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 NTNG1 22854 broad.mit.edu 37 1 107691217 107691217 + Translation_Start_Site SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:107691217T>C ENST00000370067.1 + 2 629 c.2T>C c.(1-3)aTg>aCg p.M1T NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370068.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T Q9Y2I2 NTNG1_HUMAN netrin G1 1 axonogenesis anchored to plasma membrane protein binding p.M1T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AATTTAGAGATGTATTTGTCA 0.378 3 106 --- --- --- --- IGKV1D-8 28904 broad.mit.edu 37 2 90260172 90260172 + RNA SNP A A G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr2:90260172A>G ENST00000471857.1 + 0 456 TCTGGGACAGATTTCACTCTC 0.478 26 170 --- --- --- --- POTEF 728378 broad.mit.edu 37 2 130832500 130832500 + Missense_Mutation SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr2:130832500T>C ENST00000357462.5 - 15 2638 c.2545A>G c.(2545-2547)Act>Gct p.T849A POTEF_ENST00000409914.2_Missense_Mutation_p.T849A A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 849 Actin-like. cell cortex ATP binding p.T849A(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ACGATGCCAGTAGTACGGCCA 0.602 20 188 --- --- --- --- IL5RA 3568 broad.mit.edu 37 3 3146666 3146666 + Translation_Start_Site SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr3:3146666C>A ENST00000446632.2 - 3 577 c.3G>T c.(1-3)atG>atT p.M1I IL5RA_ENST00000311981.8_Start_Codon_SNP_p.M1I|IL5RA_ENST00000256452.3_Start_Codon_SNP_p.M1I|IL5RA_ENST00000383846.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000445864.2_Start_Codon_SNP_p.M1I|IL5RA_ENST00000438560.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000418488.2_Start_Codon_SNP_p.M1I|IL5RA_ENST00000456302.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000430514.2_Start_Codon_SNP_p.M1I NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 1 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity p.M1I(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CCACGATGATCATATCCTACA 0.388 3 58 --- --- --- --- IFT57 55081 broad.mit.edu 37 3 107885800 107885800 + Silent SNP A A G rs143767161 TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr3:107885800A>G ENST00000264538.3 - 8 1129 c.882T>C c.(880-882)acT>acC p.T294T IFT57_ENST00000468021.1_5'UTR NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 294 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding p.T294T(1) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) CCAAAGTCCTAGTAATTTCAT 0.358 9 26 --- --- --- --- STPG2 285555 broad.mit.edu 37 4 99030364 99030364 + Silent SNP T T C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr4:99030364T>C ENST00000295268.3 - 4 569 c.480A>G c.(478-480)ccA>ccG p.P160P NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 p.P160P(1) CATACTGTCCTGGACCAGGAC 0.333 3 76 --- --- --- --- ZNF131 7690 broad.mit.edu 37 5 43139402 43139402 + Missense_Mutation SNP T T G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:43139402T>G ENST00000509634.1 + 3 818 c.362T>G c.(361-363)cTt>cGt p.L121R ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R P52739 ZN131_HUMAN zinc finger protein 131 121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L121R(1) breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 ATCAAAGCCCTTGAAGTCAGG 0.358 3 67 --- --- --- --- APBB3 10307 broad.mit.edu 37 5 139939911 139939911 + Missense_Mutation SNP T T A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:139939911T>A ENST00000357560.4 - 12 1654 c.1211A>T c.(1210-1212)cAg>cTg p.Q404L APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 404 PID 2. actin cytoskeleton|cytoplasm p.Q411L(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGGCAGCCTGCACAGCTTC 0.617 3 64 --- --- --- --- UIMC1 51720 broad.mit.edu 37 5 176396017 176396017 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr5:176396017C>A ENST00000377219.2 - 6 905 c.739G>T c.(739-741)Gtc>Ttc p.V247F UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 247 V -> C (in Ref. 3; AAG59851). double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding p.V247F(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTACCCTGGACAGCTTTGAGA 0.527 6 145 --- --- --- --- TUBB2B 347733 broad.mit.edu 37 6 3226894 3226894 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:3226894C>A ENST00000259818.7 - 2 258 c.67G>T c.(67-69)Gtc>Ttc p.V23F TUBB2B_ENST00000473006.1_5'UTR NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 23 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.V23F(1) kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) TCACTGATGACCTCCCAAAAC 0.498 15 158 --- --- --- --- PGM3 5238 broad.mit.edu 37 6 83898366 83898366 + Missense_Mutation SNP T T A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr6:83898366T>A ENST00000513973.1 - 3 472 c.356A>T c.(355-357)cAa>cTa p.Q119L PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 119 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity p.Q119L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) AAAGGCATCTTGTTGCAGATT 0.398 5 81 --- --- --- --- HGF 3082 broad.mit.edu 37 7 81346562 81346562 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:81346562C>T ENST00000222390.5 - 11 1617 c.1391G>A c.(1390-1392)tGc>tAc p.C464Y HGF_ENST00000457544.2_Missense_Mutation_p.C459Y NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 464 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.C464Y(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AGAAATAGGGCAATAATCCCA 0.383 8 72 --- --- --- --- SLC4A2 6522 broad.mit.edu 37 7 150773232 150773232 + Missense_Mutation SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr7:150773232G>A ENST00000485713.1 + 22 4644 c.3604G>A c.(3604-3606)Gtg>Atg p.V1202M RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1202 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity p.V1202M(1) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCCGCATGGTGGTGCTCAC 0.627 6 137 --- --- --- --- FFAR4 338557 broad.mit.edu 37 10 95326921 95326921 + Silent SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:95326921G>T ENST00000371483.4 + 1 500 c.444G>T c.(442-444)cgG>cgT p.R148R FFAR4_ENST00000604414.1_Silent_p.R148R|FFAR4_ENST00000371481.4_Silent_p.R148R NM_181745.3 NP_859529.2 free fatty acid receptor 4 p.R148R(1) GCGGCGTGCGGGGTCCTGGGC 0.701 4 14 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125530493 125530493 + Missense_Mutation SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr10:125530493G>T ENST00000241305.3 - 8 1195 c.1041C>A c.(1039-1041)agC>agA p.S347R CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 347 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S347R(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGCCCTGGTGGCTTTTTCCAA 0.458 45 284 --- --- --- --- OR5L2 26338 broad.mit.edu 37 11 55595260 55595260 + Missense_Mutation SNP G G T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr11:55595260G>T ENST00000378397.1 + 1 566 c.566G>T c.(565-567)tGc>tTc p.C189F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C189F(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AGTCTTGCTTGCTCTGATGTC 0.448 HNSCC(27;0.073) 54 117 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118498442 118498442 + Silent SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr11:118498442C>A ENST00000361417.2 + 7 1314 c.903C>A c.(901-903)tcC>tcA p.S301S PHLDB1_ENST00000356063.5_Silent_p.S301S NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 301 p.S301S(1) breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCCCACAGTCCCGCCCAAGTG 0.672 4 73 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 417035 417035 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:417035C>A ENST00000399788.2 - 23 3877 c.3515G>T c.(3514-3516)gGg>gTg p.G1172V KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1172 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1172V(2) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TAGCATAAACCCACTGGCTGT 0.463 T NUP98 AML 11 137 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113748079 113748079 + Missense_Mutation SNP A A C TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:113748079A>C ENST00000552014.1 - 13 1732 c.1217T>G c.(1216-1218)tTt>tGt p.F406C SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C|SLC8B1_ENST00000553238.1_5'UTR solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 406 p.F406C(1) TGTGGCAAAAAAGGTCACTGA 0.587 5 82 --- --- --- --- GOLGA3 2802 broad.mit.edu 37 12 133351742 133351742 + Silent SNP G G A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr12:133351742G>A ENST00000204726.3 - 22 4686 c.4128C>T c.(4126-4128)cgC>cgT p.R1376R GOLGA3_ENST00000450791.2_Silent_p.R1376R|GOLGA3_ENST00000456883.2_Silent_p.R1376R NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1376 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.R1376R(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGGCCGCGCCGCGGCGTAGGT 0.587 6 57 --- --- --- --- PCDH20 64881 broad.mit.edu 37 13 61985844 61985844 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr13:61985844C>A ENST00000409186.1 - 5 4493 c.2388G>T c.(2386-2388)agG>agT p.R796S PCDH20_ENST00000409204.4_Missense_Mutation_p.R796S Q8N6Y1 PCD20_HUMAN protocadherin 20 769 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TAGGGTCAATCCTGAAGGACT 0.468 4 119 --- --- --- --- GRK1 6011 broad.mit.edu 37 13 114324084 114324084 + Missense_Mutation SNP C C G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr13:114324084C>G ENST00000335678.6 + 2 1014 c.782C>G c.(781-783)gCc>gGc p.A261G NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 261 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity p.A261G(1) ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GAAACCAAAGCCGACCTCTGT 0.557 4 154 --- --- --- --- ANG 283 broad.mit.edu 37 14 21161988 21161988 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr14:21161988C>T ENST00000336811.6 + 2 865 c.265C>T c.(265-267)Cac>Tac p.H89Y ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA NM_001145.4 NP_001136.1 P03950 ANGI_HUMAN angiogenin, ribonuclease, RNase A family, 5 89 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding p.H89Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) TGGAAACCCTCACAGAGAAAA 0.507 4 65 --- --- --- --- ITPK1 3705 broad.mit.edu 37 14 93404856 93404856 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr14:93404856C>T ENST00000354313.3 - 11 1205 c.917G>A c.(916-918)tGc>tAc p.C306Y ITPK1_ENST00000267615.6_3'UTR NM_001142594.1 NP_001136066.1 Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 0 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding p.C306Y(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TTCTATAAAGCACACTTGGCA 0.527 4 44 --- --- --- --- SLC6A4 6532 broad.mit.edu 37 17 28548700 28548700 + Missense_Mutation SNP T T G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:28548700T>G ENST00000401766.2 - 2 789 c.277A>C c.(277-279)Att>Ctt p.I93L SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 93 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity p.I93L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GCATAGCCAATCACTGAGAGA 0.562 10 118 --- --- --- --- ENPP7 339221 broad.mit.edu 37 17 77710932 77710932 + Missense_Mutation SNP C C A TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr17:77710932C>A ENST00000328313.5 + 4 1340 c.1119C>A c.(1117-1119)ttC>ttA p.F373L NM_178543.3 NP_848638.3 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 373 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.F373L(5) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCCTAGCTTCAGGGCGGGCC 0.607 4 86 --- --- --- --- SBK2 646643 broad.mit.edu 37 19 56041233 56041233 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr19:56041233C>T ENST00000413299.1 - 4 951 c.914G>A c.(913-915)cGg>cAg p.R305Q SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 305 Protein kinase. ATP binding|protein serine/threonine kinase activity p.R305Q(3) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CAGCAGCCCCCGCAGAAGCGC 0.741 4 26 --- --- --- --- ZFP28 140612 broad.mit.edu 37 19 57065989 57065989 + Missense_Mutation SNP C C T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr19:57065989C>T ENST00000301318.3 + 8 1906 c.1835C>T c.(1834-1836)aCt>aTt p.T612I AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T612I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGGATTCATACTGGGGAGAAG 0.428 9 138 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30339290 30339290 + Missense_Mutation SNP T T G rs113622445 byFrequency TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr21:30339290T>G ENST00000389194.2 - 10 1666 c.1661A>C c.(1660-1662)gAt>gCt p.D554A LTN1_ENST00000361371.5_Missense_Mutation_p.D508A|LTN1_ENST00000389195.2_Missense_Mutation_p.D554A NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 508 ligase activity|zinc ion binding p.D508A(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGACTCAACATCAGCTTCTGG 0.393 10 117 --- --- --- --- TCN2 6948 broad.mit.edu 37 22 31022486 31022486 + Missense_Mutation SNP A A T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr22:31022486A>T ENST00000215838.3 + 9 1756 c.1262A>T c.(1261-1263)gAg>gTg p.E421V TCN2_ENST00000407817.3_Missense_Mutation_p.E394V|TCN2_ENST00000405742.3_Missense_Mutation_p.E417V P20062 TCO2_HUMAN transcobalamin II 421 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding p.E421V(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAACCATTGAGCTGAGGCTG 0.567 13 50 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42264696 42264696 + Missense_Mutation SNP A A T TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr22:42264696A>T ENST00000361204.4 + 3 786 c.620A>T c.(619-621)cAg>cTg p.Q207L NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 207 Gln-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding p.Q207L(1) NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CAGACAGTACAGGCCCAGCGG 0.612 14 28 --- --- --- --- TMCC2 9911 broad.mit.edu 37 1 205238670 205238670 + Frame_Shift_Del DEL A A - TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f65af285-c62e-40df-9f49-f0812e33dcfa 1d2cf02e-fd49-43d8-b55f-b3a799069f5b g.chr1:205238670delA ENST00000358024.3 + 3 1729 c.1340delA c.(1339-1341)gacfs p.D447fs TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 447 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CACCTGAAGGACCCCCTGGAA 0.642 7 104 --- --- --- ---