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 CYTH1 9267 broad.mit.edu 37 17 76694917 76694917 + Silent SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr17:76694917C>T ENST00000589297.1 - 8 1199 c.507G>A c.(505-507)ccG>ccA p.P169P CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.P228P|CYTH1_ENST00000585509.1_Silent_p.P169P|CYTH1_ENST00000591455.1_Silent_p.P228P|CYTH1_ENST00000361101.4_Silent_p.P228P Q15438 CYH1_HUMAN cytohesin 1 228 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 GGAGCTCCTCCGGCAGGTCTC 0.488000 41 196 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149481078 149481078 + RNA SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr7:149481078G>A ENST00000378016.2 + 0 2560 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGAGAGCTGGGCAGCTGTGT 0.647000 6 13 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41710291 41710291 + Missense_Mutation SNP A A C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr21:41710291A>C ENST00000400454.1 - 8 1997 c.1520T>G c.(1519-1521)aTt>aGt p.I507S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 507 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CATTGGTCGAATGCTTGCAGG 0.403000 11 21 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45646937 45646937 + Missense_Mutation SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr2:45646937C>T ENST00000263736.4 - 17 2208 c.2146G>A c.(2146-2148)Gtt>Att p.V716I SRBD1_ENST00000535761.1_Missense_Mutation_p.V235I|SRBD1_ENST00000490133.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 716 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CTTAACAAAACTTCTGAACAG 0.428000 24 60 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 8 78 6.31663e-08 6.99951e-08 1 1 0 HOXA1 3198 broad.mit.edu 37 7 27134952 27134952 + Missense_Mutation SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr7:27134952G>A ENST00000343060.4 - 1 641 c.580C>T c.(580-582)Ccc>Tcc p.P194S HOXA1_ENST00000355633.5_Missense_Mutation_p.P126L NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 194 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCCGATGCGGGGGAGCGACAG 0.552000 36 89 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54466583 54466583 + Missense_Mutation SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr19:54466583G>A ENST00000270458.2 + 1 290 c.187G>A c.(187-189)Gac>Aac p.D63N NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 63 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGGCGGCGACGACGGGACCCC 0.701000 4 27 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 16 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30416522 30416522 + Silent SNP C C T rs147400483 byFrequency TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr22:30416522C>T ENST00000333027.3 + 17 3202 c.2874C>T c.(2872-2874)tgC>tgT p.C958C CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.C958C|MTMR3_ENST00000323630.5_Silent_p.C822C|MTMR3_ENST00000401950.2_Silent_p.C958C|MTMR3_ENST00000351488.3_Silent_p.C958C NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 958 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.C958C(2) breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) ATGGGCATTGCGCCAATGGGG 0.582000 22 56 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846753 55846753 + Silent SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr12:55846753C>T ENST00000322678.1 + 1 756 c.756C>T c.(754-756)agC>agT p.S252S RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CCTATGGAAGCTGCATCTTCA 0.428000 5 110 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G T rs121913499 TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr2:209113113G>T ENST00000415913.1 - 4 775 c.394C>A c.(394-396)Cgt>Agt p.R132S IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 18 64 0.000566183 0.000610882 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70152589 70152589 + Missense_Mutation SNP G G C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr4:70152589G>C ENST00000335568.5 + 3 992 c.990G>C c.(988-990)aaG>aaC p.K330N UGT2B28_ENST00000511240.1_Missense_Mutation_p.K330N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 330 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CCCTTGCCAAGATCCCACAAA 0.423000 11 124 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886219 30886219 + Missense_Mutation SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr22:30886219C>T ENST00000540456.1 - 13 1244 c.1051G>A c.(1051-1053)Gac>Aac p.D351N SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000381982.3_Intron Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 366 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TAGGTGTTGTCGAAGCGCAGG 0.592000 6 68 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39203057 39203057 + Silent SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr5:39203057C>T ENST00000351578.6 - 2 196 c.6G>A c.(4-6)gcG>gcA p.A2A FYB_ENST00000512982.1_Silent_p.A2A|FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000505428.1_Silent_p.A2A NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 2 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTTATATTTCGCCATGAGGG 0.433000 30 55 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201400804 201400804 + Missense_Mutation SNP A A G TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr2:201400804A>G ENST00000357799.4 + 4 424 c.326A>G c.(325-327)gAc>gGc p.D109G SGOL2_ENST00000409203.3_Missense_Mutation_p.D109G|SGOL2_ENST00000469840.1_3'UTR NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 109 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAGCTTATAGACATAGAAGCT 0.299000 4 95 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74700992 74700992 + Missense_Mutation SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr10:74700992C>T ENST00000373032.3 - 3 493 c.401G>A c.(400-402)cGa>cAa p.R134Q NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 134 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) GAGACACCATCGGAATTTTGC 0.502000 10 168 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28574169 28574169 + Missense_Mutation SNP G G C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr18:28574169G>C ENST00000360428.4 - 16 2743 c.2663C>G c.(2662-2664)aCa>aGa p.T888R DSC3_ENST00000434452.1_3'UTR NM_001941.3 NP_001932.2 Q14574 DSC3_HUMAN desmocollin 3 888 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTCTGCTAATGTAATAAATTT 0.388000 13 48 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 29 0 0 1 0 0 CD300LB 124599 broad.mit.edu 37 17 72521999 72521999 + Silent SNP C C T TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr17:72521999C>T ENST00000392621.1 - 2 373 c.369G>A c.(367-369)acG>acA p.T123T CD300LB_ENST00000314401.3_Silent_p.T123T NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 86 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 TCACAGTGAACGTGCGGTCTT 0.517000 69 156 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 6 25 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25415694 25415694 + RNA SNP G G A rs1883008 by1000genomes TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr15:25415694G>A ENST00000549301.1 + 0 208 SNHG14_ENST00000553149.1_RNA TGGTGACCATGGAGGAAGACT 0.622000 3 28 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345745 23345745 + Missense_Mutation SNP G G C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr20:23345745G>C ENST00000338121.5 + 2 802 c.725G>C c.(724-726)aGa>aCa p.R242T GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R242T|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 242 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) AAATATACGAGAAGACTCCGA 0.532000 25 50 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58564252 58564252 + Splice_Site SNP C C A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr16:58564252C>A ENST00000317147.5 - 43 6510 c.e43-1 CNOT1_ENST00000245138.4_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TAGGCCACCCCTGAAAGAAAG 0.393000 6 55 0.00198382 0.00208555 1 1 0 IPO13 9670 broad.mit.edu 37 1 44415398 44415398 + Missense_Mutation SNP C C G rs138977771 byFrequency TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr1:44415398C>G ENST00000372343.3 + 2 1056 c.394C>G c.(394-396)Ctc>Gtc p.L132V NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 132 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTCACTGGCTCTCAGCATGAT 0.587000 17 31 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46264191 46264191 + Missense_Mutation SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr20:46264191G>A ENST00000372004.3 + 11 1454 c.1238G>A c.(1237-1239)aGc>aAc p.S413N NCOA3_ENST00000371997.3_Missense_Mutation_p.S423N|NCOA3_ENST00000371998.3_Missense_Mutation_p.S413N|NCOA3_ENST00000341724.6_Missense_Mutation_p.S423N NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 413 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CAGATGCCGAGCAGCAGGGCC 0.552000 3 46 0 0 1 0 0 ACKR6 0 broad.mit.edu 37 17 6358837 6358837 + Missense_Mutation SNP A A C TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr17:6358837A>C ENST00000262483.8 - 20 2833 c.2746T>G c.(2746-2748)Ttc>Gtc p.F916V ACKR6_ENST00000421306.3_Missense_Mutation_p.F880V|ACKR6_ENST00000576664.1_5'UTR NM_031220.3 NP_112497.2 TTCCGCAGGAACTCTGGCTGC 0.697000 3 37 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183694 197183694 + Silent SNP G G A TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr2:197183694G>A ENST00000260983.2 - 9 2102 c.1920C>T c.(1918-1920)tgC>tgT p.C640C HECW2_ENST00000409111.1_Silent_p.C284C NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 640 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGCTGTCAGCGCATTCCAGGT 0.587000 3 48 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 3 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 7 40 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939540 76939540 + Frame_Shift_Del DEL T T - TCGA-HT-7858-01A-11D-2395-08 TCGA-HT-7858-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59cdcd9b-04e6-43cb-9f34-562105029994 10322624-d067-43ec-8617-7c45e71c9c3f g.chrX:76939540delT ENST00000373344.5 - 9 1422 c.1208delA c.(1207-1209)agfs p.K404fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K366fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 404 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) ATGAGCCTTCTTAATATCAGC 0.348 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 176 103 --- --- --- ---