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 MCM8 84515 broad.mit.edu 37 20 5933129 5933129 + Missense_Mutation SNP G G T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr20:5933129G>T ENST00000378896.3 + 3 585 c.208G>T c.(208-210)Gat>Tat p.D70Y MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 70 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 GTCAACATTGGATCGATTCAT 0.338000 4 166 0.00909568 0.00909568 1 1 0 SCARB2 950 broad.mit.edu 37 4 77100808 77100808 + Silent SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr4:77100808G>A ENST00000264896.2 - 4 823 c.474C>T c.(472-474)gcC>gcT p.A158A SCARB2_ENST00000452464.2_Intron NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 158 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) CTTTCAACATGGCCTCGATGA 0.488000 OREG0016231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 218 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 35 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30792609 30792609 + Missense_Mutation SNP C C T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr12:30792609C>T ENST00000256079.4 - 21 2667 c.2329G>A c.(2329-2331)Gag>Aag p.E777K IPO8_ENST00000544829.1_Missense_Mutation_p.E572K NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 777 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GTACGAAGCTCACTAGTTTTG 0.438000 19 90 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7683487 7683487 + Missense_Mutation SNP G G A rs147216751 TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:7683487G>A ENST00000572933.1 + 37 7195 c.5735G>A c.(5734-5736)cGc>cAc p.R1912H DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1912 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TATGCTGGCCGCACAGAGCTT 0.463000 4 205 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565373 18565373 + Silent SNP A A G rs147985634 by1000genomes TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:18565373A>G ENST00000545289.1 - 5 1696 c.1446T>C c.(1444-1446)ctT>ctC p.L482L NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GATGTTGAATAAGAGCTGATG 0.388000 3 58 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131285068 131285068 + Missense_Mutation SNP A A T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr9:131285068A>T ENST00000309971.4 + 4 660 c.554A>T c.(553-555)cAg>cTg p.Q185L GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L|GLE1_ENST00000539582.1_Intron NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 185 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 AAAGAATTCCAGGACTTGCGG 0.473000 3 46 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152759824 152759824 + Missense_Mutation SNP A A C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:152759824A>C ENST00000368770.3 + 2 102 c.49A>C c.(49-51)Act>Cct p.T17P LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 17 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tcccaagtgcactcccaagtg 0.602000 75 103 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36357265 36357265 + Missense_Mutation SNP C C T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:36357265C>T ENST00000312412.4 - 9 987 c.988G>A c.(988-990)Gca>Aca p.A330T TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T kidney(1)|lung(3) 4 ATAAGCAATGCAGTCTCCCTA 0.378000 4 19 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223438146 223438146 + Missense_Mutation SNP G G T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:223438146G>T ENST00000343846.3 - 4 1183 c.550C>A c.(550-552)Cta>Ata p.L184I SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I|SUSD4_ENST00000478605.1_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 184 Sushi 3. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GAAGAGGCTAGAGGTCTCAGG 0.468000 33 44 6.00712e-18 6.42141e-18 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 33 0 0 1 0 0 FAM86B3P 286042 broad.mit.edu 37 8 8095843 8095843 + RNA SNP C C T rs62495078 TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr8:8095843C>T ENST00000523017.1 - 0 608 GAAGAGCAGACACTGCCATGG 0.602000 5 33 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32058106 32058106 + Silent SNP G G C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr5:32058106G>C ENST00000438447.1 + 12 2485 c.2097G>C c.(2095-2097)ggG>ggC p.G699G PDZD2_ENST00000282493.3_Silent_p.G699G O15018 PDZD2_HUMAN PDZ domain containing 2 699 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ATACCAGTGGGGGAGCCTCAG 0.572000 9 28 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37041349 37041349 + Missense_Mutation SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:37041349G>A ENST00000379242.3 + 16 2229 c.1927G>A c.(1927-1929)Gtt>Att p.V643I VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 628 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TGCGATAGGCGTTGCCTGGGC 0.512000 11 41 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940429 22940429 + Missense_Mutation SNP C C G TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr19:22940429C>G ENST00000397104.3 - 5 2008 c.2009G>C c.(2008-2010)tGc>tCc p.C670S ZNF99_ENST00000596209.1_Missense_Mutation_p.C761S zinc finger protein 99 p.C670S(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTCACATTTGCAGGGTTTCTC 0.358000 3 60 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79862805 79862805 + Silent SNP C C T TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:79862805C>T ENST00000538936.2 - 13 1182 c.1074G>A c.(1072-1074)gcG>gcA p.A358A PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000570388.1_Silent_p.A280A|PCYT2_ENST00000570391.1_Silent_p.A326A NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 358 phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCTGGTTTCGCGCCTCATACT 0.647000 3 29 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224340859 224340859 + Missense_Mutation SNP T T C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:224340859T>C ENST00000366862.5 + 4 575 c.532T>C c.(532-534)Tat>Cat p.Y178H FBXO28_ENST00000424254.2_Intron NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 178 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TGATGAGATTTATCGTGTGTT 0.343000 47 40 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20073282 20073282 + Translation_Start_Site SNP T T G TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr22:20073282T>G ENST00000351989.3 + 0 225 DGCR8_ENST00000383024.2_De_novo_Start_OutOfFrame|MIR3618_ENST00000580330.1_RNA NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GCTGAGTGCATTGTGATTTCC 0.463000 7 14 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171710489 171710489 + Missense_Mutation SNP G G A TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:171710489G>A ENST00000358196.3 + 14 1920 c.1370G>A c.(1369-1371)cGc>cAc p.R457H NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 457 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGTGTGGCCGCCACGTGGAT 0.488000 3 35 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17085078 17085078 + RNA SNP T T C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:17085078T>C ENST00000455405.2 - 0 110 AAACTGCACCTGGTCTGTAGG 0.612000 7 12 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223438145 223438145 + Missense_Mutation SNP A A C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:223438145A>C ENST00000343846.3 - 4 1184 c.551T>G c.(550-552)cTa>cGa p.L184R SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R|SUSD4_ENST00000478605.1_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 184 Sushi 3. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AGAAGAGGCTAGAGGTCTCAG 0.463000 31 44 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1564560 1564560 + Frame_Shift_Del DEL G G - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:1564560delG ENST00000357210.4 + 17 2640 c.2424delG c.(2422-2424)gcfs p.A809fs MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 809 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGGTGGGCGCGGCGGTCGCCT 0.776 2 4 --- --- --- --- C1orf27 54953 broad.mit.edu 37 1 186363120 186363121 + Frame_Shift_Del DEL TT TT - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr1:186363120_186363121delTT ENST00000287859.6 + 9 878_879 c.753_754delTT c.(751-756)tcttfs p.SF251fs C1orf27_ENST00000419367.3_Frame_Shift_Del_p.SF219fs|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron NM_017847.5 NP_060317.3 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 251 S -> C (in dbSNP:rs12084264). integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 CTAGTCATTCTTTTGATGTCAG 0.277 2 4 --- --- --- --- IMMT 10989 broad.mit.edu 37 2 86397875 86397875 + Frame_Shift_Del DEL C C - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr2:86397875delC ENST00000410111.3 - 6 1039 c.652delG c.(652-654)agfs p.E218fs IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000490238.1_5'UTR NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 218 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TACATACACTCAATTTTAACT 0.423 2 4 --- --- --- --- TRBV6-5 28602 broad.mit.edu 37 7 142180822 142180824 + RNA DEL AGA AGA - rs146925843 by1000genomes TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr7:142180822_142180824delAGA ENST00000390368.2 - 0 115 GCAGAGAAGGAGAACAAAGCTGA 0.562 8 95 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144874553 144874554 + Frame_Shift_Ins INS - - C rs6991873 by1000genomes TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr8:144874553_144874554insC ENST00000356994.2 - 32 4356_4357 c.4350_4351insG c.(4348-4353)ccccctfs p.PP1450fs SCRIB_ENST00000320476.3_Frame_Shift_Ins_p.PP1450fs|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.PP1369fs NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1450 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCTCCCAGGGGTGGGGGGGACG 0.752 2 4 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 7 106 --- --- --- --- LRRC75A-AS1 125144 broad.mit.edu 37 17 16344167 16344167 + RNA DEL A A - rs10587316 TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:16344167delA ENST00000475953.1 + 0 483 C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA NR_027667.1 actccatctcaaaaaaaaaaa 0.413 3 3 --- --- --- --- LRRC45 201255 broad.mit.edu 37 17 79981565 79981565 + Frame_Shift_Del DEL G G - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr17:79981565delG ENST00000306688.3 + 1 388 c.46delG c.(46-48)ggfs p.G16fs LRRC45_ENST00000583383.1_3'UTR NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 16 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAGGGAGAGTGGGGCCGAGCC 0.711 2 4 --- --- --- --- TLE2 7089 broad.mit.edu 37 19 3028803 3028804 + Splice_Site INS - - G TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr19:3028803_3028804insG ENST00000262953.6 - 2 287 c.e2-2 TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000591529.1_Splice_Site NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTGT 0.624 7 125 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3510ad36-e4f3-41f5-a5e3-1b56771b5180 9a540ad9-c71c-4557-9157-b18b25339958 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 8 127 --- --- --- ---