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
USH2A	7399	broad.mit.edu	37	1	215972326	215972326	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:215972326C>G	ENST00000366943.2	-	50	10267	c.9881G>C	c.(9880-9882)tGc>tCc	p.C3294S	USH2A_ENST00000307340.3_Missense_Mutation_p.C3294S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3294					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGCCACAGCACTTCTGGCC	0.527000										HNSCC(13;0.011)			9	113					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11702615	11702615	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:11702615G>A	ENST00000381486.2	+	3	484	c.184G>A	c.(184-186)Gag>Aag	p.E62K	GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.E62K|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	62						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAATGAGGAAGAGGAAGAAGA	0.582000													10	188					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57990092	57990092	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:57990092A>G	ENST00000225577.4	+	3	260	c.239A>G	c.(238-240)aAc>aGc	p.N80S	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	80					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTAGTGTGAACAGAGGGCCA	0.368000													106	216					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615005	43615005	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:43615005G>A	ENST00000355710.3	+	14	2651	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	RET_ENST00000340058.5_Missense_Mutation_p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	807	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGTGGAGTACGCCAAATACGG	0.701000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557000		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)			22	33					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105606400	105606400	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:105606400C>T	ENST00000254765.3	-	4	1099	c.821G>A	c.(820-822)cGc>cAc	p.R274H	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	274						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTGATCTGCGTATTTCTGG	0.348000													86	126					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967952	161967952	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:161967952C>T	ENST00000294794.3	-	6	1560	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	OLFML2B_ENST00000367940.2_Silent_p.S380S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	379										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATCTGAGGTCGAGGGCTGTG	0.627000													5	239					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													7	276					0	0	1	0	0
FIBP	9158	broad.mit.edu	37	11	65653868	65653868	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:65653868T>C	ENST00000338369.2	-	4	549	c.437A>G	c.(436-438)aAg>aGg	p.K146R	FIBP_ENST00000533045.1_Missense_Mutation_p.K143R|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	146					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CTCTACCACCTTGAAGACCCG	0.522000													14	223					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039310	248039310	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:248039310A>G	ENST00000366481.3	+	6	1028	c.980A>G	c.(979-981)gAg>gGg	p.E327G	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	327	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAACCCTGAGCGATTTGAC	0.592000													5	78					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133913946	133913946	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:133913946T>C	ENST00000427044.2	-	8	903	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RYK_ENST00000296084.4_Missense_Mutation_p.N288S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						AGTTGCATTGTTGGGCGTGTC	0.458000													27	39					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96875568	96875568	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:96875568G>C	ENST00000394166.3	+	1	1623	c.234G>C	c.(232-234)gaG>gaC	p.E78D	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	78					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACACATCGAGTGCGTGGTGT	0.682000													8	13					0	0	1	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635806	34635806	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:34635806C>T	ENST00000378892.1	-	3	655	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SIGMAR1_ENST00000277010.4_Silent_p.G165G|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.G134G			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	ATGTGTTTGGCCCCCACTCCA	0.647000													46	53					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615124	158615124	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:158615124C>G	ENST00000368148.3	-	29	4228	c.4048G>C	c.(4048-4050)Gac>Cac	p.D1350H	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1350H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1350					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACTGAAGTCCTCTAAGGCC	0.502000													8	131					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258358	56258358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:56258358G>T	ENST00000327216.2	-	1	513	c.489C>A	c.(487-489)taC>taA	p.Y163*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGCTAGGTTGTAGGTCCACA	0.498000													8	148					7.48243e-07	7.93591e-07	1	1	0
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	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)	GGAGGGGATGCGGCGCCAGGA	0.597000			"""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				4	201					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94328504	94328504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:94328504C>T	ENST00000299001.6	+	10	1391	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	394					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTGATTTCCAGCTGATGAA	0.498000													8	179					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39763257	39763257	+	Silent	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr14:39763257C>G	ENST00000553728.1	+	11	2367	c.2154C>G	c.(2152-2154)ctC>ctG	p.L718L	CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000341502.5_Silent_p.L183L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000396165.4_Silent_p.L154L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L|CTAGE5_ENST00000280083.3_Silent_p.L183L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000556148.1_Silent_p.L108L|CTAGE5_ENST00000348007.3_Silent_p.L183L|CTAGE5_ENST00000557038.1_Silent_p.L103L																							CAAAATCCCTCAAATCACAAG	0.299000													18	239					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124116908	124116908	+	Missense_Mutation	SNP	C	C	T	rs115867734	by1000genomes	TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:124116908C>T	ENST00000286713.2	-	3	226	c.209G>A	c.(208-210)cGc>cAc	p.R70H	STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTGTAAAATGCGACCCAATCT	0.294000													4	123					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680594	73680594	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:73680594G>T	ENST00000264448.6	+	8	7048	c.6937G>T	c.(6937-6939)Ggt>Tgt	p.G2313C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2313					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTATCTAATGGTGATTTGCT	0.448000													5	134					0.184627	0.184627	1	1	0
DLL3	10683	broad.mit.edu	37	19	39989627	39989627	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:39989627C>G	ENST00000205143.4	+	1	20	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	DLL3_ENST00000356433.5_Missense_Mutation_p.R5G|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	5					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCTCCCCACGGATGTCCGG	0.622000													9	172					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17726892	17726892	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17726892A>G	ENST00000377524.3	+	4	478	c.263A>G	c.(262-264)gAt>gGt	p.D88G	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	88	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTTCAAGAGATTTTGCTAGT	0.313000													48	119					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:151072988G>A	ENST00000568733.1	+	13	1588	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N|NUB1_ENST00000355851.4_Missense_Mutation_p.D484N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493000													5	324					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519703	113519703	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:113519703A>G	ENST00000284601.3	-	4	1512	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	482					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAACATCCCAAATCTTTTACT	0.373000													11	207					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102076697	102076697	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:102076697A>G	ENST00000282441.5	+	5	1264	c.876A>G	c.(874-876)ggA>ggG	p.G292G	YAP1_ENST00000526343.1_Silent_p.G254G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000524575.1_Silent_p.G114G|YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000537274.1_Silent_p.G292G	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	292	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCCACAGGGAGGCGTCATGG	0.537000													7	111					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361522	112361522	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:112361522G>C	ENST00000361804.4	+	24	2898	c.2772G>C	c.(2770-2772)aaG>aaC	p.K924N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	924					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACTGGAAAAGATGACAAATC	0.378000													12	200					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52288806	52288806	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:52288806T>C	ENST00000371068.5	+	2	229	c.126T>C	c.(124-126)cgT>cgC	p.R42R	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	42						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTGTTCGACGTCCAACAGTTG	0.493000													4	179					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	768					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378000													86	158					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514779	47514779	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:47514779T>C	ENST00000273859.3	+	2	491	c.222T>C	c.(220-222)aaT>aaC	p.N74N	ATP10D_ENST00000504445.1_Silent_p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	74					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGTGAACAATCGAATACGAA	0.403000													72	84					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								48	90					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133603	126133603	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:126133603C>G	ENST00000373631.3	+	8	2183	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	CRB2_ENST00000359999.3_Missense_Mutation_p.L728V|CRB2_ENST00000373629.2_Missense_Mutation_p.L396V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	728	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCCGTCACCTGGTGATGCT	0.667000													14	196					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517000													6	501					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	133					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													4	125					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604643	237604643	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:237604643A>G	ENST00000366574.2	+	13	1347	c.1030A>G	c.(1030-1032)Aaa>Gaa	p.K344E	RYR2_ENST00000360064.6_Missense_Mutation_p.K342E|RYR2_ENST00000542537.1_Missense_Mutation_p.K328E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	344					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGTGAGAAAAGAAGTAGA	0.378000													69	94					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110716	17110716	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17110716T>C	ENST00000377833.4	-	20	2744	c.2679A>G	c.(2677-2679)acA>acG	p.T893T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	893	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGTATGTCTGTACCGCAAT	0.318000													89	280					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	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													7	87					0	0	1	0	0
MACROD1	28992	broad.mit.edu	37	11	63919827	63919827	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:63919827G>T	ENST00000255681.6	-	2	403	c.337C>A	c.(337-339)Cat>Aat	p.H113N	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	113										breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGAAGTAATGTTCCTCCCGC	0.617000													65	152					1.05635e-38	1.13761e-38	1	1	0
SMC2	10592	broad.mit.edu	37	9	106877086	106877086	+	Silent	SNP	C	C	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:106877086C>A	ENST00000286398.7	+	13	1935	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	549	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGAACGACTCTACAATGTTG	0.333000													4	117					0.150653	0.152837	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:5282783C>T	ENST00000546004.1	-	3	1304	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000217270.3_Missense_Mutation_p.R353H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557000										HNSCC(71;0.22)			40	107					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													3	38					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187088818	187088818	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:187088818A>T	ENST00000259030.2	+	2	508	c.398A>T	c.(397-399)aAg>aTg	p.K133M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	133					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCACGAGGAAGTCTCCAGAA	0.488000													29	35					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100849858	100849858	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:100849858G>A	ENST00000341469.2	-	6	1232	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	408	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CATGCCGCCCGTCACGTCGTA	0.726000													3	26					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	66					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627014	43627014	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:43627014A>G	ENST00000332857.6	-	4	1701	c.1673T>C	c.(1672-1674)gTc>gCc	p.V558A		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGATTTTTGGACCCTAGAGGG	0.473000													16	389					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17531345	17531345	+	Splice_Site	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:17531345A>G	ENST00000317040.7	+	3	1244		c.e3-1		CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Splice_Site|MVB12A_ENST00000392702.2_Splice_Site|MVB12A_ENST00000543795.1_Splice_Site|MVB12A_ENST00000529939.1_Splice_Site					multivesicular body subunit 12A																		TTCCACCCCCAGAACCCGCAG	0.672000													20	37					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144318	31144318	+	Silent	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:31144318G>T	ENST00000543491.1	+	3	3615	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAACCTCCTGAACAAAAAGT	0.493000													10	200					3.86212e-05	3.97571e-05	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79855467	79855467	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:79855467A>G	ENST00000338682.3	-	5	1044	c.372T>C	c.(370-372)taT>taC	p.Y124Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	124						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AATTTATAGCATAAACAAGAG	0.443000													5	259					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413000													6	277					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8990887	8990887	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:8990887C>T	ENST00000344836.4	-	26	2986	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	USP7_ENST00000381886.4_Missense_Mutation_p.E914K|USP7_ENST00000535863.1_Missense_Mutation_p.E831K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	930					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAAGCTCCACGGCCTTT	0.438000													23	448					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371787	19371787	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:19371787G>A	ENST00000291481.7	-	3	382	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	107	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CCGAATGCCCGGTGCTGGGGG	0.701000													4	136					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124097550	124097550	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:124097550G>A	ENST00000368994.2	+	16	1725	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M	BTBD16_ENST00000260723.4_Missense_Mutation_p.V491M			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	491										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATCCAAACTGTGGGCATCCC	0.408000													6	117					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76715664	76715664	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:76715664A>G	ENST00000264917.5	+	19	2247	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000346042.3_Silent_p.E637E|PDE8B_ENST00000333194.4_Silent_p.E679E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000342343.4_Silent_p.E714E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	734	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACACTTTGAACATGTGAATA	0.423000													48	116					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25477392	25477392	+	RNA	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:25477392A>G	ENST00000453082.2	+	0	1614					NR_003343.1																						ATGGCCCTGGACCAGTGTCTG	0.587000													3	64					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100175	27100176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:27100175_27100176insC	ENST00000324856.7	+	16	4342_4343	c.3971_3972insC	c.(3970-3972)tccfs	p.S1324fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.S941fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.S1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1324fs*1(1)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcagc	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								51	126	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422523	139422531	+	In_Frame_Del	DEL	GCCGCTCTC	GCCGCTCTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:139422523_139422531delGCCGCTCTC	ENST00000541337.1	-	1	353_361	c.124_132delGAGAGCGGC	c.(124-132)del	p.ESG42del	NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del|NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000361474.1_In_Frame_Del_p.ESG42del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	42	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctgctgctgccgctctcgctgctgctg	0.708													2	4	---	---	---	---					
TOR1A	1861	broad.mit.edu	37	9	132576341	132576343	+	In_Frame_Del	DEL	CTC	CTC	-	rs80358233		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:132576341_132576343delCTC	ENST00000351698.4	-	5	955_957	c.907_909delGAG	c.(907-909)del	p.E303del		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	303			Missing (in DYT1).		chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAATGTCATCTCCTCAGCCACT	0.424													119	269	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actafs	p.TTL55fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	55	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"""N, S, F"""		hepatocellular carcinoma								36	92	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102296030	102296032	+	RNA	DEL	CTC	CTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:102296030_102296032delCTC	ENST00000561463.1	+	0	4076_4078																											AGTTCATCTTCTCGGAGCTGCTG	0.596													2	4	---	---	---	---					
ALDOA	226	broad.mit.edu	37	16	30081251	30081253	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:30081251_30081253delCTC	ENST00000566897.1	+	11	2052_2054	c.900_902delCTC	c.(898-903)ttc>tt	p.FS300del	ALDOA_ENST00000395240.3_In_Frame_Del_p.FS304del|ALDOA_ENST00000569798.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000564546.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000338110.5_In_Frame_Del_p.FS300del|ALDOA_ENST00000412304.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000563060.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000395248.1_In_Frame_Del_p.FS354del|ALDOA_ENST00000564595.2_In_Frame_Del_p.FS354del|ALDOA_ENST00000569545.1_In_Frame_Del_p.FS300del			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	300					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTGACCTTCTCCTACGGCCGA	0.621													9	67	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7579420delG	ENST00000420246.2	-	4	399	c.267delC	c.(265-267)ccfs	p.P89fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(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)		GGGGCCAGGAGGGGGCTGGTG	0.627		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)			59	98	---	---	---	---					
TMC6	11322	broad.mit.edu	37	17	76109632	76109636	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:76109632_76109636delCTCCT	ENST00000590602.1	-	19	2506_2510	c.2347_2351delAGGAG	c.(2347-2352)cfs	p.RS783fs	TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000592076.1_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	783						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTCACCTGCTCCTCTCCTCCCTC	0.576													37	80	---	---	---	---					
CEP76	79959	broad.mit.edu	37	18	12686414	12686415	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr18:12686414_12686415delAT	ENST00000262127.2	-	8	1193_1194	c.968_969delAT	c.(967-969)tfs	p.Y323fs	CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	323					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTTTAACATAGGAACAGAC	0.396													16	270	---	---	---	---					
ZNF44	51710	broad.mit.edu	37	19	12360811	12360811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:12360811delT	ENST00000426973.1	-	3	202	c.203delA	c.(202-204)acfs	p.N68fs				P15621	ZNF44_HUMAN	zinc finger protein 44	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCCCCTGGTTTTTGTACTG	0.294													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76890157	76890158	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chrX:76890157_76890158delCA	ENST00000373344.5	-	17	4950_4951	c.4736_4737delTG	c.(4735-4737)gfs	p.V1579fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1579					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)	TTGTTTTTTTCACAGACTCACA	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						162	32	---	---	---	---