Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PLXNA3 55558 broad.mit.edu 37 X 153689068 153689068 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:153689068G>A ENST00000369682.3 + 2 720 c.545G>A c.(544-546)aGc>aAc p.S182N NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 182 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCACCTTGAGCTCCCGCAAG 0.597000 14 96 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Missense_Mutation SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr17:76993313T>C ENST00000302345.2 - 2 886 c.392A>G c.(391-393)aAg>aGg p.K131R CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577000 T ETV4 prostate 5 585 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150748969 150748969 + Silent SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:150748969T>C ENST00000357922.4 + 7 1881 c.1287T>C c.(1285-1287)taT>taC p.Y429Y ASIC3_ENST00000349064.5_Silent_p.Y429Y|ASIC3_ENST00000297512.8_Silent_p.Y429Y NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 429 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity AGAAGGCCTATGAGATGTCAG 0.587000 5 138 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75590991 75590991 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:75590991C>A ENST00000356136.3 + 4 580 c.339C>A c.(337-339)ttC>ttA p.F113L UVRAG_ENST00000528420.1_Missense_Mutation_p.F12L NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 113 C2. DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TGTCTTGTTTCGTGGTGAAGA 0.438000 37 733 5.43694e-19 6.25488e-19 1 1 0 KIAA2022 340533 broad.mit.edu 37 X 73960214 73960214 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:73960214C>T ENST00000373468.1 - 3 4829 c.4178G>A c.(4177-4179)aGg>aAg p.R1393K KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1393K Q5QGS0 K2022_HUMAN KIAA2022 1393 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTTGATTGACCTGTGATTCTT 0.443000 36 37 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 102 0 0 1 0 0 ARL14EP 120534 broad.mit.edu 37 11 30352518 30352518 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:30352518G>A ENST00000282032.3 + 2 238 c.23G>A c.(22-24)gGa>gAa p.G8E NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein TGTTCAGTTGGAGTCCAGCTT 0.368000 10 38 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619890 77619890 + Silent SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:77619890G>A ENST00000521891.2 + 3 3148 c.2700G>A c.(2698-2700)gcG>gcA p.A900A ZFHX4_ENST00000050961.6_Silent_p.A874A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.A874A|ZFHX4_ENST00000455469.2_Silent_p.A874A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 874 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGACCCAGCGCTGAAGCTAT 0.547000 HNSCC(33;0.089) 24 142 0 0 1 0 0 KISS1 3814 broad.mit.edu 37 1 204161910 204161910 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:204161910C>T ENST00000367194.4 - 2 243 c.95G>A c.(94-96)aGa>aAa p.R32K NM_002256.3 NP_002247.3 Q15726 KISS1_HUMAN KiSS-1 metastasis-suppressor 32 cytoskeleton organization extracellular region protein binding large_intestine(1)|lung(1)|ovary(1) 3 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) Breast(1374;9.42e-05) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239) Colorectal(1306;0.0129) ACCTGTGGGTCTAGAATTCCC 0.502000 25 6 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537498 55537498 + Silent SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:55537498T>C ENST00000220676.1 + 4 1204 c.1056T>C c.(1054-1056)acT>acC p.T352T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 352 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGACAACTACTGTCAGTAAAA 0.348000 14 175 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600878 27600878 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:27600878G>T ENST00000323703.6 - 4 1358 c.1160C>A c.(1159-1161)cCc>cAc p.P387H ZNF513_ENST00000407879.1_Missense_Mutation_p.P325H|ZNF513_ENST00000491924.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 387 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGCGGAAGGGCTTCTCACC 0.597000 42 234 9.45407e-15 1.05951e-14 1 1 0 IGSF8 93185 broad.mit.edu 37 1 160063722 160063722 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:160063722C>A ENST00000368086.1 - 3 898 c.682G>T c.(682-684)Gtg>Ttg p.V228L IGSF8_ENST00000314485.7_Missense_Mutation_p.V228L|IGSF8_ENST00000460351.1_5'UTR Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 228 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCAGCCTCCACGGCCAAGTCT 0.627000 18 78 8.04996e-18 9.17978e-18 1 1 0 PRPF6 24148 broad.mit.edu 37 20 62631000 62631000 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr20:62631000C>T ENST00000535781.1 + 8 1022 c.911C>T c.(910-912)aCg>aTg p.T304M ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 304 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GTTCGGGAGACGAACCCTCAT 0.577000 51 101 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32408205 32408205 + Nonsense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:32408205G>A ENST00000357033.4 - 31 4533 c.4327C>T c.(4327-4329)Cag>Tag p.Q1443* DMD_ENST00000378677.2_Nonsense_Mutation_p.Q1439* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1443 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACATCAATCTGAGACAGGACT 0.388000 13 19 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102043099 102043099 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:102043099G>T ENST00000549145.1 + 14 1322 c.1222G>T c.(1222-1224)Ggt>Tgt p.G408C MYBPC1_ENST00000551300.1_Missense_Mutation_p.G296C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G369C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G383C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G376C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G395C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G395C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G395C|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G382C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G420C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G420C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G381C|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G395C Q00872 MYPC1_HUMAN myosin binding protein C, slow type 395 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TAGAGTTGAGGGTAAAAAACA 0.348000 14 82 2.23348e-06 2.37994e-06 1 1 0 SIGLEC5 8778 broad.mit.edu 37 19 52129337 52129337 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:52129337C>A ENST00000222107.4 - 8 1550 c.1412G>T c.(1411-1413)gGg>gTg p.G471V SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G471V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G471V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G471V|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G471V O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 471 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTCTGGTCTCCCAGCTGCTTG 0.547000 7 65 5.18039e-06 5.47521e-06 1 1 0 RYR1 6261 broad.mit.edu 37 19 38974129 38974129 + Missense_Mutation SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:38974129T>C ENST00000355481.4 + 33 5038 c.4907T>C c.(4906-4908)aTg>aCg p.M1636T RYR1_ENST00000360985.3_Missense_Mutation_p.M1636T|RYR1_ENST00000359596.3_Missense_Mutation_p.M1636T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1636 6 X approximate repeats. 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 NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGACCATGATGGCGCTGCAC 0.687000 3 4 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155165884 155165884 + Silent SNP C C T rs146591443 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:155165884C>T ENST00000368378.3 - 22 2726 c.2706G>A c.(2704-2706)gcG>gcA p.A902A THBS3_ENST00000457183.2_Silent_p.A782A|THBS3_ENST00000541990.1_Silent_p.A431A|THBS3_ENST00000541576.1_Silent_p.A299A|THBS3_ENST00000487250.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 902 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCCAGAATCCGCCACAAGCT 0.527000 14 193 0 0 1 0 0 JUND 3727 broad.mit.edu 37 19 18391463 18391463 + Missense_Mutation SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:18391463T>C ENST00000252818.3 - 1 969 c.832A>G c.(832-834)Aac>Gac p.N278D NM_005354.4 NP_005345.3 P17535 JUND_HUMAN jun D proto-oncogene 278 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|prostate(1) 3 GCGATGCGGTTGCGCAGCCGC 0.662000 8 23 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49933673 49933673 + Silent SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr3:49933673G>T ENST00000296474.3 - 10 2631 c.2604C>A c.(2602-2604)gcC>gcA p.A868A MST1R_ENST00000344206.4_Silent_p.A868A NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 868 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GAACTAGGTTGGCACTGGGTG 0.577000 8 169 0.0477658 0.0488941 1 1 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 5 262 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133502234 133502234 + Silent SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:133502234T>C ENST00000253861.4 + 11 1700 c.1671T>C c.(1669-1671)ccT>ccC p.P557P EXOC4_ENST00000545148.1_Silent_p.P167P|EXOC4_ENST00000539845.1_Silent_p.P456P|EXOC4_ENST00000460346.1_3'UTR NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 557 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CATCTGACCCTTTGAAGATTC 0.428000 9 44 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5564656 5564656 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr4:5564656C>G ENST00000310917.2 - 22 4337 c.3606G>C c.(3604-3606)gaG>gaC p.E1202D EVC2_ENST00000344408.5_Missense_Mutation_p.E1282D|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1282 integral to membrane p.E1282D(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GCAGTGAGATCTCTGGCTCCT 0.483000 26 167 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848905 117848905 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr9:117848905C>T ENST00000350763.4 - 3 1516 c.1105G>A c.(1105-1107)Ggt>Agt p.G369S TNC_ENST00000346706.3_Missense_Mutation_p.G369S|TNC_ENST00000542877.1_Missense_Mutation_p.G369S|TNC_ENST00000341037.4_Missense_Mutation_p.G369S|TNC_ENST00000537320.1_Missense_Mutation_p.G369S|TNC_ENST00000423613.2_Missense_Mutation_p.G369S|TNC_ENST00000535648.1_Missense_Mutation_p.G369S|TNC_ENST00000345230.3_Missense_Mutation_p.G369S|TNC_ENST00000340094.3_Missense_Mutation_p.G369S NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 369 EGF-like 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CAGTCCACACCGGCAAAGCCC 0.597000 17 101 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832787 101832787 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:101832787G>A ENST00000263468.8 + 6 1291 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K KIAA1377_ENST00000537689.1_Missense_Mutation_p.E142K NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 341 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCCTTCATGGGAATATTTTAA 0.323000 10 172 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11446636 11446636 + Missense_Mutation SNP A A C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:11446636A>C ENST00000423059.3 - 21 4214 c.3963T>G c.(3961-3963)gaT>gaG p.D1321E AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1321 TSP type-1 13. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATGGTCTTCCATCACCTTGAA 0.483000 HNSCC(18;0.044) 3 32 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947382 145947382 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:145947382G>T ENST00000292562.7 - 5 1938 c.1663C>A c.(1663-1665)Ctg>Atg p.L555M ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GTCCAGCGCAGAATGAGATTT 0.488000 26 118 1.80694e-10 1.97397e-10 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140482367 140482367 + Silent SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr5:140482367C>A ENST00000231130.2 + 1 2134 c.2134C>A c.(2134-2136)Cgg>Agg p.R712R NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 712 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGGCGGTGCGGCTGTGCAG 0.687000 85 179 9.53958e-58 1.12741e-57 1 1 0 GATA2 2624 broad.mit.edu 37 3 128204702 128204702 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr3:128204702G>C ENST00000341105.2 - 3 1070 c.739C>G c.(739-741)Ccc>Gcc p.P247A GATA2_ENST00000487848.1_Missense_Mutation_p.P247A|GATA2_ENST00000430265.2_Missense_Mutation_p.P247A NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 247 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGGTAGGTGGGGATGGGGTGG 0.657000 Mis AML(CML blast transformation) 9 68 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12367018 12367018 + Silent SNP G G A rs141538541 byFrequency TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr18:12367018G>A ENST00000269143.3 - 5 729 c.498C>T c.(496-498)tcC>tcT p.S166S NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 166 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) TTTCTCTCCCGGATCTCTTGA 0.438000 36 102 0 0 1 0 0 CLN8 2055 broad.mit.edu 37 8 1719225 1719225 + Missense_Mutation SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:1719225A>G ENST00000331222.4 + 2 252 c.5A>G c.(4-6)aAt>aGt p.N2S NM_018941.3 NP_061764.2 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 2 cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) TGGACAATGAATCCTGCGAGC 0.557000 33 61 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480823 140480823 + Missense_Mutation SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr5:140480823A>G ENST00000231130.2 + 1 590 c.590A>G c.(589-591)gAt>gGt p.D197G AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 197 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAGTACTGGATAAAGCGCTC 0.567000 3 94 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33139881 33139881 + Splice_Site SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:33139881C>T ENST00000341947.2 - 41 3216 c.e41-1 COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CAGGTCCACCCTATGAACCAG 0.567000 36 477 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211296 72211296 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:72211296G>C ENST00000340726.3 - 9 1451 c.812C>G c.(811-813)aCa>aGa p.T271R EYA1_ENST00000388743.2_Missense_Mutation_p.T270R|EYA1_ENST00000388742.4_Missense_Mutation_p.T271R|EYA1_ENST00000419131.1_Missense_Mutation_p.T266R|EYA1_ENST00000388740.3_Missense_Mutation_p.T238R|EYA1_ENST00000388741.2_Missense_Mutation_p.T237R|EYA1_ENST00000303824.7_Missense_Mutation_p.T265R NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 271 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGTGGGATCTGTAACTGCTTG 0.438000 17 266 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1465272 1465272 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:1465272C>T ENST00000535453.1 + 14 3685 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C APC2_ENST00000238483.4_Missense_Mutation_p.R384C|APC2_ENST00000233607.2_Missense_Mutation_p.R658C|C19orf25_ENST00000588427.1_Intron O95996 APC2_HUMAN adenomatosis polyposis coli 2 658 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCAGCGCCCGTGACCAGGA 0.657000 9 10 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56473470 56473470 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:56473470G>C ENST00000291971.3 + 4 2151 c.2080G>C c.(2080-2082)Gac>Cac p.D694H NLRP8_ENST00000590542.1_Missense_Mutation_p.D694H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 694 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGTGGCAAGACTTATGCTC 0.483000 21 142 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769799 57769799 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr20:57769799C>T ENST00000371030.2 + 1 3725 c.3725C>T c.(3724-3726)gCg>gTg p.A1242V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1242 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGAGGGCCGGCGCAGATGTCC 0.592000 10 42 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12728628 12728628 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:12728628C>G ENST00000380682.1 + 14 2087 c.1581C>G c.(1579-1581)aaC>aaG p.N527K NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 527 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding p.N527K(2) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 ACATGGCCAACAAGAAAAACA 0.483000 55 30 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214813510 214813510 + Missense_Mutation SNP A A C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:214813510A>C ENST00000366955.3 + 12 1997 c.1829A>C c.(1828-1830)gAa>gCa p.E610A NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 610 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAAGAATATGAAGAATTGAAA 0.323000 7 24 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151266281 151266281 + Splice_Site SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr5:151266281C>G ENST00000274576.4 - 3 545 c.e3+1 GLRA1_ENST00000471351.2_Splice_Site|GLRA1_ENST00000455880.2_Splice_Site|GLRA1_ENST00000545569.1_Splice_Site NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GACTTACTCACCATGGTTGTC 0.468000 30 54 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566808 55566808 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr10:55566808C>T ENST00000373965.2 - 36 4980 c.4586G>A c.(4585-4587)tGt>tAt p.C1529Y PCDH15_ENST00000414778.1_Missense_Mutation_p.C1526Y NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 592 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTTCTCTGACATTCAGGAGC 0.418000 HNSCC(58;0.16) 8 9 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080033 152080033 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:152080033C>G ENST00000368804.1 - 2 5659 c.5660G>C c.(5659-5661)cGc>cCc p.R1887P NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1887 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCTGCTGGCGGCGGATGTG 0.557000 102 392 0 0 1 0 0 ELAC1 55520 broad.mit.edu 37 18 48500908 48500908 + Missense_Mutation SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr18:48500908T>C ENST00000269466.3 + 2 241 c.134T>C c.(133-135)cTt>cCt p.L45P SMAD4_ENST00000452201.2_5'UTR|ELAC1_ENST00000588577.1_Missense_Mutation_p.L45P|ELAC1_ENST00000591429.1_Missense_Mutation_p.L45P|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.L45P|RP11-729L2.2_ENST00000588256.1_3'UTR NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 45 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) CAGACACAGCTTATGAAAAGC 0.483000 42 15 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206869685 206869685 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:206869685C>A ENST00000403263.1 - 11 2895 c.2491G>T c.(2491-2493)Gat>Tat p.D831Y NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 831 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 TGCTCACTATCATAATGGCTT 0.502000 45 246 1.19451e-25 1.39898e-25 1 1 0 CENPJ 55835 broad.mit.edu 37 13 25480585 25480585 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr13:25480585C>G ENST00000381884.4 - 7 1776 c.1591G>C c.(1591-1593)Ggg>Cgg p.G531R CENPJ_ENST00000545981.1_Missense_Mutation_p.G531R NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 531 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTGGCCGGCCCTGTTGAAAGA 0.453000 26 92 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113470497 113470497 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr13:113470497C>G ENST00000487903.1 + 6 630 c.542C>G c.(541-543)gCc>gGc p.A181G ATP11A_ENST00000283558.8_Missense_Mutation_p.A181G|ATP11A_ENST00000375645.3_Missense_Mutation_p.A181G|ATP11A_ENST00000375630.2_Missense_Mutation_p.A181G P98196 AT11A_HUMAN ATPase, class VI, type 11A 181 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) GTCACCACCGCCAGCTTGGAT 0.562000 15 73 0 0 1 0 0 ZBTB25 7597 broad.mit.edu 37 14 64954352 64954352 + Silent SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr14:64954352G>A ENST00000394715.1 - 6 1298 c.597C>T c.(595-597)ccC>ccT p.P199P ZBTB25_ENST00000261683.2_Silent_p.P199P|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 199 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TGGAAACTGGGGGCTTCTGGT 0.572000 106 158 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86037142 86037142 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:86037142G>C ENST00000414626.2 + 7 2069 c.1180G>C c.(1180-1182)Gac>Cac p.D394H LRRCC1_ENST00000360375.3_Missense_Mutation_p.D414H Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 414 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AATTAAAGTAGACCAAAGTCA 0.303000 6 151 0 0 1 0 0 PRSS23 11098 broad.mit.edu 37 11 86519507 86519507 + Silent SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:86519507G>C ENST00000280258.5 + 2 1247 c.822G>C c.(820-822)ggG>ggC p.G274G PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Silent_p.G242G NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 274 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGCTGCCAGGGGGCAGAATTC 0.488000 4 151 0 0 1 0 0 CLDN2 9075 broad.mit.edu 37 X 106171619 106171619 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:106171619G>T ENST00000541806.1 + 2 680 c.161G>T c.(160-162)tGt>tTt p.C54F CLDN2_ENST00000336803.1_Missense_Mutation_p.C54F|CLDN2_ENST00000540876.1_Missense_Mutation_p.C54F NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 54 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGGATGGAATGTGCCACACAC 0.567000 67 19 8.70839e-23 1.0108e-22 1 1 0 FBXO27 126433 broad.mit.edu 37 19 39517561 39517561 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:39517561G>C ENST00000292853.4 - 5 776 c.657C>G c.(655-657)ttC>ttG p.F219L FBXO27_ENST00000600828.1_Missense_Mutation_p.F218L|FBXO27_ENST00000509137.2_Missense_Mutation_p.F219L NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 219 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCACAGCAGAGAATTTATCTA 0.557000 82 307 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44096357 44096357 + Splice_Site SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:44096357G>T ENST00000494774.1 + 5 350 c.327_splice c.e5-1 p.G110_splice DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Splice_Site_p.G15_splice|DBNL_ENST00000440166.1_Splice_Site_p.G7_splice|DBNL_ENST00000448521.1_Splice_Site_p.G110_splice|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000468694.1_Splice_Site_p.G110_splice|DBNL_ENST00000452943.1_Splice_Site_p.G85_splice NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 110 ADF-H. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 CTGCTGCAGGGGGCCCATGTG 0.577000 8 57 1.08611e-07 1.17662e-07 1 1 0 ADCY10 55811 broad.mit.edu 37 1 167787500 167787500 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:167787500G>A ENST00000367848.1 - 31 4513 c.4016C>T c.(4015-4017)gCc>gTc p.A1339V ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1278V|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1431V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1431 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTGAAGTCTGGCATACCTGCA 0.383000 22 17 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5751795 5751795 + Silent SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:5751795G>A ENST00000381624.3 + 12 1186 c.1125G>A c.(1123-1125)gcG>gcA p.A375A CATSPERD_ENST00000381614.2_Silent_p.A33A NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 375 integral to membrane ATATCCAGGCGCTTCTCATGG 0.453000 15 22 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72338208 72338208 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr15:72338208G>C ENST00000356056.5 - 2 1169 c.697C>G c.(697-699)Cag>Gag p.Q233E MYO9A_ENST00000564571.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q233E|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 233 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ACGATGCACTGATTCTTTTTG 0.438000 4 145 0 0 1 0 0 PPTC7 160760 broad.mit.edu 37 12 110983768 110983768 + Silent SNP T T G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:110983768T>G ENST00000354300.3 - 3 807 c.519A>C c.(517-519)tcA>tcC p.S173S NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 173 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 GCTGCTCATCTGATCGGTGCA 0.562000 34 108 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71839934 71839934 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:71839934C>G ENST00000258104.3 + 39 4608 c.4331C>G c.(4330-4332)cCa>cGa p.P1444R DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.P1445R|DYSF_ENST00000413539.2_Missense_Mutation_p.P1475R|DYSF_ENST00000410020.3_Missense_Mutation_p.P1462R|DYSF_ENST00000410041.1_Missense_Mutation_p.P1462R|DYSF_ENST00000409744.1_Missense_Mutation_p.P1431R|DYSF_ENST00000409762.1_Missense_Mutation_p.P1461R|DYSF_ENST00000409651.1_Missense_Mutation_p.P1476R|DYSF_ENST00000409582.3_Missense_Mutation_p.P1461R|DYSF_ENST00000429174.2_Missense_Mutation_p.P1444R|DYSF_ENST00000394120.2_Missense_Mutation_p.P1445R NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1444 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGGGTGGCCCAGGTAGGGGA 0.622000 8 34 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251781 47251781 + Missense_Mutation SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:47251781T>C ENST00000296861.2 - 3 1529 c.1136A>G c.(1135-1137)aAg>aGg p.K379R NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 379 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCGGGGCCCCTTTTTCAGAGT 0.512000 3 114 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160281796 160281796 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:160281796C>T ENST00000241704.7 - 11 1167 c.938G>A c.(937-939)gGt>gAt p.G313D COPA_ENST00000368069.3_Missense_Mutation_p.G313D NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 313 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACAATCATACCACCATCATG 0.448000 138 46 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094916 150094916 + Silent SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:150094916C>T ENST00000329630.5 + 3 1454 c.1347C>T c.(1345-1347)aaC>aaT p.N449N NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCATCTGCAACGAGTGCGGCA 0.736000 3 15 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 3 123 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545739 82545739 + Nonsense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:82545739G>A ENST00000423517.2 - 7 11900 c.11563C>T c.(11563-11565)Cga>Tga p.R3855* PCLO_ENST00000437081.1_Nonsense_Mutation_p.R575*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3855* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3786 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTTCTTGGTCGCTCAATGCCA 0.468000 5 187 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54967430 54967430 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:54967430C>G ENST00000243052.3 + 10 1437 c.1001C>G c.(1000-1002)aCa>aGa p.T334R PDE1B_ENST00000538346.1_Missense_Mutation_p.T293R|PDE1B_ENST00000550620.1_Missense_Mutation_p.T314R|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 334 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GTGTTGGCCACAGACATGTCC 0.577000 46 191 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172195998 172195998 + Missense_Mutation SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:172195998A>G ENST00000375258.3 - 4 517 c.302T>C c.(301-303)tTc>tCc p.F101S B3KW44 B3KW44_HUMAN methyltransferase like 8 101 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 ACGATCCTTGAAAAACTTATT 0.323000 16 58 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52156432 52156432 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:52156432G>C ENST00000354534.5 + 15 2694 c.2516G>C c.(2515-2517)gGg>gCg p.G839A SCN8A_ENST00000545061.1_Missense_Mutation_p.G839A|SCN8A_ENST00000550891.1_Missense_Mutation_p.G839A NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 839 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GACGTGGAGGGGCTTTCAGTG 0.398000 8 54 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211435 72211435 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:72211435G>C ENST00000340726.3 - 9 1312 c.673C>G c.(673-675)Cag>Gag p.Q225E EYA1_ENST00000388743.2_Missense_Mutation_p.Q224E|EYA1_ENST00000388742.4_Missense_Mutation_p.Q225E|EYA1_ENST00000419131.1_Missense_Mutation_p.Q220E|EYA1_ENST00000388740.3_Missense_Mutation_p.Q192E|EYA1_ENST00000388741.2_Missense_Mutation_p.Q191E|EYA1_ENST00000303824.7_Missense_Mutation_p.Q219E NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 225 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGTGCGTACTGACCCTGGCCA 0.448000 31 303 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507446 76507446 + Silent SNP G G A rs147023916 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:76507446G>A ENST00000527881.1 + 2 1812 c.786G>A c.(784-786)tcG>tcA p.S262S TSKU_ENST00000333090.4_Silent_p.S262S Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 262 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) TGGACCTGTCGGGCAACCCCA 0.652000 17 259 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30791879 30791879 + Missense_Mutation SNP T T G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr18:30791879T>G ENST00000383096.3 - 20 2401 c.2219A>C c.(2218-2220)aAa>aCa p.K740T CCDC178_ENST00000403303.1_Missense_Mutation_p.K740T|CCDC178_ENST00000402325.1_Missense_Mutation_p.K740T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.K740T|CCDC178_ENST00000406524.2_Missense_Mutation_p.K740T|CCDC178_ENST00000300227.8_Missense_Mutation_p.K702T|CCDC178_ENST00000579947.1_Missense_Mutation_p.K740T coiled-coil domain containing 178 TTGAAGAGTTTTTTGTCTTAC 0.323000 13 1 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34687642 34687642 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:34687642G>A ENST00000544216.3 + 3 466 c.389G>A c.(388-390)gGg>gAg p.G130E LSM14A_ENST00000540746.2_Missense_Mutation_p.G130E|LSM14A_ENST00000433627.5_Missense_Mutation_p.G130E NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 130 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TCCTTAGTTGGGCAGCAGTTT 0.413000 31 259 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346857 48346857 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:48346857G>A ENST00000319856.4 + 1 386 c.365G>A c.(364-366)tGc>tAc p.C122Y NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TATGAGTGCTGCATGGCTCAG 0.458000 12 235 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455429 29455429 + Missense_Mutation SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:29455429A>G ENST00000377127.3 - 1 309 c.251T>C c.(250-252)cTg>cCg p.L84P NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 84 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GAGGGAGACCAGCACAGCCTT 0.517000 10 136 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118703131 118703131 + Missense_Mutation SNP T T A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:118703131T>A ENST00000376300.2 - 17 1461 c.1324A>T c.(1324-1326)Acc>Tcc p.T442S CCDC93_ENST00000319432.5_Missense_Mutation_p.T441S NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 442 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GAGGTCAAGGTACCAGGCGGC 0.517000 13 69 0 0 1 0 0 CCT2 10576 broad.mit.edu 37 12 69995079 69995079 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:69995079C>G ENST00000543146.2 + 16 1923 c.1441C>G c.(1441-1443)Cgt>Ggt p.R481G CCT2_ENST00000544368.2_Missense_Mutation_p.N480K|CCT2_ENST00000299300.6_Missense_Mutation_p.R528G NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 528 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCATAGGAAACGTGTCCCTGA 0.358000 35 56 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107807411 107807411 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:107807411C>T ENST00000379028.3 - 30 3891 c.3421G>A c.(3421-3423)Gac>Aac p.D1141N NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1141N|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1141N Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1141 Fibronectin type-III 5. DSG -> GPR (in Ref. 8; CAA04507). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AAACCAGAGTCCCCCACAGCA 0.517000 3 43 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28337870 28337870 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr21:28337870G>A ENST00000284987.5 - 1 962 c.841C>T c.(841-843)Cgg>Tgg p.R281W NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 281 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCATACAACCGCGCCATGGAC 0.682000 12 17 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065333 57065333 + Silent SNP T T C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:57065333T>C ENST00000301318.3 + 8 1250 c.1179T>C c.(1177-1179)caT>caC p.H393H AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGAAAGTTCATAATCGTGATT 0.318000 12 28 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616407 116616407 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:116616407G>A ENST00000395715.3 - 4 2366 c.1789C>T c.(1789-1791)Ccg>Tcg p.P597S TRPS1_ENST00000520276.1_Missense_Mutation_p.P588S|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584S|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584S|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 584 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAAGCAAACGGATAAGTAATT 0.468000 Langer-Giedion syndrome 15 10 0 0 1 0 0 DHRSX 207063 broad.mit.edu 37 X 2343291 2343291 + Missense_Mutation SNP A A C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:2343291A>C ENST00000334651.5 - 2 216 c.164T>G c.(163-165)aTt>aGt p.I55S NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 55 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGAATAGCCAATGCCATCTGT 0.418000 29 221 0 0 1 0 0 HSD17B14 51171 broad.mit.edu 37 19 49339644 49339644 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:49339644C>A ENST00000263278.4 - 1 291 c.25G>T c.(25-27)Ggg>Tgg p.G9W HSD17B14_ENST00000599157.1_Missense_Mutation_p.G9W NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 9 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) ACCACCTTCCCGGCATAGCGC 0.662000 OREG0025610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 79 1 1 1 1 0 DHX30 22907 broad.mit.edu 37 3 47887313 47887313 + Missense_Mutation SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr3:47887313C>G ENST00000446256.2 + 11 1518 c.946C>G c.(946-948)Ctc>Gtc p.L316V DHX30_ENST00000348968.4_Missense_Mutation_p.L327V|DHX30_ENST00000457607.1_Missense_Mutation_p.L383V|DHX30_ENST00000445061.1_Missense_Mutation_p.L355V NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 355 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CGAGCCCATCCTCCGCAAGAT 0.592000 14 63 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61768563 61768563 + Silent SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:61768563C>T ENST00000423902.2 + 33 7445 c.6966C>T c.(6964-6966)aaC>aaT p.N2322N CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2322 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCTTAGACAACATCTGTGAAG 0.418000 6 42 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518563 129518563 + Nonsense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chrX:129518563G>A ENST00000276218.2 - 1 948 c.859C>T c.(859-861)Cga>Tga p.R287* NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 287 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGCTGCAGTCGCACCTCCTTC 0.582000 20 35 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211369 72211369 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:72211369G>T ENST00000340726.3 - 9 1378 c.739C>A c.(739-741)Cca>Aca p.P247T EYA1_ENST00000388743.2_Missense_Mutation_p.P246T|EYA1_ENST00000388742.4_Missense_Mutation_p.P247T|EYA1_ENST00000419131.1_Missense_Mutation_p.P242T|EYA1_ENST00000388740.3_Missense_Mutation_p.P214T|EYA1_ENST00000388741.2_Missense_Mutation_p.P213T|EYA1_ENST00000303824.7_Missense_Mutation_p.P241T NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 247 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GGTGTCGTTGGGCTGGTGTTG 0.498000 18 338 1.80694e-10 1.97397e-10 1 1 0 TCF19 6941 broad.mit.edu 37 6 31129289 31129289 + Silent SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:31129289C>T ENST00000376257.3 + 3 1058 c.304C>T c.(304-306)Ctg>Ttg p.L102L TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Silent_p.L102L NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 102 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TGGAGACCTCCTGACCTTTGG 0.532000 61 169 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846459 47846459 + Silent SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:47846459G>A ENST00000339488.4 - 3 2154 c.2121C>T c.(2119-2121)aaC>aaT p.N707N NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 707 integral to membrane hedgehog receptor activity CCATGTCGACGTTCCATAATG 0.438000 3 14 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130842043 130842043 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:130842043G>A ENST00000245255.3 + 14 1882 c.1610G>A c.(1609-1611)aGa>aAa p.R537K NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 537 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding p.R537K(1) breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GTGGATGACAGAACTGAAGCC 0.423000 3 65 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116426706 116426706 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:116426706C>T ENST00000395715.3 - 7 4007 c.3430G>A c.(3430-3432)Gtg>Atg p.V1144M TRPS1_ENST00000520276.1_Missense_Mutation_p.V1135M|TRPS1_ENST00000220888.5_Missense_Mutation_p.V1131M|TRPS1_ENST00000519076.1_Missense_Mutation_p.V885M NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 1131 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGCCAGGCACGTGACTCAAG 0.468000 Langer-Giedion syndrome 4 15 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45214564 45214564 + Missense_Mutation SNP A A T rs78525224 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr17:45214564A>T ENST00000066544.3 - 14 1960 c.1867T>A c.(1867-1869)Tgt>Agt p.C623S CDC27_ENST00000446365.2_Missense_Mutation_p.C562S|CDC27_ENST00000531206.1_Missense_Mutation_p.C629S|CDC27_ENST00000527547.1_Missense_Mutation_p.C622S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 623 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTTCGAAAACAAGCTAATGCT 0.378000 3 42 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86025203 86025203 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:86025203G>A ENST00000414626.2 + 3 1242 c.353G>A c.(352-354)aGa>aAa p.R118K LRRCC1_ENST00000360375.3_Missense_Mutation_p.R138K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 138 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CATAAACTTAGATATATTGAT 0.328000 35 172 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211333 72211333 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:72211333G>C ENST00000340726.3 - 9 1414 c.775C>G c.(775-777)Caa>Gaa p.Q259E EYA1_ENST00000388743.2_Missense_Mutation_p.Q258E|EYA1_ENST00000388742.4_Missense_Mutation_p.Q259E|EYA1_ENST00000419131.1_Missense_Mutation_p.Q254E|EYA1_ENST00000388740.3_Missense_Mutation_p.Q226E|EYA1_ENST00000388741.2_Missense_Mutation_p.Q225E|EYA1_ENST00000303824.7_Missense_Mutation_p.Q253E NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 259 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GGCGGTTCTTGAAGCTGGTAA 0.458000 11 324 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30741037 30741037 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr22:30741037C>T ENST00000439242.1 - 4 472 c.341G>A c.(340-342)cGc>cAc p.R114H SF3A1_ENST00000215793.7_Missense_Mutation_p.R179H NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 CAGAAACTGGCGCCCATTCCT 0.532000 58 88 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105600946 105600946 + Missense_Mutation SNP G G A rs143266379 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:105600946G>A ENST00000258530.3 - 8 739 c.514C>T c.(514-516)Cgg>Tgg p.R172W APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.R178W|APPL2_ENST00000539978.2_Missense_Mutation_p.R129W NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 172 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGCTGCTTCCGCCGGGCCGCG 0.517000 3 75 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915076 176915076 + Silent SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:176915076C>G ENST00000367654.2 - 13 2272 c.2259G>C c.(2257-2259)ctG>ctC p.L753L ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L745L|ASTN1_ENST00000424564.2_Silent_p.L745L|ASTN1_ENST00000367657.3_Silent_p.L745L O14525 ASTN1_HUMAN astrotactin 1 753 cell migration|neuron cell-cell adhesion integral to membrane p.Q743fs*11(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATGTTCCTTTCAGCACCTGTC 0.448000 26 448 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24208786 24208786 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:24208786G>A ENST00000265769.4 + 20 2251 c.2141G>A c.(2140-2142)aGg>aAg p.R714K RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.E462E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 714 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAACAGAAGAGGAAACCCCAG 0.478000 26 68 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60582692 60582692 + Splice_Site SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr20:60582692C>A ENST00000252996.3 - 6 1884 c.1884_splice c.e6-1 p.D629_splice NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 629 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) ATTTTTCCATCCTTAAAAATA 0.393000 4 100 0.150653 0.151821 1 1 0 GIMAP7 168537 broad.mit.edu 37 7 150217476 150217476 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:150217476G>T ENST00000313543.4 + 2 571 c.414G>T c.(412-414)gaG>gaT p.E138D NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 138 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAGTTGGAGGGCCAGAGCT 0.512000 16 53 5.35267e-07 5.7508e-07 1 1 0 C4orf19 55286 broad.mit.edu 37 4 37591786 37591786 + Missense_Mutation SNP G G A rs111504567 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr4:37591786G>A ENST00000284437.6 + 3 287 c.109G>A c.(109-111)Gac>Aac p.D37N C4orf19_ENST00000381980.4_Missense_Mutation_p.D37N|C4orf19_ENST00000508175.1_Intron NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 37 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 AGATGAAGACGACACTGATAA 0.458000 64 250 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86025211 86025211 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:86025211G>T ENST00000414626.2 + 3 1250 c.361G>T c.(361-363)Gat>Tat p.D121Y LRRCC1_ENST00000360375.3_Missense_Mutation_p.D141Y Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 141 I -> V (in Ref. 5; AAH30701). cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 TAGATATATTGATCTACATAG 0.348000 40 177 6.1244e-12 6.80489e-12 1 1 0 KBTBD2 25948 broad.mit.edu 37 7 32909536 32909536 + Silent SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:32909536A>G ENST00000304056.4 - 4 1992 c.1293T>C c.(1291-1293)atT>atC p.I431I AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 431 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TCATCACATAAATGCAGTCAT 0.458000 20 102 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211356 72211356 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:72211356G>A ENST00000340726.3 - 9 1391 c.752C>T c.(751-753)tCc>tTc p.S251F EYA1_ENST00000388743.2_Missense_Mutation_p.S250F|EYA1_ENST00000388742.4_Missense_Mutation_p.S251F|EYA1_ENST00000419131.1_Missense_Mutation_p.S246F|EYA1_ENST00000388740.3_Missense_Mutation_p.S218F|EYA1_ENST00000388741.2_Missense_Mutation_p.S217F|EYA1_ENST00000303824.7_Missense_Mutation_p.S245F NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 251 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.S251F(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GGCATTGGTGGATGGTGTCGT 0.478000 11 338 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231094024 231094024 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:231094024C>T ENST00000366661.4 - 3 395 c.388G>A c.(388-390)Gaa>Aaa p.E130K TTC13_ENST00000366662.4_Missense_Mutation_p.E130K|TTC13_ENST00000414259.1_Missense_Mutation_p.E130K NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 130 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTCTTCTGTTCTGCAATAGAC 0.333000 3 48 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161512967 161512967 + Silent SNP T T A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:161512967T>A ENST00000367969.3 - 5 891 c.708A>T c.(706-708)tcA>tcT p.S236S FCGR3A_ENST00000443193.1_Silent_p.S235S|FCGR3A_ENST00000436743.1_Silent_p.S200S|FCGR3A_ENST00000540048.1_Silent_p.S200S NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 200 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAAAGAATGATGAGATGGTTG 0.423000 8 381 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243471466 243471466 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:243471466G>C ENST00000366541.3 + 8 1034 c.916G>C c.(916-918)Gaa>Caa p.E306Q SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E263Q|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.E306Q|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E161Q NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 306 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GCAGACCATCGAAAGACTGGT 0.423000 58 154 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61938923 61938923 + Missense_Mutation SNP G G T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr20:61938923G>T ENST00000422202.1 + 5 667 c.599G>T c.(598-600)aGt>aTt p.S200I COL20A1_ENST00000326996.6_Missense_Mutation_p.S193I|COL20A1_ENST00000358894.6_Missense_Mutation_p.S193I|COL20A1_ENST00000435874.1_Missense_Mutation_p.S200I Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 193 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) ATTGGCCACAGTCACTTCCAG 0.667000 22 83 4.16121e-05 4.36256e-05 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136474 40136474 + Missense_Mutation SNP C C T rs138717868 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:40136474C>T ENST00000278198.2 - 2 3332 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I LRRC4C_ENST00000527150.1_Missense_Mutation_p.V457I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V457I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V457I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 457 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCTACTGTGACGGTTGAAAAG 0.493000 29 51 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474054 145474054 + Silent SNP C C G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:145474054C>G ENST00000323397.4 + 4 2019 c.726C>G c.(724-726)ctC>ctG p.L242L NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 242 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAAAACCACTCAAAAGGCTCA 0.607000 98 270 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67578658 67578658 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr16:67578658C>T ENST00000540839.3 + 17 3071 c.2851C>T c.(2851-2853)Cgg>Tgg p.R951W FAM65A_ENST00000379312.3_Missense_Mutation_p.R936W|FAM65A_ENST00000428437.2_Missense_Mutation_p.R946W|FAM65A_ENST00000422602.2_Missense_Mutation_p.R952W|FAM65A_ENST00000042381.4_Missense_Mutation_p.R932W Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 936 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GCGGCTGCTGCGGGAAGCCCG 0.657000 18 132 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931649 144931649 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:144931649G>C ENST00000529945.1 - 1 499 c.60C>G c.(58-60)atC>atG p.I20M PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I20M|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCGTGTGGAAGATCCAGCGCC 0.607000 T PDGFRB MPD 4 120 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41801438 41801438 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:41801438G>C ENST00000396930.3 - 14 2599 c.2056C>G c.(2056-2058)Ctg>Gtg p.L686V KAT6A_ENST00000406337.1_Missense_Mutation_p.L686V|KAT6A_ENST00000265713.2_Missense_Mutation_p.L686V|KAT6A_ENST00000485568.1_Missense_Mutation_p.L686V NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 686 Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AGACGACCCAGATCAGATAAC 0.393000 16 59 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 121 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89298451 89298451 + Missense_Mutation SNP G G A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr1:89298451G>A ENST00000370521.3 + 20 2946 c.2587G>A c.(2587-2589)Gag>Aag p.E863K PKN2_ENST00000370513.5_Missense_Mutation_p.E815K|PKN2_ENST00000370505.3_Missense_Mutation_p.E706K|PKN2_ENST00000544045.1_Missense_Mutation_p.E537K NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 863 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TGATGATGAAGAGGAAGTTTT 0.338000 24 66 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113664682 113664682 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr12:113664682G>C ENST00000550785.1 + 3 410 c.241G>C c.(241-243)Gtg>Ctg p.V81L TPCN1_ENST00000541517.1_Missense_Mutation_p.V81L|TPCN1_ENST00000335509.6_Missense_Mutation_p.V9L NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 9 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGATGACGACGTGCCGCTCAT 0.542000 13 76 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102818680 102818680 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:102818680G>C ENST00000260302.3 - 8 1179 c.1151C>G c.(1150-1152)gCa>gGa p.A384G MMP13_ENST00000340273.4_Missense_Mutation_p.A384G NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 384 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGAACAGCTGCACTTATCTT 0.433000 9 112 0 0 1 0 0 MAD2L1BP 9587 broad.mit.edu 37 6 43608100 43608100 + Missense_Mutation SNP C C A TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:43608100C>A ENST00000451025.2 + 4 961 c.751C>A c.(751-753)Cgc>Agc p.R251S MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.R219S NM_001003690.1 NP_001003690.1 Q15013 MD2BP_HUMAN MAD2L1 binding protein 219 mitotic cell cycle checkpoint|regulation of exit from mitosis cytoplasm|nucleus|spindle protein binding breast(1)|large_intestine(1)|lung(3) 5 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) ACAGGGACACCGCAACTGTGG 0.557000 8 108 0.000673444 0.000694823 1 1 0 TENM4 26011 broad.mit.edu 37 11 78381398 78381398 + Missense_Mutation SNP G G C TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:78381398G>C ENST00000278550.7 - 32 6454 c.5992C>G c.(5992-5994)Ctc>Gtc p.L1998V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GTGTGAAGGAGGTGCCCATCC 0.537000 6 65 0 0 1 0 0 AC012363.13 0 broad.mit.edu 37 2 121080891 121080893 + RNA DEL CCT CCT - rs138298647 by1000genomes TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr2:121080891_121080893delCCT ENST00000437837.1 + 0 132 CTGCCTCCCCCCTCCTCCTCCTC 0.542 3 5 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22820325 22820326 + RNA INS - - T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr4:22820325_22820326insT ENST00000508166.1 + 0 1309 GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGATAATTTTCTTTTTTTTTAA 0.401 3 5 --- --- --- --- ANKS1A 23294 broad.mit.edu 37 6 34951143 34951143 + Frame_Shift_Del DEL C C - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:34951143delC ENST00000360359.3 + 7 1091 c.953delC c.(952-954)acfs p.T318fs ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 318 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTAGATAAAACCCCCCCACCC 0.418 7 799 --- --- --- --- METTL24 728464 broad.mit.edu 37 6 110679166 110679166 + Frame_Shift_Del DEL G G - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr6:110679166delG ENST00000338882.4 - 1 309 c.310delC c.(310-312)gcfs p.R105fs METTL24_ENST00000490043.1_5'UTR NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 105 extracellular region ACCTTccggcgggggcgcccg 0.786 2 4 --- --- --- --- LOC101927609 101927609 broad.mit.edu 37 7 17338218 17338218 + RNA DEL C C - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr7:17338218delC ENST00000433005.1 - 0 298 cggggcggggccggtgagggg 0.726 2 4 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12946210 12946211 + Frame_Shift_Ins INS - - CA TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr8:12946210_12946211insCA ENST00000276297.4 - 16 4486_4487 c.4077_4078insTG c.(4075-4080)gtgcgafs p.R1360fs DLC1_ENST00000512044.2_Frame_Shift_Ins_p.R957fs|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.R923fs|DLC1_ENST00000520226.1_Frame_Shift_Ins_p.R849fs NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1360 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GGTCCTTCGCTCACCTGGAAAG 0.436 33 59 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr11:71948209delC ENST00000541756.1 + 26 3125 c.2195delC c.(2194-2196)gcfs p.A732fs INPPL1_ENST00000298229.2_Frame_Shift_Del_p.A974fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.A732fs O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 974 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.P977fs*7(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGGTGGCGGCCCCCCCACCC 0.637 7 643 --- --- --- --- MIR381HG 378881 broad.mit.edu 37 14 101513129 101513130 + RNA INS - - TGG rs60759868 by1000genomes TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr14:101513129_101513130insTGG ENST00000553692.1 + 0 28 GAAACTATCATtggtggtggtg 0.515 5 8 --- --- --- --- TECPR2 9895 broad.mit.edu 37 14 102901462 102901462 + Frame_Shift_Del DEL A A - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr14:102901462delA ENST00000359520.7 + 9 2534 c.2308delA c.(2308-2310)gtfs p.S770fs TECPR2_ENST00000558678.1_Frame_Shift_Del_p.S770fs NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 770 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CTCAGAGACGAGTGTGACAGA 0.607 30 138 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 10 15 --- --- --- --- SGSM2 9905 broad.mit.edu 37 17 2281207 2281209 + In_Frame_Del DEL CTA CTA - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr17:2281207_2281209delCTA ENST00000268989.3 + 22 3036_3038 c.2859_2861delCTA c.(2857-2862)ttc>tt p.FY953del SGSM2_ENST00000426855.2_In_Frame_Del_p.FY908del|SGSM2_ENST00000574563.1_In_Frame_Del_p.FY908del|RP1-59D14.5_ENST00000574290.1_RNA NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 908 intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) ACACCCACTTCTACTTCTGTTAT 0.522 19 140 --- --- --- --- YBX2 51087 broad.mit.edu 37 17 7193599 7193599 + Frame_Shift_Del DEL G G - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr17:7193599delG ENST00000007699.5 - 5 778 c.715delC c.(715-717)ggfs p.R239fs NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 239 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 TTGGGAGGCCGGGGGCCTCGC 0.622 7 394 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40433822 40433822 + Frame_Shift_Del DEL G G - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:40433822delG ENST00000221347.6 - 2 454 c.447delC c.(445-447)ccfs p.P149fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 149 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGAGGTGCCGGGGGGTGTGA 0.607 8 146 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8734b653-42a4-4c0c-815c-64811039c98b ecda3330-2354-4073-8a1e-d3618a495e4d g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 11 208 --- --- --- ---