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 MACF1 23499 broad.mit.edu 37 1 39761487 39761487 + Missense_Mutation SNP T T G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr1:39761487T>G uc021olt.1 + 18 2355 c.2303T>G c.(2302-2304)tTg>tGg p.L768W MACF1_uc021ols.1_Missense_Mutation_p.L768W|MACF1_uc001cdc.2_Missense_Mutation_p.L768W|MACF1_uc001cda.1_Missense_Mutation_p.L676W NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 768 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.K768K(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGTCCCAGTTGCAGTGGATG 0.433 SELRC1 65260 broad.mit.edu 37 1 53158443 53158443 + Missense_Mutation SNP C C T TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr1:53158443C>T uc001cui.2 - 1 243 c.203G>A c.(202-204)aGt>aAt p.S68N NM_023077 NP_075565 Q96BR5 SELR1_HUMAN Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA. 68 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 GCAGCTATCACTGTGCTGGTT 0.502 PRG4 10216 broad.mit.edu 37 1 186277611 186277614 + Frame_Shift_Del DEL AGAA AGAA - TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr1:186277611_186277614delAGAA uc001gru.4 + 6 2811_2814 c.2760_2763delAGAA c.(2758-2763)acagaafs p.T920fs MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 920 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACAAGACAACAGAAAGAGACTTAC 0.412 ITIH2 3698 broad.mit.edu 37 10 7771922 7771922 + Silent SNP A A T TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr10:7771922A>T uc001ijs.3 + 11 1449 c.1287A>T c.(1285-1287)ctA>ctT p.L429L NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 429 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TAGGCGAACTAAAACTGTCAA 0.373 LOC440040 440040 broad.mit.edu 37 11 49598207 49598207 + Missense_Mutation SNP T T C rs71479502 by1000genomes TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr11:49598207T>C uc010rhy.2 + 1 798 c.320T>C c.(319-321)tTc>tCc p.F107S LOC440040_uc009ymb.3_Missense_Mutation_p.F107S Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TCCTCTTCCTTCTGCTCCAAG 0.502 CLPB 81570 broad.mit.edu 37 11 72012979 72012979 + Frame_Shift_Del DEL G G - TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr11:72012979delG uc001osj.3 - 11 1337 c.1287delC c.(1285-1287)ggcfs p.G429fs CLPB_uc010rqx.2_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.2_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.3_Frame_Shift_Del_p.G399fs|CLPB_uc010rqz.2_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.3_Frame_Shift_Del_p.G37fs NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 429 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 GGCCAACGTAGCCTGGTGGAG 0.522 HEPHL1 341208 broad.mit.edu 37 11 93844970 93844970 + Silent SNP G G A rs118037969 by1000genomes TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr11:93844970G>A uc001pep.2 + 19 3547 c.3390G>A c.(3388-3390)acG>acA p.T1130T AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 1130 copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.L1130P(1)|p.T1134T(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TAATCACCACGGTGATTCTCT 0.507 AMN1 196394 broad.mit.edu 37 12 31850308 31850308 + Missense_Mutation SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr12:31850308G>A uc001rkq.4 - 4 744 c.578C>T c.(577-579)gCg>gTg p.A193V AMN1_uc001rko.4_Missense_Mutation_p.A175V|AMN1_uc010skc.2_Missense_Mutation_p.A175V|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript NM_001113402 NP_001106873 Q8IY45 AMN1_HUMAN Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA. 193 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) TAATTTCTTCGCACAAGGTCC 0.338 MARCH9 92979 broad.mit.edu 37 12 58152585 58152585 + Missense_Mutation SNP A A G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr12:58152585A>G uc001spx.2 + 3 1377 c.946A>G c.(946-948)Aca>Gca p.T316A MARCH9_uc001spy.3_Missense_Mutation_p.T203A NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA. 316 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CTGCGGTTATACAATCTTGCA 0.652 PMFBP1 83449 broad.mit.edu 37 16 72184633 72184633 + Silent SNP C C T TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr16:72184633C>T uc002fcc.4 - 4 682 c.510G>A c.(508-510)aaG>aaA p.K170K PMFBP1_uc002fcd.3_Silent_p.K170K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K25K NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 170 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GAGAGGCGATCTTGTCCCCGG 0.498 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr17:7577539G>A uc002gim.2 - 6 936 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) BRIP1 83990 broad.mit.edu 37 17 59876469 59876469 + Silent SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr17:59876469G>A uc002izk.2 - 8 1638 c.1332C>T c.(1330-1332)agC>agT p.S444S NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 444 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ACTTAATGAGGCTACAGCACA 0.358 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks COLEC12 81035 broad.mit.edu 37 18 334801 334801 + Missense_Mutation SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr18:334801G>A uc002kkm.3 - 5 1972 c.1757C>T c.(1756-1758)tCa>tTa p.S586L NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 586 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CACCGCTCCTGATGGGCCAGG 0.701 ALK 238 broad.mit.edu 37 2 29917797 29917797 + Missense_Mutation SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr2:29917797G>A uc002rmy.3 - 2 1823 c.871C>T c.(871-873)Cgc>Tgc p.R291C NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 291 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGGATGCGGCGCCAGGACCAG 0.602 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome SFTPB 6439 broad.mit.edu 37 2 85892915 85892915 + Silent SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr2:85892915G>A uc002sqj.3 - 5 532 c.432C>T c.(430-432)gaC>gaT p.D144D SFTPB_uc002sqi.3_Silent_p.D144D|SFTPB_uc002sqh.3_Silent_p.D144D NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 132 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 TGCCGTTTGAGTCCTGGGGCA 0.642 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr2:209113113G>C uc002vcs.3 - 3 640 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398 Mis gliobastoma DNAJC13 23317 broad.mit.edu 37 3 132198097 132198097 + Silent SNP G G A rs61748099 byFrequency TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr3:132198097G>A uc003eor.3 + 24 2801 c.2736G>A c.(2734-2736)agG>agA p.R912R NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 912 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AACGAGATAGGTTGATTCTCT 0.294 WDR1 9948 broad.mit.edu 37 4 10080542 10080542 + Silent SNP G G A TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr4:10080542G>A uc021xlv.1 - 11 1651 c.1368C>T c.(1366-1368)ggC>ggT p.G456G WDR1_uc021xlw.1_Silent_p.G316G|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank NM_017491 NP_059830 O75083 WDR1_HUMAN Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA. 456 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCGTGTCCCCGCCGGGGTGCA 0.592 FRYL 285527 broad.mit.edu 37 4 48621289 48621289 + Splice_Site SNP A A G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr4:48621289A>G uc003gyh.1 - 7 1016 c.411_splice c.e7+1 p.Q137_splice FRYL_uc003gyk.3_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AAAAGAGCTTACCTGCTTTAG 0.363 NFKB1 4790 broad.mit.edu 37 4 103518775 103518775 + Missense_Mutation SNP G G A rs139575566 TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr4:103518775G>A uc011ceq.2 + 14 2058 c.1591G>A c.(1591-1593)Gtc>Atc p.V531I NFKB1_uc011cep.2_Missense_Mutation_p.V532I|NFKB1_uc011cer.2_Missense_Mutation_p.V351I NM_001165412 NP_001158884 P19838 NFKB1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA. 531 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.V532I(1) biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GCTGCTGGCCGTCCAGCGCCA 0.522 PIK3R1 5295 broad.mit.edu 37 5 67591098 67591109 + In_Frame_Del DEL ACAGCATTAAAC ACAGCATTAAAC - TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr5:67591098_67591109delACAGCATTAAAC uc003jva.3 + 12 2271_2282 c.1691_1702delACAGCATTAAAC c.(1690-1704)aacagcattaaacca>aca p.564_568NSIKP>T PIK3R1_uc003jvc.3_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.3_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.3_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc021xzn.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_uc011crb.2_In_Frame_Del_p.234_238NSIKP>T NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 564 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(4)|p.N564K(4)|p.K567E(3)|p.D560_S565del(2)|p.K567_L570delKPDL(2)|p.R562_M563ins13(1)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.K267E(1)|p.K297_L300delKPDL(1)|p.N564fs*?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAACGTATGAACAGCATTAAACCAGACCTTAT 0.373 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) GRINA 2907 broad.mit.edu 37 8 145065758 145065758 + Missense_Mutation SNP C C G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr8:145065758C>G uc003zan.1 + 1 533 c.367C>G c.(367-369)Caa>Gaa p.Q123E GRINA_uc003zao.1_Missense_Mutation_p.Q123E|GRINA_uc003zap.1_Missense_Mutation_p.Q123E NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA. 123 Pro-rich. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTTCCCAGGACAAGACCCTGA 0.672 TYRP1 7306 broad.mit.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chr9:12702411_12702414delACAA uc003zkv.4 + 4 1232_1235 c.1054_1057delACAA c.(1054-1059)acaaacfs p.T352fs NM_000550 NP_000541 P17643 TYRP1_HUMAN Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA. 352 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity p.N353fs*31(4) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) TTCCAACTCTACAAACAGTTTCCG 0.387 Oculocutaneous Albinism ATRX 546 broad.mit.edu 37 X 76814207 76814208 + Frame_Shift_Del DEL TG TG - TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14 41190f35-e3af-46e3-9b2d-41bc41d5891b g.chrX:76814207_76814208delTG uc004ecp.4 - 28 6668_6669 c.6436_6437delCA c.(6436-6438)cagfs p.Q2146fs ATRX_uc004ecq.4_Frame_Shift_Del_p.Q2108fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1931fs NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 2146 Helicase C-terminal. 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) GAATATACTCTGGATGTCATAA 0.337 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome