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 CEP192 55125 broad.mit.edu 37 18 13100327 13100327 + Silent SNP A A G TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr18:13100327A>G ENST00000506447.1 + 38 6767 c.6687A>G c.(6685-6687)cgA>cgG p.R2229R CEP192_ENST00000325971.8_Silent_p.R1633R|CEP192_ENST00000430049.2_Silent_p.R1754R|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1824 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTCAAATTCGAGAAGATTTAA 0.343000 6 38 0 0 1 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7998781 7998781 + Splice_Site SNP C C A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr1:7998781C>A ENST00000377507.3 - 3 374 c.208_splice c.e3+1 p.G70_splice NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 70 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.G70C(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GAACTCATACCTTTACACTGC 0.398000 11 93 2.27111e-07 2.48238e-07 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85459188 85459188 + Missense_Mutation SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:85459188C>T ENST00000393217.2 + 9 2601 c.2540C>T c.(2539-2541)gCa>gTa p.A847V NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 847 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TACATTGATGCACAGGTATGC 0.333000 7 53 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10128939 10128939 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr3:10128939G>A ENST00000287647.3 + 34 3550 c.3457G>A c.(3457-3459)Gaa>Aaa p.E1153K FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1153 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCAGAACAAAGAAAAAATTGG 0.348000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 62 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30724278 30724278 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr4:30724278G>A ENST00000361762.2 + 1 2242 c.1234G>A c.(1234-1236)Gtg>Atg p.V412M PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 412 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GAACGACAACGTGCCGTCCAT 0.632000 4 37 0 0 1 0 0 GREM1 26585 broad.mit.edu 37 15 33023158 33023158 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr15:33023158G>A ENST00000300177.4 + 2 456 c.267G>A c.(265-267)ctG>ctA p.L89L GREM1_ENST00000322805.4_Silent_p.L48L|GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000560677.1_3'UTR NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist 89 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GCAAATACCTGAAGCGAGACT 0.632000 7 31 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79207664 79207664 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr4:79207664G>A ENST00000264895.6 + 14 1945 c.1505G>A c.(1504-1506)gGc>gAc p.G502D FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D|FRAS1_ENST00000325942.6_Missense_Mutation_p.G502D NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 502 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGTGGGGACGGCTTCTACCAA 0.622000 3 50 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101097609 101097609 + Nonsense_Mutation SNP C C T rs142655356 TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr2:101097609C>T ENST00000376865.1 + 8 401 c.394C>T c.(394-396)Cga>Tga p.R132* NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 132 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 GACCTGGGGACGACCCTTTTT 0.423000 4 164 0 0 1 0 0 TAC3 6866 broad.mit.edu 37 12 57409569 57409569 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:57409569G>A ENST00000458521.2 - 2 172 c.13C>T c.(13-15)Ctg>Ttg p.L5L TAC3_ENST00000441881.1_Silent_p.L5L|TAC3_ENST00000415231.1_Silent_p.L5L NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 5 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 GTGAATAGCAGCATGATCCTC 0.547000 5 36 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125359621 125359621 + Missense_Mutation SNP G G C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr11:125359621G>C ENST00000278919.3 - 2 287 c.53C>G c.(52-54)tCc>tGc p.S18C FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C|FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 18 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CTCCGAGCAGGAGGGTCGAAG 0.537000 14 53 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129305068 129305068 + Silent SNP C C G TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr3:129305068C>G ENST00000393239.1 - 4 1846 c.1668G>C c.(1666-1668)ggG>ggC p.G556G PLXND1_ENST00000324093.4_Silent_p.G556G Q9Y4D7 PLXD1_HUMAN plexin D1 556 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCACGCAGTCCCCACAGGTGG 0.692000 3 8 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791744 42791744 + Missense_Mutation SNP C C A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr19:42791744C>A ENST00000572681.2 + 6 3425 c.3357C>A c.(3355-3357)ttC>ttA p.F1119L CIC_ENST00000160740.3_Missense_Mutation_p.F210L|CIC_ENST00000575354.2_Missense_Mutation_p.F210L Q96RK0 CIC_HUMAN capicua transcriptional repressor 210 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCATGATCTTCAGCAAGCGGC 0.622000 """Mis, F, S""" oligodendroglioma 9 34 2.17888e-05 2.32744e-05 1 1 0 ANK1 286 broad.mit.edu 37 8 41521247 41521247 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr8:41521247T>C ENST00000396942.1 - 40 5491 c.5408A>G c.(5407-5409)cAg>cGg p.Q1803R ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1803 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGAATATTCTGAAACTCATT 0.512000 4 55 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73650092 73650092 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr2:73650092G>A ENST00000264448.6 + 4 865 c.754G>A c.(754-756)Gca>Aca p.A252T ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 252 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTAAGTTTTGCACCTCTGAG 0.378000 28 134 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 885978 885978 + Missense_Mutation SNP C C G rs137978287 TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr19:885978C>G ENST00000312090.6 - 5 821 c.671G>C c.(670-672)gGc>gCc p.G224A MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.G224A|MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A Q9Y2X0 MED16_HUMAN mediator complex subunit 16 224 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGATGTTGCCGCCGCCGGT 0.701000 10 22 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153755873 153755873 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr5:153755873T>C ENST00000297107.6 + 5 742 c.605T>C c.(604-606)cTt>cCt p.L202P SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 202 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TACATGGCCCTTTTCCCCAGT 0.502000 3 110 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053535 5053535 + Silent SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr16:5053535C>T ENST00000251170.7 + 11 1443 c.1263C>T c.(1261-1263)atC>atT p.I421I NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 421 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GGCTGCTCATCGTGCGAGCCC 0.657000 7 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 9 39 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65320906 65320906 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr11:65320906G>A ENST00000301873.5 - 4 1228 c.960C>T c.(958-960)ccC>ccT p.P320P LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P320P NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 320 TB 1. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 ACTGCAGCTGGGGACACTTGT 0.667000 6 23 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135078909 135078909 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr7:135078909T>C ENST00000428680.2 - 10 1658 c.1379A>G c.(1378-1380)aAt>aGt p.N460S CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 463 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ATTGAGAGAATTGGCATTTGT 0.502000 18 62 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917591 4917591 + Silent SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr7:4917591C>T ENST00000399583.3 - 2 367 c.180G>A c.(178-180)tcG>tcA p.S60S RADIL_ENST00000536091.1_Silent_p.S60S NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 60 cell adhesion|multicellular organismal development|signal transduction protein binding p.S60S(1) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACCAGGGGCCGACAGCTGGG 0.657000 3 22 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153583249 153583249 + Missense_Mutation SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chrX:153583249C>T ENST00000422373.1 - 30 5385 c.5137G>A c.(5137-5139)Gtc>Atc p.V1713I FLNA_ENST00000369850.3_Missense_Mutation_p.V1721I|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1721 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACACAGATGACGTATTTGCCC 0.622000 3 48 0 0 1 0 0 EIF2B1 1967 broad.mit.edu 37 12 124111476 124111476 + Silent SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:124111476T>C ENST00000537073.1 - 5 805 c.597A>G c.(595-597)gcA>gcG p.A199A EIF2B1_ENST00000539951.1_Intron|EIF2B1_ENST00000424014.2_Intron Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 0 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TGAAAGGCAGTGCTGACTGCT 0.453000 3 2 0 0 1 0 0 TAS1R1 0 broad.mit.edu 37 1 6639509 6639509 + Silent SNP G G T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr1:6639509G>T ENST00000333172.6 + 6 2584 c.2391G>T c.(2389-2391)ctG>ctT p.L797L TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L543L NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 797 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TGGCTGGGCTGAGCAGCCTGA 0.597000 7 29 0.00307968 0.00307968 1 1 0 ZNF37BP 0 broad.mit.edu 37 10 43016558 43016558 + RNA SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr10:43016558T>C ENST00000473592.1 - 0 2641 GAATAGTTTCTACTGGTATTA 0.313000 27 60 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008870 120008870 + Missense_Mutation SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chrX:120008870C>T ENST00000371311.3 - 1 909 c.655G>A c.(655-657)Gcg>Acg p.A219T NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 219 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCCTCCTCCGCGGGCTCCCTG 0.692000 7 145 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087746 49087746 + Silent SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:49087746T>C ENST00000261900.3 - 9 1473 c.1251A>G c.(1249-1251)caA>caG p.Q417Q NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 417 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CATATGCATATTGTGACTTCA 0.468000 39 121 0 0 1 0 0 SLC25A5 292 broad.mit.edu 37 X 118603879 118603879 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chrX:118603879G>A ENST00000317881.8 + 2 483 c.367G>A c.(367-369)Gca>Aca p.A123T SLC25A5_ENST00000460013.1_3'UTR NM_001152.4 NP_001143.2 P05141 ADT2_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 123 chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex adenine transmembrane transporter activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2) 12 Clodronate(DB00720) GGGTGGTGCCGCAGGGGCCAC 0.527000 4 165 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943140 12943140 + Missense_Mutation SNP C C G TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr1:12943140C>G ENST00000235349.5 - 2 146 c.76G>C c.(76-78)Gcc>Ccc p.A26P NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 26 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGACATGGCCAAAGCTTGG 0.577000 21 125 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10387145 10387145 + Missense_Mutation SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr8:10387145G>A ENST00000328655.3 + 2 323 c.283G>A c.(283-285)Ggc>Agc p.G95S PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 95 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TTTCTGTGGCGGCTCCATCCT 0.547000 30 268 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31618142 31618142 + Missense_Mutation SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr14:31618142T>C ENST00000399332.1 - 14 2868 c.2380A>G c.(2380-2382)Aga>Gga p.R794G HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 794 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTGGTTCCTCTATTAGATTCA 0.308000 8 54 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 307979 307979 + Missense_Mutation SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:307979C>T ENST00000428720.1 - 8 1573 c.830G>A c.(829-831)cGc>cAc p.R277H SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 277 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GTCCTTGAGGCGGAACAAATC 0.517000 14 72 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 130 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3613264 3613264 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr19:3613264G>A ENST00000429344.2 - 9 1630 c.1578C>T c.(1576-1578)gaC>gaT p.D526D CACTIN_ENST00000248420.5_Silent_p.D526D|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.D458D NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CCCCGTCGCCGTCGCCCTCTG 0.761000 6 29 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59797962 59797962 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr14:59797962G>A ENST00000395125.1 + 13 1619 c.1596G>A c.(1594-1596)tcG>tcA p.S532S DAAM1_ENST00000351081.1_Silent_p.S532S|DAAM1_ENST00000360909.3_Silent_p.S532S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 532 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) GTGGACCCTCGCCTGGAGCAC 0.517000 14 81 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100378648 100378648 + Missense_Mutation SNP C C G rs144717099 TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr3:100378648C>G ENST00000273352.3 + 14 2208 c.1940C>G c.(1939-1941)tCg>tGg p.S647W GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.S352W NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 647 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ATTACAATCTCGATCAAAGTG 0.438000 8 60 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76944310 76944310 + Splice_Site SNP C C T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chrX:76944310C>T ENST00000373344.5 - 7 809 c.e7+1 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCATTACATACCTTACAAATA 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 15 65 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114278301 114278301 + Missense_Mutation SNP A A C TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr11:114278301A>C ENST00000540163.1 + 5 1215 c.573A>C c.(571-573)caA>caC p.Q191H RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR Q9Y580 RBM7_HUMAN RNA binding motif protein 7 191 meiosis nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) AGTGGCGCCAAGGTACACCAT 0.438000 17 109 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113533219 113533219 + Splice_Site SNP G G T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:113533219G>T ENST00000257600.3 + 8 2141 c.1638_splice c.e8+1 p.K546_splice DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 546 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AAGGCCGGAAGGTGGGTGCCC 0.632000 6 50 0.000157383 0.000164378 1 1 0 ACACB 32 broad.mit.edu 37 12 109703224 109703224 + Missense_Mutation SNP G G T TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:109703224G>T ENST00000338432.7 + 52 7263 c.7144G>T c.(7144-7146)Gtg>Ttg p.V2382L ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L|ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2382 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCAGGTGGTTGTGCAGTGGCT 0.627000 6 28 0.000274275 0.000280238 1 1 0 LECT1 11061 broad.mit.edu 37 13 53298165 53298165 + Silent SNP G G A TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr13:53298165G>A ENST00000448904.2 - 4 545 c.435C>T c.(433-435)ggC>ggT p.G145G LECT1_ENST00000377962.3_Silent_p.G145G NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 145 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) TGGTCACGGCGCCCACCTCAG 0.483000 10 13 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149447887 149447887 + Frame_Shift_Del DEL C C - TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr2:149447887delC ENST00000258484.6 + 2 292 c.258delC c.(256-258)tafs p.Y86fs EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 86 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TCAACTATTACAATCGCTTGT 0.348 19 114 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 6 4 --- --- --- --- TUBA1A 7846 broad.mit.edu 37 12 49580473 49580476 + Frame_Shift_Del DEL GAAG GAAG - TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr12:49580473_49580476delGAAG ENST00000301071.7 - 2 488_491 c.144_147delCTTC c.(142-147)tcfs p.SF48fs TUBA1A_ENST00000295766.5_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 48 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 AGAAGGTGTTGAAGGAATCATCTC 0.559 21 117 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 4 8 --- --- --- --- SDK2 54549 broad.mit.edu 37 17 71382018 71382018 + Frame_Shift_Del DEL G G - TCGA-FG-A713-01A-11D-A32B-08 TCGA-FG-A713-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed89386f-0b6c-4b6b-bbac-c869aa72a025 bc2fa6a0-87a9-4052-a9ee-9a1d54413f32 g.chr17:71382018delG ENST00000392650.3 - 32 4537 c.4537delC c.(4537-4539)acfs p.H1513fs SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1513 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GTGGTGGTGTGGGGCGTCACG 0.632 2 4 --- --- --- ---