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 GCG 2641 broad.mit.edu 37 2 163005678 163005678 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:163005678A>G ENST00000418842.2 - 2 265 c.11T>C c.(10-12)aTt>aCt p.I4T GCG_ENST00000375497.3_Missense_Mutation_p.I4T NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 4 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CACAAAGTAAATGCTTTTCAT 0.433000 59 114 0 0 0.000781405 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517214 140517214 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:140517214G>C ENST00000231134.5 + 1 2415 c.2198G>C c.(2197-2199)gGg>gCg p.G733A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 733 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTTTCCAGGGCATCTGGTG 0.652000 56 79 0 0 0.000781405 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519214 84519214 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:84519214A>T ENST00000395226.2 + 11 1225 c.1007A>T c.(1006-1008)cAg>cTg p.Q336L AGPAT9_ENST00000264409.4_Missense_Mutation_p.Q336L NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 336 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TATAACCCTCAGTTCGGTGAT 0.433000 16 53 0 0 0.000308642 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644856 20644856 + RNA SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:20644856T>G ENST00000428453.1 - 0 3091 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCTCGCCCTTTCGGTCTTGTC 0.448000 6 27 0 0 0.000274275 0 0 GPALPP1 55425 broad.mit.edu 37 13 45580367 45580367 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr13:45580367T>C ENST00000361121.2 + 3 287 c.252T>C c.(250-252)gaT>gaC p.D84D KIAA1704_ENST00000379151.4_Silent_p.D84D|KIAA1704_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 84 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) atgatgacgatgatgatgatg 0.338000 4 175 0 0 0.000602214 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 3 24 0 0 6.4e-05 0 0 USP35 57558 broad.mit.edu 37 11 77924730 77924730 + Silent SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:77924730C>A ENST00000529308.1 + 11 3189 c.2928C>A c.(2926-2928)atC>atA p.I976I USP35_ENST00000526425.1_Silent_p.I707I|USP35_ENST00000441408.2_Silent_p.I562I|USP35_ENST00000530267.1_Silent_p.I544I|USP35_ENST00000530535.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 976 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CGGCCTACATCTCTGCACTCC 0.577000 19 53 4.96729e-08 2.80461e-07 0.00121646 1 0 RBM6 10180 broad.mit.edu 37 3 50095370 50095370 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:50095370A>T ENST00000443081.1 + 9 2426 c.1507A>T c.(1507-1509)Act>Tct p.T503S RBM6_ENST00000442092.1_Missense_Mutation_p.T113S|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.T635S|RBM6_ENST00000422955.1_Missense_Mutation_p.T113S|RBM6_ENST00000539992.1_5'UTR P78332 RBM6_HUMAN RNA binding motif protein 6 635 RRM. RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAAGGGCCAACTTTCCGAAG 0.517000 6 10 0 0 0.00198382 0 0 AXDND1 126859 broad.mit.edu 37 1 179401427 179401427 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:179401427A>C ENST00000367618.3 + 15 1900 c.1513A>C c.(1513-1515)Aag>Cag p.K505Q AXDND1_ENST00000457238.2_Missense_Mutation_p.K505Q|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 505 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATCCCCTAATAAGGGAAATAT 0.308000 4 11 0 0 0.000602214 0 0 FOXP1 27086 broad.mit.edu 37 3 71026794 71026794 + Splice_Site SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:71026794C>G ENST00000318789.4 - 16 1953 c.1428_splice c.e16+1 p.Q476_splice FOXP1_ENST00000475937.1_Splice_Site_p.Q476_splice|FOXP1_ENST00000484350.1_Splice_Site_p.Q400_splice|FOXP1_ENST00000498215.1_Splice_Site_p.Q476_splice|FOXP1_ENST00000491238.1_Splice_Site_p.Q478_splice|FOXP1_ENST00000493089.1_Splice_Site_p.Q475_splice|FOXP1_ENST00000468577.1_Splice_Site_p.Q476_splice NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 476 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATTTACTTACCTGCCTAATTA 0.323000 T PAX5 ALL 10 48 0 0 0.000978159 0 0 TRBV6-6 28601 broad.mit.edu 37 7 142161982 142161982 + RNA SNP T T A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:142161982T>A ENST00000390371.3 - 0 336 AGCAGCCAACTCCAGCCTGAG 0.502000 56 226 0 0 0.000781405 0 0 SLC36A4 120103 broad.mit.edu 37 11 92901243 92901243 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:92901243T>C ENST00000326402.4 - 7 765 c.635A>G c.(634-636)tAt>tGt p.Y212C SLC36A4_ENST00000529184.1_Missense_Mutation_p.Y77C NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 212 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCAAAGCATATATATCCTTAG 0.353000 19 47 0 0 0.000958276 0 0 BRCA1 672 broad.mit.edu 37 17 41256883 41256883 + Splice_Site SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:41256883A>C ENST00000309486.4 - 4 441 c.e4+1 BRCA1_ENST00000468300.1_Splice_Site|BRCA1_ENST00000493795.1_Splice_Site|BRCA1_ENST00000357654.3_Splice_Site|BRCA1_ENST00000354071.3_Splice_Site|BRCA1_ENST00000351666.3_Splice_Site|BRCA1_ENST00000346315.3_Splice_Site|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Splice_Site|BRCA1_ENST00000471181.2_Splice_Site|BRCA1_ENST00000352993.3_Splice_Site NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTCAACACTTACACTCCAAAC 0.373000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 28 47 0 0 0.00178596 0 0 FRMD3 257019 broad.mit.edu 37 9 85863354 85863354 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr9:85863354C>G ENST00000304195.3 - 14 1479 c.1273G>C c.(1273-1275)Gaa>Caa p.E425Q FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.E82Q|FRMD3_ENST00000376438.1_Missense_Mutation_p.E425Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.E231Q NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 425 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GGGGGATCTTCATACTCCCGG 0.468000 12 37 0 0 0.000978159 0 0 GALNT8 26290 broad.mit.edu 37 12 4854675 4854675 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:4854675C>T ENST00000252318.2 + 5 1278 c.941C>T c.(940-942)aCc>aTc p.T314I NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 314 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CGTTTTGACACCTTCAAACTG 0.488000 23 69 0 0 0.00047179 0 0 NTRK3 4916 broad.mit.edu 37 15 88678559 88678559 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:88678559C>A ENST00000394480.1 - 10 1298 c.977G>T c.(976-978)cGt>cTt p.R326L NTRK3_ENST00000355254.2_Missense_Mutation_p.R326L|NTRK3_ENST00000557856.1_Missense_Mutation_p.R326L|NTRK3_ENST00000357724.2_Missense_Mutation_p.R326L|NTRK3_ENST00000542733.2_Missense_Mutation_p.R228L|NTRK3_ENST00000317501.3_Missense_Mutation_p.R326L|NTRK3_ENST00000360948.2_Missense_Mutation_p.R326L|NTRK3_ENST00000540489.2_Missense_Mutation_p.R326L|NTRK3_ENST00000558676.1_Missense_Mutation_p.R326L NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 326 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGGTTGCCACGCACCACAAA 0.592000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 22 38 5.26018e-13 3.139e-12 0.00188189 1 0 ZNF556 80032 broad.mit.edu 37 19 2877900 2877900 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:2877900A>G ENST00000586426.1 + 4 1028 c.941A>G c.(940-942)tAt>tGt p.Y314C ZNF556_ENST00000307635.2_Missense_Mutation_p.Y315C Q9HAH1 ZN556_HUMAN zinc finger protein 556 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) GAGAAACCCTATAAGTGTGGA 0.527000 6 36 0 0 0.00198382 0 0 UBTF 7343 broad.mit.edu 37 17 42284865 42284865 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:42284865G>A ENST00000302904.4 - 20 2618 c.2126C>T c.(2125-2127)tCc>tTc p.S709F UBTF_ENST00000526094.1_Missense_Mutation_p.S672F|UBTF_ENST00000436088.1_Missense_Mutation_p.S709F|UBTF_ENST00000393606.3_Missense_Mutation_p.S672F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.S709F|UBTF_ENST00000533177.1_Missense_Mutation_p.S672F|UBTF_ENST00000527034.1_Missense_Mutation_p.P671S|UBTF_ENST00000343638.5_Missense_Mutation_p.S672F P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 709 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGACTCAGAGGAGTCGCCGCC 0.607000 17 27 0 0 0.000958276 0 0 TTYH2 94015 broad.mit.edu 37 17 72246094 72246094 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:72246094G>A ENST00000269346.4 + 9 1024 c.950G>A c.(949-951)cGc>cAc p.R317H TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000441391.2_5'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.R296H NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 317 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 ACCTTCCAGCGCGCACTTACC 0.642000 21 83 0 0 0.00047179 0 0 RGS7 6000 broad.mit.edu 37 1 240939491 240939491 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:240939491C>T ENST00000366565.1 - 18 1817 c.1436G>A c.(1435-1437)aGg>aAg p.R479K RGS7_ENST00000366562.4_Missense_Mutation_p.R461K|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.R461K|RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000446183.2_3'UTR NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 0 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCTTGTTAACCTCTTGGACGT 0.403000 4 55 0 0 0.00024832 0 0 FXR2 9513 broad.mit.edu 37 17 7497597 7497597 + Nonsense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:7497597G>A ENST00000250113.7 - 10 1313 c.979C>T c.(979-981)Cga>Tga p.R327* NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 327 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CCTTCCACTCGAACCCTCACC 0.468000 6 24 0 0 0.000157383 0 0 TRHR 7201 broad.mit.edu 37 8 110131311 110131311 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:110131311T>G ENST00000518632.1 + 3 1175 c.824T>G c.(823-825)tTt>tGt p.F275C TRHR_ENST00000311762.2_Missense_Mutation_p.F275C P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 275 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GTAATTCTGTTTGCCCTTTTA 0.408000 38 375 0 0 0.00170553 0 0 RP1 6101 broad.mit.edu 37 8 55539875 55539875 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:55539875T>C ENST00000220676.1 + 4 3581 c.3433T>C c.(3433-3435)Ttc>Ctc p.F1145L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1145 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) TATGAATAGCTTCTGTCAAGT 0.408000 4 84 0 0 0.00024832 0 0 PRB2 653247 broad.mit.edu 37 12 11546653 11546653 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:11546653C>A ENST00000389362.4 - 3 394 c.359G>T c.(358-360)gGa>gTa p.G120V PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGCTT 0.597000 32 713 6.90743e-12 4.05604e-11 0.000692331 1 0 MRPS35 60488 broad.mit.edu 37 12 27888432 27888432 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:27888432A>C ENST00000081029.3 + 6 646 c.575A>C c.(574-576)aAa>aCa p.K192T MRPS35_ENST00000538315.1_Intron NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 192 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) AAATTAATTAAACTTGTAGGA 0.323000 22 54 0 0 0.000720815 0 0 ARPC2 10109 broad.mit.edu 37 2 219099116 219099116 + Silent SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:219099116A>G ENST00000295685.10 + 4 525 c.264A>G c.(262-264)gaA>gaG p.E88E ARPC2_ENST00000315717.5_Silent_p.E88E NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 88 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TAAATCCAGAATCAGGTATGT 0.328000 19 45 0 0 0.00188189 0 0 TNIP3 79931 broad.mit.edu 37 4 122063056 122063056 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:122063056G>T ENST00000454328.1 - 11 1027 c.800C>A c.(799-801)cCc>cAc p.P267H TNIP3_ENST00000509841.1_Missense_Mutation_p.P344H|TNIP3_ENST00000507879.1_Missense_Mutation_p.P337H|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.P267H Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 267 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GCAGTTACAGGGTGGGCAATA 0.507000 7 40 7.48243e-07 4.1294e-06 0.000442599 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147040903 147040903 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:147040903C>T ENST00000265272.5 - 3 702 c.235G>A c.(235-237)Gag>Aag p.E79K JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E79K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E37K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 79 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTTCTCCTCATGGAGCTTG 0.517000 64 65 0 0 0.000781405 0 0 CTNNA2 1496 broad.mit.edu 37 2 80782950 80782950 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:80782950T>C ENST00000466387.1 + 16 2397 c.1673T>C c.(1672-1674)aTg>aCg p.M558T CTNNA2_ENST00000541047.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M558T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M592T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M237T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M558T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M558T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 558 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AATGCTGAGATGGAGAACTAT 0.512000 10 79 0 0 0.000673444 0 0 CDH26 60437 broad.mit.edu 37 20 58560126 58560126 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr20:58560126C>T ENST00000348616.4 + 7 1079 c.779C>T c.(778-780)aCc>aTc p.T260I CDH26_ENST00000244047.5_Missense_Mutation_p.T260I NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 260 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TCCACGACCACCGTTCACGTG 0.547000 8 42 0 0 0.000157383 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692110 54692110 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:54692110G>T ENST00000245615.1 - 3 647 c.167C>A c.(166-168)aCc>aAc p.T56N MBOAT7_ENST00000391754.1_Missense_Mutation_p.T56N|MBOAT7_ENST00000431666.2_Missense_Mutation_p.H25Q|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.H25Q NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 56 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCGAGGATGGTGACCAGAGA 0.642000 21 37 8.04996e-18 4.84317e-17 0.00188189 1 0 SIM1 6492 broad.mit.edu 37 6 100838366 100838366 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:100838366G>T ENST00000369208.3 - 12 2954 c.2172C>A c.(2170-2172)agC>agA p.S724R SIM1_ENST00000262901.4_Missense_Mutation_p.S724R P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 724 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TAATGGTTTCGCTGTCATATA 0.463000 17 83 0.000566183 0.00301144 0.000566183 1 0 ZNF572 137209 broad.mit.edu 37 8 125989980 125989980 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:125989980C>T ENST00000319286.5 + 3 1624 c.1470C>T c.(1468-1470)caC>caT p.H490H NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GGAAAATTCACGTAGAAAAGC 0.473000 HNSCC(60;0.17) 18 183 0 0 0.00074312 0 0 OR51A4 401666 broad.mit.edu 37 11 4967421 4967421 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:4967421C>T ENST00000380373.2 - 1 935 c.910G>A c.(910-912)Gtt>Att p.V304I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTGCTACAACTCTCACTCTA 0.353000 28 254 0 0 0.00106085 0 0 NAV2 89797 broad.mit.edu 37 11 19735323 19735323 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:19735323C>T ENST00000396085.1 + 1 443 c.82C>T c.(82-84)Ccc>Tcc p.P28S NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.P28S|NAV2_ENST00000396087.3_Missense_Mutation_p.P28S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 28 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCTGCACGTgcccccggcccg 0.662000 7 25 0 0 0.00198382 0 0 DGKD 8527 broad.mit.edu 37 2 234346041 234346041 + Nonsense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:234346041G>T ENST00000264057.2 + 8 850 c.838G>T c.(838-840)Gaa>Taa p.E280* DGKD_ENST00000409813.3_Nonsense_Mutation_p.E236* NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 280 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ATCGTGTAAAGAATCCTTGCT 0.542000 11 22 0.000978159 0.00512835 0.000978159 1 0 PHF3 23469 broad.mit.edu 37 6 64422440 64422440 + Silent SNP T T A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:64422440T>A ENST00000262043.3 + 16 5296 c.4956T>A c.(4954-4956)ccT>ccA p.P1652P PHF3_ENST00000393387.1_Silent_p.P1652P Q92576 PHF3_HUMAN PHD finger protein 3 1652 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAGGGATCCTAGGCAAGCAG 0.453000 10 27 0 0 0.000673444 0 0 SPI1 6688 broad.mit.edu 37 11 47381575 47381575 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:47381575G>C ENST00000378538.3 - 3 381 c.159C>G c.(157-159)ttC>ttG p.F53L SPI1_ENST00000227163.4_Missense_Mutation_p.F54L|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.F53L NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 53 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GGTGGGGGTGGAAGTCCCAGT 0.582000 6 6 0 0 0.00198382 0 0 LPPR4 9890 broad.mit.edu 37 1 99771647 99771647 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:99771647G>A ENST00000370185.3 + 7 1870 c.1373G>A c.(1372-1374)cGa>cAa p.R458Q LPPR4_ENST00000457765.1_Missense_Mutation_p.R400Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.R300Q NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 458 phosphatidate phosphatase activity p.R458Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AATGAAAGTCGAAAGTTGTCC 0.493000 27 67 0 0 0.000878237 0 0 LDLRAD4 753 broad.mit.edu 37 18 13621135 13621135 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr18:13621135A>C ENST00000361205.4 + 5 869 c.201A>C c.(199-201)caA>caC p.Q67H LDLRAD4_ENST00000586765.1_Missense_Mutation_p.Q30H|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.Q67H|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.Q67H|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.Q30H|LDLRAD4_ENST00000585931.1_5'UTR NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 AGTTCGCCCAAATCATCATCA 0.602000 47 95 0 0 0.000781405 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 54 0 0 0.000602214 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973844 29973844 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chrX:29973844G>A ENST00000378993.1 + 11 2671 c.1998G>A c.(1996-1998)tcG>tcA p.S666S IL1RAPL1_ENST00000302196.4_Silent_p.S666S NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 666 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 AGACAAAATCGAGCAGGGAGC 0.527000 7 7 0 0 0.00198382 0 0 CSMD3 114788 broad.mit.edu 37 8 113842012 113842012 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:113842012G>T ENST00000297405.5 - 12 2006 c.1762C>A c.(1762-1764)Cag>Aag p.Q588K CSMD3_ENST00000455883.2_Missense_Mutation_p.Q484K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q548K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q588K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 588 CUB 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAATTTATCTGGATAACCTAG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 29 0.000602214 0.00318004 0.000602214 1 0 NCOR2 9612 broad.mit.edu 37 12 124979778 124979778 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:124979778G>A ENST00000356219.3 - 2 175 c.20C>T c.(19-21)cCt>cTt p.P7L NCOR2_ENST00000429285.2_Missense_Mutation_p.P7L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P7L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P7L|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.P7L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 7 P -> L (in Ref. 2; AAD20946). cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTGTGCCACAGGCTGTGTGGA 0.627000 5 29 0 0 0.000602214 0 0 SF3B2 10992 broad.mit.edu 37 11 65826722 65826722 + Silent SNP C C T rs71762974 TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:65826722C>T ENST00000528302.1 + 10 1236 c.1182C>T c.(1180-1182)gaC>gaT p.D394D SF3B2_ENST00000322535.6_Silent_p.D411D Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 411 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 AGAAACTTGACAAACTGGAGA 0.532000 10 27 0 0 0.000442599 0 0 PRDM15 63977 broad.mit.edu 37 21 43279700 43279700 + Splice_Site SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr21:43279700C>A ENST00000422911.1 - 3 344 c.e3+1 PRDM15_ENST00000447207.2_Splice_Site|PRDM15_ENST00000538201.1_Splice_Site|PRDM15_ENST00000269844.3_Splice_Site|PRDM15_ENST00000398548.1_Splice_Site P57071 PRD15_HUMAN PR domain containing 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGGTCACTCACCTTGCCCTGC 0.612000 10 12 3.86212e-05 0.000208441 0.000673444 1 0 TFIP11 24144 broad.mit.edu 37 22 26902303 26902303 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:26902303G>A ENST00000407690.1 - 6 769 c.486C>T c.(484-486)taC>taT p.Y162Y TFIP11_ENST00000407431.1_Silent_p.Y162Y|TFIP11_ENST00000407148.1_Silent_p.Y162Y|TFIP11_ENST00000405938.1_Silent_p.Y162Y NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 162 G-patch. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GTCCAGGGACGTAGCCCATCT 0.527000 14 86 0 0 0.00185496 0 0 KRT4 3851 broad.mit.edu 37 12 53201426 53201426 + Splice_Site SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:53201426A>G ENST00000293774.4 - 7 1839 c.e7+1 KRT4_ENST00000458244.2_Splice_Site|KRT4_ENST00000551956.1_Splice_Site B4DRS2 B4DRS2_HUMAN keratin 4 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CTAACCCCTCACCTGTACTCC 0.582000 31 57 0 0 0.00178596 0 0 FBLN1 2192 broad.mit.edu 37 22 45944530 45944530 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:45944530C>G ENST00000348697.2 + 13 1626 c.1479C>G c.(1477-1479)atC>atG p.I493M FBLN1_ENST00000476366.1_Intron|FBLN1_ENST00000442170.2_Missense_Mutation_p.I493M|FBLN1_ENST00000340923.5_Missense_Mutation_p.I493M|FBLN1_ENST00000402984.3_Missense_Mutation_p.I531M|FBLN1_ENST00000327858.6_Missense_Mutation_p.I493M|FBLN1_ENST00000262722.7_Missense_Mutation_p.I493M P23142 FBLN1_HUMAN fibulin 1 493 EGF-like 8; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGGGCCACATCTGCTCCTACC 0.652000 13 38 0 0 0.00185496 0 0 GCNT2 2651 broad.mit.edu 37 6 10586756 10586756 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:10586756C>T ENST00000265012.4 + 1 778 c.534C>T c.(532-534)gtC>gtT p.V178V GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 178 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AAGACCTTGTCGCCTCTGAGG 0.473000 48 102 0 0 0.000781405 0 0 JRKL 8690 broad.mit.edu 37 11 96125222 96125222 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:96125222T>G ENST00000458427.1 + 1 2065 c.1409T>G c.(1408-1410)cTa>cGa p.L470R JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.L470R NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 470 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) GAAATAGAACTAATTCCAGAG 0.398000 5 22 0 0 0.00116845 0 0 TLE2 7089 broad.mit.edu 37 19 3002388 3002388 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:3002388G>C ENST00000262953.6 - 18 2272 c.2010C>G c.(2008-2010)caC>caG p.H670Q TLE2_ENST00000455444.2_Missense_Mutation_p.H548Q|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.H684Q|TLE2_ENST00000447365.2_Missense_Mutation_p.H337Q|TLE2_ENST00000443826.3_Missense_Mutation_p.H548Q|TLE2_ENST00000590536.1_Missense_Mutation_p.H671Q|TLE2_ENST00000591529.1_Missense_Mutation_p.H684Q NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 670 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) CGCAGCTCTCGTGGAGGTGCA 0.612000 7 27 0 0 0.000157383 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076479 47076479 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:47076479G>C ENST00000290341.3 + 2 518 c.184G>C c.(184-186)Gaa>Caa p.E62Q IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E62Q NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 62 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGGGAAAGTAGAATTACAAGG 0.468000 6 28 0 0 0.00198382 0 0 ACTR6 64431 broad.mit.edu 37 12 100604114 100604114 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:100604114A>T ENST00000188312.2 + 6 1322 c.557A>T c.(556-558)gAg>gTg p.E186V ACTR6_ENST00000546902.1_Missense_Mutation_p.E104V|ACTR6_ENST00000552376.1_Missense_Mutation_p.E186V|ACTR6_ENST00000551617.1_Missense_Mutation_p.E104V NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 186 cytoplasm|cytoskeleton autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 CATCTAAAGGAGATCATATCT 0.358000 33 75 0 0 0.0024448 0 0 ZNF567 163081 broad.mit.edu 37 19 37210259 37210259 + Silent SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:37210259A>G ENST00000585696.1 + 3 1770 c.540A>G c.(538-540)ggA>ggG p.G180G ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.G180G|ZNF567_ENST00000360729.4_Silent_p.G180G|ZNF567_ENST00000536254.2_Silent_p.G211G|ZNF567_ENST00000588311.1_Silent_p.G180G Q8N184 ZN567_HUMAN zinc finger protein 567 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTCATTTGGATATAATGACT 0.368000 16 29 0 0 0.000566183 0 0 EHF 26298 broad.mit.edu 37 11 34673089 34673089 + Splice_Site SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:34673089A>T ENST00000257831.3 + 5 528 c.406_splice c.e5-1 p.E136_splice EHF_ENST00000530286.1_Splice_Site_p.E136_splice|EHF_ENST00000450654.2_Splice_Site_p.E136_splice|EHF_ENST00000533754.1_Splice_Site_p.E136_splice|EHF_ENST00000531794.1_Splice_Site_p.E158_splice NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 136 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) TTTTTTGTAGAGCCTTCCATC 0.423000 20 41 0 0 0.00152264 0 0 UNC5C 8633 broad.mit.edu 37 4 96222757 96222757 + Splice_Site SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:96222757A>T ENST00000453304.1 - 3 838 c.490_splice c.e3+1 p.Y164_splice UNC5C_ENST00000506749.1_Splice_Site_p.Y164_splice|UNC5C_ENST00000504962.1_Splice_Site_p.Y164_splice NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 164 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AATGACTCACATGCAATGCGC 0.483000 13 60 0 0 0.00244969 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166514 19166514 + Missense_Mutation SNP G G A rs149445409 TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:19166514G>A ENST00000375371.3 - 6 2120 c.2099C>T c.(2098-2100)aCg>aTg p.T700M NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 700 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACTGAGGCCCGTGGCCAGCAT 0.562000 40 77 0 0 0.00128727 0 0 CDH3 1001 broad.mit.edu 37 16 68732227 68732227 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:68732227A>G ENST00000264012.4 + 16 2958 c.2414A>G c.(2413-2415)gAt>gGt p.D805G CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.D750G NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 805 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CAAGACCAAGATTACGATTAT 0.642000 34 112 0 0 0.000814825 0 0 FAT3 120114 broad.mit.edu 37 11 92085482 92085482 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:92085482G>A ENST00000298047.6 + 1 221 c.204G>A c.(202-204)atG>atA p.M68I FAT3_ENST00000409404.2_Missense_Mutation_p.M68I|FAT3_ENST00000541502.1_Missense_Mutation_p.M68I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 68 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAGTAGAATGGGCATCACCT 0.458000 TCGA Ovarian(4;0.039) 16 48 0 0 0.000566183 0 0 CCR8 1237 broad.mit.edu 37 3 39374725 39374725 + Silent SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:39374725T>G ENST00000326306.4 + 2 1041 c.903T>G c.(901-903)gcT>gcG p.A301A CCR8_ENST00000545843.1_Silent_p.A218A|CCR8_ENST00000414803.1_3'UTR NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 301 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TTATCTATGCTTTTGTTGGGG 0.423000 20 27 0 0 0.00152264 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768590 31768590 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr21:31768590G>T ENST00000355459.2 + 1 199 c.186G>T c.(184-186)gaG>gaT p.E62D NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 62 5 X 10 AA approximate repeats. intermediate filament p.E62D(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTGCTGGGAGCCCACCAGCT 0.612000 19 43 1.33834e-09 7.61503e-09 0.000958276 1 0 ROPN1L 83853 broad.mit.edu 37 5 10448390 10448390 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:10448390G>A ENST00000503804.1 + 3 671 c.150G>A c.(148-150)tcG>tcA p.S50S ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.S50S Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 50 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding p.S50S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CAGCTCTGTCGAGAGGAGATC 0.423000 24 48 0 0 0.000586117 0 0 CHERP 10523 broad.mit.edu 37 19 16638963 16638963 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:16638963G>A ENST00000546361.2 - 9 1384 c.1233C>T c.(1231-1233)caC>caT p.H411H CHERP_ENST00000198939.6_Silent_p.H422H|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 411 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GGATCTGGTCGTGTggcccgg 0.647000 27 71 0 0 0.000878237 0 0 CDC14A 8556 broad.mit.edu 37 1 100819350 100819350 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:100819350C>A ENST00000370125.2 + 2 570 c.82C>A c.(82-84)Cca>Aca p.P28T CDC14A_ENST00000370124.3_Missense_Mutation_p.P28T|CDC14A_ENST00000361544.6_Missense_Mutation_p.P28T|CDC14A_ENST00000336454.3_Missense_Mutation_p.P28T|CDC14A_ENST00000544534.1_Missense_Mutation_p.P28T|CDC14A_ENST00000542213.1_5'UTR Q9UNH5 CC14A_HUMAN cell division cycle 14A 28 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AAGGAATAGACCAAAAAGCAC 0.358000 7 23 0.000274275 0.00146947 0.000274275 1 0 SNX33 257364 broad.mit.edu 37 15 75941779 75941779 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:75941779T>G ENST00000308527.5 + 1 1533 c.336T>G c.(334-336)gaT>gaG p.D112E NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 112 Poly-Asp. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TTGAGGAGGATGATGATGATG 0.622000 3 100 0 0 6.4e-05 0 0 INPPL1 3636 broad.mit.edu 37 11 71939892 71939892 + Splice_Site SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:71939892G>A ENST00000298229.2 + 4 722 c.e4+1 INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding 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 CTGCTGAGAGGTGAGACCCCC 0.627000 21 44 0 0 0.00121646 0 0 OR52M1 119772 broad.mit.edu 37 11 4566851 4566851 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:4566851G>A ENST00000360213.1 + 1 431 c.431G>A c.(430-432)gGt>gAt p.G144D NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTGGTGGGTCGTTTGGGG 0.522000 28 60 0 0 0.00106085 0 0 FAM98B 283742 broad.mit.edu 37 15 38773633 38773633 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:38773633G>A ENST00000397609.2 + 7 905 c.870G>A c.(868-870)cgG>cgA p.R290R FAM98B_ENST00000491535.1_Silent_p.R290R NM_173611.2 NP_775882.2 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 290 tRNA-splicing ligase complex protein binding endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GCACCAGCCGGGAGAAGACCG 0.398000 11 48 0 0 0.000978159 0 0 FBN1 2200 broad.mit.edu 37 15 48784730 48784730 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:48784730T>G ENST00000316623.5 - 24 3237 c.2782A>C c.(2782-2784)Aac>Cac p.N928H NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 928 EGF-like 14; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCCCTAGTGTTAACACACAGG 0.348000 8 36 0 0 0.000442599 0 0 DISC1 27185 broad.mit.edu 37 1 231830106 231830106 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:231830106G>T ENST00000439617.2 + 2 655 c.602G>T c.(601-603)gGc>gTc p.G201V DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.G201V|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.G201V|DISC1_ENST00000539444.1_Missense_Mutation_p.G201V|DISC1_ENST00000366636.4_Missense_Mutation_p.G201V|DISC1_ENST00000317586.4_Missense_Mutation_p.G201V|DISC1_ENST00000366633.3_Missense_Mutation_p.G201V|DISC1_ENST00000537876.1_Missense_Mutation_p.G201V|TRAX_ENST00000602962.1_3'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 201 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ACCCCTCCTGGCTCTCACAGT 0.612000 9 66 7.48243e-07 4.1294e-06 0.000442599 1 0 C6orf10 10665 broad.mit.edu 37 6 32337718 32337718 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:32337718A>C ENST00000375015.4 - 2 256 c.56T>G c.(55-57)aTc>aGc p.I19S C6orf10_ENST00000447241.2_Missense_Mutation_p.I19S|C6orf10_ENST00000527965.1_Missense_Mutation_p.I19S|C6orf10_ENST00000375007.4_Missense_Mutation_p.I19S|C6orf10_ENST00000442822.2_Missense_Mutation_p.I19S|C6orf10_ENST00000533191.1_Missense_Mutation_p.I19S Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 19 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 AATAGCCAGGATGGCAAGTCC 0.403000 64 102 0 0 0.000781405 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145910 81145910 + RNA SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:81145910A>T ENST00000533478.1 - 0 4896 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGTGGACAGGAGTACCAGGAA 0.547000 11 82 0 0 0.000978159 0 0 CETN1 1068 broad.mit.edu 37 18 580762 580762 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr18:580762C>T ENST00000327228.3 + 1 396 c.354C>T c.(352-354)acC>acT p.T118T NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 118 EF-hand 3. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 ACGATGAGACCGGGAAGATCT 0.537000 23 39 0 0 0.00278032 0 0 NDNF 79625 broad.mit.edu 37 4 121958534 121958534 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:121958534G>T ENST00000379692.4 - 4 1118 c.592C>A c.(592-594)Cca>Aca p.P198T NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 198 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GTGGGGCTTGGTTTCCAGGCC 0.493000 16 115 3.32936e-07 1.86546e-06 0.00074312 1 0 CDH16 1014 broad.mit.edu 37 16 66947070 66947070 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:66947070C>T ENST00000299752.4 - 9 1211 c.1018G>A c.(1018-1020)Gac>Aac p.D340N CDH16_ENST00000565796.1_Missense_Mutation_p.D340N|CDH16_ENST00000394055.3_Missense_Mutation_p.D340N|CDH16_ENST00000570262.1_Missense_Mutation_p.D260N|CDH16_ENST00000568632.1_Missense_Mutation_p.D243N NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 340 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACTGTGGGGTCACGGGGAGGG 0.587000 33 118 0 0 0.00209593 0 0 MKS1 54903 broad.mit.edu 37 17 56291137 56291137 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:56291137T>C ENST00000393119.2 - 7 812 c.738A>G c.(736-738)aaA>aaG p.K246K MKS1_ENST00000313863.6_Silent_p.K246K|MKS1_ENST00000337050.7_Silent_p.K246K|MKS1_ENST00000546108.1_Silent_p.K43K|MKS1_ENST00000537529.2_Silent_p.K236K NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 246 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGTAGGGTCCTTTGAGGCCCG 0.473000 32 65 0 0 0.00209593 0 0 KIAA1737 85457 broad.mit.edu 37 14 77579969 77579969 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:77579969A>G ENST00000361786.2 + 4 825 c.508A>G c.(508-510)Agg>Ggg p.R170G RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 170 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) TCCAGGCAAAAGGGGCCTTTC 0.488000 3 105 0 0 6.4e-05 0 0 ZNF816 125893 broad.mit.edu 37 19 53454451 53454451 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:53454451G>C ENST00000357666.4 - 5 877 c.577C>G c.(577-579)Caa>Gaa p.Q193E ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.Q193E|ZNF321P_ENST00000391777.3_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GAAATTCTTTGGGATTCTGAA 0.378000 31 64 0 0 0.001512 0 0 OR11H12 440153 broad.mit.edu 37 14 19378056 19378056 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:19378056C>A ENST00000550708.1 + 1 535 c.463C>A c.(463-465)Ctc>Atc p.L155I NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTGGGCATCTCTGTGCCAA 0.473000 34 436 3.62531e-18 2.19915e-17 0.000814825 1 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811047 129811047 + RNA SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:129811047A>T ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA CCTGCTGGTCAGCAGCACAAG 0.642000 3 9 0 0 6.4e-05 0 0 ADGRG6 57211 broad.mit.edu 37 6 142718817 142718817 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:142718817C>G ENST00000230173.6 + 10 1968 c.1492C>G c.(1492-1494)Cag>Gag p.Q498E GPR126_ENST00000367608.2_Missense_Mutation_p.Q470E|GPR126_ENST00000367609.3_Missense_Mutation_p.Q498E|GPR126_ENST00000296932.8_Missense_Mutation_p.Q470E NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 498 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAAAATCATTCAGCAGAAGCT 0.373000 5 36 0 0 0.000602214 0 0 KCNB2 9312 broad.mit.edu 37 8 73849904 73849904 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:73849904G>C ENST00000523207.1 + 3 2902 c.2314G>C c.(2314-2316)Gag>Cag p.E772Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 772 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCTGGGCACTGAGGTTTCAGC 0.552000 23 113 0 0 0.00229938 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43692516 43692516 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr10:43692516T>C ENST00000395809.1 - 11 3762 c.1256A>G c.(1255-1257)gAg>gGg p.E419G RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E419G|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E427G Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 419 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 TGTCATGAACTCATGGATCTG 0.517000 13 56 0 0 0.00136819 0 0 PLK4 10733 broad.mit.edu 37 4 128814677 128814677 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:128814677A>G ENST00000270861.5 + 12 2606 c.2332A>G c.(2332-2334)Att>Gtt p.I778V PLK4_ENST00000513090.1_Missense_Mutation_p.I746V|PLK4_ENST00000514379.1_Missense_Mutation_p.I737V|PLK4_ENST00000507249.1_Missense_Mutation_p.I717V|PLK4_ENST00000515069.1_Missense_Mutation_p.I700V NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 778 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GGGTCATCGTATTTGTTTAGC 0.338000 11 50 0 0 0.000978159 0 0 LCP1 3936 broad.mit.edu 37 13 46716466 46716466 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr13:46716466C>T ENST00000398576.2 - 16 1851 c.1463G>A c.(1462-1464)cGc>cAc p.R488H LCP1_ENST00000323076.2_Missense_Mutation_p.R488H|LCP1_ENST00000435666.2_Missense_Mutation_p.R57H P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 488 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGTGAGAGTGCGGTTTCCTTC 0.413000 T BCL6 NHL 16 97 0 0 0.000958276 0 0 RBMS1 5937 broad.mit.edu 37 2 161138800 161138800 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:161138800T>C ENST00000392753.3 - 10 1061 c.907A>G c.(907-909)Aga>Gga p.R303G RBMS1_ENST00000348849.3_Intron|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000409289.2_Intron P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 300 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) TTGTTTTCTCTGGTTTCCTTT 0.453000 45 118 0 0 0.000781405 0 0 OR8J1 219477 broad.mit.edu 37 11 56128447 56128447 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:56128447C>T ENST00000303039.3 + 1 757 c.725C>T c.(724-726)gCt>gTt p.A242V NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TCTACCTGTGCTTCACATATG 0.348000 35 69 0 0 0.0024448 0 0 C7orf60 154743 broad.mit.edu 37 7 112462082 112462082 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:112462082T>C ENST00000297145.4 - 5 1100 c.935A>G c.(934-936)cAt>cGt p.H312R NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 312 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CAGATGCATATGTGAAAATTT 0.388000 10 32 0 0 0.000673444 0 0 APITD1 378708 broad.mit.edu 37 1 10494001 10494001 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:10494001G>A ENST00000602787.1 + 2 570 c.154G>A c.(154-156)Gag>Aag p.E52K APITD1_ENST00000462462.1_Intron|APITD1_ENST00000602296.1_Missense_Mutation_p.E52K|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.E52K|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.E52K|APITD1_ENST00000309048.3_Missense_Mutation_p.E52K|APITD1-CORT_ENST00000465026.1_Intron NM_198544.3 NP_940946.1 apoptosis-inducing, TAF9-like domain 1 kidney(1)|lung(1)|ovary(1)|stomach(1) 4 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GGCCATTTCGGAGCTGACTTT 0.522000 43 125 0 0 0.00195071 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180724 142180724 + RNA SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:142180724A>T ENST00000390368.2 - 0 200 CATGGTTCATATCCTGGGCAC 0.512000 25 373 0 0 0.00106085 0 0 OXA1L 5018 broad.mit.edu 37 14 23240279 23240279 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:23240279C>A ENST00000358043.5 + 8 1262 c.944C>A c.(943-945)tCc>tAc p.S315Y OXA1L_ENST00000285848.5_Missense_Mutation_p.S391Y|OXA1L_ENST00000604262.1_Missense_Mutation_p.S331Y|OXA1L_ENST00000412791.1_Missense_Mutation_p.S331Y Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 331 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) GTCCAAGTATCCTGTCTCCGG 0.507000 51 105 2.69953e-25 1.66509e-24 0.000781405 1 0 LRP2 4036 broad.mit.edu 37 2 170134277 170134277 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:170134277C>A ENST00000263816.3 - 13 2035 c.1750G>T c.(1750-1752)Gta>Tta p.V584L LRP2_ENST00000443831.1_Intron NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 584 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCATAAGTTACAGTTTCAATG 0.388000 25 43 4.26978e-12 2.52743e-11 0.00047179 1 0 LIFR 3977 broad.mit.edu 37 5 38493875 38493875 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:38493875A>G ENST00000263409.4 - 14 2060 c.1898T>C c.(1897-1899)aTa>aCa p.I633T LIFR_ENST00000453190.2_Missense_Mutation_p.I633T|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 633 Fibronectin type-III 5. I -> M (in dbSNP:rs2303743). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AACTTGTTCTATTTTGAGATC 0.383000 T PLAG1 salivary adenoma 20 34 0 0 0.00188189 0 0 KCNK2 3776 broad.mit.edu 37 1 215408401 215408401 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:215408401C>T ENST00000444842.2 + 7 1344 c.1194C>T c.(1192-1194)ccC>ccT p.P398P KCNK2_ENST00000391895.2_Silent_p.P394P|KCNK2_ENST00000391894.2_Silent_p.P383P NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 398 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TCTTGCCTCCCTTACTGAAGA 0.493000 17 37 0 0 0.00074312 0 0 ROBO4 54538 broad.mit.edu 37 11 124756427 124756427 + Silent SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:124756427G>T ENST00000306534.3 - 16 3212 c.2727C>A c.(2725-2727)gcC>gcA p.A909A RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.A764A NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 909 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCACTGCCAGGGCCCGGGCAA 0.602000 8 39 5.18039e-06 2.8166e-05 0.000157383 1 0 CDH8 1006 broad.mit.edu 37 16 61687669 61687669 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:61687669C>A ENST00000577390.1 - 12 3197 c.2243G>T c.(2242-2244)gGc>gTc p.G748V CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 748 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCTTCATAGCCATATATCTG 0.502000 14 45 6.72482e-11 3.91748e-10 0.000308642 1 0 MUC4 4585 broad.mit.edu 37 3 195498614 195498614 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:195498614G>A ENST00000463781.3 - 5 13610 c.13151C>T c.(13150-13152)aCa>aTa p.T4384I MUC4_ENST00000349607.4_Missense_Mutation_p.T97I|MUC4_ENST00000475231.1_Missense_Mutation_p.T4384I|MUC4_ENST00000346145.4_Missense_Mutation_p.T148I NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1141 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGAAGCCTGTTGGGAGTGG 0.557000 30 85 0 0 0.00283554 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238672160 238672160 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:238672160T>G ENST00000244815.5 + 10 1972 c.1732T>G c.(1732-1734)Tta>Gta p.L578V LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.L546V|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.L602V NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 602 DNA-binding.|Lys-rich. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GAACACAGATTTAAGTGAAAT 0.363000 5 11 0 0 0.00116845 0 0 SYNE1 23345 broad.mit.edu 37 6 152757214 152757214 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:152757214C>T ENST00000367255.5 - 33 4773 c.4172G>A c.(4171-4173)aGt>aAt p.S1391N SYNE1_ENST00000367253.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1391N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1381N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1391N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1398N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1457N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1391 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACTGCAATACTTTCTGTCCG 0.398000 HNSCC(10;0.0054) 7 47 0 0 0.000274275 0 0 FGF7 2252 broad.mit.edu 37 15 49776611 49776611 + Silent SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:49776611T>G ENST00000267843.4 + 4 1106 c.495T>G c.(493-495)gtT>gtG p.V165V FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 165 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity p.V165V(1) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AAATGTTTGTTGCCTTAAATC 0.358000 3 32 0 0 0.00024832 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8662012 8662012 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:8662012G>A ENST00000270328.4 - 7 1165 c.899C>T c.(898-900)aCt>aTt p.T300I ADAMTS10_ENST00000597188.1_Missense_Mutation_p.T300I Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 300 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GATCTCCAGAGTGGGCTGGGG 0.602000 26 65 0 0 0.000878237 0 0 ITGB3 3690 broad.mit.edu 37 17 45360736 45360736 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:45360736C>T ENST00000559488.1 + 3 198 c.182C>T c.(181-183)tCa>tTa p.S61L ITGB3_ENST00000435993.2_Missense_Mutation_p.S14L|ITGB3_ENST00000571680.1_Missense_Mutation_p.S61L|ITGB3_ENST00000560629.1_Silent_p.L49L NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 61 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CCTCTGGGCTCACCTCGCTGT 0.567000 21 38 0 0 0.00229938 0 0 NME9 347736 broad.mit.edu 37 3 138037035 138037035 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:138037035G>A ENST00000383180.2 - 6 393 c.156C>T c.(154-156)ctC>ctT p.L52L NME9_ENST00000333911.3_Silent_p.L74L|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Silent_p.L52L|NME9_ENST00000536478.1_Silent_p.L52L|NME9_ENST00000484930.1_Intron NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 74 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity TGTACTTTTCGAGGACATCAA 0.458000 46 32 0 0 0.000781405 0 0 PFKFB2 5208 broad.mit.edu 37 1 207240960 207240960 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:207240960G>A ENST00000367080.3 + 9 873 c.749G>A c.(748-750)cGc>cAc p.R250H PFKFB2_ENST00000367079.2_Missense_Mutation_p.R250H|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R217H|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R152H|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R64H NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 250 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) GTCCAGCCTCGCACCATTTAC 0.507000 50 114 0 0 0.000781405 0 0 PRB1 5542 broad.mit.edu 37 12 11506741 11506741 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:11506741C>A ENST00000500254.2 - 3 333 c.296G>T c.(295-297)gGa>gTa p.G99V PRB1_ENST00000546254.1_Missense_Mutation_p.G99V|PRB1_ENST00000545626.1_Missense_Mutation_p.G99V NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 282 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGTTT 0.607000 25 507 5.43694e-19 3.32559e-18 0.00111076 1 0 CBWD6 644019 broad.mit.edu 37 9 69238242 69238242 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr9:69238242C>T ENST00000377457.5 - 8 755 c.650G>A c.(649-651)aGa>aAa p.R217K CBWD6_ENST00000382399.4_Missense_Mutation_p.R197K|CBWD6_ENST00000377449.1_Missense_Mutation_p.R181K NM_001085457.1 NP_001078926.1 Q4V339 CBWD6_HUMAN COBW domain containing 6 217 ATP binding lung(4) 4 AAGTGTCGTTCTTAATTTCTT 0.333000 36 53 0 0 0.00111076 0 0 C3 718 broad.mit.edu 37 19 6697422 6697422 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:6697422A>G ENST00000245907.6 - 21 2821 c.2729T>C c.(2728-2730)gTg>gCg p.V910A NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 910 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTGACTTCCACTTCCTGCAG 0.567000 29 57 0 0 0.00178596 0 0 ACSL3 2181 broad.mit.edu 37 2 223773571 223773571 + Missense_Mutation SNP T T A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:223773571T>A ENST00000357430.3 + 4 612 c.81T>A c.(79-81)caT>caA p.H27Q ACSL3_ENST00000392066.3_Missense_Mutation_p.H27Q NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 27 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) ATTTTATACATTTTCTAATAT 0.289000 T ETV1 prostate 19 39 0 0 0.00074312 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864910 6864910 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:6864910A>G ENST00000307659.5 + 7 3256 c.2801A>G c.(2800-2802)tAt>tGt p.Y934C KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y934C NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 934 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 GGAGGAGTTTATGGAGAACTC 0.443000 10 37 0 0 0.000673444 0 0 LRFN1 57622 broad.mit.edu 37 19 39804929 39804929 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:39804929G>A ENST00000248668.4 - 1 1047 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 350 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCGTCCCCCCGGACCCGGGTC 0.692000 9 13 0 0 0.000274275 0 0 FKBP4 2288 broad.mit.edu 37 12 2907902 2907902 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:2907902C>A ENST00000001008.4 + 4 611 c.424C>A c.(424-426)Ctg>Atg p.L142M RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 142 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) GGGAGAAGATCTGACGGAAGA 0.483000 49 148 5.57489e-27 3.46777e-26 0.000781405 1 0 RGS2 5997 broad.mit.edu 37 1 192780144 192780144 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:192780144C>T ENST00000235382.5 + 4 339 c.308C>T c.(307-309)tCg>tTg p.S103L NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2, 24kDa 103 Necessary to inhibit protein synthesis.|RGS. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity large_intestine(3)|lung(1)|urinary_tract(1) 5 TTTTTAAAGTCGGAATTCTGT 0.398000 36 88 0 0 0.00128727 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119474 83119474 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:83119474C>G ENST00000307792.3 - 2 699 c.232G>C c.(232-234)Gta>Cta p.V78L SEMA3E_ENST00000427262.1_Missense_Mutation_p.V18L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 78 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AGGGAATATACAAGGTCCCTG 0.413000 8 45 0 0 0.000274275 0 0 KCNA1 3736 broad.mit.edu 37 12 5021157 5021157 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:5021157A>T ENST00000382545.3 + 2 1720 c.613A>T c.(613-615)Atc>Ttc p.I205F KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 205 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGTCCACCGCATCGACAACAC 0.537000 19 48 0 0 0.00074312 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917883 89917883 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:89917883C>A ENST00000548729.1 - 3 737 c.435G>T c.(433-435)tgG>tgT p.W145C POC1B-GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.W148C NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GCAAAGTCGACCAGGCTTCGT 0.398000 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 45 1.33834e-09 7.61503e-09 0.000958276 1 0 TP53 7157 broad.mit.edu 37 17 7578520 7578520 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:7578520A>T ENST00000420246.2 - 5 542 c.410T>A c.(409-411)cTg>cAg p.L137Q TP53_ENST00000413465.2_Missense_Mutation_p.L137Q|TP53_ENST00000445888.2_Missense_Mutation_p.L137Q|TP53_ENST00000359597.4_Missense_Mutation_p.L137Q|TP53_ENST00000455263.2_Missense_Mutation_p.L137Q|TP53_ENST00000269305.4_Missense_Mutation_p.L137Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 137 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L137P(3)|p.C135fs*9(3)|p.N131fs*27(2)|p.L137Q(2)|p.V73fs*9(1)|p.L137_W146del10(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.L137_A138insX(1)|p.C135_A138delCQLA(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTCTTGGCCAGTTGGCAAAA 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 21 0 0 0.00106085 0 0 ZNF546 339327 broad.mit.edu 37 19 40520758 40520758 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:40520758T>C ENST00000347077.4 + 7 1797 c.1581T>C c.(1579-1581)tgT>tgC p.C527C ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.C501C NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCTACATATGTAACGAATGTG 0.403000 23 41 0 0 0.00278032 0 0 LPAR3 23566 broad.mit.edu 37 1 85331609 85331609 + Frame_Shift_Del DEL G G - TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:85331609delG ENST00000440886.1 - 1 233 c.195delC c.(193-195)ttfs p.F65fs LPAR3_ENST00000370611.3_Frame_Shift_Del_p.F65fs|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 65 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 ACAGGTAGTAGAAGGGGAAAT 0.393 56 83 --- --- --- --- AP5M1 55745 broad.mit.edu 37 14 57741158 57741159 + Frame_Shift_Ins INS - - A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:57741158_57741159insA ENST00000261558.3 + 2 677_678 c.271_272insA c.(271-273)agafs p.R91fs AP5M1_ENST00000431972.2_Frame_Shift_Ins_p.R105fs NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 91 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GATAGGAGGTGAAGAACTCTGG 0.406 21 45 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 3 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105613864 105613864 + Splice_Site DEL T T - TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:105613864delT ENST00000331782.3 - 19 2769 c.2365_splice c.e19-1 p.N789_splice JAG2_ENST00000347004.2_Splice_Site_p.N751_splice NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 789 EGF-like 15; calcium-binding (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GTCGTTGGTATCTGGTTTGGG 0.652 12 28 --- --- --- --- MZF1 7593 broad.mit.edu 37 19 59073795 59073796 + Frame_Shift_Ins INS - - C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:59073795_59073796insC ENST00000215057.2 - 6 2408_2409 c.1848_1849insG c.(1846-1851)caggacfs p.D617fs MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Frame_Shift_Ins_p.D617fs|AC016629.8_ENST00000600726.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 617 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GTGTGTGTCCTCTGATGACGCG 0.663 9 20 --- --- --- --- SCARF2 91179 broad.mit.edu 37 22 20781751 20781752 + Frame_Shift_Ins INS - - GGACC TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:20781751_20781752insGGACC ENST00000405555.3 - 10 1696_1697 c.1626_1627insGGTCC c.(1624-1629)tcctcgfs p.S543fs SCARF2_ENST00000266214.5_Frame_Shift_Ins_p.S548fs NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 543 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GAGGCCCGAGAGGACCAGGATG 0.599 9 82 --- --- --- ---