A c.(442-444)atG>atA p.M148I NANOG_ENST00000526286.1_Missense_Mutation_p.M148I NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 148 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) ACCAGAGAATGAAATCTAAGA 0.373000 5 8 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20039417 20039417 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:20039417G>A ENST00000400230.2 - 9 698 c.654C>T c.(652-654)gaC>gaT p.D218D TPTE2_ENST00000382977.4_Silent_p.D218D|TPTE2_ENST00000382975.4_Silent_p.D178D|TPTE2_ENST00000457266.2_Silent_p.D107D|TPTE2_ENST00000255310.6_Silent_p.D141D|TPTE2_ENST00000400103.2_Silent_p.D107D|TPTE2_ENST00000390680.2_Silent_p.D141D|TPTE2_ENST00000382978.1_Silent_p.D178D Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 218 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D141D(1)|p.D218D(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGAGGTCTAGGTCAAATCCAT 0.313000 60 7 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47405415 47405415 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:47405415C>T ENST00000295454.3 + 6 917 c.625C>T c.(625-627)Cct>Tct p.P209S GABRB1_ENST00000538619.1_Missense_Mutation_p.P139S NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 209 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AATCGAACTTCCTCAATTTTC 0.413000 14 21 0 0 1 0 0 HINT3 135114 broad.mit.edu 37 6 126296113 126296113 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:126296113T>C ENST00000229633.5 + 4 707 c.510T>C c.(508-510)ttT>ttC p.F170F NM_138571.4 NP_612638.3 Q9NQE9 HINT3_HUMAN histidine triad nucleotide binding protein 3 170 mitochondrion|nucleolus hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|stomach(1) 4 UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321) CCTATTGGTTTATCACAGTGA 0.373000 41 8 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001844 98001844 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:98001844T>G ENST00000355273.2 + 1 113 c.113T>G c.(112-114)gTg>gGg p.V38G RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GTGTTCTTGGTGATCTATCTC 0.423000 142 125 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207527785 207527785 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:207527785G>A ENST00000452335.2 - 11 1591 c.1475C>T c.(1474-1476)cCc>cTc p.P492L NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 492 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) AACCATTTTGGGGATGTCCTG 0.502000 36 44 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22151093 22151093 + Silent SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:22151093G>C ENST00000374695.3 - 93 12760 c.12681C>G c.(12679-12681)ccC>ccG p.P4227P HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 4227 Laminin G-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGATGGTCTCGGGCACCTCGG 0.647000 26 4 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209950783 209950783 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:209950783C>T ENST00000367024.1 + 12 1656 c.1140C>T c.(1138-1140)tgC>tgT p.C380C TRAF3IP3_ENST00000367023.1_Silent_p.C116C|TRAF3IP3_ENST00000367025.3_Silent_p.C380C|TRAF3IP3_ENST00000010338.4_Silent_p.C360C|TRAF3IP3_ENST00000400959.3_Silent_p.C360C|TRAF3IP3_ENST00000477431.1_Silent_p.C116C|TRAF3IP3_ENST00000367026.3_Silent_p.C360C Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 380 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) AGATTGAATGCCTGCAAGGGG 0.542000 30 39 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233974 43233974 + Missense_Mutation SNP C C T rs151272583 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:43233974C>T ENST00000327495.5 - 4 1128 c.944G>A c.(943-945)cGa>cAa p.R315Q PSG3_ENST00000595140.1_Missense_Mutation_p.R315Q NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 315 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCCACCATATCGGTCCTGTAT 0.483000 69 126 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553816 140553816 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:140553816C>T ENST00000231137.3 + 1 1574 c.1400C>T c.(1399-1401)gCc>gTc p.A467V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 467 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAGCCCCGCCCTGCCCATC 0.627000 45 69 0 0 1 0 0 SIT1 27240 broad.mit.edu 37 9 35650624 35650624 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:35650624G>A ENST00000259608.3 - 2 197 c.111C>T c.(109-111)tcC>tcT p.S37S SIT1_ENST00000474403.1_Intron NM_014450.2 NP_055265.1 Q9Y3P8 SIT1_HUMAN signaling threshold regulating transmembrane adaptor 1 37 regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 9 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCTGGGTTATGGAGGGGATTC 0.652000 55 3 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105451247 105451247 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:105451247G>A ENST00000337685.2 + 5 2607 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K MUM1L1_ENST00000357175.2_Missense_Mutation_p.E608K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E608K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 608 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCAGTTGGATGAAGTGGTGAA 0.323000 11 4 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258413 25258413 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:25258413G>A ENST00000328086.7 - 5 1907 c.1104C>T c.(1102-1104)ccC>ccT p.P368P NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 368 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGCTATTTCGGGGACAGGCCT 0.458000 49 54 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306689 41306689 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:41306689C>T ENST00000373198.3 - 7 1205 c.970G>A c.(970-972)Gaa>Aaa p.E324K PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 324 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TATTCCACTTCCTTCAGGATG 0.567000 59 46 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145698163 145698163 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:145698163C>T ENST00000301331.5 + 11 1103 c.886C>T c.(886-888)Cgc>Tgc p.R296C KIFC2_ENST00000301332.2_Intron|KIFC2_ENST00000531423.1_3'UTR Q96AC6 KIFC2_HUMAN kinesin family member C2 36 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ATGTCGGGCTCGCTCGCCCCT 0.756000 8 14 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36572471 36572471 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:36572471A>G ENST00000401500.2 + 10 1405 c.1371_splice c.e10+1 p.N457_splice WDR62_ENST00000388999.3_Splice_Site_p.N457_splice|WDR62_ENST00000270301.7_Splice_Site_p.N457_splice NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 457 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ATCTTCAGCAATGTGAGTGGC 0.473000 30 50 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52256482 52256482 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:52256482C>T ENST00000597542.1 - 9 2879 c.1922G>A c.(1921-1923)gGa>gAa p.G641E TLR9_ENST00000360658.2_Missense_Mutation_p.G617E|TLR9_ENST00000494383.1_Silent_p.G770G Q9NR96 TLR9_HUMAN toll-like receptor 9 617 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) ATAGAGGTCTCCCTCGGCCCA 0.607000 16 34 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34324132 34324132 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:34324132C>T ENST00000257209.4 + 20 3614 c.3492C>T c.(3490-3492)atC>atT p.I1164I FHOD3_ENST00000445677.1_Silent_p.I1126I|FHOD3_ENST00000592128.1_Silent_p.I143I|FHOD3_ENST00000359247.4_Silent_p.I1147I|FHOD3_ENST00000590592.1_Silent_p.I1339I|FHOD3_ENST00000591635.1_Silent_p.I360I NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1147 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACTCGGAGATCGGGGCCATCA 0.562000 24 33 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24996708 24996708 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:24996708C>T ENST00000323848.9 + 15 2617 c.2302C>T c.(2302-2304)Cca>Tca p.P768S SRRM1_ENST00000374389.4_Missense_Mutation_p.P777S|SRRM1_ENST00000447431.2_Missense_Mutation_p.P780S|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 768 Pro-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCAGCACCTCCATCCCCCGT 0.582000 79 9 0 0 1 0 0 TRMT44 152992 broad.mit.edu 37 4 8469690 8469690 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:8469690C>T ENST00000389737.4 + 9 1544 c.1544C>T c.(1543-1545)tCc>tTc p.S515F TRMT44_ENST00000513449.2_Missense_Mutation_p.S274F NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) AGAGAAGCTTCCGTGGATGAA 0.507000 29 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594885 179594885 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179594885G>A ENST00000589042.1 - 62 18466 c.18242C>T c.(18241-18243)aCc>aTc p.T6081I TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5764I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T4837I|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5764 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAATGTAGGTTCCAGAATC 0.468000 24 20 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59547754 59547754 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:59547754G>A ENST00000038176.3 - 5 539 c.327C>T c.(325-327)ttC>ttT p.F109F NSMAF_ENST00000427130.2_Silent_p.F140F NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 109 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TTACCTGACTGAAAATGAGTG 0.294000 19 76 0 0 1 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434182 22434182 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:22434182G>A ENST00000390442.3 + 0 291 TGGTAACAAAGAAGATGGAAG 0.448000 62 69 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216271100 216271100 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:216271100C>T ENST00000354785.4 - 19 3216 c.2847G>A c.(2845-2847)gaG>gaA p.E949E FN1_ENST00000345488.5_Silent_p.E949E|FN1_ENST00000323926.6_Silent_p.E949E|FN1_ENST00000336916.4_Silent_p.E949E|FN1_ENST00000443816.1_Silent_p.E949E|FN1_ENST00000346544.3_Silent_p.E949E|FN1_ENST00000446046.1_Silent_p.E949E|FN1_ENST00000421182.1_Silent_p.E949E|FN1_ENST00000357009.2_Silent_p.E949E|FN1_ENST00000432072.2_Silent_p.E949E|FN1_ENST00000356005.4_Silent_p.E949E|FN1_ENST00000359671.1_Silent_p.E949E|FN1_ENST00000357867.4_Silent_p.E949E P02751 FINC_HUMAN fibronectin 1 949 Fibronectin type-III 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGCCCGTGCTCGCCAGGCA 0.582000 29 20 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134226076 134226076 + Missense_Mutation SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:134226076G>C ENST00000337090.3 + 3 343 c.170G>C c.(169-171)cGt>cCt p.R57P CEP63_ENST00000383229.3_Missense_Mutation_p.R57P|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000354446.3_Missense_Mutation_p.R57P|CEP63_ENST00000513612.2_Missense_Mutation_p.R57P|CEP63_ENST00000606977.1_Missense_Mutation_p.R57P|CEP63_ENST00000332047.5_Missense_Mutation_p.R57P Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 57 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTGAAAATCCGTGAACAGGAA 0.368000 20 37 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32086587 32086587 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32086587G>A ENST00000375201.4 - 11 1245 c.1200C>T c.(1198-1200)ttC>ttT p.F400F ATF6B_ENST00000375203.3_Silent_p.F403F Q99941 ATF6B_HUMAN activating transcription factor 6 beta 403 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGAAGAGAAGGAAGACCATGA 0.493000 65 420 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48486095 48486095 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:48486095C>T ENST00000273861.4 + 1 736 c.517C>T c.(517-519)Ctg>Ttg p.L173L NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 173 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GGCGGTGCTCCTGTGTGGCTG 0.637000 16 14 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15469800 15469800 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:15469800T>C ENST00000269701.2 - 13 1661 c.1601A>G c.(1600-1602)aAg>aGg p.K534R NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 534 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 TTCCAGCATCTTCACTATATG 0.443000 32 63 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16510246 16510246 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:16510246G>A ENST00000502640.1 - 7 951 c.803C>T c.(802-804)tCc>tTc p.S268F LDB2_ENST00000515064.1_Missense_Mutation_p.S268F|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Missense_Mutation_p.S268F|LDB2_ENST00000304523.5_Missense_Mutation_p.S268F|LDB2_ENST00000503178.2_Missense_Mutation_p.S144F O43679 LDB2_HUMAN LIM domain binding 2 268 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GCTGCTGTTGGAAGTGCTGCT 0.498000 37 34 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806795 143806795 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:143806795G>A ENST00000408979.2 + 1 189 c.120G>A c.(118-120)ggG>ggA p.G40G NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCCTGCTGGGGAATGGGGTCA 0.512000 17 90 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114294455 114294455 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:114294455C>T ENST00000357077.4 + 45 11762 c.11709C>T c.(11707-11709)atC>atT p.I3903I ANK2_ENST00000510275.2_Silent_p.I501I|ANK2_ENST00000509550.1_Silent_p.I994I|ANK2_ENST00000264366.6_Silent_p.I3870I|ANK2_ENST00000506722.1_Silent_p.I1809I|ANK2_ENST00000394537.3_Silent_p.I1818I NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3870 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTAGGAAAATCATTAGGCGGT 0.383000 20 31 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101892184 101892184 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:101892184C>T ENST00000360264.3 + 24 4433 c.4413C>T c.(4411-4413)ttC>ttT p.F1471F CUX1_ENST00000550008.2_Silent_p.F1404F|CUX1_ENST00000292535.7_Silent_p.F1460F|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Silent_p.F1358F|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.F1302F|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Silent_p.F1438F NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1460 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGAGCCTTTTCGGCCTCCCCG 0.746000 7 4 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951367 10951367 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:10951367G>A ENST00000298232.7 - 9 658 c.291C>T c.(289-291)ttC>ttT p.F97F TPTE_ENST00000361285.4_Silent_p.F115F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.F77F NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 115 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCTGTCAGTGAAAATTAGGT 0.313000 41 72 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 989020 989020 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:989020C>T ENST00000315939.6 + 11 3298 c.2655C>T c.(2653-2655)atC>atT p.I885I WNK1_ENST00000340908.4_Silent_p.I478I|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.I1383I NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 885 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGCTGCGATCCCGGGGGTAT 0.552000 55 57 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272349 52272349 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:52272349C>T ENST00000598776.1 + 2 1210 c.438C>T c.(436-438)atC>atT p.I146I FPR2_ENST00000340023.6_Silent_p.I146I|FPR2_ENST00000598953.1_Silent_p.I146I NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 146 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGAAGGTGATCGTCGGACCTT 0.478000 27 53 0 0 1 0 0 CYP27C1 339761 broad.mit.edu 37 2 127950810 127950810 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:127950810C>T ENST00000335247.7 - 7 992 c.862G>A c.(862-864)Gag>Aag p.E288K CYP27C1_ENST00000409327.1_Missense_Mutation_p.E288K NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 288 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GGCCGGAACTCCTTGGCCCGA 0.552000 27 62 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323969 31323969 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:31323969C>T ENST00000269197.5 + 12 4157 c.4157C>T c.(4156-4158)tCc>tTc p.S1386F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCCACTGTATCCATGGGTACC 0.507000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 58 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886109 57886109 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:57886109C>T ENST00000302610.1 - 1 807 c.808G>A c.(808-810)Gaa>Aaa p.E270K OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) ACTTTGTCTTCCTCCAGAGAT 0.458000 42 7 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106461486 106461486 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:106461486G>A ENST00000261402.2 - 7 2459 c.1080C>T c.(1078-1080)gtC>gtT p.V360V NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 360 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GCTCTAGCATGACCTCAGAGG 0.552000 25 31 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34110818 34110818 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:34110818G>A ENST00000389232.4 + 76 10709 c.10639G>A c.(10639-10641)Gaa>Aaa p.E3547K RYR3_ENST00000415757.3_Missense_Mutation_p.E3542K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3547 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAGAGACAGAAAAACAACC 0.488000 14 18 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83816953 83816953 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:83816953G>A ENST00000566620.1 + 13 2300 c.2010G>A c.(2008-2010)acG>acA p.T670T CDH13_ENST00000268613.10_Silent_p.T717T|CDH13_ENST00000428848.3_Silent_p.T631T NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 670 Cadherin 5. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CACCCATGACGAATATCACAG 0.522000 24 53 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240635664 240635664 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:240635664C>T ENST00000543681.1 + 2 2673 c.13C>T c.(13-15)Ccc>Tcc p.P5S FMN2_ENST00000545751.1_Intron|FMN2_ENST00000319653.9_Intron|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_Intron Q9NZ56 FMN2_HUMAN formin 2 1685 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTGTCTTCTCCCCATCAGAGT 0.343000 35 34 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654908 99654908 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:99654908C>T ENST00000292450.4 + 2 443 c.279C>T c.(277-279)ttC>ttT p.F93F ZSCAN21_ENST00000456748.2_Silent_p.F93F|ZSCAN21_ENST00000543588.1_Silent_p.F93F|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 93 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGGAGCAGTTCCTGACCATCC 0.632000 24 6 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068272 189068272 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:189068272G>A ENST00000332517.3 + 6 1293 c.1153G>A c.(1153-1155)Gat>Aat p.D385N TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 385 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AAAAATCGGAGATGATTACAG 0.502000 51 42 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058501 79058501 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:79058501G>A ENST00000388820.4 - 19 3962 c.3752C>T c.(3751-3753)tCc>tTc p.S1251F NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1251 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACTAGGAGAGGAGTGGGTGCT 0.657000 11 10 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274079 123274079 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:123274079C>T ENST00000264501.4 + 81 14243 c.13870C>T c.(13870-13872)Cga>Tga p.R4624* KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R4624* Q2LD37 K1109_HUMAN KIAA1109 4624 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGCACATCATCGACACTGGCC 0.443000 50 48 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132860462 132860462 + RNA SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:132860462T>G ENST00000434551.1 + 0 1034 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TCTGAAGAAGTAGAGACAGAT 0.348000 10 1 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27078786 27078786 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:27078786C>T ENST00000263182.3 + 4 626 c.258C>T c.(256-258)ttC>ttT p.F86F BBOX1_ENST00000529202.1_Silent_p.F86F|BBOX1_ENST00000528583.1_Silent_p.F86F|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.F86F NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 86 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) ACAGTGAATTCCAGGCTGATT 0.408000 70 9 0 0 1 0 0 HOGA1 112817 broad.mit.edu 37 10 99359856 99359856 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:99359856C>T ENST00000370646.4 + 5 997 c.636C>T c.(634-636)acC>acT p.T212T PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 TTCACAAGACCAGGAAGCAGG 0.552000 53 92 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058153 9058153 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:9058153G>A ENST00000397910.4 - 3 29496 c.29293C>T c.(29293-29295)Ctg>Ttg p.L9765L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9767 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTTCACCAGGCCTGGGAGG 0.488000 28 24 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191888302 191888302 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:191888302C>T ENST00000454309.2 - 4 1383 c.558G>A c.(556-558)ggG>ggA p.G186G FGF12_ENST00000450716.1_Silent_p.G124G|FGF12_ENST00000445105.1_Silent_p.G124G|FGF12_ENST00000430714.1_Silent_p.G87G|FGF12_ENST00000264730.3_Silent_p.G124G NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 186 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TCACTCTGTTCCCCTTCATAA 0.423000 109 74 0 0 1 0 0 LRRC37A5P 652972 broad.mit.edu 37 9 114371502 114371502 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:114371502G>A ENST00000374304.1 - 0 297 TCGTTGTTGGGGATGAGGGAC 0.502000 23 51 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111164451 111164451 + Missense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:111164451C>A ENST00000360467.5 + 48 5358 c.5052C>A c.(5050-5052)ttC>ttA p.F1684L NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1684 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGCAGAGCTTCCAGGGCTCGC 0.637000 42 98 9.88483e-10 9.97626e-10 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47874588 47874588 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:47874588C>T ENST00000289672.2 - 39 6154 c.6104G>A c.(6103-6105)gGa>gAa p.G2035E NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2035 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGTCTGTGCTCCTCCTCTAAG 0.537000 17 71 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043405 56043405 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:56043405C>T ENST00000313033.2 + 1 377 c.291C>T c.(289-291)ttC>ttT p.F97F NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TGGTCAATTTCCTGGCAAAAA 0.373000 40 5 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830229 231830229 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:231830229C>T ENST00000439617.2 + 2 778 c.725C>T c.(724-726)cCc>cTc p.P242L DISC1_ENST00000366633.3_Missense_Mutation_p.P242L|DISC1_ENST00000535983.1_Missense_Mutation_p.P242L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.P242L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.P242L|DISC1_ENST00000366636.4_Missense_Mutation_p.P242L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.P242L|DISC1_ENST00000602281.1_Missense_Mutation_p.P242L NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 242 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TGCCAGAGCCCCCAGGAGATG 0.612000 14 46 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240493991 240493991 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:240493991G>A ENST00000319653.9 + 11 4756 c.4526G>A c.(4525-4527)gGa>gAa p.G1509E FMN2_ENST00000545751.1_Missense_Mutation_p.G105E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1509 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGACTCGAGGACAGGCAGAT 0.423000 32 30 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711862 151711862 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:151711862G>A ENST00000392800.2 + 8 1414 c.1160G>A c.(1159-1161)tGg>tAg p.W387* GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.W387* NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 387 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GTGCACGTTTGGCTGGATGAA 0.473000 39 15 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093563 69093563 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:69093563C>T ENST00000295379.1 - 2 633 c.475G>A c.(475-477)Gat>Aat p.D159N NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 159 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TCTACTCCATCGTATATCATA 0.453000 30 38 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177901873 177901873 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:177901873G>A ENST00000308284.6 - 23 2981 c.2892C>T c.(2890-2892)tcC>tcT p.S964S SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 964 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GCAGAGGTGGGGACTCAGGGG 0.622000 9 18 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926269 1926269 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:1926269G>A ENST00000399161.2 - 10 2019 c.1272C>T c.(1270-1272)ttC>ttT p.F424F MYT1L_ENST00000428368.2_Silent_p.F424F NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 424 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) TGGTCATGTCGAACACCTCTT 0.567000 62 37 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47504342 47504342 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:47504342C>T ENST00000371901.3 + 7 1036 c.786C>T c.(784-786)atC>atT p.I262I CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I261I NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 262 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ATACAATAATCCAGGAAAGAA 0.388000 14 4 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422812 26422812 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:26422812G>A ENST00000335473.7 + 43 7122 c.6872G>A c.(6871-6873)aGg>aAg p.R2291K MYO18B_ENST00000407587.2_Missense_Mutation_p.R2292K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2291K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2291 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACACTAAGGAGGGGCAGGGCT 0.642000 32 3 0 0 1 0 0 TRGV9 6983 broad.mit.edu 37 7 38356705 38356705 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:38356705C>T ENST00000444775.2 - 0 1647 TTTCAGGTATCCTATCCACCT 0.483000 25 6 0 0 1 0 0 DIABLO 56616 broad.mit.edu 37 12 122710559 122710559 + Translation_Start_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:122710559C>T ENST00000443649.3 - 2 820 c.3G>A c.(1-3)atG>atA p.M1I DIABLO_ENST00000267169.6_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000413918.1_Start_Codon_SNP_p.M1I|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000353548.6_Start_Codon_SNP_p.M1I NM_019887.4 NP_063940.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 1 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) TCAGAGCCGCCATTGTGCAGC 0.682000 7 6 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171485 77171485 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:77171485C>T ENST00000253506.5 + 2 1579 c.1210C>T c.(1210-1212)Cct>Tct p.P404S NFATC1_ENST00000586434.1_Missense_Mutation_p.P391S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P404S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P404S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.P391S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P391S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P404S|NFATC1_ENST00000587635.1_Missense_Mutation_p.P404S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P391S NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 404 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GCCCCTGTCCCCTACGTCCTA 0.731000 6 4 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251315 35251315 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:35251315G>A ENST00000329285.7 - 4 764 c.391C>T c.(391-393)Cag>Tag p.Q131* NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTCCCTTCCTGAATTTTTATT 0.453000 67 39 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11784548 11784548 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:11784548G>A ENST00000262442.3 + 55 10692 c.10624G>A c.(10624-10626)Gaa>Aaa p.E3542K DNAH9_ENST00000454412.2_Missense_Mutation_p.E3542K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3542 AAA 5 (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) TGGAGACAAAGAATGTGAATA 0.453000 28 37 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114170249 114170249 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:114170249C>T ENST00000393081.1 + 8 1047 c.740C>T c.(739-741)cCt>cTt p.P247L ACSL5_ENST00000354273.4_Missense_Mutation_p.P247L|ACSL5_ENST00000369410.3_Missense_Mutation_p.P29L|ACSL5_ENST00000433418.1_Missense_Mutation_p.P247L|ACSL5_ENST00000356116.1_Missense_Mutation_p.P303L|ACSL5_ENST00000354655.4_Missense_Mutation_p.P247L NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 247 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTCAGAAAACCTGTGGTAAGT 0.443000 13 12 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138425405 138425405 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:138425405C>T ENST00000409968.1 + 27 4891 c.4713C>T c.(4711-4713)ttC>ttT p.F1571F THSD7B_ENST00000413152.2_Silent_p.F1543F|THSD7B_ENST00000272643.3_Silent_p.F1574F thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCATGATTTTCCTAATATTTA 0.313000 4 11 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87235216 87235216 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:87235216C>T ENST00000297524.3 - 2 905 c.802G>A c.(802-804)Gaa>Aaa p.E268K SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.E259K NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 268 integral to membrane amino acid transmembrane transporter activity p.E268K(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GAGAGAATTTCCCTGGGTGTC 0.383000 25 58 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175391 133175391 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:133175391G>A ENST00000329321.3 + 1 1245 c.776G>A c.(775-777)gGg>gAg p.G259E NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 259 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTGGCCGGGGGCACGCGG 0.627000 52 46 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42222157 42222157 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:42222157C>T ENST00000221992.6 + 6 1462 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L CEACAM5_ENST00000405816.1_Silent_p.L450L|CEACAM5_ENST00000398599.4_Silent_p.L449L|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 450 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GTATTCTTGGCTGATTGATGG 0.522000 46 35 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285573 48285573 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:48285573C>T ENST00000320048.1 + 1 161 c.161C>T c.(160-162)aCc>aTc p.T54I NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AAAGTGCTCACCTCCCCCATG 0.488000 26 7 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28573820 28573820 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:28573820C>T ENST00000220562.4 + 3 1146 c.244C>T c.(244-246)Ctg>Ttg p.L82L EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 82 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CGTGCTGGATCTGTGCCGCAT 0.587000 41 19 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33465810 33465810 + Missense_Mutation SNP G G A rs147925131 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:33465810G>A ENST00000379471.2 - 19 2537 c.2450C>T c.(2449-2451)tCg>tTg p.S817L NOL6_ENST00000455041.2_Missense_Mutation_p.S765L|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 817 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GTCCCTCAGCGAGATCATCCC 0.592000 28 3 0 0 1 0 0 EFHD1 80303 broad.mit.edu 37 2 233546325 233546325 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:233546325G>A ENST00000264059.3 + 4 1093 c.616G>A c.(616-618)Gaa>Aaa p.E206K EFHD1_ENST00000409613.1_Missense_Mutation_p.E110K|EFHD1_ENST00000410095.1_Missense_Mutation_p.E94K|EFHD1_ENST00000409708.1_Missense_Mutation_p.E94K NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 206 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) CAGTAAGTTTGAAGCAGAGTT 0.552000 51 93 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7653912 7653912 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:7653912A>C ENST00000359156.4 - 3 482 c.280T>G c.(280-282)Tgt>Ggt p.C94G CD163_ENST00000541972.1_Missense_Mutation_p.C82G|CD163_ENST00000396620.3_Missense_Mutation_p.C94G|CD163_ENST00000432237.2_Missense_Mutation_p.C94G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 94 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCAGTTGGACATCCCAGCTGG 0.512000 46 37 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103889 53103889 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:53103889G>A ENST00000408890.4 + 1 541 c.525G>A c.(523-525)cgG>cgA p.R175R NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 175 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGCACCCGGGAGACTCTGC 0.716000 4 28 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219752 42219752 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:42219752C>T ENST00000221992.6 + 4 1001 c.887C>T c.(886-888)tCc>tTc p.S296F CEACAM5_ENST00000405816.1_Missense_Mutation_p.S296F|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S296F|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 296 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AATAGTGGATCCTATACGTGC 0.478000 22 41 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48277309 48277309 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:48277309C>T ENST00000225964.5 - 2 222 c.e2-1 NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ATTGGTGGGACTGGGACAGGC 0.587000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 66 69 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104175794 104175794 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:104175794G>A ENST00000020673.5 - 3 1263 c.737C>T c.(736-738)tCc>tTc p.S246F PSD_ENST00000406432.1_Missense_Mutation_p.S246F NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 246 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGGGTCCAAGGAGCCATAGAA 0.617000 6 12 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48674097 48674097 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:48674097C>T ENST00000352832.5 + 15 3374 c.3002C>T c.(3001-3003)tCc>tTc p.S1001F CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1024F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1001F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1024F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1001F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1001F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1001F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1024F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1024F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1024 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCAGTGGTGTCCCTGGGAGAG 0.662000 18 10 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809549 48809549 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:48809549C>T ENST00000309835.3 + 1 1787 c.1777C>T c.(1777-1779)Ctg>Ttg p.L593L STON1-GTF2A1L_ENST00000394754.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L593L|STON1_ENST00000406226.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L593L|STON1_ENST00000404752.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L593L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L593L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCAGAAGTCTCTGAAAGCTAA 0.473000 30 65 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151074236 151074236 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:151074236G>A ENST00000568733.1 + 15 1911 c.1845G>A c.(1843-1845)ctG>ctA p.L615L NUB1_ENST00000566856.1_Silent_p.L577L|NUB1_ENST00000413040.2_Silent_p.L601L|NUB1_ENST00000355851.4_Silent_p.L591L|WDR86_ENST00000463000.1_Intron Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 591 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ACTCAACTCTGGAAGATGAAG 0.393000 3 2 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35402016 35402016 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:35402016C>T ENST00000453357.2 + 1 107 c.51C>T c.(49-51)tcC>tcT p.S17S UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTGGGACTTCCGGGTTCCTGT 0.428000 35 54 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4119180 4119180 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:4119180G>A ENST00000404826.2 + 22 3427 c.3288G>A c.(3286-3288)ggG>ggA p.G1096G SDK1_ENST00000389531.3_Silent_p.G1096G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1096 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCTATGACGGGAAAACGTCCA 0.572000 19 87 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129704369 129704369 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:129704369G>A ENST00000421865.2 + 35 5111 c.5062G>A c.(5062-5064)Gat>Aat p.D1688N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1688 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTTGCCCGGGATGCAGAAGG 0.443000 33 5 0 0 1 0 0 PTTG1IP 754 broad.mit.edu 37 21 46276172 46276172 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:46276172G>A ENST00000330938.3 - 4 605 c.385C>T c.(385-387)Ccg>Tcg p.P129S PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P108S|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 129 protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) CTCCTGTCCGGCTTCCGGCTC 0.627000 50 34 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424264 56424264 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:56424264G>A ENST00000588751.1 - 5 943 c.919C>T c.(919-921)Ctg>Ttg p.L307L NLRP13_ENST00000342929.3_Silent_p.L307L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 307 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATAATAAACAGGAGCTTCTCT 0.448000 26 27 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435781 5435781 + Missense_Mutation SNP G G A rs148029829 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:5435781G>A ENST00000380419.3 - 4 1077 c.1040C>T c.(1039-1041)tCt>tTt p.S347F TUBAL3_ENST00000479328.1_Missense_Mutation_p.S307F NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 347 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.S347F(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 AAACTGAACAGAGTGCCTCGA 0.577000 17 23 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610836 50610836 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:50610836G>A ENST00000371824.1 + 2 474 c.217G>A c.(217-219)Gaa>Aaa p.E73K ELAVL4_ENST00000357083.4_Missense_Mutation_p.E90K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.E73K|ELAVL4_ENST00000448907.2_Missense_Mutation_p.E76K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E78K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E78K|ELAVL4_ENST00000371823.4_Missense_Mutation_p.E73K|ELAVL4_ENST00000492299.1_3'UTR P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 73 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TGGTGAAATAGAATCCTGCAA 0.413000 55 4 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9922071 9922071 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:9922071G>A ENST00000506583.1 - 9 1070 c.853C>T c.(853-855)Cgc>Tgc p.R285C SLC2A9_ENST00000309065.3_Missense_Mutation_p.R285C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R314C Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 314 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ACCTGCCAGCGGACGTAGGGA 0.627000 16 16 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51751179 51751179 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:51751179C>T ENST00000543196.2 - 9 1761 c.1556G>A c.(1555-1557)gGg>gAg p.G519E GALNT6_ENST00000356317.3_Missense_Mutation_p.G519E Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 519 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GAGGGGCTTCCCCCCGCGGTT 0.602000 21 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067275 9067275 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:9067275G>A ENST00000397910.4 - 3 20374 c.20171C>T c.(20170-20172)tCc>tTc p.S6724F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6726 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AATGCCAAGGGAGATAGGCAG 0.483000 93 210 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86877370 86877370 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:86877370G>A ENST00000373119.4 + 5 1229 c.1084G>A c.(1084-1086)Gga>Aga p.G362R KLHL4_ENST00000373114.4_Missense_Mutation_p.G362R NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 362 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GAATAGGCAAGGAGAACTGGG 0.418000 46 17 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600814 232600814 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:232600814G>A ENST00000366630.1 - 8 2950 c.2592C>T c.(2590-2592)ttC>ttT p.F864F SIPA1L2_ENST00000262861.4_Silent_p.F864F Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 864 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CAGACTGGCCGAAGTCCCGGG 0.473000 49 108 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103257169 103257169 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:103257169C>T ENST00000376052.3 + 2 208 c.192C>T c.(190-192)atC>atT p.I64I TPP2_ENST00000376065.4_Silent_p.I64I P29144 TPP2_HUMAN tripeptidyl peptidase II 64 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AACCAAAAATCGTTGATATCA 0.343000 21 85 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122728701 122728701 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:122728701C>T ENST00000512454.1 + 5 697 c.481C>T c.(481-483)Cct>Tct p.P161S EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.P177S|EXOSC9_ENST00000379663.3_Missense_Mutation_p.P177S Q06265 EXOS9_HUMAN exosome component 9 177 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 ACAGTATACACCTGAAGAGCG 0.363000 25 24 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135452 126135452 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:126135452G>A ENST00000299308.3 + 7 1860 c.1852G>A c.(1852-1854)Gac>Aac p.D618N TMEM132B_ENST00000535886.1_Missense_Mutation_p.D130N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 618 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCAGTTACAGGACGGCAGGAC 0.597000 18 25 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328230 3328230 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:3328230C>T ENST00000378398.3 + 10 1554 c.1472C>T c.(1471-1473)cCc>cTc p.P491L PRDM16_ENST00000378391.2_Missense_Mutation_p.P490L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P490L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P490L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P491L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P491L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P490L|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 490 Pro-rich. S -> Y (in Ref. 2; AAG33382). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GAGTACTTTCCCTCCAGGCCG 0.667000 T EVI1 """MDS, AML""" 79 7 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206730 104206730 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:104206730G>A ENST00000202556.9 - 12 2305 c.2023C>T c.(2023-2025)Ctc>Ttc p.L675F PPP1R13B_ENST00000423488.2_Missense_Mutation_p.L94F|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 675 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ATGGGCGTGAGCTTGGTGGGG 0.657000 51 83 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102906 22102906 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:22102906G>A ENST00000542433.1 - 1 190 c.93C>T c.(91-93)ctC>ctT p.L31L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGACCAGGAAGAGGAGGCTTC 0.502000 47 47 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49072962 49072962 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:49072962C>T ENST00000376265.2 - 27 3210 c.3149G>A c.(3148-3150)gGa>gAa p.G1050E CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1039E|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G985E NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1050 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGACACGTCTCCATCTGGGTA 0.567000 9 0 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106307359 106307359 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:106307359G>A ENST00000390556.2 - 0 678 CTGGCTCTGGGAGCCGTTGCT 0.677000 4 5 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307396 46307396 + Silent SNP C C T rs76939117 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:46307396C>T ENST00000357422.2 + 4 1290 c.747C>T c.(745-747)ttC>ttT p.F249F CCR3_ENST00000545097.1_Silent_p.F270F|CCR3_ENST00000395942.2_Silent_p.F249F|CCR3_ENST00000541018.1_Silent_p.F249F|CCR3_ENST00000395940.2_Silent_p.F249F P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 249 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CGGTGTTTTTCATTTTCTGGA 0.458000 46 30 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53162536 53162536 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:53162536G>A ENST00000332411.2 - 9 1931 c.1878C>T c.(1876-1878)tcC>tcT p.S626S NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 626 Tail. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCGTGGTCTGGGAGAAGCGGA 0.542000 43 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590660 179590660 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179590660C>T ENST00000589042.1 - 70 20613 c.20389G>A c.(20389-20391)Gac>Aac p.D6797N TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6480N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5553N|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6480 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCGCTTGTCTTTGTACCAT 0.428000 20 32 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942268 6942268 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:6942268G>A ENST00000317834.3 + 1 64 c.36G>A c.(34-36)caG>caA p.Q12Q NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGTAAACAGGCAAAAATAT 0.403000 25 0 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374648 163374648 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:163374648A>T ENST00000332142.5 - 4 583 c.484T>A c.(484-486)Ttc>Atc p.F162I KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.F162I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 162 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGACCAGGGAATTTGAACCCA 0.383000 36 40 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587483 36587483 + Silent SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:36587483A>G ENST00000332987.1 - 7 1106 c.684T>C c.(682-684)ttT>ttC p.F228F APOL4_ENST00000352371.1_Silent_p.F231F|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 232 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 AATCAAGTGCAAAAGAAAGCA 0.478000 54 5 0 0 1 0 0 ATIC 471 broad.mit.edu 37 2 216184408 216184408 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:216184408C>T ENST00000435675.1 + 3 632 c.241C>T c.(241-243)Cca>Tca p.P81S ATIC_ENST00000236959.9_Missense_Mutation_p.P82S|ATIC_ENST00000540518.1_Missense_Mutation_p.P23S P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 82 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TCGTAATATTCCAGAAGATAA 0.313000 T ALK ALCL 13 41 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938438 38938438 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:38938438C>T ENST00000450244.1 - 14 2499 c.2301G>A c.(2299-2301)ggG>ggA p.G767G SCN11A_ENST00000456224.3_Silent_p.G767G|SCN11A_ENST00000302328.3_Silent_p.G767G|SCN11A_ENST00000444237.2_Silent_p.G767G Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 767 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGATCCATTCCCCGCAGAGGA 0.468000 35 21 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30136170 30136170 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:30136170C>T ENST00000376694.4 + 3 1040 c.571C>T c.(571-573)Ctg>Ttg p.L191L TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 191 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCTGGCCAGGCTGAGGGAGCT 0.547000 48 30 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87792381 87792381 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:87792381G>A ENST00000398204.4 + 23 2285 c.1962G>A c.(1960-1962)ggG>ggA p.G654G ADAM22_ENST00000265727.7_Silent_p.G654G|ADAM22_ENST00000398201.4_Silent_p.G654G|ADAM22_ENST00000315984.7_Silent_p.G654G|ADAM22_ENST00000398209.3_Silent_p.G654G NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 654 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGGAAGATGGGACACCTTGTG 0.398000 9 69 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117964918 117964918 + Silent SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:117964918T>C ENST00000425217.1 - 13 1776 c.1722A>G c.(1720-1722)gaA>gaG p.E574E KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.E603E|KSR2_ENST00000302438.5_Silent_p.E300E NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 603 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGGATTTCCTTCCAAGCTGT 0.438000 61 74 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52265188 52265188 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:52265188C>T ENST00000321600.1 + 3 491 c.445C>T c.(445-447)Cag>Tag p.Q149* DYNAP_ENST00000585973.1_Nonsense_Mutation_p.Q97* NM_173629.1 NP_775900.1 dynactin associated protein CATTGTTATCCAGCTATCCAC 0.453000 13 21 0 0 1 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830121 26830121 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:26830121C>T ENST00000215906.5 + 2 978 c.540C>T c.(538-540)tcC>tcT p.S180S NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 180 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 CCTATTTCTCCCGGGACGCAC 0.587000 34 3 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41447102 41447102 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:41447102C>T ENST00000400454.1 - 27 5227 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1584 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCCCTTCTTCGTTTTGGACA 0.527000 28 25 0 0 1 0 0 FAM71C 196472 broad.mit.edu 37 12 100042400 100042400 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:100042400C>T ENST00000324341.1 + 1 870 c.448C>T c.(448-450)Ctt>Ttt p.L150F ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 150 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CTCTTTTTATCTTCAGCTGTG 0.468000 13 25 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24888627 24888627 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:24888627G>A ENST00000347898.3 + 7 1148 c.526G>A c.(526-528)Gat>Aat p.D176N SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 176 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTTGCACCTGGATCTGTACCT 0.483000 101 191 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818473 26818473 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:26818473C>T ENST00000444914.3 + 5 1160 c.740C>T c.(739-741)cCt>cTt p.P247L SLC13A2_ENST00000314669.5_Missense_Mutation_p.P198L|SLC13A2_ENST00000545060.1_Missense_Mutation_p.P155L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.P127L NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 198 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CAGGCCCTCCCTGTCACGTCT 0.652000 17 35 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563708 22563708 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:22563708C>T ENST00000419308.2 - 2 356 c.154G>A c.(154-156)Ggc>Agc p.G52S FOXA2_ENST00000319993.4_Missense_Mutation_p.G58S|FOXA2_ENST00000377115.4_Missense_Mutation_p.G52S NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 52 Transactivation domain 1 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GAGCCGCTGCCCATGGCGGCC 0.682000 31 74 0 0 1 0 0 ACTR10 55860 broad.mit.edu 37 14 58675766 58675766 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:58675766G>A ENST00000254286.4 + 4 363 c.283G>A c.(283-285)Gta>Ata p.V95I NM_018477.2 NP_060947.1 Q9NZ32 ARP10_HUMAN actin-related protein 10 homolog (S. cerevisiae) 95 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 13 TATCGAATCGGTATTATGTCC 0.333000 34 44 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103001376 103001376 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:103001376G>A ENST00000409599.1 + 8 1083 c.727G>A c.(727-729)Gaa>Aaa p.E243K IL18R1_ENST00000233957.1_Missense_Mutation_p.E243K Q13478 IL18R_HUMAN interleukin 18 receptor 1 243 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTTGCTGAATGAAGAGGATGT 0.333000 29 59 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11416268 11416268 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:11416268G>A ENST00000423059.3 - 27 5069 c.4818C>T c.(4816-4818)acC>acT p.T1606T AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1606 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CGTAAACCCAGGTCTTTAGTC 0.348000 HNSCC(18;0.044) 3 2 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48756172 48756172 + Silent SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:48756172A>G ENST00000316623.5 - 41 5444 c.4989T>C c.(4987-4989)tgT>tgC p.C1663C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1663 EGF-like 28; calcium-binding. C -> R (in MFS).|C -> Y (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGTGTTGTAACATGTCCCTG 0.408000 15 27 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103001406 103001406 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:103001406G>A ENST00000409599.1 + 8 1113 c.757G>A c.(757-759)Gaa>Aaa p.E253K IL18R1_ENST00000233957.1_Missense_Mutation_p.E253K Q13478 IL18R_HUMAN interleukin 18 receptor 1 253 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GATGTTCGGGGAAGAAAATGG 0.328000 25 47 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19674039 19674039 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:19674039C>T ENST00000328041.6 + 13 1658 c.1461C>T c.(1459-1461)atC>atT p.I487I RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 487 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGCTGTGGATCGCAGCCTTCT 0.502000 27 31 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102894633 102894633 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:102894633C>T ENST00000359520.7 + 7 1224 c.998C>T c.(997-999)tCg>tTg p.S333L TECPR2_ENST00000558678.1_Missense_Mutation_p.S333L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 333 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GTGTCTGTTTCGTGCACAGAA 0.323000 12 14 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22563741 22563741 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:22563741G>A ENST00000550753.1 + 0 1396 NR_003676.2 TTCCAAGATGGCCAGGACCCT 0.448000 17 99 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417743 150417743 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:150417743C>T ENST00000307194.5 + 3 791 c.651C>T c.(649-651)ggC>ggT p.G217G NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCACAAGGGCGCCCATTACT 0.697000 10 2 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115581954 115581954 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:115581954C>T ENST00000265440.7 - 7 836 c.656G>A c.(655-657)cGg>cAg p.R219Q TFEC_ENST00000320239.7_Missense_Mutation_p.R190Q|TFEC_ENST00000484212.1_Missense_Mutation_p.R309Q|TFEC_ENST00000457268.1_Missense_Mutation_p.R152Q|TFEC_ENST00000393485.1_Missense_Mutation_p.R190Q NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) AACCTGAATCCGAAGTAGAAG 0.398000 55 24 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041297 39041297 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:39041297G>A ENST00000167588.3 - 1 182 c.141C>T c.(139-141)tcC>tcT p.S47S NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 47 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) GTCTGGAGTTGGAGATGCGGA 0.597000 27 47 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585198 61585198 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:61585198G>A ENST00000238508.3 + 4 293 c.e4-1 NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CTCTTTTAAAGGAATTCAACT 0.338000 15 16 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90036050 90036050 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:90036050G>A ENST00000428670.3 - 3 747 c.291C>T c.(289-291)acC>acT p.T97T ATP2B1_ENST00000359142.3_Silent_p.T97T|ATP2B1_ENST00000348959.3_Silent_p.T97T|ATP2B1_ENST00000261173.2_Silent_p.T97T P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 97 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 ATTGAAGAAAGGTTTTTGGCT 0.333000 88 129 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131519695 131519695 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:131519695C>T ENST00000423981.1 + 2 160 c.50C>T c.(49-51)tCc>tTc p.S17F AMER3_ENST00000321420.4_Missense_Mutation_p.S17F NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CTGCAGGTTTCCCACGAGAAA 0.617000 15 15 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65270363 65270363 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:65270363C>T ENST00000389722.3 - 3 489 c.436G>A c.(436-438)Gtc>Atc p.V146I SPTB_ENST00000556626.1_Missense_Mutation_p.V146I|SPTB_ENST00000542895.1_Missense_Mutation_p.V146I|SPTB_ENST00000389720.3_Missense_Mutation_p.V146I|SPTB_ENST00000389721.5_Missense_Mutation_p.V146I NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 146 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGGCCCAGGACCAGGCGGTGG 0.597000 26 36 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49061780 49061780 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:49061780G>A ENST00000376265.2 - 48 5812 c.5751C>T c.(5749-5751)ttC>ttT p.F1917F CACNA1F_ENST00000323022.5_Silent_p.F1906F|CACNA1F_ENST00000376251.1_Silent_p.F1852F NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1917 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCAGGGCCACGAAACGTGGGT 0.602000 11 2 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756887 71756887 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:71756887C>T ENST00000318442.5 - 2 927 c.437G>A c.(436-438)gGg>gAg p.G146E NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGGCTTGCCCCCAAAGTGTTC 0.617000 52 78 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14030636 14030636 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:14030636C>T ENST00000318003.7 + 12 1469 c.1228C>T c.(1228-1230)Ccc>Tcc p.P410S CC2D1A_ENST00000589606.1_Missense_Mutation_p.P410S NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 410 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) CCCAGGCTTCCCCCCAATCCA 0.587000 26 25 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70980945 70980945 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:70980945G>A ENST00000334414.6 - 9 2197 c.2153C>T c.(2152-2154)tCc>tTc p.S718F PTPRB_ENST00000451516.2_Missense_Mutation_p.S410F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S500F|PTPRB_ENST00000551525.1_Missense_Mutation_p.S717F|PTPRB_ENST00000550857.1_Missense_Mutation_p.S410F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S718F|PTPRB_ENST00000538708.1_Missense_Mutation_p.S500F|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 500 Fibronectin type-III 8. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTCAGCTAGGGAAATGATGTA 0.478000 24 26 0 0 1 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38411538 38411538 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:38411538G>A ENST00000377694.1 - 4 718 c.696C>T c.(694-696)ccC>ccT p.P232P NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 232 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CCTTTCGCAGGGGGTTGATCT 0.448000 31 1 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495596 179495596 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179495596C>T ENST00000589042.1 - 238 44313 c.44089G>A c.(44089-44091)Gaa>Aaa p.E14697K TTN_ENST00000460472.2_Missense_Mutation_p.E5632K|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13056 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGAGATTTCGGTTTCAAAG 0.493000 38 73 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384232 20384232 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:20384232G>A ENST00000302451.4 - 7 1058 c.810C>T c.(808-810)tcC>tcT p.S270S NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 270 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGTGCAACTCGGAAATCAGAT 0.458000 22 47 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78656104 78656104 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:78656104A>T ENST00000436010.2 - 27 5403 c.4406T>A c.(4405-4407)gTg>gAg p.V1469E ROBO1_ENST00000464233.1_Missense_Mutation_p.V1508E|ROBO1_ENST00000467549.1_Missense_Mutation_p.V1408E|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1463E|ROBO1_ENST00000466906.1_5'UTR Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1508 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GAGTTTTGGCACCACTACAGG 0.473000 93 76 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43319199 43319199 + Missense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:43319199C>A ENST00000380486.3 - 13 2074 c.1833G>T c.(1831-1833)atG>atT p.M611I C2CD2_ENST00000329623.7_Missense_Mutation_p.M456I NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 611 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CCAAGACACTCATGGAGCTCT 0.632000 43 47 3.76604e-16 3.82446e-16 1 1 0 CD163 9332 broad.mit.edu 37 12 7653843 7653843 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:7653843G>A ENST00000359156.4 - 3 551 c.349C>T c.(349-351)Cat>Tat p.H117Y CD163_ENST00000541972.1_Missense_Mutation_p.H105Y|CD163_ENST00000396620.3_Missense_Mutation_p.H117Y|CD163_ENST00000432237.2_Missense_Mutation_p.H117Y NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 117 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAAGAAACATGATCCATCCAA 0.483000 58 56 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70520836 70520836 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:70520836C>T ENST00000265872.6 + 16 2112 c.1993C>T c.(1993-1995)Cga>Tga p.R665* CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R650*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R650* NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 665 SAP. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.R665R(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GTTAATAGCCCGATTGACAAA 0.368000 15 22 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770022 53770022 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:53770022C>T ENST00000311170.4 - 1 950 c.897G>A c.(895-897)tgG>tgA p.W299* NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 299 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GTCATCTTTTCCAGGCAAAAC 0.403000 HNSCC(26;0.072) 10 24 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164786616 164786616 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:164786616A>G ENST00000264382.3 - 5 439 c.377T>C c.(376-378)gTt>gCt p.V126A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 126 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTGGCTTCAACTCCTTAAAG 0.318000 HNSCC(35;0.089) 25 42 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398303 23398303 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:23398303G>A ENST00000379361.4 + 2 1807 c.947G>A c.(946-948)gGg>gAg p.G316E NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 316 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 ACTGCAGCCGGGATCATCAAT 0.522000 58 8 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20874853 20874853 + RNA SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:20874853T>A ENST00000556948.1 - 0 395 CCAGTAGTAATATTTTAAGGT 0.333000 13 104 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15600105 15600105 + Missense_Mutation SNP C C T rs138187704 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:15600105C>T ENST00000378076.3 - 26 3087 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 912 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTGTGGAATTCGACCACATGT 0.498000 36 31 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56755153 56755153 + Splice_Site SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:56755153A>G ENST00000267460.4 + 4 595 c.e4-1 NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TGATTTACTTAGGTGGGCAGA 0.438000 8 9 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43319197 43319197 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:43319197C>T ENST00000380486.3 - 13 2076 c.1835G>A c.(1834-1836)aGt>aAt p.S612N C2CD2_ENST00000329623.7_Missense_Mutation_p.S457N NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 612 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CTCCAAGACACTCATGGAGCT 0.632000 45 45 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096889 73096889 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:73096889C>T ENST00000450736.2 + 4 1546 c.1131C>T c.(1129-1131)ttC>ttT p.F377F SLC16A5_ENST00000580123.1_Silent_p.F377F|SLC16A5_ENST00000329783.4_Silent_p.F377F|SLC16A5_ENST00000538213.2_Silent_p.F417F O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 377 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCCTTGCTTTCCTCATCTCCC 0.597000 5 9 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65105286 65105286 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:65105286G>A ENST00000358691.5 - 29 4601 c.4435C>T c.(4435-4437)Ctg>Ttg p.L1479L HELZ_ENST00000580168.1_Silent_p.L1480L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AAGCTATTCAGATGTGAAGGA 0.488000 30 40 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97271121 97271121 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:97271121G>A ENST00000599854.1 - 15 2075 c.1608C>T c.(1606-1608)tcC>tcT p.S536S KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Silent_p.S443S|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.S623S NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 649 GGGAGATAAGGGACACCTTGA 0.527000 51 36 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116620569 116620569 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:116620569C>T ENST00000369248.4 + 15 2344 c.2009C>T c.(2008-2010)cCa>cTa p.P670L FAM160B1_ENST00000369250.3_Missense_Mutation_p.P670L NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 670 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TTCCCTCATCCACACATCCAC 0.388000 47 63 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160970542 160970542 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:160970542G>A ENST00000368026.6 - 4 541 c.267C>T c.(265-267)ttC>ttT p.F89F F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 89 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) CAGTTGGCAAGAAGGTCACCC 0.542000 54 44 0 0 1 0 0 PIGT 51604 broad.mit.edu 37 20 44054260 44054260 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:44054260G>A ENST00000279036.6 + 12 1611 c.1531G>A c.(1531-1533)Gag>Aag p.E511K PIGT_ENST00000341555.5_Missense_Mutation_p.E317K|PIGT_ENST00000279035.9_Missense_Mutation_p.E409K|PIGT_ENST00000535404.1_Missense_Mutation_p.E356K|PIGT_ENST00000545755.1_Missense_Mutation_p.E249K|PIGT_ENST00000372689.5_Missense_Mutation_p.E444K|PIGT_ENST00000543458.2_Missense_Mutation_p.E455K NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 511 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) GCTCTACACGGAGCCGCTGCT 0.597000 9 30 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174606552 174606552 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:174606552C>T ENST00000251507.4 + 14 1924 c.1750C>T c.(1750-1752)Cgt>Tgt p.R584C NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 584 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 AGATATTCATCGTACATTTCC 0.358000 14 46 0 0 1 0 0 SCCPDH 51097 broad.mit.edu 37 1 246921631 246921631 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:246921631C>T ENST00000366510.3 + 6 1044 c.668C>T c.(667-669)cCg>cTg p.P223L NM_016002.2 NP_057086.2 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 223 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) AAACCTGTCCCGCTCATTGGT 0.323000 22 29 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987899 61987899 + Silent SNP C C T rs35490558 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:61987899C>T ENST00000392824.4 - 2 457 c.396G>A c.(394-396)agG>agA p.R132R CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TAGGCTTCTTCCTAGGGGAAG 0.507000 37 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075800 9075800 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:9075800G>A ENST00000397910.4 - 3 11849 c.11646C>T c.(11644-11646)atC>atT p.I3882I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3883 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATCTCAGTGATCCAAGGTG 0.448000 22 26 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160560827 160560827 + Missense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:160560827C>A ENST00000366963.4 + 7 1351 c.1204C>A c.(1204-1206)Cgc>Agc p.R402S SLC22A1_ENST00000457470.2_Missense_Mutation_p.R402S|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R402S NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 402 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CCGCGTGGGCCGCATCTACCC 0.557000 3 54 0.00024832 0.000249081 1 1 0 SIN3B 23309 broad.mit.edu 37 19 16942440 16942440 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:16942440G>T ENST00000379803.1 + 3 377 c.363G>T c.(361-363)caG>caT p.Q121H SIN3B_ENST00000596802.1_Missense_Mutation_p.Q121H|SIN3B_ENST00000248054.5_Missense_Mutation_p.Q121H NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 121 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 TAAACATACAGTCGCCTCTGA 0.502000 27 58 2.2171e-23 2.25616e-23 1 1 0 KIF13A 63971 broad.mit.edu 37 6 17772250 17772250 + Silent SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:17772250A>G ENST00000378814.5 - 36 4325 c.4326T>C c.(4324-4326)ccT>ccC p.P1442P KIF13A_ENST00000259711.6_Silent_p.P1455P|KIF13A_ENST00000378826.2_Silent_p.P1455P|KIF13A_ENST00000378843.2_Silent_p.P1442P|KIF13A_ENST00000378816.5_Silent_p.P1455P NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1455 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ATGCTTTAAAAGGGCTGACGG 0.443000 4 238 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784267 82784267 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:82784267C>T ENST00000423517.2 - 2 2027 c.1690G>A c.(1690-1692)Gga>Aga p.G564R PCLO_ENST00000333891.8_Missense_Mutation_p.G564R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 510 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGAGGTTTTCCAGATCCTGTT 0.507000 50 333 0 0 1 0 0 FCGR1A 2209 broad.mit.edu 37 1 149759964 149759964 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:149759964G>A ENST00000369168.4 + 4 404 c.350G>A c.(349-351)gGa>gAa p.G117E RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 117 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCACGGAAGGAGAACCTCTG 0.463000 68 82 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12121632 12121632 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:12121632C>T ENST00000379388.2 + 4 1936 c.1604C>T c.(1603-1605)cCa>cTa p.P535L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 535 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGCTTCACTCCAAGCAGTCCA 0.458000 17 48 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111846817 111846817 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:111846817G>A ENST00000421043.1 + 1 66 c.46G>A c.(46-48)Gac>Aac p.D16N ZNF277_ENST00000361822.3_Missense_Mutation_p.D16N|ZNF277_ENST00000450657.1_Missense_Mutation_p.D16N Q9NRM2 ZN277_HUMAN zinc finger protein 277 16 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AATGCAGGAAGACCGTGATGG 0.642000 17 10 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855414 31855414 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:31855414G>A ENST00000395728.3 - 14 2121 c.2122C>T c.(2122-2124)Cct>Tct p.P708S EHMT2_ENST00000375537.4_Missense_Mutation_p.P651S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P674S|EHMT2_ENST00000375530.4_Missense_Mutation_p.P617S Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 651 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 AACTGCCGAGGGTGGAAACGG 0.602000 128 646 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941120 22941120 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:22941120G>A ENST00000397104.3 - 5 1317 c.1318C>T c.(1318-1320)Cat>Tat p.H440Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H531Y zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTTCCAGTATGAATTATCTTA 0.343000 5 23 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52964456 52964456 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:52964456G>A ENST00000549343.1 - 5 1043 c.1005C>T c.(1003-1005)acC>acT p.T335T KRT74_ENST00000305620.2_Silent_p.T335T Q7RTS7 K2C74_HUMAN keratin 74 335 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TGACCACCTTGGTCTGGTACA 0.592000 13 16 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33468379 33468379 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:33468379G>A ENST00000379471.2 - 10 1335 c.1248C>T c.(1246-1248)ttC>ttT p.F416F NOL6_ENST00000455041.2_Silent_p.F356F|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 416 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGGAATCCAGGAAGACAACGG 0.577000 10 14 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736306 140736306 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:140736306C>T ENST00000571252.1 + 1 1539 c.1539C>T c.(1537-1539)atC>atT p.I513I PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACAGGGATCCTATATGCTC 0.522000 63 85 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545868 22545868 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:22545868C>T ENST00000424340.1 + 7 1843 c.1564C>T c.(1564-1566)Ctt>Ttt p.L522F NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.L522F NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 GCTCACTGCCCTTCCACCCTC 0.572000 32 270 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763361 5763361 + Silent SNP G G A rs149797529 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:5763361G>A ENST00000414202.2 + 19 2525 c.2334G>A c.(2332-2334)ccG>ccA p.P778P KIAA1432_ENST00000418622.3_Silent_p.P699P|KIAA1432_ENST00000251879.6_Silent_p.P778P|KIAA1432_ENST00000449720.2_Silent_p.P662P|KIAA1432_ENST00000381532.2_Silent_p.P699P NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 778 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) ACATTTACCCGCTAGCTGTTC 0.473000 165 16 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142741865 142741865 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:142741865C>T ENST00000473835.2 + 12 1279 c.1189C>T c.(1189-1191)Cct>Tct p.P397S U2SURP_ENST00000397933.2_Silent_p.L2L|U2SURP_ENST00000493598.2_Missense_Mutation_p.P396S NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 397 Pro-rich. RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 CCCTAATGCTCCTATGTTACC 0.423000 5 8 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095585 145095585 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:145095585C>T ENST00000377470.3 + 3 985 c.883C>T c.(883-885)Ccc>Tcc p.P295S SPATC1_ENST00000447830.2_Missense_Mutation_p.P295S NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 295 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACACCTGCTCCCAAGACGGC 0.657000 25 71 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158686990 158686990 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:158686990G>A ENST00000368146.1 - 1 963 c.964C>T c.(964-966)Ctt>Ttt p.L322F OR6K3_ENST00000368145.1_Missense_Mutation_p.L306F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) ACTTTTTGAAGACAGAACAGT 0.383000 69 91 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687808 11687808 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:11687808C>T ENST00000262442.3 + 41 8081 c.8013C>T c.(8011-8013)atC>atT p.I2671I DNAH9_ENST00000454412.2_Silent_p.I2671I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2671 AAA 3 (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) CCACAGGAATCAAATTCCACT 0.512000 79 81 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730346 96730346 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:96730346C>T ENST00000216629.6 + 3 933 c.327C>T c.(325-327)ctC>ctT p.L109L BDKRB1_ENST00000553356.1_Silent_p.L109L|RP11-404P21.3_ENST00000553638.1_RNA NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 109 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) GAGCCCTCCTCTGCCGTGTCA 0.567000 31 42 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74477560 74477560 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:74477560G>A ENST00000394019.2 - 17 1960 c.1563C>T c.(1561-1563)tcC>tcT p.S521S SLC4A5_ENST00000357822.5_Silent_p.S521S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.S521S|SLC4A5_ENST00000377632.1_Silent_p.S521S|SLC4A5_ENST00000377634.4_Silent_p.S521S|SLC4A5_ENST00000359484.4_Silent_p.S457S|SLC4A5_ENST00000346834.4_Silent_p.S521S|SLC4A5_ENST00000358683.4_Silent_p.S457S NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 521 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGGCAGAGATGGACTGAATGT 0.527000 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 114 84 0 0 1 0 0 GABRR3 200959 broad.mit.edu 37 3 97731241 97731241 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:97731241C>T ENST00000472788.1 - 0 478 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 TGATATTCTCCATAGTTGTAT 0.443000 25 23 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50052215 50052215 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:50052215C>T ENST00000376042.1 + 6 1344 c.1046C>T c.(1045-1047)tCa>tTa p.S349L CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S349L|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 349 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTGAAGAAATCATTGGCCTTG 0.433000 35 4 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813565 24813565 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:24813565A>G ENST00000376451.2 + 8 2079 c.1819A>G c.(1819-1821)Acc>Gcc p.T607A KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T607A|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T607A|KIAA1217_ENST00000376454.3_Missense_Mutation_p.T924A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T889A|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T607A|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T844A|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T889A Q5T5P2 SKT_HUMAN KIAA1217 924 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCAGGAAGCAACCTCCACTCT 0.602000 19 21 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582906 55582906 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:55582906G>A ENST00000361849.3 - 34 4980 c.4586C>T c.(4585-4587)cCc>cTc p.P1529L PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1504L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1524L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1487L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1527L|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1458L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_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 1527 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) CTTATAAAGGGGATTATGGGC 0.368000 HNSCC(58;0.16) 32 41 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374158 33374158 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:33374158C>T ENST00000428849.2 + 8 2172 c.1722C>T c.(1720-1722)ccC>ccT p.P574P NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 574 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity p.P574P(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GACTTGACCCCGGCTTAGCCC 0.642000 226 101 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48699262 48699262 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:48699262G>A ENST00000544264.1 - 1 1086 c.806C>T c.(805-807)cCc>cTc p.P269L CELSR3_ENST00000164024.4_Missense_Mutation_p.P269L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 269 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGCCGGCTCGGGAGCTGTCCG 0.741000 28 44 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42028727 42028727 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:42028727C>T ENST00000219905.7 + 13 4446 c.4265C>T c.(4264-4266)tCc>tTc p.S1422F MGA_ENST00000545763.1_Missense_Mutation_p.S1422F|MGA_ENST00000389936.4_Missense_Mutation_p.S1422F|MGA_ENST00000570161.1_Missense_Mutation_p.S1422F|MGA_ENST00000566586.1_Missense_Mutation_p.S1422F NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1422 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGTCCATTGTCCCCTGGGAAA 0.468000 22 25 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444036 82444036 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:82444036G>A ENST00000268206.7 - 18 2927 c.2759C>T c.(2758-2760)aCc>aTc p.T920I EFTUD1_ENST00000359445.3_Missense_Mutation_p.T869I NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 920 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 ACCAGAACAGGTTTCATTTTC 0.453000 5 111 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15106407 15106407 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:15106407G>A ENST00000378217.3 + 6 654 c.467G>A c.(466-468)gGa>gAa p.G156E OLAH_ENST00000378228.3_Missense_Mutation_p.G103E NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 103 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TTTAGTATGGGATCCTACATT 0.358000 13 30 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811623 23811623 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:23811623A>T ENST00000314520.3 + 1 1170 c.694A>T c.(694-696)Agg>Tgg p.R232W MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 232 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGAGACTGAGAGGAAGCAGAT 0.577000 19 22 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272861 28272861 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:28272861G>A ENST00000305242.5 - 6 822 c.730C>T c.(730-732)Cgt>Tgt p.R244C ARMC4_ENST00000239715.3_Missense_Mutation_p.R101C NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 244 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATTTCCCCACGAATTTGTCTC 0.403000 16 19 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860876 16860876 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:16860876G>A ENST00000524140.2 + 6 1841 c.1423G>A c.(1423-1425)Gtt>Att p.V475I NWD1_ENST00000552788.1_Missense_Mutation_p.V475I|NWD1_ENST00000523826.1_Missense_Mutation_p.V269I|NWD1_ENST00000379808.3_Missense_Mutation_p.V475I|NWD1_ENST00000339803.6_Missense_Mutation_p.V340I|NWD1_ENST00000549814.1_Missense_Mutation_p.V475I NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 475 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGCACTGGGGGTTTTGGACAC 0.642000 52 52 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94744970 94744970 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:94744970C>T ENST00000304338.3 + 25 2766 c.2612C>T c.(2611-2613)tCc>tTc p.S871F NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 871 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TCCAGAAAATCCAATCCTTAA 0.408000 10 7 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263725 140263725 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:140263725G>A ENST00000289272.2 + 1 1872 c.1872G>A c.(1870-1872)gtG>gtA p.V624V PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.V624V|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTCCGCGTGGGGCTGTACA 0.682000 39 57 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825533 26825533 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:26825533C>T ENST00000541819.2 - 7 885 c.783G>A c.(781-783)agG>agA p.R261R GABRB3_ENST00000311550.5_Silent_p.R205R|GABRB3_ENST00000299267.4_Silent_p.R205R|GABRB3_ENST00000545868.1_Silent_p.R120R|GABRB3_ENST00000400188.3_Silent_p.R134R P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 205 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGAGCTCAATCCTTTCCACTC 0.547000 29 44 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132207717 132207717 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:132207717C>T ENST00000360971.2 + 24 2480 c.2460C>T c.(2458-2460)atC>atT p.I820I NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 820 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GAAGAGTCATCCGTAACCAAG 0.333000 21 1 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380560 108380560 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:108380560C>T ENST00000265843.4 - 6 5784 c.5674G>A c.(5674-5676)Gaa>Aaa p.E1892K EXPH5_ENST00000443411.1_Missense_Mutation_p.E1704K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1885K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1816K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1892 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AACTGTTGTTCTTTCCCAAAG 0.398000 39 4 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180151404 180151404 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:180151404C>T ENST00000367602.3 + 6 776 c.702C>T c.(700-702)ttC>ttT p.F234F QSOX1_ENST00000367600.5_Silent_p.F234F O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 234 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCACCGACTTCCCCTCTTGCT 0.607000 64 131 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878301 165878301 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:165878301C>T ENST00000513876.2 + 1 202 c.127C>T c.(127-129)Cct>Tct p.P43S TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 43 TTCGGGTCTCCCTAACAGACC 0.642000 5 8 0 0 1 0 0 SCARNA2 677766 broad.mit.edu 37 1 109643093 109643093 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:109643093C>T ENST00000458748.1 + 0 279 NR_003023.1 GCAGCGAGGCCCCTTAGGCGG 0.672000 13 0 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18324247 18324247 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:18324247G>A ENST00000355502.3 - 17 2410 c.1539C>T c.(1537-1539)acC>acT p.T513T PDE4C_ENST00000447275.2_Silent_p.T407T|PDE4C_ENST00000262805.11_Silent_p.T481T|PDE4C_ENST00000594617.2_Silent_p.T513T|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.T513T|PDE4C_ENST00000539010.1_Silent_p.T282T Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 513 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TCTCCACCATGGTCTTGAGGT 0.607000 16 14 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6606657 6606657 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:6606657C>T ENST00000321612.6 - 5 798 c.648G>A c.(646-648)agG>agA p.R216R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 216 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GAAATTTCCTCCTCTTGTTGT 0.393000 42 9 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962649 69962649 + Missense_Mutation SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:69962649G>C ENST00000305231.7 + 1 457 c.411G>C c.(409-411)atG>atC p.M137I UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.M137I NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 137 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAAATTTATGAAAAAAGTAC 0.323000 23 24 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101362337 101362337 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:101362337G>A ENST00000344327.3 - 3 1502 c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C TRPC6_ENST00000532133.1_Missense_Mutation_p.R360C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R360C|TRPC6_ENST00000348423.4_Intron NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 360 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGATTTGGGCGACCGTGATCA 0.438000 59 10 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669854 24669854 + Silent SNP C C T rs41277414 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:24669854C>T ENST00000376454.3 + 3 441 c.411C>T c.(409-411)gtC>gtT p.V137V KIAA1217_ENST00000430453.2_Silent_p.V58V|KIAA1217_ENST00000376452.3_Silent_p.V137V|KIAA1217_ENST00000376462.1_Silent_p.V57V|KIAA1217_ENST00000458595.1_Silent_p.V137V NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 137 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTGACCCGGTCGAGCATTTAT 0.512000 29 35 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53585398 53585398 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:53585398C>T ENST00000267082.5 - 16 2570 c.2339G>A c.(2338-2340)aGt>aAt p.S780N ITGB7_ENST00000422257.3_Missense_Mutation_p.S780N|ITGB7_ENST00000338737.4_Missense_Mutation_p.S632N|ITGB7_ENST00000550743.2_Missense_Mutation_p.S632N NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 780 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CGTGATGGCACTTTTGTAGAG 0.498000 31 40 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117342593 117342593 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:117342593C>T ENST00000321322.6 - 15 3125 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E772K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 982 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCGGCCTCCTCAGTGCTGATG 0.582000 105 14 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763572 44763572 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:44763572C>T ENST00000296091.4 + 4 1519 c.1263C>T c.(1261-1263)tgC>tgT p.C421C ZNF502_ENST00000436624.2_Silent_p.C421C|ZNF502_ENST00000449836.1_Silent_p.C421C NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGAGCATTTGCCTTATTCGGC 0.438000 16 20 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52825180 52825180 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:52825180C>T ENST00000595962.1 + 5 743 c.677C>T c.(676-678)aCt>aTt p.T226I ZNF480_ENST00000335090.6_Missense_Mutation_p.T149I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.T183I NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GTAATCCATACTGTAGAGAAA 0.368000 32 27 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57302486 57302486 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:57302486G>A ENST00000288266.3 + 21 2101 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 652 PID. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) gcaacagaaagaactcaataa 0.308000 6 7 0 0 1 0 0 TMEM128 85013 broad.mit.edu 37 4 4248017 4248017 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:4248017G>A ENST00000254742.2 - 2 665 c.79C>T c.(79-81)Cat>Tat p.H27Y TMEM128_ENST00000540397.1_Missense_Mutation_p.H51Y|TMEM128_ENST00000538516.1_Missense_Mutation_p.H51Y|TMEM128_ENST00000382753.4_Missense_Mutation_p.H51Y NM_032927.2 NP_116316.1 Q5BJH2 TM128_HUMAN transmembrane protein 128 51 integral to membrane endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) AATCCAGAATGGATATTAAGT 0.358000 27 28 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964349 109964349 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:109964349T>C ENST00000309415.6 + 2 793 c.793T>C c.(793-795)Tat>Cat p.Y265H NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 265 SH3 2. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 AAAAGCACTTTATGATTTCGA 0.607000 8 14 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108642007 108642007 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:108642007G>A ENST00000332082.4 + 10 2403 c.1585G>A c.(1585-1587)Gac>Aac p.D529N WSCD2_ENST00000547525.1_Missense_Mutation_p.D529N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D549N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D549N Q2TBF2 WSCD2_HUMAN WSC domain containing 2 529 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCTCGAGTATGACCCCTATAC 0.592000 31 27 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17999160 17999160 + Missense_Mutation SNP G G A rs145168559 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:17999160G>A ENST00000222248.3 + 13 1894 c.1547G>A c.(1546-1548)cGa>cAa p.R516Q NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 516 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GACGCCAGCCGACCCGCCTTA 0.577000 37 73 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118701 194118701 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:194118701C>T ENST00000401815.1 - 1 382 c.311G>A c.(310-312)aGg>aAg p.R104K GP5_ENST00000323007.3_Missense_Mutation_p.R104K P40197 GPV_HUMAN glycoprotein V (platelet) 104 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCGCGACAGCCTCAGGGTTTT 0.557000 37 82 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948633 7948633 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:7948633C>T ENST00000380183.4 + 7 1066 c.927C>T c.(925-927)ttC>ttT p.F309F ALOX15B_ENST00000380173.2_Silent_p.F309F|ALOX15B_ENST00000573359.1_Silent_p.F309F|ALOX15B_ENST00000572022.1_Silent_p.F309F NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 309 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 AGCCTCAGTTCTCTGCGGCCC 0.602000 34 31 0 0 1 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74531550 74531550 + Missense_Mutation SNP C C G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:74531550C>G ENST00000553458.1 - 11 1576 c.1478G>C c.(1477-1479)gGa>gCa p.G493A AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.G480A|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.G210A|CCDC176_ENST00000553773.1_Intron NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 493 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) ATTGGTGTCTCCCCTGAAGGA 0.403000 15 17 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100482740 100482740 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:100482740G>A ENST00000279907.7 - 8 1186 c.974C>T c.(973-975)tCt>tTt p.S325F UHRF1BP1L_ENST00000545232.2_5'UTR|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S325F NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 325 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 ATCTAGATGAGAAATCACTAA 0.308000 14 16 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172579019 172579019 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:172579019C>T ENST00000367723.3 + 23 3965 c.3841C>T c.(3841-3843)Ccc>Tcc p.P1281S SUCO_ENST00000263688.3_Missense_Mutation_p.P1129S NM_016227.2 NP_057311.2 SUN domain containing ossification factor ACCATTGCACCCCATAGCCAA 0.373000 22 67 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10586508 10586508 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:10586508C>T ENST00000265012.4 + 1 530 c.286C>T c.(286-288)Cct>Tct p.P96S GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 96 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GGCTGCATTCCCTTTGGCCTA 0.453000 28 84 0 0 1 0 0 FGF10 2255 broad.mit.edu 37 5 44305163 44305163 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:44305163C>T ENST00000264664.4 - 3 675 c.561G>A c.(559-561)agG>agA p.R187R NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 187 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) TCTGTCCTCTCCTTGGAGCTC 0.433000 47 68 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25916990 25916990 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:25916990G>A ENST00000377850.3 - 8 1377 c.853C>T c.(853-855)Cat>Tat p.H285Y SLC17A2_ENST00000360488.3_Missense_Mutation_p.H285Y|SLC17A2_ENST00000265425.3_Missense_Mutation_p.H285Y O00624 NPT3_HUMAN solute carrier family 17, member 2 285 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 AACCAGAAATGGCTGAAAAAA 0.448000 46 77 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90002069 90002069 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:90002069C>T ENST00000405460.2 + 38 8684 c.8588C>T c.(8587-8589)aCc>aTc p.T2863I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2863 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTCACATATACCACGGTTCCT 0.348000 16 9 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452473 10452473 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:10452473C>T ENST00000397077.1 - 5 801 c.226G>A c.(226-228)Gaa>Aaa p.E76K ATP2B2_ENST00000383800.4_Missense_Mutation_p.E76K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E76K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E76K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E76K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 76 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TTTCTCTTTTCCAGGTCTGGA 0.547000 123 134 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147688 100147688 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:100147688G>A ENST00000231461.5 - 5 1253 c.943C>T c.(943-945)Cat>Tat p.H315Y NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 315 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCATAATAATGATATTTGACC 0.358000 10 19 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95001390 95001390 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:95001390G>A ENST00000357742.4 + 19 2275 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K MCTP2_ENST00000451018.3_Missense_Mutation_p.E704K NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 759 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GGGGTTGATTGAAAGAATCTA 0.299000 17 14 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48595627 48595627 + Silent SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:48595627A>T ENST00000262384.3 - 2 1163 c.927T>A c.(925-927)atT>atA p.I309I RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 309 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) CATCGTGTAAAATCTCCCCCT 0.363000 40 72 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237732446 237732446 + Splice_Site SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:237732446C>A ENST00000366574.2 + 29 3742 c.3423_splice c.e29-1 p.A1142_splice RYR2_ENST00000542537.1_Splice_Site_p.A1126_splice|RYR2_ENST00000360064.6_Splice_Site_p.A1140_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1142 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A1140D(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTGTATAGGCCCAGCGGTGG 0.527000 5 46 1.23904e-05 1.24538e-05 1 1 0 UGT1A1 54658 broad.mit.edu 37 2 234669287 234669287 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:234669287G>A ENST00000360418.3 + 1 354 c.354G>A c.(352-354)aaG>aaA p.K118K UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.K118K|UGT1A8_ENST00000373450.4_Intron P22309 UD11_HUMAN 118 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AAATAAAAAAGGACTCTGCTA 0.448000 34 57 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237755070 237755070 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:237755070A>C ENST00000366574.2 + 32 4509 c.4192A>C c.(4192-4194)Agc>Cgc p.S1398R RYR2_ENST00000542537.1_Missense_Mutation_p.S1382R|RYR2_ENST00000360064.6_Missense_Mutation_p.S1396R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1398 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCAGATTACAGCACAAGCCA 0.388000 9 12 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36656027 36656027 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:36656027G>A ENST00000431169.1 - 11 1105 c.805C>T c.(805-807)Cac>Tac p.H269Y AOAH_ENST00000535891.1_Missense_Mutation_p.H237Y|AOAH_ENST00000258749.5_Missense_Mutation_p.H269Y NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 269 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GGAGAGATGTGAAAATGAGCC 0.433000 14 6 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36896895 36896895 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:36896895G>A ENST00000301807.6 - 12 4433 c.2536C>T c.(2536-2538)Caa>Taa p.Q846* TRANK1_ENST00000429976.2_Nonsense_Mutation_p.Q1396*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q846* NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1396 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GTAAAGTCTTGAATCTCATCA 0.522000 65 142 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247599273 247599273 + Splice_Site SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:247599273T>C ENST00000336119.3 + 6 3246 c.2498_splice c.e6-1 p.L834_splice NLRP3_ENST00000391827.2_Splice_Site_p.L777_splice|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Splice_Site_p.L834_splice|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron NM_001127462.2|NM_001243133.1|NM_004895.4 NP_001120934.1|NP_001230062.1|NP_004886.3 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 834 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTATGGAAGGTTGGTCAGCTG 0.527000 36 62 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10570295 10570295 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:10570295C>T ENST00000380702.2 + 11 1159 c.1159C>T c.(1159-1161)Cgc>Tgc p.R387C PDE4A_ENST00000440014.2_Missense_Mutation_p.R348C|PDE4A_ENST00000344979.3_Missense_Mutation_p.R170C|PDE4A_ENST00000592685.1_Missense_Mutation_p.R387C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R383C|PDE4A_ENST00000352831.6_Missense_Mutation_p.R409C P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 409 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GAAGAAATTCCGCATCCCTGT 0.637000 21 15 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102792980 102792980 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:102792980G>A ENST00000410023.1 + 12 1789 c.1471G>A c.(1471-1473)Gag>Aag p.E491K IL1R1_ENST00000409929.1_Missense_Mutation_p.E460K|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.E491K|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron P14778 IL1R1_HUMAN interleukin 1 receptor, type I 491 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GCTTGAGCTGGAGAAAATCCA 0.443000 12 24 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62212314 62212314 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:62212314G>A ENST00000261517.5 - 57 7502 c.7429C>T c.(7429-7431)Cta>Tta p.L2477L VPS13C_ENST00000395896.4_Silent_p.L2477L|VPS13C_ENST00000249837.3_Silent_p.L2434L|VPS13C_ENST00000395898.3_Silent_p.L2434L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2477 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AATATAGATAGGTTCCCTTGA 0.433000 23 34 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99605676 99605676 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:99605676G>T ENST00000373034.4 - 4 4318 c.2643C>A c.(2641-2643)aaC>aaA p.N881K PCDH19_ENST00000420881.2_Missense_Mutation_p.N834K|PCDH19_ENST00000255531.7_Missense_Mutation_p.N834K NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 881 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TATTCACGTAGTTGGAGTCAA 0.338000 13 1 3.03607e-14 3.0768e-14 1 1 0 IQGAP3 128239 broad.mit.edu 37 1 156526411 156526411 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:156526411A>G ENST00000361170.2 - 12 1214 c.1204T>C c.(1204-1206)Tgc>Cgc p.C402R NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 402 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTCAGGGCACATCAGCTCC 0.602000 22 41 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33409464 33409464 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:33409464C>T ENST00000418600.2 + 13 2323 c.2222C>T c.(2221-2223)cCc>cTc p.P741L SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P741L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P682L NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 741 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 AGTGAGCGGCCCCGGCCTCAG 0.647000 7 93 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448624 52448624 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:52448624A>T ENST00000293471.6 + 6 2167 c.1488A>T c.(1486-1488)aaA>aaT p.K496N ZNF613_ENST00000391794.4_Missense_Mutation_p.K460N|ZNF613_ENST00000601794.1_3'UTR NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCAGAGATAAATCATGTCTCA 0.453000 17 24 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881835 69881835 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:69881835C>T ENST00000358913.5 + 2 1128 c.640C>T c.(640-642)Cct>Tct p.P214S MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P214S|MYPN_ENST00000373675.3_Missense_Mutation_p.P214S NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 214 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TGTTCCCATCCCTATCCCTGC 0.507000 19 17 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741394 156741394 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:156741394G>A ENST00000347377.6 + 12 1584 c.1153G>A c.(1153-1155)Gag>Aag p.E385K CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E310K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E59K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E189K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E385K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E385K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E359K NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 385 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCAGACGAGGAGTATCGCGA 0.567000 83 95 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187516857 187516857 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:187516857G>A ENST00000441802.2 - 26 13333 c.13124C>T c.(13123-13125)tCg>tTg p.S4375L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4375 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTCATCGCACGATTCGGACTG 0.512000 HNSCC(5;0.00058) 35 39 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65682665 65682665 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:65682665G>A ENST00000352385.2 - 13 2445 c.2236C>T c.(2236-2238)Cag>Tag p.Q746* NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 746 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGTCCCCTCTGGATAGGCATG 0.498000 12 18 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81791270 81791270 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:81791270C>T ENST00000358105.3 + 4 506 c.457C>T c.(457-459)Cca>Tca p.P153S C4orf22_ENST00000508675.1_Missense_Mutation_p.P170S NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 153 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AAGACTTCTTCCAAGGCCTAC 0.373000 31 31 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155314037 155314037 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:155314037C>T ENST00000460012.1 - 3 477 c.120G>A c.(118-120)aaG>aaA p.K40K PLCH1_ENST00000340059.7_Silent_p.K58K|PLCH1_ENST00000494598.1_Silent_p.K58K|PLCH1_ENST00000334686.6_Silent_p.K40K|PLCH1_ENST00000447496.2_Silent_p.K58K|PLCH1_ENST00000414191.1_Silent_p.K40K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 58 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTCTCACTCTTCCTAGAGG 0.483000 121 97 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361686 105361686 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:105361686C>T ENST00000297581.2 + 2 955 c.906C>T c.(904-906)atC>atT p.I302I DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 302 osteoclast differentiation cell surface|integral to membrane|plasma membrane CCATACTTATCCATCTCTGCA 0.468000 95 184 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667298 72667298 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:72667298G>A ENST00000373514.2 + 1 209 c.209G>A c.(208-210)gGa>gAa p.G70E NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 70 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CCGTCTCTGGGAGTCTGGGGC 0.597000 9 9 0 0 1 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234618 26234618 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:26234618G>A ENST00000244534.5 - 1 598 c.544C>T c.(544-546)Cag>Tag p.Q182* NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 182 nucleosome assembly nucleosome|nucleus DNA binding p.Q182*(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TTTTTTGGCTGAGGTGTTTTC 0.502000 42 274 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202715368 202715368 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:202715368G>A ENST00000367265.3 - 15 3264 c.2100C>T c.(2098-2100)ttC>ttT p.F700F KDM5B_ENST00000367264.2_Silent_p.F736F NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 700 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TGGCAGACATGAAGCATGTAG 0.393000 43 55 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15469802 15469802 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:15469802C>T ENST00000269701.2 - 13 1659 c.1599G>A c.(1597-1599)gtG>gtA p.V533V NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 533 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CCAGCATCTTCACTATATGTC 0.438000 31 62 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164737452 164737452 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:164737452C>T ENST00000264382.3 - 28 3423 c.3361G>A c.(3361-3363)Gca>Aca p.A1121T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1121 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CGCTTAAATGCTGTATGTTCC 0.438000 HNSCC(35;0.089) 43 32 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789585 48789585 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:48789585C>T ENST00000595607.1 + 6 1198 c.704C>T c.(703-705)tCc>tTc p.S235F ZNF114_ENST00000600687.1_Missense_Mutation_p.S235F|ZNF114_ENST00000597695.1_Missense_Mutation_p.S201F|ZNF114_ENST00000315849.1_Missense_Mutation_p.S235F Q8NC26 ZN114_HUMAN zinc finger protein 114 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) GAAGACGGATCCCTTAGGGCA 0.473000 25 78 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122399901 122399901 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:122399901C>T ENST00000474629.2 + 1 437 c.171C>T c.(169-171)ttC>ttT p.F57F NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TCCTGGTGTTCTTCTACCCGG 0.672000 17 40 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160718131 160718131 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:160718131G>A ENST00000368043.3 + 2 240 c.203G>A c.(202-204)gGc>gAc p.G68D SLAMF7_ENST00000444090.2_Missense_Mutation_p.G68D|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.G68D|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000441662.2_Missense_Mutation_p.G68D|SLAMF7_ENST00000368042.3_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 68 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCAGAAGGGGGCACTATCATA 0.498000 24 41 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98256641 98256641 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:98256641C>T ENST00000265634.3 + 4 1218 c.1053C>T c.(1051-1053)atC>atT p.I351I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 351 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCGTGCTGATCCTTGGACAAG 0.672000 4 31 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51769459 51769459 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:51769459C>T ENST00000374056.4 + 7 1903 c.1505C>T c.(1504-1506)cCa>cTa p.P502L AGAP6_ENST00000412531.3_Missense_Mutation_p.P525L C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 525 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 GATGACTGGCCAGTTGAGCTC 0.527000 91 82 0 0 1 0 0 ACTL6A 86 broad.mit.edu 37 3 179292229 179292229 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:179292229C>T ENST00000429709.2 + 5 663 c.450C>T c.(448-450)ttC>ttT p.F150F ACTL6A_ENST00000392662.1_Silent_p.F108F|ACTL6A_ENST00000450518.2_Silent_p.F108F NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 150 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) CTGCCTTCTTCCTTTGCAAAA 0.388000 90 80 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794791 237794791 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:237794791G>A ENST00000366574.2 + 42 6822 c.6505G>A c.(6505-6507)Gag>Aag p.E2169K RYR2_ENST00000542537.1_Missense_Mutation_p.E2153K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2167K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2169 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E2167*(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGGATGCACGAGACTGTGAT 0.458000 8 37 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3477212 3477212 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:3477212G>A ENST00000174621.6 - 12 2101 c.1812C>T c.(1810-1812)tcC>tcT p.S604S SHPK_ENST00000572705.1_Silent_p.S606S|TRPV1_ENST00000310522.5_Silent_p.S546S|TRPV1_ENST00000399759.3_Silent_p.S606S|TRPV1_ENST00000571088.1_Silent_p.S606S|TRPV1_ENST00000399756.4_Silent_p.S606S|TRPV1_ENST00000425167.2_Silent_p.S617S|TRPV1_ENST00000576351.1_Silent_p.S596S Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 606 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CAGACGGCAGGGAGTCATTCT 0.622000 7 13 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813131 2813131 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:2813131C>T ENST00000602557.1 - 65 10532 c.9977G>A c.(9976-9978)gGa>gAa p.G3326E CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3326 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGCGACTTTCCTGTCCATTT 0.488000 38 30 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17722261 17722261 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:17722261C>T ENST00000398056.2 - 10 1595 c.e10-1 FGL1_ENST00000381841.2_Splice_Site|FGL1_ENST00000522444.1_Splice_Site|FGL1_ENST00000381840.2_Splice_Site|FGL1_ENST00000518650.1_Splice_Site|FGL1_ENST00000427924.1_Splice_Site|FGL1_ENST00000398054.1_Splice_Site Q08830 FGL1_HUMAN fibrinogen-like 1 signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) AGAGTGACACCTAGTGGAAGG 0.403000 5 18 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175116109 175116109 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:175116109C>T ENST00000239462.4 + 19 3915 c.3802C>T c.(3802-3804)Cct>Tct p.P1268S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1268 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTCTCCATTCCTTACGTGGA 0.517000 OREG0013992 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 46 0 0 1 0 0 COL10A1 1300 broad.mit.edu 37 6 116442622 116442622 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:116442622C>T ENST00000327673.4 - 2 1064 c.657G>A c.(655-657)gtG>gtA p.V219V AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.V219V Q03692 COAA1_HUMAN collagen, type X, alpha 1 219 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CTCTTTTTCCCACTCCAGGAG 0.572000 28 3 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25770660 25770660 + Missense_Mutation SNP C C T rs140215842 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:25770660C>T ENST00000377905.4 + 5 699 c.580C>T c.(580-582)Cca>Tca p.P194S SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 194 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATGGGCTCCCCCACTGGAAAG 0.463000 33 246 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18968229 18968229 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:18968229T>G ENST00000262803.5 + 15 2341 c.2069T>G c.(2068-2070)gTg>gGg p.V690G UPF1_ENST00000599848.1_Missense_Mutation_p.V701G NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 701 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CGCCTGGTGGTGCTGGGCATC 0.637000 18 41 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962926 69962926 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:69962926A>G ENST00000305231.7 + 1 734 c.688A>G c.(688-690)Aag>Gag p.K230E UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.K230E NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 230 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTTGACATGAAGAAGTGGGA 0.313000 11 32 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100175416 100175416 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:100175416G>A ENST00000317233.4 - 21 3441 c.3206C>T c.(3205-3207)gCc>gTc p.A1069V AFF3_ENST00000409579.1_Missense_Mutation_p.A1094V|AFF3_ENST00000356421.2_Missense_Mutation_p.A1094V|AFF3_ENST00000409236.1_Missense_Mutation_p.A1069V NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1069 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GTACAGGAGGGCCAGGCATCG 0.468000 OREG0014830 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 24 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756191 183756191 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:183756191C>T ENST00000382489.3 + 7 914 c.914C>T c.(913-915)cCt>cTt p.P305L HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Intron|HTR3D_ENST00000334128.2_Intron NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 305 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity p.P305L(1)|p.?(1) large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACCCCCTTGCCTGCAGGTGTC 0.582000 32 34 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633874 70633874 + Silent SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:70633874C>A ENST00000381269.2 - 2 2019 c.1266G>T c.(1264-1266)ggG>ggT p.G422G SLC8A3_ENST00000534137.1_Silent_p.G422G|SLC8A3_ENST00000356921.2_Silent_p.G422G|SLC8A3_ENST00000357887.3_Silent_p.G422G|SLC8A3_ENST00000528359.1_Silent_p.G422G NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 422 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACATGTCTCCCCCTTTCCTCA 0.502000 4 103 0.184627 0.184816 1 1 0 AIRE 326 broad.mit.edu 37 21 45716284 45716284 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:45716284G>A ENST00000291582.5 + 13 1649 c.1522G>A c.(1522-1524)Gag>Aag p.E508K AIRE_ENST00000355347.4_Missense_Mutation_p.E301K|AIRE_ENST00000329347.4_3'UTR NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 508 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TGCCAGTCACGAGCCCGCTCT 0.662000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 29 71 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77896788 77896788 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:77896788G>A ENST00000302536.2 + 4 875 c.e4+1 VAT1L_ENST00000563850.1_Splice_Site NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 AAGTTAAAAGGTAAGATGTTT 0.408000 34 27 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028647 100028647 + Silent SNP C C T rs140364891 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:100028647C>T ENST00000310512.2 + 1 1394 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 336 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCATCTGCTCTGCAGGGTCC 0.612000 123 40 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842289 28842289 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:28842289C>T ENST00000336783.4 + 10 1384 c.1217C>T c.(1216-1218)tCc>tTc p.S406F ATXN2L_ENST00000340394.8_Missense_Mutation_p.S406F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S406F|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S406F|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S406F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S406F|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S406F NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 406 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACAGGCCCTTCCCGCATGTCC 0.498000 10 9 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207640050 207640050 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:207640050C>T ENST00000367057.3 + 2 427 c.238C>T c.(238-240)Cct>Tct p.P80S CR2_ENST00000458541.2_Missense_Mutation_p.P80S|CR2_ENST00000367058.3_Missense_Mutation_p.P80S|CR2_ENST00000367059.3_Missense_Mutation_p.P80S NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 80 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TAAACCTGCTCCTAAATGTGA 0.403000 35 50 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57707357 57707357 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:57707357C>T ENST00000333493.4 + 2 344 c.183C>T c.(181-183)tcC>tcT p.S61S GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_5'UTR NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 61 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCAGCGACTCCTGCAATGTGG 0.557000 28 62 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207619954 207619954 + Missense_Mutation SNP C C T rs138333507 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:207619954C>T ENST00000374412.3 - 5 964 c.689G>A c.(688-690)cGa>cAa p.R230Q MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R230Q|MDH1B_ENST00000449792.1_Missense_Mutation_p.R132Q NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 230 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CACCCTGCTTCGGAGGCAGTC 0.552000 35 28 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278170 7278170 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:7278170G>T ENST00000436587.2 + 3 728 c.505G>T c.(505-507)Gat>Tat p.D169Y C1GALT1_ENST00000402468.3_Missense_Mutation_p.D169Y|C1GALT1_ENST00000223122.2_Missense_Mutation_p.D169Y NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 169 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TTTGAAAGCAGATGATGACAC 0.353000 8 35 5.4927e-09 5.52647e-09 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70977779 70977779 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:70977779G>A ENST00000393567.2 - 42 6755 c.6605C>T c.(6604-6606)aCc>aTc p.T2202I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2202 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CATCAGCCCGGTCTCGCCTCC 0.617000 18 15 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184021162 184021162 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:184021162C>T ENST00000310118.4 + 9 1682 c.1124C>T c.(1123-1125)tCt>tTt p.S375F PSMD2_ENST00000439383.1_Missense_Mutation_p.S245F|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.S216F NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 375 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTGGCCTCCTCTTTTGTGAAT 0.488000 55 53 0 0 1 0 0 GMFG 9535 broad.mit.edu 37 19 39819629 39819629 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:39819629C>T ENST00000598034.1 - 6 397 c.368G>A c.(367-369)gGg>gAg p.G123E GMFG_ENST00000600322.1_Intron|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000253054.8_Intron|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000597595.1_Intron|GMFG_ENST00000601387.1_Intron O60234 GMFG_HUMAN glia maturation factor, gamma 123 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GAGCCCCATCCCAGTCTGAAC 0.522000 20 44 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196953100 196953100 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:196953100C>T ENST00000367414.5 + 3 391 c.335C>T c.(334-336)tCc>tTc p.S112F CFHR5_ENST00000256785.4_Missense_Mutation_p.S88F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 88 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GGAATGTGTTCCTTTCCTTTT 0.308000 25 22 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2122932 2122932 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:2122932C>T ENST00000219476.3 + 21 2933 c.2303C>T c.(2302-2304)cCa>cTa p.P768L TSC2_ENST00000568454.1_Missense_Mutation_p.P779L|TSC2_ENST00000382538.6_Missense_Mutation_p.P719L|TSC2_ENST00000439673.2_Missense_Mutation_p.P731L|TSC2_ENST00000353929.4_Missense_Mutation_p.P768L|TSC2_ENST00000350773.4_Missense_Mutation_p.P768L|TSC2_ENST00000401874.2_Missense_Mutation_p.P768L NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 768 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GCCGTGGTTCCAGTGCTGACA 0.557000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 35 61 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26181399 26181399 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:26181399G>A ENST00000335473.7 + 11 2567 c.2317G>A c.(2317-2319)Gag>Aag p.E773K MYO18B_ENST00000407587.2_Missense_Mutation_p.E773K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E773K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 773 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCCAGGACGGAGCTGAACCT 0.612000 21 2 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212537960 212537960 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:212537960C>T ENST00000342788.4 - 14 1955 c.1645G>A c.(1645-1647)Ggc>Agc p.G549S ERBB4_ENST00000436443.1_Missense_Mutation_p.G549S|ERBB4_ENST00000402597.1_Missense_Mutation_p.G549S NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 549 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGATGGAGCCATTCTCAAAC 0.473000 TSP Lung(8;0.080) 32 57 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16456057 16456057 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:16456057G>A ENST00000395824.1 - 6 2016 c.1399C>T c.(1399-1401)Ctt>Ttt p.L467F ZNF287_ENST00000395825.3_Missense_Mutation_p.L467F Q9HBT7 ZN287_HUMAN zinc finger protein 287 460 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TGGATGGTAAGGTGTGCACGC 0.423000 33 40 0 0 1 0 0 MCMBP 79892 broad.mit.edu 37 10 121612602 121612602 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:121612602G>A ENST00000360003.3 - 6 703 c.534C>T c.(532-534)ccC>ccT p.P178P MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.P178P NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 178 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding p.P178P(1) breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TCTGCTTATTGGGCTGTAGGT 0.458000 75 119 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56755209 56755209 + Missense_Mutation SNP G G C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:56755209G>C ENST00000267460.4 + 4 650 c.364G>C c.(364-366)Ggc>Cgc p.G122R NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 122 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 CACGATTTCTGGCAGCCAGAA 0.498000 5 16 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230105 21230105 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:21230105C>T ENST00000233242.1 - 26 9762 c.9635G>A c.(9634-9636)aGa>aAa p.R3212K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3212 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCATTGTTTCTGTTTTTTTC 0.363000 165 312 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607007 84607007 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:84607007C>T ENST00000344803.2 + 4 1669 c.1622C>T c.(1621-1623)tCc>tTc p.S541F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACATCTATATCCCATGAATCC 0.502000 42 35 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26046004 26046004 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:26046004C>T ENST00000540144.1 + 1 366 c.366C>T c.(364-366)ccC>ccT p.P122P NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 122 P -> L (in Ref. 13; AAH66884). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 CCATCATGCCCAAAGATATCC 0.537000 22 72 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120603 193120603 + Silent SNP G G A rs117452828 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:193120603G>A ENST00000342695.4 - 30 3751 c.3429C>T c.(3427-3429)ttC>ttT p.F1143F ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Silent_p.F159F|ATP13A4_ENST00000392443.3_Silent_p.F1124F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1143 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ACTGATAGCCGAAACATCTTT 0.443000 12 38 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127915925 127915925 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:127915925G>A ENST00000451402.1 - 7 887 c.667C>T c.(667-669)Cct>Tct p.P223S PPP6C_ENST00000415905.1_Missense_Mutation_p.P164S|PPP6C_ENST00000373546.3_Missense_Mutation_p.P39S|PPP6C_ENST00000373547.4_Missense_Mutation_p.P186S NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 186 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 CCTTTATGAGGAATTTCCTGA 0.433000 26 6 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149240891 149240891 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:149240891C>T ENST00000407073.1 + 10 3728 c.2731C>T c.(2731-2733)Cca>Tca p.P911S MBD5_ENST00000404807.1_Missense_Mutation_p.P911S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 911 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAACCATCTTCCACACCCCTT 0.478000 127 104 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68615584 68615584 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:68615584C>T ENST00000234313.7 + 6 902 c.723C>T c.(721-723)ttC>ttT p.F241F NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 241 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AAGAAGAATTCAGAGGGGTCA 0.433000 36 88 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15215752 15215752 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:15215752G>T ENST00000395930.1 - 7 1111 c.925C>A c.(925-927)Ctc>Atc p.L309I TEKT3_ENST00000338696.2_Missense_Mutation_p.L309I NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 309 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGGGAGCGGAGAATATTGTCA 0.463000 21 34 2.39556e-15 2.43021e-15 1 1 0 SPO11 23626 broad.mit.edu 37 20 55918423 55918423 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:55918423G>A ENST00000371263.3 + 13 1207 c.1098G>A c.(1096-1098)atG>atA p.M366I SPO11_ENST00000371260.4_Missense_Mutation_p.M324I|SPO11_ENST00000345868.4_Missense_Mutation_p.M328I NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 366 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) ACTCTAAAATGAAGGCAGAAA 0.308000 Editing and processing nucleases 26 45 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49455970 49455970 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:49455970C>T ENST00000376150.3 - 4 306 c.174G>A c.(172-174)gaG>gaA p.E58E NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 58 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) CAGCTTCAGGCTCCTGCCCTT 0.393000 12 5 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239040160 239040160 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:239040160G>A ENST00000343063.3 + 9 3068 c.2805G>A c.(2803-2805)tgG>tgA p.W935* ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Nonsense_Mutation_p.W891*|ESPNL_ENST00000409506.1_Nonsense_Mutation_p.W567* NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 935 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTCCCGCCTGGGATACGGAGC 0.726000 11 17 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673881 120673881 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:120673881G>A ENST00000273666.6 + 3 555 c.284G>A c.(283-285)cGa>cAa p.R95Q STXBP5L_ENST00000472879.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R95Q NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 95 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGTGCTATACGAATGTATCCT 0.358000 28 21 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12383432 12383432 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:12383432G>A ENST00000356109.5 - 5 1900 c.1782C>T c.(1780-1782)ttC>ttT p.F594F ZNF44_ENST00000355684.5_Silent_p.F546F NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) GTCTTAGAAGGAAAGAGGGCC 0.418000 12 10 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228554256 228554256 + Silent SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:228554256G>T ENST00000570156.2 + 95 22277 c.22203G>T c.(22201-22203)ctG>ctT p.L7401L OBSCN_ENST00000366707.4_Silent_p.L4078L|OBSCN_ENST00000422127.1_Silent_p.L6444L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6444 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGCAGAGCTGCTGGTGCTTG 0.637000 32 44 4.65686e-17 4.734e-17 1 1 0 SAMD4B 55095 broad.mit.edu 37 19 39870640 39870640 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:39870640C>T ENST00000314471.6 + 12 2600 c.1565C>T c.(1564-1566)tCc>tTc p.S522F SAMD4B_ENST00000598913.1_Missense_Mutation_p.S522F|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 522 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGGCTGCTATCCTGGAAACAG 0.572000 20 39 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101383 168101383 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:168101383G>A ENST00000409195.1 + 9 3570 c.3481G>A c.(3481-3483)Gat>Aat p.D1161N XIRP2_ENST00000409273.1_Missense_Mutation_p.D939N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1161N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 986 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 CCAAGGTGGGGATGTTCGTAC 0.398000 13 43 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41000800 41000800 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:41000800G>A ENST00000399564.4 - 38 4780 c.4330C>T c.(4330-4332)Ccc>Tcc p.P1444S MROH2B_ENST00000506092.2_Missense_Mutation_p.P999S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTGGGGTTGGGATCCCAAAGG 0.483000 7 12 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141460946 141460946 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:141460946G>A ENST00000389328.4 - 2 835 c.821C>T c.(820-822)cCc>cTc p.P274L TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P176L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P176L NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 176 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 ACAGAGAAGGGGGATCTTATC 0.532000 6 24 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999732 160999732 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:160999732G>A ENST00000447678.1 - 28 4414 c.4294C>T c.(4294-4296)Ctg>Ttg p.L1432L LPA_ENST00000316300.5_Silent_p.L1432L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3940 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTCCTGGTCAGGCCACTGCAA 0.483000 32 6 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166015 71166015 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:71166015A>G ENST00000357585.2 + 2 926 c.557A>G c.(556-558)aAc>aGc p.N186S RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.N186S NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 186 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CTCCGGAGCAACCAGTGGGGG 0.557000 30 36 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462682 5462682 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:5462682C>T ENST00000345221.3 - 4 1888 c.1334G>A c.(1333-1335)gGg>gAg p.G445E NLRP1_ENST00000354411.3_Missense_Mutation_p.G445E|NLRP1_ENST00000572272.1_Missense_Mutation_p.G445E|NLRP1_ENST00000262467.5_Missense_Mutation_p.G445E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.G445E|NLRP1_ENST00000577119.1_Missense_Mutation_p.G445E NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 445 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TATAGTTTTCCCCAGCAAACT 0.582000 9 14 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139740342 139740342 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:139740342T>C ENST00000230993.6 + 2 283 c.248T>C c.(247-249)cTc>cCc p.L83P SLC4A9_ENST00000507527.1_Missense_Mutation_p.L83P|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000506757.2_Intron|SLC4A9_ENST00000432095.2_Intron NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 83 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCTCTGCTCCTGGACATG 0.582000 7 12 0 0 1 0 0 DEFB118 117285 broad.mit.edu 37 20 29960810 29960810 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:29960810C>T ENST00000253381.2 + 2 242 c.209C>T c.(208-210)cCc>cTc p.P70L NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 70 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GCGACATCTCCCACACCCTTG 0.423000 44 35 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71494436 71494436 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:71494436G>A ENST00000296755.7 + 5 5552 c.5254G>A c.(5254-5256)Gat>Aat p.D1752N NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1752 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TACTCTATCCGATGTTGCTCC 0.483000 59 62 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53646604 53646604 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:53646604C>T ENST00000534842.1 + 2 453 c.306C>T c.(304-306)gtC>gtT p.V102V MFSD5_ENST00000329548.4_5'UTR NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 0 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CTTCCCAGGTCGTCCGGGGGC 0.627000 19 32 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111049 114111049 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:114111049C>T ENST00000297405.5 - 5 1097 c.853G>A c.(853-855)Gat>Aat p.D285N CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.D285N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D245N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D285N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 285 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTTGAAAATCAGTAAATATG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 30 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506974 74506974 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:74506974C>T ENST00000354431.4 - 7 1832 c.1641G>A c.(1639-1641)gaG>gaA p.E547E LRRIQ3_ENST00000395089.1_Silent_p.E547E NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 547 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TCAGGCTTTTCTCTTTTAGGA 0.308000 42 8 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49272580 49272580 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:49272580G>A ENST00000586178.1 - 13 1710 c.1367C>T c.(1366-1368)cCc>cTc p.P456L MBTD1_ENST00000415868.1_Missense_Mutation_p.P456L|MBTD1_ENST00000376381.2_Intron NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 456 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) AGTACCTCTGGGTGGAGTAAG 0.393000 10 8 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409674 159409674 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:159409674C>T ENST00000423932.3 + 1 163 c.126C>T c.(124-126)ttC>ttT p.F42F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 42 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTGGCGTGTTCCTTGCACTAT 0.423000 94 103 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163329 32163329 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32163329G>A ENST00000375023.3 - 30 6035 c.5897C>T c.(5896-5898)cCg>cTg p.P1966L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1966 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGGCGGGATCGGAATGTTGGA 0.622000 320 782 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70178911 70178911 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:70178911G>A ENST00000399180.2 - 19 3104 c.3105C>T c.(3103-3105)atC>atT p.I1035I DNA2_ENST00000399179.2_Silent_p.I711I|DNA2_ENST00000358410.3_Silent_p.I949I P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 949 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AATCATTGATGATCTTTAATT 0.358000 12 21 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20009888 20009888 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:20009888G>A ENST00000294543.6 - 16 1791 c.1550C>T c.(1549-1551)gCc>gTc p.A517V TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.A477V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A517V NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 517 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GATGCCCACGGCCTTCAGGAT 0.677000 19 2 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697867 17697867 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:17697867C>T ENST00000399080.2 - 1 1839 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 606 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AAAATGCATTCCTCTTCTAAT 0.269000 7 7 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135422 156135422 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:156135422A>T ENST00000329476.3 + 2 820 c.331A>T c.(331-333)Acc>Tcc p.T111S NPY2R_ENST00000506608.1_Missense_Mutation_p.T111S NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 111 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TCTTACCTATACCTTAATGGG 0.488000 22 29 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53585397 53585397 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:53585397A>C ENST00000267082.5 - 16 2571 c.2340T>G c.(2338-2340)agT>agG p.S780R ITGB7_ENST00000422257.3_Missense_Mutation_p.S780R|ITGB7_ENST00000338737.4_Missense_Mutation_p.S632R|ITGB7_ENST00000550743.2_Missense_Mutation_p.S632R NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 780 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCGTGATGGCACTTTTGTAGA 0.502000 30 40 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936068 30936068 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:30936068G>A ENST00000355537.3 + 2 1746 c.1599G>A c.(1597-1599)atG>atA p.M533I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.M533I(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCATGGCCATGGAACATGGCT 0.602000 78 55 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100232738 100232738 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:100232738G>A ENST00000305046.8 - 7 971 c.904C>T c.(904-906)Ctc>Ttc p.L302F ADH1B_ENST00000394887.3_Missense_Mutation_p.L262F P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 302 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTTATTGAGAGGTTCTGGGAA 0.473000 46 55 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165755239 165755239 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:165755239C>T ENST00000303735.4 - 10 1193 c.861_splice c.e10-1 p.G288_splice SLC38A11_ENST00000409149.3_Splice_Site_p.G310_splice|SLC38A11_ENST00000409662.1_Splice_Site_p.G310_splice|SLC38A11_ENST00000409058.1_Splice_Site_p.G341_splice NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 310 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 ACAGAGCACACCCTGCATGTT 0.383000 17 14 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102257436 102257436 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:102257436G>A ENST00000370345.3 - 16 2075 c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 660 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CAGAGCTCGGGAAATTTCTCT 0.512000 19 21 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229772119 229772119 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:229772119C>T ENST00000258243.2 + 4 1895 c.1759C>T c.(1759-1761)Ctc>Ttc p.L587F NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 587 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GCTGGCCCTTCTCCCGGACAC 0.617000 139 125 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430317 135430317 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:135430317G>A ENST00000394143.1 + 6 4743 c.4452G>A c.(4450-4452)agG>agA p.R1484R GPR112_ENST00000287534.4_Silent_p.R1421R|GPR112_ENST00000370652.1_Silent_p.R1484R|GPR112_ENST00000394141.1_Silent_p.R1279R|GPR112_ENST00000412101.1_Silent_p.R1279R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1484 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCTCCGACAGGATCACTACAG 0.443000 61 16 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080652 42080652 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:42080652G>A ENST00000400454.1 - 2 566 c.89C>T c.(88-90)tCt>tTt p.S30F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 30 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTCTTGCAGAGATGCATTGAC 0.527000 102 74 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086907 55086907 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:55086907C>T ENST00000251377.3 + 6 973 c.840C>T c.(838-840)ttC>ttT p.F280F LILRA2_ENST00000391738.3_Silent_p.F280F|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.F268F|LILRA2_ENST00000251376.3_Silent_p.F280F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) AGGCCAACTTCACCCTGGGCC 0.627000 57 39 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107501287 107501287 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:107501287C>T ENST00000265840.7 + 3 427 c.163_splice c.e3+1 p.I54_splice ELMOD1_ENST00000443271.2_Splice_Site_p.I54_splice|ELMOD1_ENST00000531234.1_Splice_Site_p.I48_splice NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 54 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCATGAAAATCGGTAAGCCTG 0.408000 7 0 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45943258 45943258 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:45943258G>A ENST00000357632.2 + 3 1158 c.978G>A c.(976-978)cgG>cgA p.R326R CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R314R|CCR9_ENST00000355983.2_Silent_p.R314R|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 326 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GATTCCGCCGGGATCTCGTGA 0.512000 27 36 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73447448 73447448 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:73447448C>T ENST00000224721.6 + 18 2051 c.2046C>T c.(2044-2046)ttC>ttT p.F682F CDH23_ENST00000299366.7_Silent_p.F722F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 677 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGCCTACTTCGTCTCCGTGG 0.627000 9 27 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15871654 15871654 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:15871654C>T ENST00000595525.1 + 0 470 CYP4F24P_ENST00000587443.2_RNA GAATAAAAGCCAGAGGTGACC 0.572000 25 21 0 0 1 0 0 C8orf46 254778 broad.mit.edu 37 8 67425821 67425821 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:67425821C>T ENST00000305454.3 + 5 830 c.389C>T c.(388-390)tCa>tTa p.S130L C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Missense_Mutation_p.S130L|C8orf46_ENST00000522977.1_Silent_p.L109L|C8orf46_ENST00000521495.1_Intron NM_152765.3 NP_689978.2 Q8TAG6 CH046_HUMAN chromosome 8 open reading frame 46 130 endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2) 6 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCCTCTGCCTCATTGGAGGCG 0.597000 29 55 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940570 144940570 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:144940570C>T ENST00000525985.1 - 2 6923 c.6852G>A c.(6850-6852)gaG>gaA p.E2284E P58107 EPIPL_HUMAN epiplakin 1 2284 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCACGGCCTCCTCCACCGACA 0.746000 8 122 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45309898 45309898 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:45309898G>A ENST00000313237.5 - 5 785 c.635C>T c.(634-636)cCc>cTc p.P212L PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 212 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) aggggtgaggggaagagagga 0.642000 53 2 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17288908 17288908 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:17288908G>A ENST00000331428.5 - 2 158 c.56C>T c.(55-57)tCg>tTg p.S19L NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 19 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTCTTCTTTCGAAGATGAAAC 0.428000 92 6 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107691493 107691493 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:107691493G>A ENST00000445937.1 + 4 537 c.276G>A c.(274-276)caG>caA p.Q92Q OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.Q25Q|OXR1_ENST00000442977.2_Silent_p.Q93Q|OXR1_ENST00000312046.6_Silent_p.Q85Q|OXR1_ENST00000531443.1_Silent_p.Q92Q|OXR1_ENST00000517566.2_Silent_p.Q92Q NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 93 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TGTCTTTTCAGAAACCTAAAG 0.328000 13 35 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196602738 196602738 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:196602738C>T ENST00000312428.6 - 65 12082 c.11982G>A c.(11980-11982)acG>acA p.T3994T DNAH7_ENST00000409063.1_Silent_p.T477T|DNAH7_ENST00000484183.1_5'UTR NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3994 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCACAAAATTCGTGGAATGGC 0.453000 25 32 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65983617 65983617 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:65983617C>T ENST00000320580.4 + 5 721 c.688C>T c.(688-690)Ctg>Ttg p.L230L NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 230 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TGAAGGCGCACTGGTGCTTGG 0.532000 32 6 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540744 28540744 + Silent SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:28540744A>G ENST00000452236.2 - 4 3539 c.2922T>C c.(2920-2922)gcT>gcC p.A974A NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 974 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ctgtcattgaagctgcaccat 0.368000 29 103 0 0 1 0 0 MEX3D 399664 broad.mit.edu 37 19 1556354 1556354 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:1556354G>A ENST00000402693.4 - 2 1163 c.1164C>T c.(1162-1164)gcC>gcT p.A388A MEX3D_ENST00000388824.6_Silent_p.A388A NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 388 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCGGAGGCCGGCCGTGGCCG 0.801000 12 3 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110765 72110765 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:72110765G>A ENST00000540303.2 + 5 864 c.832G>A c.(832-834)Gaa>Aaa p.E278K HPR_ENST00000356967.5_Missense_Mutation_p.E278K|HPR_ENST00000228226.8_Missense_Mutation_p.E315K|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 278 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CATACTGAACGAACACACCTT 0.552000 45 51 0 0 1 0 0 MPP4 58538 broad.mit.edu 37 2 202545672 202545672 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:202545672C>T ENST00000409474.3 - 10 1025 c.818G>A c.(817-819)gGg>gAg p.G273E MPP4_ENST00000447335.2_Missense_Mutation_p.G273E|MPP4_ENST00000315506.7_Missense_Mutation_p.G260E|MPP4_ENST00000409143.1_Missense_Mutation_p.G246E|MPP4_ENST00000396886.3_Missense_Mutation_p.G229E|MPP4_ENST00000359962.5_Missense_Mutation_p.G273E|MPP4_ENST00000428900.2_Missense_Mutation_p.G273E NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 273 SH3. cytoplasm protein binding kidney(1)|lung(11) 12 GAGGATGTCCCCCTTCTGGAA 0.587000 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 15 0 0 1 0 0 BEX5 340542 broad.mit.edu 37 X 101409140 101409140 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:101409140C>T ENST00000543160.1 - 3 399 c.98G>A c.(97-99)gGa>gAa p.G33E BEX5_ENST00000333643.3_Missense_Mutation_p.G33E NM_001159560.1 NP_001153032.1 Q5H9J7 BEX5_HUMAN brain expressed, X-linked 5 33 cytoplasm large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 TTTAACATTTCCTCCAGGCTC 0.498000 36 12 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11606796 11606796 + Missense_Mutation SNP G G A rs140986196 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:11606796G>A ENST00000585656.1 - 3 439 c.440C>T c.(439-441)cCc>cTc p.P147L ZNF653_ENST00000293771.5_Silent_p.P176P AGTCGCTGAGGGGCTTCAGGG 0.627000 23 18 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080495 29080495 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:29080495C>T ENST00000377169.1 + 1 828 c.828C>T c.(826-828)ttC>ttT p.F276F NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 AAGGCAAGTTCATTGCCCTCT 0.443000 52 104 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177930760 177930760 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:177930760G>A ENST00000308284.6 - 6 841 c.752C>T c.(751-753)cCc>cTc p.P251L RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P251L|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P251L NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 251 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGAAGCTGGGGGATCATCCCG 0.542000 30 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610423 179610423 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179610423G>A ENST00000360870.5 - 46 16926 c.16704C>T c.(16702-16704)ttC>ttT p.F5568F TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9040 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGGTTATGGAACCCTGTGC 0.438000 35 59 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8645836 8645836 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:8645836G>A ENST00000270328.4 - 25 3519 c.3253C>T c.(3253-3255)Cag>Tag p.Q1085* ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.Q1085*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.Q572* Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 1085 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTGCAGAACTGAAATTTGAGC 0.627000 OREG0025220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 22 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43913174 43913174 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:43913174G>A ENST00000291536.3 - 2 237 c.70C>T c.(70-72)Cgg>Tgg p.R24W RSPH1_ENST00000398352.3_Intron NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 24 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 GCCTCATTCCGACCCCCCTCA 0.498000 66 146 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111958734 111958734 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:111958734C>T ENST00000305815.5 - 12 1651 c.1399G>A c.(1399-1401)Gat>Aat p.D467N SLC9C1_ENST00000487372.1_Missense_Mutation_p.D419N NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 467 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATGTTCCAATCAGCATTAGCA 0.333000 9 16 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62762219 62762219 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:62762219G>A ENST00000336232.2 - 8 1146 c.1011C>T c.(1009-1011)acC>acT p.T337T SLC22A8_ENST00000545207.1_Silent_p.T246T|SLC22A8_ENST00000430500.2_Silent_p.T337T|SLC22A8_ENST00000535878.1_Silent_p.T214T|SLC22A8_ENST00000311438.8_Silent_p.T337T NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 337 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 AGGCAAAACCGGTAGCAAACC 0.517000 19 4 0 0 1 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797959 31797959 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:31797959G>A ENST00000390690.2 - 1 327 c.272C>T c.(271-273)tCt>tTt p.S91F NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 91 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 AGTCAGGCAAGAATTGCAGAG 0.572000 37 25 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958655 88958655 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:88958655C>T ENST00000268679.4 - 4 1014 c.618G>A c.(616-618)ctG>ctA p.L206L CBFA2T3_ENST00000327483.5_Silent_p.L120L|CBFA2T3_ENST00000360302.2_Silent_p.L120L|CBFA2T3_ENST00000448839.1_Silent_p.L130L|CBFA2T3_ENST00000436887.2_Silent_p.L181L NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 206 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) AACTCACCACCAGGCCCAGCA 0.612000 T RUNX1 AML 27 23 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36714220 36714220 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:36714220C>T ENST00000244751.2 - 16 1777 c.1153G>A c.(1153-1155)Ggg>Agg p.G385R CPNE5_ENST00000393189.2_Missense_Mutation_p.G93R|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 385 VWFA. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGCTTGGCCCCGAAGCCCAGG 0.642000 112 64 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091552 106091552 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:106091552G>A ENST00000390543.2 - 0 341 GTCCCCCCAGGAACTCAGGTG 0.627000 17 80 0 0 1 0 0 CETN3 1070 broad.mit.edu 37 5 89695273 89695273 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:89695273C>T ENST00000283122.3 - 4 486 c.362G>A c.(361-363)aGg>aAg p.R121K CETN3_ENST00000522083.1_Missense_Mutation_p.R121K|CETN3_ENST00000522565.1_Missense_Mutation_p.R121K|CETN3_ENST00000522864.1_Intron NM_004365.2 NP_004356.2 O15182 CETN3_HUMAN centrin, EF-hand protein, 3 121 EF-hand 3. cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) TCGCAAATTCCTCAAGCTTAT 0.373000 27 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179393040 179393040 + Missense_Mutation SNP G G T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179393040G>T ENST00000589042.1 - 361 107562 c.107338C>A c.(107338-107340)Cgt>Agt p.R35780S TTN_ENST00000460472.2_Missense_Mutation_p.R26715S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26840S|TTN_ENST00000591111.1_Missense_Mutation_p.R34139S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R33212S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26907S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34139 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTGGCCACGGAAATTTTTG 0.428000 4 70 1 1 1 1 0 ATF1 466 broad.mit.edu 37 12 51173993 51173993 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:51173993G>A ENST00000262053.3 + 2 87 c.65G>A c.(64-66)gGa>gAa p.G22E ATF1_ENST00000539132.1_5'UTR NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 22 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway p.G22R(1) EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 GCAGTTCAGGGAGCTCACATT 0.418000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 51 58 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122630878 122630878 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:122630878C>T ENST00000195173.4 - 20 3232 c.2929G>A c.(2929-2931)Gac>Aac p.D977N SEMA5B_ENST00000451055.2_Missense_Mutation_p.D1033N|SEMA5B_ENST00000357599.3_Missense_Mutation_p.D979N Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 979 TSP type-1 5. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCTCCGTCGTCAGTGCACTTA 0.652000 11 26 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35926330 35926330 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:35926330G>A ENST00000540320.1 + 38 6583 c.6049G>A c.(6049-6051)Gaa>Aaa p.E2017K NBEA_ENST00000379939.2_Missense_Mutation_p.E2014K|NBEA_ENST00000400445.3_Missense_Mutation_p.E2017K|NBEA_ENST00000310336.4_Missense_Mutation_p.E2017K Q8NFP9 NBEA_HUMAN neurobeachin 2017 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGAAGAGAGGAAGAAAAGAT 0.333000 11 32 0 0 1 0 0 LRRC37A5P 652972 broad.mit.edu 37 9 114371503 114371503 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:114371503G>A ENST00000374304.1 - 0 296 CGTTGTTGGGGATGAGGGACC 0.502000 23 52 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067595 190067595 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:190067595C>T ENST00000367462.3 - 8 2085 c.1854G>A c.(1852-1854)tgG>tgA p.W618* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W516*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 618 extracellular region p.W618C(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAAATGTCTTCCATTTGTTCC 0.433000 148 251 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38098425 38098425 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:38098425C>T ENST00000290399.6 + 6 1162 c.549C>T c.(547-549)atC>atT p.I183I SIM2_ENST00000430056.3_Silent_p.I183I NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 183 IH -> RI (in Ref. 7; BAA07909). cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CCCAGGTCATCCACTGCAGTG 0.577000 51 67 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172237 21172237 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:21172237G>A ENST00000421593.2 + 2 141 c.141G>A c.(139-141)ccG>ccA p.P47P SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) p.P47P(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TACACAGACCGAAGTTAATTG 0.328000 7 17 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072405 17072405 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:17072405T>G ENST00000359963.3 - 1 1295 c.1036A>C c.(1036-1038)Aag>Cag p.K346Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 346 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCTGGCACTTGCCTGGCCTC 0.557000 128 14 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141135827 141135827 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:141135827G>A ENST00000389484.3 - 68 11531 c.10560C>T c.(10558-10560)ttC>ttT p.F3520F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3520 LDL-receptor class A 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGCACAGAGGAAATCTTTCA 0.378000 TSP Lung(27;0.18) 35 34 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196438156 196438156 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:196438156C>T ENST00000367433.5 - 6 528 c.427G>A c.(427-429)Gaa>Aaa p.E143K KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E143K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 143 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTAATTATTTCCAAGATGAAG 0.313000 9 14 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5058443 5058443 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:5058443G>A ENST00000251170.7 + 14 1774 c.1594G>A c.(1594-1596)Gga>Aga p.G532R NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 532 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GATCCTGGAAGGAGAGTCGGT 0.647000 9 18 0 0 1 0 0 DOK7 285489 broad.mit.edu 37 4 3475242 3475242 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:3475242C>T ENST00000340083.5 + 3 275 c.210C>T c.(208-210)ccC>ccT p.P70P DOK7_ENST00000507039.1_Silent_p.P70P|DOK7_ENST00000389653.2_Silent_p.P70P NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 70 PH. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCGGCCTGCCCTACGAGGGCT 0.642000 9 18 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1817665 1817665 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:1817665G>A ENST00000250894.4 + 27 3492 c.3335G>A c.(3334-3336)aGg>aAg p.R1112K MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1106K NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1112 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCACCCTGAGGCTCTACCAT 0.637000 23 27 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099485 142099485 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:142099485G>A ENST00000390359.3 - 0 355 ATACACGGCGGAGTCCTCCTG 0.557000 5 46 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781454 52781454 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:52781454C>T ENST00000245457.5 + 1 342 c.188C>T c.(187-189)tCc>tTc p.S63F PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 63 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CGCAGGAGCTCCCTCTCCTTG 0.687000 17 29 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41427706 41427706 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:41427706C>T ENST00000400454.1 - 29 5458 c.4981G>A c.(4981-4983)Gac>Aac p.D1661N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1661 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.D1661N(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGGGTATGTCGATGTGCATT 0.468000 78 143 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952603 54952603 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:54952603G>A ENST00000273286.5 - 3 1083 c.921C>T c.(919-921)gcC>gcT p.A307A CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Silent_p.A231A|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 307 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGCCATAGATGGCAGCTGCCA 0.542000 79 49 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39917600 39917600 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr22:39917600C>T ENST00000337304.2 + 1 1032 c.150C>T c.(148-150)tcC>tcT p.S50S ATF4_ENST00000396680.1_Silent_p.S50S|ATF4_ENST00000404241.2_Silent_p.S50S NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 50 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) ATGGGTTCTCCAGCGACAAGG 0.577000 63 6 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133312044 133312044 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:133312044G>A ENST00000539605.1 - 8 8146 c.1462C>T c.(1462-1464)Ctt>Ttt p.L488F ANKLE2_ENST00000357997.5_Missense_Mutation_p.L550F|ANKLE2_ENST00000337516.5_Missense_Mutation_p.L550F Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 550 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ACGTGGTGAAGGAAGCCTGCT 0.527000 32 47 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843430 137843430 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:137843430C>T ENST00000236709.3 - 3 900 c.699G>A c.(697-699)agG>agA p.R233R NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 233 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 TACACCATACCCTCAACATCC 0.463000 214 402 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122004453 122004453 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:122004453C>T ENST00000265922.3 - 4 912 c.451G>A c.(451-453)Gac>Aac p.D151N DBC1_ENST00000373964.2_Missense_Mutation_p.D151N NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 151 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GACTTCCTGTCGAGGCGACTT 0.488000 34 3 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665653 153665653 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:153665653C>T ENST00000368680.3 + 21 3575 c.3103C>T c.(3103-3105)Cga>Tga p.R1035* NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 1035 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCTGGAGCTTCGAGGGGATGT 0.562000 38 68 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62396711 62396711 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:62396711G>A ENST00000346178.4 - 17 1972 c.1957C>T c.(1957-1959)Cct>Tct p.P653S GANAB_ENST00000540933.1_Missense_Mutation_p.P534S|GANAB_ENST00000534779.1_Missense_Mutation_p.P539S|GANAB_ENST00000356638.3_Missense_Mutation_p.P631S NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 631 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 AGACACATAGGAATAGAGATC 0.532000 42 5 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726770 32726770 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32726770C>T ENST00000435145.2 - 3 564 c.503G>A c.(502-504)gGt>gAt p.G168D HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G168D|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.G168D Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 168 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 GGACACAACACCGGCTGTCTC 0.542000 18 85 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130900819 130900819 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:130900819G>A ENST00000409234.3 - 2 404 c.318C>T c.(316-318)ttC>ttT p.F106F CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000392984.3_5'UTR Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 250 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) ATCCCATCAGGAACTGAAGGG 0.557000 28 43 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511204 169511204 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:169511204G>A ENST00000367796.3 - 13 3340 c.3139C>T c.(3139-3141)Cct>Tct p.P1047S F5_ENST00000367797.3_Missense_Mutation_p.P1042S P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1042 B. Cleavage; by thrombin. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGAGATAAAGGAGCATGGTGT 0.398000 58 192 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372684 126372684 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:126372684G>A ENST00000394329.3 + 9 10526 c.10513G>A c.(10513-10515)Gat>Aat p.D3505N FAT4_ENST00000335110.5_Missense_Mutation_p.D1803N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3505 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGATATAAATGATAACGGGCC 0.488000 43 68 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54326282 54326282 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:54326282C>T ENST00000231009.2 + 3 303 c.233C>T c.(232-234)cCc>cTc p.P78L CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 78 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGCCAGTCTCCCACTGTGGTT 0.438000 24 33 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518434 84518434 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:84518434C>T ENST00000331369.5 + 0 628 CTGGTTTTTTCCAGTCAGCAG 0.473000 35 16 0 0 1 0 0 FAM73B 84895 broad.mit.edu 37 9 131832147 131832147 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:131832147C>T ENST00000358369.4 + 15 1704 c.1478C>T c.(1477-1479)tCc>tTc p.S493F FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 493 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 GGCTTCATCTCCCATTTCTAC 0.597000 86 13 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43332514 43332514 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr21:43332514C>T ENST00000380486.3 - 7 1121 c.880G>A c.(880-882)Gat>Aat p.D294N C2CD2_ENST00000329623.7_Missense_Mutation_p.D139N NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 294 C2. cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TGAACAGGATCGTTCAGCTGC 0.438000 9 6 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890731 31890731 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:31890731A>G ENST00000253354.1 + 11 1152 c.991A>G c.(991-993)Aag>Gag p.K331E BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 331 extracellular space lipid binding GGCTGCAGATAAGCTGGGATC 0.577000 31 30 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61225608 61225608 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:61225608C>T ENST00000382768.1 + 2 192 c.192C>T c.(190-192)tcC>tcT p.S64S SERPINB12_ENST00000269491.1_Silent_p.S64S Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 64 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 ACGAATTTTCCCAGAATGAAA 0.428000 29 46 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343804 248343804 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:248343804G>A ENST00000359682.2 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGTCTCGGGAAATAGCCCA 0.418000 81 258 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36466174 36466174 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:36466174G>A ENST00000229812.7 - 11 1327 c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 348 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCAGAGATGGGAACTTCTGGA 0.373000 73 119 0 0 1 0 0 DYRK2 8445 broad.mit.edu 37 12 68052204 68052204 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:68052204C>T ENST00000344096.3 + 3 1930 c.1517C>T c.(1516-1518)cCc>cTc p.P506L DYRK2_ENST00000393555.3_Missense_Mutation_p.P433L NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 506 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TGTGATGATCCCCTTTTCCTT 0.612000 33 45 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47463663 47463663 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr18:47463663G>A ENST00000285039.7 - 15 2156 c.1857C>T c.(1855-1857)ccC>ccT p.P619P NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 619 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTTTCATGGGGGGTCTGGCAG 0.572000 36 73 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133337 22133337 + Missense_Mutation SNP T T C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:22133337T>C ENST00000408935.1 + 1 41 c.41T>C c.(40-42)tTc>tCc p.F14S NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GAATTTGTCTTCTTGGGACTC 0.373000 37 44 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7016246 7016246 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:7016246G>A ENST00000409757.4 + 12 1843 c.1719G>A c.(1717-1719)aaG>aaA p.K573K TBC1D14_ENST00000451522.2_Silent_p.K293K|TBC1D14_ENST00000410031.1_Silent_p.K345K|TBC1D14_ENST00000448507.1_Silent_p.K573K|TBC1D14_ENST00000446947.2_Silent_p.K220K NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 573 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CGCATTTCAAGAAGAACAACC 0.358000 3 14 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111263903 111263903 + Missense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:111263903A>T ENST00000352690.4 + 2 312 c.72A>T c.(70-72)gaA>gaT p.E24D CD96_ENST00000283285.5_Missense_Mutation_p.E24D|CD96_ENST00000438817.2_Missense_Mutation_p.E24D NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 24 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GAGTTTGGGAAAAAACAGTCA 0.398000 Opitz Trigonocephaly syndrome 28 70 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84718754 84718754 + Nonsense_Mutation SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:84718754A>T ENST00000372142.2 + 7 818 c.544A>T c.(544-546)Aaa>Taa p.K182* NRG3_ENST00000404547.1_Nonsense_Mutation_p.K403*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.K403*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.K53*|NRG3_ENST00000545131.1_Nonsense_Mutation_p.K53*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.K233*|NRG3_ENST00000404576.2_Nonsense_Mutation_p.K207* NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 403 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ACAAAATGGTAAAAGCTACAG 0.408000 13 16 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100821706 100821706 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:100821706G>A ENST00000358544.2 + 44 8231 c.8120G>A c.(8119-8121)cGa>cAa p.R2707Q VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2682Q NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2707 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACAGGGGTCGAACTGCTTCT 0.438000 20 53 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159682637 159682637 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:159682637G>A ENST00000393977.3 - 6 1091 c.806C>T c.(805-807)tCt>tTt p.S269F CCNJL_ENST00000257536.7_Missense_Mutation_p.S221F|CCNJL_ENST00000541762.1_Missense_Mutation_p.S220F|CCNJL_ENST00000519673.1_Missense_Mutation_p.S221F|CCNJL_ENST00000377503.2_5'UTR NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 269 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGTAGGGAGAAAGCTGCAG 0.522000 44 71 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737910 62737910 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:62737910C>T ENST00000369768.1 - 1 614 c.275G>A c.(274-276)gGg>gAg p.G92E NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 92 G -> R (in a colorectal cancer sample; somatic mutation). plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CGTGAAGAGCCCGTCGGCGAC 0.627000 22 8 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77397781 77397781 + Splice_Site SNP A A T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:77397781A>T ENST00000282849.5 - 6 1392 c.972_splice c.e6-1 p.V325_splice NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 325 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TAGGCCAGAAACCTGTTGGAA 0.373000 7 28 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51453182 51453182 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:51453182G>A ENST00000336334.3 - 3 616 c.264C>T c.(262-264)ccC>ccT p.P88P KLK5_ENST00000593428.1_Silent_p.P88P|KLK5_ENST00000391809.2_Silent_p.P88P NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 88 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) AGAGCTGGTTGGGCCTTAGCA 0.632000 11 27 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129641854 129641854 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:129641854C>T ENST00000319119.4 + 2 261 c.176C>T c.(175-177)cCa>cTa p.P59L ZBTB34_ENST00000373452.2_Missense_Mutation_p.P55L NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 55 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GCCAGCTCCCCATATTTCCGG 0.463000 105 10 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73336202 73336202 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:73336202G>A ENST00000377767.4 - 17 2301 c.2201C>T c.(2200-2202)cCa>cTa p.P734L DIS3_ENST00000377780.4_Missense_Mutation_p.P704L|DIS3_ENST00000545453.1_Missense_Mutation_p.P572L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 734 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GTTTAGATATGGAAAAGTAGG 0.398000 Multiple Myeloma(4;0.011) 30 64 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82443501 82443501 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:82443501G>A ENST00000360464.4 - 1 112 c.50C>T c.(49-51)tCc>tTc p.S17F RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 17 lipid binding|transporter activity large_intestine(1)|lung(3) 4 GTAGTCTTCGGAATTTTCACA 0.383000 12 8 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37522954 37522954 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:37522954G>A ENST00000432825.2 - 7 1846 c.1798C>T c.(1798-1800)Cag>Tag p.Q600* FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Nonsense_Mutation_p.Q125* NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 600 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCTCCCCACTGATTCTCACGG 0.517000 3 0 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43612116 43612116 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:43612116G>A ENST00000355710.3 + 12 2453 c.2221G>A c.(2221-2223)Gca>Aca p.A741T RET_ENST00000340058.5_Missense_Mutation_p.A741T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 741 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGTGGTCAAGGCAACGGCCTT 0.532000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 68 93 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63594956 63594956 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:63594956C>T ENST00000478300.1 + 5 975 c.564C>T c.(562-564)atC>atT p.I188I SYNPR_ENST00000460711.1_Silent_p.I179I|SYNPR_ENST00000465156.1_Intron|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000295894.5_Silent_p.I168I|SYNPR_ENST00000479198.1_Silent_p.I168I NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 168 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) GCATGGCTATCCACAGCCCTG 0.398000 6 8 0 0 1 0 0 LNP1 348801 broad.mit.edu 37 3 100148714 100148714 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr3:100148714C>T ENST00000383693.3 + 2 1421 c.141C>T c.(139-141)acC>acT p.T47T LNP1_ENST00000489752.1_Silent_p.T47T NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 47 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 ACAGGAAAACCTCCCTGCCCT 0.547000 37 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595373 179595373 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:179595373C>T ENST00000589042.1 - 61 18111 c.17887G>A c.(17887-17889)Gaa>Aaa p.E5963K TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5646K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4719K|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5646 Ig-like 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTACTTTTCACTAGCTGAT 0.398000 54 55 0 0 1 0 0 HAND2 9464 broad.mit.edu 37 4 174450277 174450277 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:174450277G>A ENST00000359562.4 - 1 1103 c.164C>T c.(163-165)cCc>cTc p.P55L HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 55 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GTAGTCGGGGGGCGACATCTC 0.746000 8 14 0 0 1 0 0 FCF1 51077 broad.mit.edu 37 14 75200790 75200790 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:75200790C>T ENST00000341162.4 + 7 519 c.465C>T c.(463-465)taC>taT p.Y155Y FCF1_ENST00000534938.2_Silent_p.Y143Y|FCF1_ENST00000553615.1_Silent_p.Y140Y NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 155 PINc. rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) ATAAGTGTTACATTGTGGCCA 0.443000 12 15 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54275668 54275668 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:54275668T>A ENST00000354646.2 - 17 3551 c.3113A>T c.(3112-3114)gAt>gTt p.D1038V WNK3_ENST00000375159.2_Missense_Mutation_p.D1038V|WNK3_ENST00000375169.3_Missense_Mutation_p.D1038V NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1038 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 AGGCTTTTGATCAAATGCCAG 0.443000 21 5 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933093 44933093 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:44933093G>A ENST00000291187.4 - 6 2167 c.1845C>T c.(1843-1845)gtC>gtT p.V615V ZNF229_ENST00000588931.1_Silent_p.V621V|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTCCAGTGTGGACCCTCTGAT 0.542000 39 67 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716704 39716704 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:39716704G>A ENST00000553728.1 + 4 1139 c.926G>A c.(925-927)tGg>tAg p.W309* MIA2_ENST00000556784.1_Nonsense_Mutation_p.W308*|MIA2_ENST00000280082.3_Nonsense_Mutation_p.W309* TCCACTGGTTGGTTTGGTGGA 0.413000 21 32 0 0 1 0 0 SLPI 6590 broad.mit.edu 37 20 43882291 43882291 + Missense_Mutation SNP A A C TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:43882291A>C ENST00000338380.2 - 2 189 c.169T>G c.(169-171)Tgt>Ggt p.C57G NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 57 Trypsin inhibitory domain.|WAP 1. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TTCCCTGGACACTGCCAGTCA 0.502000 37 57 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39503881 39503881 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:39503881C>T ENST00000559001.1 + 8 1608 c.1507C>T c.(1507-1509)Cct>Tct p.P503S POU6F2_ENST00000518318.2_Intron|POU6F2_ENST00000403058.1_Missense_Mutation_p.P558S P78424 PO6F2_HUMAN POU class 6 homeobox 2 558 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTTTTGTATCCTGCCAGGTT 0.537000 13 81 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58000683 58000683 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr12:58000683G>A ENST00000548198.1 + 3 1541 c.37G>A c.(37-39)Ggc>Agc p.G13S DTX3_ENST00000551632.1_Missense_Mutation_p.G16S|DTX3_ENST00000548804.1_Missense_Mutation_p.G13S|DTX3_ENST00000337737.3_Missense_Mutation_p.G13S Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 13 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) AGCCTGTGGAGGCACCTGCAA 0.612000 72 110 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52339228 52339228 + Missense_Mutation SNP T T A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:52339228T>A ENST00000356297.4 - 13 1716 c.1616A>T c.(1615-1617)cAg>cTg p.Q539L PXDNL_ENST00000543296.1_Missense_Mutation_p.Q539L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 539 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATTATGGGCTGTGGTTCTCC 0.378000 4 11 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8584276 8584276 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr4:8584276C>T ENST00000382487.4 + 2 1104 c.687C>T c.(685-687)ctC>ctT p.L229L GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 229 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 AGCGCTGCCTCATCCAGCAGA 0.632000 28 30 0 0 1 0 0 CDC37L1 55664 broad.mit.edu 37 9 4701869 4701869 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:4701869G>A ENST00000381854.3 + 6 955 c.753G>A c.(751-753)gaG>gaA p.E251E CDC37L1_ENST00000381858.1_Silent_p.E251E NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 251 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) TCTAGGCAGAGGAAGAAGGTT 0.323000 21 6 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39234686 39234686 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:39234686C>T ENST00000328867.4 - 1 428 c.120G>A c.(118-120)ctG>ctA p.L40L CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 40 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TCCCCGAATCCAGGCAGGCTG 0.647000 37 37 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95721226 95721226 + RNA SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:95721226G>A ENST00000480546.1 - 0 71 NR_002319.2 AAAACCGACCGAAGACAACGG 0.597000 50 56 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14181703 14181703 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:14181703C>T ENST00000382080.1 - 3 960 c.245G>A c.(244-246)gGa>gAa p.G82E SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 69 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G82E(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCTCAGATTTCCCATACCATC 0.353000 33 22 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40767562 40767562 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:40767562C>T ENST00000372748.3 - 31 1889 c.e31-1 COL9A2_ENST00000466267.1_Splice_Site NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCACGTTTTCCTGTAGACAAA 0.483000 14 1 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65444470 65444470 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:65444470G>A ENST00000304895.4 - 4 770 c.640C>T c.(640-642)Ctg>Ttg p.L214L GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.L214L NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 214 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 GACCGCTGCAGTCCAGCGTAG 0.527000 5 43 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062480 53062480 + Nonsense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:53062480G>A ENST00000276480.7 - 16 2547 c.1864C>T c.(1864-1866)Cga>Tga p.R622* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 622 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCAGGATTCGATTTTTTTTC 0.413000 29 63 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99670140 99670140 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:99670140C>T ENST00000336292.6 + 5 1692 c.1572C>T c.(1570-1572)ttC>ttT p.F524F SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.F524F|SYNM_ENST00000560674.1_Silent_p.F239F NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 525 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 AGAAAATGTTCGATTCTAAAG 0.448000 10 6 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10310296 10310296 + Splice_Site SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:10310296C>T ENST00000403437.2 - 18 2060 c.1965_splice c.e18-1 p.E656_splice CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 656 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTTAAATTTTCCTAGAAAACC 0.373000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 18 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26821463 26821463 + Missense_Mutation SNP A A G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:26821463A>G ENST00000444914.3 + 9 1808 c.1388A>G c.(1387-1389)aAc>aGc p.N463S SLC13A2_ENST00000314669.5_Missense_Mutation_p.N414S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.N371S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.N343S NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 414 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) AAGACGGTGAACCAGAAGATG 0.582000 OREG0024276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 49 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147110 26147110 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr16:26147110G>A ENST00000331351.5 + 2 1304 c.912G>A c.(910-912)aaG>aaA p.K304K HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 304 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CACTGTCAAAGAAACCCGAGA 0.547000 48 113 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46857023 46857023 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr19:46857023C>T ENST00000012443.4 + 2 243 c.140C>T c.(139-141)gCc>gTc p.A47V PPP5C_ENST00000391919.1_5'UTR NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 47 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TACGAGAACGCCATCAAGTTC 0.607000 11 32 0 0 1 0 0 HBD 3045 broad.mit.edu 37 11 5254004 5254004 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:5254004G>A ENST00000292901.3 - 3 389 c.340C>T c.(340-342)Cta>Tta p.L114L P02042 HBD_HUMAN hemoglobin, delta 0 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTATCTGTAGAGCCTCAGGA 0.398000 10 1 0 0 1 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882730 143882730 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr7:143882730G>A ENST00000486333.1 + 1 2172 c.2134G>A c.(2134-2136)Ggc>Agc p.G712S NM_198495.2 NP_940897.2 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 712 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 GGATACAAGGGGCCCGTTCAT 0.527000 25 96 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320620 48320620 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:48320620G>A ENST00000376876.3 - 9 1475 c.633_splice c.e9+1 p.S211_splice SLC38A5_ENST00000376875.1_Splice_Site_p.S160_splice|SLC38A5_ENST00000317669.5_Splice_Site_p.S211_splice Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 211 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 GTGACTCACCGAAACAAGGAA 0.537000 12 5 0 0 1 0 0 AUH 549 broad.mit.edu 37 9 94118217 94118217 + Missense_Mutation SNP C C A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:94118217C>A ENST00000375731.4 - 3 389 c.366G>T c.(364-366)aaG>aaT p.K122N AUH_ENST00000422391.2_Missense_Mutation_p.K122N|AUH_ENST00000303617.5_Missense_Mutation_p.K122N|AUH_ENST00000478465.1_5'UTR NM_001698.2 NP_001689.1 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-CoA hydratase 122 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 TCCGTACTTTCTTATCAGATT 0.318000 25 3 1.80694e-10 1.82553e-10 1 1 0 HEPHL1 341208 broad.mit.edu 37 11 93822128 93822128 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr11:93822128G>A ENST00000315765.9 + 12 2296 c.2288G>A c.(2287-2289)gGg>gAg p.G763E NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 763 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GACGCAAGAGGGGAAAGGTAC 0.532000 34 7 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117053535 117053535 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chrX:117053535G>A ENST00000371876.1 - 3 2787 c.366C>T c.(364-366)ttC>ttT p.F122F KLHL13_ENST00000540167.1_Silent_p.F157F|KLHL13_ENST00000371878.1_Silent_p.F122F|KLHL13_ENST00000262820.3_Silent_p.F173F|KLHL13_ENST00000541812.1_Silent_p.F157F|KLHL13_ENST00000469946.1_Silent_p.F122F|KLHL13_ENST00000371882.1_Silent_p.F122F|KLHL13_ENST00000539496.1_Silent_p.F176F|KLHL13_ENST00000545703.1_Silent_p.F131F Q9P2N7 KLH13_HUMAN kelch-like family member 13 173 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAATCTGTAGGAAACTGGCAG 0.383000 40 6 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52605077 52605077 + Nonsense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr13:52605077C>T ENST00000521776.2 + 2 2870 c.2137C>T c.(2137-2139)Caa>Taa p.Q713* NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 713 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GAGGGCTTTCCAAAAGCTGAC 0.498000 66 183 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62671279 62671279 + Missense_Mutation SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr10:62671279C>T ENST00000337910.5 - 3 359 c.22G>A c.(22-24)Gaa>Aaa p.E8K RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E8K NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 8 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) TTGGGTCTTTCGTAGTCCATG 0.498000 92 125 0 0 1 0 0 TSPAN17 26262 broad.mit.edu 37 5 176084570 176084570 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr5:176084570C>T ENST00000310032.8 + 9 1099 c.870C>T c.(868-870)tcC>tcT p.S290S TSPAN17_ENST00000508164.1_Silent_p.S287S|TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000503045.1_Silent_p.S267S|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000515708.1_3'UTR NM_012171.2|NM_130465.4 NP_036303.1|NP_569732.2 Q96FV3 TSN17_HUMAN tetraspanin 17 134 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCACCATTTCCGAGGTCCTGT 0.547000 11 8 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61621682 61621682 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:61621682G>A ENST00000583023.1 + 12 2425 c.2414G>A c.(2413-2415)aGg>aAg p.R805K KCNH6_ENST00000581784.1_Missense_Mutation_p.R716K|KCNH6_ENST00000314672.5_Missense_Mutation_p.R769K|KCNH6_ENST00000456941.2_Missense_Mutation_p.R716K NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 805 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ATGCCCCCAAGGCACAGCCCC 0.607000 12 27 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448865 99448865 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:99448865C>T ENST00000397899.2 - 5 817 c.486G>A c.(484-486)agG>agA p.R162R KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like CTGGGGGGCTCCTGGGCAGCC 0.617000 56 37 0 0 1 0 0 C1orf61 10485 broad.mit.edu 37 1 156376944 156376944 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:156376944G>A ENST00000368243.1 - 6 467 c.351C>T c.(349-351)tcC>tcT p.S117S NM_006365.1 NP_006356.1 Q13536 CROC4_HUMAN chromosome 1 open reading frame 61 117 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) ggttagacatggagaaggact 0.473000 10 27 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631202 32631202 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:32631202G>A ENST00000242310.4 - 1 4465 c.4376C>T c.(4375-4377)cCa>cTa p.P1459L NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1459 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTCCCGAGATGGGTAGAGGCA 0.443000 126 14 0 0 1 0 0 GPR68 8111 broad.mit.edu 37 14 91700825 91700825 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr14:91700825G>A ENST00000531499.2 - 2 909 c.570C>T c.(568-570)ttC>ttT p.F190F GPR68_ENST00000535815.1_Silent_p.F190F|GPR68_ENST00000238699.3_Silent_p.F200F Q15743 OGR1_HUMAN G protein-coupled receptor 68 190 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) AGCCCACCAGGAAGCGGTAGT 0.647000 13 14 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525795 176525795 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:176525795G>A ENST00000367662.3 + 2 1501 c.337G>A c.(337-339)Gaa>Aaa p.E113K PAPPA2_ENST00000367661.3_Missense_Mutation_p.E113K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 113 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 AGACCTGACTGAAAATCCAGC 0.562000 114 179 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922053 24922053 + Missense_Mutation SNP G G A rs34629208 byFrequency TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:24922053G>A ENST00000329468.2 + 1 1513 c.1039G>A c.(1039-1041)Gat>Aat p.D347N NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATTGCTGTGGGATCGAGGTGA 0.577000 21 39 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502522 220502522 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr2:220502522C>T ENST00000358055.3 + 17 3267 c.2755C>T c.(2755-2757)Ctg>Ttg p.L919L SLC4A3_ENST00000273063.6_Silent_p.L946L|SLC4A3_ENST00000373760.2_Silent_p.L919L|SLC4A3_ENST00000317151.3_Silent_p.L919L|SLC4A3_ENST00000373762.3_Silent_p.L946L P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 919 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCCGCTTCCTGGGGGGCAA 0.617000 28 20 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54605456 54605456 + Missense_Mutation SNP G G A rs140548583 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:54605456G>A ENST00000371330.1 - 4 1934 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C CDCP2_ENST00000530059.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 363 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 AAGCCCCTGCGGGTGGTGCTG 0.627000 44 3 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921413 24921413 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr15:24921413G>A ENST00000329468.2 + 1 873 c.399G>A c.(397-399)ccG>ccA p.P133P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P133P(1) CACGTGAGCCGGCGGTCAAGG 0.632000 17 28 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114825234 114825234 + Silent SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr9:114825234C>T ENST00000374270.3 - 13 2005 c.1833G>A c.(1831-1833)gaG>gaA p.E611E SUSD1_ENST00000374263.3_Silent_p.E611E|SUSD1_ENST00000374264.2_Silent_p.E611E NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 611 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GTCCATTTTTCTCCTTGGCTT 0.478000 49 67 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4622657 4622657 + Missense_Mutation SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr17:4622657G>A ENST00000269260.2 + 11 1092 c.859G>A c.(859-861)Ggt>Agt p.G287S ARRB2_ENST00000572457.1_Missense_Mutation_p.G95S|ARRB2_ENST00000346341.2_Missense_Mutation_p.G272S|ARRB2_ENST00000571206.1_Missense_Mutation_p.G95S|ARRB2_ENST00000412477.3_Missense_Mutation_p.G308S|ARRB2_ENST00000574954.1_Missense_Mutation_p.G95S|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000381488.6_Missense_Mutation_p.G272S NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 287 Interaction with TRAF6. cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 GGAGAAGCGGGGTCTCGCCCT 0.627000 31 34 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 7 252 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32063513_32063514delAC ENST00000375244.3 - 3 2317_2318 c.2116_2117delGT c.(2116-2118)afs p.V706fs TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs P22105 TENX_HUMAN tenascin XB 706 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAAGCCCTCTACACACACACAC 0.668 11 696 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32522380 32522381 + RNA INS - - G rs67825284 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr6:32522380_32522381insG ENST00000411500.1 - 0 740 NR_001298.1 GAAAATAGGATTGGGAGAGTAG 0.475 17 51 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G rs13252403 TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr8:77617546_77617547insG ENST00000521891.2 + 2 1671_1672 c.1223_1224insG c.(1222-1224)cggfs p.R408fs ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGTGAATCTGGGGGGGCTGT 0.535 HNSCC(33;0.089) 11 32 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AAAAAAAAAAACCCCACCTAAT 0.376 6 13 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60 1531350c-ba25-4f51-96e3-e4274a0a2c54 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 493 --- --- --- ---