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 HLA-DRB6 0 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 2 3 1.23904e-05 1.45145e-05 1 1 0 MLLT1 4298 broad.mit.edu 37 19 6230647 6230647 + Silent SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr19:6230647G>A ENST00000252674.7 - 4 517 c.354C>T c.(352-354)cgC>cgT p.R118R NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 118 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 GCTTCTCGCAGCGCAGGTGGT 0.632000 T MLL AL 3 97 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61309020 61309020 + Missense_Mutation SNP C C T TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr18:61309020C>T ENST00000341074.5 - 4 440 c.325G>A c.(325-327)Gga>Aga p.G109R SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 p.G109*(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 GTCTTTTCTCCGAAGAGCTTG 0.413000 74 116 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 16 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30915131 30915131 + Silent SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr10:30915131G>A ENST00000375318.2 - 3 395 c.339C>T c.(337-339)gaC>gaT p.D113D NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 67 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CGATGCTGCCGTCATCCAGGA 0.587000 24 53 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58806382 58806382 + Missense_Mutation SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr19:58806382G>A ENST00000196548.5 + 4 1339 c.1208G>A c.(1207-1209)gGg>gAg p.G403E AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AACCACTGCGGGAAGGGCTTC 0.602000 3 129 0 0 1 0 0 RAD51 5888 broad.mit.edu 37 15 41022057 41022057 + Missense_Mutation SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr15:41022057G>A ENST00000267868.3 + 9 1049 c.781G>A c.(781-783)Gta>Ata p.V261I RAD51_ENST00000423169.2_Intron|RAD51_ENST00000557850.1_Missense_Mutation_p.V164I|RAD51_ENST00000532743.1_Missense_Mutation_p.V262I|RAD51_ENST00000382643.3_Missense_Mutation_p.V262I|RAD51_ENST00000530766.1_Intron NM_002875.4 NP_002866.2 Q06609 RAD51_HUMAN RAD51 recombinase 261 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) TCAGTTTGGTGTAGCAGTGGT 0.443000 Homologous recombination 3 93 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543133 14543133 + Missense_Mutation SNP C C A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr18:14543133C>A ENST00000358970.5 - 1 12 c.13G>T c.(13-15)Gtt>Ttt p.V5F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 5 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 ATTGAACAAACCTCAGTCACC 0.552000 31 52 1.465e-08 1.76662e-08 1 1 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 3 50 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713931 142713931 + RNA SNP T T A rs75994571 by1000genomes TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr1:142713931T>A ENST00000369381.2 - 0 674 AAATAACATATCATGATTACC 0.303000 6 22 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087277 49087277 + Missense_Mutation SNP T T C TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr12:49087277T>C ENST00000261900.3 - 9 1942 c.1720A>G c.(1720-1722)Agg>Ggg p.R574G NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 574 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GAGGGTCCCCTTTTACGAGTA 0.443000 3 141 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50435928 50435928 + Missense_Mutation SNP T T C TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr19:50435928T>C ENST00000423777.2 + 3 805 c.428T>C c.(427-429)cTg>cCg p.L143P ATF5_ENST00000595125.1_Missense_Mutation_p.L143P|CTC-326K19.6_ENST00000451973.1_Intron NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 143 Interaction with PTP4A1 (By similarity). regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCCCTCCCCCTGTCCCTCCCC 0.657000 6 20 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121179063 121179063 + Missense_Mutation SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr3:121179063G>A ENST00000264233.5 - 25 7114 c.6986C>T c.(6985-6987)gCt>gTt p.A2329V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2329 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AGAGTAGTCAGCAGCCAGTAT 0.393000 DNA polymerases (catalytic subunits) 3 67 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50170383 50170383 + Missense_Mutation SNP C C G TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr19:50170383C>G ENST00000246785.3 + 3 725 c.467C>G c.(466-468)tCt>tGt p.S156C BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 156 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CGGCCTTGCTCTCTGCCCATC 0.567000 20 343 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 31 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 57 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36088676 36088676 + Missense_Mutation SNP A A G TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr21:36088676A>G ENST00000360731.3 + 7 2011 c.2011A>G c.(2011-2013)Aga>Gga p.R671G CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 671 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TGGCATCTGGAGATACTTGAA 0.363000 6 93 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44470887 44470887 + Missense_Mutation SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr18:44470887G>A ENST00000585916.1 - 2 154 c.155C>T c.(154-156)gCg>gTg p.A52V PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V|PIAS2_ENST00000545673.1_Intron NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 52 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 AATCTGAACCGCAGGGCTGCA 0.448000 3 53 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61310686 61310686 + Silent SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr18:61310686G>A ENST00000341074.5 - 2 241 c.126C>T c.(124-126)ctC>ctT p.L42L SERPINB4_ENST00000356424.6_Silent_p.L42L NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TGGCTCCTAAGAGGACCATCC 0.433000 3 149 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6500762 6500762 + Missense_Mutation SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr1:6500762G>A ENST00000377828.1 + 4 920 c.752G>A c.(751-753)gGc>gAc p.G251D NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 251 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCGAGCCGCGGCCACACCAAG 0.726000 3 6 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94129622 94129622 + Silent SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr11:94129622G>A ENST00000243673.2 - 2 627 c.456C>T c.(454-456)taC>taT p.Y152Y GPR83_ENST00000539203.2_Intron NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 152 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCAGTGAGCAGTACTGGGCAA 0.552000 3 117 0 0 1 0 0 IGHG1 0 broad.mit.edu 37 14 106204137 106204137 + RNA SNP T T C TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr14:106204137T>C ENST00000390548.2 - 0 1161 TAGTCGGGGATGATGGTCTGC 0.657000 3 135 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106236827 106236827 + RNA SNP G G T TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr14:106236827G>T ENST00000390551.2 - 0 380 CCTGGGCACCGTGGGCACGGG 0.637000 4 195 0.000602214 0.000667319 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228882979 228882979 + Missense_Mutation SNP G G A rs145565567 TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr2:228882979G>A ENST00000392056.3 - 7 2637 c.2591C>T c.(2590-2592)aCg>aTg p.T864M SPHKAP_ENST00000344657.5_Missense_Mutation_p.T864M NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 864 cytoplasm protein binding p.T864M(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGGCTGACCGTTGGGGACCT 0.483000 4 157 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 4 28 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7032081 7032081 + Missense_Mutation SNP C C T TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr4:7032081C>T ENST00000409757.4 + 14 2168 c.2044C>T c.(2044-2046)Cgg>Tgg p.R682W TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 682 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 GAAAGACAGCCGGGAAATGGA 0.577000 29 58 0 0 1 0 0 TRAF1 7185 broad.mit.edu 37 9 123673658 123673658 + Missense_Mutation SNP C C A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr9:123673658C>A ENST00000373887.3 - 6 3284 c.839G>T c.(838-840)tGc>tTc p.C280F TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F|TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 280 MATH. apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 CGACTCATGGCACCGCCTGGT 0.637000 3 37 0.004672 0.00504084 1 1 0 KRT32 3882 broad.mit.edu 37 17 39623409 39623409 + Missense_Mutation SNP G G A rs141134486 byFrequency TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr17:39623409G>A ENST00000225899.3 - 1 272 c.169C>T c.(169-171)Cgg>Tgg p.R57W NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 57 Head. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CTGGCTGGCCGGAAGGTGGTG 0.652000 3 95 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58196559 58196559 + Silent SNP G G A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr3:58196559G>A ENST00000483681.1 - 3 656 c.75C>T c.(73-75)tcC>tcT p.S25S DNASE1L3_ENST00000394549.2_Silent_p.S25S|DNASE1L3_ENST00000318316.3_Silent_p.S25S|DNASE1L3_ENST00000486455.1_Silent_p.S25S Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 25 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TGACGTTGAAGGAGCAGATCC 0.577000 4 166 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87153698 87153698 + Nonsense_Mutation SNP C C A TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr8:87153698C>A ENST00000285393.3 + 4 643 c.501C>A c.(499-501)tgC>tgA p.C167* CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 167 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TCCAAGACTGCATGTCTGAAA 0.348000 3 85 0.014758 0.0151269 1 1 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 2 4 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 3 5 --- --- --- --- RP11-291L22.4 0 broad.mit.edu 37 10 38742888 38742888 + RNA DEL C C - TCGA-FY-A3WA-01A-11D-A22D-08 TCGA-FY-A3WA-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6c94a2f-7b2f-4067-9d0b-7606c893f9e9 2184c4d7-dcda-4c5d-ae4e-ee823a887d79 g.chr10:38742888delC ENST00000428915.2 + 0 350 TCAGGATCTGCCCCCCGGGTG 0.617 2 4 --- --- --- ---