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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 392 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955885 57955885 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:57955885C>G ENST00000334181.4 + 3 1619 c.1369C>G c.(1369-1371)Cag>Gag p.Q457E AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q457E(1)|p.Q370E(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGTTCAGCACCAGAAAATCCA 0.423000 6 549 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528640 157528640 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:157528640G>A ENST00000346085.5 + 20 6366 c.6365G>A c.(6364-6366)cGc>cAc p.R2122H ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104H|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109H NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2109 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GTTGGGGATCGCAAAAACCCA 0.493000 8 1198 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29976918 29976918 + RNA SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:29976918G>A ENST00000376797.3 - 0 761 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TTTTCTTCCCGCAGATAGAAA 0.522000 8 378 0 0 1 0 0 LCE2B 26239 broad.mit.edu 37 1 152659492 152659492 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:152659492C>T ENST00000368780.3 + 2 227 c.173C>T c.(172-174)cCc>cTc p.P58L LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 58 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTGGTCCCAGCTCTGGG 0.667000 39 1071 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103629732 103629732 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:103629732G>A ENST00000428762.1 - 1 231 c.72C>T c.(70-72)cgC>cgT p.R24R RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000424685.2_Silent_p.R24R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 24 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGCCGCCGCGCGCGCCCTCA 0.711000 5 151 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47918690 47918690 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr21:47918690C>T ENST00000318711.7 + 5 782 c.599C>T c.(598-600)aCg>aTg p.T200M DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000417564.2_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 200 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTGCAGCCACGCCGGGGGCC 0.667000 12 226 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 13 53 0 0 1 0 0 CBLN1 869 broad.mit.edu 37 16 49315201 49315201 + Missense_Mutation SNP C C A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:49315201C>A ENST00000219197.6 - 1 541 c.176G>T c.(175-177)aGc>aTc p.S59I CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 59 C1q. nervous system development|synaptic transmission cell junction|extracellular region|synapse breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(37;0.0766)|all_lung(18;0.24) CACCTTGGCGCTGCCAGAGCG 0.617000 16 204 1.5739e-10 1.65088e-10 1 1 0 PAPOLB 56903 broad.mit.edu 37 7 4899881 4899881 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:4899881C>T ENST00000404991.1 - 1 1744 c.1558G>A c.(1558-1560)Gac>Aac p.D520N RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 520 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAGCTGCTGTCGTTCAAATCT 0.458000 17 377 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063541 58063541 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:58063541G>A ENST00000339762.6 - 1 74 c.75C>T c.(73-75)tgC>tgT p.C25C SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGATATACCGCAAAGCCCAT 0.418000 5 173 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26703112 26703112 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:26703112C>T ENST00000272371.2 - 16 1997 c.1871G>A c.(1870-1872)cGg>cAg p.R624Q OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 624 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.R624L(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGTTTCTCCGGTCGATCAT 0.577000 10 319 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145979904 145979904 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:145979904C>T ENST00000394413.3 - 7 1480 c.910G>A c.(910-912)Gtc>Atc p.V304I PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 304 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGACTTTGACGGTCAAGTAG 0.458000 15 496 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7832511 7832511 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:7832511C>T ENST00000327325.5 + 6 1164 c.1046C>T c.(1045-1047)cCc>cTc p.P349L CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 349 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CCTCTGTCACCCAGGTAGATT 0.577000 6 264 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 179 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140516722 140516722 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:140516722C>T ENST00000231134.5 + 1 1923 c.1706C>T c.(1705-1707)gCg>gTg p.A569V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 569 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACGGCTCGGCGCCTTGCACC 0.721000 11 310 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102749891 102749891 + Missense_Mutation SNP A A T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:102749891A>T ENST00000361847.2 - 2 277 c.46T>A c.(46-48)Tct>Act p.S16T MOK_ENST00000524214.1_Missense_Mutation_p.S16T|MOK_ENST00000522874.1_Missense_Mutation_p.S16T|MOK_ENST00000193029.6_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 16 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ATAACTTCAGAAAACGTTCCC 0.348000 16 313 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156626767 156626767 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:156626767G>A ENST00000329117.4 + 10 2424 c.2088G>A c.(2086-2088)caG>caA p.Q696Q BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 696 C-type lectin. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACGCCTTCCAGGGCGCCTGCT 0.657000 8 259 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48388219 48388219 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:48388219C>T ENST00000380518.3 - 12 968 c.804G>A c.(802-804)ccG>ccA p.P268P COL2A1_ENST00000337299.6_Silent_p.P199P NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 268 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.P199P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GAGGACCAGGCGGACCCCTTT 0.557000 5 272 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31447601 31447601 + Missense_Mutation SNP A A C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:31447601A>C ENST00000373747.3 - 10 1505 c.1406T>G c.(1405-1407)gTc>gGc p.V469G PUM1_ENST00000440538.2_Missense_Mutation_p.V469G|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000257075.5_Missense_Mutation_p.V468G NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 468 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GGCAGGGTAGACTCCCCAGGG 0.512000 4 139 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:71238615G>A ENST00000398536.4 + 1 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 9 812 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678736 37678736 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:37678736G>A ENST00000379800.3 - 1 1067 c.658C>T c.(658-660)Ccg>Tcg p.P220S NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 220 Protein kinase. P -> L (in dbSNP:rs56252856). Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CCTTGCCACGGCAGGCTGGTT 0.418000 5 469 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884216 228884216 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:228884216C>T ENST00000392056.3 - 7 1400 c.1354G>A c.(1354-1356)Gtt>Att p.V452I SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 452 cytoplasm protein binding p.V452I(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) CTCTGAACAACGACGATTTTG 0.507000 12 341 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239037 3239037 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:3239037G>A ENST00000217939.6 - 5 4843 c.4689C>T c.(4687-4689)tcC>tcT p.S1563S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1563 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATCCTGGTCGGAAGAGGGTG 0.453000 27 441 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176666 140176666 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:140176666C>T ENST00000526136.1 + 1 2117 c.2117C>T c.(2116-2118)gCg>gTg p.A706V PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V NM_018905.2 NP_061728.1 p.A706V(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCATCTGCGCGGTATCCAGC 0.692000 17 530 0 0 1 0 0 ZNF526 116115 broad.mit.edu 37 19 42730124 42730124 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:42730124G>A ENST00000301215.3 + 3 1794 c.1569G>A c.(1567-1569)acG>acA p.T523T NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) TGACCCATACGGGTGCACGTC 0.617000 25 230 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 7 442 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360516 16360516 + Nonsense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:16360516G>A ENST00000354981.2 - 19 2288 c.2131C>T c.(2131-2133)Cga>Tga p.R711* KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 711 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCTTTGAGTCGTTGGAGTTCT 0.443000 13 514 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121203161 121203161 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:121203161G>A ENST00000392870.2 + 12 1492 c.1163G>A c.(1162-1164)cGc>cAc p.R388H GRK5_ENST00000369108.3_Missense_Mutation_p.R283H NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 388 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TTCCGCGGCCGCAAGGAGAAG 0.632000 5 231 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171209 214171209 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:214171209G>A ENST00000366958.4 + 2 1939 c.1331G>A c.(1330-1332)cGc>cAc p.R444H PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 444 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTGGTTGTCCGCAAAAACTCC 0.627000 6 362 0 0 1 0 0 RAET1G 353091 broad.mit.edu 37 6 150240886 150240886 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:150240886G>A ENST00000367360.2 - 2 219 c.152C>T c.(151-153)gCg>gTg p.A51V RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 51 MHC class I alpha-1 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) GCCTTGAACCGCACACCACCG 0.532000 5 540 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82372825 82372825 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:82372825G>A ENST00000370728.1 + 6 842 c.197G>A c.(196-198)cGg>cAg p.R66Q LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q O95490 LPHN2_HUMAN latrophilin 2 66 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AACTATGGTCGGACGGATGAC 0.453000 16 510 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 245 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 417 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161020531 161020531 + Splice_Site SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:161020531C>T ENST00000447678.1 - 21 3408 c.e21+1 LPA_ENST00000316300.5_Splice_Site NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAAAGACGTACGCATTTGGGT 0.483000 56 1687 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956104 57956104 + Missense_Mutation SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:57956104G>C ENST00000334181.4 + 3 1838 c.1588G>C c.(1588-1590)Gag>Cag p.E530Q AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AGTTCAGCATGAGAAAATCCA 0.448000 6 543 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33243666 33243666 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr18:33243666C>G ENST00000269195.5 + 2 317 c.214C>G c.(214-216)Caa>Gaa p.Q72E GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E|GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 72 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 TAAAGAGGATCAAGAAAAGAT 0.373000 7 240 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938810 76938810 + Silent SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:76938810T>C ENST00000373344.5 - 9 2152 c.1938A>G c.(1936-1938)ttA>ttG p.L646L ATRX_ENST00000395603.3_Silent_p.L608L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 646 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CCTCTAAAAGTAATGAAACTT 0.403000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 48 817 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38989876 38989876 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:38989876C>T ENST00000355481.4 + 43 7151 c.7020C>T c.(7018-7020)ttC>ttT p.F2340F RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2340 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTGCTGTCTTCGTCAACGGTG 0.602000 12 432 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34164425 34164425 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:34164425G>A ENST00000373381.4 - 24 4029 c.3853C>T c.(3853-3855)Cgg>Tgg p.R1285W CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R158W NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1245 CUB 8. integral to membrane|plasma membrane protein binding p.R1245W(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCACTACCCCGCAGGCTGTAT 0.602000 9 358 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481251 142481251 + RNA SNP A A C rs140137372 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:142481251A>C ENST00000603901.1 + 0 325 NR_001296.3 CAATGACATCATGCTGATCAA 0.522000 10 129 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75478338 75478338 + RNA SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:75478338T>C ENST00000459803.1 - 0 327 NR_024241.1 TCAGGGTCTCTGCCAGTGCCT 0.557000 5 123 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36168477 36168477 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:36168477G>A ENST00000274255.6 + 5 795 c.599G>A c.(598-600)gGc>gAc p.G200D SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 200 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding p.G200D(2) breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCCTCCACGGCATACTGTCT 0.507000 6 923 0 0 1 0 0 STARD7 56910 broad.mit.edu 37 2 96873900 96873900 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:96873900C>T ENST00000337288.5 - 1 656 c.273G>A c.(271-273)caG>caA p.Q91Q NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 91 mitochondrion endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 ACTCCTCCTCCTGGATCCTCT 0.697000 14 187 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481317 142481317 + RNA SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:142481317G>A ENST00000603901.1 + 0 391 NR_001296.3 TCTGCCCACTGCCCCTCCAGC 0.547000 6 79 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 243 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39262608 39262608 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:39262608G>A ENST00000280481.7 + 1 1343 c.1127G>A c.(1126-1128)cGc>cAc p.R376H NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 376 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACCGATGATCGCAGCCTGCCC 0.572000 19 376 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361395 83361395 + Missense_Mutation SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:83361395G>T ENST00000262752.2 - 15 1350 c.1343C>A c.(1342-1344)aCc>aAc p.T448N RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N|RPS6KA6_ENST00000495332.1_5'UTR NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 448 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTCCATGTTGGTAGTTGCATG 0.363000 12 91 0.000978159 0.000988401 1 1 0 HERC2 8924 broad.mit.edu 37 15 28391388 28391388 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:28391388C>T ENST00000261609.7 - 71 11111 c.11003G>A c.(11002-11004)cGg>cAg p.R3668Q NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3668 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTACCTGACCGCACGGAGAC 0.557000 9 226 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600638 179600638 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:179600638G>A ENST00000589042.1 - 50 14759 c.14535C>T c.(14533-14535)gaC>gaT p.D4845D TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D3601D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.D4528D|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4528 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTTTCTGCGTCGGAAATCC 0.443000 8 314 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41456786 41456786 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:41456786G>A ENST00000396987.3 + 2 1055 c.128G>A c.(127-129)cGc>cAc p.R43H NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 43 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity p.R43H(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TTTGGTATCCGCAAACTCTAC 0.433000 5 557 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42937897 42937897 + Missense_Mutation SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:42937897A>G ENST00000426333.2 - 17 1919 c.1622T>C c.(1621-1623)gTg>gCg p.V541A EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 541 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) AACACGGTTCACCTCGATGTG 0.433000 35 373 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125058136 125058136 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:125058136C>T ENST00000522917.1 + 21 2924 c.2718C>T c.(2716-2718)gaC>gaT p.D906D FER1L6_ENST00000399018.1_Silent_p.D906D NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 906 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATGACAGCGACGCTGTGGTGA 0.507000 35 517 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355998 114355998 + RNA SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:114355998C>G ENST00000538033.2 + 0 2178 CCAAGGTGGGCACTTGATGTC 0.612000 5 34 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010223 59010223 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:59010223C>T ENST00000263093.2 - 9 1934 c.1825G>A c.(1825-1827)Ggg>Agg p.G609R SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000599700.1_Intron NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 609 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AACTTCTCCCCGTCGAAAGTC 0.627000 4 278 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481316 142481316 + RNA SNP T T C rs140068138 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:142481316T>C ENST00000603901.1 + 0 390 NR_001296.3 CTCTGCCCACTGCCCCTCCAG 0.547000 6 78 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420045 167420045 + Silent SNP G G A rs146310303 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:167420045G>A ENST00000519204.1 + 4 799 c.681G>A c.(679-681)ccG>ccA p.P227P TENM2_ENST00000520394.1_Silent_p.P157P|TENM2_ENST00000545108.1_Silent_p.P348P|TENM2_ENST00000518659.1_Silent_p.P348P|TENM2_ENST00000403607.2_Silent_p.P181P teneurin transmembrane protein 2 p.P227P(1)|p.P348P(1)|p.P181P(1) ACACGCCCCCGCCCCGCCTGC 0.582000 11 332 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 6 785 0.00198382 0.00199415 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 251 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41146275 41146275 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:41146275C>T ENST00000344051.4 + 6 1213 c.979C>T c.(979-981)Cgc>Tgc p.R327C SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 327 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CATGGAAAGGCGCCATCCAGG 0.587000 5 526 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 5 62 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 693 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 6 647 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86839366 86839366 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:86839366C>T ENST00000237455.4 - 3 1366 c.398G>A c.(397-399)gGc>gAc p.G133D RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 133 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GTGAATTTTGCCCACCAAGGG 0.388000 5 382 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 6 903 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1542704 1542704 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:1542704G>A ENST00000389470.4 - 4 565 c.566C>T c.(565-567)gCg>gTg p.A189V INTS1_ENST00000404767.3_Missense_Mutation_p.A61V Q8N201 INT1_HUMAN integrator complex subunit 1 61 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGCGGCCGCCGCATCCCGCTT 0.657000 6 439 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466221 10466221 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:10466221C>T ENST00000382483.3 - 4 5610 c.5387G>A c.(5386-5388)gGc>gAc p.G1796D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1796 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCACTTATGCCCTCTCCCTC 0.572000 6 794 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78351573 78351573 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:78351573G>A ENST00000582970.1 + 54 13665 c.13522G>A c.(13522-13524)Ggc>Agc p.G4508S RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGTCCCAACGGCCATCCTTG 0.532000 44 618 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160233331 160233331 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:160233331C>G ENST00000334256.4 - 12 1246 c.941G>C c.(940-942)gGa>gCa p.G314A NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 314 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTCATCAGTTCCAGTAACAAT 0.383000 19 469 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587000 5 386 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092197 35092197 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:35092197C>G ENST00000378617.3 - 7 2081 c.1687G>C c.(1687-1689)Gat>Cat p.D563H PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 563 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACAAAACTATCAGAGAAGAAC 0.597000 16 301 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544636 186544636 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr4:186544636G>A ENST00000431808.1 - 14 2498 c.1935C>T c.(1933-1935)caC>caT p.H645H SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 645 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.H645H(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggtggtggtggtgatggtggt 0.527000 4 228 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328647 88328647 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:88328647G>A ENST00000325089.6 + 2 1223 c.1004G>A c.(1003-1005)cGc>cAc p.R335H SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 335 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AAGGGGACTCGCCAACCCAAC 0.582000 6 437 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33291760 33291760 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:33291760C>T ENST00000373475.5 + 3 314 c.60C>T c.(58-60)gaC>gaT p.D20D S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Silent_p.D20D NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 20 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGCCTAAAGACGGTGCCCCAT 0.458000 5 484 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132432935 132432935 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:132432935G>A ENST00000304858.2 + 15 2175 c.1886G>A c.(1885-1887)aGa>aAa p.R629K NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 629 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TATGAAATGAGAGACAAGCTT 0.393000 14 503 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45234401 45234401 + Missense_Mutation SNP A A C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:45234401A>C ENST00000066544.3 - 7 813 c.720T>G c.(718-720)atT>atG p.I240M CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 240 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TATCAGGTGAAATTACAGCTG 0.358000 4 259 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14608915 14608915 + Missense_Mutation SNP T T C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:14608915T>C ENST00000274217.3 + 7 806 c.686T>C c.(685-687)cTt>cCt p.L229P NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 229 p.S231fs*13(1) large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TGCAACACCCTTTTTTCAGAT 0.328000 5 334 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122334762 122334762 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:122334762G>A ENST00000398250.1 + 6 917 c.565G>A c.(565-567)Gcc>Acc p.A189T PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000496437.1_3'UTR NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 189 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CTTGTACTGCGCCATGATGAT 0.607000 15 320 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55504238 55504238 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:55504238C>T ENST00000474267.1 - 6 1546 c.1025G>A c.(1024-1026)cGt>cAt p.R342H WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H|WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 342 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GTCGTAGCCACGGCCGCAGCA 0.632000 11 435 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431076 37431076 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:37431076C>T ENST00000374660.1 + 7 1182 c.1083C>T c.(1081-1083)atC>atT p.I361I ANKRD30A_ENST00000602533.1_Silent_p.I361I|ANKRD30A_ENST00000361713.1_Silent_p.I361I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 417 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTAGGAAGATCGCATGGGAGA 0.393000 17 434 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 5 769 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44254126 44254126 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:44254126C>T ENST00000371505.4 - 3 543 c.421G>A c.(421-423)Gtg>Atg p.V141M TCTE1_ENST00000371503.3_De_novo_Start_InFrame|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 141 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACGTGGCACACGGGCCAGCGA 0.607000 5 328 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 11 1061 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651364 117651364 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:117651364C>T ENST00000321322.6 - 2 389 c.388G>A c.(388-390)Gtg>Atg p.V130M DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 70 Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGTGCGGCACGTCGTAGATG 0.652000 15 548 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105167200 105167200 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:105167200C>T ENST00000428173.2 + 18 3007 c.2704C>T c.(2704-2706)Cgg>Tgg p.R902W NRK_ENST00000243300.9_Missense_Mutation_p.R901W Q7Z2Y5 NRK_HUMAN Nik related kinase 901 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TGAAATCTTCCGGAATGATTG 0.438000 HNSCC(51;0.14) 18 253 0 0 1 0 0 HDGFRP2 0 broad.mit.edu 37 19 4499495 4499495 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:4499495G>A ENST00000301284.4 + 14 1647 c.1583G>A c.(1582-1584)cGt>cAt p.R528H HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 528 transcription, DNA-dependent nucleus DNA binding|protein binding CAGATTCGCCGTTACAAAGCG 0.622000 6 140 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092359 35092359 + Missense_Mutation SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:35092359C>G ENST00000378617.3 - 7 1919 c.1525G>C c.(1525-1527)Gat>Cat p.D509H PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 509 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGCACTAGATCTAGCTTCAGC 0.587000 28 379 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921002 1921002 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:1921002C>T ENST00000399161.2 - 11 2340 c.1593G>A c.(1591-1593)ccG>ccA p.P531P MYT1L_ENST00000428368.2_Silent_p.P529P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 531 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P531P(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCTTTGTGCGGGCATCCGG 0.562000 7 759 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:5129756A>G ENST00000588623.1 + 10 1676 c.576A>G c.(574-576)gaA>gaG p.E192E ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 303 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.E303E(3) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.443000 5 611 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28261707 28261707 + Missense_Mutation SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:28261707G>C ENST00000373894.3 + 1 204 c.13G>C c.(13-15)Gcc>Ccc p.A5P SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 5 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GAGGCTGCTCGCCTGGCTGAT 0.547000 8 159 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88930319 88930319 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:88930319C>T ENST00000298786.4 + 5 1832 c.1718C>T c.(1717-1719)cCg>cTg p.P573L FAM35A_ENST00000298784.1_Missense_Mutation_p.P573L Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 573 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GATCTTCCTCCGAGGCAGCCT 0.418000 12 556 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41419082 41419082 + Missense_Mutation SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:41419082A>G ENST00000551295.2 + 21 2771 c.2654A>G c.(2653-2655)aAt>aGt p.N885S CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 885 Fibronectin type-III 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GGGGCCTGCAATAGTGCAGGG 0.483000 67 950 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476061 27476061 + Missense_Mutation SNP G G A rs149738247 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:27476061G>A ENST00000356183.4 - 34 5467 c.5452C>T c.(5452-5454)Cgg>Tgg p.R1818W GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1818 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCTTTCAGCCGCACGGAGTGC 0.672000 5 214 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135621024 135621024 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:135621024C>T ENST00000356140.5 + 5 445 c.309C>T c.(307-309)acC>acT p.T103T ACMSD_ENST00000392928.1_Silent_p.T45T|ACMSD_ENST00000283054.4_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 103 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TTGCCAGCACCGTTGTGAGCT 0.562000 36 400 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19330065 19330065 + Missense_Mutation SNP C C T rs149283619 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:19330065C>T ENST00000252575.5 + 3 458 c.415C>T c.(415-417)Cgc>Tgc p.R139C NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 139 Ig-like V-type. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TGGGCTGTACCGCTGCCAGGT 0.677000 4 62 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176604 140176604 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:140176604C>T ENST00000526136.1 + 1 2055 c.2055C>T c.(2053-2055)ggC>ggT p.G685G PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA2_ENST00000378132.1_Silent_p.G685G NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGGTGGGCGCCGCGGGCT 0.642000 15 483 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142409703 142409703 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:142409703C>T ENST00000258042.1 - 1 233 c.93G>A c.(91-93)ccG>ccA p.P31P RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 31 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CGTCCGAGGCCGGCAGGAAAT 0.607000 4 172 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 116 0 0 1 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159818912 159818912 + RNA SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:159818912G>A ENST00000497452.1 - 0 517 aaaaagaagCGAGATCGAGAC 0.483000 17 1085 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564583 33564583 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:33564583G>A ENST00000321505.4 + 1 763 c.583G>A c.(583-585)Gca>Aca p.A195T KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A195T|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A195T KIAA1549-like GGCGGTTCCCGCATCACCATC 0.562000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 676 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47618423 47618423 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:47618423G>A ENST00000383738.2 - 2 3191 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W|CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 365 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCGTTATGCCGCACAAAGCCA 0.632000 6 564 0 0 1 0 0 TDGF1P3 0 broad.mit.edu 37 X 109764525 109764525 + RNA SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:109764525G>A ENST00000602699.1 + 0 986 NR_002718.2 CCCAGGAGGAGCCTGCAATTC 0.572000 12 147 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640105 176640105 + Splice_Site SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:176640105G>T ENST00000367662.3 + 4 3155 c.e4-1 PAPPA2_ENST00000367661.3_Splice_Site NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 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 ATGCTCTCTAGGGCATACATG 0.483000 20 804 5.26018e-13 5.54762e-13 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 245 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 16 52 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 44 91 8.48111e-28 9.09363e-28 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 7 292 0 0 1 0 0 IGHV4-34 0 broad.mit.edu 37 14 106829621 106829621 + RNA SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:106829621C>T ENST00000390616.2 - 0 372 CAGCCGTGTCCGCGGCGGTCA 0.587000 6 978 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956970 54956970 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:54956970C>T ENST00000173898.7 + 12 3925 c.3813C>T c.(3811-3813)ggC>ggT p.G1271G TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G802G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.G874G NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1271 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCTTCAGTGGCGGACTGGGCA 0.602000 32 177 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 5 477 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90453401 90453401 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:90453401G>A ENST00000369393.3 - 30 4326 c.4211C>T c.(4210-4212)gCa>gTa p.A1404V MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1404 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGCCAAGGCTGCAAATACCTG 0.463000 6 642 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57955884 57955884 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:57955884C>T ENST00000334181.4 + 3 1618 c.1368C>T c.(1366-1368)caC>caT p.H456H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H369H(1)|p.H456H(1) breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCACCAGAAAATCC 0.423000 6 551 0 0 1 0 0 ZDHHC1 29800 broad.mit.edu 37 16 67432126 67432126 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:67432126G>A ENST00000348579.2 - 8 1257 c.916C>T c.(916-918)Cgg>Tgg p.R306W NM_013304.2 NP_037436.1 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 306 integral to membrane DNA binding|zinc ion binding p.R306W(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1) 10 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) TGAATGGGCCGCATCTTGGGA 0.627000 5 474 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191932 152191932 + Missense_Mutation SNP C C T rs143281072 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:152191932C>T ENST00000368801.2 - 3 2248 c.2173G>A c.(2173-2175)Ggc>Agc p.G725S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 725 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGTAGCCGGAGGAGTGA 0.547000 5 961 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924812 70924812 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:70924812C>T ENST00000603540.1 + 2 854 c.596C>T c.(595-597)tCt>tTt p.S199F RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 199 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAACCAAAATCTGCTGGTGAC 0.448000 5 402 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884959 36884959 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:36884959C>T ENST00000392161.3 - 5 525 c.283G>A c.(283-285)Gaa>Aaa p.E95K ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAATTTATTTCATAAATGTCA 0.303000 6 535 0 0 1 0 0 HERPUD1 9709 broad.mit.edu 37 16 56973916 56973916 + Nonsense_Mutation SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:56973916G>T ENST00000439977.2 + 6 861 c.664G>T c.(664-666)Gaa>Taa p.E222* HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 222 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 GTTTCCAGCTGAAAACCAGCC 0.507000 T ERG prostate 6 220 2.0095e-06 2.07397e-06 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 324 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129173179 129173179 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:129173179G>A ENST00000540052.1 + 9 4584 c.4540G>A c.(4540-4542)Gat>Aat p.D1514N BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1514N|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1514 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CTATGGGGCCGATCCCACACT 0.567000 4 200 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144097345 144097345 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:144097345C>T ENST00000467773.1 - 5 904 c.905G>A c.(904-906)cGc>cAc p.R302H NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 302 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) AATCTCTCGGCGTTTATCACT 0.557000 10 261 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13778776 13778776 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:13778776C>T ENST00000380567.1 + 17 2649 c.1777C>T c.(1777-1779)Cgc>Tgc p.R593C OFD1_ENST00000340096.6_Missense_Mutation_p.R733C|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C|OFD1_ENST00000490265.1_3'UTR O75665 OFD1_HUMAN oral-facial-digital syndrome 1 733 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TTCCTCCAGACGCCTCTCTTC 0.567000 12 207 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121116689 121116689 + RNA SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:121116689C>T ENST00000437515.1 - 0 329 CTTTTCAGCACCAAGCCAAGT 0.403000 4 246 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 7 431 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42876975 42876975 + Missense_Mutation SNP G G C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:42876975G>C ENST00000025301.2 + 8 4268 c.4093G>C c.(4093-4095)Gat>Cat p.D1365H NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1365 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTTGATAATGGATCAGTATGC 0.413000 10 302 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75478296 75478296 + RNA SNP A A G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:75478296A>G ENST00000459803.1 - 0 369 NR_024241.1 CCAGCAAATAACTCCGGTGGC 0.572000 5 119 0 0 1 0 0 AP000295.9 0 broad.mit.edu 37 21 34648943 34648943 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr21:34648943G>A ENST00000433395.2 + 5 599 c.599G>A c.(598-600)cGg>cAg p.R200Q IL10RB_ENST00000290200.2_Silent_p.T72T CTACCTTGACGGAATGTGATT 0.423000 15 473 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160850421 160850421 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:160850421G>A ENST00000326245.3 - 6 757 c.642C>T c.(640-642)ggC>ggT p.G214G ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 214 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCTGGGCGTCGCCAAAATCAT 0.443000 9 909 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 9 410 0 0 1 0 0 GPA33 10223 broad.mit.edu 37 1 167024256 167024256 + Nonsense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:167024256G>A ENST00000367868.3 - 6 1127 c.784C>T c.(784-786)Cga>Tga p.R262* RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 262 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TCCTTCCCTCGGCAGCAGCAG 0.562000 13 290 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 9 270 0.010729 0.010729 1 1 0 LRFN2 57497 broad.mit.edu 37 6 40359728 40359728 + Missense_Mutation SNP C C T rs146316351 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:40359728C>T ENST00000338305.6 - 3 2866 c.2324G>A c.(2323-2325)cGg>cAg p.R775Q NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 775 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAAGTCCCCCGGGCCCCCAC 0.607000 6 226 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127897 152127897 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:152127897C>T ENST00000316073.3 - 3 1742 c.1678G>A c.(1678-1680)Ggt>Agt p.G560S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 560 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGTCTGACCGTAGTGGGAA 0.502000 11 2457 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719644 41719644 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr21:41719644C>T ENST00000400454.1 - 6 1640 c.1163G>A c.(1162-1164)cGc>cAc p.R388H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 388 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTGTCCTTGCGCACAAAGCA 0.502000 9 1300 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33858937 33858937 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:33858937G>A ENST00000389232.4 + 12 1275 c.1205G>A c.(1204-1206)cGt>cAt p.R402H RYR3_ENST00000415757.3_Missense_Mutation_p.R402H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 402 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGATGCCAGCGTGAGGAGTCC 0.507000 15 426 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104385694 104385694 + Silent SNP G G A rs143827340 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:104385694G>A ENST00000361820.3 - 5 3120 c.2520C>T c.(2518-2520)gaC>gaT p.D840D NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 840 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding p.D840E(1)|p.D840D(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGATGAAGGCGTCTAGTTTCT 0.423000 18 340 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 179 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55690874 55690874 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:55690874G>A ENST00000379906.2 + 1 523 c.268G>A c.(268-270)Ggc>Agc p.G90S SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 90 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CTACAAGAACGGCGGCGGTGA 0.622000 19 481 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 22 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 12 94 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198388 170198388 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:170198388C>T ENST00000231706.4 - 7 1998 c.1683G>A c.(1681-1683)acG>acA p.T561T CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 561 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCGTGTGCCCCGTCGCTGCTG 0.507000 5 334 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056276 9056276 + Silent SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:9056276C>T ENST00000397910.4 - 3 31373 c.31170G>A c.(31168-31170)agG>agA p.R10390R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10392 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGAAGATGTCCTGCCTGGTT 0.488000 26 688 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:111862267G>A ENST00000375741.2 + 5 699 c.449G>A c.(448-450)cGc>cAc p.R150H ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 150 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TCGTCTCACCGCATAAAGTCT 0.517000 7 897 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47196504 47196504 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:47196504C>T ENST00000320640.6 - 15 1753 c.1525G>A c.(1525-1527)Gca>Aca p.A509T ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 509 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AGAAAATTTGCGCTCCGACCT 0.358000 5 559 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113772782 113772782 + Silent SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:113772782G>A ENST00000375581.3 + 9 896 c.861G>A c.(859-861)caG>caA p.Q287Q F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 287 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GGGTGGCGCAGGTCATCATCC 0.682000 25 256 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 9 325 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688807 65688807 + Missense_Mutation SNP G G A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:65688807G>A ENST00000335257.6 + 9 1149 c.802G>A c.(802-804)Gtc>Atc p.V268I PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000580974.1_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 268 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding p.V268I(2) breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) GCCTTCTTCCGTCCGCAGTGC 0.557000 17 492 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423121 26423121 + Missense_Mutation SNP C C T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:26423121C>T ENST00000335473.7 + 43 7431 c.7181C>T c.(7180-7182)gCg>gTg p.A2394V MYO18B_ENST00000407587.2_Missense_Mutation_p.A2395V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2394 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGGACGATGCGGGCTGTCCA 0.587000 15 323 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 11 819 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 8 489 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1346 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 15 300 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52305911 52305912 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:52305911_52305912insT ENST00000354831.7 - 2 805_806 c.616_617insA c.(616-618)tacfs p.Y206fs NRD1_ENST00000352171.7_Frame_Shift_Ins_p.Y206fs|NRD1_ENST00000544028.1_Frame_Shift_Ins_p.Y74fs|NRD1_ENST00000539524.1_Frame_Shift_Ins_p.Y74fs|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 186 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 TTTTTCAGTAGTTTTTTTTCTA 0.332 8 497 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000480952.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 7 218 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 9 147 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 9 901 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 7 404 --- --- --- --- AXDND1 126859 broad.mit.edu 37 1 179337955 179337955 + Frame_Shift_Del DEL A A - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:179337955delA ENST00000367618.3 + 3 505 c.118delA c.(118-120)aafs p.K41fs AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Frame_Shift_Del_p.K41fs NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 41 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCTAAAGGAGAAAAAAAATAT 0.378 7 371 --- --- --- --- PPP1R12B 4660 broad.mit.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr1:202407189_202407190insT ENST00000480184.1 + 10 1627_1628 c.1495_1496insT c.(1495-1497)tttfs p.F499fs PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR NM_001167857.1 NP_001161329.1 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 499 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTCCAAGGCAGTTTTTTTTTTC 0.391 17 207 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 14 778 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 11 261 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 9 398 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 8 62 --- --- --- --- SP140 11262 broad.mit.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr2:231159025delA ENST00000392045.3 + 21 2122 c.2008delA c.(2008-2010)aafs p.K672fs SP140_ENST00000420434.3_Frame_Shift_Del_p.K645fs|SP140_ENST00000343805.6_Frame_Shift_Del_p.K612fs|SP140_ENST00000350136.5_Frame_Shift_Del_p.K541fs|SP140_ENST00000486687.2_Frame_Shift_Del_p.K596fs|SP140_ENST00000417495.3_Frame_Shift_Del_p.K558fs NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 672 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K672fs*4(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACGTTACAGGAAAAAAAAGGT 0.373 9 399 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 9 449 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 602 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 9 203 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 7 512 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 13 325 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 11 30 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 463 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. 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 AAAACTGGCGTCCTCCTCCTCCT 0.527 8 542 --- --- --- --- TAF9 6880 broad.mit.edu 37 5 68660786 68660788 + In_Frame_Del DEL TCA TCA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:68660786_68660788delTCA ENST00000328663.4 - 3 1243_1245 c.777_779delTGA c.(775-780)gac>ga p.DD259del TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DD259del|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.DD259del NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 63 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) attatcatagtcatcatcatcat 0.330 7 826 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130815368 130815369 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr5:130815368_130815369insT ENST00000509018.1 - 16 2123_2124 c.1918_1919insA c.(1918-1920)taafs p.*640fs RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 640 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATGGCGATTACTTTTTTTTTCA 0.366 12 696 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 15 981 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 12 699 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 8 431 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 9 904 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 18 622 --- --- --- --- NCOA7 135112 broad.mit.edu 37 6 126176317 126176317 + Frame_Shift_Del DEL A A - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:126176317delA ENST00000368357.3 + 4 554 c.202delA c.(202-204)aafs p.K70fs NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 70 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GACTGATGAGAAAAAAAAGAG 0.358 9 878 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 7 246 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 288 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 10 53 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888184 65888184 + RNA DEL G G - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:65888184delG ENST00000442578.1 - 0 826 AAAAAAAAAAGAAACTTTTGA 0.333 3 5 --- --- --- --- JHDM1D 0 broad.mit.edu 37 7 139818933 139818933 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr7:139818933delT ENST00000397560.2 - 9 1323 c.1226delA c.(1225-1227)acfs p.N409fs JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.N409fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 409 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTCCAGCAAGTTTTTGGCTAC 0.343 7 780 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 9 277 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 19 443 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 7 1357 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 9 441 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 12 491 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 16 49 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 9 589 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:102789811delG ENST00000370215.3 - 2 391 c.166delC c.(166-168)gcfs p.R56fs PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 56 cilium|nucleus protein binding p.R56C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGGATTCCGCGGGGGGGCCCG 0.667 7 481 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 9 454 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105362849 105362851 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr10:105362849_105362851delGAG ENST00000369774.4 - 15 2400_2402 c.2124_2126delCTC c.(2122-2127)tct>tc p.SS708del SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.SS575del|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.SS543del|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.SS680del Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 708 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGACAaggaagaggaggaggagg 0.576 7 480 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 11 407 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 7 1220 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 8 922 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525655 63525656 + Frame_Shift_Ins INS - - A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:63525655_63525656insA ENST00000377819.5 + 9 3235_3236 c.3081_3082insA c.(3079-3084)gcaaaafs p.AK1027fs RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 1027 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CTGGAATCGCCAAAAAAAAGGC 0.337 8 281 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 15 365 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 8 565 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 8 313 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:101680156_101680157insT ENST00000261637.4 + 5 558_559 c.384_385insT c.(382-387)gattttfs p.DF128fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 13 962 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 202 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). 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 AGTCCCCACGAGAAGAAGAAGAA 0.606 13 669 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 9 60 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101755524 101755524 + Splice_Site DEL A A - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr13:101755524delA ENST00000251127.6 - 26 3137 c.3057_splice c.e26+1 p.L1019_splice NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1019 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCACATACCAAAAAAATTTC 0.428 7 627 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 121 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 545 --- --- --- --- MIR381HG 0 broad.mit.edu 37 14 101513129 101513130 + RNA INS - - TGG rs60759868 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr14:101513129_101513130insTGG ENST00000553692.1 + 0 28 GAAACTATCATtggtggtggtg 0.515 4 7 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23283336 23283337 + RNA INS - - T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:23283336_23283337insT ENST00000560464.1 - 0 5097 CTTCCCAATGAGAATCTCTGAA 0.426 11 84 --- --- --- --- CHST14 113189 broad.mit.edu 37 15 40764439 40764440 + Frame_Shift_Ins INS - - C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:40764439_40764440insC ENST00000306243.5 + 1 1280_1281 c.1027_1028insC c.(1027-1029)cccfs p.P343fs CHST14_ENST00000559991.1_Frame_Shift_Ins_p.P318fs NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 343 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) CTTGTGCAGTGCCCCCCGGGCC 0.619 7 411 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 424 --- --- --- --- FAM173A 65990 broad.mit.edu 37 16 772530 772530 + Frame_Shift_Del DEL G G - rs149173052 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:772530delG ENST00000569529.1 + 5 981 c.681delG c.(679-681)ccfs p.P227fs FAM173A_ENST00000564000.1_3'UTR|FAM173A_ENST00000219535.3_Frame_Shift_Del_p.P210fs NM_023933.1 NP_076422.1 Q9BQD7 F173A_HUMAN family with sequence similarity 173, member A 227 integral to membrane pancreas(1) 1 CCCCCATCCCGGGGGGCCTTA 0.592 7 582 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 23 158 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 9 341 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 7 573 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 198 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 7 304 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579315 7579316 + Frame_Shift_Ins INS - - C TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:7579315_7579316insC ENST00000420246.2 - 4 503_504 c.371_372insG c.(370-372)tacfs p.Y124fs TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y124fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 124 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AACTGACCGTGCAAGTCACAGA 0.545 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 361 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 7 144 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 9 284 --- --- --- --- CCDC144NL 339184 broad.mit.edu 37 17 20768756 20768756 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:20768756delT ENST00000327925.5 - 4 757 c.638delA c.(637-639)agfs p.K213fs CCDC144NL_ENST00000539484.1_5'UTR NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like 213 large_intestine(3)|lung(3)|skin(1) 7 CACATGATTCTTCCCCTTTCT 0.368 7 291 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 10 275 --- --- --- --- KLHL11 55175 broad.mit.edu 37 17 40011270 40011271 + Frame_Shift_Del DEL TC TC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:40011270_40011271delTC ENST00000319121.3 - 2 908_909 c.848_849delGA c.(847-849)afs p.R283fs NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 283 BACK. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) CTTCAAAGTATCTCTCTCTCTC 0.401 7 432 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 366 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 457 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 91 --- --- --- --- ONECUT2 9480 broad.mit.edu 37 18 55103477 55103479 + In_Frame_Del DEL CAC CAC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr18:55103477_55103479delCAC ENST00000491143.2 + 1 561_563 c.529_531delCAC c.(529-531)del p.H184del NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 184 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ccaccatccgcaccaccaccacc 0.655 8 49 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 217 --- --- --- --- DOCK6 57572 broad.mit.edu 37 19 11326596 11326596 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:11326596delT ENST00000294618.7 - 31 3913 c.3902delA c.(3901-3903)agfs p.K1301fs CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1301 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TTCAAAGGCCTTTTTCCCCTG 0.542 7 552 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 8 1516 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 7 998 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 33 478 --- --- --- --- PAK4 0 broad.mit.edu 37 19 39664276 39664278 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:39664276_39664278delTCC ENST00000599386.1 + 4 446_448 c.265_267delTCC c.(265-267)del p.S94del PAK4_ENST00000360442.3_In_Frame_Del_p.S247del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del|PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000593690.1_In_Frame_Del_p.S247del NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 247 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CATCCCCCAGTCCTCCTCCTCCT 0.700 8 174 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 7 210 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262737 45262737 + Frame_Shift_Del DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:45262737delC ENST00000164227.5 + 9 1474 c.1230delC c.(1228-1230)gafs p.D410fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 410 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CCCCCAGGGACCCCCCTGGAT 0.642 T IGH@ CLL 7 1451 --- --- --- --- PNMAL2 57469 broad.mit.edu 37 19 46997016 46997017 + In_Frame_Ins INS - - CGGCCT rs147338403 by1000genomes TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:46997016_46997017insCGGCCT ENST00000599531.1 - 1 2738_2739 c.1706_1707insAGGCCG c.(1705-1707)cgg>cAGGCCGgg p.569_569R>QAG PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 571 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GAGTGACGCCCCGGCCTCGGCC 0.777 8 39 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 11 450 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1126_splice c.e12-1 p.D376_splice BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 7 368 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 8 517 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:26906183_26906185delTCA ENST00000407690.1 - 4 337_339 c.54_56delTGA c.(52-57)gac>ga p.DD18del TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 18 Poly-Asp. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTCCCGCTCGTCATCATCATCAT 0.532 8 380 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 9 481 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 7 368 --- --- --- --- DCAF12L1 139170 broad.mit.edu 37 X 125686396 125686397 + Frame_Shift_Ins INS - - G TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d7d9a4-fa84-406a-839f-340a37e9d40e 58ea8a9c-cea1-44a7-b388-6112787a0305 g.chrX:125686396_125686397insG ENST00000371126.1 - 1 437_438 c.195_196insC c.(193-198)ccccagfs p.Q66fs NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 66 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TGGAGCCTGGCGGGGCCCCACC 0.683 8 264 --- --- --- ---