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
AL132709.5	0	broad.mit.edu	37	14	101423566	101423566	+	RNA	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:101423566G>A	ENST00000556637.1	+	0	464				SNORD114-6_ENST00000364393.1_RNA																							CTGGAACTCTGAGGTCCAAGA	0.333000													5	31					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													5	13					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													11	110					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606074	43606074	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	ENST00000360835.3	-	19	2682	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	852	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGAACATCGCCGCACTCAT	0.632000													45	14					0	0	1	0	0
RIMS1	0	broad.mit.edu	37	6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	ENST00000264839.7	+	17	2854	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	952					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCACCGCTCACGTTCAGTATC	0.463000													12	18					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040420	34040420	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:34040420C>T	ENST00000389232.4	+	54	8165	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTTCAACAGCGGGAAAATGA	0.567000													4	70					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	ENST00000327671.5	-	4	1404	c.773A>G	c.(772-774)aAt>aGt	p.N258S	FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	258					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438000													59	76					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	ENST00000584396.1	-	2	176	c.88G>C	c.(88-90)Gat>Cat	p.D30H	VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473000													77	87					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046568	73046568	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:73046568C>G	ENST00000335350.6	+	5	1091	c.675C>G	c.(673-675)tgC>tgG	p.C225W	UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	225	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTATACCTGCGTGGCCAAGA	0.627000													7	320					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	ENST00000286298.4	+	2	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353000													44	37					0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587000													9	24					1.2476e-16	1.32013e-16	1	1	0
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													8	57					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	ENST00000231021.4	-	12	2151	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					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						GCCTTCATCGTTGTAGGTCAC	0.428000													36	120					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	ENST00000258456.1	+	1	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	224						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672000													23	62					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657000													4	9					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	56					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	22					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	ENST00000373245.1	+	5	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	143					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	ATCCGCATCAATGGGCAGCCC	0.657000													39	136					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	ENST00000357605.2	+	1	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512000													17	37					2.35188e-11	2.40473e-11	1	1	0
TMEM92	162461	broad.mit.edu	37	17	48356660	48356660	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:48356660G>A	ENST00000300433.3	+	6	581	c.471G>A	c.(469-471)ccG>ccA	p.P157P	TMEM92_ENST00000507382.1_Silent_p.P157P	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGACAACCCGGCCTTCTGAG	0.597000													4	177					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	ENST00000205890.5	+	2	1131	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	265	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCGGGCCTCGGCCCCTACAG	0.652000													41	64					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38338820	38338820	+	Silent	SNP	C	C	T	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	ENST00000322350.5	+	3	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_ENST00000354891.3_Silent_p.G76G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	76	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAGGTTGGCGCAGATAAAT	0.532000													24	25					0	0	1	0	0
C2orf68	388969	broad.mit.edu	37	2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	ENST00000306336.5	-	1	67	c.23G>C	c.(22-24)cGg>cCg	p.R8P	C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731000													6	18					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624672	39624672	+	Splice_Site	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	ENST00000265708.4	-	13	1414	c.1311_splice	c.e13+1	p.L437_splice	ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343000													70	81					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	ENST00000312428.6	-	35	5793	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1898					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGAGGATGTTTGCTCAGT	0.358000													13	35					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	26					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48536663	48536663	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	ENST00000537810.1	-	49	7208	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L			O94915	FRYL_HUMAN	FRY-like	2202					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAATCTGTAGTAATGATTGC	0.313000													34	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	ENST00000366574.2	+	47	7510	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P	RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2398	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGACCTCTTGGGACGC	0.453000													16	13					0	0	1	0	0
IGKV6D-21	0	broad.mit.edu	37	2	90060991	90060991	+	RNA	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:90060991T>C	ENST00000436451.2	+	0	405																											AGTAGTAGTTTACCTCACACT	0.468000													49	86					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	ENST00000361835.3	-	5	976	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	273						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATCTCGGGCTGTCAGATA	0.512000													126	145					1.13993e-56	1.23492e-56	1	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113181323	113181323	+	Silent	SNP	A	A	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	ENST00000261965.3	-	13	1674	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	496					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATCATGACAAACTTGGTGCA	0.398000													9	38					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45732984	45732984	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr21:45732984G>A	ENST00000403390.1	+	6	692	c.692G>A	c.(691-693)cGc>cAc	p.R231H	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.R184H			P17858	K6PL_HUMAN	phosphofructokinase, liver	184					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.R231L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCTCCACCGCATCATGGAG	0.667000													4	172					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71243390	71243390	+	Silent	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:71243390C>T	ENST00000359042.2	+	6	1934	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	C17orf80_ENST00000535032.2_Silent_p.C580C|C17orf80_ENST00000577615.1_Silent_p.C544C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	580						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			aaaaattgtgccgacccctgC	0.463000													4	105					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	ENST00000242786.5	+	15	2010	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	644					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGGTGCGCGTGTTCCAAGG	0.652000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	ENST00000422556.1	-	3	1026	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	226					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672000													18	49					0	0	1	0	0
P2RY12	0	broad.mit.edu	37	3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	ENST00000302632.3	-	3	829	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	177					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368000													18	49					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729531	18729531	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	ENST00000440756.2	-	3	945	c.843A>T	c.(841-843)ccA>ccT	p.P281P	PSD3_ENST00000523619.1_Silent_p.P216P|PSD3_ENST00000327040.8_Silent_p.P281P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	281					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567000													24	110					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	ENST00000579490.1	+	8	1330	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577000									Kartagener syndrome				10	102					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	ENST00000509894.1	+	5	1366	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000369798.2_Missense_Mutation_p.M179I			P33981	TTK_HUMAN	TTK protein kinase	179					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348000													20	42					0	0	1	0	0
PLAC9	219348	broad.mit.edu	37	10	81901857	81901857	+	Silent	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	ENST00000372263.3	+	2	126	c.84T>A	c.(82-84)ccT>ccA	p.P28P	PLAC9_ENST00000372267.2_Silent_p.P28P|PLAC9_ENST00000372270.2_5'UTR	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	28						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532000													8	51					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754106	49754106	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418000													26	143					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113347659	113347659	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:113347659C>T	ENST00000297405.5	-	45	7308	c.7064G>A	c.(7063-7065)gGc>gAc	p.G2355D	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2355	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCGGTATTGCCACTGAACTG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	99					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664898	123664898	+	Silent	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	ENST00000542236.1	+	3	2232	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_ENST00000314218.3_Silent_p.T617T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	617					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363000									Bardet-Biedl syndrome				12	40					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131981311	131981311	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:131981311G>A	ENST00000358087.5	+	2	716	c.664G>A	c.(664-666)Gag>Aag	p.E222K	POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron			Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	212							ATP binding										ATATCAGCATGAGGTGGGTTT	0.358000													6	29					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100465834	100465834	+	Silent	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	ENST00000200457.4	+	3	702	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	114					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662000													19	40					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	rs141704732		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572000													5	30					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459580	105459580	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:105459580T>A	ENST00000351513.2	-	3	707	c.575A>T	c.(574-576)cAt>cTt	p.H192L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	192					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTTCCGCATGGACCTGGGC	0.453000													6	103					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185376	127185376	+	Silent	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	ENST00000371124.3	-	1	1006	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	270						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512000													49	27					1.51926e-22	1.6265e-22	1	1	0
CARD11	84433	broad.mit.edu	37	7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	ENST00000396946.4	-	15	2265	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	621					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTGGGAGGAGGAGGAGGA	0.607000			Mis		DLBCL								27	63					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	10					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57340270	57340270	+	Silent	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	ENST00000342756.5	+	4	1126	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	135					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378000													9	205					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	ENST00000397061.3	+	1	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	74	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751000													9	30					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	ENST00000375241.1	-	9	1308	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	286	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTGCCATCCGCAAAGAAAAG	0.413000													3	32					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAGCAATTCTATTAAAAGAA	0.294000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	5					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			72	9					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	ENST00000336727.3	+	2	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	38	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGCTTTCGGGACAGGCACC	0.637000													18	170					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	ENST00000391967.2	-	6	1539	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	413						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597000													64	181					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	ENST00000298047.6	+	27	13533	c.13516G>T	c.(13516-13518)Gtg>Ttg	p.V4506L	FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4506	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACGGATTTGGTGGGCCCGCC	0.582000										TCGA Ovarian(4;0.039)			23	36					9.95505e-16	1.02944e-15	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	ENST00000450053.3	+	16	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	809							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGCCATCTTTCACGAAGCC	0.657000													6	10					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	ENST00000494774.1	+	6	566	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	182					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCTGGGCCAAAGCAGAGGTG	0.547000													27	41					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	ENST00000505019.1	-	22	5335	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTCTGAGCCAGCATGCAA	0.313000													13	116					1.5739e-10	1.59138e-10	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43132589	43132589	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:43132589T>G	ENST00000267890.6	-	4	368	c.260A>C	c.(259-261)gAt>gCt	p.D87A	TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	87	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTTGAATCGATCATTCCTCCC	0.323000													5	207					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	ENST00000312422.2	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363000													62	85					1.38814e-16	1.45196e-16	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186643728	186643728	+	Silent	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	ENST00000367468.5	-	10	1708	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	524					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAGAACATATAACATTACCCA	0.458000													21	105					0	0	1	0	0
CELP	0	broad.mit.edu	37	9	135961796	135961796	+	RNA	SNP	C	C	T	rs10901233	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:135961796C>T	ENST00000411440.2	+	0	631					NR_001275.2																						CAAGACAGGACAGTCTCTAAG	0.597000													11	20					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383000													19	12					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	ENST00000512729.1	-	5	858	c.484T>C	c.(484-486)Tct>Cct	p.S162P	TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	162							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTAAAGAGTATTTTGCA	0.383000													41	57					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127668930	127668930	+	Silent	SNP	G	G	C	rs139849197		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	ENST00000249363.3	-	2	2021	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	588						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547000													20	21					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	ENST00000291900.2	-	11	2102	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	566					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TTGAAATTGAGGAACATCTCG	0.567000													39	175					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	ENST00000589042.1	-	73	21355	c.21131C>T	c.(21130-21132)cCc>cTc	p.P7044L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6727	Ig-like 52.						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)			TGTGAAAGAGGGAGGAACTGC	0.423000													12	8					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													8	14					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	ENST00000391987.1	-	5	1046	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	227							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522000													26	117					0	0	1	0	0
FAHD2CP	0	broad.mit.edu	37	2	96687233	96687234	+	RNA	DEL	AG	AG	-			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:96687233_96687234delAG	ENST00000607780.1	+	0	1061																											TGAAAAGCAAAGAGAGCAAGGG	0.559													3	6	---	---	---	---					
CDKL3	51265	broad.mit.edu	37	5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	ENST00000521118.1	-	3	468	c.354delT	c.(352-354)agfs	p.S118fs	CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	118	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338													2	4	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													10	246	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-	rs12462774	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)cacafs	p.HA92fs	LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	92	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			12	193	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---					
