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 KTN1 0 broad.mit.edu 37 14 56084854 56084854 + Splice_Site SNP T T C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr14:56084854T>C ENST00000416613.1 + 3 904 c.e3+2 KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000395314.3_Splice_Site Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction p.?(1) breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 CTGACAAAGGTAATATATGGG 0.338000 T RET papillary thryoid 14 35 0 0 1 0 0 GRM3 0 broad.mit.edu 37 7 86415889 86415889 + Nonsense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr7:86415889C>T ENST00000361669.2 + 3 1880 c.781C>T c.(781-783)Cga>Tga p.R261* AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Nonsense_Mutation_p.R261*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.R259*|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Nonsense_Mutation_p.R133* NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 261 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAGCGTGATCCGAGAACTGTT 0.652000 9 38 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533422 169533422 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr5:169533422C>T ENST00000449804.2 + 1 506 c.461C>T c.(460-462)gCc>gTc p.A154V FOXI1_ENST00000306268.6_Missense_Mutation_p.A154V NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 154 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGTACGTGGCCGACAACTTC 0.612000 Pendred syndrome 17 14 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23716299 23716299 + Missense_Mutation SNP G G C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr12:23716299G>C ENST00000546136.1 - 10 1344 c.1342C>G c.(1342-1344)Caa>Gaa p.Q448E SOX5_ENST00000396007.2_Missense_Mutation_p.Q75E|SOX5_ENST00000451604.2_Missense_Mutation_p.Q461E|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.Q448E|SOX5_ENST00000537393.1_Missense_Mutation_p.Q426E|SOX5_ENST00000545921.1_Missense_Mutation_p.Q451E|SOX5_ENST00000381381.2_Intron P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 461 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CGAGCTTCTTGGATTGCCTTG 0.448000 26 56 0 0 1 0 0 COMMD5 28991 broad.mit.edu 37 8 146076589 146076589 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr8:146076589C>T ENST00000450361.2 - 2 556 c.135G>A c.(133-135)agG>agA p.R45R COMMD5_ENST00000305103.3_Silent_p.R45R|COMMD5_ENST00000402718.3_Silent_p.R45R NM_001081003.1 NP_001074472.1 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 45 nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1) 11 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) TGAACGTGCTCCTGTCTAGGT 0.607000 32 33 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31230715 31230715 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr16:31230715C>T ENST00000322122.3 + 4 876 c.592C>T c.(592-594)Cgg>Tgg p.R198W NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 198 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 AGAGCGTGTACGGGGTGAGGC 0.682000 7 37 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332225 107332225 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr9:107332225C>T ENST00000335040.1 + 1 777 c.777C>T c.(775-777)taC>taT p.Y259Y NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTTCATGTACGCAAAGCCTG 0.453000 9 40 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7750173 7750173 + Missense_Mutation SNP C C G TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr17:7750173C>G ENST00000254846.5 + 9 1137 c.748C>G c.(748-750)Cca>Gca p.P250A KDM6B_ENST00000448097.2_Missense_Mutation_p.P250A NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 250 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 gcctccaccaccattaccacc 0.622000 6 8 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9998546 9998546 + Missense_Mutation SNP T T C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr4:9998546T>C ENST00000506583.1 - 5 399 c.182A>G c.(181-183)aAt>aGt p.N61S SLC2A9_ENST00000309065.3_Missense_Mutation_p.N61S|SLC2A9_ENST00000264784.3_Missense_Mutation_p.N90S Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 90 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CCATGACTCATTGTAAAAGGC 0.443000 5 72 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 5 33 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907773 164907773 + Silent SNP G G T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr3:164907773G>T ENST00000475390.1 - 2 1289 c.846C>A c.(844-846)ccC>ccA p.P282P SLITRK3_ENST00000241274.3_Silent_p.P282P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 282 LRRCT 1. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CAGACAACAAGGGACAGAGTT 0.478000 HNSCC(40;0.11) 13 57 2.27111e-07 2.34321e-07 1 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148985641 148985641 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr4:148985641G>A ENST00000336498.3 + 22 2494 c.2255G>A c.(2254-2256)gGa>gAa p.G752E ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G350E NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 752 SH3. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTTGAAATAGGAGCAATTTTT 0.463000 7 25 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196728873 196728873 + Splice_Site SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr2:196728873C>T ENST00000312428.6 - 41 7606 c.7506_splice c.e41+1 p.Q2502_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2502 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGACAATACCTGAAACCAGT 0.388000 18 23 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10145811 10145811 + Silent SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr12:10145811G>A ENST00000428126.2 - 7 791 c.522C>T c.(520-522)ttC>ttT p.F174F CLEC1B_ENST00000298527.6_Silent_p.F207F|CLEC1B_ENST00000348658.4_Silent_p.F174F Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 207 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 TGTTCTCACAGAAGGTAGGGT 0.378000 31 105 0 0 1 0 0 TRAF5 7188 broad.mit.edu 37 1 211526628 211526628 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:211526628G>A ENST00000336184.2 + 2 107 c.47G>A c.(46-48)cGc>cAc p.R16H TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.R16H|TRAF5_ENST00000427925.2_Missense_Mutation_p.R16H|TRAF5_ENST00000261464.5_Missense_Mutation_p.R16H NM_004619.3 NP_004610.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 16 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) GGTTTCATCCGCCAGAATTCC 0.483000 OREG0014232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 102 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52602091 52602091 + Missense_Mutation SNP T T C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr18:52602091T>C ENST00000591504.1 - 7 834 c.560A>G c.(559-561)cAa>cGa p.Q187R CCDC68_ENST00000337363.4_Missense_Mutation_p.Q187R|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q187R NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 187 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TTCTGTAATTTGACTGTGTTT 0.353000 10 62 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129722502 129722502 + Missense_Mutation SNP A A C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr11:129722502A>C ENST00000281441.3 + 2 213 c.125A>C c.(124-126)tAt>tCt p.Y42S TMEM45B_ENST00000524567.1_Missense_Mutation_p.Y42S NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 42 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) CTACATTACTATCAGCGTCTC 0.498000 5 57 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733350 92733350 + Silent SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr7:92733350G>A ENST00000379958.2 - 3 2330 c.2061C>T c.(2059-2061)ggC>ggT p.G687G NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 687 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATGACACTTTGCCACCTCGAT 0.353000 26 125 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142621 177142621 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr4:177142621G>A ENST00000296525.3 - 4 628 c.515C>T c.(514-516)aCg>aTg p.T172M ASB5_ENST00000512254.1_Missense_Mutation_p.T119M NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 172 intracellular signal transduction p.T172M(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GGCCTCATGCGTTGGGGATGG 0.493000 8 71 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52525392 52525392 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr3:52525392C>T ENST00000345716.4 + 20 3901 c.3767C>T c.(3766-3768)aCg>aTg p.T1256M NISCH_ENST00000479054.1_Missense_Mutation_p.T1256M NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1256 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CAGGTGGTCACGTGCTTGACG 0.667000 12 14 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48918243 48918243 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr17:48918243G>A ENST00000311378.4 + 2 2122 c.1594G>A c.(1594-1596)Gag>Aag p.E532K WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E439K|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 532 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CATCATGGGGGAGGTGGACGG 0.642000 7 19 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90673204 90673204 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr10:90673204G>A ENST00000371927.3 + 6 1725 c.767G>A c.(766-768)aGt>aAt p.S256N STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.S90N|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S256N Q96FJ0 STALP_HUMAN STAM binding protein-like 1 256 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) GCTACTCTAAGTGCTGTTCAG 0.448000 21 27 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845220 123845220 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr10:123845220G>A ENST00000369005.1 + 4 3545 c.3205G>A c.(3205-3207)Gga>Aga p.G1069R TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1069R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1069R|TACC2_ENST00000515603.1_Missense_Mutation_p.G1069R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1069R NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1069 microtubule organizing center|nucleus nuclear hormone receptor binding p.G1069R(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CGCCAGCCCCGGAGTCACACC 0.642000 4 42 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525894 176525894 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:176525894G>A ENST00000367662.3 + 2 1600 c.436G>A c.(436-438)Gct>Act p.A146T PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 146 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGATGATGACGCTTATCTCGG 0.542000 14 91 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945386 144945386 + Missense_Mutation SNP G G A rs142055364 by1000genomes TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr8:144945386G>A ENST00000525985.1 - 2 2107 c.2036C>T c.(2035-2037)gCg>gTg p.A679V P58107 EPIPL_HUMAN epiplakin 1 679 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCAGCTTCGCGAACACATC 0.602000 3 26 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58087892 58087892 + Translation_Start_Site SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr12:58087892G>A ENST00000552285.1 + 0 155 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGTTGAGGCCGCTGCCTGGCT 0.532000 OREG0021950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50905958 50905958 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr15:50905958C>T ENST00000313478.7 - 15 1997 c.1716G>A c.(1714-1716)aaG>aaA p.K572K TRPM7_ENST00000560955.1_Silent_p.K572K NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 572 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCATTTTTTCCTTTTTATCTG 0.368000 4 25 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035727 50035727 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr12:50035727G>A ENST00000261897.1 + 18 2250 c.1699G>A c.(1699-1701)Gag>Aag p.E567K FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E602K|PRPF40B_ENST00000380281.1_Missense_Mutation_p.E580K Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 580 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CACGGCCTTTGAGGACTTCGC 0.617000 10 33 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b 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 18 32 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79292184 79292184 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr15:79292184C>T ENST00000419573.3 - 18 2969 c.2695G>A c.(2695-2697)Gcc>Acc p.A899T RASGRF1_ENST00000558480.2_Missense_Mutation_p.A883T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A115T|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 901 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCGACAAGGCACTGCGGTTA 0.572000 28 34 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42153664 42153664 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr15:42153664G>A ENST00000320955.6 - 46 7995 c.7768C>T c.(7768-7770)Cgt>Tgt p.R2590C NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2590 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CAAAGCCAACGTTCCATCTTC 0.547000 18 20 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113565994 113565994 + Missense_Mutation SNP C C A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr4:113565994C>A ENST00000509061.1 + 4 493 c.190C>A c.(190-192)Ctt>Att p.L64I LARP7_ENST00000344442.5_Missense_Mutation_p.L57I|LARP7_ENST00000324052.6_Missense_Mutation_p.L57I NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 57 HTH La-type RNA-binding. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GGATAGATTTCTTCGAGAACA 0.343000 16 50 1.45105e-14 1.52126e-14 1 1 0 ITPKB 3707 broad.mit.edu 37 1 226924704 226924704 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:226924704C>T ENST00000429204.1 - 2 783 c.456G>A c.(454-456)gcG>gcA p.A152A ITPKB_ENST00000272117.3_Silent_p.A152A|ITPKB_ENST00000366784.1_Silent_p.A152A NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 152 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.A152A(1) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CCTGGATGTGCGCCTCAAACA 0.667000 19 73 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132874313 132874313 + Missense_Mutation SNP C C T rs140382740 TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr6:132874313C>T ENST00000275200.1 + 1 482 c.482C>T c.(481-483)aCg>aTg p.T161M NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 161 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CTGCCTCTCACGTACAGCGGT 0.488000 8 218 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108117645 108117645 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr3:108117645C>T ENST00000273353.3 - 36 5088 c.5032G>A c.(5032-5034)Gat>Aat p.D1678N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1678 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCCTTCAGATCACTGTTCAGT 0.522000 10 140 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196871561 196871561 + Silent SNP T T C TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:196871561T>C ENST00000367416.2 + 2 206 c.69T>C c.(67-69)tgT>tgC p.C23C CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Silent_p.C24C|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.C24*(1)|p.C23*(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TGAAACCTTGTGATTTTCCAG 0.279000 6 96 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr3:178916944A>G ENST00000263967.3 + 2 488 c.331A>G c.(331-333)Aag>Gag p.K111E NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111E(13)|p.K111_L113delKIL(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCGTGAAGAAAAGATCCTCAA 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 33 48 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134491421 134491421 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr6:134491421C>T ENST00000367858.5 - 14 2163 c.1566G>A c.(1564-1566)acG>acA p.T522T SGK1_ENST00000528577.1_Silent_p.T455T|SGK1_ENST00000237305.7_Silent_p.T427T|SGK1_ENST00000367857.5_Silent_p.T417T|SGK1_ENST00000413996.3_Silent_p.T441T|SGK1_ENST00000475719.2_Silent_p.T383T NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 427 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGAAAGAGTCCGTGGGAGGCG 0.527000 8 27 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 31 0 0 1 0 0 GPR174 84636 broad.mit.edu 37 X 78427140 78427140 + Silent SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chrX:78427140G>A ENST00000276077.1 + 1 672 c.636G>A c.(634-636)ctG>ctA p.L212L NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 212 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 TTTTATCACTGCAAGATAAAT 0.438000 HNSCC(63;0.18) 19 43 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74193659 74193659 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr7:74193659G>A ENST00000289473.4 + 4 356 c.286G>A c.(286-288)Gag>Aag p.E96K NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 96 PX. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 CACACTTACCGAGTACTGCGG 0.642000 4 6 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1614053 1614053 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr16:1614053C>T ENST00000426508.2 - 17 2375 c.2012G>A c.(2011-2013)cGc>cAc p.R671H IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 671 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) AGGCTGGGAGCGCGGCGTCTC 0.582000 19 49 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107823282 107823282 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr7:107823282G>A ENST00000379028.3 - 23 2857 c.2387C>T c.(2386-2388)aCa>aTa p.T796I NRCAM_ENST00000351718.4_Missense_Mutation_p.T780I|NRCAM_ENST00000379022.4_Missense_Mutation_p.T796I|NRCAM_ENST00000379024.4_Missense_Mutation_p.T777I|NRCAM_ENST00000413765.2_Missense_Mutation_p.T777I|NRCAM_ENST00000425651.2_Missense_Mutation_p.T796I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 796 Fibronectin type-III 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AACCACAGATGTCCATTCATC 0.453000 30 40 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 32 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108353774 108353774 + Silent SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr3:108353774C>T ENST00000361582.3 + 10 1103 c.873C>T c.(871-873)tgC>tgT p.C291C DZIP3_ENST00000463306.1_Silent_p.C291C NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 291 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ATAAAATTTGCTGGAAAAAGT 0.308000 3 42 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908182 53908182 + Missense_Mutation SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr15:53908182C>T ENST00000396328.1 - 15 2460 c.2221G>A c.(2221-2223)Gca>Aca p.A741T WDR72_ENST00000559418.1_Missense_Mutation_p.A751T|WDR72_ENST00000557913.1_Missense_Mutation_p.A738T|WDR72_ENST00000360509.5_Missense_Mutation_p.A741T NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 741 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TTGGCTAGTGCCTCTGCTGAA 0.443000 9 35 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8678347 8678347 + Missense_Mutation SNP C C A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr20:8678347C>A ENST00000378641.3 + 11 1559 c.1084C>A c.(1084-1086)Ctg>Atg p.L362M PLCB1_ENST00000338037.6_Missense_Mutation_p.L362M|PLCB1_ENST00000378637.2_Missense_Mutation_p.L362M NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 362 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGTGTGGAGCTGGACTGCTG 0.483000 4 98 0.150653 0.150653 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62298554 62298554 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr11:62298554G>A ENST00000378024.4 - 5 3609 c.3335C>T c.(3334-3336)gCa>gTa p.A1112V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1112 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CACATCTGGTGCTTTAATATC 0.488000 23 120 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57744174 57744174 + Missense_Mutation SNP T T G TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr17:57744174T>G ENST00000269122.3 + 13 2238 c.1964T>G c.(1963-1965)tTt>tGt p.F655C CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F655C NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 655 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTCAACTACTTTGGTTCCTTA 0.363000 T """ALK, TFE3""" """ALCL, renal """ 19 31 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132262624 132262624 + Silent SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr12:132262624G>A ENST00000261674.4 + 14 2298 c.2157G>A c.(2155-2157)acG>acA p.T719T SFSWAP_ENST00000541286.1_Silent_p.T719T NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 719 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CCAGCACTACGCCCTGCCCTC 0.448000 10 29 0 0 1 0 0 CCL16 6360 broad.mit.edu 37 17 34304693 34304693 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr17:34304693G>A ENST00000293275.3 - 3 347 c.272C>T c.(271-273)cCc>cTc p.P91L NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 91 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGTAGGTTGGGATCCTTGAT 0.507000 30 87 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 62 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584408 42584408 + Silent SNP C C G TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr19:42584408C>G ENST00000600245.1 + 2 2305 c.1650C>G c.(1648-1650)ccC>ccG p.P550P ZNF574_ENST00000222339.7_Silent_p.P640P|ZNF574_ENST00000359044.4_Silent_p.P550P Q6ZN55 ZN574_HUMAN zinc finger protein 574 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GAGAGCGGCCCTACCGGTGTG 0.647000 51 25 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125804102 125804102 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr10:125804102G>A ENST00000346248.5 - 3 1522 c.880C>T c.(880-882)Cgc>Tgc p.R294C CHST15_ENST00000421115.1_Missense_Mutation_p.R294C|CHST15_ENST00000435907.1_Missense_Mutation_p.R294C NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 294 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TCACCAAAGCGCTTCCGGGTC 0.637000 6 9 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430201 12430201 + Missense_Mutation SNP C C T rs113773973 byFrequency TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr19:12430201C>T ENST00000293725.5 - 4 843 c.638G>A c.(637-639)cGt>cAt p.R213H ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTCATGCATACGTAATAAACT 0.393000 55 77 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432210 10432210 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr17:10432210G>A ENST00000245503.5 - 27 3925 c.3541C>T c.(3541-3543)Cgc>Tgc p.R1181C CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1181 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGGTCCCTGCGCATTTTCTGG 0.592000 26 125 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11115092 11115092 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr1:11115092G>A ENST00000376957.2 - 7 895 c.815C>T c.(814-816)gCg>gTg p.A272V NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 272 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) CTGCATCTGCGCCACCTGCTG 0.632000 22 7 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 2 4 --- --- --- --- ANTXR2 118429 broad.mit.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - rs12647691 by1000genomes TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr4:80905990delC ENST00000403729.2 - 13 1594 c.1069delG c.(1069-1071)ccfs p.A357fs ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 357 Poly-Pro. A -> P (in dbSNP:rs12647691). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGTGCAGGGGCGGGTGGTGGT 0.348 Juvenile Hyaline Fibromatosis 4 9 --- --- --- --- LRRN4 164312 broad.mit.edu 37 20 6033401 6033401 + Frame_Shift_Del DEL G G - TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chr20:6033401delG ENST00000378858.4 - 2 269 c.45delC c.(43-45)ccfs p.P15fs NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 15 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CTGCCCAGCTGGGGCGCAGCA 0.682 2 4 --- --- --- --- HDX 139324 broad.mit.edu 37 X 83730327 83730331 + Frame_Shift_Del DEL TTTGA TTTGA - TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd703fa-227d-40f8-962b-53c746b2c372 43476bb5-3d68-4d0c-9e1a-2937705a654b g.chrX:83730327_83730331delTTTGA ENST00000297977.5 - 2 186_190 c.75_79delTCAAA c.(73-81)aagtfs p.NQS25fs HDX_ENST00000373177.2_Frame_Shift_Del_p.NQS25fs|HDX_ENST00000506585.2_Intron NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 25 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CAATTTTTACTTTGATTTGTCATTC 0.327 8 28 --- --- --- ---