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
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	A	G	rs121913512		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr4:55594221A>G	ENST00000288135.5	+	13	2021	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(25)|p.K642Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				56	57					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123677045	123677045	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:123677045T>C	ENST00000309154.2	-	1	50	c.13A>G	c.(13-15)Agc>Ggc	p.S5G		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCACAGTGCTCCAGTTTCCC	0.418000													53	10					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121650513	121650513	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:121650513A>C	ENST00000489711.1	+	19	2080	c.1692A>C	c.(1690-1692)gaA>gaC	p.E564D	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E533D	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	564					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTAGAACAGAAGATAAGAACT	0.403000													10	17					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr21:41719705C>T	ENST00000400454.1	-	6	1579	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E368Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512000													101	140					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239214	104239214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:104239214C>T	ENST00000374851.1	-	4	1308	c.161G>A	c.(160-162)cGc>cAc	p.R54H	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R54H|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.R54H|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	54						integral to membrane											ATGCCAATGGCGCAGATAGAA	0.542000													34	37					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95676136	95676136	+	Silent	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:95676136G>T	ENST00000436874.1	+	8	1149	c.1044G>T	c.(1042-1044)cgG>cgT	p.R348R	VEZT_ENST00000261219.6_Silent_p.R300R|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TCTTCAGACGGTTAGCCCTAT	0.413000													4	70					0.150653	0.150653	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12353756	12353756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:12353756C>T	ENST00000358136.3	+	24	6158	c.6028C>T	c.(6028-6030)Cag>Tag	p.Q2010*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q2010*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2010					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATTGAGGGGCAGACGGTAGG	0.517000													8	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490119	179490119	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:179490119A>T	ENST00000589042.1	-	241	44653	c.44429T>A	c.(44428-44430)gTc>gAc	p.V14810D	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5937D|TTN_ENST00000460472.2_Missense_Mutation_p.V5745D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13169D|TTN_ENST00000342992.6_Missense_Mutation_p.V12242D|TTN_ENST00000359218.5_Missense_Mutation_p.V5870D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13169	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACGTGGGACCACCTAGTT	0.343000													60	93					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635349	33635349	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:33635349G>T	ENST00000380099.3	+	4	2141	c.2133G>T	c.(2131-2133)tgG>tgT	p.W711C	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	711	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCTGGCTTGGCATGTGTACA	0.478000													29	47					3.65163e-15	3.84382e-15	1	1	0
NKX6-3	157848	broad.mit.edu	37	8	41504731	41504731	+	Silent	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:41504731T>G	ENST00000524115.2	-	1	147	c.144A>C	c.(142-144)gcA>gcC	p.A48A		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGAAAGACATGCAGGAGTGT	0.572000													5	1					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													4	74					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000													6	82					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190444550	190444550	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:190444550G>A	ENST00000261024.2	-	2	526	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	34					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAAGTAGAGAGAGAATGACCA	0.443000													26	37					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193672	114193672	+	Splice_Site	SNP	G	G	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:114193672G>C	ENST00000434316.2	+	10	1899	c.1539_splice	c.e10-1	p.V514_splice	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	514						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTCTCTCAGGTCACGGAGCT	0.647000													30	39					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999873	72999873	+	Silent	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr18:72999873C>T	ENST00000322038.5	+	2	2960	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	TSHZ1_ENST00000580243.1_Silent_p.L837L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	837						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAGCGCACTCATGGACATCT	0.572000													24	51					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580602	153580602	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:153580602T>C	ENST00000422373.1	-	40	6940	c.6692A>G	c.(6691-6693)cAc>cGc	p.H2231R	FLNA_ENST00000344736.4_Missense_Mutation_p.H2199R|FLNA_ENST00000360319.4_Missense_Mutation_p.H2231R|FLNA_ENST00000369856.3_Missense_Mutation_p.H372R|FLNA_ENST00000369850.3_Missense_Mutation_p.H2239R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2239					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGACCTTGTGGGCTCCCCC	0.667000													21	3					0	0	1	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492497	25492497	+	RNA	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr15:25492497G>A	ENST00000364273.1	+	0	6					NR_003357.1																						CAGTTGGGTCGATGATGAGAA	0.517000													113	140					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117398016	117398016	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:117398016G>A	ENST00000160373.3	-	11	3272	c.3181C>T	c.(3181-3183)Ccg>Tcg	p.P1061S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1061										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTGACCACGGCACATTTCCT	0.453000													3	23					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93699825	93699825	+	Splice_Site	SNP	T	T	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:93699825T>A	ENST00000265990.6	+	3	561		c.e3+2			NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCAGACAAGGTGCTTTTAAGT	0.348000													18	18					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230479	29230479	+	RNA	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr6:29230479C>T	ENST00000441381.1	+	0	79																											CTCCTTATTCCTTAGTGGGAT	0.408000													18	30					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839149	97839149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:97839149C>T	ENST00000370192.3	-	16	2126	c.2026G>A	c.(2026-2028)Gga>Aga	p.G676R		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	676	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTCTTTCTCCCATGCCATGT	0.443000													14	33					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242013869	242013869	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:242013869A>G	ENST00000366548.3	+	4	735	c.142A>G	c.(142-144)Aaa>Gaa	p.K48E	EXO1_ENST00000518483.1_Missense_Mutation_p.K48E|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.K48E	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	48	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAAACTAGCCAAAGGTGAACC	0.418000								Editing and processing nucleases					6	84					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888783	51888783	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:51888783A>C	ENST00000453097.2	+	21	3041	c.2824A>C	c.(2824-2826)Atc>Ctc	p.I942L	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I969L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	942					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)		GCCAGATTTCATCTACCTGCG	0.527000													35	54					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171303595	171303595	+	Silent	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:171303595C>T	ENST00000367749.3	+	8	1203	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	291					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAACTGTATCCTCTGTGGGG	0.373000													28	40					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726846	32726846	+	Missense_Mutation	SNP	C	C	T	rs142243133	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr6:32726846C>T	ENST00000435145.2	-	3	488	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	143					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCGAGCAGACCAGCAGGTTG	0.552000													4	60					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262800	45262800	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:45262800C>G	ENST00000303230.4	-	8	1953	c.1896G>C	c.(1894-1896)atG>atC	p.M632I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	632						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGCCTGCACCATCTCCCTGT	0.468000													27	78					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23762469	23762469	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:23762469G>A	ENST00000336689.3	-	17	1668	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	ASAP3_ENST00000437606.2_Missense_Mutation_p.R533C|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.R46C	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	542	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGCACCGGCGTGCAAACCTA	0.567000													50	78					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146526	111146526	+	Silent	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:111146526G>A	ENST00000485317.1	-	3	1552	c.879C>T	c.(877-879)ctC>ctT	p.L293L	KCNA2_ENST00000369770.3_Silent_p.L293L|KCNA2_ENST00000316361.4_Silent_p.L293L|KCNA2_ENST00000440270.1_Silent_p.L293L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	293						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGATGACACGGAGGATGGCCA	0.537000													53	59					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231215	6231215	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:6231215G>A	ENST00000316375.2	+	2	258	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	70										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTCGGCAGGGCCGGAGGGC	0.607000													29	36					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836358	68836358	+	Missense_Mutation	SNP	G	G	T	rs132630309	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:68836358G>T	ENST00000374552.4	+	1	448	c.206G>T	c.(205-207)cGg>cTg	p.R69L	EDA_ENST00000374553.2_Missense_Mutation_p.R69L|EDA_ENST00000338901.3_Missense_Mutation_p.R69L|EDA_ENST00000527388.1_Missense_Mutation_p.R69L|EDA_ENST00000525810.1_Missense_Mutation_p.R69L|EDA_ENST00000524573.1_Missense_Mutation_p.R69L|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	69			R -> L (in ED1).		cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TCGGAGTTGCGGCGGGAACGT	0.662000													3	26					0.004672	0.00471919	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45387215	45387215	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr15:45387215C>G	ENST00000389039.6	-	32	4699	c.4314G>C	c.(4312-4314)gaG>gaC	p.E1438D	DUOX2_ENST00000603300.1_Missense_Mutation_p.E1438D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1438					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGTCGTTCTCCTCCACCT	0.572000													29	8					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793953	15793953	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:15793953G>A	ENST00000359621.4	+	7	737	c.712G>A	c.(712-714)Ggg>Agg	p.G238R	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	238	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CGTCAGCTTCGGGTCTCGCCT	0.602000													36	29					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642005	99642005	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr14:99642005G>A	ENST00000345514.2	-	3	1221	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	BCL11B_ENST00000443726.2_Missense_Mutation_p.R196W|BCL11B_ENST00000357195.3_Missense_Mutation_p.R390W	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	390						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCAGGAGCCGGTGCATAGGG	0.771000			T	TLX3	T-ALL								8	10					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	11986189	11986189	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:11986189C>T	ENST00000396505.2	-	8	1113	c.875G>A	c.(874-876)cGt>cAt	p.R292H	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Missense_Mutation_p.R292H|DKK3_ENST00000525493.1_Missense_Mutation_p.R306H|DKK3_ENST00000450094.2_Missense_Mutation_p.R264H	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	292					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ATCTTGGTCACGGCTCCCCAC	0.617000													23	30					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107974	168107974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:168107974G>A	ENST00000409195.1	+	9	10161	c.10072G>A	c.(10072-10074)Gga>Aga	p.G3358R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G3358R|XIRP2_ENST00000409273.1_Missense_Mutation_p.G3136R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3183					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTATGCAAAGGGAGAAACAAA	0.358000													37	84					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943994	52943994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:52943994C>T	ENST00000267119.5	-	2	544	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	159	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CACTTGGTCTCCAGTACCTGG	0.567000													24	59					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37692046	37692046	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr22:37692046G>T	ENST00000248901.6	+	4	361	c.174G>T	c.(172-174)atG>atT	p.M58I	CYTH4_ENST00000402997.1_Missense_Mutation_p.M58I|CYTH4_ENST00000405206.3_Missense_Mutation_p.M58I|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	58	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						ACAGCCGGATGGCCCAGAAGG	0.632000													8	13					0.00307968	0.00314253	1	1	0
PTEN	5728	broad.mit.edu	37	10	89717766	89717766	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:89717766T>G	ENST00000371953.3	+	7	2148	c.791T>G	c.(790-792)aTg>aGg	p.M264R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	264	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGAACAAGATGCTAAAAAAG	0.358000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			31	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615517	179615517	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:179615517A>C	ENST00000360870.5	-	46	11832	c.11610T>G	c.(11608-11610)aaT>aaG	p.N3870K	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9699							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGACACATTTTCAGGAG	0.368000													32	47					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35984826	35984826	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:35984826A>C	ENST00000297866.5	+	9	1621	c.1555A>C	c.(1555-1557)Atc>Ctc	p.I519L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	519										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTCAACAGCATCTGTAAAGC	0.368000													35	17					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534850	55534850	+	Splice_Site	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:55534850T>G	ENST00000220676.1	+	3	935		c.e3+2			NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)						axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGAAAGAGTAAGTCACTTA	0.403000													24	45					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034823	1034823	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:1034823G>A	ENST00000293894.3	+	3	893	c.778G>A	c.(778-780)Gac>Aac	p.D260N		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	260					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCAGAACATCGACTTCAGCAA	0.682000													11	19					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510842	5510842	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:5510842G>T	ENST00000322641.5	+	1	928	c.906G>T	c.(904-906)gaG>gaT	p.E302D	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACCAAGGAGATTCGGAGTC	0.448000													30	43					6.07407e-21	6.60225e-21	1	1	0
BLNK	29760	broad.mit.edu	37	10	97969640	97969640	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr10:97969640T>C	ENST00000224337.5	-	9	841	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	BLNK_ENST00000427367.2_Missense_Mutation_p.T234A|BLNK_ENST00000371176.2_Missense_Mutation_p.T211A|BLNK_ENST00000413476.2_Missense_Mutation_p.T234A	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	234	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGTGACTTGGTTTCCCAGGCC	0.582000													65	72					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079596	1079596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:1079596G>C	ENST00000264930.5	-	10	1356	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	438					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACCGGTTTGAACCCGCCAT	0.562000													21	201					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99963767	99963767	+	Silent	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:99963767C>T	ENST00000297565.4	+	4	1273	c.777C>T	c.(775-777)ccC>ccT	p.P259P	OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Silent_p.P380P|OSR2_ENST00000522510.1_Silent_p.P259P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	259					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACAAATGTCCCACATGTGGAA	0.443000													4	27					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812721	131812721	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr8:131812721C>T	ENST00000286355.5	-	15	5103	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G873E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1004					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCATTCCACTCCCTGGTTATT	0.448000										HNSCC(32;0.087)			69	138					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079555	1079555	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:1079555G>C	ENST00000264930.5	-	10	1397	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	452					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTCCCCGTGGGGATGGACTTC	0.587000													33	300					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94147545	94147545	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:94147545T>A	ENST00000297273.4	+	3	548	c.261T>A	c.(259-261)caT>caA	p.H87Q		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	87						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGATAAACATATTGCATTTA	0.303000													46	128					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632890	208632890	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:208632890A>C	ENST00000295417.3	-	2	1127	c.574T>G	c.(574-576)Tgt>Ggt	p.C192G		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	192					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCTCGCGACACTTGCACACG	0.706000													5	14					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937492	33937492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:33937492C>T	ENST00000330120.3	+	1	1002	c.647C>T	c.(646-648)gCg>gTg	p.A216V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	216						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCGGCCAAGGCGCTGTGTGTG	0.687000													18	41					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266137	41266137	+	Missense_Mutation	SNP	C	C	T	rs121913409		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:41266137C>T	ENST00000349496.5	+	3	414	c.134C>T	c.(133-135)tCt>tTt	p.S45F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(384)|p.S45del(53)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACAGCTCCTTCTCTGAGTGGT	0.498000	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	23					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	919893	919893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:919893G>A	ENST00000262301.11	-	9	1424	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	LMF1_ENST00000399843.2_Missense_Mutation_p.A469V|LMF1_ENST00000543238.1_Missense_Mutation_p.A232V|LMF1_ENST00000568897.1_Missense_Mutation_p.A252V	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	469						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTGGAAGGCCGCGAACCACAT	0.632000													15	10					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83250981	83250981	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:83250981A>G	ENST00000566620.1	+	5	805	c.515A>G	c.(514-516)aAg>aGg	p.K172R	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.K219R|CDH13_ENST00000428848.3_Missense_Mutation_p.K133R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	172	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAAGGTCCAAGTTCCGGCTC	0.463000													8	54					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34029011	34029011	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr21:34029011T>G	ENST00000382499.2	-	21	2897	c.2898A>C	c.(2896-2898)gaA>gaC	p.E966D	SYNJ1_ENST00000357345.3_Missense_Mutation_p.E927D|SYNJ1_ENST00000322229.7_Missense_Mutation_p.E927D|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E966D|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E922D	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	927	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TAAGTATAACTTCACCAAAAC	0.318000													13	18					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512562	112512562	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:112512562A>C	ENST00000261745.4	-	9	1031	c.783T>G	c.(781-783)gaT>gaG	p.D261E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	261						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACTGCCAGTCATCTGAGCTAA	0.388000													39	53					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134952	119134952	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:119134952G>T	ENST00000264245.4	+	12	4708	c.4176G>T	c.(4174-4176)ttG>ttT	p.L1392F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1392					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GTGGAGAGTTGGCAGAAAACA	0.502000													40	57					9.8876e-21	1.06318e-20	1	1	0
FAM73A	374986	broad.mit.edu	37	1	78340633	78340633	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:78340633C>A	ENST00000370791.3	+	16	1815	c.1783C>A	c.(1783-1785)Cgc>Agc	p.R595S	FAM73A_ENST00000443751.2_Missense_Mutation_p.R558S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	595						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACTCATTCGCCGCACTGAGCT	0.428000													28	27					9.39395e-14	9.78536e-14	1	1	0
STIM2	57620	broad.mit.edu	37	4	27010414	27010414	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr4:27010414T>G	ENST00000382009.3	+	11	1831	c.1564T>G	c.(1564-1566)Tta>Gta	p.L522V	STIM2_ENST00000237364.5_Missense_Mutation_p.L514V|STIM2_ENST00000467011.1_Missense_Mutation_p.L427V|STIM2_ENST00000412829.2_Missense_Mutation_p.L514V|STIM2_ENST00000465503.1_Missense_Mutation_p.L435V|STIM2_ENST00000467087.1_Missense_Mutation_p.L427V	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	427					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACAACTTGTTTACGAGAACG	0.413000													23	26					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716493	13716493	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:13716493T>G	ENST00000279593.3	-	13	3888	c.3679A>C	c.(3679-3681)Acg>Ccg	p.T1227P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1227					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCACCGTCGTGGAGTAGTTG	0.602000													31	50					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751195	26751195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:26751195C>T	ENST00000396641.2	+	2	624	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LRRC3B_ENST00000456208.2_Missense_Mutation_p.S11F|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S11F	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	11						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTAACCCGTTCCCTCTCCATG	0.478000													35	71					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84140598	84140598	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr6:84140598T>G	ENST00000369705.3	-	1	192	c.76A>C	c.(76-78)Aag>Cag	p.K26Q	ME1_ENST00000543031.1_5'UTR|ME1_ENST00000541327.1_5'UTR	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	26					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GGGTTTACCTTGTTGAGGTGA	0.721000													4	1					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321902	233321902	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:233321902C>G	ENST00000295463.3	+	5	595	c.518C>G	c.(517-519)gCc>gGc	p.A173G		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	173					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGCAGCACGCCTCGCCAGCC	0.632000													22	34					0	0	1	0	0
IFNA13	3447	broad.mit.edu	37	9	21367998	21367998	+	Silent	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:21367998C>T	ENST00000449498.1	-	1	77	c.12G>A	c.(10-12)tcG>tcA	p.S4S		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	3					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AAGCAAAGGGCGAGGCCATCA	0.542000													40	59					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574852	53574852	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:53574852T>C	ENST00000342160.3	-	67	10875	c.10418A>G	c.(10417-10419)cAg>cGg	p.Q3473R	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3473R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3473					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAATTAGCCTGTGCTTCTGA	0.562000													3	7					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311414	48311414	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr7:48311414G>A	ENST00000435803.1	+	17	2175	c.2151G>A	c.(2149-2151)atG>atA	p.M717I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	717					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCTTCTAATGATGGAAAAGA	0.254000													4	6					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428079	10428079	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr17:10428079G>A	ENST00000245503.5	-	34	5350	c.4966C>T	c.(4966-4968)Ctc>Ttc	p.L1656F	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1656F|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1656					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTACCTTGAGGATGCCTTGG	0.502000													67	66					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149243902	149243902	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:149243902G>A	ENST00000465804.1	-	7	1172	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	WWTR1_ENST00000467467.1_Missense_Mutation_p.H306Y|WWTR1_ENST00000360632.3_Missense_Mutation_p.H306Y	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	306					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCCTCGAATGATATGGCCCT	0.458000			T	CAMTA1	epitheliod hemangioendothelioma								12	33					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131484963	131484963	+	Silent	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:131484963G>A	ENST00000261654.5	+	9	1561	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	GPR133_ENST00000535015.1_Silent_p.L366L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	334					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCTTCTACTGCCTGGTTGGA	0.498000													24	40					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664004	169664004	+	RNA	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:169664004C>T	ENST00000483289.2	-	0	3290				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TGCCAGGGCTCATCCTAGTAA	0.498000													32	67					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674488	30674488	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr20:30674488C>T	ENST00000534862.1	+	10	1196	c.833C>T	c.(832-834)tCg>tTg	p.S278L	HCK_ENST00000518730.1_Missense_Mutation_p.S276L|HCK_ENST00000538448.1_Missense_Mutation_p.S277L|HCK_ENST00000520553.1_Missense_Mutation_p.S277L|HCK_ENST00000375862.2_Missense_Mutation_p.S297L|HCK_ENST00000375852.2_Missense_Mutation_p.S298L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	298	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGAGCATGTCGGTGGAGGCC	0.567000													19	16					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31437519	31437519	+	Splice_Site	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:31437519A>C	ENST00000373747.3	-	14	2426		c.e14+1		PUM1_ENST00000423018.2_Splice_Site|PUM1_ENST00000440538.2_Splice_Site|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000424085.2_Splice_Site|PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000373742.2_Splice_Site|PUM1_ENST00000257075.5_Splice_Site	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AATGGTTCTTACCCAGGTTTA	0.478000													107	114					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	T	rs121913413		TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:41266125C>T	ENST00000349496.5	+	3	402	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				3	34					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160464	68160464	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr16:68160464G>T	ENST00000349223.5	+	3	1576	c.1352G>T	c.(1351-1353)gGt>gTt	p.G451V	NFATC3_ENST00000575270.1_Missense_Mutation_p.G451V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G451V|NFATC3_ENST00000329524.4_Missense_Mutation_p.G451V	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	451	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAACTGAAGGTAGCCGAGGG	0.448000													34	49					1.60099e-16	1.70318e-16	1	1	0
RECQL5	9400	broad.mit.edu	37	17	73657119	73657119	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr17:73657119A>C	ENST00000420326.2	-	6	1061	c.902T>G	c.(901-903)gTg>gGg	p.V301G	RECQL5_ENST00000340830.5_Missense_Mutation_p.V301G|RECQL5_ENST00000423245.2_Missense_Mutation_p.V274G|RECQL5_ENST00000584999.1_Missense_Mutation_p.V301G|RECQL5_ENST00000317905.5_Missense_Mutation_p.V301G	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	301	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTTCTGCACCAGCGTTCT	0.498000								Other identified genes with known or suspected DNA repair function					8	121					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201477495	201477495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:201477495C>T	ENST00000374700.2	+	14	1668	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	476					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCAAGAATTCCTGCCAGAAA	0.448000													4	44					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806720	14806720	+	Silent	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr9:14806720G>A	ENST00000380881.4	-	19	4031	c.3216C>T	c.(3214-3216)ggC>ggT	p.G1072G	FREM1_ENST00000422223.2_Silent_p.G1071G|FREM1_ENST00000380880.3_Silent_p.G1071G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1071					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTCGAGGTAGCCAAACTGAG	0.453000													6	7					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054551	48054551	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chrX:48054551T>G	ENST00000311798.1	-	3	136	c.84A>C	c.(82-84)caA>caC	p.Q28H	SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGTCACAGACTTGTCTCCAGG	0.557000													42	14					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46400062	46400062	+	Silent	SNP	G	G	A	rs3092960	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:46400062G>A	ENST00000445132.2	+	2	1539	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	CCR2_ENST00000400888.2_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000292301.4_Intron	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	0					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CAACAAACACGCCTTCCACTG	0.438000													3	34					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216236929	216236929	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr2:216236929T>A	ENST00000354785.4	-	40	6786	c.6417A>T	c.(6415-6417)caA>caT	p.Q2139H	FN1_ENST00000346544.3_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.Q2139H|FN1_ENST00000359671.1_Missense_Mutation_p.Q2048H|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.Q1958H|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.Q2048H|FN1_ENST00000446046.1_Missense_Mutation_p.Q2023H|FN1_ENST00000443816.1_Missense_Mutation_p.Q1958H|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.Q1933H			P02751	FINC_HUMAN	fibronectin 1	2048	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGATCATTTGTTGCCCAACAC	0.537000													39	65					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890037	26890037	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:26890037C>A	ENST00000231021.4	-	9	1592	c.1420G>T	c.(1420-1422)Gtc>Ttc	p.V474F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	474	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGATGAAGACAGGGATGTGG	0.383000													35	199					9.80977e-26	1.078e-25	1	1	0
CYP1A1	1543	broad.mit.edu	37	15	75015123	75015123	+	Missense_Mutation	SNP	G	G	A	rs34045449	byFrequency	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr15:75015123G>A	ENST00000379727.3	-	2	514	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R106W|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R106W|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R106W			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	106					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTCGGGCCGGCCCTTGAAA	0.652000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				37	53					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869336	174869336	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr5:174869336G>A	ENST00000393752.2	-	2	1759	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	256					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.P256L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGAACTTTCCGGTTGAGAACA	0.478000													30	65					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876133	196876133	+	Silent	SNP	T	T	G			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr1:196876133T>G	ENST00000367416.2	+	4	716	c.579T>G	c.(577-579)ggT>ggG	p.G193G	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TAGTGTGTGGTGAAGATGGCT	0.343000													12	13					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99574349	99574349	+	Silent	SNP	G	G	A			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr13:99574349G>A	ENST00000376460.1	-	6	618	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	DOCK9_ENST00000448493.2_Silent_p.L192L|DOCK9_ENST00000339416.2_Silent_p.L181L|DOCK9_ENST00000442173.1_Silent_p.L180L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	181	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGTACAGCCAGCCATGC	0.552000													3	5					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369503	20369503	+	RNA	SNP	C	C	G	rs8103002	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr19:20369503C>G	ENST00000593655.1	-	0	199																											TTATTGACTGCTGTAGTGGTA	0.458000													5	118					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421523	150421528	+	In_Frame_Del	DEL	CCTCCT	CCTCCT	-	rs139473500	by1000genomes	TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr3:150421523_150421528delCCTCCT	ENST00000295910.6	-	1	210_215	c.158_163delAGGAGG	c.(157-165)gtg>g	p.EEV53del	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	53	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctccaccacctcctcctcctcctc	0.602													8	21	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119148884	119148895	+	In_Frame_Del	DEL	TGAATTATACTG	TGAATTATACTG	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr11:119148884_119148895delTGAATTATACTG	ENST00000264033.4	+	8	1480_1491	c.1104_1115delTGAATTATACTG	c.(1102-1116)tat>ta	p.YELYC368del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	368	Asp/Glu-rich (acidic).|Linker.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Y371H(17)|p.E366_Q409del(13)|p.?(3)|p.Y371D(3)|p.E366_K477del(1)|p.L370_Y371insL(1)|p.Y371C(1)|p.E369_D390del(1)|p.Y371S(1)|p.E369_Q409del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AGGAACAATATGAATTATACTGTGAGATGGGC	0.316			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				52	8	---	---	---	---					
NUDT4	11163	broad.mit.edu	37	12	93788429	93788429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr12:93788429delC	ENST00000337179.5	+	2	584	c.144delC	c.(142-144)gtfs	p.V48fs	NUDT4_ENST00000548662.1_5'UTR|NUDT4_ENST00000549992.1_5'UTR|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.V48fs|NUDT4_ENST00000547014.1_5'UTR	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	48	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTGGATTGTCCCAGGAGGAG	0.507													2	4	---	---	---	---					
LINC00470	56651	broad.mit.edu	37	18	1363777	1363777	+	RNA	DEL	C	C	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr18:1363777delC	ENST00000412816.3	-	0	307																				pancreas(1)	1						CCATTTGATACTAAAGTATGT	0.348													10	13	---	---	---	---					
SOX10	6663	broad.mit.edu	37	22	38369705	38369715	+	Frame_Shift_Del	DEL	ACTGGGGGCGG	ACTGGGGGCGG	-			TCGA-EB-A42Y-01A-12D-A24R-08	TCGA-EB-A42Y-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eef3ec1-b867-4eed-93d8-a499eef49d02	2c681041-b0bf-4657-b2c7-37f3350e70ea	g.chr22:38369705_38369715delACTGGGGGCGG	ENST00000396884.2	-	4	1470_1480	c.1188_1198delCCGCCCCCAGT	c.(1186-1200)tcttfs	p.SRPQF396fs	SOX10_ENST00000360880.2_Frame_Shift_Del_p.SRPQF396fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	396						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GAGTAGTCAAACTGGGGGCGGGAGATGGAGG	0.640													9	32	---	---	---	---					
