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 AGTRAP 57085 broad.mit.edu 37 1 11808641 11808641 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:11808641G>A uc001asv.2 + 4 462 c.338G>A c.(337-339)CGC>CAC p.R113H AGTRAP_uc001ast.2_Silent_p.A145A|AGTRAP_uc001asu.2_Silent_p.A145A|AGTRAP_uc001asw.2_Missense_Mutation_p.R113H|AGTRAP_uc001asx.2_Silent_p.A101A NM_020350 NP_065083 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 113 Cytoplasmic (Potential).|Interaction with AGTR1. cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) stomach(2) 2 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TACCGGGAGCGCGGGGGTGAG 0.662000 PRDM2 7799 broad.mit.edu 37 1 14105854 14105854 + Missense_Mutation SNP G G C rs148030242 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:14105854G>C uc001avi.2 + 8 2420 c.1564G>C c.(1564-1566)GAA>CAA p.E522Q PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E522Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E279Q|PRDM2_uc001avk.2_Missense_Mutation_p.E321Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 522 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGGAGGCCTTGAAGAGCCCCA 0.512000 KLHDC7A 127707 broad.mit.edu 37 1 18809393 18809393 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:18809393G>A uc001bax.2 + 1 1970 c.1918G>A c.(1918-1920)GGC>AGC p.G640S KLHDC7A_uc009vpg.2_Missense_Mutation_p.G422S NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 640 Kelch 5. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTTCGTCACCGGCGGCTCGCT 0.716000 TAS1R2 80834 broad.mit.edu 37 1 19181079 19181079 + Silent SNP G G A rs148401055 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:19181079G>A uc001bba.1 - 3 886 c.885C>T c.(883-885)GGC>GGT p.G295G NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 295 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TCCACACGGCGCCAGTGAAGT 0.632000 TAS1R2 80834 broad.mit.edu 37 1 19181261 19181261 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:19181261C>T uc001bba.1 - 3 704 c.703G>A c.(703-705)GCC>ACC p.A235T NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 235 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TCCTGGAAGGCGATGCAGATG 0.637000 RUNX3 864 broad.mit.edu 37 1 25229132 25229132 + Silent SNP G G A rs144597350 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:25229132G>A uc001bjq.2 - 5 1140 c.729C>T c.(727-729)TCC>TCT p.S243S RUNX3_uc010oen.1_Silent_p.S190S|RUNX3_uc009vrj.2_Silent_p.S257S|RUNX3_uc001bjr.2_Silent_p.S257S|RUNX3_uc001bjs.2_RNA NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 243 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GGCGGGGGTCGGAGAATGGGT 0.622000 GNL2 29889 broad.mit.edu 37 1 38058379 38058379 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:38058379G>C uc001cbk.2 - 3 341 c.178C>G c.(178-180)CTG>GTG p.L60V GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.L60V NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 60 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) TGATATTGCAGGGGTTTAATT 0.378000 PTCH2 8643 broad.mit.edu 37 1 45292345 45292345 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:45292345G>A uc010olf.1 - 18 2803 c.2791C>T c.(2791-2793)CGG>TGG p.R931W PTCH2_uc010olg.1_Missense_Mutation_p.R629W NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 931 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CATGCTGCCCGGGCCCCCTCG 0.667000 Basal_Cell_Nevus_syndrome ZCCHC11 23318 broad.mit.edu 37 1 52991676 52991676 + Nonsense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:52991676G>A uc001ctx.2 - 2 511 c.277C>T c.(277-279)CAA>TAA p.Q93* ZCCHC11_uc001cty.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc009vze.1_Nonsense_Mutation_p.Q93*|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Nonsense_Mutation_p.Q93* NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 93 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CAATGACTTTGATCTCGAAGG 0.378000 ST6GALNAC3 256435 broad.mit.edu 37 1 76878075 76878075 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:76878075T>A uc001dhh.2 + 3 759 c.596T>A c.(595-597)GTT>GAT p.V199D ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.V199D|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.V134D NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 199 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 TGTGATGGAGTTTTTAAGAAG 0.398000 ODF2L 57489 broad.mit.edu 37 1 86826217 86826217 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:86826217A>G uc001dll.1 - 12 1486 c.1146T>C c.(1144-1146)ACT>ACC p.T382T ODF2L_uc001dlm.1_Silent_p.T353T|ODF2L_uc001dln.2_Silent_p.T353T|ODF2L_uc001dlo.2_Silent_p.T222T|ODF2L_uc001dlp.2_Silent_p.T382T|ODF2L_uc010osg.1_Silent_p.T353T|ODF2L_uc001dlq.1_Silent_p.T183T|ODF2L_uc009wcr.1_Silent_p.T222T NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 382 Potential. centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) CAGCAAGTGTAGTCTAGCAAA 0.279000 NOTCH2 4853 broad.mit.edu 37 1 120462932 120462932 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:120462932C>T uc001eik.2 - 30 5655 c.5399G>A c.(5398-5400)CGT>CAT p.R1800H NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1800 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGTGTCCTACGGATGTCTGC 0.567000 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome MLLT11 10962 broad.mit.edu 37 1 151039794 151039794 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:151039794C>G uc001ewq.2 + 2 979 c.94C>G c.(94-96)CTG>GTG p.L32V NM_006818 NP_006809 Q13015 AF1Q_HUMAN MLLT11 protein 32 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent 0 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) AGGCCTGGGTCTGTCAGATAC 0.532000 TCHH 7062 broad.mit.edu 37 1 152084947 152084947 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:152084947C>T uc001ezp.2 - 2 746 c.746G>A c.(745-747)CGC>CAC p.R249H TCHH_uc009wne.1_Missense_Mutation_p.R249H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 249 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGTCTCGCGCTTCCTCCA 0.582000 PGLYRP3 114771 broad.mit.edu 37 1 153274943 153274943 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:153274943C>T uc001fbn.1 - 5 723 c.670G>A c.(670-672)GTC>ATC p.V224I NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 precursor 224 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ATGTTTCGGACGACAGTCTGG 0.468000 NPR1 4881 broad.mit.edu 37 1 153653765 153653765 + Missense_Mutation SNP G G A rs17855820 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:153653765G>A uc001fcs.3 + 3 1452 c.1031G>A c.(1030-1032)GGC>GAC p.G344D NPR1_uc010pdz.1_Missense_Mutation_p.G90D NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 344 Extracellular (Potential). G -> V (in Ref. 7; AAH63304). 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 ovary(3)|lung(2)|stomach(1)|breast(1) 7 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) ATGGAGGATGGCCTGGTAAGA 0.537000 MSTO1 55154 broad.mit.edu 37 1 155583270 155583270 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:155583270C>A uc001fky.2 + 12 1334 c.1301C>A c.(1300-1302)ACA>AAA p.T434K MSTO1_uc001fkw.2_Missense_Mutation_p.T434K|MSTO1_uc001fkx.2_Missense_Mutation_p.T434K|MSTO1_uc001fla.2_Missense_Mutation_p.T253K|MSTO1_uc001fkz.2_Missense_Mutation_p.T365K|MSTO1_uc001fld.3_Missense_Mutation_p.T256K|MSTO1_uc009wqs.2_Missense_Mutation_p.T313K|MSTO1_uc010pgf.1_Missense_Mutation_p.T379K|MSTO1_uc001flb.2_Missense_Mutation_p.D315E|MSTO1_uc001flc.2_Missense_Mutation_p.T256K NM_018116 NP_060586 Q9BUK6 MSTO1_HUMAN misato 434 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex 0 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) ACCCCAGGGACACCTCCACCC 0.502000 SPTA1 6708 broad.mit.edu 37 1 158589972 158589972 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:158589972A>G uc001fst.1 - 44 6604 c.6405T>C c.(6403-6405)TCT>TCC p.S2135S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2135 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAATGATGTCAGATAGGTGCT 0.373000 SPTA1 6708 broad.mit.edu 37 1 158647617 158647617 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:158647617T>C uc001fst.1 - 7 1019 c.820A>G c.(820-822)ACT>GCT p.T274A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 274 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATGGCTTCAGTCACATCCCTG 0.478000 CCDC19 25790 broad.mit.edu 37 1 159846399 159846399 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:159846399G>A uc001fui.2 - 10 1317 c.1299C>T c.(1297-1299)CAC>CAT p.H433H CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.H348H|CCDC19_uc001ful.2_Silent_p.H348H|CCDC19_uc009wtc.1_3'UTR NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 433 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CAGCCAGAGCGTGCTCCTTGA 0.542000 FMO1 2326 broad.mit.edu 37 1 171249946 171249946 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:171249946G>A uc009wvz.2 + 6 785 c.649G>A c.(649-651)GGG>AGG p.G217R FMO1_uc010pme.1_Missense_Mutation_p.G154R|FMO1_uc001ghl.2_Missense_Mutation_p.G217R|FMO1_uc001ghm.2_Missense_Mutation_p.G217R|FMO1_uc001ghn.2_Missense_Mutation_p.G217R NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 217 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCACCGGAGGGGGATGGGT 0.522000 RD3 343035 broad.mit.edu 37 1 211654555 211654555 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:211654555C>T uc001him.2 - 2 1367 c.203G>A c.(202-204)CGG>CAG p.R68Q RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 68 R -> W. response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) ATAGGTGGACCGGGGTGTGCT 0.607000 HLX 3142 broad.mit.edu 37 1 221057864 221057864 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:221057864G>A uc001hmv.3 + 4 1742 c.1285G>A c.(1285-1287)GGC>AGC p.G429S NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 429 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) gagcagcggcggcggcggcaa 0.229000 HEATR1 55127 broad.mit.edu 37 1 236730096 236730096 + Silent SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:236730096C>G uc001hyd.1 - 30 4283 c.4158G>C c.(4156-4158)GCG>GCC p.A1386A HEATR1_uc009xgh.1_Silent_p.A548A NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1386 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CGTGTGGCAGCGCATCCACAA 0.453000 RYR2 6262 broad.mit.edu 37 1 237753203 237753203 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:237753203G>C uc001hyl.1 + 30 3829 c.3709G>C c.(3709-3711)GAA>CAA p.E1237Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1237 Cytoplasmic (By similarity).|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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) AGAGGGCTATGAACCATTTGC 0.438000 RYR2 6262 broad.mit.edu 37 1 237777344 237777344 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:237777344T>C uc001hyl.1 + 37 5036 c.4916T>C c.(4915-4917)GTT>GCT p.V1639A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1639 Cytoplasmic (By similarity).|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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) TACAGATCTGTTGACATCTTA 0.423000 LARP4B 23185 broad.mit.edu 37 10 858975 858975 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:858975G>C uc001ifs.1 - 17 2149 c.2108C>G c.(2107-2109)CCT>CGT p.P703R NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 703 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GGGGGCTCCAGGTGTGGACTT 0.532000 OPTN 10133 broad.mit.edu 37 10 13178767 13178767 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:13178767G>A uc001ilu.1 + 16 2073 c.1635G>A c.(1633-1635)CGG>CGA p.R545R OPTN_uc001ilv.1_Silent_p.R545R|OPTN_uc001ilw.1_Silent_p.R545R|OPTN_uc001ilx.1_Silent_p.R545R|OPTN_uc001ily.1_Silent_p.R539R|OPTN_uc010qbr.1_Silent_p.R488R|OPTN_uc001ilz.1_Silent_p.R539R NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 545 Interaction with HD. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 GGGACTGGCGGCAACAGCGGA 0.458000 APBB1IP 54518 broad.mit.edu 37 10 26800822 26800822 + Silent SNP G G A rs142075664 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:26800822G>A uc001iss.2 + 7 999 c.678G>A c.(676-678)CCG>CCA p.P226P APBB1IP_uc009xks.1_Silent_p.P226P NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 226 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AAATCTACCCGGAACTACAAA 0.453000 NEUROG3 50674 broad.mit.edu 37 10 71332375 71332375 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:71332375G>T uc001jpp.2 - 2 583 c.425C>A c.(424-426)GCG>GAG p.A142E NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 142 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 GCTGTGGTCCGCTATGCGCAG 0.682000 DUPD1 338599 broad.mit.edu 37 10 76803766 76803766 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:76803766C>T uc001jwq.1 - 2 210 c.210G>A c.(208-210)GCG>GCA p.A70A NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 70 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AGCGGTCCAGCGCCGTCGCCC 0.697000 NRG3 10718 broad.mit.edu 37 10 84711235 84711235 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:84711235A>C uc001kco.2 + 5 1092 c.1065A>C c.(1063-1065)GAA>GAC p.E355D NRG3_uc010qlz.1_Missense_Mutation_p.E354D|NRG3_uc001kcp.2_Missense_Mutation_p.E134D|NRG3_uc001kcq.2_Missense_Mutation_p.E5D|NRG3_uc001kcr.2_Missense_Mutation_p.E5D NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 355 Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGAGTGAAGAAGTTTATCAAA 0.408000 C10orf129 142827 broad.mit.edu 37 10 96972614 96972614 + Splice_Site SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:96972614G>C uc001kke.2 + 7 1038 c.913_splice c.e7-1 p.V305_splice C10orf129_uc009xuu.1_Splice_Site_p.V215_splice NM_207321 NP_997204 Q6P461 ACSM6_HUMAN acyl-coenzyme A synthetase ACSM6, mitochondrial fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TTGGGGCCCAGGTCCTGTCCA 0.527000 HPS6 79803 broad.mit.edu 37 10 103826688 103826688 + Missense_Mutation SNP C C A rs139679441 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:103826688C>A uc001kuj.2 + 1 1542 c.1457C>A c.(1456-1458)GCG>GAG p.A486E NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 486 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) ACTGAGCTGGCGGAGCAGGAA 0.592000 Hermansky-Pudlak_syndrome DHX32 55760 broad.mit.edu 37 10 127542584 127542584 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:127542584C>A uc001ljf.1 - 4 1529 c.1038G>T c.(1036-1038)TTG>TTT p.L346F DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.L346F|DHX32_uc009yam.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 346 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGCTCCAGATCAAAAACTCTC 0.383000 DPYSL4 10570 broad.mit.edu 37 10 134006169 134006169 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr10:134006169G>A uc009ybb.2 + 3 290 c.136G>A c.(136-138)GGA>AGA p.G46R NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 46 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CAGACAAATCGGAGAAAACCT 0.567000 NUP98 4928 broad.mit.edu 37 11 3697502 3697502 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:3697502G>A uc001lyh.2 - 33 5581 c.5290C>T c.(5290-5292)CGC>TGC p.R1764C NUP98_uc001lyi.2_Missense_Mutation_p.R1690C|NUP98_uc001lyg.2_Missense_Mutation_p.R729C NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1781 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GCCAAGAGGCGCAAAGGGACT 0.592000 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML SPON1 10418 broad.mit.edu 37 11 14276115 14276115 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:14276115G>A uc001mle.2 + 9 1470 c.932G>A c.(931-933)CGC>CAC p.R311H NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 311 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GACAGAACGCGCCATTTAATG 0.507000 API5 8539 broad.mit.edu 37 11 43352088 43352088 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:43352088A>G uc010rfh.1 + 11 1425 c.1252A>G c.(1252-1254)ACA>GCA p.T418A API5_uc010rfg.1_Missense_Mutation_p.T407A|API5_uc001mxf.2_Missense_Mutation_p.T418A|API5_uc010rfi.1_Missense_Mutation_p.T364A|API5_uc001mxg.2_Missense_Mutation_p.T292A NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 418 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ATTGAAAATAACAAACAATAT 0.289000 MADD 8567 broad.mit.edu 37 11 47350618 47350618 + Missense_Mutation SNP G G A rs140803760 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:47350618G>A uc001ner.1 + 36 5052 c.4861G>A c.(4861-4863)GTA>ATA p.V1621I MADD_uc001neq.2_Missense_Mutation_p.V1562I|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.V1539I|MADD_uc001net.1_Missense_Mutation_p.V1582I|MADD_uc009yln.1_Missense_Mutation_p.V1515I|MADD_uc001neu.1_Missense_Mutation_p.V1519I|MADD_uc001nex.2_3'UTR|MADD_uc001nez.2_Missense_Mutation_p.V1518I|MADD_uc001new.2_Missense_Mutation_p.V1561I NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1621 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CTGCTACTCCGTATTATGTCT 0.537000 OR4A47 403253 broad.mit.edu 37 11 48510526 48510526 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:48510526T>C uc010rhx.1 + 1 182 c.182T>C c.(181-183)CTT>CCT p.L61P NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TACTTCTTTCTTGCTGGCTTA 0.408000 OR4A5 81318 broad.mit.edu 37 11 51411522 51411522 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:51411522T>G uc001nhi.1 - 1 874 c.874A>C c.(874-876)AGA>CGA p.R292R NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 292 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ATAGCATTTCTCATCTCTGAA 0.343000 OR4C16 219428 broad.mit.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:55340006A>C uc010rih.1 + 1 403 c.403A>C c.(403-405)AGC>CGC p.S135R NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GACCATCATAAGCCAGTGGGT 0.507000 OR4C6 219432 broad.mit.edu 37 11 55432670 55432670 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:55432670T>A uc001nht.3 + 3 293 c.28T>A c.(28-30)TTC>ATC p.F10I OR4C6_uc010rik.1_Missense_Mutation_p.F10I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTGACTGAATTCATTCTTCT 0.363000 OR8H3 390152 broad.mit.edu 37 11 55890015 55890015 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:55890015T>G uc001nii.1 + 1 167 c.167T>G c.(166-168)CTT>CGT p.L56R NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) GACCTCCAGCTTCACACTCCC 0.438000 OR5T2 219464 broad.mit.edu 37 11 56000460 56000460 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:56000460A>C uc010rjc.1 - 1 202 c.202T>G c.(202-204)TTC>GTC p.F68V NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 68 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AGAAACAGGAAGAAGAAGATA 0.388000 OR5T1 390155 broad.mit.edu 37 11 56044028 56044028 + Missense_Mutation SNP G G A rs143790336 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:56044028G>A uc001nio.1 + 1 914 c.914G>A c.(913-915)CGG>CAG p.R305Q NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TACAGTTTGCGGAACAAAGAT 0.343000 OR5R1 219479 broad.mit.edu 37 11 56184767 56184767 + Missense_Mutation SNP T T C rs140012472 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:56184767T>C uc010rji.1 - 1 942 c.942A>G c.(940-942)ATA>ATG p.I314M NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 314 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAAATGTTAATATCTGTAAGT 0.299000 CTSW 1521 broad.mit.edu 37 11 65650818 65650818 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:65650818C>G uc001ogc.1 + 9 985 c.943C>G c.(943-945)CAG>GAG p.Q315E CTSW_uc001ogb.1_Missense_Mutation_p.Q315E NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 315 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) AGTCTCATCGCAGTCTCAGCC 0.592000 UNC93B1 81622 broad.mit.edu 37 11 67766770 67766770 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:67766770G>A uc001omw.1 - 5 640 c.560C>T c.(559-561)GCG>GTG p.A187V NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 187 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome 0 GTACTTCTGCGCCATCCTGGA 0.632000 FOLR1 2348 broad.mit.edu 37 11 71907066 71907066 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:71907066G>A uc001orz.1 + 6 757 c.619G>A c.(619-621)GGC>AGC p.G207S FOLR1_uc001osa.1_Missense_Mutation_p.G207S|FOLR1_uc001osb.1_Missense_Mutation_p.G207S|FOLR1_uc001osc.1_Missense_Mutation_p.G207S|FOLR1_uc001osd.1_Missense_Mutation_p.G207S NM_016724 NP_057936 P15328 FOLR1_HUMAN folate receptor 1 precursor 207 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity ovary(1) 1 CCGAGGGAGTGGCCGCTGCAT 0.587000 FAT3 120114 broad.mit.edu 37 11 92087018 92087018 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:92087018A>G uc001pdj.3 + 1 1757 c.1740A>G c.(1738-1740)AAA>AAG p.K580K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 580 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTTTGAAAAAGTGGCTTGCC 0.443000 TCGA Ovarian(4;0.039) HEPHL1 341208 broad.mit.edu 37 11 93844120 93844120 + Nonsense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:93844120C>T uc001pep.2 + 18 3254 c.3097C>T c.(3097-3099)CAA>TAA p.Q1033* uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1033 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGGGACATTCCAAACCATTGA 0.443000 TRPC6 7225 broad.mit.edu 37 11 101362341 101362341 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:101362341G>A uc001pgk.3 - 3 1499 c.1074C>T c.(1072-1074)CAC>CAT p.H358H TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Silent_p.H358H NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 358 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTGGGCGACCGTGATCACCAC 0.433000 DCUN1D5 84259 broad.mit.edu 37 11 102937031 102937031 + Nonsense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:102937031C>T uc001phm.2 - 6 790 c.522G>A c.(520-522)TGG>TGA p.W174* DCUN1D5_uc010ruw.1_Nonsense_Mutation_p.W105* NM_032299 NP_115675 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain 174 DCUN1. 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) AAAACAGTGGCCATGTCCTCC 0.313000 PRDM10 56980 broad.mit.edu 37 11 129775606 129775606 + Missense_Mutation SNP G G T rs140045693 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:129775606G>T uc001qfm.2 - 21 3438 c.3206C>A c.(3205-3207)CCG>CAG p.P1069Q PRDM10_uc001qfj.2_Missense_Mutation_p.P970Q|PRDM10_uc001qfk.2_Missense_Mutation_p.P932Q|PRDM10_uc001qfl.2_Missense_Mutation_p.P983Q|PRDM10_uc010sbx.1_Missense_Mutation_p.P979Q|PRDM10_uc001qfn.2_Missense_Mutation_p.P1065Q NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 1056 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AAACTGACCCGGAGGAAGCGT 0.428000 TULP3 7289 broad.mit.edu 37 12 3047401 3047401 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:3047401G>A uc010seh.1 + 10 1226 c.1145G>A c.(1144-1146)CGG>CAG p.R382Q TULP3_uc009zec.1_Missense_Mutation_p.R109Q|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R382Q|TULP3_uc010sei.1_Missense_Mutation_p.R206Q NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 382 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TTCCGTGGCCGGGTCACTCAG 0.532000 PRMT8 56341 broad.mit.edu 37 12 3649831 3649831 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:3649831C>T uc001qmf.2 + 2 502 c.135C>T c.(133-135)TGC>TGT p.C45C PRMT8_uc009zed.2_Silent_p.C36C|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 45 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCGTGCAATGCGTCCATCATG 0.602000 AKAP3 10566 broad.mit.edu 37 12 4735889 4735889 + Nonsense_Mutation SNP C C A rs74060068 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:4735889C>A uc001qnb.3 - 4 2408 c.2179G>T c.(2179-2181)GAA>TAA p.E727* NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 727 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 AGGACAGCTTCTGCTGACCCT 0.522000 NOP2 4839 broad.mit.edu 37 12 6670217 6670217 + Silent SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:6670217C>G uc001qph.1 - 12 1395 c.1215G>C c.(1213-1215)ACG>ACC p.T405T NOP2_uc009zeq.1_Silent_p.T121T|NOP2_uc001qpi.1_Silent_p.T405T|NOP2_uc001qpj.1_Intron NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 409 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 GGATCACACCCGTGTTCTTCA 0.542000 WBP11 51729 broad.mit.edu 37 12 14949824 14949824 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:14949824C>T uc001rci.2 - 5 465 c.304G>A c.(304-306)GAT>AAT p.D102N NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 102 Potential. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 TTGTAAATATCTGGATTCTCT 0.353000 PLEKHA5 54477 broad.mit.edu 37 12 19427792 19427792 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:19427792T>C uc001reb.2 + 10 1256 c.1170T>C c.(1168-1170)AAT>AAC p.N390N PLEKHA5_uc010sie.1_Silent_p.N396N|PLEKHA5_uc001rea.2_Silent_p.N390N|PLEKHA5_uc009zin.2_Silent_p.N148N|PLEKHA5_uc010sif.1_Silent_p.N282N|PLEKHA5_uc010sig.1_Silent_p.N282N|PLEKHA5_uc010sih.1_Silent_p.N282N|PLEKHA5_uc001rec.1_Silent_p.N78N NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 390 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GAGGTGGAAATCGCCCCAATA 0.468000 PDE3A 5139 broad.mit.edu 37 12 20833192 20833192 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:20833192A>C uc001reh.1 + 16 3435 c.3413A>C c.(3412-3414)AAG>ACG p.K1138T NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 1138 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCAACCCAAAAGCCAGACCAG 0.468000 GYS2 2998 broad.mit.edu 37 12 21728967 21728967 + Nonsense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:21728967C>A uc001rfb.2 - 3 583 c.328G>T c.(328-330)GAA>TAA p.E110* NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 110 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GGACTTCCTTCTATCAGCCAT 0.443000 CNTN1 1272 broad.mit.edu 37 12 41421693 41421693 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:41421693A>G uc001rmm.1 + 22 2858 c.2745A>G c.(2743-2745)GTA>GTG p.V915V CNTN1_uc001rmn.1_Silent_p.V904V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 915 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCAGTTCAGTAAGGTCTGGTT 0.393000 PRPH 5630 broad.mit.edu 37 12 49689232 49689232 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:49689232C>T uc001rtu.2 + 1 324 c.249C>T c.(247-249)GCC>GCT p.A83A NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 83 Head. structural molecule activity 0 TCTCCATGGCCGAGGCCCTCA 0.687000 KRT75 9119 broad.mit.edu 37 12 52818448 52818448 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:52818448G>A uc001saj.2 - 9 1531 c.1509C>T c.(1507-1509)TCC>TCT p.S503S NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 503 Tail. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) TGGTGGTGAAGGAGTAGCCGC 0.627000 KRT75 9119 broad.mit.edu 37 12 52827681 52827681 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:52827681C>T uc001saj.2 - 1 430 c.408G>A c.(406-408)CTG>CTA p.L136L NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 136 Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GGTCGATTTGCAGGTGAAGAG 0.597000 EIF4B 1975 broad.mit.edu 37 12 53421886 53421886 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:53421886A>G uc001sbh.3 + 8 1099 c.893A>G c.(892-894)TAT>TGT p.Y298C EIF4B_uc010snu.1_Missense_Mutation_p.Y298C|EIF4B_uc010snv.1_Missense_Mutation_p.Y259C|EIF4B_uc001sbi.2_Missense_Mutation_p.Y50C NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 298 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 GGGGACCGCTATGAAGACCGA 0.488000 NPFF 8620 broad.mit.edu 37 12 53900648 53900648 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:53900648C>T uc001sdw.1 - 3 418 c.254G>A c.(253-255)AGG>AAG p.R85K NM_003717 NP_003708 O15130 NPFF_HUMAN neuropeptide FF-amide peptide preproprotein 85 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 CCATTCATTCCTCCAGGATCC 0.562000 OR6C70 390327 broad.mit.edu 37 12 55862995 55862995 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:55862995A>T uc010spn.1 - 1 928 c.928T>A c.(928-930)TCA>ACA p.S310T NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TACTTGTCTGAAGCAGAAAAT 0.308000 RDH5 5959 broad.mit.edu 37 12 56118266 56118266 + Silent SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:56118266A>C uc001shk.2 + 5 1077 c.894A>C c.(892-894)CCA>CCC p.P298P RDH5_uc001shl.2_Silent_p.P298P NM_002905 NP_002896 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis and 9-cis) 298 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity ovary(1) 1 NADH(DB00157)|Vitamin A(DB00162) CCTACCTGCCAGCCAGCCTGG 0.607000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RAB5B 5869 broad.mit.edu 37 12 56383868 56383868 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:56383868G>A uc001siv.2 + 3 418 c.301G>A c.(301-303)GAC>AAC p.D101N RAB5B_uc001siw.2_Missense_Mutation_p.D101N|RAB5B_uc009zog.2_Intron|RAB5B_uc010spz.1_Missense_Mutation_p.D101N NM_002868 NP_002859 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 101 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) CGTGGTTTACGACATTACTAA 0.348000 CS 1431 broad.mit.edu 37 12 56679734 56679734 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:56679734C>T uc001sks.1 - 3 357 c.167G>A c.(166-168)GGC>GAC p.G56D CS_uc010sql.1_Missense_Mutation_p.G43D|CS_uc001skr.1_5'UTR|CS_uc001skt.1_Missense_Mutation_p.G11D|CS_uc010sqm.1_5'UTR NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 56 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CACCGTCTTGCCATGTTGCTG 0.438000 NAV3 89795 broad.mit.edu 37 12 78515734 78515734 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:78515734A>T uc001syp.2 + 16 3937 c.3764A>T c.(3763-3765)AAG>ATG p.K1255M NAV3_uc001syo.2_Missense_Mutation_p.K1255M|NAV3_uc010sub.1_Missense_Mutation_p.K755M|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1255 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTTGGTGCCAAGGCAGGTGGC 0.443000 HNSCC(70;0.22) PLEKHG7 440107 broad.mit.edu 37 12 93148040 93148040 + Missense_Mutation SNP C C T rs115752910 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:93148040C>T uc001tcj.2 + 6 720 c.490C>T c.(490-492)CGG>TGG p.R164W NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 164 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 AAAGTCCATCCGTAAGTCCCT 0.438000 FGD6 55785 broad.mit.edu 37 12 95604081 95604081 + Missense_Mutation SNP G G A rs138823345 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:95604081G>A uc001tdp.3 - 2 1203 c.979C>T c.(979-981)CGC>TGC p.R327C FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 327 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CACTTTTGGCGTAACAGACGA 0.408000 STAB2 55576 broad.mit.edu 37 12 104157271 104157271 + Nonsense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:104157271C>A uc001tjw.2 + 68 7676 c.7490C>A c.(7489-7491)TCG>TAG p.S2497* STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2497 Cytoplasmic (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TCCAAACAGTCGGAAGAGGAC 0.532000 KSR2 283455 broad.mit.edu 37 12 118198882 118198882 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:118198882G>A uc001two.2 - 4 888 c.833C>T c.(832-834)GCG>GTG p.A278V NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 307 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGATGCAGCGCGGTGAATCC 0.667000 CLIP1 6249 broad.mit.edu 37 12 122763599 122763599 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr12:122763599G>A uc001ucg.1 - 21 3847 c.3741C>T c.(3739-3741)GCC>GCT p.A1247A CLIP1_uc001uch.1_Silent_p.A1236A|CLIP1_uc001uci.1_Silent_p.A1201A|CLIP1_uc001ucj.1_Silent_p.A822A NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1247 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCTCCAGCTCGGCATCCTTTT 0.458000 ZDHHC20 253832 broad.mit.edu 37 13 22033233 22033233 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:22033233G>A uc001uob.2 - 1 191 c.78C>T c.(76-78)GTC>GTT p.V26V ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_5'UTR NM_153251 NP_694983 Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 26 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) AGGACCAGACGACCACGAAGG 0.602000 FAM123A 219287 broad.mit.edu 37 13 25744011 25744011 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:25744011G>A uc001uqb.2 - 1 1847 c.1747C>T c.(1747-1749)CGG>TGG p.R583W FAM123A_uc001uqa.2_Missense_Mutation_p.R464W|FAM123A_uc001uqc.2_Missense_Mutation_p.R464W NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 583 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGCTTTAACCGGGACAGGGAG 0.572000 NBEA 26960 broad.mit.edu 37 13 35733293 35733293 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:35733293A>C uc001uvb.2 + 23 3191 c.2985A>C c.(2983-2985)AAA>AAC p.K995N NBEA_uc010abi.2_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 995 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 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) CAGGAGCAAAAGGTGGAATGG 0.428000 MAB21L1 4081 broad.mit.edu 37 13 36049942 36049942 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:36049942G>C uc001uvc.2 - 1 891 c.334C>G c.(334-336)CTC>GTC p.L112V NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 112 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) TCCACCCAGAGGGACATGCTC 0.577000 CCNA1 8900 broad.mit.edu 37 13 37014128 37014128 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:37014128G>A uc001uvr.3 + 6 1256 c.906G>A c.(904-906)GAG>GAA p.E302E CCNA1_uc010teo.1_Silent_p.E258E|CCNA1_uc010abq.2_Silent_p.E258E|CCNA1_uc010abp.2_Silent_p.E258E|CCNA1_uc001uvs.3_Silent_p.E301E|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 302 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AATATGAAGAGATATATCCTC 0.418000 SLITRK6 84189 broad.mit.edu 37 13 86370524 86370524 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:86370524T>G uc001vll.1 - 2 579 c.120A>C c.(118-120)AAA>AAC p.K40N SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 40 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTGTGCCATCTTTTTCCTCAC 0.383000 FGF14 2259 broad.mit.edu 37 13 102527574 102527574 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:102527574C>A uc001vpe.2 - 2 266 c.266G>T c.(265-267)GGA>GTA p.G89V FGF14_uc001vpf.2_Missense_Mutation_p.G94V NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 89 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCGAGAGCTCCATCGGGGTG 0.448000 F10 2159 broad.mit.edu 37 13 113803380 113803380 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr13:113803380C>T uc001vsx.2 + 8 1073 c.1016C>T c.(1015-1017)GCG>GTG p.A339V F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 339 Peptidase S1. 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 pancreas(1) 1 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) ATGAACGTGGCGCCTGCCTGC 0.637000 OR4M1 441670 broad.mit.edu 37 14 20249095 20249095 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:20249095T>C uc010tku.1 + 1 614 c.614T>C c.(613-615)CTG>CCG p.L205P NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTAGTGGTCTGATCTCTGTG 0.473000 SALL2 6297 broad.mit.edu 37 14 21992247 21992247 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:21992247C>T uc001wbe.2 - 2 1897 c.1615G>A c.(1615-1617)GTG>ATG p.V539M SALL2_uc010tly.1_Missense_Mutation_p.V537M|SALL2_uc010tlz.1_Missense_Mutation_p.V402M|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.V404M|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 539 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CTTTCTGCCACTCCACTGATG 0.507000 MYH7 4625 broad.mit.edu 37 14 23887536 23887536 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:23887536G>A uc001wjx.2 - 30 4158 c.4052C>T c.(4051-4053)ACG>ATG p.T1351M MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1351 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTGGCCTCCGTCTCCTCCTC 0.672000 WDHD1 11169 broad.mit.edu 37 14 55467294 55467294 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:55467294T>A uc001xbm.1 - 10 947 c.869A>T c.(868-870)TAT>TTT p.Y290F WDHD1_uc001xbn.1_Missense_Mutation_p.Y167F NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 290 WD 7. cytoplasm|nucleoplasm DNA binding skin(1) 1 CGCATCAGTATACGATATTCG 0.393000 SYT16 83851 broad.mit.edu 37 14 62550996 62550996 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:62550996C>T uc001xfu.1 + 5 1714 c.1517C>T c.(1516-1518)GCG>GTG p.A506V SYT16_uc010tse.1_Missense_Mutation_p.A64V NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 506 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CATGGAGGGGCGCCAGAGCTG 0.552000 SYNE2 23224 broad.mit.edu 37 14 64488618 64488618 + Nonsense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:64488618T>G uc001xgm.2 + 37 5626 c.5396T>G c.(5395-5397)TTA>TGA p.L1799* SYNE2_uc001xgl.2_Nonsense_Mutation_p.L1799* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1799 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTATGATATTACTTGAGAAT 0.308000 FNTB 2342 broad.mit.edu 37 14 65507516 65507516 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:65507516A>G uc001xia.2 + 8 866 c.701A>G c.(700-702)AAC>AGC p.N234S FNTB_uc010tsl.1_Missense_Mutation_p.N268S|FNTB_uc010tsm.1_Missense_Mutation_p.N188S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_5'UTR|FNTB_uc010tso.1_Missense_Mutation_p.N149S NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 234 PFTB 3. protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGGTGTCAGAACTGGGAAGGT 0.537000 ACTN1 87 broad.mit.edu 37 14 69347567 69347567 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:69347567G>A uc001xkl.2 - 17 2403 c.2093C>T c.(2092-2094)GCG>GTG p.A698V ACTN1_uc001xkk.2_Missense_Mutation_p.A294V|ACTN1_uc010ttb.1_Missense_Mutation_p.A633V|ACTN1_uc001xkm.2_Missense_Mutation_p.A698V|ACTN1_uc001xkn.2_Missense_Mutation_p.A698V|ACTN1_uc010ttc.1_Missense_Mutation_p.A283V NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 698 Spectrin 4.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GAAGATGAGCGCCTCCTGGAT 0.582000 FLRT2 23768 broad.mit.edu 37 14 86089096 86089096 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:86089096G>A uc001xvr.2 + 2 2005 c.1238G>A c.(1237-1239)GGC>GAC p.G413D FLRT2_uc010atd.2_Missense_Mutation_p.G413D NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 413 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GACTGGGATGGCAGAGAAAGA 0.502000 EML1 2009 broad.mit.edu 37 14 100381009 100381009 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:100381009G>A uc001ygs.2 + 15 1796 c.1727G>A c.(1726-1728)CGT>CAT p.R576H EML1_uc010tww.1_Missense_Mutation_p.R564H|EML1_uc001ygr.2_Missense_Mutation_p.R595H NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 576 WD 6. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) GTGGGTCACCGTCCCGTCTGG 0.438000 ADSSL1 122622 broad.mit.edu 37 14 105211180 105211180 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:105211180G>A uc001ypd.2 + 11 1179 c.1105G>A c.(1105-1107)GTA>ATA p.V369I INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.V412I|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 369 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CATCCTGGACGTACTGGGTGA 0.557000 AHNAK2 113146 broad.mit.edu 37 14 105408763 105408763 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr14:105408763T>C uc010axc.1 - 7 13145 c.13025A>G c.(13024-13026)AAG>AGG p.K4342R AHNAK2_uc001ypx.2_Missense_Mutation_p.K4242R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4342 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGAGTGGTCTTCAGGTCCCC 0.632000 MKRN3 7681 broad.mit.edu 37 15 23811376 23811376 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:23811376C>T uc001ywh.3 + 1 923 c.447C>T c.(445-447)ATC>ATT p.I149I MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.I149I NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 149 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 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) CTGCGCACATCGAGCCCCCGA 0.642000 GABRB3 2562 broad.mit.edu 37 15 27184420 27184420 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:27184420A>T uc001zbb.2 - 1 267 c.164T>A c.(163-165)TTC>TAC p.F55Y GABRA5_uc001zbd.1_Intron NM_021912 NP_068712 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta Error:Variant_position_missing_in_P28472_after_alignment 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 upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 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) CTCAGCAATGAATGGGAGGTC 0.582000 MYO5C 55930 broad.mit.edu 37 15 52517670 52517670 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:52517670C>T uc010bff.2 - 26 3404 c.3267G>A c.(3265-3267)GAG>GAA p.E1089E MYO5C_uc010uga.1_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 1089 Potential. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GCACATGTTTCTCCACATCTA 0.393000 MYO5C 55930 broad.mit.edu 37 15 52534277 52534277 + Nonsense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:52534277G>A uc010bff.2 - 20 2661 c.2524C>T c.(2524-2526)CGA>TGA p.R842* MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 842 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) AGGAATCCTCGGCTGTAGGCC 0.542000 NEDD4 4734 broad.mit.edu 37 15 56208746 56208746 + Missense_Mutation SNP C C T rs146216406 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:56208746C>T uc002adj.2 - 1 584 c.284G>A c.(283-285)AGG>AAG p.R95K NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.R95K|NEDD4_uc010ugj.1_Missense_Mutation_p.R95K|NEDD4_uc010bfm.2_Missense_Mutation_p.R95K|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 95 Ser-rich. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCCACTGTACCTTGTTGGCTG 0.383000 MEGF11 84465 broad.mit.edu 37 15 66209284 66209284 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:66209284G>A uc002apm.2 - 17 2238 c.2097C>T c.(2095-2097)CCC>CCT p.P699P MEGF11_uc002apl.2_Silent_p.P624P|MEGF11_uc002apn.1_Silent_p.P699P NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 699 basolateral plasma membrane|integral to membrane pancreas(1) 1 CCCAGAACCCGGGTGGGCAAG 0.493000 OREG0023198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARNT2 9915 broad.mit.edu 37 15 80743252 80743252 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr15:80743252G>A uc002bfr.2 + 2 229 c.63G>A c.(61-63)ACG>ACA p.T21T ARNT2_uc002bfq.2_Silent_p.T21T|ARNT2_uc010unm.1_Silent_p.T10T|ARNT2_uc002bfs.2_Silent_p.T10T NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 21 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GATCTGTGACGTTGCCCGTTG 0.552000 MYH11 4629 broad.mit.edu 37 16 15797934 15797934 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:15797934G>A uc002ddy.2 - 41 5940 c.5833C>T c.(5833-5835)CGT>TGT p.R1945C MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.R1952C|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1945 Carboxyl-terminal. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 ATAACTCTACGTCCTCCAGAC 0.443000 T CBFB AML SCNN1B 6338 broad.mit.edu 37 16 23360100 23360100 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:23360100C>T uc002dln.2 + 2 356 c.180C>T c.(178-180)GCC>GCT p.A60A NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 60 Helical; (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGCTCTTCGCCGCCCTCGTCT 0.597000 ATP2A1 487 broad.mit.edu 37 16 28890083 28890083 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:28890083C>T uc002dro.1 + 1 275 c.91C>T c.(91-93)CGG>TGG p.R31W uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R31W|ATP2A1_uc002drp.1_5'Flank NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 31 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCAAGTTAAGCGGAATCTGGA 0.547000 CBLN1 869 broad.mit.edu 37 16 49313471 49313471 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:49313471G>A uc002efq.2 - 3 765 c.426C>T c.(424-426)TTC>TTT p.F142F NM_004352 NP_004343 P23435 CBLN1_HUMAN cerebellin 1 precursor 142 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse 0 all_cancers(37;0.0766)|all_lung(18;0.24) GGTCACCAGCGAAGGCTGAAA 0.607000 CDH8 1006 broad.mit.edu 37 16 61851476 61851476 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:61851476G>T uc002eog.1 - 7 1436 c.1184C>A c.(1183-1185)ACT>AAT p.T395N CDH8_uc002eoh.2_Missense_Mutation_p.T164N NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 395 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AAGTAGGTAAGTCGGTGAAGA 0.483000 CDH11 1009 broad.mit.edu 37 16 64981966 64981966 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:64981966T>G uc002eoi.2 - 13 2365 c.1931A>C c.(1930-1932)AAG>ACG p.K644T CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.K518T NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 644 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGGTTCTTTCTTTTGCCTTCT 0.428000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) HYDIN 54768 broad.mit.edu 37 16 70986528 70986528 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:70986528T>G uc002ezr.2 - 41 6452 c.6324A>C c.(6322-6324)GCA>GCC p.A2108A NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2109 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GACCCACAGCTGCCTCCTGGG 0.468000 NECAB2 54550 broad.mit.edu 37 16 84024157 84024157 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:84024157C>T uc002fhd.2 + 6 535 c.518C>T c.(517-519)ACG>ATG p.T173M NECAB2_uc002fhe.2_Missense_Mutation_p.T90M NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 173 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 CTGAAGGAGACGGCCAATCAG 0.597000 HSDL1 83693 broad.mit.edu 37 16 84163759 84163759 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr16:84163759G>A uc002fhk.2 - 4 682 c.498C>T c.(496-498)TCC>TCT p.S166S HSDL1_uc010vnv.1_Silent_p.S111S NM_031463 NP_113651 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 isoform a 166 mitochondrion oxidoreductase activity|protein binding 0 GCTTGTCCTCGGACAGCTGAG 0.483000 C17orf97 400566 broad.mit.edu 37 17 263226 263226 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:263226C>T uc002frh.2 + 2 608 c.592C>T c.(592-594)CGG>TGG p.R198W C17orf97_uc010vpz.1_5'Flank NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN hypothetical protein LOC400566 198 ovary(1) 1 AAAACGGTACCGGTGCTTGGC 0.607000 OR3A2 4995 broad.mit.edu 37 17 3181605 3181605 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:3181605A>T uc002fvg.2 - 1 664 c.625T>A c.(625-627)TTT>ATT p.F209I NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 209 Helical; Name=5; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CCCACAGCAAAGAGCAGCAGC 0.542000 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) NCOR1 9611 broad.mit.edu 37 17 16042436 16042436 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:16042436C>T uc002gpo.2 - 12 1478 c.1238G>A c.(1237-1239)AGA>AAA p.R413K NCOR1_uc002gpn.2_Missense_Mutation_p.R413K|NCOR1_uc002gpp.1_Missense_Mutation_p.R304K|NCOR1_uc002gpr.2_Missense_Mutation_p.R304K|NCOR1_uc002gps.1_Missense_Mutation_p.R422K|NCOR1_uc010coz.1_Missense_Mutation_p.R229K|NCOR1_uc010cpb.1_Missense_Mutation_p.R422K|NCOR1_uc010cpa.1_Missense_Mutation_p.R413K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 413 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTGACTCGTCTTTGTTCTGC 0.358000 ZNF624 57547 broad.mit.edu 37 17 16526150 16526150 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:16526150T>C uc010cpi.1 - 6 2133 c.2050A>G c.(2050-2052)ACC>GCC p.T684A NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 684 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGGTGCACGGTAAGCTGTGAT 0.383000 TOP3A 7156 broad.mit.edu 37 17 18208465 18208465 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:18208465C>T uc002gsx.1 - 5 689 c.460G>A c.(460-462)GAA>AAA p.E154K TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.E52K|TOP3A_uc010cqa.1_RNA NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 154 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CCGATGTTTTCGCCTTCTCTA 0.468000 NUFIP2 57532 broad.mit.edu 37 17 27613685 27613685 + Missense_Mutation SNP G G C rs140549572 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:27613685G>C uc002hdy.3 - 2 1416 c.1327C>G c.(1327-1329)CTA>GTA p.L443V NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 443 nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATGGGTGTTAGAGTATTAGCA 0.438000 G6PC 2538 broad.mit.edu 37 17 41063341 41063341 + Silent SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:41063341C>A uc002icb.1 + 5 1051 c.972C>A c.(970-972)GTC>GTA p.V324V G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 324 Helical; (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCTTCTACGTCTTGTCCTTCT 0.592000 Glycogen_Storage_Disease_type_Ia CACNG5 27091 broad.mit.edu 37 17 64880742 64880742 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:64880742G>A uc010wqi.1 + 5 771 c.534G>A c.(532-534)TCG>TCA p.S178S CACNG5_uc002jfr.2_Silent_p.S178S|CACNG5_uc010wqj.1_Silent_p.S178S NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 178 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) ATGGGTGGTCGTTTGCCTTCG 0.562000 BAIAP2 10458 broad.mit.edu 37 17 79077493 79077493 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:79077493G>T uc002jzg.2 + 8 942 c.834G>T c.(832-834)CCG>CCT p.P278P BAIAP2_uc002jyz.3_Silent_p.P278P|BAIAP2_uc002jza.2_Silent_p.P278P|BAIAP2_uc002jzc.2_Silent_p.P278P|BAIAP2_uc002jzb.2_Silent_p.P35P|BAIAP2_uc002jzd.2_Silent_p.P278P|BAIAP2_uc002jzf.2_Silent_p.P278P|BAIAP2_uc002jze.2_Silent_p.P311P|BAIAP2_uc010wuh.1_Silent_p.P200P|BAIAP2_uc002jzh.2_Silent_p.P279P|BAIAP2_uc010wui.1_Silent_p.P141P NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 278 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AGCCCCTGCCGGTGCCCCCCG 0.697000 PCYT2 5833 broad.mit.edu 37 17 79864773 79864773 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr17:79864773C>T uc002kcf.1 - 7 602 c.539G>A c.(538-540)TGC>TAC p.C180Y PCYT2_uc010wva.1_Missense_Mutation_p.C148Y|PCYT2_uc010wvb.1_Missense_Mutation_p.C148Y|PCYT2_uc002kce.1_Missense_Mutation_p.C102Y|PCYT2_uc002kcg.1_Missense_Mutation_p.C209Y|PCYT2_uc002kch.1_Missense_Mutation_p.C198Y|PCYT2_uc002kci.1_Missense_Mutation_p.C139Y|PCYT2_uc010dii.1_Missense_Mutation_p.C180Y|PCYT2_uc010wvc.1_Missense_Mutation_p.C102Y NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 180 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCCACCAGGGCACTGCAAGCC 0.632000 RIT2 6014 broad.mit.edu 37 18 40323674 40323674 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr18:40323674T>G uc002lav.2 - 5 611 c.438A>C c.(436-438)GAA>GAC p.E146D RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 146 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TCAAGCCTTCTTCTGTAGAAA 0.348000 OR2Z1 284383 broad.mit.edu 37 19 8841983 8841983 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:8841983C>T uc010xkg.1 + 1 593 c.593C>T c.(592-594)GCG>GTG p.A198V NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 TACGAGATGGCGCTGTCCACC 0.562000 OREG0007662 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) FBXL12 54850 broad.mit.edu 37 19 9922149 9922149 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:9922149T>C uc002mme.2 - 3 646 c.404A>G c.(403-405)GAG>GGG p.E135G FBXL12_uc002mmd.2_Missense_Mutation_p.E82G|FBXL12_uc002mmf.2_Missense_Mutation_p.E82G|FBXL12_uc002mmg.2_Missense_Mutation_p.E82G|FBXL12_uc002mmh.2_Missense_Mutation_p.E82G NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 135 protein binding lung(1)|kidney(1) 2 CATGGAGATCTCGCAGCTGTG 0.662000 SLC1A6 6511 broad.mit.edu 37 19 15063786 15063786 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:15063786A>T uc002naa.1 - 8 1461 c.1453T>A c.(1453-1455)TTG>ATG p.L485M SLC1A6_uc010dzu.1_Missense_Mutation_p.L407M|SLC1A6_uc010xod.1_Missense_Mutation_p.L421M NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 485 Helical; (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) TCCGTGGGCAAGCCGACCGAC 0.577000 NOTCH3 4854 broad.mit.edu 37 19 15289981 15289981 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:15289981G>A uc002nan.2 - 22 3649 c.3573C>T c.(3571-3573)TGC>TGT p.C1191C NOTCH3_uc002nao.1_Silent_p.C1139C NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1191 Extracellular (Potential).|EGF-like 30; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGGGACAGGTGCAGCGGAAAC 0.642000 SF4 57794 broad.mit.edu 37 19 19413155 19413155 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:19413155T>C uc002nmh.2 - 7 808 c.806A>G c.(805-807)AAG>AGG p.K269R SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.K59R|SF4_uc002nmj.2_Missense_Mutation_p.K59R|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 269 SURP motif 2. nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 CCTGGCCAACTTTTCTGCAAG 0.557000 ZNF493 284443 broad.mit.edu 37 19 21606405 21606405 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:21606405A>G uc002npx.2 + 2 840 c.560A>G c.(559-561)CAT>CGT p.H187R ZNF493_uc002npw.2_Missense_Mutation_p.H315R|ZNF493_uc002npy.2_Missense_Mutation_p.H187R NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 187 C2H2-type 6; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGATAATTCATAATGGAGAA 0.333000 ZNF43 7594 broad.mit.edu 37 19 21992435 21992435 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:21992435T>C uc002nqj.2 - 4 534 c.404A>G c.(403-405)AAC>AGC p.N135S ZNF43_uc010ecv.2_Missense_Mutation_p.N129S|ZNF43_uc002nql.2_Missense_Mutation_p.N129S|ZNF43_uc002nqm.2_Missense_Mutation_p.N129S|ZNF43_uc002nqk.2_Missense_Mutation_p.N65S NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAAACATTGGTTAAATCCATT 0.308000 ZNF257 113835 broad.mit.edu 37 19 22270892 22270892 + Silent SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:22270892A>C uc010ecx.2 + 4 509 c.340A>C c.(340-342)AGA>CGA p.R114R ZNF257_uc010ecy.2_Silent_p.R82R NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTACAATTAAGAAAGGGCTG 0.358000 ZNF681 148213 broad.mit.edu 37 19 23927705 23927705 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:23927705T>G uc002nrk.3 - 4 789 c.647A>C c.(646-648)CAT>CCT p.H216P ZNF681_uc002nrl.3_Missense_Mutation_p.H147P|ZNF681_uc002nrj.3_Missense_Mutation_p.H147P NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 216 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AATTCTTTTATGTTTAGTAAA 0.308000 ZNF536 9745 broad.mit.edu 37 19 31040340 31040340 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:31040340A>G uc002nsu.1 + 4 3952 c.3814A>G c.(3814-3816)AGT>GGT p.S1272G ZNF536_uc010edd.1_Missense_Mutation_p.S1272G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CAGGGCCTACAGTTCTGATGG 0.557000 ZNF569 148266 broad.mit.edu 37 19 37904498 37904499 + Missense_Mutation DNP AT AT TA TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:37904498_37904499AT>TA uc002ogi.2 - 6 1619_1620 c.1061_1062AT>TA c.(1060-1062)TAT>TTA p.Y354L ZNF569_uc002ogh.2_Missense_Mutation_p.Y195L|ZNF569_uc002ogj.2_Missense_Mutation_p.Y378L NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 354 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATCACATTTATAAGGTTTTTC 0.371000 RYR1 6261 broad.mit.edu 37 19 38945944 38945944 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:38945944G>A uc002oit.2 + 14 1640 c.1510G>A c.(1510-1512)GAG>AAG p.E504K RYR1_uc002oiu.2_Missense_Mutation_p.E504K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 504 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCACTTTGCTGAGTTTGCAGG 0.512000 ZNF418 147686 broad.mit.edu 37 19 58437814 58437814 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:58437814G>T uc002qqs.1 - 4 2027 c.1735C>A c.(1735-1737)CTT>ATT p.L579I ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.L494I NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CTGTGTTCAAGGAGACTGGAG 0.438000 ZNF329 79673 broad.mit.edu 37 19 58640356 58640356 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr19:58640356T>G uc002qrn.2 - 4 752 c.515A>C c.(514-516)AAG>ACG p.K172T ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ATACGATTTCTTGCCTCTTTT 0.358000 TTC15 51112 broad.mit.edu 37 2 3391965 3391965 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:3391965G>A uc002qxm.1 + 2 777 c.571G>A c.(571-573)GCC>ACC p.A191T TTC15_uc002qxn.1_Missense_Mutation_p.A191T|TTC15_uc010ewm.1_Missense_Mutation_p.A191T|TTC15_uc002qxl.1_Missense_Mutation_p.A191T NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 191 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CGCCAGCGAGGCCTCGGCCAG 0.706000 IFT172 26160 broad.mit.edu 37 2 27683894 27683894 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:27683894C>T uc002rku.2 - 23 2560 c.2509G>A c.(2509-2511)GCA>ACA p.A837T NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 837 TPR 3. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TTCATGAATGCGTTGCCTTTA 0.428000 HNRPLL 92906 broad.mit.edu 37 2 38804623 38804623 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:38804623G>A uc002rqw.2 - 7 1264 c.854C>T c.(853-855)TCG>TTG p.S285L HNRPLL_uc002rqv.2_5'UTR|HNRPLL_uc002rqx.2_Missense_Mutation_p.S280L NM_138394 NP_612403 Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like 285 mRNA processing|positive regulation of RNA splicing nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding skin(1) 1 all_hematologic(82;0.248) ATGTCTAAACGAAGAAGGGTG 0.398000 FSHR 2492 broad.mit.edu 37 2 49217713 49217713 + Missense_Mutation SNP T T G rs1126715 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:49217713T>G uc002rww.2 - 5 512 c.438A>C c.(436-438)AAA>AAC p.K146N FSHR_uc002rwx.2_Missense_Mutation_p.K146N|FSHR_uc010fbn.2_Missense_Mutation_p.K146N|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 146 LRR 5.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACAGTAAAACTTTTTGGAGAG 0.373000 Gonadal_Dysgenesis_46_XX C2orf78 388960 broad.mit.edu 37 2 74042217 74042217 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:74042217G>T uc002sjr.1 + 3 988 c.867G>T c.(865-867)GGG>GGT p.G289G NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 289 ovary(2) 2 CTTCCCTGGGGATGGATACTT 0.483000 RANBP2 5903 broad.mit.edu 37 2 109367808 109367808 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:109367808A>G uc002tem.3 + 10 1488 c.1362A>G c.(1360-1362)CGA>CGG p.R454R NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 454 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CTGGAATCCGAAAATGGCTAA 0.393000 GTDC1 79712 broad.mit.edu 37 2 144728242 144728242 + Silent SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:144728242T>A uc002tvp.2 - 8 1242 c.963A>T c.(961-963)GGA>GGT p.G321G GTDC1_uc002tvo.2_Silent_p.G321G|GTDC1_uc002tvq.2_Silent_p.G203G|GTDC1_uc002tvr.2_Intron|GTDC1_uc010fnn.2_Silent_p.G321G|GTDC1_uc002tvs.2_Silent_p.G289G|GTDC1_uc010fno.2_Silent_p.G192G NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 321 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) TGAAGGTTTCTCCAAGTACAG 0.343000 ZEB2 9839 broad.mit.edu 37 2 145156551 145156551 + Missense_Mutation SNP G G A rs144154908 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:145156551G>A uc002tvu.2 - 8 2683 c.2203C>T c.(2203-2205)CCT>TCT p.P735S ZEB2_uc002tvv.2_Missense_Mutation_p.P729S|ZEB2_uc010zbm.1_Missense_Mutation_p.P706S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P764S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 735 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGTCCATAGGTTTTACAGGA 0.453000 NEB 4703 broad.mit.edu 37 2 152397971 152397971 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:152397971A>C uc010fnx.2 - 108 15760 c.15569T>G c.(15568-15570)CTT>CGT p.L5190R NEB_uc002txr.2_Missense_Mutation_p.L1613R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5190 Nebulin 141. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGACTCTGAAGCTTCTGCCC 0.512000 XIRP2 129446 broad.mit.edu 37 2 167992437 167992437 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:167992437A>C uc002udx.2 + 2 445 c.427A>C c.(427-429)AGT>CGT p.S143R XIRP2_uc010fpn.2_Missense_Mutation_p.S143R|XIRP2_uc010fpo.2_Missense_Mutation_p.S143R|XIRP2_uc010fpp.2_Missense_Mutation_p.S143R|XIRP2_uc002udy.2_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATTGAGCGAAGTTTGTGCTC 0.423000 XIRP2 129446 broad.mit.edu 37 2 168101561 168101561 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:168101561T>C uc002udx.2 + 8 3677 c.3659T>C c.(3658-3660)TTG>TCG p.L1220S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1045S|XIRP2_uc010fpq.2_Missense_Mutation_p.L998S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1045 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAGGAAGTTTTGAAAAAGATC 0.313000 NOSTRIN 115677 broad.mit.edu 37 2 169707670 169707670 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:169707670T>C uc002ueg.2 + 9 711 c.707T>C c.(706-708)CTT>CCT p.L236P NOSTRIN_uc002uef.2_Missense_Mutation_p.L293P|NOSTRIN_uc002uei.2_Missense_Mutation_p.L119P|NOSTRIN_uc010fpu.2_Missense_Mutation_p.L208P|NOSTRIN_uc002ueh.2_Missense_Mutation_p.L158P|NOSTRIN_uc002uej.2_Missense_Mutation_p.L119P NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 236 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 CATATTTCTCTTTTTGGCCAA 0.408000 ZNF804A 91752 broad.mit.edu 37 2 185803164 185803164 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:185803164G>A uc002uph.2 + 4 3635 c.3041G>A c.(3040-3042)GGT>GAT p.G1014D NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1014 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CATGTCAGTGGTCATACTTTT 0.398000 PLCL1 5334 broad.mit.edu 37 2 198949309 198949309 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:198949309C>T uc010fsp.2 + 2 1359 c.1068C>T c.(1066-1068)ATC>ATT p.I356I PLCL1_uc002uuv.3_Silent_p.I277I NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 356 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GCTTAGACATCATAAGGAGAT 0.373000 PLCL1 5334 broad.mit.edu 37 2 198949329 198949329 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:198949329C>G uc010fsp.2 + 2 1379 c.1088C>G c.(1087-1089)TCT>TGT p.S363C PLCL1_uc002uuv.3_Missense_Mutation_p.S284C NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 363 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TACGAACTTTCTGAAGAGGGA 0.398000 MAP2 4133 broad.mit.edu 37 2 210557512 210557512 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:210557512T>G uc002vde.1 + 7 866 c.618T>G c.(616-618)ACT>ACG p.T206T MAP2_uc002vdc.1_Silent_p.T206T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T202T NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 206 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAACTAAAACTTACCCTGATA 0.458000 ABCA12 26154 broad.mit.edu 37 2 215891609 215891609 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:215891609C>A uc002vew.2 - 10 1335 c.1115G>T c.(1114-1116)AGT>ATT p.S372I ABCA12_uc002vev.2_Missense_Mutation_p.S54I|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 372 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AATATAAGGACTATTTGCTGA 0.348000 RHBDD1 84236 broad.mit.edu 37 2 227729651 227729651 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:227729651T>C uc002voi.2 + 2 363 c.242T>C c.(241-243)TTG>TCG p.L81S RHBDD1_uc010fxc.2_Missense_Mutation_p.L81S NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 81 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) GATTGGCATTTGTATTTCAAT 0.433000 SPHKAP 80309 broad.mit.edu 37 2 228882341 228882341 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr2:228882341G>A uc002vpq.2 - 7 3276 c.3229C>T c.(3229-3231)CGG>TGG p.R1077W SPHKAP_uc002vpp.2_Missense_Mutation_p.R1077W|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1077W NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1077 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCCTTCAGCCGGCTCCACCTG 0.597000 NINL 22981 broad.mit.edu 37 20 25484648 25484648 + Silent SNP G G A rs146594321 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:25484648G>A uc002wux.1 - 7 875 c.801C>T c.(799-801)CCC>CCT p.P267P NINL_uc010gdn.1_Silent_p.P267P|NINL_uc010gdo.1_Silent_p.P107P|NINL_uc010ztf.1_Silent_p.P283P NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 267 EF-hand 4. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GAAGTAGCGCGGGCTCATGAC 0.478000 MYH7B 57644 broad.mit.edu 37 20 33578612 33578612 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:33578612C>T uc002xbi.1 + 21 2267 c.2175C>T c.(2173-2175)AAC>AAT p.N725N NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 683 Myosin head-like.|Actin-binding (By similarity). membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TTGTCCCCAACGAGAACAAAA 0.622000 PHF20 51230 broad.mit.edu 37 20 34459741 34459741 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:34459741G>A uc002xek.1 + 9 1383 c.1272G>A c.(1270-1272)TCG>TCA p.S424S PHF20_uc002xei.1_Silent_p.S424S|PHF20_uc010gfo.1_Silent_p.S424S|PHF20_uc002xej.1_Silent_p.S308S NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) AAGAGATTTCGACTGTGGAAG 0.378000 SDC4 6385 broad.mit.edu 37 20 43955966 43955966 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:43955966T>C uc002xnu.2 - 5 575 c.535A>G c.(535-537)AGC>GGC p.S179G SDC4_uc010zws.1_Missense_Mutation_p.S107G NM_002999 NP_002990 P31431 SDC4_HUMAN syndecan 4 precursor 179 Cytoplasmic (Potential). extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity 0 Myeloproliferative disorder(115;0.0122) AGGTCATAGCTGCCTTCATCC 0.532000 ZNF831 128611 broad.mit.edu 37 20 57767362 57767362 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:57767362C>T uc002yan.2 + 1 1288 c.1288C>T c.(1288-1290)CGG>TGG p.R430W NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 430 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CGTGCGGCCCCGGAAGACCGG 0.657000 MYT1 4661 broad.mit.edu 37 20 62837128 62837128 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr20:62837128G>C uc002yii.2 + 6 736 c.372G>C c.(370-372)GAG>GAC p.E124D MYT1_uc002yih.2_Missense_Mutation_p.E124D|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 124 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GACAGGACGAGATTCATCGCC 0.592000 ADAMTS1 9510 broad.mit.edu 37 21 28211920 28211920 + Missense_Mutation SNP C C G rs147119544 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:28211920C>G uc002ymf.2 - 7 2469 c.2014G>C c.(2014-2016)GTT>CTT p.V672L NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 672 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GGCTGCAAAACGAAGAAGTAG 0.458000 KRTAP27-1 643812 broad.mit.edu 37 21 31709567 31709567 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:31709567A>G uc002ynx.1 - 1 446 c.420T>C c.(418-420)AGT>AGC p.S140S NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 140 intermediate filament ovary(2) 2 TGGGTGGGCAACTGTTTCCCT 0.493000 ITGB2 3689 broad.mit.edu 37 21 46326905 46326905 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:46326905C>T uc002zgd.2 - 3 297 c.253G>A c.(253-255)GCT>ACT p.A85T ITGB2_uc002zge.2_Missense_Mutation_p.A85T|ITGB2_uc002zgf.3_Missense_Mutation_p.A85T|ITGB2_uc011afl.1_Missense_Mutation_p.A7T|ITGB2_uc010gpw.2_Missense_Mutation_p.A85T|ITGB2_uc002zgg.2_Missense_Mutation_p.A85T NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 85 Extracellular (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) TGGGTTTCAGCGAGGCTTGTG 0.627000 ADARB1 104 broad.mit.edu 37 21 46603400 46603400 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:46603400C>T uc002zgy.2 + 7 1806 c.1371C>T c.(1369-1371)TTC>TTT p.F457F ADARB1_uc002zgr.2_Silent_p.F457F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.F457F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.F457F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 457 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CCAGAATCTTCTCACCACATG 0.433000 COL6A2 1292 broad.mit.edu 37 21 47532203 47532203 + Silent SNP G G A rs149480738 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:47532203G>A uc002zia.1 + 3 508 c.426G>A c.(424-426)ACG>ACA p.T142T COL6A2_uc002zhy.1_Silent_p.T142T|COL6A2_uc002zhz.1_Silent_p.T142T|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 142 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCAACATGACGGAGCAGATCC 0.692000 LZTR1 8216 broad.mit.edu 37 22 21347143 21347143 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr22:21347143G>A uc002zto.2 + 11 1313 c.1210G>A c.(1210-1212)GGG>AGG p.G404R LZTR1_uc002ztn.2_Missense_Mutation_p.G363R|LZTR1_uc011ahy.1_Missense_Mutation_p.G385R|LZTR1_uc010gsr.1_Missense_Mutation_p.G275R NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 404 Kelch 6. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTACATCTTCGGGGGCACGGT 0.652000 MGAT3 4248 broad.mit.edu 37 22 39883517 39883517 + Silent SNP G G A rs143400156 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr22:39883517G>A uc003axv.3 + 2 404 c.165G>A c.(163-165)CCG>CCA p.P55P MGAT3_uc010gxy.2_Silent_p.P55P NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 55 Lumenal (Potential).|Pro-rich. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) ACAATGCCCCGGTCACGCCCC 0.647000 CACNA1I 8911 broad.mit.edu 37 22 40036887 40036887 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr22:40036887C>T uc003ayc.2 + 6 756 c.756C>T c.(754-756)GCC>GCT p.A252A CACNA1I_uc003ayd.2_Silent_p.A252A|CACNA1I_uc003aye.2_Silent_p.A167A|CACNA1I_uc003ayf.2_Silent_p.A167A NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 252 I.|Extracellular (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGGATGTGGCCTTGCCCCCAT 0.597000 LRRN1 57633 broad.mit.edu 37 3 3887829 3887829 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:3887829C>G uc003bpt.3 + 2 2265 c.1504C>G c.(1504-1506)CAG>GAG p.Q502E SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 502 Ig-like C2-type.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATGTGTTGCCCAGAATGTCCA 0.433000 ENTPD3 956 broad.mit.edu 37 3 40429568 40429568 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:40429568G>A uc003ckd.3 + 2 112 c.20G>A c.(19-21)CGC>CAC p.R7H ENTPD3_uc010hhy.2_Missense_Mutation_p.R7H NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 Cytoplasmic (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GTGCTGACCCGCCAACCATGT 0.512000 MYL3 4634 broad.mit.edu 37 3 46899746 46899746 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:46899746G>T uc003cql.1 - 6 669 c.576C>A c.(574-576)ATC>ATA p.I192I NM_000258 NP_000249 P08590 MYL3_HUMAN slow skeletal ventricular myosin alkali light 192 EF-hand 3. 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 0 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) AGCTGGACATGATGTGCTTCA 0.597000 ERC2 26059 broad.mit.edu 37 3 56026192 56026192 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:56026192G>A uc003dhr.1 - 11 2404 c.2148C>T c.(2146-2148)CGC>CGT p.R716R ERC2_uc003dht.1_Silent_p.R199R NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 716 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CACACTCGTCGCGGTAGTAAG 0.478000 GPR27 2850 broad.mit.edu 37 3 71803291 71803291 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:71803291G>A uc011bge.1 + 1 91 c.91G>A c.(91-93)GTG>ATG p.V31M EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 31 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GCTGCTGTGCGTGAGCCTAGC 0.731000 CNTN3 5067 broad.mit.edu 37 3 74349045 74349045 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:74349045G>A uc003dpm.1 - 16 2220 c.2140C>T c.(2140-2142)CGG>TGG p.R714W NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 714 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AGTTCAGACCGGCTTCCGCCT 0.438000 STX19 415117 broad.mit.edu 37 3 93733918 93733918 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:93733918C>A uc003drh.1 - 2 453 c.196G>T c.(196-198)GAT>TAT p.D66Y ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 66 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 TGAACATTATCTGCCAAATTG 0.373000 EPHA6 285220 broad.mit.edu 37 3 97124019 97124019 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:97124019G>T uc010how.1 + 6 1675 c.1632G>T c.(1630-1632)AGG>AGT p.R544S NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 449 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GTGTGGTAAGGAAGGACTGGG 0.398000 OR5H1 26341 broad.mit.edu 37 3 97852410 97852410 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:97852410A>G uc011bgt.1 + 1 869 c.869A>G c.(868-870)TAC>TGC p.Y290C NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 CCTATCATCTACAGTCTGAGA 0.343000 ST3GAL6 10402 broad.mit.edu 37 3 98507289 98507289 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:98507289A>C uc003dsz.2 + 8 974 c.738A>C c.(736-738)AAA>AAC p.K246N ST3GAL6_uc003dsy.2_Missense_Mutation_p.K160N|ST3GAL6_uc003dta.2_Missense_Mutation_p.K128N|ST3GAL6_uc003dtb.2_Missense_Mutation_p.K102N|ST3GAL6_uc003dtc.2_Missense_Mutation_p.K246N|ST3GAL6_uc010hpd.2_Missense_Mutation_p.K299N NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 246 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 ATTTTCCAAAAGTGTTTCCCA 0.378000 LSAMP 4045 broad.mit.edu 37 3 115571349 115571349 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:115571349T>C uc003ebt.2 - 4 1130 c.630A>G c.(628-630)CAA>CAG p.Q210Q LSAMP_uc011bis.1_Silent_p.Q210Q NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 210 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TGACCTTGACTTGTTTGACAT 0.527000 MYLK 4638 broad.mit.edu 37 3 123419605 123419605 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:123419605T>G uc003ego.2 - 18 2992 c.2710A>C c.(2710-2712)AAG>CAG p.K904Q MYLK_uc011bjw.1_Missense_Mutation_p.K904Q|MYLK_uc003egp.2_Missense_Mutation_p.K835Q|MYLK_uc003egq.2_Missense_Mutation_p.K904Q|MYLK_uc003egr.2_Missense_Mutation_p.K835Q|MYLK_uc003egs.2_Missense_Mutation_p.K728Q|MYLK_uc003egt.2_Missense_Mutation_p.K95Q NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 904 1-2.|5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTACTCACCTTCTTCCCCAGG 0.602000 ATR 545 broad.mit.edu 37 3 142234270 142234270 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:142234270C>A uc003eux.3 - 25 4592 c.4470G>T c.(4468-4470)TGG>TGT p.W1490C NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1490 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AAGATGCTGACCATTCTGCAA 0.358000 Other_conserved_DNA_damage_response_genes TRIM59 286827 broad.mit.edu 37 3 160156416 160156416 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:160156416G>C uc003fdm.2 - 3 751 c.556C>G c.(556-558)CTC>GTC p.L186V IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 186 Potential. integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAATACTGGAGAACAGCTTCC 0.353000 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) HTR3D 200909 broad.mit.edu 37 3 183756164 183756164 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:183756164C>T uc011bqv.1 + 7 887 c.887C>T c.(886-888)CCT>CTT p.P296L HTR3D_uc003fmj.2_Intron|HTR3D_uc011bqu.1_Intron|HTR3D_uc010hxp.2_Intron NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 296 Extracellular (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAGGTGGCGCCTCTGGCCCTC 0.567000 LMLN 89782 broad.mit.edu 37 3 197710878 197710878 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr3:197710878G>C uc011buo.1 + 7 815 c.793G>C c.(793-795)GGG>CGG p.G265R LMLN_uc003fyt.2_Missense_Mutation_p.G213R|LMLN_uc010iar.2_Missense_Mutation_p.G265R|LMLN_uc010ias.2_Missense_Mutation_p.G213R|LMLN_uc003fyu.2_Missense_Mutation_p.G25R NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 265 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GGAGTTTGTTGGGATGCTGTC 0.398000 JAKMIP1 152789 broad.mit.edu 37 4 6086631 6086631 + Nonsense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:6086631G>T uc003giu.3 - 5 1172 c.896C>A c.(895-897)TCA>TAA p.S299* JAKMIP1_uc010idb.1_Nonsense_Mutation_p.S299*|JAKMIP1_uc010idc.1_Nonsense_Mutation_p.S134*|JAKMIP1_uc010idd.1_Nonsense_Mutation_p.S299*|JAKMIP1_uc011bwc.1_Nonsense_Mutation_p.S134*|JAKMIP1_uc003giv.3_Nonsense_Mutation_p.S299*|JAKMIP1_uc010ide.2_Nonsense_Mutation_p.S299* NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 299 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CCGTATCACTGAATTCAGTTC 0.408000 SLC2A9 56606 broad.mit.edu 37 4 10023015 10023015 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:10023015G>A uc003gmc.2 - 1 100 c.39C>T c.(37-39)GGC>GGT p.G13G SLC2A9_uc003gmd.2_Intron NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 13 Cytoplasmic (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 GGGGAACTAGGCCCAGTTCCT 0.602000 YIPF7 285525 broad.mit.edu 37 4 44624465 44624465 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:44624465A>T uc010ifx.1 - 6 826 c.809T>A c.(808-810)CTT>CAT p.L270H NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 270 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 AAGTCCATAAAGTATGGCACA 0.408000 SCFD2 152579 broad.mit.edu 37 4 54232054 54232054 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:54232054C>T uc003gzu.2 - 1 189 c.55G>A c.(55-57)GCC>ACC p.A19T SCFD2_uc010igm.2_Missense_Mutation_p.A19T NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 19 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TTCACTTTGGCCAGCACCTGC 0.632000 TRAM1L1 133022 broad.mit.edu 37 4 118006001 118006001 + Silent SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:118006001G>C uc003ibv.3 - 1 736 c.549C>G c.(547-549)CTC>CTG p.L183L NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 183 Helical; (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 TCTGGAAGTAGAGTTCAGGAA 0.403000 FAT4 79633 broad.mit.edu 37 4 126239277 126239277 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:126239277A>C uc003ifj.3 + 1 1711 c.1711A>C c.(1711-1713)ACT>CCT p.T571P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 571 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCTTGTAGTAACTCTCCTAGA 0.502000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAT4 79633 broad.mit.edu 37 4 126372259 126372259 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:126372259G>A uc003ifj.3 + 9 10088 c.10088G>A c.(10087-10089)CGA>CAA p.R3363Q FAT4_uc011cgp.1_Missense_Mutation_p.R1661Q|FAT4_uc003ifi.1_Missense_Mutation_p.R841Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3363 Cadherin 32.|Extracellular (Potential). RE -> QK (in Ref. 3; BAE45762). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTCTTGATCGAGAAAAAGAA 0.398000 FAT4 79633 broad.mit.edu 37 4 126372585 126372585 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:126372585A>C uc003ifj.3 + 9 10414 c.10414A>C c.(10414-10416)ACC>CCC p.T3472P FAT4_uc011cgp.1_Missense_Mutation_p.T1770P|FAT4_uc003ifi.1_Missense_Mutation_p.T950P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3472 Cadherin 33.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGATCGAGAAACCCTTCCCAT 0.433000 FAT4 79633 broad.mit.edu 37 4 126411255 126411255 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:126411255T>C uc003ifj.3 + 17 13278 c.13278T>C c.(13276-13278)CCT>CCC p.P4426P FAT4_uc011cgp.1_Silent_p.P2667P|FAT4_uc003ifi.1_Silent_p.P1903P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4426 EGF-like 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGTGTGTCCCTCCTGGGGACT 0.602000 NR3C2 4306 broad.mit.edu 37 4 149181165 149181165 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:149181165C>T uc003ilj.3 - 3 2196 c.1862G>A c.(1861-1863)GGC>GAC p.G621D NR3C2_uc003ilk.3_Missense_Mutation_p.G621D|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 621 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TTTGCAGCTGCCACAGGTGAC 0.408000 RXFP1 59350 broad.mit.edu 37 4 159568065 159568065 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:159568065T>G uc003ipz.2 + 16 1550 c.1468T>G c.(1468-1470)TCT>GCT p.S490A RXFP1_uc011cja.1_Missense_Mutation_p.S385A|RXFP1_uc010iqo.2_Missense_Mutation_p.S442A|RXFP1_uc011cjb.1_Missense_Mutation_p.S388A|RXFP1_uc010iqk.2_Missense_Mutation_p.S358A|RXFP1_uc011cjc.1_Missense_Mutation_p.S409A|RXFP1_uc011cjd.1_Missense_Mutation_p.S409A|RXFP1_uc010iql.2_Missense_Mutation_p.S334A|RXFP1_uc011cje.1_Missense_Mutation_p.S517A|RXFP1_uc010iqm.2_Missense_Mutation_p.S457A|RXFP1_uc011cjf.1_Missense_Mutation_p.S359A|RXFP1_uc010iqn.2_Missense_Mutation_p.S435A NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 490 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GCTTGTAGGATCTTTGGCCAT 0.398000 ADAM29 11086 broad.mit.edu 37 4 175896943 175896943 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr4:175896943C>T uc003iuc.2 + 5 937 c.267C>T c.(265-267)ATC>ATT p.I89I ADAM29_uc003iud.2_Silent_p.I89I|ADAM29_uc010irr.2_Silent_p.I89I|ADAM29_uc011cki.1_Silent_p.I89I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 89 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGGGTGCTATCCTTGAGGACC 0.478000 ADCY2 108 broad.mit.edu 37 5 7707861 7707861 + Silent SNP C C T rs112493968 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:7707861C>T uc003jdz.1 + 9 1378 c.1311C>T c.(1309-1311)GGC>GGT p.G437G ADCY2_uc011cmo.1_Silent_p.G257G NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 437 Cytoplasmic (Potential). 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 ovary(5)|pancreas(1)|skin(1) 7 ACTTGAATGGCGCTTATAAAG 0.413000 CTNND2 1501 broad.mit.edu 37 5 11236905 11236905 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:11236905C>T uc003jfa.1 - 10 1804 c.1659G>A c.(1657-1659)CCG>CCA p.P553P CTNND2_uc010itt.2_Silent_p.P462P|CTNND2_uc011cmy.1_Silent_p.P216P|CTNND2_uc011cmz.1_Silent_p.P120P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P120P NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 553 ARM 2. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GAATCACTTCCGGCAGTTCCG 0.478000 GHR 2690 broad.mit.edu 37 5 42719406 42719406 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:42719406T>C uc003jmt.2 + 10 1840 c.1797T>C c.(1795-1797)CAT>CAC p.H599H GHR_uc011cpq.1_Silent_p.H412H NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 599 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCTCCATTCATATAGTACAGT 0.517000 FAM169A 26049 broad.mit.edu 37 5 74135907 74135907 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:74135907G>A uc003kdm.2 - 3 267 c.224C>T c.(223-225)TCA>TTA p.S75L FAM169A_uc010izm.2_Missense_Mutation_p.S75L|FAM169A_uc003kdl.2_5'UTR NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 75 0 ACCTGTCAGTGAATCTTCAGG 0.338000 BHMT 635 broad.mit.edu 37 5 78417157 78417157 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:78417157C>T uc003kfu.3 + 5 699 c.594C>T c.(592-594)CCC>CCT p.P198P BHMT_uc011cti.1_Intron NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 198 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) GCGTGCCCCCCGGCGAGTGTG 0.488000 CMYA5 202333 broad.mit.edu 37 5 79026957 79026957 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:79026957G>A uc003kgc.2 + 2 2441 c.2369G>A c.(2368-2370)CGT>CAT p.R790H NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 790 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 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) GGAAGTGAACGTTTCACACCG 0.453000 CMYA5 202333 broad.mit.edu 37 5 79031339 79031339 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:79031339G>A uc003kgc.2 + 2 6823 c.6751G>A c.(6751-6753)GGT>AGT p.G2251S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2251 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 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) TGAACCCAGAGGTACTTTAGT 0.348000 CHD1 1105 broad.mit.edu 37 5 98262168 98262168 + Translation_Start_Site SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:98262168T>A uc003knf.2 - 1 71 c.-77A>T c.(-79--75)CAAGG>CATGG NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TACTGACTCCTTGAATATAAA 0.259000 EPB41L4A 64097 broad.mit.edu 37 5 111500702 111500702 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:111500702G>A uc003kpv.1 - 23 2320 c.2046C>T c.(2044-2046)CTC>CTT p.L682L EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 682 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TCTCTGTCTTGAGGCGGGAAG 0.428000 APC 324 broad.mit.edu 37 5 112174378 112174378 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:112174378T>G uc010jby.2 + 16 3467 c.3087T>G c.(3085-3087)CTT>CTG p.L1029L APC_uc011cvt.1_Silent_p.L1011L|APC_uc003kpz.3_Silent_p.L1029L|APC_uc003kpy.3_Silent_p.L1029L|APC_uc010jbz.2_Silent_p.L746L|APC_uc010jca.2_Silent_p.L329L NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1029 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATTATAGTCTTAAATATTCAG 0.358000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) SRP19 6728 broad.mit.edu 37 5 112197085 112197085 + Silent SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:112197085T>A uc003kqc.2 + 1 93 c.12T>A c.(10-12)GCT>GCA p.A4A SRP19_uc003kqb.1_Silent_p.A4A|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR NM_003135 NP_003126 P09132 SRP19_HUMAN signal recognition particle 19kDa 4 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TGGCTTGCGCTGCCGCGCGGT 0.532000 FBXL21 26223 broad.mit.edu 37 5 135276812 135276812 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:135276812G>A uc010jec.1 + 5 778 c.757G>A c.(757-759)GAG>AAG p.E253K FBXL21_uc003lbc.2_RNA NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 253 LRR 4. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTCAAGCGAGACTCATGT 0.398000 PCDHA3 56145 broad.mit.edu 37 5 140182291 140182291 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:140182291G>A uc003lhf.2 + 1 1509 c.1509G>A c.(1507-1509)GCG>GCA p.A503A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A503A NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 503 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCGCGCGCTGTCGAGCT 0.682000 PCDHA10 56139 broad.mit.edu 37 5 140236909 140236909 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:140236909G>A uc003lhx.2 + 1 1276 c.1276G>A c.(1276-1278)GCG>ACG p.A426T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A426T|PCDHA10_uc011dad.1_Missense_Mutation_p.A426T NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 426 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGTGACCGCGCGGGACGG 0.647000 PCDHA10 56139 broad.mit.edu 37 5 140237036 140237036 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:140237036C>T uc003lhx.2 + 1 1403 c.1403C>T c.(1402-1404)CCG>CTG p.P468L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.P468L|PCDHA10_uc011dad.1_Missense_Mutation_p.P468L NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 468 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACAACCCGCCAGGCTGC 0.667000 PCDHB13 56123 broad.mit.edu 37 5 140594941 140594941 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:140594941G>C uc003lja.1 + 1 1433 c.1246G>C c.(1246-1248)GAA>CAA p.E416Q NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 416 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCAGAGCGGAATACAACAT 0.488000 PCDHGA4 56111 broad.mit.edu 37 5 140734966 140734966 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:140734966G>A uc003ljq.1 + 1 199 c.199G>A c.(199-201)GTC>ATC p.V67I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V67I NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCCGCATCGTCTCCAGAGG 0.652000 GALNT10 55568 broad.mit.edu 37 5 153795429 153795429 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:153795429C>T uc003lvh.2 + 11 1722 c.1590C>T c.(1588-1590)ACC>ACT p.T530T GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.T371T|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.T201T NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 530 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TTTCCCACACCAGCCCTGTCA 0.577000 SLC22A23 63027 broad.mit.edu 37 6 3273341 3273341 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:3273341G>A uc003mvm.3 - 10 2009 c.2009C>T c.(2008-2010)GCG>GTG p.A670V uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.A389V|SLC22A23_uc003mvo.3_Missense_Mutation_p.A389V|SLC22A23_uc003mvp.1_RNA NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 670 ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) TGTGTCACCCGCGGCTGCGGC 0.701000 JARID2 3720 broad.mit.edu 37 6 15497183 15497183 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:15497183C>T uc003nbj.2 + 7 1971 c.1727C>T c.(1726-1728)TCG>TTG p.S576L JARID2_uc011diu.1_Missense_Mutation_p.S440L|JARID2_uc011div.1_Missense_Mutation_p.S404L|JARID2_uc011diw.1_Missense_Mutation_p.S538L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 576 JmjN. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TACATCGAGTCGGTCCGCGCT 0.657000 HIST1H1E 3008 broad.mit.edu 37 6 26156642 26156642 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:26156642G>T uc003ngq.2 + 1 84 c.24G>T c.(22-24)GCG>GCT p.A8A HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 8 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 CGCCTGCCGCGCCCGCTGCTC 0.692000 ABCC10 89845 broad.mit.edu 37 6 43400000 43400000 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:43400000C>T uc003ouy.1 + 3 497 c.282C>T c.(280-282)GGC>GGT p.G94G ABCC10_uc003ouz.1_Silent_p.G51G NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 94 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGGGGCAGGCCCAGGACCCA 0.627000 BAI3 577 broad.mit.edu 37 6 69653817 69653817 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:69653817C>G uc003pev.3 + 6 1574 c.1126C>G c.(1126-1128)CAG>GAG p.Q376E BAI3_uc010kak.2_Missense_Mutation_p.Q376E NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 376 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CACACCTCCTCAGTATGGAGG 0.458000 BAI3 577 broad.mit.edu 37 6 69666609 69666609 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:69666609G>A uc003pev.3 + 8 1881 c.1433G>A c.(1432-1434)CGA>CAA p.R478Q BAI3_uc010kak.2_Missense_Mutation_p.R478Q NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 478 TSP type-1 4.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGGAAAGGCGAATAAGGACC 0.502000 MDN1 23195 broad.mit.edu 37 6 90371258 90371258 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:90371258T>C uc003pnn.1 - 88 14721 c.14605A>G c.(14605-14607)AAT>GAT p.N4869D NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4869 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTCCTGATTGCCATGGTAA 0.418000 MDN1 23195 broad.mit.edu 37 6 90457135 90457135 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:90457135G>A uc003pnn.1 - 27 3933 c.3817C>T c.(3817-3819)CGT>TGT p.R1273C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1273 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AACAGATCACGAAGGGTGATG 0.463000 GRIK2 2898 broad.mit.edu 37 6 102069961 102069961 + Missense_Mutation SNP C C A rs143873289 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:102069961C>A uc003pqp.3 + 2 502 c.253C>A c.(253-255)CTT>ATT p.L85I GRIK2_uc003pqn.2_Missense_Mutation_p.L85I|GRIK2_uc003pqo.3_Missense_Mutation_p.L85I|GRIK2_uc010kcw.2_Missense_Mutation_p.L85I NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 85 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GAAGATAAACCTTTATGATAG 0.328000 TRDN 10345 broad.mit.edu 37 6 123786070 123786070 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:123786070C>T uc003pzj.1 - 10 934 c.912G>A c.(910-912)CCG>CCA p.P304P TRDN_uc003pzk.1_Silent_p.P304P|TRDN_uc003pzl.1_Silent_p.P304P|TRDN_uc010ken.2_Silent_p.P284P|uc003pzm.1_Intron NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 304 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CAGGTGATGCCGGAGTGGGTC 0.393000 VNN2 8875 broad.mit.edu 37 6 133072431 133072431 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:133072431A>G uc003qdt.2 - 5 1064 c.1053T>C c.(1051-1053)CTT>CTC p.L351L VNN2_uc003qds.2_Silent_p.L60L|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.L298L NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 351 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CATTTTCAAAAAGTTCTGTGA 0.383000 HIVEP2 3097 broad.mit.edu 37 6 143095201 143095201 + Silent SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:143095201A>C uc003qjd.2 - 5 1418 c.675T>G c.(673-675)TCT>TCG p.S225S NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 225 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTGTCTTGAAAGAGAAACCAC 0.448000 MLLT4 4301 broad.mit.edu 37 6 168351867 168351867 + Missense_Mutation SNP G G A rs151265223 byFrequency TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr6:168351867G>A uc003qwd.2 + 29 3951 c.3809G>A c.(3808-3810)CGT>CAT p.R1270H MLLT4_uc003qwb.1_Missense_Mutation_p.R1255H|MLLT4_uc003qwc.1_Missense_Mutation_p.R1271H|MLLT4_uc003qwg.1_Missense_Mutation_p.R580H NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1271 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTTTTGCAGCGTGTTACACGT 0.353000 T MLL AL GPR146 115330 broad.mit.edu 37 7 1097720 1097720 + Missense_Mutation SNP C C T rs142169372 TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:1097720C>T uc003sjw.2 + 2 645 c.569C>T c.(568-570)ACG>ATG p.T190M C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.T190M|GPR146_uc003sjy.1_Missense_Mutation_p.T190M NM_138445 NP_612454 Q96CH1 GP146_HUMAN G protein-coupled receptor 146 190 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCCGACGCCACGCTGGTGTTC 0.652000 HDAC9 9734 broad.mit.edu 37 7 18630090 18630090 + Silent SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:18630090C>A uc003suh.2 + 3 428 c.387C>A c.(385-387)GGC>GGA p.G129G HDAC9_uc003sue.2_Silent_p.G129G|HDAC9_uc011jyd.1_Silent_p.G129G|HDAC9_uc003sui.2_Silent_p.G132G|HDAC9_uc003suj.2_Silent_p.G132G|HDAC9_uc011jya.1_Silent_p.G170G|HDAC9_uc003sua.1_Silent_p.G151G|HDAC9_uc011jyb.1_Silent_p.G129G|HDAC9_uc003sud.1_Silent_p.G129G|HDAC9_uc011jyc.1_Silent_p.G132G|HDAC9_uc003suf.1_Silent_p.G160G|HDAC9_uc010kud.1_Silent_p.G132G|HDAC9_uc011jye.1_Silent_p.G101G|HDAC9_uc011jyf.1_Silent_p.G98G|HDAC9_uc010kue.1_5'UTR NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 129 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CTCTCAGAGGCAAAGATAGAG 0.468000 DNAH11 8701 broad.mit.edu 37 7 21639427 21639427 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:21639427C>A uc003svc.2 + 15 2721 c.2690C>A c.(2689-2691)GCC>GAC p.A897D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 897 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTCTTCAAAGCCAATCCCTCT 0.338000 Kartagener_syndrome HEPACAM2 253012 broad.mit.edu 37 7 92826556 92826556 + Nonsense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:92826556G>T uc003umm.2 - 7 1222 c.1199C>A c.(1198-1200)TCA>TAA p.S400* HEPACAM2_uc003uml.2_Nonsense_Mutation_p.S388*|HEPACAM2_uc010lff.2_Missense_Mutation_p.Q380K|HEPACAM2_uc011khy.1_Nonsense_Mutation_p.S423* NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 400 Cytoplasmic (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 GCCATTACCTGAAAATGTTTG 0.274000 COL1A2 1278 broad.mit.edu 37 7 94052411 94052411 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:94052411C>G uc003ung.1 + 40 3017 c.2546C>G c.(2545-2547)TCT>TGT p.S849C COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 849 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AAGGGTCCCTCTGGAGAGGCT 0.507000 HNSCC(75;0.22) LRRN3 54674 broad.mit.edu 37 7 110763771 110763771 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:110763771G>A uc003vft.3 + 4 1989 c.943G>A c.(943-945)GAA>AAA p.E315K IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E315K|LRRN3_uc003vfs.3_Missense_Mutation_p.E315K NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 315 Extracellular (Potential).|LRR 11. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AAGAAAAATAGAAGCTACTAA 0.408000 C7orf60 154743 broad.mit.edu 37 7 112462090 112462090 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:112462090T>G uc003vgo.1 - 5 1054 c.927A>C c.(925-927)AAA>AAC p.K309N C7orf60_uc011kms.1_Missense_Mutation_p.K335N NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 309 ovary(2)|skin(1) 3 TATGTGAAAATTTTGAGTACT 0.398000 CHRM2 1129 broad.mit.edu 37 7 136700588 136700588 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr7:136700588A>G uc003vtf.1 + 4 1599 c.976A>G c.(976-978)AGA>GGA p.R326G CHRM2_uc003vtg.1_Missense_Mutation_p.R326G|CHRM2_uc003vtj.1_Missense_Mutation_p.R326G|CHRM2_uc003vtk.1_Missense_Mutation_p.R326G|CHRM2_uc003vtl.1_Missense_Mutation_p.R326G|CHRM2_uc003vtm.1_Missense_Mutation_p.R326G|CHRM2_uc003vti.1_Missense_Mutation_p.R326G|CHRM2_uc003vto.1_Missense_Mutation_p.R326G|CHRM2_uc003vtn.1_Missense_Mutation_p.R326G|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 326 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AACATGCATCAGAATTGGCAC 0.448000 CSMD1 64478 broad.mit.edu 37 8 3432554 3432554 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:3432554G>A uc011kwk.1 - 10 1650 c.1260C>T c.(1258-1260)AGC>AGT p.S420S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 420 CUB 3.|Extracellular (Potential). 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) TAATGACGCCGCTGGGCCCAC 0.483000 USP17L2 377630 broad.mit.edu 37 8 11994792 11994792 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:11994792G>T uc003wvc.1 - 1 1478 c.1478C>A c.(1477-1479)ACC>AAC p.T493N FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 493 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 ATCTGTCCGGGTCGTCGAAGA 0.512000 TMEM66 51669 broad.mit.edu 37 8 29927339 29927339 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:29927339C>T uc003xhs.2 - 3 703 c.519G>A c.(517-519)ATG>ATA p.M173I TMEM66_uc003xht.2_Missense_Mutation_p.M173I|TMEM66_uc003xhu.2_Missense_Mutation_p.M137I|TMEM66_uc003xhv.2_Missense_Mutation_p.M1I NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 173 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TCAATCCACTCATGTTACAGG 0.473000 PXDNL 137902 broad.mit.edu 37 8 52370214 52370214 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:52370214A>C uc003xqu.3 - 9 927 c.826T>G c.(826-828)TTG>GTG p.L276V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 276 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCATCTTCCAAATCCAATGAG 0.368000 PXDNL 137902 broad.mit.edu 37 8 52384802 52384802 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:52384802A>C uc003xqu.3 - 8 858 c.757T>G c.(757-759)TTC>GTC p.F253V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 253 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGGCAGGTGAAGTAGACGGTA 0.438000 CYP7A1 1581 broad.mit.edu 37 8 59410883 59410883 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:59410883C>T uc003xtm.3 - 2 289 c.226G>A c.(226-228)GTC>ATC p.V76I NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 76 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGAAATGGACATATTTTCCC 0.398000 Neonatal_Giant_Cell_Hepatitis RRS1 23212 broad.mit.edu 37 8 67341800 67341800 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:67341800G>A uc003xwa.2 + 1 538 c.434G>A c.(433-435)GGC>GAC p.G145D ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 145 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) CGGCGCTGGGGCTACCAGCGC 0.652000 SULF1 23213 broad.mit.edu 37 8 70533427 70533427 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:70533427G>A uc010lza.1 + 14 2252 c.1535G>A c.(1534-1536)CGT>CAT p.R512H SULF1_uc003xyd.2_Missense_Mutation_p.R512H|SULF1_uc003xye.2_Missense_Mutation_p.R512H|SULF1_uc003xyf.2_Missense_Mutation_p.R512H|SULF1_uc003xyg.2_Missense_Mutation_p.R512H|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 512 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TCTGGTTACCGTGCCAGCAGA 0.547000 NCOA2 10499 broad.mit.edu 37 8 71078867 71078867 + Nonsense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:71078867G>A uc003xyn.1 - 7 826 c.664C>T c.(664-666)CAG>TAG p.Q222* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 222 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TCATATTTCTGATGAGCTTCC 0.473000 T RUNXBP2 AML RGS22 26166 broad.mit.edu 37 8 101092395 101092395 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:101092395T>C uc003yjb.1 - 4 501 c.306A>G c.(304-306)GAA>GAG p.E102E RGS22_uc003yja.1_Silent_p.E6E|RGS22_uc003yjc.1_Silent_p.E102E|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 102 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGGTCTCATCTTCATCGGGGG 0.323000 RIMS2 9699 broad.mit.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:104898096T>G uc003yls.2 + 2 844 c.603T>G c.(601-603)TCT>TCG p.S201S RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 454 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S231S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACCAAGTTCTTATGCACAAA 0.478000 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 104898323 104898323 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:104898323A>T uc003yls.2 + 2 1071 c.830A>T c.(829-831)CAT>CTT p.H277L RIMS2_uc003ylp.2_Missense_Mutation_p.H499L|RIMS2_uc003ylw.2_Missense_Mutation_p.H307L|RIMS2_uc003ylq.2_Missense_Mutation_p.H307L|RIMS2_uc003ylr.2_Missense_Mutation_p.H307L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 530 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAAAGCCTCATAAATCAAAG 0.423000 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105161047 105161047 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:105161047G>T uc003yls.2 + 23 3600 c.3359G>T c.(3358-3360)AGT>ATT p.S1120I RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1109I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCACGGAAAAGTCGCAGTGCT 0.453000 HNSCC(12;0.0054) SNTB1 6641 broad.mit.edu 37 8 121587425 121587425 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:121587425A>C uc010mdg.2 - 4 1263 c.1037T>G c.(1036-1038)GTT>GGT p.V346G SNTB1_uc003ype.2_Missense_Mutation_p.V346G NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 346 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) AGTCAGCACAACCAGGGCTGG 0.493000 TRAPPC9 83696 broad.mit.edu 37 8 141381153 141381153 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:141381153C>T uc003yvj.2 - 8 1395 c.1261G>A c.(1261-1263)GCG>ACG p.A421T TRAPPC9_uc003yvh.2_Missense_Mutation_p.A519T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A412T NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 421 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CCAGGCTCCGCGATGCTTGGG 0.597000 EPPK1 83481 broad.mit.edu 37 8 144940246 144940246 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr8:144940246G>A uc003zaa.1 - 2 15199 c.15186C>T c.(15184-15186)CAC>CAT p.H5062H NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5062 Plectin 65. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 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) TGAGGTTCTCGTGCGTGTTGG 0.622000 PTPRD 5789 broad.mit.edu 37 9 8518071 8518071 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:8518071T>G uc003zkk.2 - 20 2031 c.1320A>C c.(1318-1320)GAA>GAC p.E440D PTPRD_uc003zkp.2_Missense_Mutation_p.E440D|PTPRD_uc003zkq.2_Missense_Mutation_p.E440D|PTPRD_uc003zkr.2_Missense_Mutation_p.E434D|PTPRD_uc003zks.2_Missense_Mutation_p.E430D|PTPRD_uc003zkl.2_Missense_Mutation_p.E440D|PTPRD_uc003zkm.2_Missense_Mutation_p.E427D|PTPRD_uc003zkn.2_Missense_Mutation_p.E440D|PTPRD_uc003zko.2_Missense_Mutation_p.E437D NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 440 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 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) GCTCTTCAGGTTCCTTCCACT 0.463000 TSP Lung(15;0.13) ANKRD20A3 441425 broad.mit.edu 37 9 67952005 67952005 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:67952005G>C uc004aeu.2 + 9 1080 c.968G>C c.(967-969)GGA>GCA p.G323A ANKRD20A3_uc010mnn.2_Missense_Mutation_p.G322A NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 323 0 ATAGTCAATGGACAAGGAGAA 0.294000 WNK2 65268 broad.mit.edu 37 9 96051437 96051437 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:96051437C>T uc004ati.1 + 20 4512 c.4512C>T c.(4510-4512)GAC>GAT p.D1504D WNK2_uc011lud.1_Silent_p.D1467D|WNK2_uc004atj.2_Silent_p.D1467D|WNK2_uc004atk.2_Silent_p.D1104D|WNK2_uc004atl.1_Silent_p.D62D NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1504 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CAACCAGGGACGCCAGTGCCC 0.692000 SVEP1 79987 broad.mit.edu 37 9 113261413 113261413 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:113261413C>T uc010mtz.2 - 7 1926 c.1589G>A c.(1588-1590)CGC>CAC p.R530H SVEP1_uc010mua.1_Missense_Mutation_p.R530H|SVEP1_uc004beu.2_Missense_Mutation_p.R530H NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 530 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAACCCTTGGCGGCAACTTAC 0.473000 TLR4 7099 broad.mit.edu 37 9 120476158 120476158 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:120476158T>G uc004bjz.2 + 3 2043 c.1752T>G c.(1750-1752)ACT>ACG p.T584T TLR4_uc004bka.2_Silent_p.T544T|TLR4_uc004bkb.2_Silent_p.T384T NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 584 LRRCT.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTGCTTGTACTTGTGAACACC 0.418000 FBXW2 26190 broad.mit.edu 37 9 123527025 123527025 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:123527025G>A uc004bkl.1 - 8 1338 c.1177C>T c.(1177-1179)CGG>TGG p.R393W FBXW2_uc011lyc.1_Missense_Mutation_p.R264W|FBXW2_uc004bkn.2_Missense_Mutation_p.R425W|FBXW2_uc004bkm.1_Missense_Mutation_p.R393W|FBXW2_uc010mvj.1_Missense_Mutation_p.R328W NM_012164 NP_036296 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 393 proteolysis protein binding|ubiquitin-protein ligase activity urinary_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 CTCTCTGTCCGCAAGTCCATG 0.517000 OR1K1 392392 broad.mit.edu 37 9 125563076 125563076 + Silent SNP C C T rs148468818 by1000genomes TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:125563076C>T uc011lze.1 + 1 675 c.675C>T c.(673-675)GCC>GCT p.A225A NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCGCAGCTGCCGTGCTCCAGC 0.642000 SLC25A25 114789 broad.mit.edu 37 9 130869718 130869718 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:130869718C>T uc004bte.2 + 10 1434 c.1405C>T c.(1405-1407)CGG>TGG p.R469W SLC25A25_uc004btb.2_Missense_Mutation_p.R503W|SLC25A25_uc004btc.2_Missense_Mutation_p.R489W|SLC25A25_uc004btd.2_Missense_Mutation_p.R501W|SLC25A25_uc004btf.2_Missense_Mutation_p.R366W NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 469 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 CGTGCAGTCGCGGTGACGGGG 0.622000 SETX 23064 broad.mit.edu 37 9 135205095 135205095 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:135205095C>T uc004cbk.2 - 10 2073 c.1890G>A c.(1888-1890)ACG>ACA p.T630T SETX_uc004cbj.2_Silent_p.T249T|SETX_uc010mzt.2_Silent_p.T249T NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 630 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTTTTCTAGACGTCTTCCCCA 0.373000 CACNA1B 774 broad.mit.edu 37 9 140904511 140904511 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr9:140904511C>T uc004cog.2 + 17 2287 c.2142C>T c.(2140-2142)AAC>AAT p.N714N CACNA1B_uc011mfd.1_Silent_p.N245N NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 714 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACCTGGCCAACGCCCAAGAGC 0.607000 PDHA1 5160 broad.mit.edu 37 X 19372671 19372671 + Silent SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:19372671G>C uc004czg.3 + 6 718 c.573G>C c.(571-573)CTG>CTC p.L191L PDHA1_uc004czh.3_Silent_p.L226L|PDHA1_uc011mjc.1_Silent_p.L195L|PDHA1_uc011mjd.1_Intron|PDHA1_uc010nfk.2_Silent_p.L188L|PDHA1_uc010nfl.2_5'Flank NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 191 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) AGGTCTGCCTGACTTTATATG 0.403000 FAM123B 139285 broad.mit.edu 37 X 63409832 63409832 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:63409832T>G uc004dvo.2 - 2 3608 c.3335A>C c.(3334-3336)GAG>GCG p.E1112A NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 1112 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CTCAGCCCTCTCCTTTGACAG 0.572000 AR 367 broad.mit.edu 37 X 66941796 66941796 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:66941796T>G uc004dwu.1 + 6 3555 c.2440T>G c.(2440-2442)TTC>GTC p.F814V AR_uc004dwv.1_Missense_Mutation_p.F282V NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 813 Ligand-binding.|Interaction with MYST2. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ACTGCTACTCTTCAGCATTAG 0.488000 Androgen_Insensitivity_Syndrome HDAC8 55869 broad.mit.edu 37 X 71549911 71549911 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:71549911A>G uc004eau.2 - 11 1169 c.1127T>C c.(1126-1128)GTG>GCG p.V376A HDAC8_uc011mqe.1_Missense_Mutation_p.V233A|HDAC8_uc011mqf.1_Missense_Mutation_p.V181A|HDAC8_uc011mqg.1_Missense_Mutation_p.V285A NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN histone deacetylase 8 376 chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding 0 Renal(35;0.156) Vorinostat(DB02546) CAACTAGACCACATGCTTCAG 0.348000 ATRX 546 broad.mit.edu 37 X 76944359 76944359 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:76944359T>C uc004ecp.3 - 7 778 c.546A>G c.(544-546)CAA>CAG p.Q182Q ATRX_uc004ecq.3_Silent_p.Q144Q|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.Q143Q|ATRX_uc010nlx.1_Silent_p.Q182Q|ATRX_uc010nly.1_Silent_p.Q127Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 182 ADD.|GATA-type; atypical. Missing (in ATRX). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TGGAATCTTTTTGAAAATGAT 0.313000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome CYLC1 1538 broad.mit.edu 37 X 83124879 83124879 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:83124879A>C uc004eei.1 + 2 45 c.24A>C c.(22-24)AAA>AAC p.K8N CYLC1_uc004eeh.1_Missense_Mutation_p.K7N NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 8 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATAGGCTAAAAGTAAACATCA 0.214000 CYLC1 1538 broad.mit.edu 37 X 83129288 83129288 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:83129288T>C uc004eei.1 + 4 1593 c.1572T>C c.(1570-1572)TTT>TTC p.F524F CYLC1_uc004eeh.1_Silent_p.F523F NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 524 7. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATGCTGAATTTGATGAATCTT 0.353000 DACH2 117154 broad.mit.edu 37 X 85950165 85950165 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:85950165A>T uc004eew.2 + 5 1084 c.914A>T c.(913-915)AAC>ATC p.N305I DACH2_uc004eex.2_Missense_Mutation_p.N292I|DACH2_uc010nmq.2_Missense_Mutation_p.N171I|DACH2_uc011mra.1_Missense_Mutation_p.N138I|DACH2_uc010nmr.2_Missense_Mutation_p.N86I NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CTGCAGCAGAACCACCTGCTA 0.512000 FAM133A 286499 broad.mit.edu 37 X 92965165 92965165 + Nonstop_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:92965165A>T uc004efr.1 + 4 1060 c.747A>T c.(745-747)TAA>TAT p.*249Y NM_173698 NP_775969 Q8N9E0 F133A_HUMAN hypothetical protein LOC286499 249 0 AGTCAAGGTAACATCAAGAAA 0.284000 IL1RAPL2 26280 broad.mit.edu 37 X 104512136 104512136 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:104512136A>C uc004elz.1 + 5 1365 c.609A>C c.(607-609)GAA>GAC p.E203D NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 203 Ig-like C2-type 2.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TGATCCAAGAAGTTCAAGAAG 0.333000 MUM1L1 139221 broad.mit.edu 37 X 105450084 105450084 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:105450084T>C uc004emf.1 + 4 1308 c.659T>C c.(658-660)GTG>GCG p.V220A MUM1L1_uc004emg.1_Missense_Mutation_p.V220A NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 220 ovary(2)|pancreas(1)|skin(1) 4 GTTATGTCTGTGCATTCTGCA 0.388000 MAGEC3 139081 broad.mit.edu 37 X 140985099 140985099 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:140985099G>T uc011mwp.1 + 7 1555 c.1555G>T c.(1555-1557)GAC>TAC p.D519Y MAGEC3_uc004fbs.2_Missense_Mutation_p.D221Y|MAGEC3_uc010nsj.2_Missense_Mutation_p.D221Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 519 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TATGGACCCCGACAACCACTC 0.443000 AFF2 2334 broad.mit.edu 37 X 148039901 148039901 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:148039901A>C uc004fcp.2 + 12 3082 c.2603A>C c.(2602-2604)AAG>ACG p.K868T AFF2_uc004fcq.2_Missense_Mutation_p.K858T|AFF2_uc004fcr.2_Missense_Mutation_p.K829T|AFF2_uc011mxb.1_Missense_Mutation_p.K833T|AFF2_uc004fcs.2_Missense_Mutation_p.K835T|AFF2_uc011mxc.1_Missense_Mutation_p.K509T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 868 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCTGAGAAGAAGCAGCGCCTG 0.488000 GABRQ 55879 broad.mit.edu 37 X 151820193 151820193 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:151820193G>A uc004ffp.1 + 8 1126 c.1106G>A c.(1105-1107)CGA>CAA p.R369Q NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 369 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGACCCCGAAGAGTCATT 0.517000 MAGEA6 4105 broad.mit.edu 37 X 151869646 151869646 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chrX:151869646G>C uc004ffq.1 + 3 530 c.336G>C c.(334-336)AAG>AAC p.K112N MAGEA6_uc004ffr.1_Missense_Mutation_p.K112N|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 112 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTAGGAAGGTGGCCAAGT 0.542000 BRIX1 55299 broad.mit.edu 37 5 34922876 34922876 + Splice_Site DEL A A - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:34922875_34922875TA>T uc003jja.3 + 6 534 c.510_splice c.e6+2 p.P170_splice BRIX1_uc011col.1_Frame_Shift_Del_p.V171fs NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA. 170 Brix. ribosome biogenesis|translation nucleolus ATP binding|aminoacyl-tRNA ligase activity|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 TTTGACCCTGTAAGTTTCTCA 0.368 PKD2L2 27039 broad.mit.edu 37 5 137226241 137226245 + Frame_Shift_Del DEL TACTT TACTT - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:137226241_137226245delTACTT uc003lby.2 + 2 159_163 c.103_107delTACTT c.(103-108)TACTTTfs p.Y35fs PKD2L2_uc010jep.1_5'UTR|PKD2L2_uc003lbw.1_Frame_Shift_Del_p.Y35fs|PKD2L2_uc003lbx.2_Frame_Shift_Del_p.Y35fs NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 35_36 Helical; (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATTGTTACTCTACTTTATTTTTTTA 0.283 MIA3 375056 broad.mit.edu 37 1 222837352 222837353 + Frame_Shift_Ins INS - - C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr1:222837351_222837352T>TC uc001hnl.3 + 26 5283_5284 c.5274_5275T>TC c.(5272-5277)gctccafs p.A1758fs MIA3_uc001hnm.3_Frame_Shift_Ins_p.A636fs NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1758 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TTAATATGGCTCCAAAAGGGCC 0.485 BRIX1 55299 broad.mit.edu 37 5 34922876 34922876 + Splice_Site DEL A A - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr5:34922875_34922875TA>T uc003jja.3 + 6 534 c.510_splice c.e6+2 p.P170_splice BRIX1_uc011col.1_Frame_Shift_Del_p.V171fs NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA. 170 Brix. ribosome biogenesis|translation nucleolus ATP binding|aminoacyl-tRNA ligase activity|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 TTTGACCCTGTAAGTTTCTCA 0.368 OR56B1 387748 broad.mit.edu 37 11 5758135 5758136 + Frame_Shift_Del DEL AT AT - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr11:5758134_5758135GAT>G uc001mbt.2 + 0 457_458 c.388_389GAT>G c.(388-390)gatfs p.D130fs TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Frame_Shift_Del_p.D130fs|OR56B1_uc009yev.1_Frame_Shift_Del_p.D130fs NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA. 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CATGGCTTTTGATAGATATGTG 0.436 TTC3 7267 broad.mit.edu 37 21 38494204 38494204 + Frame_Shift_Del DEL A A - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca g.chr21:38494203_38494203TA>T uc002yvz.3 + 11 1092 c.987_987TA>T c.(985-987)tgtfs p.C329fs TTC3_uc011aee.1_Frame_Shift_Del_p.C19fs|TTC3_uc002ywa.3_Frame_Shift_Del_p.C329fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.C329fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.C94fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.C19fs|TTC3_uc011aed.1_Frame_Shift_Del_p.C19fs|TTC3_uc010gne.1_Frame_Shift_Del_p.C329fs NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 329 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAAAACTCTGTAAAAATGACC 0.383