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 MFN2 9927 broad.mit.edu 37 1 12058937 12058937 + Splice_Site SNP T T A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr1:12058937T>A ENST00000235329.5 + 7 1030 c.e7+2 MFN2_ENST00000444836.1_Splice_Site NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding p.?(1) endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) ATGCAGACGGTAACTCCTCCT 0.577 14 120 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74507397 74507397 + Missense_Mutation SNP C C A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr1:74507397C>A ENST00000354431.4 - 7 1409 c.1218G>T c.(1216-1218)gaG>gaT p.E406D LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 406 p.E406D(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GTGCAAAAAACTCTTTCATAC 0.343 15 74 --- --- --- --- ARHGAP30 257106 broad.mit.edu 37 1 161022538 161022538 + Silent SNP T T C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr1:161022538T>C ENST00000368013.3 - 7 1034 c.714A>G c.(712-714)tcA>tcG p.S238S ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 238 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.S238S(2) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CGGGGCTGCCTGATGCCCGGG 0.607 3 63 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167262810 167262810 + Silent SNP A A T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr2:167262810A>T ENST00000409855.1 - 25 4455 c.4329T>A c.(4327-4329)atT>atA p.I1443I NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1443 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.I1443I(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TACTGTTGAAAATTGCATCAA 0.383 32 132 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602330 33602330 + Missense_Mutation SNP G G C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr3:33602330G>C ENST00000399362.4 - 28 3274 c.2921C>G c.(2920-2922)gCa>gGa p.A974G CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 976 p.A967G(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 CTGAACTTTTGCCTGAACAGA 0.338 31 177 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89391103 89391103 + Missense_Mutation SNP C C A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr3:89391103C>A ENST00000336596.2 + 5 1394 c.1169C>A c.(1168-1170)aCc>aAc p.T390N EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 390 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding p.T390N(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTTGGACTCACCAACACCACG 0.478 TSP Lung(6;0.00050) 4 71 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175897858 175897858 + Silent SNP C C T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr4:175897858C>T ENST00000359240.3 + 5 1852 c.1182C>T c.(1180-1182)atC>atT p.I394I ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 394 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.I394I(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CAAAGGACATCTTTAATGTGA 0.393 28 129 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 146017843 146017843 + Missense_Mutation SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr5:146017843G>A ENST00000394413.3 - 6 1331 c.761C>T c.(760-762)gCa>gTa p.A254V PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 254 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.A257V(1)|p.A312V(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGGCAGATGCCCGCATGTC 0.597 8 68 --- --- --- --- MOXD1 26002 broad.mit.edu 37 6 132641814 132641814 + Missense_Mutation SNP A A G TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr6:132641814A>G ENST00000367963.3 - 9 1437 c.1319T>C c.(1318-1320)aTt>aCt p.I440T MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 440 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.I440T(1)|p.I372T(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ACACTCAGTAATTAGGTTATC 0.308 6 24 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168297653 168297653 + Splice_Site SNP G G T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr6:168297653G>T ENST00000366806.2 + 10 1459 c.e10+1 MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding p.?(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTCTATCCAGGTACGTAGTCT 0.433 T MLL AL 5 22 --- --- --- --- TRGV8 6982 broad.mit.edu 37 7 38370456 38370456 + RNA SNP C C A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr7:38370456C>A ENST00000390343.2 - 0 80 AGTAAGGGACCAGACGAAGAG 0.527 3 59 --- --- --- --- GALNTL5 168391 broad.mit.edu 37 7 151664546 151664546 + Missense_Mutation SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr7:151664546G>A ENST00000392800.2 + 2 469 c.215G>A c.(214-216)aGg>aAg p.R72K GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 72 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.R72K(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) ATAGTCAAAAGGACTGATGAA 0.373 4 41 --- --- --- --- GALNTL5 168391 broad.mit.edu 37 7 151664547 151664547 + Missense_Mutation SNP G G C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr7:151664547G>C ENST00000392800.2 + 2 470 c.216G>C c.(214-216)agG>agC p.R72S GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 72 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.R72S(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TAGTCAAAAGGACTGATGAAG 0.373 4 39 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77690474 77690474 + Missense_Mutation SNP C C T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr8:77690474C>T ENST00000521891.2 + 4 3572 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1042S(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCAGTGAATCCCGAATCCTG 0.483 HNSCC(33;0.089) 25 99 --- --- --- --- SLC37A4 2542 broad.mit.edu 37 11 118900037 118900037 + Missense_Mutation SNP A A C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr11:118900037A>C ENST00000545985.1 - 3 799 c.43T>G c.(43-45)Tca>Gca p.S15A SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 15 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity p.S15A(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) AACATGGCTGAGAAGATCACA 0.517 4 24 --- --- --- --- APPL2 55198 broad.mit.edu 37 12 105571030 105571030 + Missense_Mutation SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr12:105571030G>A ENST00000258530.3 - 18 1870 c.1645C>T c.(1645-1647)Cca>Tca p.P549S APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 549 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding p.P549S(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGAGTCTGTGGATCTATCAAC 0.328 7 52 --- --- --- --- LRRC49 54839 broad.mit.edu 37 15 71329574 71329574 + Missense_Mutation SNP A A G TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr15:71329574A>G ENST00000260382.5 + 15 2020 c.1760A>G c.(1759-1761)aAc>aGc p.N587S LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 587 cytoplasm|microtubule p.N587S(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GGTATTATCAACGAAGAAAAT 0.318 4 114 --- --- --- --- IRX5 10265 broad.mit.edu 37 16 54966502 54966502 + Silent SNP A A G TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr16:54966502A>G ENST00000394636.4 + 2 679 c.342A>G c.(340-342)ccA>ccG p.P114P IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron P78411 IRX5_HUMAN iroquois homeobox 5 114 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding p.P114P(1) kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 ACGGGGACCCAGCGTACCGGA 0.657 17 81 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7690227 7690227 + Missense_Mutation SNP A A T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr17:7690227A>T ENST00000572933.1 + 42 7939 c.6479A>T c.(6478-6480)gAc>gTc p.D2160V DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2160 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D2160V(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAGAAACCCGACGAGAAGTGG 0.567 11 45 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10355525 10355525 + Silent SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr17:10355525G>A ENST00000255381.2 - 27 3581 c.3471C>T c.(3469-3471)gcC>gcT p.A1157A RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1157 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.A1157A(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGGCCCCACCGGCTTCTTCCA 0.607 34 125 --- --- --- --- CSH2 1443 broad.mit.edu 37 17 61949662 61949662 + Missense_Mutation SNP G G C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr17:61949662G>C ENST00000392886.2 - 5 629 c.478C>G c.(478-480)Cgg>Ggg p.R160G CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 160 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding p.R160G(1) endometrium(2)|large_intestine(1)|lung(3) 6 TGCCCAGTCCGGCGGCTGCCG 0.547 28 124 --- --- --- --- CSH2 1443 broad.mit.edu 37 17 61949663 61949663 + Silent SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr17:61949663G>A ENST00000392886.2 - 5 628 c.477C>T c.(475-477)cgC>cgT p.R159R CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000560142.1_Silent_p.R102R NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 159 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding p.R159R(1) endometrium(2)|large_intestine(1)|lung(3) 6 GCCCAGTCCGGCGGCTGCCGT 0.547 27 119 --- --- --- --- DSG2 1829 broad.mit.edu 37 18 29099853 29099853 + Missense_Mutation SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr18:29099853G>A ENST00000261590.8 + 3 378 c.169G>A c.(169-171)Gct>Act p.A57T DSG2_ENST00000585206.1_Missense_Mutation_p.A57T NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 57 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.A57T(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CGCCCCCGTGGCTCTTCGGGA 0.453 15 70 --- --- --- --- SIGLEC9 27180 broad.mit.edu 37 19 51630484 51630484 + Missense_Mutation SNP G G C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr19:51630484G>C ENST00000440804.3 + 4 1013 c.946G>C c.(946-948)Gct>Cct p.A316P SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 316 Ig-like C2-type 2. A -> D (in dbSNP:rs273688). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding p.A316P(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GAGGGATGCAGCTGAATTCAC 0.632 8 45 --- --- --- --- PRKCG 5582 broad.mit.edu 37 19 54387493 54387493 + Missense_Mutation SNP C C T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr19:54387493C>T ENST00000263431.3 + 3 563 c.281C>T c.(280-282)aCg>aTg p.T94M PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 94 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGCCCCCAGACGGACGTGAGT 0.577 14 67 --- --- --- --- ZNF749 388567 broad.mit.edu 37 19 57956721 57956721 + Missense_Mutation SNP A A C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr19:57956721A>C ENST00000334181.4 + 3 2455 c.2205A>C c.(2203-2205)aaA>aaC p.K735N AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 735 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K735N(1)|p.K648N(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) ACTTCAACAAATGTAATACTG 0.398 18 89 --- --- --- --- TUBB1 81027 broad.mit.edu 37 20 57598857 57598857 + Missense_Mutation SNP G G C TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr20:57598857G>C ENST00000217133.1 + 4 644 c.375G>C c.(373-375)gaG>gaC p.E125D NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 125 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity p.E125D(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) ACGAGAGTGAGAGCTGTGACT 0.602 19 108 --- --- --- --- PACSIN2 11252 broad.mit.edu 37 22 43267420 43267420 + Silent SNP G G A TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr22:43267420G>A ENST00000263246.3 - 11 1605 c.1404C>T c.(1402-1404)cgC>cgT p.R468R PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 468 SH3. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity p.R468R(1) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) CGTTGTCCAAGCGTCCCTTGC 0.622 10 45 --- --- --- --- DMD 1756 broad.mit.edu 37 X 32536160 32536160 + Missense_Mutation SNP C C T TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chrX:32536160C>T ENST00000357033.4 - 18 2463 c.2257G>A c.(2257-2259)Gaa>Aaa p.E753K DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 753 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E749K(2)|p.E748K(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAGTTGCCTTCCTTCCGAAAG 0.383 12 18 --- --- --- --- GALNT13 114805 broad.mit.edu 37 2 155099377 155099377 + Frame_Shift_Del DEL A A - TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr2:155099377delA ENST00000392825.3 + 6 1212 c.645delA c.(643-645)ttafs p.L215fs GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 215 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AATGCACGTTAGGATGGCTGG 0.473 8 51 --- --- --- --- TMPRSS11D 9407 broad.mit.edu 37 4 68719842 68719845 + Frame_Shift_Del DEL ACTG ACTG - TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr4:68719842_68719845delACTG ENST00000283916.6 - 3 288_291 c.190_193delCAGT c.(190-195)cagttafs p.QL64fs TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 64 SEA. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity p.Q64*(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGTGAATTTAACTGACTATTATAT 0.304 7 119 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56060635 56060635 + Frame_Shift_Del DEL T T - TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr17:56060635delT ENST00000584396.1 - 2 214 c.126delA c.(124-126)aaafs p.K42fs VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 51 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 CACCCTGAGGTTTCTGAGTTA 0.473 7 212 --- --- --- --- ZNF333 84449 broad.mit.edu 37 19 14829233 14829251 + Frame_Shift_Del DEL CCTATGCATGTAACAAATG CCTATGCATGTAACAAATG - TCGA-G9-6348-01A-11D-1786-08 TCGA-G9-6348-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 663c2f26-4e49-4752-bde5-fb5e9229daf9 e6ab50da-966a-4429-95c9-36e22d269e25 g.chr19:14829233_14829251delCCTATGCATGTAACAAATG ENST00000292530.6 + 12 1185_1203 c.1094_1112delCCTATGCATGTAACAAATG c.(1093-1113)tcctatgcatgtaacaaatgtfs p.SYACNKC365fs ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC 0.438 8 67 --- --- --- ---