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
RGS4	5999	broad.mit.edu	37	1	163043410	163043410	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:163043410G>A	ENST00000421743.2	+	5	827	c.667G>A	c.(667-669)Gag>Aag	p.E223K	RGS4_ENST00000367906.3_Missense_Mutation_p.E108K|RGS4_ENST00000527809.1_Missense_Mutation_p.E108K|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Missense_Mutation_p.E126K|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Intron	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	126					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCAACCAAAGAGGTAGGttt	0.343000													6	10					0	0	0.00198382	0	0
MYO18B	84700	broad.mit.edu	37	22	26422879	26422879	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26422879C>T	ENST00000335473.7	+	43	7189	c.6939C>T	c.(6937-6939)atC>atT	p.I2313I	MYO18B_ENST00000536101.1_Silent_p.I2313I|MYO18B_ENST00000407587.2_Silent_p.I2314I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2313						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCTGGAAATCGAAGGGGCCG	0.592000													8	16					0	0	0.000274275	0	0
BEND2	139105	broad.mit.edu	37	X	18238860	18238860	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:18238860C>G	ENST00000380033.4	-	1	143	c.11G>C	c.(10-12)aGg>aCg	p.R4T	BEND2_ENST00000380030.3_Missense_Mutation_p.R4T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	4								p.R4M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCCTGGGTCCTCTCTGACAT	0.612000													20	52					0	0	0.00047179	0	0
DPT	1805	broad.mit.edu	37	1	168698194	168698194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:168698194C>T	ENST00000367817.3	-	1	308	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	73	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					AGGCGTAGTTCCATTGTCTGT	0.587000													25	54					0	0	0.00127121	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122964820	122964820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:122964820G>A	ENST00000543897.1	-	9	2698	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	ZCCHC8_ENST00000336229.4_Nonsense_Mutation_p.Q353*|ZCCHC8_ENST00000536306.1_Nonsense_Mutation_p.Q115*			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	353						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTTTTATTCTGTTGTATTTCT	0.353000													5	9					0	0	0.00116845	0	0
TACC2	10579	broad.mit.edu	37	10	123846454	123846454	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:123846454G>A	ENST00000369005.1	+	4	4779	c.4439G>A	c.(4438-4440)gGa>gAa	p.G1480E	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1480E|TACC2_ENST00000515603.1_Missense_Mutation_p.G1480E|TACC2_ENST00000515273.1_Missense_Mutation_p.G1480E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1480E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1480						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGTTGGCTGGAGAGGCTGAG	0.592000													5	37					0	0	0.000602214	0	0
SGPP2	130367	broad.mit.edu	37	2	223423243	223423243	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:223423243G>A	ENST00000321276.7	+	5	912	c.826G>A	c.(826-828)Gac>Aac	p.D276N		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	276					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AACCCGGGCGGACACCACCAC	0.547000													33	137					0	0	0.000692331	0	0
GPR50	9248	broad.mit.edu	37	X	150349793	150349793	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:150349793G>A	ENST00000218316.3	+	2	1807	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	580	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCAGCTGGAGTCTGACAC	0.562000													33	50					0	0	0.000491102	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62670703	62670703	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:62670703G>A	ENST00000337910.5	-	4	575	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.L80F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	80	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAAAGCCTGAGAGAAACACTC	0.483000													6	39					0	0	0.00198382	0	0
DAGLA	747	broad.mit.edu	37	11	61490429	61490429	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61490429C>T	ENST00000257215.5	+	4	522	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	136					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAATGTCACCCTCGGTACGTC	0.592000													28	25					0	0	0.00127121	0	0
PCSK2	5126	broad.mit.edu	37	20	17446151	17446151	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17446151C>T	ENST00000262545.2	+	11	1698	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.T442T|PCSK2_ENST00000536609.1_Silent_p.T426T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	461					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.T461I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGGAAAACCGTGCCTGAGA	0.567000													6	26					0	0	0.00198382	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486830	173486830	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173486830G>A	ENST00000367714.3	-	23	3175	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	918					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAGGTAGGAGATAAACTATG	0.388000													11	91					0	0	0.00185496	0	0
SUSD2	56241	broad.mit.edu	37	22	24584023	24584023	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:24584023G>A	ENST00000358321.3	+	13	2522	c.2261G>A	c.(2260-2262)gGc>gAc	p.G754D		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	754	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGTGACAACGGCTACAGCCTG	0.637000													46	107					0	0	0.000781405	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185144	48185144	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:48185144C>T	ENST00000418331.2	+	23	4045	c.3693C>T	c.(3691-3693)ccC>ccT	p.P1231P		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1231	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGAGTCCTCCCGAATCGCCGA	0.488000													5	32					0	0	0.000602214	0	0
ZNF341	84905	broad.mit.edu	37	20	32332928	32332928	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:32332928C>T	ENST00000375200.1	+	3	527	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ZNF341_ENST00000342427.2_Silent_p.L54L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATGTATTTCTCTGCGGGAAGT	0.517000													26	100					0	0	0.001512	0	0
MXRA5	25878	broad.mit.edu	37	X	3241612	3241612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:3241612C>T	ENST00000217939.6	-	5	2268	c.2114G>A	c.(2113-2115)gGa>gAa	p.G705E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	705						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCTTCATCTCCCATGCCCGA	0.517000													7	14					0	0	0.000157383	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371190	97371190	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:97371190G>A	ENST00000371224.2	-	16	2070	c.1933C>T	c.(1933-1935)Cat>Tat	p.H645Y	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.H643Y	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	645	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GGGCCTGCATGAATTTTTACC	0.448000													22	102					0	0	0.00229938	0	0
VPREB1	7441	broad.mit.edu	37	22	22599458	22599458	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22599458C>T	ENST00000403807.3	+	2	286	c.147C>T	c.(145-147)atC>atT	p.I49I	VPREB1_ENST00000302273.2_Silent_p.I48I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	49	Complementarity-determining-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGACATCGGTGTGTACA	0.617000													42	94					0	0	0.000781405	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684702	108684702	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:108684702G>A	ENST00000218006.2	-	7	1870	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	527					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACACTGGCACGACTTCCTCTC	0.408000													43	64					0	0	0.000781405	0	0
KCNT1	57582	broad.mit.edu	37	9	138649043	138649043	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:138649043G>A	ENST00000298480.5	+	8	716	c.642G>A	c.(640-642)ctG>ctA	p.L214L	KCNT1_ENST00000371757.2_Silent_p.L214L|KCNT1_ENST00000490355.2_Silent_p.L195L|KCNT1_ENST00000263604.3_Silent_p.L195L|KCNT1_ENST00000488444.2_Silent_p.L195L|KCNT1_ENST00000487664.1_Silent_p.L166L|KCNT1_ENST00000486577.2_Silent_p.L175L|KCNT1_ENST00000491806.2_Silent_p.L181L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	214						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTCCTGGAGATGATCA	0.662000													44	59					0	0	0.000781405	0	0
DDX27	55661	broad.mit.edu	37	20	47858706	47858706	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47858706C>T	ENST00000371764.4	+	18	2181	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	724						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCAAGCGGGCCCGAGCAATGC	0.567000													9	39					0	0	0.000274275	0	0
SRPX2	27286	broad.mit.edu	37	X	99919927	99919927	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:99919927G>A	ENST00000373004.3	+	5	940	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	171	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGATGGAGTGGAGGCGAGCCT	0.522000													4	7					0	0	0.000602214	0	0
SP100	6672	broad.mit.edu	37	2	231380144	231380144	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231380144C>T	ENST00000264052.5	+	25	2784	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	810					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAATAACACCGCTGCAGCT	0.428000													14	41					0	0	0.000422831	0	0
UPF1	5976	broad.mit.edu	37	19	18976152	18976152	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18976152C>T	ENST00000262803.5	+	21	3184	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	UPF1_ENST00000599848.1_Missense_Mutation_p.A982V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	982					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATGATCAGTGCCGGCCCTAGC	0.587000													13	37					0	0	0.00136819	0	0
COL3A1	1281	broad.mit.edu	37	2	189852835	189852835	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189852835G>A	ENST00000304636.3	+	6	727	c.557G>A	c.(556-558)gGt>gAt	p.G186D	COL3A1_ENST00000317840.5_Missense_Mutation_p.G186D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	186	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCCCCTGGTACATCTGGT	0.388000													18	34					0	0	0.00188189	0	0
PTPRG	5793	broad.mit.edu	37	3	62204658	62204658	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:62204658G>A	ENST00000474889.1	+	13	2665		c.e13+1		PTPRG_ENST00000295874.10_Splice_Site	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTTACTGGAGGTAAGCCAGGC	0.562000													38	101					0	0	0.000589545	0	0
APPL1	26060	broad.mit.edu	37	3	57294004	57294004	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:57294004C>T	ENST00000288266.3	+	17	1762	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	539	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TAACATCTTTCGTATGACAGA	0.378000													17	51					0	0	0.00074312	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090574	22090574	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22090574C>T	ENST00000542354.1	+	0	246																											GCGGAGCACCCACATTTCTTT	0.478000													14	108					0	0	0.000422831	0	0
PRR16	51334	broad.mit.edu	37	5	120021869	120021869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:120021869C>T	ENST00000379551.2	+	3	668	c.311C>T	c.(310-312)cCa>cTa	p.P104L	PRR16_ENST00000446965.1_Missense_Mutation_p.P57L|PRR16_ENST00000407149.2_Missense_Mutation_p.P127L|PRR16_ENST00000505123.1_Missense_Mutation_p.P57L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	127	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCACCTCCTCCAAGGTTGACA	0.512000													13	37					0	0	0.000422831	0	0
FAM81A	145773	broad.mit.edu	37	15	59813483	59813483	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:59813483C>T	ENST00000288228.5	+	9	1200	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	338										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AGCATAGGATCCCTCAGGCAA	0.443000													14	39					0	0	0.000422831	0	0
PTEN	5728	broad.mit.edu	37	10	89624249	89624249	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:89624249T>C	ENST00000371953.3	+	1	1380	c.23T>C	c.(22-24)aTc>aCc	p.I8T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	8					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.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(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)		ATCAAAGAGATCGTTAGCAGA	0.488000		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)			30	144					0	0	0.00195071	0	0
IHH	3549	broad.mit.edu	37	2	219920036	219920036	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219920036G>A	ENST00000295731.5	-	3	1128	c.1129C>T	c.(1129-1131)Ccg>Tcg	p.P377S		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	377					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCCCCGGAGTCCAGCTG	0.662000													9	16					0	0	0.000442599	0	0
PRR11	55771	broad.mit.edu	37	17	57262837	57262837	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:57262837C>T	ENST00000262293.4	+	4	628	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	106										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTTCCATCTCGTATCTGCCA	0.348000													33	66					0	0	0.000814825	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441394	6441394	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6441394G>A	ENST00000262483.8	-	2	118	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	ACKR6_ENST00000421306.3_Missense_Mutation_p.P11S	NM_031220.3	NP_112497.2																					CCGCCCGGGGGAGGACCACCT	0.557000													8	19					0	0	0.000157383	0	0
PELP1	27043	broad.mit.edu	37	17	4576113	4576113	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4576113G>A	ENST00000301396.4	-	16	2830	c.2605C>T	c.(2605-2607)Cct>Tct	p.P869S	PELP1_ENST00000436683.2_Missense_Mutation_p.P578S|PELP1_ENST00000574876.1_Missense_Mutation_p.P725S|PELP1_ENST00000269230.7_Missense_Mutation_p.P635S|PELP1_ENST00000572293.1_Missense_Mutation_p.P775S			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	725	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAGGGCCAGGAAGAAGCCGG	0.632000													9	19					0	0	0.000274275	0	0
SCN11A	11280	broad.mit.edu	37	3	38968362	38968362	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38968362G>A	ENST00000302328.3	-	4	747	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SCN11A_ENST00000444237.2_Silent_p.F183F|SCN11A_ENST00000456224.3_Silent_p.F183F|SCN11A_ENST00000450244.1_Silent_p.F183F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	183					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATCCAGAATGAAACCTCTTG	0.343000													29	97					0	0	0.00127121	0	0
FUT3	2525	broad.mit.edu	37	19	5844648	5844648	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:5844648C>A	ENST00000303225.6	-	3	837	c.203G>T	c.(202-204)cGg>cTg	p.R68L	FUT3_ENST00000458379.2_Missense_Mutation_p.R68L|FUT3_ENST00000589918.1_Missense_Mutation_p.R68L|FUT3_ENST00000589620.1_Missense_Mutation_p.R68L	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	68			W -> R (in Le(-); dbSNP:rs812936).		protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGCCATGTCCGTAGCAGGAT	0.647000													6	108					0.00198382	0.0087276	0.00198382	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337048	13337048	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:13337048C>T	ENST00000380622.2	-	1	1470	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	336					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCGACAGCGGCCTGTACTGTG	0.398000													38	73					0	0	0.00222228	0	0
RRH	10692	broad.mit.edu	37	4	110763678	110763678	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:110763678C>T	ENST00000317735.4	+	6	808	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	258					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTTATTCCATCGTGTGCTTAT	0.413000													16	65					0	0	0.000566183	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698219	111698219	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:111698219C>G	ENST00000340433.2	+	1	493	c.263C>G	c.(262-264)tCt>tGt	p.S88C		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	88							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAAATCTCTAATCCTGCA	0.448000													11	22					0	0	0.00136819	0	0
CMTM5	116173	broad.mit.edu	37	14	23848245	23848245	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23848245C>T	ENST00000359320.3	+	3	729	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CMTM5_ENST00000397227.3_Silent_p.F44F|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.F162F|CMTM5_ENST00000555731.1_Silent_p.F57F|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	162	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCAGGACTTCCTGCGCTGTG	0.607000													5	25					0	0	0.000602214	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799099	57799099	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57799099C>T	ENST00000302622.3	+	1	698	c.675C>T	c.(673-675)atC>atT	p.I225I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ATGGCAACATCGTCTGGACAC	0.557000													30	49					0	0	0.001512	0	0
LPIN1	23175	broad.mit.edu	37	2	11922626	11922626	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11922626G>T	ENST00000256720.2	+	7	1242	c.1149G>T	c.(1147-1149)agG>agT	p.R383S	LPIN1_ENST00000396097.1_Missense_Mutation_p.R113S|LPIN1_ENST00000396098.1_Missense_Mutation_p.R425S|LPIN1_ENST00000425416.2_Missense_Mutation_p.R389S|LPIN1_ENST00000449576.2_Missense_Mutation_p.R468S|LPIN1_ENST00000396099.1_Missense_Mutation_p.R425S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	383					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTCCTTCCAGGAAAAGAGGTA	0.522000													19	62					3.01185e-09	1.34845e-08	0.000586117	1	0
WDR7	23335	broad.mit.edu	37	18	54358469	54358469	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:54358469C>T	ENST00000254442.3	+	8	951	c.740C>T	c.(739-741)tCc>tTc	p.S247F	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S247F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	247										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGACTATTCCTTGTTGTGT	0.403000													20	140					0	0	0.000586117	0	0
TLL1	7092	broad.mit.edu	37	4	166924569	166924569	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:166924569G>A	ENST00000061240.2	+	6	1306	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TLL1_ENST00000513213.1_Missense_Mutation_p.G220E|TLL1_ENST00000507499.1_Missense_Mutation_p.G220E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	220	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCGGCGAGGAAATGGACCT	0.438000													8	49					0	0	0.000157383	0	0
ACOX3	8310	broad.mit.edu	37	4	8401339	8401339	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:8401339G>A	ENST00000356406.5	-	8	894	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	ACOX3_ENST00000413009.2_Missense_Mutation_p.L273F|ACOX3_ENST00000503233.1_Missense_Mutation_p.L273F	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	273					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.L273F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGGTTCAGAAGGCTCTGGCGA	0.602000													6	71					0	0	0.000157383	0	0
TIAM2	26230	broad.mit.edu	37	6	155450882	155450882	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:155450882C>T	ENST00000461783.3	+	6	1798	c.525C>T	c.(523-525)gtC>gtT	p.V175V	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.V175V|TIAM2_ENST00000360366.4_Silent_p.V175V|TIAM2_ENST00000318981.5_Silent_p.V175V|TIAM2_ENST00000456144.1_Silent_p.V175V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	175					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTAAGGGTCGAGTTCCACA	0.587000													12	23					0	0	0.00185496	0	0
OR10J5	127385	broad.mit.edu	37	1	159505126	159505126	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159505126G>A	ENST00000334857.2	-	1	716	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATTTGAAGGATGGAAGAGA	0.453000													7	40					0	0	0.000274275	0	0
CARD8	22900	broad.mit.edu	37	19	48735002	48735002	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:48735002C>T	ENST00000391898.3	-	5	499	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	CARD8_ENST00000359009.4_Missense_Mutation_p.E48K|CARD8_ENST00000521613.1_Missense_Mutation_p.E103K|CARD8_ENST00000447740.2_Missense_Mutation_p.E103K|CARD8_ENST00000520153.1_Missense_Mutation_p.E103K|CARD8_ENST00000520753.1_Missense_Mutation_p.E153K|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Missense_Mutation_p.E153K|CARD8_ENST00000520015.1_Missense_Mutation_p.E153K|ZNF114_ENST00000597695.1_Intron	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	48					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TAATCTTCTTCGATCTCAAAA	0.358000													39	50					0	0	0.00148497	0	0
F3	2152	broad.mit.edu	37	1	95007189	95007189	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:95007189C>T	ENST00000334047.7	-	1	167	c.4G>A	c.(4-6)Gag>Aag	p.E2K	F3_ENST00000370207.4_Missense_Mutation_p.E2K|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	2					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCAGGGGTCTCCATGTCTACC	0.741000													11	20					0	0	0.000308642	0	0
PRDM1	639	broad.mit.edu	37	6	106552989	106552989	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:106552989C>T	ENST00000369096.4	+	5	1188	c.954C>T	c.(952-954)atC>atT	p.I318I	PRDM1_ENST00000369089.3_Silent_p.I184I|PRDM1_ENST00000369091.2_Silent_p.I282I	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	318					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTACGGGATCGAGAGACCCA	0.607000			"""D, N, Mis, F, S"""		DLBCL								38	61					0	0	0.00111076	0	0
GPR137	56834	broad.mit.edu	37	11	64055847	64055847	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64055847C>T	ENST00000539851.1	+	6	1286	c.819C>T	c.(817-819)taC>taT	p.Y273Y	GPR137_ENST00000438980.2_Silent_p.Y273Y|GPR137_ENST00000377702.4_Silent_p.Y223Y|GPR137_ENST00000313074.3_Silent_p.Y273Y|GPR137_ENST00000411458.1_Silent_p.Y331Y	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	273						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACAAAGGCTACCTGGTATTTG	0.637000													45	64					0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76788998	76788998	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:76788998G>A	ENST00000287239.4	+	18	4905	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	KAT6B_ENST00000372711.1_Silent_p.E1289E|KAT6B_ENST00000372725.1_Silent_p.E1180E|KAT6B_ENST00000372724.1_Silent_p.E1180E|KAT6B_ENST00000372714.1_Silent_p.E1180E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1472					histone H3 acetylation|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 factor binding|zinc ion binding										CGAACCCAGAGGTCTTAATGG	0.517000													9	46					0	0	0.00185496	0	0
PIAS2	9063	broad.mit.edu	37	18	44424774	44424774	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44424774C>A	ENST00000585916.1	-	7	889	c.890G>T	c.(889-891)cGg>cTg	p.R297L	PIAS2_ENST00000545673.1_Missense_Mutation_p.R7L|PIAS2_ENST00000324794.7_Missense_Mutation_p.R297L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	297	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TGTAAGCTGCCGTACAAGATA	0.303000													6	73					0.00198382	0.0087276	0.00198382	1	0
PAPPA	5069	broad.mit.edu	37	9	118997420	118997420	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:118997420C>T	ENST00000328252.3	+	7	2605	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	746					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCATAGGTCATCCTGATGT	0.517000													20	41					0	0	0.00047179	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61977904	61977904	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61977904G>A	ENST00000244930.4	+	2	139	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	25						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCAAACTCCTGGAGGACATGG	0.393000													36	68					0	0	0.000814825	0	0
ATP8B1	5205	broad.mit.edu	37	18	55355657	55355657	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:55355657T>C	ENST00000536015.1	-	13	1422	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	ATP8B1_ENST00000283684.4_Missense_Mutation_p.K435E|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	435					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTTCTAGCTTTTGCGGGTGTG	0.443000													37	69					0	0	0.00195071	0	0
ZFX	7543	broad.mit.edu	37	X	24197304	24197304	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:24197304T>C	ENST00000379177.1	+	6	490	c.63T>C	c.(61-63)gcT>gcC	p.A21A	ZFX_ENST00000540034.1_Silent_p.A60A|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Silent_p.A21A|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.A21A|ZFX_ENST00000338565.3_Silent_p.A21A	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTAAGGAGCTGATGGTACAC	0.323000													22	43					0	0	0.00229938	0	0
HCLS1	3059	broad.mit.edu	37	3	121354611	121354611	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121354611G>A	ENST00000314583.3	-	9	753	c.662C>T	c.(661-663)gCt>gTt	p.A221V	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.A184V	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	221					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTTCTTATAAGCTGTGGTCGG	0.542000													10	93					0	0	0.000978159	0	0
PLIN5	440503	broad.mit.edu	37	19	4523678	4523678	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4523678G>A	ENST00000381848.3	-	8	1334	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	418						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTGCCTCCCAGGCTCTCTGCT	0.716000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	150					0	0	0.000781405	0	0
FASN	2194	broad.mit.edu	37	17	80046119	80046119	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:80046119G>A	ENST00000306749.2	-	17	2876	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	886					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGTGGCGGGGAAGAGGACGC	0.672000													12	41					0	0	0.000308642	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527359	97527359	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97527359G>A	ENST00000305476.5	-	14	1761	c.1629C>T	c.(1627-1629)acC>acT	p.T543T		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	543	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AAGTGTCCGAGGTCATCACAT	0.562000													41	139					0	0	0.000781405	0	0
FLT4	2324	broad.mit.edu	37	5	180047284	180047284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:180047284C>T	ENST00000261937.6	-	17	2509	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	FLT4_ENST00000502649.1_Missense_Mutation_p.G811S|FLT4_ENST00000393347.3_Missense_Mutation_p.G811S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	811					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GACAGGTAGCCCGTCTTGATG	0.622000													18	133					0	0	0.000375601	0	0
TEKT3	64518	broad.mit.edu	37	17	15212126	15212126	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:15212126C>T	ENST00000395930.1	-	8	1297	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	TEKT3_ENST00000338696.2_Missense_Mutation_p.E371K	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	371					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGAAAATCTCCTGCAGGGTC	0.537000													47	56					0	0	0.000781405	0	0
FANK1	92565	broad.mit.edu	37	10	127697982	127697982	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:127697982G>A	ENST00000368695.1	+	11	1117	c.995G>A	c.(994-996)aGg>aAg	p.R332K	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.R338K	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	338						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAAAAGCAGAGGCCAAAGAAG	0.418000													8	40					0	0	0.000274275	0	0
PPFIA4	8497	broad.mit.edu	37	1	203033126	203033126	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203033126C>T	ENST00000367240.2	+	24	3509	c.2982C>T	c.(2980-2982)ttC>ttT	p.F994F	PPFIA4_ENST00000295706.4_Silent_p.F500F|PPFIA4_ENST00000447715.2_Silent_p.F993F|PPFIA4_ENST00000272198.6_Silent_p.F509F|PPFIA4_ENST00000414050.2_Silent_p.F722F|PPFIA4_ENST00000599966.1_Silent_p.F500F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	509					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGACAGCTTCCATCGGTGAG	0.637000													13	42					0	0	0.00185496	0	0
GRM2	2912	broad.mit.edu	37	3	51747141	51747141	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51747141G>T	ENST00000395052.3	+	3	1337	c.1103G>T	c.(1102-1104)cGg>cTg	p.R368L	GRM2_ENST00000442933.2_Missense_Mutation_p.R368L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	368					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CACTCTCTCCGGGCTGTGCCC	0.612000													5	33					0.000602214	0.00266649	0.000602214	1	0
FAM83C	128876	broad.mit.edu	37	20	33875448	33875448	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33875448G>A	ENST00000374408.3	-	4	1230	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	378										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCAGGGACGAGGACACCACAC	0.632000													7	33					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179535832	179535832	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179535832C>T	ENST00000589042.1	-	156	35517	c.35293G>A	c.(35293-35295)Gag>Aag	p.E11765K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10464K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11391K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9883	Glu-rich.|Pro-rich.						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)			GCTGGTGGCTCTTTTCGAGGA	0.363000													13	29					0	0	0.000422831	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658098	46658098	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:46658098C>T	ENST00000253255.5	-	1	1121	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	374	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAAAAGAACTGGAGTCCCT	0.532000													33	126					0	0	0.000692331	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594775	120594775	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:120594775G>A	ENST00000300648.6	-	27	3121	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1037					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGCCACGCGAGGCAGCAAC	0.602000													21	36					0	0	0.000375601	0	0
MEP1B	4225	broad.mit.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29797058C>T	ENST00000269202.6	+	13	1911	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	MEP1B_ENST00000581447.1_Nonsense_Mutation_p.R622*	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	622	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCACTGTTCGAGATGGCAA	0.398000													19	62					0	0	0.00229938	0	0
KCNH6	81033	broad.mit.edu	37	17	61613053	61613053	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:61613053G>A	ENST00000583023.1	+	6	1136	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	KCNH6_ENST00000581784.1_Silent_p.L375L|KCNH6_ENST00000314672.5_Silent_p.L375L|KCNH6_ENST00000580652.1_Silent_p.L375L|KCNH6_ENST00000456941.2_Silent_p.L375L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	375					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTGGGCTATTGAAGACAGCGC	0.602000													28	39					0	0	0.000491102	0	0
METTL4	64863	broad.mit.edu	37	18	2544257	2544257	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2544257G>A	ENST00000574538.1	-	8	1985	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S	METTL4_ENST00000319888.6_Intron	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	404					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTGTGGTCTGGAATGGGGAGC	0.348000													8	56					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179588149	179588149	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179588149C>T	ENST00000589042.1	-	74	21902	c.21678G>A	c.(21676-21678)gtG>gtA	p.V7226V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V5982V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6909V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6909	Ig-like 54.						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)			GCAAACCTTTCACAAAGAGAC	0.398000													10	12					0	0	0.00185496	0	0
COL6A6	131873	broad.mit.edu	37	3	130308001	130308001	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130308001G>A	ENST00000358511.6	+	11	4224	c.4193G>A	c.(4192-4194)gGa>gAa	p.G1398E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1398E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1398	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCACAATGGGAGATCCTGGA	0.428000													9	31					0	0	0.000673444	0	0
SULF1	23213	broad.mit.edu	37	8	70498635	70498635	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:70498635C>T	ENST00000260128.4	+	7	1173	c.456C>T	c.(454-456)atC>atT	p.I152I	SULF1_ENST00000402687.4_Silent_p.I152I|SULF1_ENST00000419716.3_Silent_p.I152I|SULF1_ENST00000458141.2_Silent_p.I152I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	152					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGCTACATCCCCCCTGGGT	0.348000													17	53					0	0	0.00152264	0	0
SNHG14	104472715	broad.mit.edu	37	15	25325359	25325359	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:25325359C>T	ENST00000549804.2	+	0	1377				SNORD116-14_ENST00000383894.1_RNA																							TCTATACCGTCATTCTCGTCG	0.458000													29	83					0	0	0.000491102	0	0
UBBP4	23666	broad.mit.edu	37	17	21731336	21731336	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:21731336C>T	ENST00000584755.1	+	2	1035	c.638C>T	c.(637-639)tCc>tTc	p.S213F	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ACTACAACATCCAGAAGGAGT	0.542000													23	45					0	0	0.00127121	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798862	57798862	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57798862C>T	ENST00000302622.3	+	1	461	c.438C>T	c.(436-438)atC>atT	p.I146I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCACCTGCATCCGTCTGGCAG	0.512000													17	37					0	0	0.000958276	0	0
NPAS3	64067	broad.mit.edu	37	14	34145419	34145419	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:34145419G>A	ENST00000346562.2	+	5	539	c.465G>A	c.(463-465)gtG>gtA	p.V155V	NPAS3_ENST00000357798.5_Silent_p.V174V|NPAS3_ENST00000356141.4_Silent_p.V187V|NPAS3_ENST00000548645.1_Silent_p.V157V|NPAS3_ENST00000551492.1_Silent_p.V192V|NPAS3_ENST00000341321.4_Silent_p.V187V|NPAS3_ENST00000547068.1_Silent_p.V83V|NPAS3_ENST00000551008.1_Silent_p.V85V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	187	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTCTAGGTGGAGCTGACAG	0.512000													10	50					0	0	0.000442599	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217601	150217601	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150217601G>A	ENST00000313543.4	+	2	696	c.539G>A	c.(538-540)aGt>aAt	p.S180N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	180							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAAGGAAAGTCAAGTGCAG	0.498000													23	45					0	0	0.00188189	0	0
GTDC1	79712	broad.mit.edu	37	2	144765040	144765040	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:144765040C>T	ENST00000409214.1	-	7	862	c.584G>A	c.(583-585)gGt>gAt	p.G195D	GTDC1_ENST00000392867.3_Missense_Mutation_p.G195D|GTDC1_ENST00000344850.4_Missense_Mutation_p.G195D|GTDC1_ENST00000463875.2_Missense_Mutation_p.G66D|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.G195D|GTDC1_ENST00000392869.1_Missense_Mutation_p.G195D|GTDC1_ENST00000542155.1_Missense_Mutation_p.G195D	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	195					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAGAACCGCACCGCCATTTCC	0.408000													12	51					0	0	0.000219431	0	0
ATHL1	80162	broad.mit.edu	37	11	293665	293665	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:293665C>T	ENST00000409548.2	+	10	1667	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.R545C	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	518					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCTGATGTTCGCAGGAAAAA	0.612000													16	110					0	0	0.00074312	0	0
KLHL13	90293	broad.mit.edu	37	X	117033149	117033149	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:117033149G>A	ENST00000371876.1	-	6	3958	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	KLHL13_ENST00000469946.1_Missense_Mutation_p.L513F|KLHL13_ENST00000539496.1_Missense_Mutation_p.L567F|KLHL13_ENST00000371878.1_Missense_Mutation_p.L513F|KLHL13_ENST00000545703.1_Missense_Mutation_p.L522F|KLHL13_ENST00000540167.1_Missense_Mutation_p.L548F|KLHL13_ENST00000541812.1_Missense_Mutation_p.L548F|KLHL13_ENST00000262820.3_Missense_Mutation_p.L564F|KLHL13_ENST00000371882.1_Missense_Mutation_p.L513F			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	564					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CACTGGTCAAGGATAGGTGAA	0.453000													14	25					0	0	0.000219431	0	0
MKS1	54903	broad.mit.edu	37	17	56285884	56285884	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:56285884G>A	ENST00000393119.2	-	12	1159	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	MKS1_ENST00000546108.1_Missense_Mutation_p.S159F|MKS1_ENST00000313863.6_Missense_Mutation_p.S362F|MKS1_ENST00000337050.7_Missense_Mutation_p.S362F|MKS1_ENST00000537529.2_Missense_Mutation_p.S352F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	362	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATTGCCAGGGACTTGGTGGT	0.527000													30	45					0	0	0.000814825	0	0
XPR1	9213	broad.mit.edu	37	1	180849408	180849408	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180849408C>T	ENST00000367590.4	+	14	2203	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	XPR1_ENST00000367589.3_Silent_p.L604L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	669						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAGCATATCCCTGCGCCGGCC	0.488000													24	46					0	0	0.00127121	0	0
SEC16A	9919	broad.mit.edu	37	9	139371455	139371455	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:139371455G>A	ENST00000313050.7	-	1	686	c.613C>T	c.(613-615)Cct>Tct	p.P205S	SEC16A_ENST00000431893.2_Missense_Mutation_p.P27S|SEC16A_ENST00000371706.3_Missense_Mutation_p.P27S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P27S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	27					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGGCTGAGGGAGGGAAGGG	0.657000													23	33					0	0	0.00229938	0	0
CEP135	9662	broad.mit.edu	37	4	56883940	56883940	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:56883940C>T	ENST00000257287.4	+	22	3053	c.2929C>T	c.(2929-2931)Ctt>Ttt	p.L977F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	977					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTTGTCATCTCTTAGAGAACT	0.358000													17	35					0	0	0.00074312	0	0
DNAH9	1770	broad.mit.edu	37	17	11572995	11572995	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11572995G>A	ENST00000262442.3	+	17	3305	c.3237G>A	c.(3235-3237)aaG>aaA	p.K1079K	DNAH9_ENST00000454412.2_Silent_p.K1079K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1079	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCCATCAAGGTGTTTGACG	0.463000													40	91					0	0	0.000781405	0	0
CR1L	1379	broad.mit.edu	37	1	207890927	207890927	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207890927G>A	ENST00000508064.2	+	11	1593	c.1533G>A	c.(1531-1533)ggG>ggA	p.G511G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	511	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGACAGAGGGATGACCTTCA	0.537000													23	70					0	0	0.00229938	0	0
TGM1	7051	broad.mit.edu	37	14	24728335	24728335	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24728335C>T	ENST00000206765.6	-	7	1228	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	369					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ACGGAATATCCCGTGCGTAGG	0.612000													5	18					0	0	0.00116845	0	0
C22orf24	25775	broad.mit.edu	37	22	32330163	32330163	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32330163C>T	ENST00000248984.3	-	3	590	c.424G>A	c.(424-426)Gag>Aag	p.E142K	C22orf24_ENST00000543051.1_Missense_Mutation_p.E209K|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	142						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						AAGCTTTCCTCTGATCTTCCT	0.512000													4	16					0	0	0.00024832	0	0
SAMD8	142891	broad.mit.edu	37	10	76910467	76910467	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:76910467G>T	ENST00000542569.1	+	2	284	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	SAMD8_ENST00000372687.3_Missense_Mutation_p.V61F|SAMD8_ENST00000372690.3_Missense_Mutation_p.V124F	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	61	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGAAATCAAAGTCTTAGGGGA	0.388000													16	69					4.63292e-17	2.08062e-16	0.00121646	1	0
RANBP2	5903	broad.mit.edu	37	2	109379696	109379696	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:109379696C>T	ENST00000283195.6	+	20	2827	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	901					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTTAGGGCCCAGTCTATGG	0.393000													11	25					0	0	0.00136819	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2820047G>A	ENST00000602557.1	-	62	10127	c.9572C>T	c.(9571-9573)tCc>tTc	p.S3191F	CSMD1_ENST00000542608.1_Missense_Mutation_p.S3013F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3191F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S3014F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3014F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3190F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3191	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTGGAGGATCCCACGAG	0.502000													6	45					0	0	0.00198382	0	0
THSD7B	80731	broad.mit.edu	37	2	138169266	138169266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:138169266C>T	ENST00000409968.1	+	14	2961	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F	THSD7B_ENST00000413152.2_Missense_Mutation_p.S897F|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S928F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATTTATATCCCAACCTTAT	0.463000													45	103					0	0	0.00195071	0	0
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:169847945G>A	ENST00000367772.4	-	3	378	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61C|SCYL3_ENST00000367771.5_Missense_Mutation_p.R61C	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408000													16	109					0	0	0.000958276	0	0
FCAR	2204	broad.mit.edu	37	19	55399406	55399406	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:55399406C>T	ENST00000355524.3	+	4	404	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.R120W|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.R132W|FCAR_ENST00000469767.1_Missense_Mutation_p.R132W|FCAR_ENST00000391723.3_Missense_Mutation_p.R120W|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.R120W|FCAR_ENST00000353758.4_Missense_Mutation_p.R23W	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	132					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTCTGCAGATCGGGGTCTGGT	0.438000													38	52					0	0	0.000781405	0	0
KIAA1109	84162	broad.mit.edu	37	4	123269732	123269732	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:123269732A>G	ENST00000264501.4	+	77	13513	c.13140A>G	c.(13138-13140)tcA>tcG	p.S4380S	KIAA1109_ENST00000388738.3_Silent_p.S4380S			Q2LD37	K1109_HUMAN	KIAA1109	4380					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTCACTTTCAAAAACATCAA	0.318000													6	16					0	0	0.000157383	0	0
MCTP2	55784	broad.mit.edu	37	15	94899414	94899414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:94899414C>T	ENST00000357742.4	+	8	1054	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*	MCTP2_ENST00000451018.3_Nonsense_Mutation_p.Q352*|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.Q352*|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	352	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAAAAAGAACCAACTCTGGAA	0.398000													16	73					0	0	0.000958276	0	0
EIF3L	51386	broad.mit.edu	37	22	38266249	38266249	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:38266249C>T	ENST00000412331.2	+	8	1228	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	EIF3L_ENST00000406934.1_Missense_Mutation_p.R118C|EIF3L_ENST00000381683.6_Missense_Mutation_p.R168C|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	216						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGACTTTCTTCGTTCCAATCC	0.433000													25	59					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179534397	179534397	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179534397C>T	ENST00000589042.1	-	158	35616	c.35392G>A	c.(35392-35394)Gaa>Aaa	p.E11798K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9910	Glu-rich.|Pro-rich.						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)			TTGGGTACTTCGGGTGCTTTA	0.378000													58	154					0	0	0.000781405	0	0
PAMR1	25891	broad.mit.edu	37	11	35457602	35457602	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:35457602A>G	ENST00000378880.2	-	9	1627	c.1182T>C	c.(1180-1182)ctT>ctC	p.L394L	PAMR1_ENST00000378878.3_Silent_p.L283L|PAMR1_ENST00000532848.1_Silent_p.L354L|PAMR1_ENST00000278360.3_Silent_p.L411L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	394	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCCAAAGGGAAGGGCTGGCT	0.567000													19	119					0	0	0.00229938	0	0
MICALCL	84953	broad.mit.edu	37	11	12315422	12315422	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:12315422C>T	ENST00000256186.2	+	3	735	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	148					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCTATCTCCCTTGGCTGGAG	0.582000													4	26					0	0	0.00024832	0	0
TTLL8	164714	broad.mit.edu	37	22	50470286	50470286	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50470286G>A	ENST00000266182.6	-	11	1535	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	TTLL8_ENST00000440475.1_Silent_p.F492F					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCCCAAGGACGAAGTCAGCCC	0.627000													13	43					0	0	0.000308642	0	0
ALPK1	80216	broad.mit.edu	37	4	113347634	113347634	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:113347634G>A	ENST00000458497.1	+	8	913	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ALPK1_ENST00000177648.9_Missense_Mutation_p.E212K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E134K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	212							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GATGTGGTACGAAGCAGCAGA	0.448000													20	78					0	0	0.00047179	0	0
LAMA1	284217	broad.mit.edu	37	18	6986233	6986233	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:6986233A>C	ENST00000389658.3	-	37	5375	c.5282T>G	c.(5281-5283)cTa>cGa	p.L1761R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1761	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCGCCTTTAGTTCATTGTT	0.468000													27	139					0	0	0.0024448	0	0
BDP1	55814	broad.mit.edu	37	5	70845412	70845412	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:70845412C>T	ENST00000358731.4	+	34	7237	c.6974C>T	c.(6973-6975)aCc>aTc	p.T2325I	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2325					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAGTGAATACCGAAGAAAGG	0.413000													12	79					0	0	0.00185496	0	0
TC2N	123036	broad.mit.edu	37	14	92251687	92251687	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92251687C>T	ENST00000435962.2	-	11	1504	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	TC2N_ENST00000360594.5_Missense_Mutation_p.G394E|TC2N_ENST00000340892.5_Missense_Mutation_p.G394E|TC2N_ENST00000556018.1_Missense_Mutation_p.G330E	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	394	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GCTAAACATTCCCACCTTCAC	0.338000													38	136					0	0	0.000953801	0	0
PKP2	5318	broad.mit.edu	37	12	32996197	32996197	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:32996197G>A	ENST00000070846.6	-	6	1453	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	477					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ttacaggcgtgagccaccgcg	0.557000													17	29					0	0	0.000422831	0	0
RNFT2	84900	broad.mit.edu	37	12	117217114	117217114	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:117217114C>T	ENST00000257575.4	+	7	1076	c.843C>T	c.(841-843)atC>atT	p.I281I	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I281I|RNFT2_ENST00000392549.2_Silent_p.I281I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	281						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGTGCCTCATCGTGGCCCTGC	0.552000													15	25					0	0	0.000308642	0	0
DNAH10	196385	broad.mit.edu	37	12	124345695	124345695	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:124345695C>T	ENST00000409039.3	+	38	6557	c.6532C>T	c.(6532-6534)Cca>Tca	p.P2178S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2178	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATCAACAAGCCAACAGACAA	0.463000													10	21					0	0	0.000673444	0	0
CD1B	910	broad.mit.edu	37	1	158298751	158298751	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158298751G>A	ENST00000368168.3	-	5	1047	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	314					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGCAAAAGGAGCAAGGAAGGC	0.423000													25	65					0	0	0.000878237	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	C	T	rs140203672	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123624553C>T	ENST00000327930.2	-	1	700	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000													19	31					0	0	0.00121646	0	0
TLR6	10333	broad.mit.edu	37	4	38829376	38829376	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:38829376C>T	ENST00000436693.2	-	2	1838	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	TLR6_ENST00000381950.1_Silent_p.K573K	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	573	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGAAAGTCCTTTAGTGGGC	0.453000													14	63					0	0	0.000308642	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:20048070G>A	ENST00000400230.2	-	6	420	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R126*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R89*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R89*|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000													11	53					0	0	0.000673444	0	0
LYNX1	66004	broad.mit.edu	37	8	143846063	143846063	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143846063G>A	ENST00000335822.5	-	5	983	c.356C>T	c.(355-357)tCc>tTc	p.S119F	LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000317543.7_Missense_Mutation_p.S85F|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	85						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAAGCGATGGATACGTAGGG	0.662000													11	87					0	0	0.000219431	0	0
TENM3	55714	broad.mit.edu	37	4	183522226	183522226	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:183522226G>A	ENST00000511685.1	+	4	784	c.661G>A	c.(661-663)Gct>Act	p.A221T	TENM3_ENST00000406950.2_Missense_Mutation_p.A221T					teneurin transmembrane protein 3																		CCCGCCGGCTGCTTTGCCCGC	0.552000													27	120					0	0	0.000878237	0	0
NFX1	4799	broad.mit.edu	37	9	33294735	33294735	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:33294735C>A	ENST00000379540.3	+	2	405	c.343C>A	c.(343-345)Cat>Aat	p.H115N	NFX1_ENST00000379521.4_Missense_Mutation_p.H115N|NFX1_ENST00000318524.6_Missense_Mutation_p.H115N	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	115					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGAGAAGCACCATATCAGAGT	0.488000													8	130					0.000157383	0.000698722	0.000157383	1	0
SPNS3	201305	broad.mit.edu	37	17	4348457	4348457	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4348457C>T	ENST00000355530.2	+	3	676	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	132					lipid transport|transmembrane transport	integral to membrane		p.S132S(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTTCATCTCCCCCCGGGTAC	0.622000													6	43					0	0	0.000157383	0	0
VWA5A	4013	broad.mit.edu	37	11	124007856	124007856	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124007856C>T	ENST00000456829.2	+	15	2011	c.1760C>T	c.(1759-1761)gCt>gTt	p.A587V	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A587V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	587										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCCTTCACAGCTTTCATTGCT	0.512000													32	55					0	0	0.000491102	0	0
SYT16	83851	broad.mit.edu	37	14	62567375	62567375	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:62567375G>A	ENST00000430451.2	+	6	2085	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	630										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGATGAAGGAAACCAAAGG	0.502000													5	26					0	0	0.000602214	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212908	26212908	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:26212908G>A	ENST00000379034.1	+	2	1094	c.945G>A	c.(943-945)ggG>ggA	p.G315G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	315	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTCTGTTGGGGATATATGATG	0.507000													29	50					0	0	0.000953801	0	0
FAM114A2	10827	broad.mit.edu	37	5	153407730	153407730	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:153407730G>A	ENST00000351797.4	-	6	685	c.609C>T	c.(607-609)aaC>aaT	p.N203N	FAM114A2_ENST00000520313.1_Silent_p.N133N|FAM114A2_ENST00000522858.1_Silent_p.N203N|FAM114A2_ENST00000520667.1_Silent_p.N203N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	203							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TAGCATTTCGGTTCATCAGAC	0.388000													6	51					0	0	0.000157383	0	0
FBN3	84467	broad.mit.edu	37	19	8193953	8193953	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8193953G>A	ENST00000600128.1	-	18	2669	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	FBN3_ENST00000601739.1_Missense_Mutation_p.P752L|FBN3_ENST00000270509.2_Missense_Mutation_p.P752L			Q75N90	FBN3_HUMAN	fibrillin 3	752	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCGGGGGGGCAGGAGCA	0.607000													22	77					0	0	0.00229938	0	0
FAT2	2196	broad.mit.edu	37	5	150906861	150906861	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:150906861G>A	ENST00000261800.5	-	16	10254	c.10242C>T	c.(10240-10242)atC>atT	p.I3414I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3414	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCACTTGGATAGCGATGT	0.532000													16	89					0	0	0.000566183	0	0
ATP1A2	477	broad.mit.edu	37	1	160105705	160105705	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160105705C>T	ENST00000361216.3	+	17	2450	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.F787F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	787					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACCCCCTTCCTGCTGTTCA	0.557000													17	44					0	0	0.00074312	0	0
PDE4A	5141	broad.mit.edu	37	19	10528343	10528343	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10528343G>A	ENST00000380702.2	+	2	56	c.56G>A	c.(55-57)aGg>aAg	p.R19K	PDE4A_ENST00000592685.1_Missense_Mutation_p.R19K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	0					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGAGGTCGAGGGAGACCCCC	0.682000											OREG0025236	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0.000442599	0	0
PSG7	5676	broad.mit.edu	37	19	43430668	43430668	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43430668C>T	ENST00000446844.3	-	0	999				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.498000													47	45					0	0	0.000781405	0	0
SIDT1	54847	broad.mit.edu	37	3	113300238	113300238	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:113300238G>A	ENST00000264852.4	+	6	1420	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	SIDT1_ENST00000393830.3_Missense_Mutation_p.E232K	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	232						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCACAATGTGGAATTTAATGG	0.453000													22	58					0	0	0.00127121	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026734	7026734	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:7026734C>T	ENST00000409757.4	+	13	1885	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	TBC1D14_ENST00000451522.2_Silent_p.I307I|TBC1D14_ENST00000410031.1_Silent_p.I359I|TBC1D14_ENST00000448507.1_Silent_p.I587I|TBC1D14_ENST00000446947.2_Silent_p.I234I	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	587	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCCCTAGGATCTTTACCTTAT	0.463000													43	150					0	0	0.000781405	0	0
ZNF223	7766	broad.mit.edu	37	19	44570909	44570909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:44570909C>T	ENST00000591793.1	+	7	1341	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	ZNF223_ENST00000434772.3_Missense_Mutation_p.H310Y			Q9UK11	ZN223_HUMAN	zinc finger protein 223	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTGTGTGGTCCACACAGGAAA	0.448000													22	47					0	0	0.00229938	0	0
IQCF3	401067	broad.mit.edu	37	3	51864652	51864652	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51864652C>T	ENST00000444293.1	+	3	230	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Silent_p.I100I|IQCF3_ENST00000456080.1_Silent_p.I100I|IQCF3_ENST00000440739.2_Silent_p.I100I|IQCF3_ENST00000437810.2_Silent_p.I100I			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTCCTGCATCCGCATGTGGC	0.597000													16	69					0	0	0.00121646	0	0
PHYH	5264	broad.mit.edu	37	10	13333889	13333889	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:13333889G>A	ENST00000396920.3	-	5	785	c.381C>T	c.(379-381)ttC>ttT	p.F127F	PHYH_ENST00000396913.2_Silent_p.F46F|PHYH_ENST00000263038.4_Silent_p.F146F			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	146					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TAGGTCCAGTGAAGCACTCCA	0.333000													15	100					0	0	0.000422831	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458461	38458461	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38458461C>T	ENST00000322350.5	+	20	3082	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	EGFLAM_ENST00000336740.6_Silent_p.F678F|EGFLAM_ENST00000514476.1_Silent_p.F55F|EGFLAM_ENST00000354891.3_Silent_p.F920F|EGFLAM_ENST00000506135.1_Silent_p.F55F|EGFLAM_ENST00000397202.2_Silent_p.F278F|EGFLAM_ENST00000397210.3_Silent_p.F55F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	920	Laminin G-like 3.					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)					ATGGCTCCTTCAACGATGGTC	0.532000													11	57					0	0	0.00185496	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128848675	128848675	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128848675C>T	ENST00000310343.9	-	18	2069	c.2070G>A	c.(2068-2070)atG>atA	p.M690I	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M341I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M341I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M616I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	690					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTTTCAGAGCCATGGCTTTCA	0.473000													13	22					0	0	0.000422831	0	0
VCAN	1462	broad.mit.edu	37	5	82876171	82876171	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:82876171C>T	ENST00000265077.3	+	15	10674	c.10109C>T	c.(10108-10110)tCc>tTc	p.S3370F	VCAN_ENST00000343200.5_Missense_Mutation_p.S2383F|VCAN_ENST00000512590.2_Missense_Mutation_p.S1568F|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S629F|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.S1616F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3370					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAAAAATTCCTCATCAGCA	0.388000													6	53					0	0	0.00198382	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849586	98849586	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:98849586G>A	ENST00000554295.1	-	0	1337					NR_033801.1																						CTCCAATGATGAAAACAGGGC	0.502000													14	49					0	0	0.000219431	0	0
SCN11A	11280	broad.mit.edu	37	3	38913713	38913713	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38913713G>A	ENST00000302328.3	-	20	3664	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1156					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACAGCGCACGAAGAGGCCTC	0.463000													30	110					0	0	0.00111076	0	0
COL11A1	1301	broad.mit.edu	37	1	103381206	103381206	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:103381206G>A	ENST00000358392.2	-	50	4150	c.3833C>T	c.(3832-3834)cCt>cTt	p.P1278L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1150L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1227L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1266L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1266	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTTCCCCAGGAGGCCCTGG	0.363000													56	77					0	0	0.000781405	0	0
MIB2	142678	broad.mit.edu	37	1	1563427	1563427	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1563427C>T	ENST00000357210.4	+	14	2099	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	MIB2_ENST00000520777.1_Missense_Mutation_p.S681F|MIB2_ENST00000378710.3_Missense_Mutation_p.S592F|MIB2_ENST00000504599.1_Missense_Mutation_p.S584F|MIB2_ENST00000378708.1_Missense_Mutation_p.S534F|MIB2_ENST00000378712.1_Missense_Mutation_p.S505F|MIB2_ENST00000518681.1_Missense_Mutation_p.S620F|MIB2_ENST00000360522.4_Missense_Mutation_p.S593F|MIB2_ENST00000355826.5_Missense_Mutation_p.S671F|MIB2_ENST00000505820.2_Missense_Mutation_p.S685F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	628					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCCTGCACTCCGCCATCTCG	0.657000													18	36					0	0	0.000566183	0	0
C20orf194	25943	broad.mit.edu	37	20	3277588	3277588	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3277588G>A	ENST00000252032.9	-	23	2005	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	C20orf194_ENST00000498079.1_5'UTR|C20orf194_ENST00000453730.2_Silent_p.S384S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	646										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTTTCCAGAGGGAGAAGACCT	0.398000													55	176					0	0	0.000781405	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567391	45567391	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:45567391C>T	ENST00000588982.1	-	3	589	c.88G>A	c.(88-90)Gat>Aat	p.D30N	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D30N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D30N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D30N|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D30N			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	30						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCAGGCCATCGTGCCGTTGC	0.567000													7	37					0	0	0.000157383	0	0
TRPM7	54822	broad.mit.edu	37	15	50902010	50902010	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50902010A>T	ENST00000313478.7	-	18	2710	c.2429T>A	c.(2428-2430)aTc>aAc	p.I810N	TRPM7_ENST00000560955.1_Missense_Mutation_p.I810N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	810					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TACCATGGGGATCTCTTCTGT	0.308000													8	78					0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82580373	82580373	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82580373C>T	ENST00000423517.2	-	6	9868	c.9531G>A	c.(9529-9531)acG>acA	p.T3177T	PCLO_ENST00000333891.8_Silent_p.T3177T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3108	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3177T(2)|p.T3108T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAGTCTATCGTCTCAGCAG	0.413000													9	19					0	0	0.000442599	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076276	11076276	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11076276C>T	ENST00000287766.4	+	15	2008	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	SLC6A1_ENST00000536032.1_Silent_p.F351F	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	529					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACTATGTTTTCCCCAAGTGGG	0.592000													18	55					0	0	0.00152264	0	0
OR11H6	122748	broad.mit.edu	37	14	20692045	20692045	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20692045G>T	ENST00000315519.2	+	1	255	c.177G>T	c.(175-177)ggG>ggT	p.G59G		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CACTGCTAGGGAATGGAGCTA	0.478000													13	61					9.31168e-06	4.15461e-05	0.00185496	1	0
KCNE3	10008	broad.mit.edu	37	11	74168303	74168303	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:74168303C>T	ENST00000310128.4	-	3	725	c.306G>A	c.(304-306)atG>atA	p.M102I	KCNE3_ENST00000525550.1_Missense_Mutation_p.M102I|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	102						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CGTGTTAGATCATAGACACAC	0.552000													4	14					0	0	0.00024832	0	0
ZNF728	388523	broad.mit.edu	37	19	23159812	23159812	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:23159812C>T	ENST00000594710.1	-	4	472	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ACTGTAAATTCTCATGTCCAC	0.353000													8	27					0	0	0.000157383	0	0
CTNND2	1501	broad.mit.edu	37	5	11082926	11082926	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:11082926T>A	ENST00000304623.8	-	16	2859	c.2670A>T	c.(2668-2670)aaA>aaT	p.K890N	CTNND2_ENST00000503622.1_Missense_Mutation_p.K553N|CTNND2_ENST00000458100.2_Missense_Mutation_p.K457N|CTNND2_ENST00000511377.1_Missense_Mutation_p.K799N|CTNND2_ENST00000359640.2_Missense_Mutation_p.K832N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	890					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCCTTTCTCTTTTCGGACAG	0.542000													14	35					0	0	0.000308642	0	0
DSG3	1830	broad.mit.edu	37	18	29038468	29038468	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29038468G>A	ENST00000257189.4	+	4	360	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	93	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTGGGAATCGATCAGCCGCC	0.443000													6	48					0	0	0.00116845	0	0
TEX37	200523	broad.mit.edu	37	2	88828788	88828788	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:88828788C>T	ENST00000303254.3	+	4	481	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_152670.2	NP_689883.1			testis expressed 37																		ATCCAGCTTCCCACGATCTGC	0.602000													10	78					0	0	0.000978159	0	0
SDK1	221935	broad.mit.edu	37	7	4188922	4188922	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:4188922G>A	ENST00000404826.2	+	30	4591	c.4452G>A	c.(4450-4452)ctG>ctA	p.L1484L	SDK1_ENST00000389531.3_Silent_p.L1484L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1484	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGAGCTCCTGGTGCCCCAGG	0.667000													7	26					0	0	0.000274275	0	0
TACC2	10579	broad.mit.edu	37	10	123843518	123843518	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:123843518G>T	ENST00000369005.1	+	4	1843	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.L501F|TACC2_ENST00000515603.1_Missense_Mutation_p.L501F|TACC2_ENST00000515273.1_Missense_Mutation_p.L501F|TACC2_ENST00000334433.3_Missense_Mutation_p.L501F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	501	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGCACTTGAACACGGAGC	0.602000													17	63					2.48551e-13	1.11451e-12	0.000566183	1	0
CDKN1C	1028	broad.mit.edu	37	11	2905985	2905985	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2905985C>T	ENST00000414822.3	-	1	1126	c.735G>A	c.(733-735)ggG>ggA	p.G245G	CDKN1C_ENST00000313407.6_Silent_p.G234G|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000440480.2_Silent_p.G234G|CDKN1C_ENST00000430149.2_Silent_p.G245G	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	245					cell cycle arrest|G1 phase of mitotic cell cycle|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCGAAATCCCCGAGTGCA	0.761000													54	312					0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108008871	108008871	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:108008871C>T	ENST00000280758.5	+	7	2461	c.1933C>T	c.(1933-1935)Cac>Tac	p.H645Y	BTBD11_ENST00000357167.4_Missense_Mutation_p.H182Y|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.H645Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.H645Y	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	645						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCATCCGTCCACCCCGAGAC	0.413000													31	43					0	0	0.000692331	0	0
PYGO2	90780	broad.mit.edu	37	1	154932030	154932030	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:154932030G>A	ENST00000368457.2	-	3	617	c.446C>T	c.(445-447)cCc>cTc	p.P149L	PYGO2_ENST00000368456.1_Missense_Mutation_p.P112L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	149	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGACCCTGGGGGGGCATGTT	0.627000													24	82					0	0	0.000720815	0	0
WNT3	7473	broad.mit.edu	37	17	44845715	44845715	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:44845715G>A	ENST00000225512.5	-	4	1201	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	347					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGTAGATGCGAATACACTCC	0.622000													13	35					0	0	0.000219431	0	0
ATRN	8455	broad.mit.edu	37	20	3565495	3565495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3565495G>A	ENST00000262919.5	+	18	3220	c.3152G>A	c.(3151-3153)aGc>aAc	p.S1051N	ATRN_ENST00000446916.2_Missense_Mutation_p.S1051N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1051	PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTAGAGGACAGCAGATACAAC	0.433000													22	65					0	0	0.000586117	0	0
MARC1	64757	broad.mit.edu	37	1	220970134	220970134	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:220970134G>A	ENST00000366910.5	+	3	785	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	200	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GACTTGTTCCGACCCAAGGAC	0.577000													6	7					0	0	0.00116845	0	0
ITGAX	3687	broad.mit.edu	37	16	31382509	31382509	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31382509G>A	ENST00000268296.4	+	15	1936	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	ITGAX_ENST00000562522.1_Silent_p.G605G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	605					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGGCTGTGGGGGCCCGGGGCC	0.662000													24	28					0	0	0.000586117	0	0
PRKG2	5593	broad.mit.edu	37	4	82064053	82064053	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:82064053C>T	ENST00000395578.1	-	11	1418	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	PRKG2_ENST00000418486.2_Missense_Mutation_p.M434I|PRKG2_ENST00000545647.1_Missense_Mutation_p.M14I|PRKG2_ENST00000264399.1_Missense_Mutation_p.M434I|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	434					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAGCTGAATCATTTCCAGAG	0.468000													18	72					0	0	0.000566183	0	0
ANK3	288	broad.mit.edu	37	10	61830130	61830130	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:61830130G>A	ENST00000280772.1	-	37	10700	c.10509C>T	c.(10507-10509)ttC>ttT	p.F3503F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3503					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTCCAGTGTGAAGAACTGGG	0.433000													6	47					0	0	0.00198382	0	0
KCNB1	3745	broad.mit.edu	37	20	47990589	47990589	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990589G>A	ENST00000371741.4	-	2	1674	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	503					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTTCAAAGGACTTACTTGA	0.428000													66	157					0	0	0.000781405	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:99102183G>A	ENST00000318528.3	+	2	1297	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	313	Glu-rich.							p.R313Q(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000													19	45					0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179612026	179612026	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179612026T>A	ENST00000360870.5	-	46	15323	c.15101A>T	c.(15100-15102)gAa>gTa	p.E5034V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1138							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)			TTCAGCAACTTCCCCTAAAGG	0.433000													9	14					0	0	0.000978159	0	0
HRNR	388697	broad.mit.edu	37	1	152188457	152188457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152188457C>T	ENST00000368801.2	-	3	5723	c.5648G>A	c.(5647-5649)gGt>gAt	p.G1883D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1883					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGTAACCAGAGGACTG	0.552000													74	1842					0	0	0.00178596	0	0
TBC1D12	23232	broad.mit.edu	37	10	96291080	96291080	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96291080G>A	ENST00000225235.4	+	12	2232	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	708						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCGATTATATGAAGATATTCT	0.393000													12	74					0	0	0.000978159	0	0
DARC	2532	broad.mit.edu	37	1	159176211	159176211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159176211C>T	ENST00000537147.1	+	3	1825	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	DARC_ENST00000368121.2_Missense_Mutation_p.H330Y|DARC_ENST00000368122.2_Missense_Mutation_p.H328Y			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	328					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATGGTCTTCTCATCTGGACAC	0.537000													109	260					0	0	0.000781405	0	0
NRK	203447	broad.mit.edu	37	X	105190359	105190359	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:105190359C>T	ENST00000428173.2	+	26	4562	c.4259C>T	c.(4258-4260)tCt>tTt	p.S1420F	NRK_ENST00000243300.9_Missense_Mutation_p.S1419F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1419	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTATTGGTTCTGAAAAAAGA	0.393000										HNSCC(51;0.14)			9	21					0	0	0.000274275	0	0
LRP2	4036	broad.mit.edu	37	2	170037990	170037990	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170037990G>A	ENST00000263816.3	-	52	10422	c.10137C>T	c.(10135-10137)ctC>ctT	p.L3379L	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3379					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCCCAGTAGAGTAGATCAT	0.418000													18	47					0	0	0.00188189	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433934	37433934	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:37433934C>T	ENST00000374660.1	+	8	1336	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P413S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P413S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	469						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAGAGGTTCCCATCAGAATC	0.249000													29	73					0	0	0.000814825	0	0
COLGALT1	79709	broad.mit.edu	37	19	17690300	17690300	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17690300C>T	ENST00000252599.4	+	10	1396	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		GGTGGTGGACCGGGGGCTGCA	0.562000													42	99					0	0	0.000589545	0	0
C3	718	broad.mit.edu	37	19	6684620	6684620	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6684620G>A	ENST00000245907.6	-	32	4163	c.4071C>T	c.(4069-4071)acC>acT	p.T1357T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1357					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTTATTACAGGTGAGTTGAT	0.483000													37	162					0	0	0.000781405	0	0
COL3A1	1281	broad.mit.edu	37	2	189856222	189856222	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189856222G>A	ENST00000304636.3	+	12	1032	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G288S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	288	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTGAAAATGGTCTTCCAGG	0.279000													11	21					0	0	0.000308642	0	0
TRIML2	205860	broad.mit.edu	37	4	189012597	189012597	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189012597C>T	ENST00000512729.1	-	7	1468	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	TRIML2_ENST00000326754.3_Missense_Mutation_p.G390E	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	365	B30.2/SPRY.						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)		ACTTGTGTCTCCATTTGGGAT	0.463000													21	74					0	0	0.000720815	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513894	143513894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:143513894G>A	ENST00000316549.6	-	4	690	c.482C>T	c.(481-483)tCt>tTt	p.S161F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	161					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGTTAAAATAGATCCTAAGTT	0.373000													8	50					0	0	0.000442599	0	0
NEB	4703	broad.mit.edu	37	2	152529026	152529026	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152529026C>T	ENST00000397345.3	-	37	4358	c.4156G>A	c.(4156-4158)Gac>Aac	p.D1386N	NEB_ENST00000172853.10_Missense_Mutation_p.D1386N|NEB_ENST00000409198.1_Missense_Mutation_p.D1386N|NEB_ENST00000603639.1_Missense_Mutation_p.D1386N|NEB_ENST00000427231.2_Missense_Mutation_p.D1386N|NEB_ENST00000604864.1_Missense_Mutation_p.D1386N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1386					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAACCATGTCCCCAGGGGTA	0.473000													14	55					0	0	0.00074312	0	0
MPG	4350	broad.mit.edu	37	16	135716	135716	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:135716C>T	ENST00000219431.4	+	5	1068	c.837C>T	c.(835-837)gtC>gtT	p.V279V	MPG_ENST00000397817.1_Silent_p.V262V	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	279					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCTTCTATGTCCGGGGCAGCC	0.627000								Base excision repair (BER), DNA glycosylases					15	23					0	0	0.00074312	0	0
COL8A1	1295	broad.mit.edu	37	3	99513116	99513116	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:99513116G>A	ENST00000261037.3	+	5	751	c.371G>A	c.(370-372)gGa>gAa	p.G124E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G124E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	124	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTCCCCGTGGAGAGCCTGGC	0.532000													10	24					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9076674	9076674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9076674G>A	ENST00000397910.4	-	3	10975	c.10772C>T	c.(10771-10773)tCc>tTc	p.S3591F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3591Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGTCCAGGAATCTGATGC	0.483000													32	73					0	0	0.000491102	0	0
EXPH5	23086	broad.mit.edu	37	11	108383740	108383740	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108383740C>T	ENST00000265843.4	-	6	2604	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	EXPH5_ENST00000525344.1_Missense_Mutation_p.E825K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E644K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E756K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	832					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAGTTAATTCCTGGTGACAA	0.388000													40	72					0	0	0.00195071	0	0
NF1	4763	broad.mit.edu	37	17	29550551	29550551	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:29550551T>A	ENST00000358273.4	+	16	2194	c.1811T>A	c.(1810-1812)tTg>tAg	p.L604*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L604*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	604			L -> V (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGGGAAATATTGATCTGCAGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	29					0	0	0.000566183	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578690	85578690	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:85578690G>A	ENST00000590707.1	+	0	413					NR_003719.2																						CAGCAGTTCCGAGACCTCAAA	0.468000													6	13					0	0	0.00116845	0	0
MGAM	8972	broad.mit.edu	37	7	141752693	141752693	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141752693C>T	ENST00000475668.2	+	26	3122	c.3068C>T	c.(3067-3069)tCt>tTt	p.S1023F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1023F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1023					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTTAAAGTCTTCCGTTTAT	0.463000													33	62					0	0	0.00058488	0	0
OR6C2	341416	broad.mit.edu	37	12	55846846	55846846	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:55846846G>A	ENST00000322678.1	+	1	849	c.849G>A	c.(847-849)ttG>ttA	p.L283L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CACCCTTGTTGAACCCCTTCA	0.408000													12	25					0	0	0.000978159	0	0
TCERG1	10915	broad.mit.edu	37	5	145843255	145843255	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145843255C>T	ENST00000296702.5	+	5	1072	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P345L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	345	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGTTCCTCATTCAGTA	0.532000													16	101					0	0	0.00152264	0	0
CCDC18	343099	broad.mit.edu	37	1	93720073	93720073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:93720073C>T	ENST00000343253.7	+	24	3743	c.3241C>T	c.(3241-3243)Cga>Tga	p.R1081*	CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.R1200*|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.R1082*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1081										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGAACAGCTTCGAGAAAAAGA	0.284000													45	55					0	0	0.000509022	0	0
SLAIN2	57606	broad.mit.edu	37	4	48422161	48422161	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:48422161C>T	ENST00000264313.6	+	7	1798	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	SLAIN2_ENST00000512093.1_Silent_p.F293F	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	460						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCAAATTCCGTTCCCCTG	0.428000													5	41					0	0	0.00198382	0	0
OR5H14	403273	broad.mit.edu	37	3	97868593	97868593	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97868593C>T	ENST00000437310.1	+	1	424	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATATGATCGCTATGTAGC	0.403000													10	101					0	0	0.000442599	0	0
STOML3	161003	broad.mit.edu	37	13	39564817	39564817	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:39564817C>T	ENST00000379631.4	-	1	386	c.42G>A	c.(40-42)gaG>gaA	p.E14E	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	14						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCACGAAATTCTCTTTATCTT	0.378000													16	56					0	0	0.00074312	0	0
FCER1A	2205	broad.mit.edu	37	1	159273877	159273877	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159273877A>T	ENST00000368115.1	+	4	335	c.236A>T	c.(235-237)aAt>aTt	p.N79I	FCER1A_ENST00000368114.1_Missense_Mutation_p.N46I	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	79	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCAAGTTTGAATATTGTGAAT	0.388000													19	47					0	0	0.00188189	0	0
CRB2	286204	broad.mit.edu	37	9	126132638	126132638	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:126132638G>A	ENST00000373631.3	+	7	1307	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	CRB2_ENST00000359999.3_Missense_Mutation_p.G436S|CRB2_ENST00000373629.2_Missense_Mutation_p.G104S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	436	EGF-like 9.|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACCGTTCTGTGGCCAGAATAC	0.617000													26	37					0	0	0.000692331	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145960	81145960	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81145960C>T	ENST00000533478.1	-	0	4846				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGCTGCTGTCTCACTGAAGC	0.517000													18	22					0	0	0.00152264	0	0
KCNIP2	30819	broad.mit.edu	37	10	103587676	103587676	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:103587676G>T	ENST00000358038.3	-	7	969	c.618C>A	c.(616-618)gcC>gcA	p.A206A	KCNIP2_ENST00000356640.2_Silent_p.A224A|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000353068.3_Silent_p.A181A|KCNIP2_ENST00000343195.4_Silent_p.A174A|KCNIP2_ENST00000370046.1_Silent_p.A138A|KCNIP2_ENST00000461105.1_Silent_p.A239A|KCNIP2_ENST00000348850.5_Silent_p.A179A	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	224	EF-hand 3.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GTTCCCTTGGGGCCTCCTCCC	0.552000													7	83					2.17888e-05	9.70296e-05	0.000442599	1	0
PDZD4	57595	broad.mit.edu	37	X	153069158	153069158	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153069158G>A	ENST00000164640.4	-	8	2151	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	PDZD4_ENST00000393758.2_Missense_Mutation_p.R579W|PDZD4_ENST00000544474.1_Missense_Mutation_p.R545W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	654						cell cortex		p.R654W(2)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCCTCCCGGATCTTCAGG	0.652000													25	40					0	0	0.000720815	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001725	18001725	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18001725G>A	ENST00000222248.3	+	14	2029	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	561					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.G561E(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGCCCCGGGATTGTTGTGG	0.602000													60	116					0	0	0.000781405	0	0
NYAP2	57624	broad.mit.edu	37	2	226447449	226447449	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:226447449C>T	ENST00000272907.6	+	4	1729	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	439	Pro-rich.																TCTCCCTCCCCCGTCAGCATG	0.642000													9	21					0	0	0.000442599	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873424	26873424	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26873424C>T	ENST00000374168.2	+	3	329	c.175C>T	c.(175-177)Cca>Tca	p.P59S	RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P59S|RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P43S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P68S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	59					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GAAGGCTGATCCATCCCATTT	0.562000													34	85					0	0	0.000953801	0	0
FOSL2	2355	broad.mit.edu	37	2	28634933	28634933	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:28634933C>T	ENST00000264716.4	+	4	1462	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FOSL2_ENST00000545753.1_Missense_Mutation_p.S161L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S192L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	200					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGCGCCGATCGCCCCCAGCC	0.642000													24	61					0	0	0.00106085	0	0
ADAM7	8756	broad.mit.edu	37	8	24333949	24333949	+	Missense_Mutation	SNP	C	C	T	rs148539948		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:24333949C>T	ENST00000175238.6	+	8	720	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	ADAM7_ENST00000380789.1_Missense_Mutation_p.R213C|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	213	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		tttCCAGTATCGCAGAAATGG	0.299000													7	33					0	0	0.00198382	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073359	17073359	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:17073359C>T	ENST00000359963.3	-	1	341	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	28					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCTCCTCCTCTTCTGGACTC	0.657000													25	65					0	0	0.000878237	0	0
LRP2	4036	broad.mit.edu	37	2	169995847	169995847	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:169995847G>A	ENST00000263816.3	-	74	13587	c.13302C>T	c.(13300-13302)atC>atT	p.I4434I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4434					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATTACGACGATCAAGAGGA	0.507000													13	31					0	0	0.000422831	0	0
GORASP2	26003	broad.mit.edu	37	2	171822317	171822317	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171822317T>C	ENST00000234160.4	+	10	1851	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P	GORASP2_ENST00000452526.2_Missense_Mutation_p.S358P|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	346	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACCTCTTCCTTCCATGCCTCC	0.517000													13	52					0	0	0.00229938	0	0
DCAF11	80344	broad.mit.edu	37	14	24587638	24587638	+	Missense_Mutation	SNP	C	C	T	rs151306695	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24587638C>T	ENST00000446197.3	+	7	1346	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	DCAF11_ENST00000559115.1_Missense_Mutation_p.R207C|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181C|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	207			R -> H (in dbSNP:rs3825584).			CUL4 RING ubiquitin ligase complex	protein binding										TGGCCGTTTCCGTAAATTCAA	0.488000													24	149					0	0	0.000720815	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173787010	173787010	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:173787010G>A	ENST00000397081.3	+	6	662	c.517_splice	c.e6-1	p.R173_splice	RAPGEF4_ENST00000539331.1_Splice_Site_p.R20_splice|RAPGEF4_ENST00000538974.1_Splice_Site_p.R20_splice|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Splice_Site_p.R29_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.R173_splice|RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000540783.1_Splice_Site_p.R20_splice	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	173					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTCCTTTAGGGATTCCTGACA	0.368000													73	244					0	0	0.000781405	0	0
ALKBH1	8846	broad.mit.edu	37	14	78170752	78170752	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78170752G>A	ENST00000216489.3	-	2	267	c.252C>T	c.(250-252)ccC>ccT	p.P84P	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	84					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P84P(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACTTGCTGACGGGCTGAAGAC	0.443000													21	124					0	0	0.00106085	0	0
TRIM72	493829	broad.mit.edu	37	16	31230790	31230790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31230790G>T	ENST00000322122.3	+	4	951	c.667G>T	c.(667-669)Gag>Tag	p.E223*		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	223					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCGGCAGATGGAGAAGGTCCT	0.677000													16	45					1.37285e-15	6.16303e-15	0.000422831	1	0
ZNF99	7652	broad.mit.edu	37	19	22941146	22941146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22941146G>A	ENST00000397104.3	-	5	1291	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S522L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAAGGGCTGAGAAATGCTT	0.348000													7	36					0	0	0.000673444	0	0
COL2A1	1280	broad.mit.edu	37	12	48374406	48374406	+	Silent	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:48374406T>A	ENST00000380518.3	-	39	2720	c.2556A>T	c.(2554-2556)ggA>ggT	p.G852G	COL2A1_ENST00000337299.6_Silent_p.G783G|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	852	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCCGGCCTCTCCTTGCTCAC	0.617000													5	19					0	0	0.00116845	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99619278	99619278	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:99619278G>A	ENST00000370602.1	+	2	141	c.76G>A	c.(76-78)Gac>Aac	p.D26N		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	26						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						TATCCAGAGAGACTACAGCGA	0.582000													11	37					0	0	0.00185496	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744528	19744528	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:19744528C>T	ENST00000284885.3	-	6	679	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	216	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTATTGTCTTCGTCAGAACCA	0.443000													8	42					0	0	0.000978159	0	0
ZNF100	163227	broad.mit.edu	37	19	21910780	21910780	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:21910780G>A	ENST00000358296.6	-	5	532	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	ZNF100_ENST00000305570.6_Missense_Mutation_p.H48Y	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGGAAAATGAGAACATATA	0.289000													8	27					0	0	0.000274275	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881174	142881174	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142881174G>A	ENST00000446620.1	+	1	663	c.663G>A	c.(661-663)ctG>ctA	p.L221L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	221					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L221L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGACTCCTCTGATCATGTTCA	0.502000													13	60					0	0	0.00185496	0	0
GORASP2	26003	broad.mit.edu	37	2	171822316	171822316	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171822316T>C	ENST00000234160.4	+	10	1850	c.1035T>C	c.(1033-1035)ccT>ccC	p.P345P	GORASP2_ENST00000452526.2_Silent_p.P357P|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	345	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CACCTCTTCCTTCCATGCCTC	0.512000													11	52					0	0	0.00229938	0	0
OR56B4	196335	broad.mit.edu	37	11	6129845	6129845	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6129845C>T	ENST00000316529.3	+	1	932	c.837C>T	c.(835-837)ttC>ttT	p.F279F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGTGTTCCTTAATGTGC	0.512000													18	66					0	0	0.000566183	0	0
EFNB3	1949	broad.mit.edu	37	17	7611341	7611341	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7611341C>T	ENST00000226091.2	+	2	585	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	63					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCTCTGCCCCCGGGCCCGG	0.622000													44	50					0	0	0.00195071	0	0
MUC16	94025	broad.mit.edu	37	19	9076429	9076429	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9076429G>A	ENST00000397910.4	-	3	11220	c.11017C>T	c.(11017-11019)Ccc>Tcc	p.P3673S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3674	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAGATGGGAGTAGATGCA	0.458000													15	36					0	0	0.000566183	0	0
KCNK10	54207	broad.mit.edu	37	14	88729771	88729771	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:88729771C>T	ENST00000340700.5	-	2	613	c.162G>A	c.(160-162)agG>agA	p.R54R	KCNK10_ENST00000312350.5_Silent_p.R59R|KCNK10_ENST00000319231.5_Silent_p.R59R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	54					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGCCTTCCATCCTGGCTACCA	0.622000													27	88					0	0	0.00178596	0	0
FCGBP	8857	broad.mit.edu	37	19	40396005	40396005	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:40396005G>A	ENST00000221347.6	-	15	7399	c.7392C>T	c.(7390-7392)ttC>ttT	p.F2464F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2464	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCGGCCATCGAAGGTGGTGT	0.672000													16	69					0	0	0.000566183	0	0
DNAJB6	10049	broad.mit.edu	37	7	157175009	157175009	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157175009C>T	ENST00000262177.4	+	6	621	c.416C>T	c.(415-417)tCg>tTg	p.S139L	DNAJB6_ENST00000429029.2_Missense_Mutation_p.S139L|DNAJB6_ENST00000452797.2_Missense_Mutation_p.S90L|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	139	Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGGACGGGGTCGTTTTTCTCT	0.423000													19	95					0	0	0.00152264	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12835290C>T	ENST00000357726.4	+	1	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592000													23	60					0	0	0.000720815	0	0
SON	6651	broad.mit.edu	37	21	34926081	34926081	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:34926081C>T	ENST00000356577.4	+	3	5019	c.4544C>T	c.(4543-4545)gCt>gTt	p.A1515V	SON_ENST00000290239.6_Missense_Mutation_p.A1515V|SON_ENST00000300278.4_Missense_Mutation_p.A1515V|SON_ENST00000381679.4_Missense_Mutation_p.A1515V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1515					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAACCACATGCTGAGGAACAC	0.353000													8	38					0	0	0.000157383	0	0
TRPM3	80036	broad.mit.edu	37	9	73477827	73477827	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:73477827G>A	ENST00000377110.2	-	3	702	c.459C>T	c.(457-459)gcC>gcT	p.A153A	TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377111.2_Silent_p.A153A|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Silent_p.A155A|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.A155A|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	153						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGATTACCATGGCTTTGTTGG	0.468000													20	35					0	0	0.00047179	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19313657	19313657	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:19313657C>T	ENST00000331552.6	-	2	435	c.72G>A	c.(70-72)caG>caA	p.Q24Q	NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000544883.1_Silent_p.Q24Q|NR2C2AP_ENST00000538165.2_Silent_p.Q24Q|NR2C2AP_ENST00000420605.2_Silent_p.Q24Q	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	24					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			TTTTTCCAAACTGCCGAGTGT	0.562000													24	97					0	0	0.00106085	0	0
KCNK10	54207	broad.mit.edu	37	14	88737108	88737108	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:88737108C>T	ENST00000312350.5	-	1	147	c.26G>A	c.(25-27)aGg>aAg	p.R9K	KCNK10_ENST00000340700.5_Intron|KCNK10_ENST00000319231.5_Intron	NM_138318.2	NP_612191.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						gccttcagtcctgtccccctt	0.507000													35	132					0	0	0.00195071	0	0
FAM179B	23116	broad.mit.edu	37	14	45513937	45513937	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:45513937A>G	ENST00000361462.2	+	13	4201	c.4018A>G	c.(4018-4020)Aca>Gca	p.T1340A	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.T1340A			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1340							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTAGATACCACAGTAAAAGT	0.368000													10	56					0	0	0.00185496	0	0
BMP6	654	broad.mit.edu	37	6	7880438	7880438	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7880438G>A	ENST00000283147.6	+	7	1563	c.1404G>A	c.(1402-1404)atG>atA	p.M468I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	468					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCACCTTATGAACCCCGAGT	0.448000													55	90					0	0	0.000781405	0	0
DPPA4	55211	broad.mit.edu	37	3	109047753	109047753	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:109047753G>A	ENST00000335658.6	-	6	916	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	288						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACACATTTGGGGCACAACATA	0.423000													7	60					0	0	0.000274275	0	0
SP5	389058	broad.mit.edu	37	2	171573029	171573029	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171573029C>T	ENST00000375281.3	+	2	474	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						TGCAGCCGTCCTTCGGGGCTG	0.711000													7	24					0	0	0.00198382	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494539	106494539	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106494539G>A	ENST00000390597.2	-	0	58																											CACATGAAGGGATGGTCAGCA	0.537000													5	25					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179604872	179604872	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179604872G>A	ENST00000589042.1	-	48	13312	c.13088C>T	c.(13087-13089)cCc>cTc	p.P4363L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4000L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P4192L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4125L|TTN_ENST00000591111.1_Missense_Mutation_p.P4046L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4046	Ig-like 23.						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)			TATTGCCACGGGCTCTCTTTT	0.448000													11	51					0	0	0.000978159	0	0
PRKDC	5591	broad.mit.edu	37	8	48701521	48701521	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:48701521G>A	ENST00000314191.2	-	77	10901	c.10845C>T	c.(10843-10845)gcC>gcT	p.A3615A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3615A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3616					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCACCCAAGGCTGCATACA	0.438000								Non-homologous end-joining					16	59					0	0	0.000958276	0	0
ABCB5	340273	broad.mit.edu	37	7	20687646	20687646	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:20687646G>A	ENST00000404938.2	+	11	1803	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	568	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCCATAGAAGGAACTGTGGAA	0.313000													5	47					0	0	0.000157383	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270307	18270307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:18270307G>A	ENST00000377369.2	+	6	1264	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SLC39A12_ENST00000377374.4_Missense_Mutation_p.E331K|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E197K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E331K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	331					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTTCTAAGGAGGACTTTAA	0.483000													20	39					0	0	0.00152264	0	0
ABCA13	154664	broad.mit.edu	37	7	48316016	48316016	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:48316016G>A	ENST00000435803.1	+	17	6777	c.6753G>A	c.(6751-6753)agG>agA	p.R2251R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2251					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						AAACTAGTAGGAAAACAGTTC	0.338000													6	23					0	0	0.00116845	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:137206693G>A	ENST00000453654.1	-	21	1806	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C|DGKI_ENST00000424189.2_Missense_Mutation_p.R744C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	723	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000													4	10					0	0	0.00116845	0	0
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				sensory perception	voltage-gated sodium channel complex		p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATAGCTCCGATAGGCCTTT	0.488000													20	59					0	0	0.00188189	0	0
CHAT	1103	broad.mit.edu	37	10	50854598	50854598	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50854598C>T	ENST00000395562.2	+	9	1382	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	CHAT_ENST00000455728.2_Missense_Mutation_p.L269F|CHAT_ENST00000395559.2_Missense_Mutation_p.L269F|CHAT_ENST00000351556.3_Missense_Mutation_p.L269F|CHAT_ENST00000337653.2_Missense_Mutation_p.L387F|CHAT_ENST00000339797.1_Missense_Mutation_p.L269F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	387			I -> T (in CMSEA; impaired activity; dbSNP:rs28929482).		neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTGCATCTGCCTTGTATGCCT	0.647000													17	87					0	0	0.00121646	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487906	161487906	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:161487906C>T	ENST00000271450.6	+	7	960	c.922C>T	c.(922-924)Cct>Tct	p.P308S	FCGR2A_ENST00000461298.1_Missense_Mutation_p.P43S|FCGR2A_ENST00000367972.4_Missense_Mutation_p.P307S|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	308						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGACTCTTCCTCCCAACGA	0.448000													18	78					0	0	0.00188189	0	0
ARID5A	10865	broad.mit.edu	37	2	97217942	97217942	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97217942C>T	ENST00000454558.2	+	7	2650	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ARID5A_ENST00000357485.3_Silent_p.F559F			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	559					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAACGTCCTTCGACAGTGCCC	0.667000													38	116					0	0	0.00170553	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842007	28842007	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28842007C>T	ENST00000336783.4	+	9	1273	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	ATXN2L_ENST00000564304.1_Missense_Mutation_p.S369F|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S369F|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S369F|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S369F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S369F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S369F	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	369						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCAGCAGCTCTCGGGGCGGT	0.607000													14	39					0	0	0.000219431	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701811	56701811	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56701811C>T	ENST00000586855.2	-	5	1186	c.873G>A	c.(871-873)ctG>ctA	p.L291L	ZSCAN5B_ENST00000358992.3_Silent_p.L291L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCTCAGATTCAGAGCATCTC	0.517000													47	97					0	0	0.000781405	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093036	43093036	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43093036G>A	ENST00000244336.5	-	4	959	c.858C>T	c.(856-858)atC>atT	p.I286I	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	286	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGATGTTGGGGATAAAGAGCT	0.498000													15	27					0	0	0.000219431	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508159	14508159	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:14508159G>A	ENST00000454876.2	+	7	1196		c.e7+1		SLC6A6_ENST00000360861.3_Splice_Site			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGACCCACAGGTACTGTGGGG	0.652000													28	90					0	0	0.000814825	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005959	44005959	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:44005959C>T	ENST00000372726.3	-	3	303	c.147G>A	c.(145-147)ttG>ttA	p.L49L	SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.L33L|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	49					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGAGTAGCTTCAAGAGCGACA	0.507000													69	182					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196722105	196722105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196722105C>T	ENST00000312428.6	-	44	8510	c.8410G>A	c.(8410-8412)Gat>Aat	p.D2804N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2804	Stalk (By similarity).				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						ACTTACTTATCATATGAATCC	0.358000													21	35					0	0	0.000586117	0	0
APOBR	55911	broad.mit.edu	37	16	28507203	28507203	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28507203G>A	ENST00000564831.1	+	2	874	c.841G>A	c.(841-843)Gag>Aag	p.E281K	APOBR_ENST00000431282.1_Missense_Mutation_p.E281K|APOBR_ENST00000328423.5_Missense_Mutation_p.E281K	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	281	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTTAGGCAGAGAGGAGGCCAG	0.612000													6	24					0	0	0.00198382	0	0
ZNF606	80095	broad.mit.edu	37	19	58491073	58491073	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:58491073G>A	ENST00000341164.4	-	7	1595	c.975C>T	c.(973-975)atC>atT	p.I325I	ZNF606_ENST00000536132.1_Silent_p.I235I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTGGTTAAAGATTTGATGGC	0.318000													32	55					0	0	0.00058488	0	0
MYH7	4625	broad.mit.edu	37	14	23886895	23886895	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886895C>T	ENST00000355349.3	-	31	4332	c.4169_splice	c.e31-1	p.K1390_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1390					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGCTTCTTCCTGCCCAGGG	0.582000													6	19					0	0	0.00116845	0	0
BRINP1	1620	broad.mit.edu	37	9	121971167	121971167	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:121971167G>A	ENST00000265922.3	-	7	1436	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		325					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGATGCTTCCGATGGTCAGGA	0.522000													22	43					0	0	0.00229938	0	0
PVRL1	5818	broad.mit.edu	37	11	119535808	119535808	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119535808G>A	ENST00000264025.3	-	6	1733	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	401					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGCCTGCCTTGCTGTAGCCGT	0.627000													38	76					0	0	0.000589545	0	0
HRH1	3269	broad.mit.edu	37	3	11301279	11301279	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11301279G>A	ENST00000397056.1	+	3	747	c.556G>A	c.(556-558)Gat>Aat	p.D186N	HRH1_ENST00000438284.2_Missense_Mutation_p.D186N|HRH1_ENST00000431010.2_Missense_Mutation_p.D186N	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGACTTCTATGATGTCACCTG	0.498000													53	114					0	0	0.000781405	0	0
CD300LF	146722	broad.mit.edu	37	17	72692343	72692343	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:72692343G>A	ENST00000469092.1	-	5	745	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	CD300LF_ENST00000361254.4_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.S194S|CD300LF_ENST00000583937.1_Silent_p.S206S|CD300LF_ENST00000301573.9_Missense_Mutation_p.P207S|CD300LF_ENST00000343125.4_Missense_Mutation_p.P157S|CD300LF_ENST00000581500.1_Intron|CD300LF_ENST00000326165.6_Silent_p.S191S			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	0						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGCTCTGGGGACATCCCGG	0.488000													36	69					0	0	0.00170553	0	0
GCOM1	145781	broad.mit.edu	37	15	57910262	57910262	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:57910262G>A	ENST00000574161.1	+	3	313	c.194G>A	c.(193-195)aGg>aAg	p.R65K	GCOM1_ENST00000380560.2_Missense_Mutation_p.R65K|MYZAP_ENST00000380565.4_Missense_Mutation_p.R65K|GCOM1_ENST00000380561.2_Missense_Mutation_p.R65K|GCOM1_ENST00000380569.2_Missense_Mutation_p.R65K|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.R65K|GCOM1_ENST00000572390.1_Missense_Mutation_p.R65K|GCOM1_ENST00000396180.1_Missense_Mutation_p.R65K|GCOM1_ENST00000380568.3_Missense_Mutation_p.R65K|GCOM1_ENST00000587652.1_Missense_Mutation_p.R65K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		65					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAACCTACCAGGAAACTTCCT	0.423000													9	48					0	0	0.000673444	0	0
GPR158	57512	broad.mit.edu	37	10	25887976	25887976	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:25887976G>A	ENST00000376351.3	+	11	3780	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1141						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGACACCAGGAAAAAAAGAC	0.453000													14	41					0	0	0.00185496	0	0
SHROOM2	357	broad.mit.edu	37	X	9900857	9900857	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:9900857C>T	ENST00000380913.3	+	6	3624	c.3534C>T	c.(3532-3534)ccC>ccT	p.P1178P	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Silent_p.P13P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1178					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGTTCGCCCCCCAGAAACTGA	0.632000													6	16					0	0	0.00198382	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476122	89476122	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89476122C>T	ENST00000484817.1	-	0	79																											CCCACTGGATCCTGAAATAAT	0.408000													9	49					0	0	0.000274275	0	0
IVL	3713	broad.mit.edu	37	1	152883960	152883960	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152883960G>A	ENST00000368764.3	+	2	1751	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	IVL_ENST00000392667.2_Missense_Mutation_p.G417R			P07476	INVO_HUMAN	involucrin	563					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCACAAAGGGAGAAGTATT	0.582000													13	47					0	0	0.000422831	0	0
MC5R	4161	broad.mit.edu	37	18	13826292	13826292	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:13826292C>T	ENST00000324750.3	+	1	750	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	176					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCGGCATTGTCTTCATCCTGT	0.562000													80	418					0	0	0.000781405	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095638	103095638	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103095638C>T	ENST00000295269.4	+	2	1054	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	199					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTGCTGTTCGGCAGCCTGA	0.617000													7	21					0	0	0.00198382	0	0
ERCC3	2071	broad.mit.edu	37	2	128047394	128047394	+	Silent	SNP	G	G	A	rs114994654	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128047394G>A	ENST00000493187.2	-	5	799	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ERCC3_ENST00000285398.2_Silent_p.F176F			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	176					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AACTTTCAACGAAGTATCTGC	0.512000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				39	109					0	0	0.000781405	0	0
IQCF3	401067	broad.mit.edu	37	3	51864774	51864774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51864774C>T	ENST00000456080.1	+	8	1587	c.422C>T	c.(421-423)cCt>cTt	p.P141L	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Missense_Mutation_p.P141L|IQCF3_ENST00000440739.2_Missense_Mutation_p.P141L|IQCF3_ENST00000437810.2_Missense_Mutation_p.P141L|IQCF3_ENST00000444293.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	141										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TATGCAATCCCTTCAAAGCAG	0.488000													22	46					0	0	0.000720815	0	0
HSPG2	3339	broad.mit.edu	37	1	22181372	22181372	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22181372G>A	ENST00000374695.3	-	48	6181	c.6102C>T	c.(6100-6102)gcC>gcT	p.A2034A	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2034	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCCGGGCCTGGGCAGTGCCTG	0.657000													12	36					0	0	0.000422831	0	0
SLIT2	9353	broad.mit.edu	37	4	20620397	20620397	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:20620397C>T	ENST00000504154.1	+	37	4607	c.4355C>T	c.(4354-4356)tCt>tTt	p.S1452F	SLIT2_ENST00000503823.1_Missense_Mutation_p.S1444F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S1465F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S1448F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1452					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTAGAAATCTCTTGTCGAGGG	0.428000													16	57					0	0	0.000958276	0	0
KIAA0391	9692	broad.mit.edu	37	14	35736016	35736016	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:35736016C>T	ENST00000557565.1	+	6	1740	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	KIAA0391_ENST00000534898.4_Silent_p.S453S|KIAA0391_ENST00000605870.1_Silent_p.S81S|KIAA0391_ENST00000604948.1_Silent_p.S358S|KIAA0391_ENST00000603544.1_Silent_p.S437S|KIAA0391_ENST00000321130.10_Silent_p.S437S|KIAA0391_ENST00000250377.7_Silent_p.S358S			O15091	MRRP3_HUMAN	KIAA0391	453				S -> F (in Ref. 3; BAG64540).	tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GACGGAGTTCCCAGTGGAGTC	0.473000													21	99					0	0	0.000375601	0	0
JAK3	3718	broad.mit.edu	37	19	17948773	17948773	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17948773C>T	ENST00000458235.1	-	12	1768	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	JAK3_ENST00000534444.1_Missense_Mutation_p.V557I|JAK3_ENST00000527670.1_Missense_Mutation_p.V557I	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	557	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCATCCATGACCTTCAGCAGC	0.582000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								105	246					0	0	0.000781405	0	0
DMRT2	10655	broad.mit.edu	37	9	1057218	1057218	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:1057218C>T	ENST00000382251.3	+	5	1960	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.S544F|DMRT2_ENST00000302441.6_Missense_Mutation_p.S544F|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	544					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTCATTTTCTGTTGAGTCT	0.403000													40	129					0	0	0.000589545	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841656	4841656	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4841656G>A	ENST00000225665.7	-	5	955	c.615C>T	c.(613-615)tcC>tcT	p.S205S	SLC25A11_ENST00000544061.2_Silent_p.S154S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	205					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AGAACTGCTTGGATTGGGAGT	0.627000													34	43					0	0	0.00195071	0	0
CRTC2	200186	broad.mit.edu	37	1	153921092	153921092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:153921092G>A	ENST00000368633.1	-	13	1830	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	CRTC2_ENST00000368630.3_Missense_Mutation_p.S248L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	568					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCTGGCTGATGGGCTCTC	0.537000													6	101					0	0	0.000442599	0	0
SCARB1	949	broad.mit.edu	37	12	125279809	125279809	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:125279809C>A	ENST00000339570.5	-	9	1330	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	SCARB1_ENST00000540495.1_Silent_p.T341T|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.T324T|SCARB1_ENST00000415380.2_Silent_p.T378T|SCARB1_ENST00000376788.1_Silent_p.T278T|SCARB1_ENST00000546215.1_Silent_p.T378T|SCARB1_ENST00000541205.1_Silent_p.T337T|SCARB1_ENST00000261693.6_Silent_p.T378T	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	378					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGGGGATTCCCGTGACCTGCG	0.602000													5	67					0.00116845	0.00515798	0.00116845	1	0
SESN2	83667	broad.mit.edu	37	1	28599131	28599131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:28599131G>A	ENST00000253063.3	+	5	898	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	193					cell cycle arrest	cytoplasm|nucleus		p.E193K(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCCTGGCCGAGCTCATTCA	0.642000													28	102					0	0	0.000814825	0	0
GRIA1	2890	broad.mit.edu	37	5	152870511	152870511	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:152870511C>T	ENST00000285900.5	+	1	406	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GRIA1_ENST00000340592.5_Silent_p.F21F|GRIA1_ENST00000518142.1_Silent_p.F21F|GRIA1_ENST00000518862.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	21					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGCCAATTTCCCCAACAATA	0.532000													19	99					0	0	0.000958276	0	0
MET	4233	broad.mit.edu	37	7	116409747	116409747	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:116409747G>A	ENST00000397752.3	+	12	2832	c.2632G>A	c.(2632-2634)Gga>Aga	p.G878R	MET_ENST00000318493.6_Missense_Mutation_p.G896R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	878					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTAAAAGTTGGAAATAAGAG	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				10	54					0	0	0.000978159	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514562	149514562	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149514562G>T	ENST00000261799.4	-	4	851	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	128					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATTAGGGAGGAAGCCCACG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								8	52					0.000274275	0.00121629	0.000274275	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12939636C>T	ENST00000235349.5	-	4	1236	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000													62	279					0	0	0.000781405	0	0
SCN8A	6334	broad.mit.edu	37	12	52100395	52100395	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52100395G>A	ENST00000354534.5	+	11	1709	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	SCN8A_ENST00000550891.1_Missense_Mutation_p.D511N|SCN8A_ENST00000545061.1_Missense_Mutation_p.D511N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	511					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGAGAAAGGGGATCCCGAGAA	0.448000													3	6					0	0	0.00024832	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856562	72856562	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:72856562G>A	ENST00000339594.4	-	19	4754	c.4416C>T	c.(4414-4416)gcC>gcT	p.A1472A	BAZ1B_ENST00000404251.1_Silent_p.A1472A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1472					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTCCAACGGCCTCTGGCT	0.587000													89	202					0	0	0.000781405	0	0
CDH13	1012	broad.mit.edu	37	16	83520204	83520204	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:83520204G>A	ENST00000566620.1	+	7	1194	c.904G>A	c.(904-906)Gat>Aat	p.D302N	CDH13_ENST00000268613.10_Missense_Mutation_p.D349N|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.D263N	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	302	Cadherin 2.				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	p.D302N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTTCTACATCGATCCTGAGAA	0.488000													24	29					0	0	0.00178596	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587261	42587261	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42587261G>A	ENST00000289957.2	+	5	939	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	271					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCCACATCGGTCTTGGTTTC	0.423000													37	128					0	0	0.00111076	0	0
NPY1R	4886	broad.mit.edu	37	4	164246712	164246712	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164246712G>A	ENST00000296533.2	-	3	1429	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	NPY1R_ENST00000509586.1_Silent_p.L57L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	300					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGAATAACAGATTGTGGTTG	0.438000													12	39					0	0	0.000219431	0	0
NPY5R	4889	broad.mit.edu	37	4	164272660	164272660	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164272660T>A	ENST00000515560.1	+	4	2757	c.1235T>A	c.(1234-1236)tTg>tAg	p.L412*	NPY5R_ENST00000506953.1_Nonsense_Mutation_p.L412*|NPY5R_ENST00000338566.3_Nonsense_Mutation_p.L412*			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	412					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.L412*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTGTCATTTGTTGGGCATG	0.348000													23	126					0	0	0.000375601	0	0
BAG3	9531	broad.mit.edu	37	10	121431837	121431837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:121431837G>A	ENST00000369085.3	+	3	884	c.578G>A	c.(577-579)aGg>aAg	p.R193K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	193					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCCTCCGGCAGGAGCAGCCTG	0.642000													7	25					0	0	0.00198382	0	0
PARD3B	117583	broad.mit.edu	37	2	206166532	206166532	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:206166532G>A	ENST00000462231.1	+	19	2869	c.2709G>A	c.(2707-2709)caG>caA	p.Q903Q	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTCGTCTTCAGCCAAATGCAT	0.458000													17	32					0	0	0.000566183	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454061	114454061	+	Missense_Mutation	SNP	C	C	T	rs145569979	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:114454061C>T	ENST00000369563.3	+	4	1293	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	283					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	p.R283C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCGAGCTTCGTGCCTTTGT	0.562000								Other identified genes with known or suspected DNA repair function					29	54					0	0	0.0024448	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63063322	63063322	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63063322C>A	ENST00000371129.3	+	1	165	c.85C>A	c.(85-87)Cta>Ata	p.L29I	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	29					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTGATTCTCTATCTCCAGA	0.343000													15	22					1.15088e-07	5.14276e-07	0.000422831	1	0
STRN4	29888	broad.mit.edu	37	19	47225256	47225256	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47225256G>A	ENST00000391910.3	-	16	2550	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	STRN4_ENST00000263280.6_Silent_p.F693F|STRN4_ENST00000539396.1_Silent_p.F574F			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	693						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGACATCAGGAATGCGCCGT	0.632000													41	52					0	0	0.000781405	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951492	235951492	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:235951492C>T	ENST00000409212.1	+	4	2586	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	SH3BP4_ENST00000392011.2_Silent_p.L693L|SH3BP4_ENST00000344528.4_Silent_p.L693L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	693					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGGTCAGGCTCCGGGGCCAGC	0.642000													17	37					0	0	0.00074312	0	0
LRP1	4035	broad.mit.edu	37	12	57592276	57592276	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:57592276C>T	ENST00000243077.3	+	60	9965	c.9499C>T	c.(9499-9501)Cat>Tat	p.H3167Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3167					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGGTGACCATTCACTGAT	0.617000													8	23					0	0	0.000442599	0	0
TRIML1	339976	broad.mit.edu	37	4	189068239	189068239	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189068239G>A	ENST00000332517.3	+	6	1260	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	374	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCACCTGGGGACCTGTTCTC	0.522000													17	71					0	0	0.000958276	0	0
MLYCD	23417	broad.mit.edu	37	16	83948703	83948703	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:83948703C>T	ENST00000262430.4	+	5	1110	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	364					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAGGAAATCTCGGAGATCACA	0.547000													60	113					0	0	0.000781405	0	0
GPR116	221395	broad.mit.edu	37	6	46830784	46830784	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:46830784C>T	ENST00000283296.7	-	15	2328	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	GPR116_ENST00000265417.7_Silent_p.G680G|GPR116_ENST00000545669.1_Silent_p.G109G|GPR116_ENST00000456426.2_Silent_p.G538G|GPR116_ENST00000362015.4_Silent_p.G680G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGATGACTTTCCCCGGCTCTC	0.498000													11	20					0	0	0.00136819	0	0
P4HA2	8974	broad.mit.edu	37	5	131543475	131543475	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:131543475G>A	ENST00000401867.1	-	9	1574	c.1006C>T	c.(1006-1008)Ccg>Tcg	p.P336S	P4HA2_ENST00000360568.3_Missense_Mutation_p.P336S|P4HA2_ENST00000379086.1_Missense_Mutation_p.P336S|P4HA2_ENST00000379104.2_Missense_Mutation_p.P336S|P4HA2_ENST00000166534.4_Missense_Mutation_p.P336S|P4HA2_ENST00000379100.2_Missense_Mutation_p.P336S			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	336						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACGATGTGCGGGCTGTCCCAC	0.532000													16	115					0	0	0.00074312	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158449913C>T	ENST00000368152.1	+	1	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000													22	101					0	0	0.00047179	0	0
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:96706580G>A	ENST00000389672.5	+	3	895	c.857G>A	c.(856-858)gGg>gAg	p.G286E	EPHA6_ENST00000470610.2_Missense_Mutation_p.G286E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	191						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAGACATTGGGGCGTGCATT	0.458000													59	126					0	0	0.000781405	0	0
IP6K3	117283	broad.mit.edu	37	6	33693307	33693307	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:33693307C>T	ENST00000451316.1	-	6	1211	c.676G>A	c.(676-678)Gat>Aat	p.D226N	IP6K3_ENST00000293756.4_Missense_Mutation_p.D226N	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	226					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCCGATGCATCATCGCCGTGC	0.582000													13	30					0	0	0.000308642	0	0
ZNF451	26036	broad.mit.edu	37	6	57006175	57006175	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:57006175C>T	ENST00000370706.4	+	8	1022	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L260F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTGCTTCCTTCTTTTTAG	0.373000													11	35					0	0	0.00185496	0	0
TNFSF14	8740	broad.mit.edu	37	19	6667457	6667457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6667457C>T	ENST00000326176.9	-	3	496	c.115G>A	c.(115-117)Gga>Aga	p.G39R	TNFSF14_ENST00000599359.1_Missense_Mutation_p.G75R|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G39R	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	75					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCTGCAGGTCCGTCCTGAAAA	0.617000													12	22					0	0	0.00136819	0	0
AFF4	27125	broad.mit.edu	37	5	132232717	132232717	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:132232717G>A	ENST00000265343.5	-	11	1984	c.1605C>T	c.(1603-1605)acC>acT	p.T535T	AFF4_ENST00000378595.3_Silent_p.T535T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	535					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTTTGGATGGTTTTGGAGT	0.493000													37	85					0	0	0.00195071	0	0
NR4A2	4929	broad.mit.edu	37	2	157182757	157182757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:157182757C>T	ENST00000339562.4	-	7	1807	c.1445G>A	c.(1444-1446)tGg>tAg	p.W482*	NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000409572.1_Nonsense_Mutation_p.W482*|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000426264.1_Nonsense_Mutation_p.W419*|NR4A2_ENST00000539077.1_Nonsense_Mutation_p.W493*	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	482					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGAATCAATCCATTCCCCAAA	0.473000													19	73					0	0	0.00121646	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516033	138516033	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:138516033C>T	ENST00000371763.1	-	5	994	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	247					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.L247L(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACTCCGTTCAGATATTCTT	0.383000													25	85					0	0	0.000720815	0	0
CLMN	79789	broad.mit.edu	37	14	95658023	95658023	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95658023G>A	ENST00000298912.4	-	13	3000	c.2887C>T	c.(2887-2889)Ccg>Tcg	p.P963S	CLMN_ENST00000557215.1_5'UTR|CLMN_ENST00000556441.1_Missense_Mutation_p.P28S	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	963			P -> L (in dbSNP:rs10149705).			integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCACTCTGCGGGCTGTGGCTC	0.532000													11	66					0	0	0.000219431	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20033087G>A	ENST00000377340.2	-	2	414	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000													23	67					0	0	0.00047179	0	0
CMYA5	202333	broad.mit.edu	37	5	79089401	79089401	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79089401C>T	ENST00000446378.2	+	12	11962	c.11931C>T	c.(11929-11931)acC>acT	p.T3977T	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3977	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGGGGAGACCTCATGGTACA	0.567000													8	39					0	0	0.000673444	0	0
MYO3A	53904	broad.mit.edu	37	10	26243928	26243928	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26243928G>C	ENST00000265944.5	+	4	460	c.294G>C	c.(292-294)ttG>ttC	p.L98F	MYO3A_ENST00000376301.1_Missense_Mutation_p.L98F|MYO3A_ENST00000543632.1_Missense_Mutation_p.L98F|MYO3A_ENST00000376302.1_Missense_Mutation_p.L98F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	98	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGTGGTTGGTTCTTGAGG	0.348000													12	81					0	0	0.00185496	0	0
SGK223	157285	broad.mit.edu	37	8	8234649	8234649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:8234649G>A	ENST00000520004.1	-	3	1534	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	SGK223_ENST00000330777.4_Missense_Mutation_p.P424S			Q86YV5	SG223_HUMAN		424							ATP binding|non-membrane spanning protein tyrosine kinase activity										GACTTGGAAGGCACCGGAGCT	0.632000													34	53					0	0	0.00148497	0	0
SMPD4	55627	broad.mit.edu	37	2	130930381	130930381	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:130930381G>A	ENST00000409031.1	-	6	1698	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	SMPD4_ENST00000351288.6_Missense_Mutation_p.L184F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.L111F|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.L71F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	145					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TTCAGACCAAGGCCCCCAGTA	0.607000													11	22					0	0	0.000978159	0	0
COX7A2	1347	broad.mit.edu	37	6	75953512	75953512	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:75953512G>A	ENST00000370081.2	-	2	345	c.35C>T	c.(34-36)cCg>cTg	p.P12L	COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000370089.2_Missense_Mutation_p.P12L			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TGGCCACGCCGGAACCGGAAC	0.522000													11	20					0	0	0.000978159	0	0
LAD1	3898	broad.mit.edu	37	1	201355609	201355609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201355609C>T	ENST00000391967.2	-	3	1181	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LAD1_ENST00000367313.3_Missense_Mutation_p.E308K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	294						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGGCGGCTCCTGCGCCAGG	0.637000													30	55					0	0	0.000692331	0	0
TENM4	26011	broad.mit.edu	37	11	78372622	78372622	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:78372622G>A	ENST00000278550.7	-	33	7885	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AAGGTGAGCAGCCAGCTGTTA	0.512000													10	15					0	0	0.000978159	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872434	18872434	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:18872434G>A	ENST00000447925.2	-	5	763	c.494C>T	c.(493-495)tCa>tTa	p.S165L	PLCZ1_ENST00000541695.1_Missense_Mutation_p.S30L|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S167L|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	167	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATGTGAAGATGAAATAAAATA	0.269000													15	25					0	0	0.000308642	0	0
C19orf44	84167	broad.mit.edu	37	19	16617511	16617511	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16617511G>A	ENST00000221671.3	+	4	1231		c.e4-1		CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTTAATTACAGAGTTTAGAAT	0.303000													6	26					0	0	0.000157383	0	0
IL1R1	3554	broad.mit.edu	37	2	102781284	102781284	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:102781284G>A	ENST00000410023.1	+	4	430	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	IL1R1_ENST00000233946.3_Missense_Mutation_p.E38K|IL1R1_ENST00000409589.1_Missense_Mutation_p.E38K|IL1R1_ENST00000424272.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409329.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409929.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409288.1_Missense_Mutation_p.E38K			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	38	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATCTGCAAATGAAATTGATGT	0.363000													20	41					0	0	0.00188189	0	0
DEFB116	245930	broad.mit.edu	37	20	29891016	29891016	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:29891016C>T	ENST00000400549.1	-	2	307	c.308G>A	c.(307-309)tGa>tAa	p.*103*		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	0					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGTGATATTCAAATGTGAGA	0.373000													19	49					0	0	0.00121646	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235301	137235301	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137235301G>A	ENST00000508638.1	+	5	676	c.621G>A	c.(619-621)tcG>tcA	p.S207S	PKD2L2_ENST00000508883.1_Silent_p.S207S|PKD2L2_ENST00000502810.1_Silent_p.S207S|PKD2L2_ENST00000290431.5_Silent_p.S207S|PKD2L2_ENST00000350250.4_Silent_p.S173S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	207						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCAAAATCGAAATCTGAAA	0.368000													11	65					0	0	0.000673444	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573449	106573449	+	RNA	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106573449T>G	ENST00000390601.2	-	0	254																											TGAAGGTGAATCCAGAGGCTG	0.552000													12	91					0	0	0.00136819	0	0
ROBO1	6091	broad.mit.edu	37	3	78710286	78710286	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:78710286G>A	ENST00000436010.2	-	14	3094	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	ROBO1_ENST00000464233.1_Silent_p.I738I|ROBO1_ENST00000467549.1_Silent_p.I702I|ROBO1_ENST00000495273.1_Silent_p.I702I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	738	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAGATCAGGGATTACCACAC	0.423000													16	32					0	0	0.000566183	0	0
CFHR1	3078	broad.mit.edu	37	1	196794625	196794625	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196794625C>T	ENST00000320493.5	+	2	165	c.77C>T	c.(76-78)cCa>cTa	p.P26L	CFHR1_ENST00000367424.3_Missense_Mutation_p.P26L|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	26	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGATTTTCCAAAAATAAAC	0.269000													8	25					0	0	0.000274275	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856563	72856563	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:72856563G>A	ENST00000339594.4	-	19	4753	c.4415C>T	c.(4414-4416)gCc>gTc	p.A1472V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1472V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1472					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGTCCAACGGCCTCTGGCTC	0.587000													88	203					0	0	0.000781405	0	0
EPHB1	2047	broad.mit.edu	37	3	134851825	134851825	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:134851825G>A	ENST00000398015.3	+	5	1601	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	411	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCATCAATGGAGTCTCCAG	0.592000													7	36					0	0	0.000157383	0	0
ARMC5	79798	broad.mit.edu	37	16	31477422	31477422	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31477422C>T	ENST00000408912.3	+	8	2622	c.2305C>T	c.(2305-2307)Ctg>Ttg	p.L769L	ARMC5_ENST00000538189.1_Silent_p.L706L|ARMC5_ENST00000412665.2_Silent_p.L318L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Silent_p.L674L|ARMC5_ENST00000563544.1_Silent_p.L674L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	674	BTB.						binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGGCGCCGGCTGCTTCTGGA	0.662000													19	38					0	0	0.000958276	0	0
UNC45B	146862	broad.mit.edu	37	17	33481754	33481754	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:33481754A>G	ENST00000268876.5	+	6	730	c.633A>G	c.(631-633)caA>caG	p.Q211Q	UNC45B_ENST00000433649.1_Silent_p.Q211Q|UNC45B_ENST00000394570.2_Silent_p.Q211Q|UNC45B_ENST00000591048.1_Silent_p.Q211Q|UNC45B_ENST00000378449.1_Silent_p.Q211Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	211					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCGGCCACCAAGCCAGAGTAA	0.612000													11	20					0	0	0.00185496	0	0
ATP8A2	51761	broad.mit.edu	37	13	26154085	26154085	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:26154085G>A	ENST00000381655.2	+	22	2149	c.2007_splice	c.e22+1	p.K669_splice	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Splice_Site_p.K629_splice	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	629					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCATTGAGAAGGTAACCGCAC	0.423000													9	9					0	0	0.000978159	0	0
GRM3	2913	broad.mit.edu	37	7	86479764	86479764	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:86479764C>T	ENST00000361669.2	+	5	3569	c.2470C>T	c.(2470-2472)Cac>Tac	p.H824Y	GRM3_ENST00000439827.1_Missense_Mutation_p.S468L|GRM3_ENST00000394720.2_Missense_Mutation_p.S466L|GRM3_ENST00000546348.1_Missense_Mutation_p.H416Y|GRM3_ENST00000536043.1_Missense_Mutation_p.H696Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	824					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCCAAGGTTCACATCATCCT	0.493000													11	21					0	0	0.000673444	0	0
SPTA1	6708	broad.mit.edu	37	1	158644424	158644424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158644424C>T	ENST00000368148.3	-	9	1334	c.1154G>A	c.(1153-1155)tGg>tAg	p.W385*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W385*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	385					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W385L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCGTTCATCCAGCCTGAGAG	0.468000													34	121					0	0	0.00111076	0	0
KANK4	163782	broad.mit.edu	37	1	62732423	62732423	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:62732423G>A	ENST00000371153.4	-	6	2678	c.2300C>T	c.(2299-2301)aCc>aTc	p.T767I	KANK4_ENST00000371150.1_Missense_Mutation_p.T123I|KANK4_ENST00000354381.3_Missense_Mutation_p.T139I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	767										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTGTGGTGGTCCCAGTTTC	0.403000													50	150					0	0	0.000781405	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100303	121100303	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121100303G>A	ENST00000273666.6	+	23	2854	c.2583G>A	c.(2581-2583)atG>atA	p.M861I	STXBP5L_ENST00000492541.1_Missense_Mutation_p.M861I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M835I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M837I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M837I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	861					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTCTGGGAATGGTGTTAATCA	0.408000													18	65					0	0	0.000566183	0	0
TNNI2	7136	broad.mit.edu	37	11	1862390	1862390	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:1862390G>A	ENST00000381906.1	+	7	475	c.406G>A	c.(406-408)Gac>Aac	p.D136N	TNNI2_ENST00000381905.3_Missense_Mutation_p.D136N|TNNI2_ENST00000252898.7_Missense_Mutation_p.D136N|TNNI2_ENST00000381911.1_Missense_Mutation_p.D136N	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	136					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGTGTGCATGGACCTGAGGGC	0.652000													14	41					0	0	0.000308642	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228884786C>T	ENST00000392056.3	-	7	830	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E262K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	262						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCACTTTTCCTTGTTGCAA	0.378000													59	173					0	0	0.000781405	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207901	140207901	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140207901G>A	ENST00000529310.1	+	1	339	c.225G>A	c.(223-225)ctG>ctA	p.L75L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L75L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.L75L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTTCTGGAGGTAAATC	0.632000													41	183					0	0	0.000680045	0	0
UBR1	197131	broad.mit.edu	37	15	43307948	43307948	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:43307948T>C	ENST00000290650.4	-	29	3225	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATACATGAGTTTATGAGTTT	0.373000													48	254					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143047514	143047514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143047514C>T	ENST00000343257.2	+	21	2540	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	818					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTTTTGATTCCTGCTGTATT	0.557000													10	26					0	0	0.00185496	0	0
GPR137	56834	broad.mit.edu	37	11	64055848	64055848	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64055848C>T	ENST00000539851.1	+	6	1287	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	GPR137_ENST00000438980.2_Silent_p.L274L|GPR137_ENST00000377702.4_Silent_p.L224L|GPR137_ENST00000313074.3_Silent_p.L274L|GPR137_ENST00000411458.1_Silent_p.L332L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	274						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CAAAGGCTACCTGGTATTTGG	0.637000													45	66					0	0	0.000781405	0	0
SAMD8	142891	broad.mit.edu	37	10	76910469	76910469	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:76910469C>T	ENST00000542569.1	+	2	286	c.183C>T	c.(181-183)gtC>gtT	p.V61V	SAMD8_ENST00000372687.3_Silent_p.V61V|SAMD8_ENST00000372690.3_Silent_p.V124V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	61	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAATCAAAGTCTTAGGGGACA	0.393000													17	68					0	0	0.00152264	0	0
SDPR	8436	broad.mit.edu	37	2	192700840	192700840	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:192700840C>T	ENST00000304141.4	-	2	1416	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	363						caveola|cytosol	phosphatidylserine binding|protein binding	p.G363R(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGTTACTCCCCCTGGAGGTC	0.567000													44	109					0	0	0.000781405	0	0
CSK	1445	broad.mit.edu	37	15	75091683	75091683	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75091683C>T	ENST00000220003.9	+	5	1042	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	CSK_ENST00000567571.1_Silent_p.L105L|CSK_ENST00000309470.9_Silent_p.L105L|CSK_ENST00000439220.2_Silent_p.L105L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	105	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AGGCCTGTTCCTGGTGCGGGA	0.627000													11	31					0	0	0.000978159	0	0
GRID1	2894	broad.mit.edu	37	10	87966146	87966146	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:87966146G>A	ENST00000327946.7	-	3	580	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	165						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAACATGACGAACTTCTGCC	0.617000										Multiple Myeloma(13;0.14)			8	34					0	0	0.000274275	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454559	48454559	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:48454559G>A	ENST00000358536.4	-	24	4824	c.4555C>T	c.(4555-4557)Ctg>Ttg	p.L1519L	PLXNB1_ENST00000448774.2_Silent_p.L130L|PLXNB1_ENST00000456774.1_Silent_p.L1336L|PLXNB1_ENST00000358459.4_Silent_p.L1336L|PLXNB1_ENST00000296440.6_Silent_p.L1519L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1519					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGTCCCTCAGGGCCTGCTTG	0.597000													47	92					0	0	0.000781405	0	0
RGL1	23179	broad.mit.edu	37	1	183816876	183816876	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:183816876C>T	ENST00000304685.3	+	4	881	c.420C>T	c.(418-420)tcC>tcT	p.S140S	RGL1_ENST00000539189.1_Silent_p.S105S|RGL1_ENST00000536277.1_Silent_p.S103S|RGL1_ENST00000367531.1_Silent_p.S140S|RGL1_ENST00000360851.3_Silent_p.S105S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	105	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCTTTGCCTCCACTAAAGAAG	0.453000													28	54					0	0	0.00106085	0	0
MORN3	283385	broad.mit.edu	37	12	122091164	122091164	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:122091164C>T	ENST00000355329.3	-	4	635	c.463_splice	c.e4-1	p.K155_splice		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	155										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GGTTCCCGTTCTCTGGGGGAA	0.587000													12	23					0	0	0.000308642	0	0
PLOD2	5352	broad.mit.edu	37	3	145799564	145799564	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:145799564C>T	ENST00000282903.5	-	12	1496	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	PLOD2_ENST00000494950.1_Missense_Mutation_p.R385Q|PLOD2_ENST00000360060.3_Missense_Mutation_p.R440Q|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.R100Q	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	440					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATCTTCAGATCGTGCATAGTA	0.368000													17	37					0	0	0.000958276	0	0
TEFM	79736	broad.mit.edu	37	17	29226340	29226340	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:29226340C>T	ENST00000581216.1	-	4	1551	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	310					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAGGATCCGCCTTCAGTATAG	0.408000													45	64					0	0	0.000781405	0	0
MCM6	4175	broad.mit.edu	37	2	136603847	136603847	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:136603847G>A	ENST00000264156.2	-	15	2229	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	723					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAGGTTAGAGATTCGGCAGT	0.478000													29	96					0	0	0.001512	0	0
PRKCZ	5590	broad.mit.edu	37	1	2080359	2080359	+	Missense_Mutation	SNP	C	C	T	rs146591213		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:2080359C>T	ENST00000400921.2	+	5	817	c.134C>T	c.(133-135)tCg>tTg	p.S45L	PRKCZ_ENST00000400920.1_Missense_Mutation_p.S45L|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	228	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		AAAGACGACTCGGAGGTGAGT	0.532000													28	72					0	0	0.00058488	0	0
PRSS35	167681	broad.mit.edu	37	6	84234041	84234041	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:84234041G>A	ENST00000536636.1	+	3	1226	c.881G>A	c.(880-882)gGa>gAa	p.G294E	PRSS35_ENST00000369700.3_Missense_Mutation_p.G294E	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	294	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGGAACTTGGAATCAGCCCA	0.488000													20	32					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9065364	9065364	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9065364C>T	ENST00000397910.4	-	3	22285	c.22082G>A	c.(22081-22083)aGa>aAa	p.R7361K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7363	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGGCAATCTCTGAGTCAT	0.502000													7	32					0	0	0.000274275	0	0
DSEL	92126	broad.mit.edu	37	18	65181576	65181576	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:65181576G>A	ENST00000310045.7	-	2	1773	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	90						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTGCACTTCTGATAGCTCTAA	0.398000													9	88					0	0	0.000673444	0	0
MECOM	2122	broad.mit.edu	37	3	168834404	168834404	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:168834404G>A	ENST00000464456.1	-	7	1892	c.692C>T	c.(691-693)tCc>tTc	p.S231F	MECOM_ENST00000472280.1_Missense_Mutation_p.S232F|MECOM_ENST00000264674.3_Missense_Mutation_p.S296F|MECOM_ENST00000392736.3_Missense_Mutation_p.S231F|MECOM_ENST00000433243.2_Missense_Mutation_p.S232F|MECOM_ENST00000494292.1_Missense_Mutation_p.S419F|MECOM_ENST00000460814.1_Missense_Mutation_p.S231F|MECOM_ENST00000468789.1_Missense_Mutation_p.S231F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTATTTAAGGAAGACGTAGT	0.453000													28	67					0	0	0.001512	0	0
TIMD4	91937	broad.mit.edu	37	5	156381593	156381593	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156381593G>A	ENST00000274532.2	-	2	289	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TIMD4_ENST00000407087.3_Missense_Mutation_p.S78L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	78	Ig-like V-type.					integral to membrane		p.S78*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTTTCTTGAGGTCACCCT	0.527000													59	283					0	0	0.000781405	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481317	140481317	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140481317G>A	ENST00000231130.2	+	1	1084	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTCGGGAGAGACTGTACT	0.478000													21	70					0	0	0.00188189	0	0
HELZ	9931	broad.mit.edu	37	17	65119265	65119265	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:65119265G>A	ENST00000358691.5	-	26	3617	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	HELZ_ENST00000580168.1_Missense_Mutation_p.P1152S	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTACAGAAGGATTGGGCTGA	0.373000													8	14					0	0	0.000442599	0	0
LPHN2	23266	broad.mit.edu	37	1	82416777	82416777	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:82416777C>T	ENST00000370728.1	+	10	2213	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L	LPHN2_ENST00000271029.4_Missense_Mutation_p.S523L|LPHN2_ENST00000370713.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370717.2_Missense_Mutation_p.S523L|LPHN2_ENST00000370721.1_Missense_Mutation_p.S461L|LPHN2_ENST00000359929.3_Missense_Mutation_p.S523L|LPHN2_ENST00000370723.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370725.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370727.1_Missense_Mutation_p.S523L|LPHN2_ENST00000394879.1_Missense_Mutation_p.S523L|LPHN2_ENST00000370715.1_Missense_Mutation_p.S523L|LPHN2_ENST00000335786.5_Missense_Mutation_p.S523L|LPHN2_ENST00000319517.6_Missense_Mutation_p.S523L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.S523L			O95490	LPHN2_HUMAN	latrophilin 2	523					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S523*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTGTACCTCACACTGGGTG	0.418000													16	56					0	0	0.000422831	0	0
CNTN3	5067	broad.mit.edu	37	3	74347186	74347186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:74347186C>T	ENST00000263665.6	-	17	2350	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	775	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTTTAACTTCATATGGTGAA	0.438000													20	73					0	0	0.00047179	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681030	176681030	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:176681030C>T	ENST00000367662.3	+	12	4875	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1237					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGGTTTCCCTGTGTTGCCA	0.453000													25	32					0	0	0.000878237	0	0
MYH7	4625	broad.mit.edu	37	14	23886368	23886368	+	Silent	SNP	G	G	A	rs139928934		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886368G>A	ENST00000355349.3	-	32	4675	c.4513C>T	c.(4513-4515)Ctg>Ttg	p.L1505L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1505					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCCTGCAGGTTTTTGTTC	0.592000													36	143					0	0	0.00170553	0	0
CSMD2	114784	broad.mit.edu	37	1	33990616	33990616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:33990616G>A	ENST00000373381.4	-	66	10438	c.10262C>T	c.(10261-10263)tCc>tTc	p.S3421F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3277						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCCACAGGGAATTCTTGGC	0.502000													70	149					0	0	0.000781405	0	0
MKL2	57496	broad.mit.edu	37	16	14342884	14342884	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:14342884G>A	ENST00000571589.1	+	13	2521	c.2349G>A	c.(2347-2349)caG>caA	p.Q783Q	MKL2_ENST00000341243.5_Silent_p.Q772Q|MKL2_ENST00000574045.1_Silent_p.Q733Q|MKL2_ENST00000318282.5_Silent_p.Q733Q	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	772	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTACCTCAGACACAAGACA	0.498000													14	14					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179577973	179577973	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179577973C>T	ENST00000589042.1	-	93	27112	c.26888G>A	c.(26887-26889)gGa>gAa	p.G8963E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7719E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8646E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8646	Ig-like 72.						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)			GATCTCATTTCCTTCATGGAA	0.433000													8	16					0	0	0.000157383	0	0
NOD1	10392	broad.mit.edu	37	7	30496450	30496450	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30496450G>A	ENST00000222823.4	-	4	613	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	NOD1_ENST00000423334.2_Silent_p.L30L	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	30	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGAGTGACCAGAAGTTCCCGA	0.488000													28	87					0	0	0.001512	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049620	81049620	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:81049620G>A	ENST00000334512.5	+	9	1086	c.514G>A	c.(514-516)Gga>Aga	p.G172R	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	172					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACGGTTTGGGGAGTAACCAA	0.592000													12	73					0	0	0.000308642	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033525	95033525	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95033525G>A	ENST00000557004.1	+	3	1289	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SERPINA4_ENST00000555095.1_Missense_Mutation_p.E290K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E290K|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	290					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.E290*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GAGGGAGATTGAAGAGGTTCT	0.468000													7	38					0	0	0.000274275	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733388	106733388	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106733388G>A	ENST00000390610.2	-	0	166																											GACCTTCACTGAGGCCCCAGG	0.577000													16	113					0	0	0.000422831	0	0
PDE10A	10846	broad.mit.edu	37	6	165801909	165801909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:165801909C>T	ENST00000366882.1	-	18	1814	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	PDE10A_ENST00000354448.4_Missense_Mutation_p.D554N|PDE10A_ENST00000539869.2_Missense_Mutation_p.D564N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	554					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGGTCCAGGTCATGACACAGA	0.498000													20	54					0	0	0.000375601	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111789	22111789	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22111789C>T	ENST00000390423.2	+	0	393																											CTGCCTCTTACCTCTGTGCTG	0.463000													12	41					0	0	0.00185496	0	0
FAM83H	286077	broad.mit.edu	37	8	144812355	144812355	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144812355C>T	ENST00000388913.3	-	2	523	c.398G>A	c.(397-399)aGc>aAc	p.S133N		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATACTGGGGCTGTCGGGGGG	0.662000													8	13					0	0	0.000274275	0	0
AMER3	205147	broad.mit.edu	37	2	131522187	131522187	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:131522187G>A	ENST00000423981.1	+	2	2652	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	AMER3_ENST00000321420.4_Missense_Mutation_p.E848K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TGGCCAGCCAGAAGTGGGGGC	0.622000													9	24					0	0	0.000978159	0	0
URB2	9816	broad.mit.edu	37	1	229771720	229771720	+	Missense_Mutation	SNP	C	C	T	rs115399585	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:229771720C>T	ENST00000258243.2	+	4	1496	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	454						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCGCTTATTCGTACTGTCTT	0.522000													59	137					0	0	0.000781405	0	0
KLHL1	57626	broad.mit.edu	37	13	70681351	70681351	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:70681351C>T	ENST00000377844.4	-	1	1240	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KLHL1_ENST00000545028.1_Missense_Mutation_p.E29K|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	161					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCACATCCTTCACCTGTTGCC	0.532000													15	91					0	0	0.00121646	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752644	156752644	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156752644G>A	ENST00000347377.6	+	17	2411	c.1980G>A	c.(1978-1980)atG>atA	p.M660I	CYFIP2_ENST00000521420.1_Missense_Mutation_p.M634I|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M464I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M660I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M359I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M585I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M685I|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	685					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCCATGATGGAGTAAGAGG	0.527000													20	138					0	0	0.00229938	0	0
IL4R	3566	broad.mit.edu	37	16	27356321	27356321	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:27356321C>T	ENST00000395762.2	+	5	600	c.341C>T	c.(340-342)tCc>tTc	p.S114F	IL4R_ENST00000170630.2_Missense_Mutation_p.S114F|IL4R_ENST00000543915.2_Missense_Mutation_p.S114F|IL4R_ENST00000449195.1_Missense_Mutation_p.S114F|IL4R_ENST00000380922.3_Missense_Mutation_p.S99F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	114					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAAGGGCTCCTTCAAGCCC	0.667000													17	54					0	0	0.000958276	0	0
FCER1A	2205	broad.mit.edu	37	1	159272205	159272205	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159272205C>T	ENST00000368115.1	+	2	150	c.51C>T	c.(49-51)ttC>ttT	p.F17F	FCER1A_ENST00000368114.1_Silent_p.F17F	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	17						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTTACTGTTCTTCGGTAAGT	0.498000													24	68					0	0	0.000720815	0	0
NCOA6	23054	broad.mit.edu	37	20	33328277	33328277	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33328277G>A	ENST00000374796.2	-	12	8353	c.5783C>T	c.(5782-5784)tCc>tTc	p.S1928F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1928F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1928	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CGGTACGGCGGAGATGAGCTC	0.587000													10	30					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179522819	179522819	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179522819C>T	ENST00000589042.1	-	186	38001	c.37777G>A	c.(37777-37779)Gct>Act	p.A12593T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10845	Ig-like 84.						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)			ACAATCGGAGCTTCTGGTTTT	0.408000													21	19					0	0	0.000586117	0	0
SYT3	84258	broad.mit.edu	37	19	51128455	51128455	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:51128455G>A	ENST00000338916.4	-	7	2304	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	SYT3_ENST00000600079.1_Silent_p.P557P|SYT3_ENST00000593901.1_Silent_p.P557P|SYT3_ENST00000544769.1_Silent_p.P557P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	557						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCTTGCGGGGATTGGCCA	0.682000													8	5					0	0	0.000157383	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671536	45671536	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45671536G>A	ENST00000270172.3	-	9	1222	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	DNMT3L_ENST00000418993.1_Missense_Mutation_p.P247S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	247					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGCCCAGGGGAGGTGTGGCG	0.642000													20	89					0	0	0.000586117	0	0
ANO4	121601	broad.mit.edu	37	12	101295594	101295594	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:101295594G>A	ENST00000392979.3	+	2	392	c.31G>A	c.(31-33)Gga>Aga	p.G11R	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G11R|ANO4_ENST00000538618.1_Missense_Mutation_p.G177R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATCACTAATGGAAAAACCAA	0.498000										HNSCC(74;0.22)			33	72					0	0	0.000491102	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182980	18182980	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18182980C>T	ENST00000600835.1	-	10	1266	c.963G>A	c.(961-963)tcG>tcA	p.S321S	IL12RB1_ENST00000593993.1_Silent_p.S321S|IL12RB1_ENST00000430026.2_Silent_p.S321S|IL12RB1_ENST00000322153.6_Silent_p.S321S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	321	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAATTGGTTCGAGGAGATGA	0.627000													12	36					0	0	0.00185496	0	0
TSTD2	158427	broad.mit.edu	37	9	100380097	100380097	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:100380097G>A	ENST00000341170.4	-	4	927	c.545C>T	c.(544-546)cCc>cTc	p.P182L	TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	182										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATCCATTGGGGATCCTCCAG	0.502000													19	31					0	0	0.00121646	0	0
CLCA1	1179	broad.mit.edu	37	1	86959213	86959213	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:86959213G>A	ENST00000234701.3	+	11	1962	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	CLCA1_ENST00000394711.1_Silent_p.Q537Q			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	537					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCAGTGGACAGAAGCAAGGTG	0.478000													13	55					0	0	0.000308642	0	0
ANGPT1	284	broad.mit.edu	37	8	108315572	108315572	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:108315572C>T	ENST00000520734.1	-	4	517	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77K			Q15389	ANGP1_HUMAN	angiopoietin 1	278					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCTCTTCCTCTCTTTTTCCT	0.313000													9	36					0	0	0.000442599	0	0
ANPEP	290	broad.mit.edu	37	15	90344717	90344717	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90344717T>C	ENST00000300060.6	-	11	2004	c.1691A>G	c.(1690-1692)gAg>gGg	p.E564G	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	564	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GAGGAAGTGCTCCTGGGAAAG	0.607000													9	53					0	0	0.000442599	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572290	90572290	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:90572290C>T	ENST00000551025.1	+	0	2299							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACAAGGACATCCTGAGAAATA	0.393000													74	128					0	0	0.000781405	0	0
PELI1	57162	broad.mit.edu	37	2	64327602	64327602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:64327602G>A	ENST00000358912.4	-	4	675	c.233C>T	c.(232-234)tCa>tTa	p.S78L	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	78					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TAAAGTATATGATATGCTATG	0.333000													47	88					0	0	0.000781405	0	0
BHMT	635	broad.mit.edu	37	5	78411640	78411640	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:78411640G>A	ENST00000274353.5	+	2	191	c.84G>A	c.(82-84)ggG>ggA	p.G28G	BHMT_ENST00000524080.1_Silent_p.G28G|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	28	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGATGGAGGGTTTGTCTTTG	0.478000													19	76					0	0	0.00188189	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208674	23208674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:23208674G>A	ENST00000300061.2	+	6	1146	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	335					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCATCGGCAGGATGAGTATCC	0.463000													13	39					0	0	0.000308642	0	0
TTL	150465	broad.mit.edu	37	2	113243522	113243522	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113243522G>T	ENST00000233336.5	+	2	377	c.186G>T	c.(184-186)gtG>gtT	p.V62V		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	62	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TACAGTTGGTGAATTACTACA	0.483000			T	ETV6	ALL								24	138					1.77063e-15	7.94568e-15	0.000878237	1	0
UNC13A	23025	broad.mit.edu	37	19	17785506	17785506	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17785506C>T	ENST00000428389.2	-	4	375	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	UNC13A_ENST00000552293.1_Missense_Mutation_p.V38M|UNC13A_ENST00000551649.1_Missense_Mutation_p.V38M|UNC13A_ENST00000550896.1_Missense_Mutation_p.V38M|UNC13A_ENST00000519716.2_Missense_Mutation_p.V38M|UNC13A_ENST00000252773.7_Missense_Mutation_p.V38M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	38					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGCCCCGCACCGCGATGGTC	0.602000													21	72					0	0	0.00127121	0	0
MAGI1	9223	broad.mit.edu	37	3	65346891	65346891	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:65346891C>T	ENST00000330909.8	-	23	3700	c.3701G>A	c.(3700-3702)gGc>gAc	p.G1234D	MAGI1_ENST00000402939.2_Missense_Mutation_p.G1206D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G1139D|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1235D	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1235					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGTACTGAGCCGTCTCCCCG	0.463000													20	57					0	0	0.00047179	0	0
OR6K2	81448	broad.mit.edu	37	1	158670041	158670041	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158670041G>A	ENST00000359610.2	-	1	445	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGGTCATGATAGAGGGAT	0.473000													11	57					0	0	0.00185496	0	0
RGS12	6002	broad.mit.edu	37	4	3319322	3319322	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3319322C>T	ENST00000336727.3	+	2	2329	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	RGS12_ENST00000382788.3_Silent_p.P475P|RGS12_ENST00000543385.1_Silent_p.P475P|RGS12_ENST00000344733.5_Silent_p.P475P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	475						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)		GGACTGGGCCCTTCTGTCCGG	0.682000													15	80					0	0	0.000308642	0	0
PDE6A	5145	broad.mit.edu	37	5	149240503	149240503	+	Silent	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149240503G>C	ENST00000255266.5	-	22	2657	c.2538C>G	c.(2536-2538)ccC>ccG	p.P846P		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	846					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCCTGGGCTGGGGTTTCCCC	0.572000													4	19					0	0	0.000602214	0	0
SFI1	9814	broad.mit.edu	37	22	31998226	31998226	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:31998226C>T	ENST00000432498.1	+	15	1873	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	SFI1_ENST00000400288.2_Missense_Mutation_p.L525F|SFI1_ENST00000414585.1_Missense_Mutation_p.L372F|SFI1_ENST00000400289.1_Missense_Mutation_p.L443F|SFI1_ENST00000443011.1_Missense_Mutation_p.L372F|SFI1_ENST00000443326.1_Missense_Mutation_p.L443F|SFI1_ENST00000540643.1_Missense_Mutation_p.L470F	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	525	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGTATTTTCTCTCTGGAGGCA	0.418000													62	235					0	0	0.000781405	0	0
NF2	4771	broad.mit.edu	37	22	30090780	30090780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:30090780G>T	ENST00000338641.4	+	16	2218	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	NF2_ENST00000361452.4_3'UTR|NF2_ENST00000361166.4_3'UTR|NF2_ENST00000361676.4_3'UTR|NF2_ENST00000397789.3_3'UTR|NF2_ENST00000353887.4_3'UTR|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000413209.2_Nonsense_Mutation_p.E163*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	593					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGCCTTCTTTGAAGAGCTCTA	0.582000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				9	25					0.00136819	0.00603289	0.00136819	1	0
KIF2C	11004	broad.mit.edu	37	1	45220441	45220441	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:45220441C>T	ENST00000372217.1	+	7	872	c.521C>T	c.(520-522)cCa>cTa	p.P174L	KIF2C_ENST00000372218.4_Missense_Mutation_p.P187L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.P115L|KIF2C_ENST00000372224.4_Missense_Mutation_p.P228L			Q99661	KIF2C_HUMAN	kinesin family member 2C	228	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.P228L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AGTAGTTTTCCAAACTGGGAA	0.433000													50	151					0	0	0.000781405	0	0
GBP5	115362	broad.mit.edu	37	1	89730507	89730507	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:89730507C>T	ENST00000343435.5	-	8	1547	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.M337I|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	337						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTTCTGGCCCATTTGCTGGT	0.542000													23	60					0	0	0.00047179	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141092	143141092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141092G>A	ENST00000332690.1	+	1	547	c.547G>A	c.(547-549)Gat>Aat	p.D183N	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	183					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.D183N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCACTGGCGATAGCATACG	0.408000													21	103					0	0	0.00188189	0	0
HRH2	3274	broad.mit.edu	37	5	175111126	175111126	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:175111126C>T	ENST00000231683.2	+	1	2663	c.890C>T	c.(889-891)aCc>aTc	p.T297I	HRH2_ENST00000377291.2_Missense_Mutation_p.T297I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	297					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	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)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GACTTCCGCACCGGGTACCAA	0.572000													7	28					0	0	0.00198382	0	0
DAPK3	1613	broad.mit.edu	37	19	3964360	3964360	+	Silent	SNP	G	G	A	rs112082802		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3964360G>A	ENST00000545797.2	-	4	678	c.435C>T	c.(433-435)atC>atT	p.I145I	DAPK3_ENST00000301264.3_Silent_p.I145I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	145	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCATGATGTTTTCCG	0.622000													19	54					0	0	0.000375601	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815807	179815807	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179815807G>A	ENST00000367612.3	-	6	1199	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	271						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCACAGGAAGGAACTCTGGCC	0.512000													32	62					0	0	0.00058488	0	0
IL36A	27179	broad.mit.edu	37	2	113765525	113765525	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113765525C>T	ENST00000259211.6	+	4	792	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	127					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTGGCTGGTTCATCGCTGTCA	0.507000													27	46					0	0	0.00106085	0	0
KALRN	8997	broad.mit.edu	37	3	124398310	124398310	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124398310G>A	ENST00000360013.3	+	51	7450	c.7323G>A	c.(7321-7323)acG>acA	p.T2441T	KALRN_ENST00000428018.2_Silent_p.T712T|KALRN_ENST00000291478.4_Silent_p.T744T|KALRN_ENST00000462213.1_Silent_p.T58T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2440					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCAAGGAGACGAACAGTTCCG	0.438000													62	138					0	0	0.000781405	0	0
PPRC1	23082	broad.mit.edu	37	10	103899634	103899634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:103899634C>T	ENST00000278070.2	+	5	1408	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	PPRC1_ENST00000413464.2_Nonsense_Mutation_p.R457*	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	457	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCAGAGAGCTCGAAAGGGCAG	0.602000													11	62					0	0	0.00185496	0	0
GMPPA	29926	broad.mit.edu	37	2	220370708	220370708	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220370708C>T	ENST00000358215.3	+	11	1276	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.P303S|GMPPA_ENST00000373908.1_Missense_Mutation_p.P303S|GMPPA_ENST00000313597.5_Missense_Mutation_p.P303S|GMPPA_ENST00000373917.3_Missense_Mutation_p.P356S	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	303					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		ACAGCTGGGCCCCAACGTCTC	0.587000													4	10					0	0	0.000602214	0	0
ROCK2	9475	broad.mit.edu	37	2	11347856	11347856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11347856G>A	ENST00000315872.6	-	20	2993	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R606*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	849					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTTACTTTCGAAGTTCAGCA	0.284000													7	40					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179396737	179396737	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179396737C>T	ENST00000589042.1	-	358	104829	c.104605G>A	c.(104605-104607)Gaa>Aaa	p.E34869K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25804K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32301K|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25996K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25929K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33228K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33228							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)			GTGTCATCTTCGTATTCCTCA	0.527000													7	18					0	0	0.00198382	0	0
IL7R	3575	broad.mit.edu	37	5	35876382	35876382	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:35876382G>A	ENST00000303115.3	+	8	1303	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	392					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGACTGCAGGGAGAGTGGCAA	0.532000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	19					0	0	0.000157383	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793982	140793982	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140793982C>T	ENST00000398610.2	+	1	1240	c.1240C>T	c.(1240-1242)Ctt>Ttt	p.L414F	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACAGAGCCCTTGACAGGGA	0.438000													17	109					0	0	0.00074312	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36190931	36190931	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:36190931G>A	ENST00000258840.6	-	16	2619	c.2229C>T	c.(2227-2229)acC>acT	p.T743T	RALGAPA1_ENST00000389698.3_Silent_p.T743T|RALGAPA1_ENST00000382366.3_Silent_p.T743T|RALGAPA1_ENST00000307138.6_Silent_p.T743T|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	743					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGCCTTTTCGGTTCCTGGAG	0.453000													18	70					0	0	0.00229938	0	0
TMEM131	23505	broad.mit.edu	37	2	98375372	98375372	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:98375372G>A	ENST00000186436.5	-	40	5579	c.5351C>T	c.(5350-5352)cCg>cTg	p.P1784L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1784	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGTGGGTCGGGGAGCCGGA	0.612000													4	10					0	0	0.000602214	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409715	69409715	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:69409715G>A	ENST00000303714.4	+	16	1598	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	426					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCAGGAATATGAATTCCCTGA	0.458000									Familial Infantile Hemangioma				19	100					0	0	0.00121646	0	0
EMC7	56851	broad.mit.edu	37	15	34376605	34376605	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:34376605G>A	ENST00000256545.4	-	5	767	c.659C>T	c.(658-660)tCa>tTa	p.S220L		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		AGATGATTTTGAAGAGAAGAG	0.468000													13	81					0	0	0.000219431	0	0
GON4L	54856	broad.mit.edu	37	1	155723072	155723072	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:155723072G>A	ENST00000437809.1	-	29	5887	c.5765C>T	c.(5764-5766)cCa>cTa	p.P1922L	GON4L_ENST00000271883.5_Missense_Mutation_p.P1922L|GON4L_ENST00000368331.1_Missense_Mutation_p.P1922L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1922					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCCTCTGGGGCTTCCTC	0.602000													20	59					0	0	0.000958276	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:65274970G>A	ENST00000381210.3	-	1	210	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_ENST00000507440.1_Missense_Mutation_p.H34Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000													16	71					0	0	0.000566183	0	0
LIFR	3977	broad.mit.edu	37	5	38530672	38530672	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38530672G>A	ENST00000263409.4	-	2	240	c.78C>T	c.(76-78)ttC>ttT	p.F26F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.F26F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	26					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACAGCCACTGGAAATTTGAAG	0.383000			T	PLAG1	salivary adenoma								11	50					0	0	0.000673444	0	0
PDLIM1	9124	broad.mit.edu	37	10	97006972	97006972	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:97006972C>T	ENST00000329399.6	-	5	793	c.685_splice	c.e5+1	p.G229_splice	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	229					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGCTGATTACCTTTTTCTTCA	0.473000											OREG0020387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	94					0	0	0.000958276	0	0
RPTN	126638	broad.mit.edu	37	1	152128866	152128866	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152128866C>T	ENST00000316073.3	-	3	773	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	237	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAATGAGAATCCTGAATTGGT	0.413000													18	101					0	0	0.00074312	0	0
FAM47A	158724	broad.mit.edu	37	X	34149583	34149583	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:34149583C>T	ENST00000346193.3	-	1	864	c.813G>A	c.(811-813)agG>agA	p.R271R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	271										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTCCAGCTTCCTCTCAGAAT	0.582000													6	14					0	0	0.00198382	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701670	103701670	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:103701670G>A	ENST00000245312.3	-	5	1484	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	296					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCGAGCTGGAAAATGCTGT	0.443000													10	46					0	0	0.00136819	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554605	44554605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44554605G>A	ENST00000330682.2	-	1	1844	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTAGTCTCGAATTGCCTTG	0.602000													22	755					0	0	0.00178596	0	0
NCOA3	8202	broad.mit.edu	37	20	46256410	46256410	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:46256410C>T	ENST00000372004.3	+	7	854	c.638C>T	c.(637-639)gCc>gTc	p.A213V	NCOA3_ENST00000341724.6_Missense_Mutation_p.A213V|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Missense_Mutation_p.A213V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A213V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	213					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GACATAAACGCCAGTCCTGAA	0.433000													29	79					0	0	0.00127121	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386522	98386522	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98386522C>T	ENST00000339364.5	-	10	1731	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E360K|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E137K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	538						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCAGTGGTCTCTGGTCTGGGC	0.537000													8	34					0	0	0.000978159	0	0
TM4SF4	7104	broad.mit.edu	37	3	149193655	149193655	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:149193655T>C	ENST00000305354.4	+	2	1124	c.220T>C	c.(220-222)Tgc>Cgc	p.C74R		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	74						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAACAATGACTGCTGTGGGTG	0.567000													10	8					0	0	0.000308642	0	0
DDX60L	91351	broad.mit.edu	37	4	169336629	169336629	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:169336629A>T	ENST00000511577.1	-	22	3156	c.2909T>A	c.(2908-2910)aTa>aAa	p.I970K	DDX60L_ENST00000260184.7_Missense_Mutation_p.I970K|DDX60L_ENST00000505890.1_Missense_Mutation_p.I970K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	970							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACTGAACATATATGCTTCTC	0.323000													9	29					0	0	0.000274275	0	0
RIN2	54453	broad.mit.edu	37	20	19981499	19981499	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:19981499C>T	ENST00000255006.6	+	12	2903	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.F436F	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	869					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCCACATCTTCCACTTTGTCT	0.522000													10	46					0	0	0.000673444	0	0
MACF1	23499	broad.mit.edu	37	1	39800435	39800435	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39800435G>A	ENST00000564288.1	+	37	8952	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q1165Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.Q2730Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q2762Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2730					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCTCATCAGGTGTTAAATG	0.383000													19	74					0	0	0.00121646	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754887	6754887	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6754887G>A	ENST00000245908.6	-	5	1205	c.936C>T	c.(934-936)caC>caT	p.H312H	SH2D3A_ENST00000437152.3_Silent_p.H190H	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	312					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCCAGGATGGTGCTCCAGGA	0.652000													45	118					0	0	0.000680045	0	0
GCK	2645	broad.mit.edu	37	7	44228525	44228525	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44228525C>T	ENST00000403799.3	-	1	497	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	GCK_ENST00000476008.1_Intron|GCK_ENST00000437084.1_Missense_Mutation_p.A10T	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	10					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCTTGGCGGCCTCCATCCTG	0.562000													49	328					0	0	0.000781405	0	0
NPAP1	23742	broad.mit.edu	37	15	24921521	24921521	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921521C>T	ENST00000329468.2	+	1	981	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGGTGCAGATCGAAGGGGAGG	0.612000													6	35					0	0	0.00198382	0	0
UPF1	5976	broad.mit.edu	37	19	18961604	18961604	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18961604C>T	ENST00000262803.5	+	5	1009	c.737C>T	c.(736-738)cCc>cTc	p.P246L	UPF1_ENST00000599848.1_Missense_Mutation_p.P246L|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	246	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTCAAGATCCCCTCCGAGCAG	0.652000													9	16					0	0	0.000673444	0	0
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458000													9	61					0	0	0.000442599	0	0
TBL1X	6907	broad.mit.edu	37	X	9659683	9659683	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:9659683C>A	ENST00000217964.7	+	8	1321	c.681C>A	c.(679-681)gtC>gtA	p.V227V	TBL1X_ENST00000407597.2_Silent_p.V227V|TBL1X_ENST00000424279.1_Silent_p.V176V|TBL1X_ENST00000536365.1_Silent_p.V176V|TBL1X_ENST00000380961.1_Silent_p.V176V	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	227					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AAGCCACAGTCCTTCGGGGCC	0.522000													17	28					9.7654e-05	0.000434374	0.000958276	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596521	24596521	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:24596521C>T	ENST00000535378.1	-	4	996	c.354G>A	c.(352-354)tcG>tcA	p.S118S	KIAA0319_ENST00000543707.1_Silent_p.S127S|KIAA0319_ENST00000430948.2_Silent_p.S82S|KIAA0319_ENST00000378214.3_Silent_p.S127S|KIAA0319_ENST00000537886.1_Silent_p.S127S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	127					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCAGATCCCCGAGGGGGAGC	0.552000													13	27					0	0	0.00185496	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514903	233514903	+	Silent	SNP	G	G	A	rs67350624		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:233514903G>A	ENST00000366624.3	+	9	2412	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K	MLK4_ENST00000366622.1_Silent_p.K163K	NM_032435.2	NP_115811.2																					CCCAGAGAAAGAAAACGGAGT	0.542000													7	38					0	0	0.00198382	0	0
IGSF22	283284	broad.mit.edu	37	11	18730994	18730994	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18730994C>T	ENST00000513874.1	-	18	3077	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	879										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ACCCCAGCCTCATTCACAGCC	0.577000													40	71					0	0	0.000781405	0	0
AK7	122481	broad.mit.edu	37	14	96944872	96944872	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96944872C>T	ENST00000267584.4	+	15	1670	c.1626C>T	c.(1624-1626)atC>atT	p.I542I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	542					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGAGAGCATCGTGGCGGGGA	0.517000													19	78					0	0	0.00188189	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601235	31601235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31601235C>T	ENST00000376033.2	+	17	4633	c.4399C>T	c.(4399-4401)Caa>Taa	p.Q1467*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.Q1467*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1467	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCTGGACCAAGTTATCCA	0.602000													20	37					0	0	0.00152264	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981045	2981045	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2981045G>C	ENST00000380542.4	-	9	841	c.701C>G	c.(700-702)gCt>gGt	p.A234G	NAP1L4_ENST00000526115.1_Missense_Mutation_p.A234G	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	234					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AAAGGGATCAGCCTTATCTGG	0.368000													31	415					0	0	0.000692331	0	0
ABCA8	10351	broad.mit.edu	37	17	66898931	66898931	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:66898931G>A	ENST00000269080.2	-	19	2704	c.2567C>T	c.(2566-2568)tCt>tTt	p.S856F	ABCA8_ENST00000586539.1_Missense_Mutation_p.S896F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S896F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	856						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAATGAGGAGAAAGTTCCCA	0.383000													31	44					0	0	0.00178596	0	0
ZNF846	162993	broad.mit.edu	37	19	9868407	9868407	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9868407G>A	ENST00000397902.2	-	6	1759	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACATTCACAGGCCTTTTCTCC	0.433000													17	58					0	0	0.00121646	0	0
CMYA5	202333	broad.mit.edu	37	5	79025289	79025289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79025289C>T	ENST00000446378.2	+	2	732	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	234						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTTTAATTCGGTTAAAGAA	0.323000													9	37					0	0	0.000442599	0	0
DAGLA	747	broad.mit.edu	37	11	61504722	61504722	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61504722C>T	ENST00000257215.5	+	14	1556	c.1440C>T	c.(1438-1440)atC>atT	p.I480I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	480					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCTGCCATCCTCTCCTTCC	0.647000													60	129					0	0	0.000781405	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950737	209950737	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:209950737G>A	ENST00000367024.1	+	12	1610	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537000													7	28					0	0	0.000157383	0	0
MCTP1	79772	broad.mit.edu	37	5	94248532	94248532	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:94248532C>T	ENST00000515393.1	-	9	1499	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G	MCTP1_ENST00000505078.1_Silent_p.G16G|MCTP1_ENST00000312216.8_Silent_p.G279G|MCTP1_ENST00000429576.2_Silent_p.G233G|MCTP1_ENST00000505208.1_Silent_p.G279G	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	500	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACTTCTGATGCCCAAGCCGGA	0.468000													13	43					0	0	0.000422831	0	0
FAM217B	63939	broad.mit.edu	37	20	58519530	58519530	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:58519530C>T	ENST00000358293.3	+	5	947	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F	FAM217B_ENST00000360816.3_Missense_Mutation_p.L178F|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	178																	GGGAGGACTTCTTGGGAAGTA	0.532000													20	43					0	0	0.000586117	0	0
ZNF35	7584	broad.mit.edu	37	3	44692677	44692677	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:44692677T>C	ENST00000396056.2	+	2	353	c.118T>C	c.(118-120)Tcc>Ccc	p.S40P	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Missense_Mutation_p.S40P|ZNF35_ENST00000453164.1_Missense_Mutation_p.S40P|ZNF35_ENST00000399560.2_Missense_Mutation_p.S40P|ZNF35_ENST00000542250.1_5'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	40	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACAAGTGCACTCCGAGAACAT	0.547000													12	53					0	0	0.00185496	0	0
OR1J2	26740	broad.mit.edu	37	9	125273126	125273126	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125273126G>A	ENST00000335302.5	+	1	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTCCTTCTGGGCCTCCCCAT	0.557000													33	65					0	0	0.00222228	0	0
LAMA5	3911	broad.mit.edu	37	20	60902685	60902685	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:60902685C>T	ENST00000252999.3	-	37	4904	c.4838G>A	c.(4837-4839)gGg>gAg	p.G1613E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1613	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGAAGGTCCCAAGGCTGCA	0.642000													5	49					0	0	0.00116845	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355752	16355752	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:16355752G>T	ENST00000375692.1	+	13	1313	c.1185G>T	c.(1183-1185)cgG>cgT	p.R395R	CLCNKA_ENST00000331433.4_Silent_p.R395R|CLCNKA_ENST00000420078.1_Silent_p.R395R|CLCNKA_ENST00000439316.2_Silent_p.R352R|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	395					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCACCCGCGGTTCACCATCT	0.642000													20	64					4.7796e-09	2.13743e-08	0.000720815	1	0
DPPA4	55211	broad.mit.edu	37	3	109050829	109050829	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:109050829C>T	ENST00000335658.6	-	3	282	c.228G>A	c.(226-228)caG>caA	p.Q76Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	76						nucleus	protein binding	p.Q76Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTATCTTCTTCTGAGGTCTGG	0.458000													25	108					0	0	0.000586117	0	0
MN1	4330	broad.mit.edu	37	22	28192897	28192897	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:28192897C>T	ENST00000302326.4	-	1	4589	c.3635G>A	c.(3634-3636)aGc>aAc	p.S1212N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1212							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCAATGGTGCTCATGGCGCT	0.662000			T	ETV6	"""AML, meningioma"""								18	41					0	0	0.00074312	0	0
MYOM3	127294	broad.mit.edu	37	1	24410969	24410969	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:24410969G>A	ENST00000330966.7	-	16	2124	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.I653I|MYOM3_ENST00000329601.7_Silent_p.I653I|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	653	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGCCTTGGATGGGTTTGT	0.468000													26	116					0	0	0.00178596	0	0
ZIK1	284307	broad.mit.edu	37	19	58101610	58101610	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:58101610C>T	ENST00000597850.1	+	4	646	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZIK1_ENST00000599456.1_Missense_Mutation_p.S89F|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S131F	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCAAAGAAATCCTTGAAGAGG	0.463000													24	40					0	0	0.00229938	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802612	140802612	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140802612C>T	ENST00000398587.2	+	1	1851	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.S606S|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGCTGTCCTATCGCCTGC	0.667000													12	67					0	0	0.00136819	0	0
DAPK2	23604	broad.mit.edu	37	15	64218259	64218259	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:64218259C>T	ENST00000261891.3	-	7	698	c.693G>A	c.(691-693)acG>acA	p.T231T	DAPK2_ENST00000558069.1_Silent_p.T231T|DAPK2_ENST00000457488.1_Silent_p.T231T			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	231	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TTTCCTGCTTCGTGTCTCCCA	0.488000													8	59					0	0	0.000157383	0	0
GPR107	57720	broad.mit.edu	37	9	132866738	132866738	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:132866738G>A	ENST00000372406.1	+	13	1678	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	GPR107_ENST00000347136.6_Missense_Mutation_p.E391K|GPR107_ENST00000372410.3_Missense_Mutation_p.E391K	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	391						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGAGTCCACCGAGGAGGGCAC	0.517000													15	25					0	0	0.000566183	0	0
ACMSD	130013	broad.mit.edu	37	2	135621039	135621039	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135621039C>T	ENST00000356140.5	+	5	460	c.324C>T	c.(322-324)ccC>ccT	p.P108P	ACMSD_ENST00000283054.4_Silent_p.P50P|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.P50P	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	108					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGAGCTACCCCAGGAGGTTCG	0.587000													31	76					0	0	0.00178596	0	0
OR4D2	124538	broad.mit.edu	37	17	56247718	56247718	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:56247718G>A	ENST00000545221.1	+	1	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGGCAAGAAGGAAGGCAGCTT	0.537000													22	41					0	0	0.00188189	0	0
KCNS3	3790	broad.mit.edu	37	2	18112486	18112486	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:18112486C>T	ENST00000403915.1	+	3	662	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	KCNS3_ENST00000304101.4_Missense_Mutation_p.R71W|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	71					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACTTTGATCGGAATCCCTC	0.468000													11	84					0	0	0.000673444	0	0
ADCY8	114	broad.mit.edu	37	8	131964149	131964149	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:131964149G>A	ENST00000286355.5	-	3	3298	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADCY8_ENST00000377928.3_Silent_p.F402F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	402					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)			AGATCCGATGGAACTGGTGCT	0.527000										HNSCC(32;0.087)			7	23					0	0	0.000157383	0	0
NUP188	23511	broad.mit.edu	37	9	131762069	131762069	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:131762069G>A	ENST00000372577.2	+	34	3849	c.3828G>A	c.(3826-3828)agG>agA	p.R1276R		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1276					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCCGGCACAGGGACCAGCGTG	0.587000													13	23					0	0	0.000308642	0	0
CXCR1	3577	broad.mit.edu	37	2	219029590	219029590	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219029590G>A	ENST00000295683.2	-	2	465	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	115					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CTTCCTTCAGGAGTGAGACCA	0.562000													12	37					0	0	0.000219431	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279858	39279858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39279858G>A	ENST00000394014.1	-	1	561	c.517C>T	c.(517-519)Cga>Tga	p.R173*		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	173						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGAGACTCGGCCACAGACT	0.637000													7	11					0	0	0.000157383	0	0
ZW10	9183	broad.mit.edu	37	11	113629350	113629350	+	Missense_Mutation	SNP	G	G	A	rs145015648		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113629350G>A	ENST00000200135.3	-	6	803	c.659C>T	c.(658-660)cCt>cTt	p.P220L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	220	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GGGTGGCATAGGGGTCTTCTC	0.383000													10	16					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179558413	179558413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179558413G>A	ENST00000589042.1	-	119	31741	c.31517C>T	c.(31516-31518)cCc>cTc	p.P10506L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9262L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10189L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10189	Glu-rich.|Pro-rich.						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)			TTGTACCTCGGGGACTTAAAA	0.313000													6	21					0	0	0.00198382	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12883539	12883539	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:12883539C>T	ENST00000379672.5	+	19	2228	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.T637I|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.T643I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	643					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGTCCTCACACCCTCCGGAAA	0.627000													6	25					0	0	0.000673444	0	0
SLC36A4	120103	broad.mit.edu	37	11	92918857	92918857	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92918857G>A	ENST00000326402.4	-	2	309	c.179_splice	c.e2+1	p.S60_splice	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	60					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAACACTTACGAAATGCCCTC	0.348000													148	229					0	0	0.000781405	0	0
ADSL	158	broad.mit.edu	37	22	40742611	40742611	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40742611C>T	ENST00000216194.7	+	1	105	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	ADSL_ENST00000454266.2_Missense_Mutation_p.L17F|ADSL_ENST00000342312.6_Missense_Mutation_p.L17F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	17					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCGCTCACCTCTTGCCTCCCG	0.647000													4	17					0	0	0.000602214	0	0
MYH13	8735	broad.mit.edu	37	17	10258228	10258228	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10258228C>T	ENST00000418404.3	-	9	1048	c.885G>A	c.(883-885)aaG>aaA	p.K295K	MYH13_ENST00000252172.4_Silent_p.K295K|MYH13_ENST00000570743.1_Silent_p.K295K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	295	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTTCTGGCTTCTTGTTTGACA	0.343000													16	34					0	0	0.000566183	0	0
CNST	163882	broad.mit.edu	37	1	246810883	246810883	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:246810883C>T	ENST00000366513.4	+	9	1649	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	CNST_ENST00000366512.3_Silent_p.L460L|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	460					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAAAGAACTCCGTTTGCCAC	0.478000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	155					0	0	0.000781405	0	0
CCR8	1237	broad.mit.edu	37	3	39374497	39374497	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:39374497G>A	ENST00000326306.4	+	2	813	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.L142L	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	225					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCACCAGCTGAAGAGGTGTC	0.418000													9	49					0	0	0.00185496	0	0
TMEM67	91147	broad.mit.edu	37	8	94809567	94809567	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:94809567G>A	ENST00000453321.3	+	20	2027	c.1969G>A	c.(1969-1971)Ggt>Agt	p.G657S	TMEM67_ENST00000409623.3_Missense_Mutation_p.G576S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	657					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGGTGAGGGTGGTGTACGAAG	0.348000													12	71					0	0	0.000308642	0	0
ESR2	2100	broad.mit.edu	37	14	64735585	64735585	+	Missense_Mutation	SNP	C	C	T	rs145278854		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:64735585C>T	ENST00000557772.1	-	3	579	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ESR2_ENST00000358599.5_Missense_Mutation_p.D194N|ESR2_ENST00000357782.2_Missense_Mutation_p.D194N|ESR2_ENST00000542956.1_Missense_Mutation_p.D194N|ESR2_ENST00000554572.1_Missense_Mutation_p.D194N|ESR2_ENST00000353772.3_Missense_Mutation_p.D194N|ESR2_ENST00000553796.1_Missense_Mutation_p.D194N|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.D194N|ESR2_ENST00000341099.4_Missense_Mutation_p.D194N|ESR2_ENST00000555278.1_Missense_Mutation_p.D194N	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	194					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGGTTTTTATCGATTGTACAC	0.423000													26	98					0	0	0.00106085	0	0
ASTL	431705	broad.mit.edu	37	2	96799745	96799745	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:96799745C>T	ENST00000342380.2	-	4	295	c.296G>A	c.(295-297)aGt>aAt	p.S99N		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	99					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACGACACCACTACCACCCAT	0.612000													9	45					0	0	0.00136819	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629272	9629272	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:9629272G>A	ENST00000382492.2	-	1	1191	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	291					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTGGAGGAGGAACTTTTTTG	0.403000													13	53					0	0	0.000308642	0	0
FLNC	2318	broad.mit.edu	37	7	128484164	128484164	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128484164C>T	ENST00000325888.8	+	20	3297	c.3036C>T	c.(3034-3036)ccC>ccT	p.P1012P	FLNC_ENST00000346177.6_Silent_p.P1012P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1012					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCCATCCCCTGCAAGCTGG	0.642000													4	42					0	0	0.000602214	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813572	106813572	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:106813572C>T	ENST00000407775.2	+	8	1512	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P289L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P289L|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	421					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCGAACTTCCCCAGAGCCAA	0.498000													4	20					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179606422	179606422	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179606422G>A	ENST00000589042.1	-	48	11762	c.11538C>T	c.(11536-11538)atC>atT	p.I3846I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3483I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.I3675I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.I3608I|TTN_ENST00000591111.1_Silent_p.I3529I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3529							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)			TAGGTTTGGGGATGCCAATGA	0.423000													22	47					0	0	0.000720815	0	0
TSIX	9383	broad.mit.edu	37	X	73041824	73041824	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73041824G>A	ENST00000604411.1	+	0	29785				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CGTTATCTGAGGATTGTTTCT	0.333000													6	12					0	0	0.00198382	0	0
NEXN	91624	broad.mit.edu	37	1	78392407	78392407	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:78392407G>A	ENST00000330010.8	+	7	799	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	NEXN_ENST00000334785.7_Missense_Mutation_p.E232K|NEXN_ENST00000457030.1_Missense_Mutation_p.E218K	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	232	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTAGGATGATGAAATAGAAAG	0.338000													46	172					0	0	0.000781405	0	0
CLASP1	23332	broad.mit.edu	37	2	122227479	122227479	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:122227479G>A	ENST00000263710.4	-	9	1159	c.770C>T	c.(769-771)tCt>tTt	p.S257F	CLASP1_ENST00000409078.3_Missense_Mutation_p.S257F|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000455322.2_Missense_Mutation_p.S257F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S26F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S257F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S25F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S257F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	257					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTAGAACTAGCAGA	0.443000													20	69					0	0	0.00047179	0	0
NEK10	152110	broad.mit.edu	37	3	27203969	27203969	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:27203969C>T	ENST00000429845.2	-	32	3355	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.R310Q|NEK10_ENST00000295720.6_Missense_Mutation_p.R310Q|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000357467.2_Missense_Mutation_p.R395Q			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	998							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGAGATTTCGAAGAATCAC	0.458000													23	68					0	0	0.000375601	0	0
GOT2	2806	broad.mit.edu	37	16	58757769	58757769	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:58757769G>A	ENST00000245206.5	-	2	255	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.P43S	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	43					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAGAATGGGATCTGGAGGT	0.448000													20	102					0	0	0.00152264	0	0
KRT5	3852	broad.mit.edu	37	12	52913627	52913627	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52913627G>A	ENST00000252242.4	-	1	844	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	152	Head.		P -> L (in WC-EBS; dbSNP:rs60617604).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGAGGGGAGTCAGGAGA	0.577000													31	51					0	0	0.000692331	0	0
ADAM12	8038	broad.mit.edu	37	10	127760159	127760159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:127760159C>T	ENST00000368679.4	-	12	1528	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	ADAM12_ENST00000368676.4_Missense_Mutation_p.G407R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	407	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCCCCATTCCTTTCTCCAGG	0.542000													11	41					0	0	0.000673444	0	0
DSP	1832	broad.mit.edu	37	6	7580528	7580528	+	Missense_Mutation	SNP	G	G	A	rs141805096		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7580528G>A	ENST00000379802.3	+	23	4446	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1369	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTTTGAGACCGAGATCAACAT	0.463000													34	44					0	0	0.000692331	0	0
BROX	148362	broad.mit.edu	37	1	222904715	222904715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:222904715C>T	ENST00000340934.5	+	12	1412	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	BROX_ENST00000537020.1_Intron|BROX_ENST00000539697.1_Missense_Mutation_p.P304S	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	336	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCAAAAAATTCCAACAGAAGC	0.373000													20	229					0	0	0.000375601	0	0
GMPS	8833	broad.mit.edu	37	3	155629027	155629027	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155629027C>T	ENST00000496455.1	+	7	1180	c.845C>T	c.(844-846)tCt>tTt	p.S282F	GMPS_ENST00000295920.7_Missense_Mutation_p.S183F	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	282					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGCCAGTCTGTTGAAGAG	0.378000			T	MLL	AML								12	36					0	0	0.000978159	0	0
FBN2	2201	broad.mit.edu	37	5	127681084	127681084	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:127681084C>T	ENST00000508053.1	-	30	4156	c.3182G>A	c.(3181-3183)cGa>cAa	p.R1061Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R1061Q|FBN2_ENST00000508989.1_Missense_Mutation_p.R1028Q			P35556	FBN2_HUMAN	fibrillin 2	1061					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACATCCCCTCGGTTAGCAAA	0.607000													19	89					0	0	0.000586117	0	0
MYH7B	57644	broad.mit.edu	37	20	33575008	33575008	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33575008C>T	ENST00000262873.7	+	14	1283	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	355	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTATAAGATCGTGGGCGCCC	0.597000													31	135					0	0	0.00209593	0	0
RYR1	6261	broad.mit.edu	37	19	38987159	38987159	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38987159G>A	ENST00000355481.4	+	41	6905	c.6774G>A	c.(6772-6774)ctG>ctA	p.L2258L	RYR1_ENST00000360985.3_Silent_p.L2258L|RYR1_ENST00000359596.3_Silent_p.L2258L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2258	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTACCTGCTGGAGAACAGTG	0.632000													39	58					0	0	0.000781405	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353095	33353095	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:33353095G>A	ENST00000023064.4	-	6	824	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC7A9_ENST00000590341.1_Silent_p.F211F|SLC7A9_ENST00000587772.1_Silent_p.F211F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	211					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.F211F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGCGCCCTCGAAAGAATTAT	0.517000													27	55					0	0	0.000878237	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292583	154292583	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:154292583G>A	ENST00000285873.7	-	14	1946	c.1871C>T	c.(1870-1872)tCt>tTt	p.S624F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	624					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTCACTGGAGACTCAGGGCT	0.483000													10	42					0	0	0.00185496	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22349655	22349655	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:22349655G>A	ENST00000405243.1	-	4	527	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGCACTGGACGAAAGGACAGT	0.463000													12	51					0	0	0.000219431	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410652	37410652	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:37410652C>T	ENST00000535679.1	-	3	317	c.318G>A	c.(316-318)atG>atA	p.M106I	SULT6B1_ENST00000407963.1_Missense_Mutation_p.M68I|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.M68I			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	106						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GAAAGCCTTTCATTCTCTTAA	0.403000													13	76					0	0	0.00185496	0	0
NRG1	3084	broad.mit.edu	37	8	32617801	32617801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:32617801G>A	ENST00000338921.4	+	12	1686	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	NRG1_ENST00000287842.3_Missense_Mutation_p.S379N|NRG1_ENST00000523079.1_Missense_Mutation_p.S379N|NRG1_ENST00000356819.4_Missense_Mutation_p.S387N|NRG1_ENST00000287845.5_Missense_Mutation_p.S353N|NRG1_ENST00000287840.5_Missense_Mutation_p.S382N|NRG1_ENST00000521670.1_Missense_Mutation_p.S382N|NRG1_ENST00000405005.2_Missense_Mutation_p.S382N|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.S332N|NRG1_ENST00000539990.1_Missense_Mutation_p.S225N			Q02297	NRG1_HUMAN	neuregulin 1	382					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTAGGCACAGCAGCCCAACT	0.537000													8	130					0	0	0.000274275	0	0
PITPNC1	26207	broad.mit.edu	37	17	65628352	65628352	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:65628352G>A	ENST00000580974.1	+	6	1156	c.460G>A	c.(460-462)Gag>Aag	p.E154K	PITPNC1_ENST00000581322.1_Missense_Mutation_p.E154K|PITPNC1_ENST00000299954.9_Missense_Mutation_p.E154K|PITPNC1_ENST00000335257.6_Missense_Mutation_p.E154K	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	154					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAAAGAATCTGAGGTAAGCAA	0.408000													13	39					0	0	0.000219431	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394590	233394590	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:233394590C>T	ENST00000258229.8	-	5	1252	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	340						integral to membrane		p.D340N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGGGCAGGTCCCCCTGGCAG	0.572000													9	66					0	0	0.000274275	0	0
TMEM130	222865	broad.mit.edu	37	7	98460902	98460902	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:98460902G>A	ENST00000339375.4	-	2	381	c.207C>T	c.(205-207)ctC>ctT	p.L69L	TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000416379.2_Silent_p.L69L|TMEM130_ENST00000546258.1_Silent_p.L50L|TMEM130_ENST00000345589.4_Intron	NM_001134450.1|NM_152913.2	NP_001127922.1|NP_690877.1	Q8N3G9	TM130_HUMAN	transmembrane protein 130	69						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAGCGGTAGAGGTGGGCGT	0.667000													9	34					0	0	0.000442599	0	0
DDX28	55794	broad.mit.edu	37	16	68055780	68055780	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:68055780G>A	ENST00000332395.5	-	1	1990	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCTTCTGGAAGGACTGGAAGA	0.517000													18	40					0	0	0.00229938	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540977	133540977	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:133540977C>T	ENST00000409261.1	-	14	3780	c.3407G>A	c.(3406-3408)aGt>aAt	p.S1136N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1136N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1136							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCATGAGCACTTTGACAACC	0.502000													34	135					0	0	0.00170553	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003965	34003965	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:34003965C>T	ENST00000382491.3	-	28	4045	c.3921G>A	c.(3919-3921)agG>agA	p.R1307R	SYNJ1_ENST00000433931.2_Silent_p.R1393R|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.R1354R|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1354	Pro-rich.						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						ACTGAATCAACCTCTTTGGGT	0.448000													10	56					0	0	0.000673444	0	0
FREM2	341640	broad.mit.edu	37	13	39263937	39263937	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:39263937C>T	ENST00000280481.7	+	1	2672	c.2456C>T	c.(2455-2457)aCc>aTc	p.T819I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	819					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTACCTTTACCCTTTACTTG	0.562000													8	45					0	0	0.000157383	0	0
RBP3	5949	broad.mit.edu	37	10	48389378	48389378	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:48389378C>T	ENST00000224600.4	-	1	1613	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	500	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGGGCCGGCCTCAGGGCCCT	0.652000													7	35					0	0	0.000442599	0	0
TRPC5	7224	broad.mit.edu	37	X	111090344	111090344	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:111090344G>A	ENST00000262839.2	-	6	2616	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	566					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CGTCTTACGTGGAGAAGGCAT	0.403000													25	55					0	0	0.000878237	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725700	140725700	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140725700C>T	ENST00000253812.6	+	1	2100	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCGCGGTCTCCTGCGTCT	0.682000													24	102					0	0	0.00058488	0	0
RELN	5649	broad.mit.edu	37	7	103214584	103214584	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:103214584C>T	ENST00000428762.1	-	30	4625	c.4466G>A	c.(4465-4467)gGg>gAg	p.G1489E	RELN_ENST00000343529.5_Missense_Mutation_p.G1489E|RELN_ENST00000424685.2_Missense_Mutation_p.G1489E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTTTTCCCAGGGCCATT	0.473000													34	120					0	0	0.000680045	0	0
IGSF9	57549	broad.mit.edu	37	1	159901688	159901688	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159901688C>T	ENST00000368094.1	-	11	1473	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E410K	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	426	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATATTCTTCCTTGGGCCGC	0.577000													13	68					0	0	0.000219431	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504608	51504608	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51504608C>T	ENST00000396402.1	-	9	1325	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	CYP19A1_ENST00000260433.2_Missense_Mutation_p.G391E|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.G391E|CYP19A1_ENST00000559878.1_Missense_Mutation_p.G391E	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	391					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AATGTTTGTCCCCTTTTTCAC	0.423000													15	76					0	0	0.000422831	0	0
MED15	51586	broad.mit.edu	37	22	20929493	20929493	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:20929493C>T	ENST00000263205.7	+	9	1315	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000478831.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	416	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAGCTCCATCCCTTTGGGCAG	0.627000													22	44					0	0	0.00229938	0	0
TAS1R1	80835	broad.mit.edu	37	1	6615455	6615455	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6615455C>T	ENST00000333172.6	+	1	215	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	TAS1R1_ENST00000351136.3_Silent_p.L8L|TAS1R1_ENST00000328191.4_Silent_p.L8L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	8					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCTCGCCTGGTCGGCCT	0.617000													10	17					0	0	0.000673444	0	0
SAP130	79595	broad.mit.edu	37	2	128699646	128699646	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128699646C>T	ENST00000357702.5	-	21	3317	c.3186G>A	c.(3184-3186)ctG>ctA	p.L1062L	SAP130_ENST00000259235.3_Silent_p.L1027L|SAP130_ENST00000259234.6_Silent_p.L1035L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1027					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TAAGCAGCTTCAGGACACGGT	0.403000													25	79					0	0	0.000720815	0	0
GYS2	2998	broad.mit.edu	37	12	21757457	21757457	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:21757457G>A	ENST00000261195.2	-	1	324	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	24					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTCCACAGGAAGTTCTTCG	0.502000													9	29					0	0	0.000442599	0	0
NCAM1	4684	broad.mit.edu	37	11	113131041	113131041	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113131041C>T	ENST00000316851.7	+	15	2097	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	NCAM1_ENST00000533760.1_Silent_p.I581I|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	709	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCACAGCCATCCCAGGTATGG	0.522000													19	33					0	0	0.00188189	0	0
ASPG	374569	broad.mit.edu	37	14	104570766	104570766	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104570766C>T	ENST00000551177.1	+	8	971	c.879C>T	c.(877-879)atC>atT	p.I293I	ASPG_ENST00000455920.2_Silent_p.I293I|ASPG_ENST00000546892.2_Silent_p.I293I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	293	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCTGGTCATCGTCAACTGTA	0.652000													8	36					0	0	0.000442599	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185036	32185036	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32185036G>A	ENST00000375023.3	-	10	1770	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	544	EGF-like 13; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCGGGTGCCGGAGAATCCTG	0.612000													55	101					0	0	0.000781405	0	0
PKIA	5569	broad.mit.edu	37	8	79510749	79510749	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:79510749G>A	ENST00000396418.2	+	3	616	c.130G>A	c.(130-132)Ggt>Agt	p.G44S	PKIA_ENST00000518467.1_Missense_Mutation_p.G44S|PKIA_ENST00000352966.5_Missense_Mutation_p.G44S	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	44							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GAAATTAGCAGGTCTTGATAT	0.393000													17	57					0	0	0.00188189	0	0
BMP8B	656	broad.mit.edu	37	1	40230324	40230324	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:40230324G>T	ENST00000372827.3	-	4	1214	c.839C>A	c.(838-840)cCg>cAg	p.P280Q	BMP8B_ENST00000397360.2_Missense_Mutation_p.P305Q	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	280					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTGGCCTGCGGCAGCTCGTT	0.647000													5	94					0.00198382	0.0087276	0.00198382	1	0
COCH	1690	broad.mit.edu	37	14	31354198	31354198	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:31354198A>G	ENST00000382493.4	+	3	337	c.237A>G	c.(235-237)gcA>gcG	p.A79A	COCH_ENST00000396618.3_Intron|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000460581.2_Intron|COCH_ENST00000216361.4_Intron			O43405	COCH_HUMAN	cochlin	244	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CAGATGTGGCAGAAAGAATGA	0.383000													16	69					0	0	0.000422831	0	0
ZNF16	7564	broad.mit.edu	37	8	146157523	146157523	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:146157523G>A	ENST00000276816.4	-	4	836	c.650C>T	c.(649-651)aCc>aTc	p.T217I	ZNF16_ENST00000394909.2_Missense_Mutation_p.T217I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCTTGGAAGGTTTTCCCACA	0.488000													12	85					0	0	0.00136819	0	0
SI	6476	broad.mit.edu	37	3	164748504	164748504	+	Missense_Mutation	SNP	C	C	G	rs148434280	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164748504C>G	ENST00000264382.3	-	25	2950	c.2888G>C	c.(2887-2889)aGa>aCa	p.R963T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	963	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTACCGTTCTCCATACACA	0.299000										HNSCC(35;0.089)			9	33					0	0	0.000442599	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107218772	107218772	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:107218772G>A	ENST00000424969.2	-	0	490																											TGGTGAATCGGCCCTTCACGG	0.547000													30	132					0	0	0.0024448	0	0
SCTR	6344	broad.mit.edu	37	2	120236455	120236455	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120236455G>A	ENST00000019103.5	-	3	500	c.233C>T	c.(232-234)tCt>tTt	p.S78F	AC013275.2_ENST00000457436.1_RNA|AC013275.2_ENST00000413602.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	78					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGGCACAGAAGAGGGCCAGCA	0.607000													7	64					0	0	0.000157383	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	145013	145013	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145013C>G	ENST00000283426.6	+	4	865	c.815C>G	c.(814-816)tCc>tGc	p.S272C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	272					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGCCGTCTCCCAGGCCCTC	0.622000													9	39					0	0	0.000673444	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874990	80874990	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:80874990C>T	ENST00000466387.1	+	22	3435	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S904F|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S952F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S904F|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S583F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S938F|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S859F			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	952					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAATGGATTCCTTCTAGGAC	0.373000													19	48					0	0	0.00074312	0	0
C3AR1	719	broad.mit.edu	37	12	8212126	8212126	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:8212126T>A	ENST00000307637.4	-	2	859	c.656A>T	c.(655-657)aAt>aTt	p.N219I		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	219					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGATGATCATTTGTTTGGAA	0.428000													31	55					0	0	0.00178596	0	0
PIGX	54965	broad.mit.edu	37	3	196449298	196449298	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:196449298C>T	ENST00000314118.4	+	3	348	c.66C>T	c.(64-66)atC>atT	p.I22I	PIGX_ENST00000421265.1_Silent_p.I22I|PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	63					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACCTTTTAATCAAAGTGAAGT	0.373000													28	96					0	0	0.00127121	0	0
RIF1	55183	broad.mit.edu	37	2	152321487	152321487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152321487C>T	ENST00000243326.4	+	29	5936	c.5453C>T	c.(5452-5454)tCa>tTa	p.S1818L	RIF1_ENST00000430328.2_Missense_Mutation_p.S1818L|RIF1_ENST00000444746.2_Missense_Mutation_p.S1818L|RIF1_ENST00000453091.2_Missense_Mutation_p.S1818L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1818L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1818					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAACCAAATCAAAAGAAAAC	0.313000													37	89					0	0	0.000953801	0	0
DOCK2	1794	broad.mit.edu	37	5	169127124	169127124	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:169127124C>T	ENST00000256935.8	+	13	1319	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	413					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGGATTCCCAGAGATCA	0.527000													13	74					0	0	0.000566183	0	0
MARCH11	441061	broad.mit.edu	37	5	16067614	16067614	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:16067614G>A	ENST00000332432.8	-	4	1374	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	392						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACCTCCCCCGAGCTGTTATC	0.463000													27	118					0	0	0.000491102	0	0
DEFA6	1671	broad.mit.edu	37	8	6782415	6782415	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:6782415C>T	ENST00000297436.2	-	2	268	c.228G>A	c.(226-228)agG>agA	p.R76R		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	76					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATAACAGGACCTTCTGCAAT	0.473000													20	54					0	0	0.00152264	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564661	179564661	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:179564661G>A	ENST00000393371.2	-	2	525	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R77W			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	77	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCTCCCGGGGCTCGATG	0.652000													12	38					0	0	0.000422831	0	0
SYNE1	23345	broad.mit.edu	37	6	152737898	152737898	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:152737898C>T	ENST00000367255.5	-	41	6275	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1892K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1899K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1929K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1899K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1892					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTTGCTTCCACTGTTTGC	0.498000										HNSCC(10;0.0054)			10	26					0	0	0.00185496	0	0
GPR152	390212	broad.mit.edu	37	11	67219581	67219581	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:67219581G>A	ENST00000312457.2	-	1	619	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	205						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGCAGGAGGAAAGGCAGGA	0.677000													25	28					0	0	0.00106085	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514563	149514563	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149514563G>A	ENST00000261799.4	-	4	850	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	127					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTAGGGAGGAAGCCCACGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								8	52					0	0	0.000274275	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887590	12887590	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12887590C>T	ENST00000535591.1	-	3	462	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	89										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTTTGTTCCTCTTGGCATTGA	0.483000													82	292					0	0	0.000781405	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128617	3128617	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3128617T>C	ENST00000380266.3	-	2	1421	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	367					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTGATCCACGTGAGTGAAACG	0.438000													17	83					0	0	0.00152264	0	0
SELM	140606	broad.mit.edu	37	22	31503396	31503396	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:31503396G>A	ENST00000402395.1	-	3	513	c.96C>T	c.(94-96)aaC>aaT	p.N32N	RP3-412A9.11_ENST00000400299.2_Silent_p.N32N|RP3-412A9.11_ENST00000465536.1_5'UTR																							CGCTCAGACGGTTCCAGTCCG	0.706000													6	11					0	0	0.000274275	0	0
DSG1	1828	broad.mit.edu	37	18	28926140	28926140	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28926140C>T	ENST00000257192.4	+	14	2291	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.F52F	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	693					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATATGAATTTCATGGAAAGCT	0.418000													10	24					0	0	0.00185496	0	0
MBL2	4153	broad.mit.edu	37	10	54531277	54531277	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:54531277G>A	ENST00000373968.3	-	1	183	c.119C>T	c.(118-120)tCt>tTt	p.S40F		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	40	Cys-rich.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GATGCCTGGAGAGCTACAGGC	0.552000													12	33					0	0	0.000219431	0	0
KCNA1	3736	broad.mit.edu	37	12	5021025	5021025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:5021025G>A	ENST00000382545.3	+	2	1588	c.481G>A	c.(481-483)Gag>Aag	p.E161K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	161					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAGTACCCCGAGAGCTCGGG	0.627000													27	60					0	0	0.0024448	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398107	23398107	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:23398107C>T	ENST00000379361.4	+	2	1611	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	251			P -> L.		cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAAAATGTACCCTTACACGTC	0.498000													40	49					0	0	0.00170553	0	0
CD300C	10871	broad.mit.edu	37	17	72540860	72540860	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:72540860G>A	ENST00000330793.1	-	2	648	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	96	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCTCCAGGGTCACTGTGA	0.547000													31	34					0	0	0.001512	0	0
DAPK2	23604	broad.mit.edu	37	15	64231517	64231517	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:64231517T>G	ENST00000261891.3	-	4	502	c.497A>C	c.(496-498)cAc>cCc	p.H166P	DAPK2_ENST00000558069.1_Missense_Mutation_p.H166P|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.H166P			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	166	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CAGCTTGATGTGTGGAATGGG	0.363000													14	85					0	0	0.000566183	0	0
LSG1	55341	broad.mit.edu	37	3	194373548	194373548	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:194373548G>A	ENST00000265245.5	-	8	1397	c.1083C>T	c.(1081-1083)agC>agT	p.S361S		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	361					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATACCAGATGGCTAAAATTGT	0.502000													23	126					0	0	0.000375601	0	0
GPD2	2820	broad.mit.edu	37	2	157439382	157439382	+	Silent	SNP	C	C	T	rs144944634		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:157439382C>T	ENST00000310454.6	+	17	2508	c.2136C>T	c.(2134-2136)ctC>ctT	p.L712L	GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409125.4_Silent_p.L485L|GPD2_ENST00000438166.2_Silent_p.L712L|GPD2_ENST00000409674.1_Silent_p.L712L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	712					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AAGAGAACCTCGACAGAAGAG	0.433000													10	25					0	0	0.000673444	0	0
MYLK2	85366	broad.mit.edu	37	20	30411356	30411356	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:30411356C>T	ENST00000375994.2	+	4	1122	c.849C>T	c.(847-849)ttC>ttT	p.F283F	MYLK2_ENST00000375985.4_Silent_p.F283F			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	283					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGTGAATTCAGTATGAACT	0.612000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	113					0	0	0.000814825	0	0
NWD1	284434	broad.mit.edu	37	19	16902209	16902209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16902209G>A	ENST00000524140.2	+	14	3407	c.2989G>A	c.(2989-2991)Gga>Aga	p.G997R	NWD1_ENST00000379808.3_Missense_Mutation_p.G997R|NWD1_ENST00000523826.1_Missense_Mutation_p.G791R|NWD1_ENST00000549814.1_Missense_Mutation_p.G997R|NWD1_ENST00000552788.1_Missense_Mutation_p.G997R|NWD1_ENST00000339803.6_Missense_Mutation_p.G862R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	997							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATATCCTGGGAGATGCCTC	0.527000													38	107					0	0	0.000509022	0	0
TTN	7273	broad.mit.edu	37	2	179427823	179427823	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179427823G>A	ENST00000589042.1	-	326	83260	c.83036C>T	c.(83035-83037)gCt>gTt	p.A27679V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A18614V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A25111V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18806V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18739V|TTN_ENST00000591111.1_Missense_Mutation_p.A26038V|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26038	Fibronectin type-III 101.						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)			TCTGAGATCAGCATCGAGTTC	0.468000													31	120					0	0	0.00209593	0	0
INADL	10207	broad.mit.edu	37	1	62340940	62340940	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:62340940C>T	ENST00000371158.2	+	21	2975	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	INADL_ENST00000316485.6_Missense_Mutation_p.S954F	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	954					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCATGGAGTCCCTACCATCT	0.343000													24	66					0	0	0.000878237	0	0
NUAK1	9891	broad.mit.edu	37	12	106500239	106500239	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:106500239C>T	ENST00000261402.2	-	2	1684	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	102	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTCAATCTCTCGTCTGATGTG	0.343000													16	20					0	0	0.000308642	0	0
CRB1	23418	broad.mit.edu	37	1	197390134	197390134	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197390134C>T	ENST00000367400.3	+	6	1311	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I392I|CRB1_ENST00000535699.1_Silent_p.I323I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.I280I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Silent_p.I91I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	392	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAACAGGAATCCACTGCGAAG	0.348000													19	70					0	0	0.00152264	0	0
SLC30A4	7782	broad.mit.edu	37	15	45783027	45783027	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45783027G>A	ENST00000261867.4	-	4	905	c.591C>T	c.(589-591)ttC>ttT	p.F197F	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	197					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CATATAAGAGGAATCCCATAA	0.353000													21	70					0	0	0.000375601	0	0
PDE11A	50940	broad.mit.edu	37	2	178879164	178879164	+	Silent	SNP	G	G	A	rs144284382		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:178879164G>A	ENST00000286063.5	-	2	1253	c.936C>T	c.(934-936)atC>atT	p.I312I	PDE11A_ENST00000358450.4_Silent_p.I62I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	312	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I62I(1)|p.I312I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTAGCTTGTCGATTTCATCAT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial				11	32					0	0	0.000978159	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509253	110509253	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110509253G>A	ENST00000378402.5	+	64	10537	c.10433G>A	c.(10432-10434)gGa>gAa	p.G3478E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3478					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTATACAAGGATTTACCATT	0.338000										HNSCC(38;0.096)			17	79					0	0	0.00074312	0	0
C1orf116	79098	broad.mit.edu	37	1	207198353	207198353	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207198353C>T	ENST00000359470.5	-	3	411	c.162G>A	c.(160-162)ctG>ctA	p.L54L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	54						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGTCTCCTCCAGGAAGAGCA	0.622000													13	31					0	0	0.000566183	0	0
ROBO1	6091	broad.mit.edu	37	3	78683143	78683143	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:78683143T>C	ENST00000436010.2	-	22	4303	c.3306A>G	c.(3304-3306)tcA>tcG	p.S1102S	ROBO1_ENST00000464233.1_Silent_p.S1141S|ROBO1_ENST00000467549.1_Silent_p.S1041S|ROBO1_ENST00000495273.1_Silent_p.S1096S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1141					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGTCGTATGATTGGTTGT	0.398000													24	83					0	0	0.00178596	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182344	47182344	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:47182344C>T	ENST00000447411.1	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	SLC38A4_ENST00000266579.4_Silent_p.G59G	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	59					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCTTCTTTTTCCCCAAAAATC	0.393000													15	48					0	0	0.000566183	0	0
OR10G9	219870	broad.mit.edu	37	11	123894524	123894524	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123894524G>A	ENST00000375024.1	+	1	805	c.805G>A	c.(805-807)Gga>Aga	p.G269R		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CGTCGTGGATGGAGTTGTGGC	0.502000													31	70					0	0	0.000692331	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210914	35210914	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:35210914G>A	ENST00000274938.7	+	15	1810	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D620N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	604					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGCAGGCCTTGATTATGAGCT	0.637000													37	45					0	0	0.00195071	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756286	94756286	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:94756286C>T	ENST00000554723.1	-	2	1183	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SERPINA10_ENST00000393096.1_Silent_p.G215G|SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G215G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388000													10	59					0	0	0.000442599	0	0
TNRC6B	23112	broad.mit.edu	37	22	40717151	40717151	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40717151C>T	ENST00000454349.2	+	22	5243	c.5032C>T	c.(5032-5034)Cat>Tat	p.H1678Y	TNRC6B_ENST00000402203.1_Missense_Mutation_p.H874Y|TNRC6B_ENST00000301923.9_Missense_Mutation_p.H874Y|TNRC6B_ENST00000335727.8_Missense_Mutation_p.H1568Y	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1678	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTGACATTCCATCTGAATCT	0.517000													14	43					0	0	0.00185496	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202111	9202111	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:9202111G>A	ENST00000382496.5	-	9	1553	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	296	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTCAGGCAGGAAGAAAGTAC	0.448000													7	28					0	0	0.00198382	0	0
ADAM7	8756	broad.mit.edu	37	8	24349524	24349524	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:24349524G>A	ENST00000175238.6	+	14	1548	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	ADAM7_ENST00000380789.1_Missense_Mutation_p.G489R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G261R|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	489	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGGGTCAATGGATTTCCTTG	0.483000													35	70					0	0	0.00195071	0	0
GOLGA5	9950	broad.mit.edu	37	14	93301978	93301978	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:93301978C>T	ENST00000163416.2	+	11	2276	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R674C	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	674					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CGGAAAAGTTCGCAAAGCTGC	0.383000			T	RET	papillary thyroid								7	25					0	0	0.00198382	0	0
COL6A2	1292	broad.mit.edu	37	21	47549387	47549387	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47549387C>T	ENST00000357838.4	+	28	2821	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Silent_p.T913T|COL6A2_ENST00000310645.5_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCCGAGACCGCGCTGGCCC	0.682000													5	35					0	0	0.00116845	0	0
ALPK3	57538	broad.mit.edu	37	15	85406076	85406076	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:85406076C>T	ENST00000258888.5	+	10	5113	c.4946C>T	c.(4945-4947)tCc>tTc	p.S1649F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1649	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCAAGGTGTCCAGCCTGCTT	0.572000													12	55					0	0	0.00136819	0	0
ACSL5	51703	broad.mit.edu	37	10	114158669	114158669	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:114158669G>A	ENST00000393081.1	+	3	474	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ACSL5_ENST00000356116.1_Missense_Mutation_p.R112Q|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.R56Q|ACSL5_ENST00000433418.1_Missense_Mutation_p.R56Q|ACSL5_ENST00000354273.4_Missense_Mutation_p.R56Q	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	56					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGAGGAGCACGGAAGGGGGTT	0.443000													8	70					0	0	0.000442599	0	0
DSCAM	1826	broad.mit.edu	37	21	41725476	41725476	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41725476G>A	ENST00000400454.1	-	5	1327	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	284	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGAGGGGCGAATGTTCTCA	0.542000													13	59					0	0	0.00185496	0	0
TRHDE	29953	broad.mit.edu	37	12	72969126	72969126	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:72969126G>A	ENST00000261180.4	+	11	2184	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	696					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGACCTAAGGAACTGGAGAT	0.363000													12	28					0	0	0.00185496	0	0
COL5A2	1290	broad.mit.edu	37	2	189943285	189943285	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189943285C>T	ENST00000374866.3	-	16	1290	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	339					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTGGCATTCCCCTCGGACC	0.428000													49	148					0	0	0.000781405	0	0
CRHBP	1393	broad.mit.edu	37	5	76251529	76251529	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:76251529C>T	ENST00000274368.4	+	4	807	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	CRHBP_ENST00000506501.1_Missense_Mutation_p.H129Y	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	129					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTCCCAGGATCATCCTCTCCC	0.463000													70	345					0	0	0.000781405	0	0
SPRY4	81848	broad.mit.edu	37	5	141694238	141694238	+	Missense_Mutation	SNP	G	G	A	rs138416722		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:141694238G>A	ENST00000344120.4	-	3	691	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S	SPRY4_ENST00000434127.2_Missense_Mutation_p.P146S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	146	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACCGCCGGGCCCTTGAGG	0.647000									Testicular Cancer, Familial Clustering of				21	83					0	0	0.00229938	0	0
LAMA3	3909	broad.mit.edu	37	18	21355756	21355756	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:21355756C>T	ENST00000313654.9	+	10	1515	c.1273_splice	c.e10-1	p.P425_splice	LAMA3_ENST00000399516.3_Splice_Site_p.P425_splice	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	425	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCTCTTAGCCTGCAGCTGT	0.493000													10	22					0	0	0.00185496	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877986	4877986	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:4877986C>T	ENST00000298375.7	+	4	515	c.444C>T	c.(442-444)ttC>ttT	p.F148F	AKR1E2_ENST00000532248.1_Silent_p.F148F|AKR1E2_ENST00000334019.4_Silent_p.F148F|AKR1E2_ENST00000345253.5_Silent_p.F148F|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	148						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ACACGGACTTCCTGGACACGT	0.567000													24	47					0	0	0.00127121	0	0
GPR98	84059	broad.mit.edu	37	5	90020657	90020657	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90020657G>A	ENST00000405460.2	+	46	9853	c.9757G>A	c.(9757-9759)Gat>Aat	p.D3253N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3253					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGGGGAATGGATGTTGTGTT	0.294000													39	187					0	0	0.000781405	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243437849	243437849	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:243437849C>T	ENST00000366541.3	+	4	429	c.311C>T	c.(310-312)tCa>tTa	p.S104L	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.S104L|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.S104L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	104					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TCATAGAGGTCATTAGAACAT	0.294000													13	108					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179546108	179546108	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179546108G>A	ENST00000589042.1	-	137	33466	c.33242C>T	c.(33241-33243)cCc>cTc	p.P11081L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9837L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10764L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10764	Glu-rich.|Pro-rich.						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)			TGTACCTTTGGGTGGTGGAGG	0.368000													8	36					0	0	0.000274275	0	0
NCLN	56926	broad.mit.edu	37	19	3192620	3192620	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3192620C>T	ENST00000246117.4	+	2	768	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	NCLN_ENST00000590671.1_Missense_Mutation_p.P39S	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	113					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCCTGCCCAGGGCCAT	0.711000													14	41					0	0	0.000422831	0	0
CCR3	1232	broad.mit.edu	37	3	46306740	46306740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46306740G>A	ENST00000357422.2	+	4	634	c.91G>A	c.(91-93)Gca>Aca	p.A31T	CCR3_ENST00000395940.2_Missense_Mutation_p.A31T|CCR3_ENST00000395942.2_Missense_Mutation_p.A31T|CCR3_ENST00000541018.1_Missense_Mutation_p.A31T|CCR3_ENST00000545097.1_Missense_Mutation_p.A52T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	31					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGATACCAGAGCACTGATGGC	0.502000													9	20					0	0	0.000274275	0	0
PXDNL	137902	broad.mit.edu	37	8	52321427	52321427	+	Silent	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52321427G>C	ENST00000356297.4	-	17	2857	c.2757C>G	c.(2755-2757)ctC>ctG	p.L919L	PXDNL_ENST00000543296.1_Silent_p.L919L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	919					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L919L(1)|p.L118L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGTCTTCAGGAGACCCCGAG	0.607000													4	22					0	0	0.00024832	0	0
CACNA1E	777	broad.mit.edu	37	1	181754860	181754860	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:181754860C>T	ENST00000526775.1	+	42	5799	c.5634C>T	c.(5632-5634)ccC>ccT	p.P1878P	CACNA1E_ENST00000360108.3_Silent_p.P1878P|CACNA1E_ENST00000367567.4_Silent_p.P1504P|CACNA1E_ENST00000357570.5_Silent_p.P1848P|CACNA1E_ENST00000367573.2_Silent_p.P1897P|CACNA1E_ENST00000367570.1_Silent_p.P1897P|CACNA1E_ENST00000358338.5_Silent_p.P1829P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1897					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAATGCCCCCATGTTCCAGC	0.478000													58	137					0	0	0.000781405	0	0
FRS3	10817	broad.mit.edu	37	6	41739062	41739062	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:41739062G>A	ENST00000373018.3	-	7	1025	c.774C>T	c.(772-774)ggC>ggT	p.G258G	FRS3_ENST00000259748.2_Silent_p.G258G	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	258					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGACAGAGGCCCTGGCACT	0.612000													12	30					0	0	0.000978159	0	0
ANPEP	290	broad.mit.edu	37	15	90336292	90336292	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90336292C>T	ENST00000300060.6	-	16	2536	c.2223G>A	c.(2221-2223)agG>agA	p.R741R		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	741	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGGGATCTCCCTCCAGTTGT	0.488000													19	164					0	0	0.00047179	0	0
ZFR2	23217	broad.mit.edu	37	19	3831710	3831710	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3831710G>A	ENST00000262961.4	-	4	556	c.546C>T	c.(544-546)atC>atT	p.I182I	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	182						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGAGGTCACGATGGAAGCTG	0.662000													11	23					0	0	0.00185496	0	0
LGR5	8549	broad.mit.edu	37	12	71960479	71960479	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:71960479C>T	ENST00000266674.5	+	10	1308	c.998_splice	c.e10+1	p.L333_splice	LGR5_ENST00000536515.1_Splice_Site_p.L261_splice|LGR5_ENST00000540815.2_Splice_Site_p.L309_splice			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	333						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGGAGAGTCTGTAAGTACT	0.398000													108	191					0	0	0.000781405	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539493	27539493	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:27539493G>A	ENST00000574842.1	+	0	762																											CTCACTAATGGAAAGTTCACG	0.567000													5	40					0	0	0.000602214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571777	44571777	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44571777C>T	ENST00000289547.4	-	9	2504	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	NPC1L1_ENST00000546276.1_Missense_Mutation_p.E817K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.E817K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	817					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGGGCAGCTCCTGGGGCTTG	0.642000													20	98					0	0	0.00229938	0	0
CFHR5	81494	broad.mit.edu	37	1	196977645	196977645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196977645G>A	ENST00000367414.5	+	10	1670	c.1614G>A	c.(1612-1614)atG>atA	p.M538I	CFHR5_ENST00000256785.4_Missense_Mutation_p.M514I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	514	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAGAAAACATGAACAAAAATA	0.299000													15	23					0	0	0.000422831	0	0
GLIS3	169792	broad.mit.edu	37	9	3856122	3856122	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:3856122G>A	ENST00000324333.10	-	8	2088	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	GLIS3_ENST00000381971.3_Missense_Mutation_p.S787L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	632					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGCAGTATTGAAGAAGGAGC	0.463000													22	50					0	0	0.00188189	0	0
STAG3	10734	broad.mit.edu	37	7	99800133	99800133	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:99800133C>T	ENST00000426455.1	+	25	3027	c.2620C>T	c.(2620-2622)Cta>Tta	p.L874L	STAG3_ENST00000394018.2_Silent_p.L816L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L874L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	874					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCGCCTCCTAGCCGGGTT	0.522000													66	140					0	0	0.000781405	0	0
CXXC5	51523	broad.mit.edu	37	5	139060648	139060648	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:139060648C>T	ENST00000302517.3	+	2	1254	c.540C>T	c.(538-540)ctC>ctT	p.L180L	CXXC5_ENST00000511048.1_Silent_p.L180L|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	180					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCATCTCCCGCTGATGA	0.662000													14	35					0	0	0.000422831	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708407	29708407	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29708407C>T	ENST00000406549.3	+	6	1436	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	656					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGCCGCCCCTCCGGACCC	0.672000													16	26					0	0	0.000308642	0	0
NCEH1	57552	broad.mit.edu	37	3	172365750	172365750	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:172365750G>A	ENST00000475381.1	-	2	526	c.293C>T	c.(292-294)cCt>cTt	p.P98L	NCEH1_ENST00000273512.3_Missense_Mutation_p.P130L|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.P130L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	98					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGGCTTCGGAGGGCCTTCAAA	0.527000													7	54					0	0	0.00198382	0	0
CCDC89	220388	broad.mit.edu	37	11	85397055	85397055	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:85397055T>A	ENST00000316398.3	-	1	265	c.119A>T	c.(118-120)aAg>aTg	p.K40M		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	40						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCCAGTTCCTTAAACTCCGT	0.552000													22	31					0	0	0.000586117	0	0
POFUT1	23509	broad.mit.edu	37	20	30816069	30816069	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:30816069T>G	ENST00000375749.3	+	5	608	c.546T>G	c.(544-546)ttT>ttG	p.F182L	POFUT1_ENST00000539210.1_5'UTR|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	182					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTCTAGATTTTCTCCAAAGG	0.572000													11	32					0	0	0.000673444	0	0
MMP27	64066	broad.mit.edu	37	11	102575382	102575382	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102575382C>T	ENST00000260229.4	-	2	318	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	76					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GTCCAGTTTTCCAGTCACTGT	0.453000													8	22					0	0	0.000157383	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704966	23704966	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:23704966G>A	ENST00000397312.2	-	4	711	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ELAVL2_ENST00000223951.6_Missense_Mutation_p.S146L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S146L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S175L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S146L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	146	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCCATATTGTGAAAAAAGCTG	0.448000													13	74					0	0	0.000422831	0	0
SNTG2	54221	broad.mit.edu	37	2	1093908	1093908	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1093908G>A	ENST00000308624.5	+	3	366	c.237G>A	c.(235-237)caG>caA	p.Q79Q	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	79	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCCGCAGACAGCCAGTTGGCG	0.368000													54	355					0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57769282	57769282	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:57769282G>A	ENST00000371030.2	+	1	3208	c.3208G>A	c.(3208-3210)Ggt>Agt	p.G1070S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1070						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACATGGAGGGTGACAGCCA	0.622000													12	18					0	0	0.00185496	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626583	80626583	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:80626583G>A	ENST00000369816.4	-	6	987	c.687C>T	c.(685-687)acC>acT	p.T229T		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	229					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTGCCCAATGGTCACATGGA	0.403000													17	25					0	0	0.00074312	0	0
PRKG2	5593	broad.mit.edu	37	4	82125861	82125861	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:82125861G>A	ENST00000395578.1	-	2	457	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PRKG2_ENST00000418486.2_Missense_Mutation_p.S114F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S114F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	114					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCTATGGAGAGAGACCAATCC	0.547000													18	102					0	0	0.000566183	0	0
TENM4	26011	broad.mit.edu	37	11	78381204	78381204	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:78381204G>A	ENST00000278550.7	-	32	6648	c.6186C>T	c.(6184-6186)ccC>ccT	p.P2062P		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGTCAATCAGGGGCCCAATCT	0.542000													6	21					0	0	0.000274275	0	0
OR5K2	402135	broad.mit.edu	37	3	98217179	98217179	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:98217179C>T	ENST00000427338.1	+	1	732	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATATCTTATCTCTATATTCT	0.368000													23	30					0	0	0.00047179	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937063	178937063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:178937063C>T	ENST00000263967.3	+	11	1901	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	582	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAGTAGCCCAGGTAAATGT	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	23					0	0	0.000157383	0	0
DCC	1630	broad.mit.edu	37	18	50918165	50918165	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:50918165G>A	ENST00000442544.2	+	17	3212	c.2596G>A	c.(2596-2598)Gac>Aac	p.D866N	DCC_ENST00000581580.1_Missense_Mutation_p.D501N|DCC_ENST00000412726.1_Missense_Mutation_p.D694N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	866	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCTGGGCAGACAACTCTGT	0.537000													7	76					0	0	0.000157383	0	0
FAM118A	55007	broad.mit.edu	37	22	45728384	45728384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:45728384C>T	ENST00000216214.3	+	7	1564	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	FAM118A_ENST00000441876.2_Nonsense_Mutation_p.Q244*|FAM118A_ENST00000405548.3_Nonsense_Mutation_p.Q62*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	244						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAGATATTCCAGGCCCTCTT	0.468000													59	160					0	0	0.000781405	0	0
ZNF106	64397	broad.mit.edu	37	15	42740573	42740573	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:42740573G>A	ENST00000263805.4	-	3	3089	c.2763C>T	c.(2761-2763)ctC>ctT	p.L921L	ZNF106_ENST00000565380.1_Silent_p.L149L|ZNF106_ENST00000565611.1_Silent_p.L106L	NM_022473.1	NP_071918.1			zinc finger protein 106																		CACCTGTTCGGAGGGAGGCAG	0.483000													16	94					0	0	0.000958276	0	0
WNK4	65266	broad.mit.edu	37	17	40939873	40939873	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40939873G>A	ENST00000246914.5	+	8	1840	c.1819G>A	c.(1819-1821)Ggg>Agg	p.G607R	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCCCCTGGGGGGGTGCCATC	0.647000													20	24					0	0	0.00188189	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250624	18250624	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:18250624G>A	ENST00000377369.2	+	3	649	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	SLC39A12_ENST00000377374.4_Missense_Mutation_p.E126K|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E126K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	126					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TATTCATCAGGAAGAGATCTG	0.383000													15	68					0	0	0.00074312	0	0
SLIT3	6586	broad.mit.edu	37	5	168098445	168098445	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168098445C>T	ENST00000519560.1	-	34	4304	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	SLIT3_ENST00000332966.8_Silent_p.T1302T|SLIT3_ENST00000404867.3_Silent_p.T1295T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1295	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCCGGTCCGTGCCCTGGC	0.667000													4	18					0	0	0.000602214	0	0
PANK1	53354	broad.mit.edu	37	10	91371750	91371750	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:91371750G>A	ENST00000307534.4	-	2	914	c.759C>T	c.(757-759)ttC>ttT	p.F253F	PANK1_ENST00000322191.6_Silent_p.F28F|PANK1_ENST00000371774.2_Silent_p.F55F|PANK1_ENST00000342512.3_Silent_p.F28F	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	253					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCTTCGGCTCGAAATACACCA	0.458000													19	77					0	0	0.00188189	0	0
HECW2	57520	broad.mit.edu	37	2	197085603	197085603	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197085603C>T	ENST00000260983.2	-	25	4391	c.4209G>A	c.(4207-4209)aaG>aaA	p.K1403K	HECW2_ENST00000409111.1_Silent_p.K1047K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1403	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGATGTACTCCTTCTTGTTCT	0.423000													34	92					0	0	0.000814825	0	0
CCDC141	285025	broad.mit.edu	37	2	179718304	179718304	+	Silent	SNP	T	T	C	rs76657151		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179718304T>C	ENST00000420890.2	-	20	3225	c.3108A>G	c.(3106-3108)ggA>ggG	p.G1036G	CCDC141_ENST00000295723.5_Silent_p.G461G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	461							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGAATATTTTCCAACTCTTA	0.388000													25	81					0	0	0.00178596	0	0
PDE7A	5150	broad.mit.edu	37	8	66636582	66636582	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:66636582G>A	ENST00000401827.3	-	11	1513	c.1070C>T	c.(1069-1071)gCt>gTt	p.A357V	PDE7A_ENST00000379419.4_Missense_Mutation_p.A331V|PDE7A_ENST00000396642.3_Missense_Mutation_p.A357V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	357	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	ACATTTCAAAGCCATCTAGCA	0.353000													10	27					0	0	0.00136819	0	0
ACSL6	23305	broad.mit.edu	37	5	131303701	131303701	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:131303701G>A	ENST00000379264.2	-	16	1636	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	ACSL6_ENST00000379255.1_Missense_Mutation_p.P410S|ACSL6_ENST00000379240.1_Missense_Mutation_p.P485S|ACSL6_ENST00000296869.4_Missense_Mutation_p.P510S|ACSL6_ENST00000357096.1_Missense_Mutation_p.P410S|ACSL6_ENST00000379244.1_Missense_Mutation_p.P485S|ACSL6_ENST00000431707.1_Missense_Mutation_p.P465S|ACSL6_ENST00000543479.1_Missense_Mutation_p.P485S|ACSL6_ENST00000379272.2_Missense_Mutation_p.P500S|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.P485S|ACSL6_ENST00000544770.1_Missense_Mutation_p.P394S|ACSL6_ENST00000379246.1_Missense_Mutation_p.P496S	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	485					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATTGCAGGGAAGTGGCGCC	0.488000													13	59					0	0	0.00136819	0	0
MKKS	8195	broad.mit.edu	37	20	10393417	10393417	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10393417G>A	ENST00000347364.2	-	3	1508	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	249	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGTGTCTCCGGATAAAGTTGT	0.438000													18	61					0	0	0.00121646	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266132	3266132	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:3266132C>T	ENST00000576468.1	+	0	418																											ACACCATCCCCCACATCTTCT	0.537000													8	17					0	0	0.000442599	0	0
PSD2	84249	broad.mit.edu	37	5	139216584	139216584	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:139216584G>A	ENST00000274710.3	+	10	1797	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	531	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGCAAGAGGAGTGGGTGT	0.642000													21	47					0	0	0.00229938	0	0
RIC3	79608	broad.mit.edu	37	11	8132361	8132361	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:8132361C>T	ENST00000396677.2	-	3	507	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	RIC3_ENST00000335425.7_Missense_Mutation_p.E150K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E332K|RIC3_ENST00000539720.1_Missense_Mutation_p.E283K|RIC3_ENST00000343202.4_Missense_Mutation_p.E331K|RIC3_ENST00000425599.2_Missense_Mutation_p.E251K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	332						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGTGGTTTCCTCTTGCTCA	0.483000													31	82					0	0	0.000491102	0	0
SI	6476	broad.mit.edu	37	3	164724631	164724631	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164724631C>T	ENST00000264382.3	-	37	4441	c.4379G>A	c.(4378-4380)gGa>gAa	p.G1460E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1460	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTGTGACCATCCATAGAGATT	0.343000										HNSCC(35;0.089)			12	54					0	0	0.00136819	0	0
GPR135	64582	broad.mit.edu	37	14	59930726	59930726	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:59930726G>A	ENST00000395116.1	-	1	1334	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	407						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTCCTAGTCCGGTAGCCCTCC	0.637000													10	34					0	0	0.000673444	0	0
EPHA6	285220	broad.mit.edu	37	3	97356793	97356793	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97356793C>T	ENST00000389672.5	+	14	2689	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F	EPHA6_ENST00000502694.1_Missense_Mutation_p.S276F|EPHA6_ENST00000514100.1_Missense_Mutation_p.S276F|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	789	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGTATCTTTCTGATATGGGT	0.448000													32	136					0	0	0.0024448	0	0
MAK	4117	broad.mit.edu	37	6	10775656	10775656	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:10775656C>T	ENST00000313243.2	-	12	1884	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	MAK_ENST00000354489.2_Missense_Mutation_p.G501E|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.G501E|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	501					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TATTTCCTTTCCACTGGCTAT	0.448000													38	87					0	0	0.00170553	0	0
HCN4	10021	broad.mit.edu	37	15	73615572	73615572	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:73615572G>A	ENST00000261917.3	-	8	3855	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	954	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTGCTCCGGGAGTCCCAGGC	0.741000													5	20					0	0	0.000602214	0	0
PTPRK	5796	broad.mit.edu	37	6	128643321	128643321	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:128643321G>A	ENST00000368227.3	-	3	724	c.358C>T	c.(358-360)Cct>Tct	p.P120S	PTPRK_ENST00000368215.3_Missense_Mutation_p.P120S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P120S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P120S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P120S|PTPRK_ENST00000525459.1_Missense_Mutation_p.P120S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P120S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P120S|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	120	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGTGCCAGGATTCAGTCCT	0.443000													28	46					0	0	0.001512	0	0
KIF26A	26153	broad.mit.edu	37	14	104641894	104641894	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104641894G>A	ENST00000315264.7	+	11	2730	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q	KIF26A_ENST00000423312.2_Silent_p.Q923Q			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	923					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGGGTGACCAGAGAGAGGACA	0.672000													4	25					0	0	0.00116845	0	0
CAPN5	726	broad.mit.edu	37	11	76825396	76825396	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76825396C>T	ENST00000278559.3	+	5	804	c.615C>T	c.(613-615)gcC>gcT	p.A205A	CAPN5_ENST00000456580.2_Silent_p.A245A|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.A205A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	205	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGACTTTGCCAACGATGAGA	0.577000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	95	186					0	0	0.000781405	0	0
DOCK2	1794	broad.mit.edu	37	5	169122834	169122834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:169122834G>A	ENST00000256935.8	+	10	951	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	291					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCAACAGGGATAAAATTTA	0.448000													9	53					0	0	0.000673444	0	0
POTEA	340441	broad.mit.edu	37	8	43211928	43211928	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:43211928G>A	ENST00000522175.2	+	0	1251							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAATCCAGGATGCAGTTAT	0.358000													8	42					0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82784618	82784618	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82784618C>T	ENST00000423517.2	-	2	1676	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	PCLO_ENST00000333891.8_Missense_Mutation_p.G447R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	398	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			S -> P (in Ref. 3; AAI22566).	cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAATCTTTCCTGGCCCAGGC	0.592000													18	57					0	0	0.00074312	0	0
INPP5D	3635	broad.mit.edu	37	2	234106805	234106805	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234106805C>T	ENST00000359570.5	+	27	2722	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	INPP5D_ENST00000450745.1_Missense_Mutation_p.P672S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P672S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	920					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGGAGTGGGGCCCTTTGGGCC	0.632000													6	28					0	0	0.00198382	0	0
IGSF3	3321	broad.mit.edu	37	1	117122404	117122404	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117122404G>T	ENST00000369486.3	-	10	3709	c.2944C>A	c.(2944-2946)Cag>Aag	p.Q982K	IGSF3_ENST00000369483.1_Missense_Mutation_p.Q1002K|IGSF3_ENST00000318837.6_Missense_Mutation_p.Q1002K	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	982	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGGAGTCCTGGCTGGAGCGG	0.602000													9	36					5.16669e-11	2.31498e-10	0.000978159	1	0
DDHD1	80821	broad.mit.edu	37	14	53570438	53570438	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:53570438G>A	ENST00000357758.3	-	2	1158	c.975C>T	c.(973-975)ttC>ttT	p.F325F	DDHD1_ENST00000323669.5_Silent_p.F325F|DDHD1_ENST00000395606.1_Silent_p.F325F	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	325					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCAATATCGAAATTTTCCT	0.338000													5	44					0	0	0.00116845	0	0
BUB1	699	broad.mit.edu	37	2	111399377	111399377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:111399377G>A	ENST00000535254.1	-	20	2474	c.2407C>T	c.(2407-2409)Caa>Taa	p.Q803*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.Q823*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.Q823*|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	823	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GCAGGCTTTTGGACCTGCAAA	0.403000													50	145					0	0	0.000781405	0	0
EDARADD	128178	broad.mit.edu	37	1	236645877	236645877	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:236645877G>A	ENST00000359362.5	+	6	760	c.546G>A	c.(544-546)gaG>gaA	p.E182E	EDARADD_ENST00000334232.4_Silent_p.E192E	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	192	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCGACGTGGAGAAGGTTCTGC	0.622000													31	77					0	0	0.000814825	0	0
HCFC1	3054	broad.mit.edu	37	X	153222148	153222148	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153222148G>A	ENST00000310441.7	-	15	3529	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C	HCFC1_ENST00000369984.4_Missense_Mutation_p.R855C|HCFC1_ENST00000354233.3_Missense_Mutation_p.R786C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	855	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGACCAGGCGAACACCCCCC	0.642000													19	26					0	0	0.000375601	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460585	32460585	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:32460585C>T	ENST00000395900.1	+	0	1463				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						TTACTTTCACCCCGGCGCTGT	0.607000													8	63					0	0	0.000978159	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820157	159820157	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:159820157C>T	ENST00000497452.1	-	0	517																											CGTTTGGAGTCCAATACTCAA	0.423000													84	158					0	0	0.000781405	0	0
SDHC	6391	broad.mit.edu	37	1	161298251	161298251	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:161298251C>T	ENST00000367975.2	+	3	292	c.143C>T	c.(142-144)tCa>tTa	p.S48L	SDHC_ENST00000392169.2_Intron|SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.S48L|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	48					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATATAGGTTCAAACCGTCCT	0.428000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				14	102					0	0	0.000422831	0	0
FAM83C	128876	broad.mit.edu	37	20	33880001	33880001	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:33880001G>A	ENST00000374408.3	-	1	203	c.107C>T	c.(106-108)cCg>cTg	p.P36L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	36										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGCACCAGCGGTGAGCTCTC	0.756000													9	30					0	0	0.00185496	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439994	190439994	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:190439994C>T	ENST00000261024.2	-	3	590	c.164G>A	c.(163-165)gGa>gAa	p.G55E	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	55					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)			GAGGCTGTTTCCATAGAGCTC	0.478000													20	55					0	0	0.00188189	0	0
PSD	5662	broad.mit.edu	37	10	104175873	104175873	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:104175873C>T	ENST00000020673.5	-	3	1184	c.658G>A	c.(658-660)Gat>Aat	p.D220N	PSD_ENST00000406432.1_Missense_Mutation_p.D220N	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	220					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GACCAGGTATCCCCCTGAGCC	0.527000													4	16					0	0	0.000602214	0	0
CHRM1	1128	broad.mit.edu	37	11	62678033	62678033	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62678033G>A	ENST00000306960.3	-	2	1081	c.540C>T	c.(538-540)atC>atT	p.I180I	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	180					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AGAGGAACTGGATGTAGCACT	0.607000													7	18					0	0	0.00198382	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355301	42355301	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:42355301C>T	ENST00000373003.1	-	1	337	c.34G>A	c.(34-36)Gat>Aat	p.D12N	GTSF1L_ENST00000373005.2_Missense_Mutation_p.D12N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	12							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGTGAGGATCATAAGGGCAA	0.483000													47	158					0	0	0.000781405	0	0
GRAP2	9402	broad.mit.edu	37	22	40351845	40351845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:40351845G>A	ENST00000344138.4	+	3	364	c.101G>A	c.(100-102)tGg>tAg	p.W34*	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000544756.1_Intron|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.W34*|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000543252.1_Nonsense_Mutation_p.W34*|GRAP2_ENST00000540310.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	34	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGAGGAGTGGTTTAAGGCG	0.463000													9	35					0	0	0.00185496	0	0
COQ3	51805	broad.mit.edu	37	6	99828095	99828095	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:99828095G>A	ENST00000254759.3	-	3	380	c.356C>T	c.(355-357)tCc>tTc	p.S119F	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	119					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GTCATTCATGGAATGAAGAGG	0.398000													16	31					0	0	0.000566183	0	0
FAM13C	220965	broad.mit.edu	37	10	61112191	61112191	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:61112191C>T	ENST00000277705.6	-	3	264	c.163G>A	c.(163-165)Gta>Ata	p.V55I	FAM13C_ENST00000435852.2_Missense_Mutation_p.V55I|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.V55I|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.V55I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V55I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V55I			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	55										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTCTTCTACCAGAGCCCCT	0.498000													4	16					0	0	0.000602214	0	0
NTN5	126147	broad.mit.edu	37	19	49173966	49173966	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:49173966G>A	ENST00000270235.4	-	2	373	c.278C>T	c.(277-279)tCt>tTt	p.S93F	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	93						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCAGGCAGCAGACAGGATGAG	0.662000													4	16					0	0	0.00024832	0	0
CA7	766	broad.mit.edu	37	16	66886680	66886680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:66886680G>A	ENST00000394069.3	+	6	845	c.414G>A	c.(412-414)tgG>tgA	p.W138*	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Nonsense_Mutation_p.W194*	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	194					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCACTACTGGACCTACCCGG	0.597000													15	26					0	0	0.000566183	0	0
PRELID2	153768	broad.mit.edu	37	5	145197560	145197560	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145197560G>A	ENST00000334744.4	-	5	353	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	PRELID2_ENST00000505416.1_Missense_Mutation_p.R89W|PRELID2_ENST00000511435.1_Missense_Mutation_p.R89W|PRELID2_ENST00000358004.2_Missense_Mutation_p.R89W|PRELID2_ENST00000394450.2_Missense_Mutation_p.R60W	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	101	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCTTTCCCGAGGATTGAGC	0.433000													5	26					0	0	0.00198382	0	0
FAM131A	131408	broad.mit.edu	37	3	184059642	184059642	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184059642C>T	ENST00000310585.4	+	1	1385	c.21C>T	c.(19-21)tcC>tcT	p.S7S	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	7						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACTTTGTCCTTTCTCCTCC	0.572000													35	219					0	0	0.00195071	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111697	22111697	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:22111697G>A	ENST00000390423.2	+	0	301																											TGGTTTGGAGGAGAAAGGTCG	0.483000													26	191					0	0	0.00209593	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530641	110530641	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110530641A>G	ENST00000378402.5	+	73	12039	c.11935A>G	c.(11935-11937)Aga>Gga	p.R3979G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3979					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAAAATAAGAGGGAAGAG	0.393000										HNSCC(38;0.096)			5	25					0	0	0.000602214	0	0
CREB3L3	84699	broad.mit.edu	37	19	4164509	4164509	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4164509C>T	ENST00000078445.2	+	5	733	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	CREB3L3_ENST00000595923.1_Missense_Mutation_p.H195Y|CREB3L3_ENST00000252587.3_Missense_Mutation_p.H136Y|CREB3L3_ENST00000602257.1_Missense_Mutation_p.H194Y|CREB3L3_ENST00000602147.1_Missense_Mutation_p.H196Y	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	196					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAACAGCATCACCTGGGGGC	0.552000													48	146					0	0	0.000781405	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523919	24523919	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:24523919G>A	ENST00000376862.3	+	2	819	c.186G>A	c.(184-186)ctG>ctA	p.L62L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	62					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGGCCAGCCTGGACAGCAGCA	0.627000													21	45					0	0	0.00188189	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163816	18163816	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:18163816C>T	ENST00000278816.2	+	9	2508	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R620C|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R619C|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R492C			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	620					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTCACAGATTCGTTCCCACCT	0.507000													44	83					0	0	0.000680045	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819693	159819693	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:159819693G>A	ENST00000497452.1	-	0	517																											CCATCCTGTGGATCCCATTGT	0.493000													20	110					0	0	0.00152264	0	0
KLB	152831	broad.mit.edu	37	4	39408668	39408668	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:39408668G>A	ENST00000257408.4	+	1	196	c.99G>A	c.(97-99)ggG>ggA	p.G33G		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	33					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTCCAACGGGGGATTGCAAA	0.438000													9	46					0	0	0.000274275	0	0
WWC1	23286	broad.mit.edu	37	5	167850856	167850856	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:167850856G>A	ENST00000265293.4	+	11	2095	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	WWC1_ENST00000521089.1_Missense_Mutation_p.M531I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	531					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAAAGTCCATGACCTCCCTAT	0.632000													6	29					0	0	0.00116845	0	0
MERTK	10461	broad.mit.edu	37	2	112761530	112761530	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:112761530C>T	ENST00000295408.4	+	13	2093	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	MERTK_ENST00000421804.2_Silent_p.T612T|MERTK_ENST00000409780.1_Silent_p.T436T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	612	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAGATGGGACCTCTCTGAAAG	0.468000													23	65					0	0	0.0024448	0	0
NHLRC2	374354	broad.mit.edu	37	10	115618409	115618409	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115618409C>T	ENST00000369301.3	+	2	513	c.301C>T	c.(301-303)Cat>Tat	p.H101Y		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	101	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GCCTGATCTCCATGCATTAGA	0.393000													24	123					0	0	0.000375601	0	0
DMWD	1762	broad.mit.edu	37	19	46289884	46289884	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46289884G>A	ENST00000270223.6	-	3	915	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DMWD_ENST00000377735.3_Silent_p.F290F	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	290					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCGAGAAGGCGAACTCGTTGA	0.652000													10	28					0	0	0.000673444	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547219	18547219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18547219C>T	ENST00000545187.1	-	3	516	c.230G>A	c.(229-231)tGg>tAg	p.W77*	ISYNA1_ENST00000578963.1_Nonsense_Mutation_p.W99*|ISYNA1_ENST00000317018.6_Nonsense_Mutation_p.W25*|ISYNA1_ENST00000338128.7_Nonsense_Mutation_p.W227*|ISYNA1_ENST00000457269.3_Nonsense_Mutation_p.W173*			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	227					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GTTCGCCGTCCACAGCACTAT	0.627000													39	85					0	0	0.00222228	0	0
PRSS1	5644	broad.mit.edu	37	7	142458471	142458471	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142458471C>T	ENST00000486171.1	+	2	123	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	PRSS1_ENST00000311737.7_Missense_Mutation_p.P36S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	36	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GAATTCTGTCCCCTACCAGGT	0.527000													7	106					0	0	0.00198382	0	0
OLFM3	118427	broad.mit.edu	37	1	102290780	102290780	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:102290780C>T	ENST00000370103.4	-	4	607	c.394G>A	c.(394-396)Gag>Aag	p.E132K	OLFM3_ENST00000359814.3_Missense_Mutation_p.E152K|OLFM3_ENST00000338858.5_Missense_Mutation_p.E152K|OLFM3_ENST00000536598.1_Missense_Mutation_p.E57K|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	152						extracellular region		p.E132Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCAGGAGCTCGTCCATTTTC	0.413000													11	21					0	0	0.000219431	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215657	50215657	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50215657G>A	ENST00000284509.6	-	17	1818	c.1677C>T	c.(1675-1677)tcC>tcT	p.S559S	ATP8B4_ENST00000559829.1_Silent_p.S559S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	559					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGCTCCTTTGGAATAAAGCT	0.373000													6	29					0	0	0.00116845	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088891	113088891	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113088891C>T	ENST00000409871.1	+	12	2797	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S799F	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	799							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATAGGCTCTTCTGTTGGTGGA	0.448000													31	87					0	0	0.00178596	0	0
MYO7A	4647	broad.mit.edu	37	11	76922920	76922920	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76922920C>T	ENST00000409709.3	+	46	6564	c.6292C>T	c.(6292-6294)Ctg>Ttg	p.L2098L	MYO7A_ENST00000458637.2_Silent_p.L2060L|MYO7A_ENST00000409619.2_Silent_p.L2049L|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2098	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGCCAAGCTGGCCTTCCT	0.597000													16	25					0	0	0.00121646	0	0
BAHD1	22893	broad.mit.edu	37	15	40754187	40754187	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:40754187C>T	ENST00000561234.1	+	3	1765	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	BAHD1_ENST00000416165.1_Silent_p.L503L|BAHD1_ENST00000560846.1_Silent_p.L503L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	503					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCACCCACTCCTGGGGTGCC	0.652000													7	33					0	0	0.000157383	0	0
FAM221A	340277	broad.mit.edu	37	7	23731146	23731146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23731146G>A	ENST00000344962.4	+	4	657	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	FAM221A_ENST00000409994.3_Missense_Mutation_p.A132T|FAM221A_ENST00000409653.1_Missense_Mutation_p.A132T|FAM221A_ENST00000409192.3_Missense_Mutation_p.A190T	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	190																	TCCTTATGCAGCCATGGGAGG	0.478000													40	90					0	0	0.00195071	0	0
OR51M1	390059	broad.mit.edu	37	11	5411009	5411009	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5411009C>T	ENST00000328611.3	+	1	403	c.381C>T	c.(379-381)ctC>ctT	p.L127L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	127						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGTGCTCCTCATGATGT	0.493000													26	188					0	0	0.001512	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276920	71276920	+	Missense_Mutation	SNP	C	C	T	rs36179995		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:71276920C>T	ENST00000398531.1	+	1	312	c.287C>T	c.(286-288)tCc>tTc	p.S96F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	96	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGCTCCTGTGGGGGC	0.687000													17	71					0	0	0.00229938	0	0
C22orf42	150297	broad.mit.edu	37	22	32548057	32548057	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32548057G>A	ENST00000382097.3	-	4	469	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	133										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TACGTACGGTGGTCGTGCTTG	0.358000													16	65					0	0	0.000422831	0	0
WDR16	146845	broad.mit.edu	37	17	9515626	9515626	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:9515626G>A	ENST00000352665.5	+	8	924	c.854_splice	c.e8-1	p.K285_splice	WDR16_ENST00000299764.5_Splice_Site_p.K295_splice|WDR16_ENST00000396219.3_Splice_Site_p.K217_splice	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	285						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCCCTAAAGGAAGATTCAGT	0.413000													30	51					0	0	0.00111076	0	0
SPEG	10290	broad.mit.edu	37	2	220357315	220357315	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220357315G>A	ENST00000312358.7	+	41	9743		c.e41-1		AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_Splice_Site	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCCTGGCAGGAGCCGGCCC	0.667000													46	136					0	0	0.000781405	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717612	139717612	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:139717612C>T	ENST00000263552.6	+	16	2047	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	TBXAS1_ENST00000425687.1_Silent_p.F435F|TBXAS1_ENST00000458722.1_Silent_p.F548F|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000448866.1_Silent_p.F502F|TBXAS1_ENST00000436047.2_Silent_p.F503F|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000336425.5_Silent_p.F502F|TBXAS1_ENST00000416849.2_Silent_p.F549F	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	502					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AGTTCCGGTTCCAAGCCTGCC	0.682000													30	73					0	0	0.00058488	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421649	50421649	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:50421649G>A	ENST00000435965.1	-	6	803	c.630C>T	c.(628-630)atC>atT	p.I210I	CACNA2D2_ENST00000266039.3_Silent_p.I210I|CACNA2D2_ENST00000479441.1_Silent_p.I210I|CACNA2D2_ENST00000395083.1_Silent_p.I210I|CACNA2D2_ENST00000423994.2_Silent_p.I210I|CACNA2D2_ENST00000360963.3_Silent_p.I141I|CACNA2D2_ENST00000429770.1_Silent_p.I210I|CACNA2D2_ENST00000424201.2_Silent_p.I210I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	210					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGTCCGTAGGGATCTGTACAG	0.562000													69	214					0	0	0.000781405	0	0
STAG3	10734	broad.mit.edu	37	7	99800132	99800132	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:99800132C>T	ENST00000426455.1	+	25	3026	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	STAG3_ENST00000394018.2_Silent_p.L815L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.L873L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	873					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCGCCGCCTCCTAGCCGGGT	0.527000													66	139					0	0	0.000781405	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010858	62010858	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62010858C>T	ENST00000244926.3	+	2	251	c.153C>T	c.(151-153)gcC>gcT	p.A51A	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	51						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						AATTTGATGCCCCTCCGGAAG	0.478000													27	49					0	0	0.00178596	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569055	61569055	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61569055G>A	ENST00000457692.1	+	7	950	c.617G>A	c.(616-618)gGa>gAa	p.G206E	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.G206E	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	206					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.G206E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TACTTCAAAGGAAAGTGGAAA	0.383000													13	31					0	0	0.000308642	0	0
DIO3	1735	broad.mit.edu	37	14	102028428	102028428	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102028428G>A	ENST00000510508.4	+	1	741	c.595G>A	c.(595-597)Gag>Aag	p.E199K	DIO3_ENST00000359323.3_Missense_Mutation_p.E173K			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	173					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CATCTACATCGAGGAAGCGCA	0.642000													15	84					0	0	0.000566183	0	0
PTPRT	11122	broad.mit.edu	37	20	41419927	41419927	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:41419927C>T	ENST00000373198.3	-	3	629	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	PTPRT_ENST00000373190.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373184.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G132R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G132R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G132R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	132	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGGGTTCCCTTGGGGGCCA	0.572000													21	61					0	0	0.00121646	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079153	134079153	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:134079153G>A	ENST00000514516.1	-	7	2030	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	AMOTL2_ENST00000513145.1_Silent_p.L558L|AMOTL2_ENST00000249883.5_Silent_p.L560L|AMOTL2_ENST00000422605.2_Silent_p.L560L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	560										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCGCCAGGATCTGCTCC	0.612000													10	53					0	0	0.000673444	0	0
NPAP1	23742	broad.mit.edu	37	15	24922235	24922235	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24922235C>T	ENST00000329468.2	+	1	1695	c.1221C>T	c.(1219-1221)acC>acT	p.T407T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGTGCAGACCACAGACTCCC	0.532000													5	40					0	0	0.000602214	0	0
PCNT	5116	broad.mit.edu	37	21	47847571	47847571	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47847571C>T	ENST00000359568.5	+	34	7463	c.7356C>T	c.(7354-7356)gaC>gaT	p.D2452D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2452					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGAGGGGACCTTCTGCAGG	0.567000													15	87					0	0	0.000566183	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869722	22869722	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22869722T>G	ENST00000302097.3	-	2	485	c.233A>C	c.(232-234)cAc>cCc	p.H78P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGACGGAAGTGGCCTTTCTT	0.468000													36	117					0	0	0.00148497	0	0
SPTB	6710	broad.mit.edu	37	14	65263392	65263392	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65263392C>T	ENST00000389722.3	-	10	1277	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	SPTB_ENST00000389720.3_Silent_p.L408L|SPTB_ENST00000389721.5_Silent_p.L408L|SPTB_ENST00000542895.1_Silent_p.L408L|SPTB_ENST00000556626.1_Silent_p.L408L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	408					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCAGGGCCAGCTCCCGCC	0.572000													8	44					0	0	0.000157383	0	0
COL1A1	1277	broad.mit.edu	37	17	48268796	48268796	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48268796C>T	ENST00000225964.5	-	32	2301	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	728	Triple-helical region.		G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGCATTCCCTGAAGGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						34	61					0	0	0.000509022	0	0
CEP76	79959	broad.mit.edu	37	18	12699154	12699154	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:12699154C>T	ENST00000262127.2	-	4	569	c.344G>A	c.(343-345)gGa>gAa	p.G115E	RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	115					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAAAGCTTTTCCACCCAAAAC	0.363000													19	121					0	0	0.000375601	0	0
CUL4A	8451	broad.mit.edu	37	13	113899533	113899533	+	Silent	SNP	C	C	T	rs141571594		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113899533C>T	ENST00000451881.1	+	14	1461	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	CUL4A_ENST00000375441.3_Silent_p.I404I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375440.4_Silent_p.I504I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	504					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGAAGGACATCATGGTTCATT	0.488000													8	39					0	0	0.000673444	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374282	95374282	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:95374282C>T	ENST00000494840.1	-	0	1579					NR_077228.1																						CCACATTCTTCCCTAGGGTTG	0.463000													7	29					0	0	0.000157383	0	0
ADH1B	125	broad.mit.edu	37	4	100237121	100237121	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:100237121C>T	ENST00000305046.8	-	5	568	c.501G>A	c.(499-501)ctG>ctA	p.L167L	ADH1B_ENST00000394887.3_Silent_p.L127L			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	167					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGACTTTCTCCAGGGGCGAGG	0.522000													13	73					0	0	0.000219431	0	0
C1orf85	112770	broad.mit.edu	37	1	156264212	156264212	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156264212C>G	ENST00000362007.1	-	3	549	c.523G>C	c.(523-525)Ggc>Cgc	p.G175R	C1orf85_ENST00000368264.1_Missense_Mutation_p.G89R|C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	175					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					ATGGGGTGGCCTTGAAATGTG	0.507000													9	65					0	0	0.000442599	0	0
RELN	5649	broad.mit.edu	37	7	103214583	103214583	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:103214583C>T	ENST00000428762.1	-	30	4626	c.4467G>A	c.(4465-4467)ggG>ggA	p.G1489G	RELN_ENST00000343529.5_Silent_p.G1489G|RELN_ENST00000424685.2_Silent_p.G1489G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCCCTTTTCCCAGGGCCAT	0.468000													34	119					0	0	0.000680045	0	0
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:51254950G>A	ENST00000404971.1	-	2	1801	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F|NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000405581.1_Silent_p.F154F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662000													6	16					0	0	0.00116845	0	0
TEX2	55852	broad.mit.edu	37	17	62291174	62291174	+	Missense_Mutation	SNP	G	G	A	rs76631276		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:62291174G>A	ENST00000258991.3	-	2	488	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TEX2_ENST00000583097.1_Missense_Mutation_p.S135F|TEX2_ENST00000584379.1_Missense_Mutation_p.S135F			Q8IWB9	TEX2_HUMAN	testis expressed 2	135					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGACCCTGGGGACACAGCCAA	0.542000													30	74					0	0	0.000814825	0	0
INTS9	55756	broad.mit.edu	37	8	28638404	28638404	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28638404G>A	ENST00000416984.2	-	11	1502	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	INTS9_ENST00000397363.4_Silent_p.F296F|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000521777.1_Silent_p.F378F|INTS9_ENST00000521022.1_Silent_p.F402F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	402					snRNA processing	integrator complex	protein binding	p.F402F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCACGTCCCCGAAGCGGAGGG	0.493000													6	46					0	0	0.00116845	0	0
ASB15	142685	broad.mit.edu	37	7	123269251	123269251	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:123269251C>T	ENST00000451558.1	+	12	1724	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	ASB15_ENST00000434204.1_Silent_p.S401S|ASB15_ENST00000451215.1_Silent_p.S401S|ASB15_ENST00000540573.1_Silent_p.S401S|ASB15_ENST00000275699.3_Silent_p.S401S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	401					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCTTCTCTCCCATGGAGCTA	0.443000													35	57					0	0	0.0024448	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917128	89917128	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:89917128G>A	ENST00000548729.1	-	3	1492	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.P228L|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|GALNT4_ENST00000529983.2_Missense_Mutation_p.P400L|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TTTTCTTGCTGGAGGGTTTCT	0.423000													35	66					0	0	0.000953801	0	0
ERC2	26059	broad.mit.edu	37	3	56468714	56468714	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:56468714C>T	ENST00000288221.6	-	2	577	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	108						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGGAAAGTCCAGCAGAAGCA	0.527000													27	75					0	0	0.00106085	0	0
GALNT13	114805	broad.mit.edu	37	2	155307062	155307062	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:155307062G>A	ENST00000392825.3	+	13	2237	c.1670G>A	c.(1669-1671)tGa>tAa	p.*557*	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	0						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTGGGCACATGAAGATCATGT	0.403000													8	18					0	0	0.000274275	0	0
KANSL3	55683	broad.mit.edu	37	2	97267445	97267445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:97267445G>A	ENST00000599854.1	-	20	2757	c.2290C>T	c.(2290-2292)Cct>Tct	p.P764S	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.P671S|KANSL3_ENST00000431828.1_Missense_Mutation_p.P851S|KANSL3_ENST00000441706.2_Intron	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	877	Ser-rich.																GAGCCCATAGGGCTCAGTGTA	0.562000													9	20					0	0	0.000673444	0	0
PRAM1	84106	broad.mit.edu	37	19	8564377	8564377	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564377C>T	ENST00000423345.4	-	2	835	c.315G>A	c.(313-315)aaG>aaA	p.K105K	PRAM1_ENST00000255612.3_Silent_p.K105K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	153	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGGGCTTCTTGGGGAGGT	0.657000													52	273					0	0	0.000781405	0	0
CSRP1	1465	broad.mit.edu	37	1	201453853	201453853	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201453853G>A	ENST00000367306.1	-	7	933	c.570C>T	c.(568-570)gtC>gtT	p.V190V	CSRP1_ENST00000340006.2_Silent_p.V190V|CSRP1_ENST00000532460.1_Silent_p.V190V|CSRP1_ENST00000526723.1_Silent_p.V157V|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.V190V			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	190						nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						ACTCAGAGTGGACCAAGGCCC	0.542000													14	26					0	0	0.000219431	0	0
CYTH1	9267	broad.mit.edu	37	17	76694375	76694375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:76694375G>A	ENST00000589297.1	-	9	1302	c.610C>T	c.(610-612)Cga>Tga	p.R204*	CYTH1_ENST00000361101.4_Nonsense_Mutation_p.R263*|CYTH1_ENST00000591455.1_Nonsense_Mutation_p.R263*|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Nonsense_Mutation_p.R204*|CYTH1_ENST00000446868.3_Nonsense_Mutation_p.R263*			Q15438	CYH1_HUMAN	cytohesin 1	263					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CAGCCTTCTCGGTCTGGATTG	0.478000													65	93					0	0	0.000781405	0	0
ERC2	26059	broad.mit.edu	37	3	56468774	56468774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:56468774G>A	ENST00000288221.6	-	2	517	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	88						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TATACAGCTCGATTTGTAGCC	0.498000													25	88					0	0	0.00209593	0	0
NLRP4	147945	broad.mit.edu	37	19	56363457	56363457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56363457C>T	ENST00000301295.6	+	2	433	c.11C>T	c.(10-12)tCt>tTt	p.S4F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S4F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	4	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCAGCCTCTTTCTTCTCT	0.398000													58	141					0	0	0.000781405	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421260	39421260	+	Silent	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:39421260C>G	ENST00000216099.7	+	3	803	c.396C>G	c.(394-396)gcC>gcG	p.A132A	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.A132A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	132					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CCATCTCTGCCGCCCGCCTCT	0.562000													25	70					0	0	0.000586117	0	0
TEX15	56154	broad.mit.edu	37	8	30700826	30700826	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30700826G>A	ENST00000256246.2	-	1	5782	c.5708C>T	c.(5707-5709)tCc>tTc	p.S1903F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1903										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGCTGAAGGATTGTGTTCT	0.348000													25	78					0	0	0.000878237	0	0
ETS1	2113	broad.mit.edu	37	11	128354817	128354817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128354817G>A	ENST00000392668.3	-	7	831	c.763C>T	c.(763-765)Cga>Tga	p.R255*	ETS1_ENST00000319397.5_Nonsense_Mutation_p.R211*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R211*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.1_Nonsense_Mutation_p.R211*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R211*	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	211					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R211*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGAGGGTCTCGGAGAATGACC	0.532000													23	30					0	0	0.00127121	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868538	22868538	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:22868538C>T	ENST00000302097.3	-	2	1669	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTTTGATGGTCCTTGGTTTTG	0.453000													50	121					0	0	0.000781405	0	0
COL23A1	91522	broad.mit.edu	37	5	177686725	177686725	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:177686725C>T	ENST00000390654.3	-	12	1083	c.726G>A	c.(724-726)aaG>aaA	p.K242K	COL23A1_ENST00000407622.1_Silent_p.K206K	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	242	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTCTCACCTTCTTTCCAGGTA	0.622000													30	107					0	0	0.000953801	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494266	106494266	+	RNA	SNP	C	C	T	rs1065550		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106494266C>T	ENST00000390597.2	-	0	245																											CGCTTATCATCATTCCAATAA	0.537000													7	38					0	0	0.00198382	0	0
ASAH1	427	broad.mit.edu	37	8	17930773	17930773	+	Silent	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:17930773A>T	ENST00000314146.10	-	3	369	c.186T>A	c.(184-186)gcT>gcA	p.A62A	ASAH1_ENST00000417108.2_Intron|ASAH1_ENST00000520051.1_Intron|ASAH1_ENST00000520781.1_Intron|ASAH1_ENST00000262097.6_Intron|ASAH1_ENST00000381733.4_Intron	NM_001127505.1	NP_001120977.1	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	42					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		ACCTTATAACAGCAGGGAAGA	0.323000													6	22					0	0	0.00198382	0	0
LRRK1	79705	broad.mit.edu	37	15	101567520	101567520	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:101567520C>T	ENST00000284395.5	+	19	2851	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	LRRK1_ENST00000388948.3_Silent_p.F820F			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	820	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGATTTTCCACGTCACGT	0.572000													10	63					0	0	0.000673444	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792173	26792173	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26792173G>A	ENST00000376236.4	+	6	956	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	167					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGCTGGCGCTGGAAAAACTGA	0.413000													9	78					0	0	0.000274275	0	0
GPR50	9248	broad.mit.edu	37	X	150348569	150348569	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:150348569G>A	ENST00000218316.3	+	2	583	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	172					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGTACGATCCTCGCAC	0.527000													41	54					0	0	0.00170553	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618082	111618082	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:111618082G>A	ENST00000374667.3	-	1	1157	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	43						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCACCTTCCTGGGCTTCATCT	0.647000													63	78					0	0	0.000781405	0	0
FOXK2	3607	broad.mit.edu	37	17	80541952	80541952	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:80541952C>T	ENST00000335255.5	+	6	1341	c.1167C>T	c.(1165-1167)acC>acT	p.T389T		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	389					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCGCCCAGACCCCTGAGAGCC	0.637000													13	19					0	0	0.000219431	0	0
FGF13	2258	broad.mit.edu	37	X	137717816	137717816	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:137717816C>T	ENST00000315930.6	-	4	1064	c.402_splice	c.e4-1	p.E135_splice	FGF13_ENST00000441825.2_Splice_Site_p.E116_splice|FGF13_ENST00000370603.3_Splice_Site_p.E145_splice|FGF13_ENST00000541469.1_Splice_Site_p.E89_splice|FGF13_ENST00000305414.4_Splice_Site_p.E82_splice	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	135					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTGAAAAGTTCCTGCAACAAA	0.348000													6	5					0	0	0.00116845	0	0
ARID2	196528	broad.mit.edu	37	12	46244517	46244517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:46244517C>T	ENST00000334344.6	+	15	2783	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q481*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q722*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	871	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGAATTTTCAGGTAGCTAC	0.448000			"""N, S, F"""		hepatocellular carcinoma								19	36					0	0	0.000958276	0	0
ROS1	6098	broad.mit.edu	37	6	117681170	117681170	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:117681170G>A	ENST00000368508.3	-	23	3648	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I1145I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1150					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAAATGGGTTGATTTCTGAAA	0.343000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	20					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135239	126135239	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:126135239G>A	ENST00000299308.3	+	7	1647	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E59K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	547						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTACCCGGGAAAGCGATGA	0.537000													13	21					0	0	0.000219431	0	0
FAM153B	202134	broad.mit.edu	37	5	175530253	175530253	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:175530253G>A	ENST00000253490.4	+	13	745	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.E153K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E153K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	230										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTACTTCAGGAGCTGTCCAG	0.488000													22	299					0	0	0.001512	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909608	182909608	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182909608G>A	ENST00000367547.3	-	3	862	c.626C>T	c.(625-627)tCt>tTt	p.S209F	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.S90F	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	281										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATGTTGGAAGAAAAGGGCTC	0.383000													10	81					0	0	0.000673444	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536078	38536078	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:38536078G>A	ENST00000332509.3	-	5	891	c.708C>T	c.(706-708)gtC>gtT	p.V236V	PLA2G6_ENST00000402064.1_Silent_p.V236V|PLA2G6_ENST00000335539.3_Silent_p.V236V	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	236					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCAGCACGCGGACCATCTCCT	0.612000													11	41					0	0	0.000978159	0	0
TSPEAR	54084	broad.mit.edu	37	21	45948356	45948356	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45948356C>T	ENST00000323084.4	-	6	966	c.901G>A	c.(901-903)Gag>Aag	p.E301K	TSPEAR_ENST00000397916.1_Missense_Mutation_p.E233K	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	301					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGACCCACTCGTTGCCAACA	0.632000													28	124					0	0	0.001512	0	0
MDC1	9656	broad.mit.edu	37	6	30680528	30680528	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:30680528G>A	ENST00000376406.3	-	5	1838	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S397S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	397	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGATAACCATGGAAGCTTGGC	0.537000								Other conserved DNA damage response genes					27	45					0	0	0.001512	0	0
SUN1	23353	broad.mit.edu	37	7	883214	883214	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:883214C>T	ENST00000457378.2	+	7	1014	c.778C>T	c.(778-780)Cct>Tct	p.P260S	SUN1_ENST00000401592.1_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.P239S|SUN1_ENST00000452783.2_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATATTTCCTTTCTGTAA	0.393000													14	64					0	0	0.00185496	0	0
NPTXR	23467	broad.mit.edu	37	22	39222561	39222561	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:39222561C>T	ENST00000333039.2	-	3	1165	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	348	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTACAATCTCGTTGGCCTGC	0.672000													33	90					0	0	0.00058488	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579908	148579908	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:148579908C>T	ENST00000506113.1	+	4	847	c.365C>T	c.(364-366)aCc>aTc	p.T122I	ABLIM3_ENST00000309868.7_Missense_Mutation_p.T122I|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.T122I|ABLIM3_ENST00000508983.1_Missense_Mutation_p.T122I|ABLIM3_ENST00000356541.3_Missense_Mutation_p.T122I|ABLIM3_ENST00000504238.1_Missense_Mutation_p.T122I			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	122	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAGGTGACCTTCAGCGGT	0.542000													7	27					0	0	0.000442599	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509892	117509892	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117509892C>T	ENST00000393203.2	+	6	2146	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	667						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAGGGGCAGCCTTTGGCGAGA	0.542000													12	44					0	0	0.00185496	0	0
TDRD9	122402	broad.mit.edu	37	14	104470649	104470649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:104470649G>A	ENST00000409874.4	+	14	1606	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	TDRD9_ENST00000339063.5_Missense_Mutation_p.D520N	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	520	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTCCATCCCTGATCATGTTGT	0.393000													9	30					0	0	0.000978159	0	0
TBCE	6905	broad.mit.edu	37	1	235600750	235600750	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:235600750C>T	ENST00000543662.1	+	13	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	TBCE_ENST00000406207.1_Silent_p.I359I|TBCE_ENST00000366601.3_Silent_p.I359I|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	359					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TACTCATTATCGCCAGCATTG	0.463000													25	51					0	0	0.00127121	0	0
FADS2	9415	broad.mit.edu	37	11	61607868	61607868	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61607868G>A	ENST00000278840.4	+	3	1011	c.381G>A	c.(379-381)aaG>aaA	p.K127K	FADS2_ENST00000257261.6_Silent_p.K105K|FADS2_ENST00000521849.1_Silent_p.K127K|FADS2_ENST00000522056.1_Silent_p.K96K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	127					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGTTCAAGACCAACCACG	0.532000													62	84					0	0	0.000781405	0	0
ACAN	176	broad.mit.edu	37	15	89400471	89400471	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:89400471G>A	ENST00000439576.2	+	12	5029	c.4655G>A	c.(4654-4656)gGa>gAa	p.G1552E	ACAN_ENST00000352105.7_Missense_Mutation_p.G1552E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1552E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1552E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1552					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCTGGAGGAGAAGGTCTA	0.537000													7	24					0	0	0.000274275	0	0
PGAP1	80055	broad.mit.edu	37	2	197708737	197708737	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197708737G>A	ENST00000354764.3	-	25	2514	c.2400C>T	c.(2398-2400)caC>caT	p.H800H		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	800					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AACGAAGATGGTGTATTGAGG	0.363000													9	42					0	0	0.000673444	0	0
LBP	3929	broad.mit.edu	37	20	36993332	36993332	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:36993332G>A	ENST00000217407.2	+	8	1008	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	283			D -> G (in dbSNP:rs2232607).		acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGCCATCTCGGATTATGTCTT	0.468000													72	146					0	0	0.000781405	0	0
TMEM180	79847	broad.mit.edu	37	10	104235720	104235720	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:104235720C>T	ENST00000238936.4	+	10	1770	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	TMEM180_ENST00000366277.2_Silent_p.T240T	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	511						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCCCAAACCCTGGATGTTA	0.557000													7	23					0	0	0.000442599	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038617	14038617	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:14038617G>A	ENST00000380523.4	-	4	370	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	GEMIN8_ENST00000398355.3_Missense_Mutation_p.H18Y|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	18					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATACCGGATGAGAATACCAA	0.443000													18	36					0	0	0.000958276	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479974	142479974	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142479974C>T	ENST00000603901.1	+	0	106					NR_001296.3																						GAATTCTGTCCCCTACCAGGT	0.547000													9	122					0	0	0.000673444	0	0
CRYBB2	1415	broad.mit.edu	37	22	25621000	25621000	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:25621000G>A	ENST00000398215.2	+	3	341	c.170G>A	c.(169-171)gGa>gAa	p.G57E		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	57	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTGCAGGCTGGACCGTAAGTA	0.562000													21	60					0	0	0.00047179	0	0
GABRA6	2559	broad.mit.edu	37	5	161128565	161128565	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:161128565C>T	ENST00000523217.1	+	9	1360	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	GABRA6_ENST00000274545.5_Missense_Mutation_p.S383L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	383					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAATAGTTTCATCTTCCGAG	0.448000										TCGA Ovarian(5;0.080)			11	72					0	0	0.000978159	0	0
APOBEC1	339	broad.mit.edu	37	12	7803668	7803668	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7803668G>A	ENST00000229304.4	-	4	532	c.512C>T	c.(511-513)cCa>cTa	p.P171L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	171					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCACAGAGGTGGGTATTGTGG	0.438000													45	67					0	0	0.000680045	0	0
ABCA7	10347	broad.mit.edu	37	19	1051955	1051955	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:1051955C>T	ENST00000263094.6	+	22	3208	c.2977C>T	c.(2977-2979)Ctc>Ttc	p.L993F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L993F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L855F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	993	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCTGATCCTCTCCACCCA	0.672000													23	83					0	0	0.000878237	0	0
ZNF337	26152	broad.mit.edu	37	20	25656527	25656527	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:25656527C>T	ENST00000376436.1	-	4	1936	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G466E|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G434E					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAGCCTCGTCCACAGTCCTT	0.473000													20	91					0	0	0.000375601	0	0
GRM8	2918	broad.mit.edu	37	7	126882981	126882981	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:126882981A>G	ENST00000339582.2	-	2	1086	c.278T>C	c.(277-279)cTt>cCt	p.L93P	GRM8_ENST00000358373.3_Missense_Mutation_p.L93P|GRM8_ENST00000405249.1_Missense_Mutation_p.L93P|GRM8_ENST00000444921.2_Missense_Mutation_p.L93P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	93					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATGTTGGAAAGGAGATCAGG	0.498000										HNSCC(24;0.065)			9	16					0	0	0.000442599	0	0
MSX1	4487	broad.mit.edu	37	4	4864760	4864760	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:4864760G>A	ENST00000382723.4	+	2	1036	c.802G>A	c.(802-804)Ggt>Agt	p.G268S		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	262					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCGCGGCGGGTGCCTCGCT	0.706000													11	23					0	0	0.000673444	0	0
OR2J2	26707	broad.mit.edu	37	6	29141959	29141959	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29141959C>T	ENST00000377167.2	+	1	649	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGTGAAGTTCCAGCACTTCT	0.438000													35	61					0	0	0.000692331	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767676	121767676	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:121767676G>A	ENST00000261367.7	+	8	2764	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SNCAIP_ENST00000261368.8_Missense_Mutation_p.E399K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E339K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E446K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E33K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E446K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	399					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGTCAGTTGGAGTGCGTACG	0.403000													5	12					0	0	0.00116845	0	0
APOM	55937	broad.mit.edu	37	6	31624370	31624370	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31624370C>A	ENST00000375916.3	+	2	732	c.236C>A	c.(235-237)cCg>cAg	p.P79Q	APOM_ENST00000375918.2_Missense_Mutation_p.P7Q|APOM_ENST00000375920.4_Missense_Mutation_p.P7Q	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	79					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	p.P79Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GGCTCTGCCCCGATGCAGCTC	0.547000													10	334					0.00136819	0.00603289	0.00136819	1	0
AC096579.13	0	broad.mit.edu	37	2	89160118	89160118	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89160118C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							GAAGGTGATCCACAGTGTTAA	0.388000													31	92					0	0	0.000692331	0	0
BAI2	576	broad.mit.edu	37	1	32193193	32193193	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32193193G>A	ENST00000373658.3	-	33	4927	c.4586C>T	c.(4585-4587)cCt>cTt	p.P1529L	BAI2_ENST00000440175.2_Missense_Mutation_p.P1119L|BAI2_ENST00000398542.1_Missense_Mutation_p.P1410L|BAI2_ENST00000398547.1_Missense_Mutation_p.P1443L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.P1495L|BAI2_ENST00000398556.3_Missense_Mutation_p.P1444L|BAI2_ENST00000373655.2_Missense_Mutation_p.P1528L|BAI2_ENST00000527361.1_Missense_Mutation_p.P1495L|BAI2_ENST00000398538.1_Missense_Mutation_p.P1498L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1529					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCGCTCCCCAGGGCTGGGCTT	0.617000													9	20					0	0	0.000442599	0	0
OR6K3	391114	broad.mit.edu	37	1	158687584	158687584	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158687584C>T	ENST00000368146.1	-	1	369	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	OR6K3_ENST00000368145.1_Missense_Mutation_p.E108K			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCTGAGTTTTCAAGTGAGTGG	0.498000													21	102					0	0	0.000375601	0	0
FAM188B	84182	broad.mit.edu	37	7	30825503	30825503	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30825503C>A	ENST00000265299.6	+	4	635	c.558C>A	c.(556-558)caC>caA	p.H186Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	186										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAAGCTTCACTCGGAGCCTT	0.537000													26	60					1.06801e-11	4.78716e-11	0.00178596	1	0
AHNAK2	113146	broad.mit.edu	37	14	105406373	105406373	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105406373C>T	ENST00000333244.5	-	7	15534	c.15415G>A	c.(15415-15417)Ggg>Agg	p.G5139R	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G137R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5139			G -> E (in dbSNP:rs61421370).			nucleus		p.G109R(1)|p.G5139R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACATCCCCGAGCCCACAT	0.582000													14	56					0	0	0.00185496	0	0
LGALS4	3960	broad.mit.edu	37	19	39299477	39299477	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:39299477C>T	ENST00000307751.4	-	3	723	c.246G>A	c.(244-246)ggG>ggA	p.G82G	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	82	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGCCCCACTTCCCGCCCTGCA	0.582000													30	49					0	0	0.00209593	0	0
HHLA2	11148	broad.mit.edu	37	3	108072555	108072555	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:108072555G>A	ENST00000357759.5	+	4	760	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HHLA2_ENST00000491820.1_Missense_Mutation_p.E116K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E52K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E116K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E116K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	116	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCTTCTGGACGAAGGAATTTA	0.398000													6	37					0	0	0.000157383	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703336	60703336	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:60703336G>A	ENST00000005286.4	+	11	2185	c.2031_splice	c.e11-1	p.E678_splice	TMEM132A_ENST00000453848.2_Splice_Site_p.E677_splice	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	677	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGCCCCACAGGAGGTGGCCCT	0.612000													64	106					0	0	0.000781405	0	0
CTSE	1510	broad.mit.edu	37	1	206328852	206328852	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206328852G>A	ENST00000361052.3	+	7	1052	c.934G>A	c.(934-936)Gat>Aat	p.D312N	CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron|CTSE_ENST00000358184.2_Missense_Mutation_p.D307N			P14091	CATE_HUMAN	cathepsin E	312					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGCCCCCGTGGATGGAGAAGT	0.602000													4	28					0	0	0.00198382	0	0
COL6A5	256076	broad.mit.edu	37	3	130159097	130159097	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130159097G>A	ENST00000265379.6	+	35	6409	c.5915G>A	c.(5914-5916)cGg>cAg	p.R1972Q	COL6A5_ENST00000432398.2_Missense_Mutation_p.R1972Q			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1972	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.R11Q(1)|p.R1972Q(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GACAATTCTCGGAATATAGCA	0.398000													9	20					0	0	0.000673444	0	0
RGPD4	285190	broad.mit.edu	37	2	108496519	108496519	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:108496519C>T	ENST00000408999.3	+	21	5097	c.5020C>T	c.(5020-5022)Cgg>Tgg	p.R1674W	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1674W	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1674					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CGGCCTGCTTCGGGAAGCAGA	0.463000													57	162					0	0	0.000781405	0	0
STX17	55014	broad.mit.edu	37	9	102722256	102722256	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:102722256C>T	ENST00000259400.6	+	5	609	c.473C>T	c.(472-474)gCc>gTc	p.A158V	STX17_ENST00000525640.1_Missense_Mutation_p.A158V|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Missense_Mutation_p.A158V	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	158					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAGATATATGCCTTACCTGAA	0.368000													23	54					0	0	0.00127121	0	0
USH2A	7399	broad.mit.edu	37	1	216497628	216497628	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:216497628C>T	ENST00000366943.2	-	7	1596	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	USH2A_ENST00000366942.3_Missense_Mutation_p.E404K|USH2A_ENST00000307340.3_Missense_Mutation_p.E404K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	404	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTATTTTCCTTCTTCCTT	0.328000										HNSCC(13;0.011)			15	35					0	0	0.000422831	0	0
KLK7	5650	broad.mit.edu	37	19	51480807	51480807	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:51480807C>T	ENST00000391807.1	-	6	848	c.747G>A	c.(745-747)atG>atA	p.M249I	KLK7_ENST00000336317.4_Missense_Mutation_p.M136I|KLK7_ENST00000597707.1_Missense_Mutation_p.M177I|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.M249I	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	249	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GATGCTTTTTCATGGTGTCAT	0.473000													23	61					0	0	0.000720815	0	0
FAM131A	131408	broad.mit.edu	37	3	184062320	184062320	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184062320G>A	ENST00000310585.4	+	3	1934	c.570G>A	c.(568-570)caG>caA	p.Q190Q	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Silent_p.Q98Q|FAM131A_ENST00000453072.1_Silent_p.Q136Q|FAM131A_ENST00000340957.5_Silent_p.Q136Q|FAM131A_ENST00000383847.2_Silent_p.Q221Q|FAM131A_ENST00000450976.1_Silent_p.Q136Q			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	190						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCACCTCCAGGACCTGTTCA	0.632000													20	152					0	0	0.000375601	0	0
HSF1	3297	broad.mit.edu	37	8	145535066	145535066	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:145535066G>C	ENST00000528838.1	+	6	784	c.624G>C	c.(622-624)aaG>aaC	p.K208N	HSF1_ENST00000400780.4_Missense_Mutation_p.K143N	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	208						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGAAGAGAAAGATGTGAGGTT	0.622000													18	78					0	0	0.000375601	0	0
ROR1	4919	broad.mit.edu	37	1	64605890	64605890	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:64605890G>A	ENST00000371079.1	+	6	1084	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.E237K	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	237	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTACTGCGATGAAACTTCATC	0.468000													20	73					0	0	0.00188189	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:19451758G>A	ENST00000396229.2	+	3	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_ENST00000541464.1_Missense_Mutation_p.R133Q|TMC5_ENST00000381414.4_Missense_Mutation_p.R133Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R133Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	133						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATCTCAACGAAATCCTGAT	0.498000													26	118					0	0	0.00106085	0	0
FMN2	56776	broad.mit.edu	37	1	240255920	240255920	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:240255920G>A	ENST00000319653.9	+	1	741	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	171					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGGGCGCAGGATGGACAAAG	0.632000													15	46					0	0	0.000958276	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378861	92378861	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92378861G>A	ENST00000276609.3	+	14	1781	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.L514L|SLC26A7_ENST00000309536.2_Silent_p.L514L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	514	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTTCCTGAATGCAAAAA	0.338000													22	68					0	0	0.00229938	0	0
MB	4151	broad.mit.edu	37	22	36007086	36007086	+	Missense_Mutation	SNP	C	C	T	rs145465287		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36007086C>T	ENST00000397326.2	-	2	361	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MB_ENST00000406324.1_Missense_Mutation_p.E55K|MB_ENST00000359787.1_Missense_Mutation_p.E55K|MB_ENST00000397328.1_Missense_Mutation_p.E55K|MB_ENST00000401702.1_5'UTR	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	55			E -> K.				heme binding|oxygen transporter activity			lung(1)	1						GCCTTCATCTCGTCCTCTGAC	0.542000													33	85					0	0	0.000509022	0	0
H6PD	9563	broad.mit.edu	37	1	9324785	9324785	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:9324785C>T	ENST00000377403.2	+	5	2535	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	H6PD_ENST00000602477.1_Silent_p.L756L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	745	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	p.V744fs*6(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGTGGCAGTCCTGGTCATGGG	0.657000													16	50					0	0	0.000566183	0	0
SCD5	79966	broad.mit.edu	37	4	83601881	83601881	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:83601881G>A	ENST00000319540.4	-	3	867	c.548C>T	c.(547-549)cCt>cTt	p.P183L	SCD5_ENST00000273908.4_Missense_Mutation_p.P183L	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	183					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCGGACCACAGGATCAGCAAG	0.512000													5	43					0	0	0.00116845	0	0
HECW2	57520	broad.mit.edu	37	2	197182013	197182013	+	Missense_Mutation	SNP	C	C	T	rs138652045		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:197182013C>T	ENST00000260983.2	-	10	2601	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	HECW2_ENST00000409111.1_Missense_Mutation_p.E451K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	807	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGAGAGCCTCGTCCACCCTC	0.522000													6	30					0	0	0.00116845	0	0
PATL1	219988	broad.mit.edu	37	11	59423975	59423975	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59423975G>A	ENST00000300146.9	-	6	804	c.720C>T	c.(718-720)gtC>gtT	p.V240V		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	240	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACATACCGGGACACTGCAGA	0.458000													10	22					0	0	0.000673444	0	0
MTBP	27085	broad.mit.edu	37	8	121471542	121471542	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:121471542C>T	ENST00000305949.1	+	8	880	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	279					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTGACTTCCTTGCCAAAAA	0.294000													16	72					0	0	0.000566183	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159464	57159464	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:57159464G>A	ENST00000371244.4	+	5	568	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	168	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCAGATGGTGAATTTCTGAG	0.318000													77	172					0	0	0.000781405	0	0
ARPP21	10777	broad.mit.edu	37	3	35730874	35730874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35730874C>T	ENST00000187397.4	+	7	938	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARPP21_ENST00000337271.5_Missense_Mutation_p.S161F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S161F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S161F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S161F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	161						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGAATAATTCCAGGTAAATT	0.328000													3	7					0	0	6.4e-05	0	0
CAD	790	broad.mit.edu	37	2	27445150	27445150	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27445150C>T	ENST00000264705.4	+	4	603	c.441C>T	c.(439-441)tcC>tcT	p.S147S	CAD_ENST00000403525.1_Silent_p.S147S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	147	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACCTTCATCCCTGCCATTCT	0.542000													20	54					0	0	0.000958276	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047960	42047960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:42047960C>A	ENST00000372584.1	-	3	3523	c.2509G>T	c.(2509-2511)Gga>Tga	p.G837*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.G837*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.G837*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.G837*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	837	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAGAGCGTCCGTGTGGGGCA	0.587000													7	174					0.000274275	0.00121629	0.000274275	1	0
ACSL6	23305	broad.mit.edu	37	5	131303700	131303700	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:131303700G>A	ENST00000379264.2	-	16	1637	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L	ACSL6_ENST00000379255.1_Missense_Mutation_p.P410L|ACSL6_ENST00000379240.1_Missense_Mutation_p.P485L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P510L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P410L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P485L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P465L|ACSL6_ENST00000543479.1_Missense_Mutation_p.P485L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P500L|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Missense_Mutation_p.P485L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P394L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P496L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	485					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGATTGCAGGGAAGTGGCGC	0.488000													13	59					0	0	0.00136819	0	0
BRSK1	84446	broad.mit.edu	37	19	55820080	55820080	+	Silent	SNP	C	C	T	rs143699775		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:55820080C>T	ENST00000309383.1	+	18	2440	c.2163C>T	c.(2161-2163)tcC>tcT	p.S721S	BRSK1_ENST00000590333.1_Silent_p.S737S|BRSK1_ENST00000326848.7_Silent_p.S416S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	721					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCAGCCCTCCGTGCAGGCCC	0.721000													11	17					0	0	0.000219431	0	0
NGRN	51335	broad.mit.edu	37	15	90814499	90814499	+	Silent	SNP	C	C	A	rs11547112		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:90814499C>A	ENST00000379095.3	+	3	363	c.355C>A	c.(355-357)Cga>Aga	p.R119R	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	119					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGATGTGATCCGAAGAGTTTT	0.473000													6	126					0.00198382	0.0087276	0.00198382	1	0
CD80	941	broad.mit.edu	37	3	119263484	119263484	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:119263484C>T	ENST00000264246.3	-	3	693	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CD80_ENST00000383669.3_Missense_Mutation_p.E111K|CD80_ENST00000383668.3_Missense_Mutation_p.E111K|CD80_ENST00000478182.1_Missense_Mutation_p.E111K	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	111	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TATGTGCCCTCGTCAGATGGG	0.478000													29	59					0	0	0.00127121	0	0
FLG	2312	broad.mit.edu	37	1	152281751	152281751	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152281751C>T	ENST00000368799.1	-	3	5646	c.5611G>A	c.(5611-5613)Gag>Aag	p.E1871K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1871	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTTCTCATTACGTGTT	0.577000									Ichthyosis				93	186					0	0	0.000781405	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209569	3209569	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:3209569G>A	ENST00000380059.3	-	17	2337	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	SLC4A11_ENST00000380056.3_Missense_Mutation_p.H719Y|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.H703Y	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	719	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TAGGCGGCATGGATCCAAGGC	0.622000													22	52					0	0	0.000878237	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560950	44560950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44560950G>A	ENST00000332567.4	-	1	1038	c.686C>T	c.(685-687)tCg>tTg	p.S229L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	229					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCGAGACGATTTGTGCCC	0.617000													10	20					0	0	0.000673444	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957285	143957285	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143957285G>A	ENST00000292427.4	-	6	996	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.P393S|CYP11B1_ENST00000517471.1_Missense_Mutation_p.P322S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ATCAGCAAGGGAAACACCGTC	0.647000									Familial Hyperaldosteronism type I				26	107					0	0	0.001512	0	0
ITGA1	3672	broad.mit.edu	37	5	52235458	52235458	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:52235458C>T	ENST00000282588.6	+	25	3575	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1039					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGGATCCTTTCAGTATCAACT	0.353000													5	34					0	0	0.00198382	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970616	45970616	+	Silent	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45970616T>A	ENST00000391621.1	-	1	772	c.726A>T	c.(724-726)ccA>ccT	p.P242P	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	242						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCAGGAGGCTGGGCGGGAGC	0.667000													19	67					0	0	0.00152264	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993277	140993277	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:140993277G>A	ENST00000285879.4	+	4	373	c.87G>A	c.(85-87)gaG>gaA	p.E29E	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	29							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGGGAGGACTCCCAGT	0.572000										HNSCC(15;0.026)			14	17					0	0	0.000219431	0	0
SYT10	341359	broad.mit.edu	37	12	33560282	33560282	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33560282G>A	ENST00000228567.3	-	3	815	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCTTCGGAAGGAACTGTGGC	0.438000													26	58					0	0	0.00178596	0	0
OR4B1	119765	broad.mit.edu	37	11	48239282	48239282	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:48239282G>A	ENST00000309562.2	+	1	939	c.921G>A	c.(919-921)ggG>ggA	p.G307G		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAATCCAGGGAGGGAGTGAA	0.408000													10	14					0	0	0.000673444	0	0
KCNAB1	7881	broad.mit.edu	37	3	156192535	156192535	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:156192535C>T	ENST00000302490.8	+	8	1401	c.530C>T	c.(529-531)tCc>tTc	p.S177F	KCNAB1_ENST00000490337.1_Missense_Mutation_p.S195F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S184F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	195						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTGAAGGGCTCCCTCCAGAGG	0.428000													26	75					0	0	0.00127121	0	0
KIAA1324	57535	broad.mit.edu	37	1	109742720	109742720	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109742720G>T	ENST00000369939.3	+	20	2851	c.2668G>T	c.(2668-2670)Ggt>Tgt	p.G890C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.G803C|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	890					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTATGCTCTGGTGGCATTTC	0.512000													11	434					1.3612e-06	6.07795e-06	0.000308642	1	0
CPAMD8	27151	broad.mit.edu	37	19	17014391	17014391	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17014391C>T	ENST00000443236.1	-	34	4622	c.4591G>A	c.(4591-4593)Gac>Aac	p.D1531N		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCAGCCGTCCCCCTTGGCA	0.617000													32	56					0	0	0.00058488	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997320	19997320	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:19997320G>A	ENST00000391403.2	-	1	558	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	152						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATTTGAGGGATTTTGACTC	0.353000													59	139					0	0	0.000781405	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995623	57995623	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:57995623G>A	ENST00000316770.2	-	1	767	c.725C>T	c.(724-726)gCc>gTc	p.A242V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTGGAGAAGGCCCGGCGGCG	0.627000													18	20					0	0	0.000566183	0	0
BEND7	222389	broad.mit.edu	37	10	13481460	13481460	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:13481460C>T	ENST00000341083.3	-	9	1415	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	BEND7_ENST00000396900.2_Silent_p.G424G|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	424	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CCGCTGCACTCCCACCCGGCA	0.532000													17	38					0	0	0.000566183	0	0
FAT4	79633	broad.mit.edu	37	4	126412334	126412334	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126412334G>A	ENST00000394329.3	+	17	14370	c.14357G>A	c.(14356-14358)gGa>gAa	p.G4786E	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTCCAGTCGGACTTTCTATT	0.532000													7	45					0	0	0.00198382	0	0
UBE2K	3093	broad.mit.edu	37	4	39739052	39739052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:39739052C>T	ENST00000261427.5	+	2	360	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	UBE2K_ENST00000445950.2_Nonsense_Mutation_p.Q26*|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000295963.6_Nonsense_Mutation_p.Q26*|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	26					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						GAGCAAAAATCAAATTAAAGT	0.318000													12	62					0	0	0.00136819	0	0
COL5A3	50509	broad.mit.edu	37	19	10089891	10089891	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10089891G>A	ENST00000264828.3	-	39	2876	c.2791C>T	c.(2791-2793)Cta>Tta	p.L931L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	931	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTTTCACCTAGAGGTCCCACT	0.602000													5	43					0	0	0.00198382	0	0
SP110	3431	broad.mit.edu	37	2	231035360	231035360	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231035360G>A	ENST00000258381.6	-	18	2082	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	SP110_ENST00000358662.4_Missense_Mutation_p.R645C	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	645	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTATGGTTGCGAAACATCAGG	0.443000													14	43					0	0	0.00074312	0	0
PUM2	23369	broad.mit.edu	37	2	20494229	20494229	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:20494229G>A	ENST00000361078.2	-	8	1082	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	PUM2_ENST00000536417.1_Missense_Mutation_p.P298S|PUM2_ENST00000403432.1_Missense_Mutation_p.P354S|PUM2_ENST00000338086.5_Missense_Mutation_p.P354S|PUM2_ENST00000319801.5_Missense_Mutation_p.P354S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	354	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTTGGCTGGATACACCCCC	0.517000													22	116					0	0	0.00047179	0	0
IRAK1	3654	broad.mit.edu	37	X	153283471	153283471	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153283471G>A	ENST00000369980.3	-	7	1062	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.R325C|IRAK1_ENST00000393687.2_Missense_Mutation_p.R299C|IRAK1_ENST00000369974.2_Missense_Mutation_p.R299C|IRAK1_ENST00000429936.2_Missense_Mutation_p.R325C	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	299	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGAGACGGTCCTCCAGG	0.632000													20	30					0	0	0.000375601	0	0
TEK	7010	broad.mit.edu	37	9	27202876	27202876	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:27202876G>A	ENST00000380036.4	+	13	2410	c.1968G>A	c.(1966-1968)gtG>gtA	p.V656V	TEK_ENST00000519097.1_Silent_p.V509V|TEK_ENST00000406359.4_Silent_p.V613V	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	656	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTCAGCTGTGATTTCTTGGA	0.348000													42	70					0	0	0.000781405	0	0
CYYR1	116159	broad.mit.edu	37	21	27852626	27852626	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:27852626C>T	ENST00000299340.4	-	3	642	c.299G>A	c.(298-300)aGg>aAg	p.R100K	AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.R100K|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	100						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGAGTCGTCCTGAGGATGCC	0.502000													11	33					0	0	0.00185496	0	0
ASS1	445	broad.mit.edu	37	9	133370318	133370318	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:133370318G>A	ENST00000372394.1	+	14	1516	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	ASS1_ENST00000372393.3_Silent_p.V345V|ASS1_ENST00000352480.5_Silent_p.V345V			P00966	ASSY_HUMAN	argininosuccinate synthase 1	345			V -> G (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGGAGCGAGTGGAAGGGAAAG	0.587000													19	33					0	0	0.00152264	0	0
BCMO1	53630	broad.mit.edu	37	16	81303789	81303789	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81303789G>A	ENST00000258168.2	+	7	1330	c.869G>A	c.(868-870)aGg>aAg	p.R290K	BCMO1_ENST00000425577.2_Missense_Mutation_p.R221K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	290					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATCGACCAAAGGACCAGGCAG	0.532000													48	79					0	0	0.000781405	0	0
MFF	56947	broad.mit.edu	37	2	228197249	228197249	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228197249G>T	ENST00000353339.3	+	5	815	c.374G>T	c.(373-375)aGa>aTa	p.R125I	MFF_ENST00000392059.1_Missense_Mutation_p.R125I|MFF_ENST00000337110.7_Missense_Mutation_p.R99I|MFF_ENST00000349901.7_Missense_Mutation_p.R99I|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409616.1_Missense_Mutation_p.R99I|MFF_ENST00000304593.9_Missense_Mutation_p.R99I|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.R99I|MFF_ENST00000409565.1_Missense_Mutation_p.R99I	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	125						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CTGAGTGAAAGACCACTAGAT	0.398000													121	747					2.17066e-49	9.75959e-49	0.000781405	1	0
INPP5F	22876	broad.mit.edu	37	10	121565915	121565915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:121565915C>T	ENST00000361976.2	+	12	1529	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	455	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGATTTTTCGTGTTAATTG	0.393000													5	15					0	0	0.000602214	0	0
SRRM2	23524	broad.mit.edu	37	16	2808509	2808509	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2808509C>A	ENST00000301740.8	+	5	1103	c.554C>A	c.(553-555)cCa>cAa	p.P185Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	185	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCAACCCCAaagcagaag	0.438000													8	210					0.000442599	0.00196049	0.000442599	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733161	56733161	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56733161G>A	ENST00000587340.1	-	7	1969	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S308F|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S424F|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S425F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S279F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	425					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTCAAGTAGGACTTCTGGGT	0.527000													11	24					0	0	0.00185496	0	0
VPS13A	23230	broad.mit.edu	37	9	79890989	79890989	+	Silent	SNP	C	C	T	rs151122313		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:79890989C>T	ENST00000360280.3	+	26	2936	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	VPS13A_ENST00000357409.5_Silent_p.I892I|VPS13A_ENST00000376634.4_Silent_p.I892I|VPS13A_ENST00000376636.3_Silent_p.I892I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	892					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGTTTTGATCGAGTTTTATC	0.323000													36	64					0	0	0.000781405	0	0
CALR3	125972	broad.mit.edu	37	19	16591507	16591507	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16591507C>T	ENST00000269881.3	-	8	991	c.929G>A	c.(928-930)gGa>gAa	p.G310E	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	310	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						AAAAATGGTTCCAGATCTCAC	0.348000													21	66					0	0	0.00121646	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392089	40392089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:40392089C>T	ENST00000406785.1	-	5	2155	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E687K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E684K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E656K|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E692K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E656K|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E692K|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E687K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E656K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E656K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	692					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCTCTTCCTCTTTGCTGGTC	0.473000													26	79					0	0	0.00106085	0	0
MUC17	140453	broad.mit.edu	37	7	100685010	100685010	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100685010C>T	ENST00000306151.4	+	3	10377	c.10313C>T	c.(10312-10314)tCa>tTa	p.S3438L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3438	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.517000													32	122					0	0	0.000692331	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208462	140208462	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140208462C>T	ENST00000529310.1	+	1	900	c.786C>T	c.(784-786)atC>atT	p.I262I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I262I|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.I262I(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTTATCAGACTGAATG	0.413000													15	85					0	0	0.000219431	0	0
EMR3	84658	broad.mit.edu	37	19	14744082	14744082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14744082C>T	ENST00000253673.5	-	12	1617	c.1517G>A	c.(1516-1518)tGg>tAg	p.W506*	EMR3_ENST00000599900.1_Nonsense_Mutation_p.W291*|EMR3_ENST00000443157.2_Nonsense_Mutation_p.W380*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.W454*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	506					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGGAAACTCCACATGAATCC	0.473000													7	22					0	0	0.000442599	0	0
DNAH1	25981	broad.mit.edu	37	3	52397079	52397079	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52397079C>T	ENST00000420323.2	+	32	5424	c.5163C>T	c.(5161-5163)tcC>tcT	p.S1721S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1721	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTCTATTCCTTTGGCTTTA	0.532000													65	142					0	0	0.000781405	0	0
KCNB1	3745	broad.mit.edu	37	20	47990818	47990818	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990818C>T	ENST00000371741.4	-	2	1445	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	427					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTGCTTTCTCCTGTCTCTTC	0.502000													33	93					0	0	0.000692331	0	0
NEBL	10529	broad.mit.edu	37	10	21120484	21120484	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:21120484T>A	ENST00000377122.4	-	15	1874	c.1478A>T	c.(1477-1479)gAa>gTa	p.E493V	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	493					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCTTTAATTTCAGTCTCCAG	0.423000													15	34					0	0	0.000422831	0	0
CASP10	843	broad.mit.edu	37	2	202074227	202074227	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:202074227G>A	ENST00000286186.6	+	9	1792	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	CASP10_ENST00000346817.5_Missense_Mutation_p.E410K|CASP10_ENST00000448480.1_Missense_Mutation_p.E410K|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.E453K|CASP10_ENST00000313728.7_Missense_Mutation_p.E386K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	453					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TCGGCATGTGGAGGAAGGCAG	0.468000													40	110					0	0	0.00222228	0	0
ETS1	2113	broad.mit.edu	37	11	128354818	128354818	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128354818G>A	ENST00000392668.3	-	7	830	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ETS1_ENST00000319397.5_Silent_p.L210L|ETS1_ENST00000345075.4_Silent_p.L210L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.1_Silent_p.L210L|ETS1_ENST00000531611.1_Silent_p.L210L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	210					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGGGTCTCGGAGAATGACCG	0.527000													23	29					0	0	0.00127121	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177721	146177721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:146177721G>A	ENST00000497985.1	-	4	629	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	113					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CTACCTGGCTGATTTTGAACA	0.527000													22	41					0	0	0.000375601	0	0
AMFR	267	broad.mit.edu	37	16	56423246	56423246	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:56423246G>A	ENST00000290649.5	-	9	1337	c.1127C>T	c.(1126-1128)cCa>cTa	p.P376L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	376					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCTGCATGTTGGACAGGAGGT	0.438000													21	39					0	0	0.00229938	0	0
LMNB2	84823	broad.mit.edu	37	19	2433975	2433975	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:2433975G>A	ENST00000325327.3	-	8	1393	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	LMNB2_ENST00000582871.1_Missense_Mutation_p.P424L			Q03252	LMNB2_HUMAN	lamin B2	424	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCAAGGGCTCCTCCAC	0.726000													33	149					0	0	0.000491102	0	0
PNLIP	5406	broad.mit.edu	37	10	118320026	118320026	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:118320026G>A	ENST00000369221.2	+	11	1187	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	387	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TAAGCAGTATGAAATTTTCAA	0.383000													10	31					0	0	0.000442599	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359453	70359453	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:70359453G>A	ENST00000305107.6	-	2	874	c.828C>T	c.(826-828)ttC>ttT	p.F276F	UGT2B4_ENST00000381096.3_Silent_p.F140F|UGT2B4_ENST00000512583.1_Silent_p.F276F|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	276					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCCTCCAACGAACTCAACAT	0.413000													13	49					0	0	0.000308642	0	0
DSG3	1830	broad.mit.edu	37	18	29039878	29039878	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29039878C>T	ENST00000257189.4	+	6	671	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	196	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAATTGCCTTCAAAATTGTCT	0.428000													13	25					0	0	0.00185496	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533695	156533695	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156533695G>T	ENST00000307851.4	-	2	1067	c.337C>A	c.(337-339)Caa>Aaa	p.Q113K	HAVCR2_ENST00000522593.1_Missense_Mutation_p.Q113K|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	113	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGGATTTGGATCCGGCAG	0.428000													11	395					0.00136819	0.00603289	0.00136819	1	0
OR2G6	391211	broad.mit.edu	37	1	248685667	248685667	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248685667C>T	ENST00000343414.4	+	1	752	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTTTGGGACCTGTTCGTCTC	0.458000													13	78					0	0	0.00185496	0	0
COL6A6	131873	broad.mit.edu	37	3	130286904	130286904	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130286904G>A	ENST00000358511.6	+	5	1888	c.1857G>A	c.(1855-1857)atG>atA	p.M619I	COL6A6_ENST00000453409.2_Missense_Mutation_p.M619I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	619	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCAAAGAGATGAAAGCTGACA	0.358000													19	51					0	0	0.00121646	0	0
SYNE1	23345	broad.mit.edu	37	6	152631852	152631852	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:152631852G>A	ENST00000367255.5	-	88	17468	c.16867C>T	c.(16867-16869)Cgt>Tgt	p.R5623C	SYNE1_ENST00000265368.4_Missense_Mutation_p.R5623C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5552C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R147C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5235C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R5552C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5623					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R5623C(2)|p.R5552C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGCAAACGAATTTTGATC	0.393000										HNSCC(10;0.0054)			17	27					0	0	0.00229938	0	0
NUMB	8650	broad.mit.edu	37	14	73753887	73753887	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:73753887G>C	ENST00000556772.1	-	3	2441	c.154C>G	c.(154-156)Cgt>Ggt	p.R52G	NUMB_ENST00000560335.1_Missense_Mutation_p.R196G|NUMB_ENST00000559312.1_Missense_Mutation_p.R196G|NUMB_ENST00000557597.1_Missense_Mutation_p.R185G|NUMB_ENST00000535282.1_Missense_Mutation_p.R185G|NUMB_ENST00000454166.4_Missense_Mutation_p.R196G|NUMB_ENST00000555394.1_Missense_Mutation_p.R196G|NUMB_ENST00000555238.1_Missense_Mutation_p.R196G|NUMB_ENST00000555738.2_Missense_Mutation_p.R185G|NUMB_ENST00000554521.2_Missense_Mutation_p.R185G|NUMB_ENST00000554546.1_Missense_Mutation_p.R185G|NUMB_ENST00000356296.4_Missense_Mutation_p.R196G|NUMB_ENST00000355058.3_Missense_Mutation_p.R196G|NUMB_ENST00000544991.3_Missense_Mutation_p.R196G|NUMB_ENST00000359560.3_Missense_Mutation_p.R185G			P49757	NUMB_HUMAN	numb homolog (Drosophila)	196	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GTTGTGACACGGAATGATCCT	0.448000													13	86					0	0	0.000422831	0	0
BCAS3	54828	broad.mit.edu	37	17	58824639	58824639	+	Splice_Site	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:58824639T>A	ENST00000589222.1	+	6	470	c.403_splice	c.e6+1	p.F134_splice	BCAS3_ENST00000390652.5_Splice_Site_p.F134_splice|BCAS3_ENST00000408905.3_Splice_Site_p.F134_splice|BCAS3_ENST00000407086.3_Splice_Site_p.F134_splice|BCAS3_ENST00000588462.1_Splice_Site_p.F134_splice			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	134						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCACAGTTTGGTGAGTGTA	0.423000													77	111					0	0	0.000781405	0	0
BNC1	646	broad.mit.edu	37	15	83932016	83932016	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:83932016C>T	ENST00000345382.2	-	4	2072	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E656K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	663					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTTGGGGTTCCATCCCAGGT	0.532000													6	31					0	0	0.00116845	0	0
OR1N2	138882	broad.mit.edu	37	9	125315566	125315566	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125315566G>A	ENST00000373688.2	+	1	176	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGGCCAGAGGAGCAGCCTCT	0.537000													14	18					0	0	0.00185496	0	0
MTF1	4520	broad.mit.edu	37	1	38288311	38288311	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:38288311A>C	ENST00000373036.4	-	9	1389	c.1249T>G	c.(1249-1251)Tta>Gta	p.L417V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	417						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAAGAGATAAAGATGCTGAA	0.512000													22	120					0	0	0.000720815	0	0
MTTP	4547	broad.mit.edu	37	4	100534201	100534201	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:100534201C>T	ENST00000457717.1	+	16	2377	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	MTTP_ENST00000511045.1_Silent_p.F734F|MTTP_ENST00000265517.5_Silent_p.F707F|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	707					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCACCTTTTTCAACGGATACA	0.473000													11	51					0	0	0.00136819	0	0
NFRKB	4798	broad.mit.edu	37	11	129752435	129752435	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:129752435C>T	ENST00000446488.3	-	9	1096	c.993G>A	c.(991-993)gaG>gaA	p.E331E	NFRKB_ENST00000304521.5_Silent_p.E331E|NFRKB_ENST00000524794.1_Silent_p.E356E|NFRKB_ENST00000524746.1_Silent_p.E331E	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	331					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CGGCCAGGTCCTCTGCCTCTG	0.468000													40	56					0	0	0.000953801	0	0
PNPLA2	57104	broad.mit.edu	37	11	823736	823736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:823736C>T	ENST00000336615.4	+	7	1002	c.800C>T	c.(799-801)gCc>gTc	p.A267V	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	267					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCCCCGCCCGCCCCCAC	0.687000													6	18					0	0	0.000157383	0	0
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51773152G>A	ENST00000251076.5	-	24	6438	c.6151C>T	c.(6151-6153)Ctt>Ttt	p.L2051F	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363000													13	96					0	0	0.00185496	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247184	142247184	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142247184C>T	ENST00000390361.3	-	0	321																											AGAGACGGATCCCTCAGGCCT	0.572000													16	30					0	0	0.000958276	0	0
MYH8	4626	broad.mit.edu	37	17	10319000	10319000	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10319000G>A	ENST00000403437.2	-	6	631	c.537C>T	c.(535-537)atC>atT	p.I179I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	179	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCACATACGTGATCAGGATGG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	18					0	0	0.000978159	0	0
CHD5	26038	broad.mit.edu	37	1	6195349	6195349	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6195349G>A	ENST00000262450.3	-	18	2910	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	937					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCATGTTCTTGAACACGTCAG	0.597000													38	108					0	0	0.000953801	0	0
TACR1	6869	broad.mit.edu	37	2	75425696	75425696	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:75425696G>A	ENST00000305249.4	-	1	1130	c.365C>T	c.(364-366)tCc>tTc	p.S122F	TACR1_ENST00000409848.3_Missense_Mutation_p.S122F	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGCCGTCATGGAGTAGATACT	0.502000													28	75					0	0	0.001512	0	0
COL15A1	1306	broad.mit.edu	37	9	101749577	101749577	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:101749577G>A	ENST00000375001.3	+	4	1073	c.648_splice	c.e4-1	p.G217_splice		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	217	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G217D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCCCAGGGCTCCCTCCAG	0.577000													69	113					0	0	0.000781405	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)		TTCTTTGGCTGGGGAGAGGAG	0.473000		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)			42	49					0	0	0.000781405	0	0
PAPLN	89932	broad.mit.edu	37	14	73720562	73720562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:73720562G>A	ENST00000427855.1	+	12	1297	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PAPLN_ENST00000554301.1_Missense_Mutation_p.E399K|PAPLN_ENST00000555445.1_Missense_Mutation_p.E399K|PAPLN_ENST00000381166.3_Missense_Mutation_p.E399K|PAPLN_ENST00000340738.5_Missense_Mutation_p.E372K			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	399	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGGCATCCAGGAGGCCGTGGA	0.692000													13	45					0	0	0.000219431	0	0
MUC13	56667	broad.mit.edu	37	3	124642388	124642388	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124642388G>A	ENST00000311075.3	-	3	658	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	207	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTACATGTAGAAGAGTTGTA	0.398000													12	49					0	0	0.000308642	0	0
PLIN5	440503	broad.mit.edu	37	19	4523691	4523691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4523691G>A	ENST00000381848.3	-	8	1321	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	414						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCTCTGCTGGGCCGGCCAGTC	0.701000													45	124					0	0	0.000781405	0	0
TMEM67	91147	broad.mit.edu	37	8	94792886	94792886	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:94792886C>T	ENST00000453321.3	+	8	838	c.780C>T	c.(778-780)taC>taT	p.Y260Y	TMEM67_ENST00000409623.3_Silent_p.Y179Y|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	260					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGAATTCTTACGACTTTGCCA	0.348000													30	175					0	0	0.00178596	0	0
CYTH1	9267	broad.mit.edu	37	17	76694376	76694376	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:76694376G>A	ENST00000589297.1	-	9	1301	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CYTH1_ENST00000361101.4_Silent_p.D262D|CYTH1_ENST00000591455.1_Silent_p.D262D|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Silent_p.D203D|CYTH1_ENST00000446868.3_Silent_p.D262D			Q15438	CYH1_HUMAN	cytohesin 1	262					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGCCTTCTCGGTCTGGATTGA	0.473000													66	101					0	0	0.000781405	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460166	107460166	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:107460166G>A	ENST00000409382.3	-	2	878	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H90Y|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H90Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	90					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.H90Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCCCCGCATGAAAGGAACCG	0.627000													26	55					0	0	0.001512	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357167	38357167	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38357167C>T	ENST00000273173.4	+	8	1588	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SLC22A14_ENST00000448498.1_Silent_p.F499F	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	499						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGTGTTCTTCCTCTACACCG	0.577000													42	133					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	2910145	2910145	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2910145G>A	ENST00000602557.1	-	51	8057	c.7502C>T	c.(7501-7503)tCc>tTc	p.S2501F	CSMD1_ENST00000542608.1_Missense_Mutation_p.S2500F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S2501F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2501F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2501F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2500F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2501	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTCCTGGGGATTCTGGGAT	0.403000													12	10					0	0	0.00185496	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322095	37322095	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37322095C>T	ENST00000262825.5	+	4	484	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CSF2RB_ENST00000403662.3_Silent_p.P89P|CSF2RB_ENST00000406230.1_Silent_p.P89P|CSF2RB_ENST00000536485.1_Silent_p.P30P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	89					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCCCATCCCCGCTGCGTGC	0.607000													19	43					0	0	0.00152264	0	0
UNC13C	440279	broad.mit.edu	37	15	54685300	54685300	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:54685300G>A	ENST00000545554.1	+	17	4768	c.4768G>A	c.(4768-4770)Gat>Aat	p.D1590N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1590N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1588N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1590					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGAATTTGGATTTTTGGCC	0.393000													4	30					0	0	0.00116845	0	0
OR8H1	219469	broad.mit.edu	37	11	56058353	56058353	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56058353G>A	ENST00000313022.2	-	1	213	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTGAGTAAGGAAAAAATACA	0.403000													69	133					0	0	0.000781405	0	0
TTC21B	79809	broad.mit.edu	37	2	166740445	166740445	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166740445C>G	ENST00000243344.7	-	26	3680	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N	TTC21B_ENST00000536175.1_Missense_Mutation_p.K119N	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1181						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCGCAATACGCTTCAGCTGGT	0.403000													26	79					0	0	0.00127121	0	0
SZT2	23334	broad.mit.edu	37	1	43896733	43896733	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43896733C>T	ENST00000562955.1	+	32	4717	c.4717C>T	c.(4717-4719)Ccc>Tcc	p.P1573S	SZT2_ENST00000372442.1_Missense_Mutation_p.P731S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1630						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTGGAGCTCCCCACGGCCTC	0.602000													12	75					0	0	0.00136819	0	0
HYDIN	54768	broad.mit.edu	37	16	70843758	70843758	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:70843758G>A	ENST00000393567.2	-	85	14961	c.14811C>T	c.(14809-14811)gtC>gtT	p.V4937V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4937										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTGCCAAGGACAGTCTGGA	0.498000													102	204					0	0	0.000781405	0	0
OR10R2	343406	broad.mit.edu	37	1	158449955	158449955	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158449955C>T	ENST00000368152.1	+	1	288	c.288C>T	c.(286-288)gtC>gtT	p.V96V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACACCTTTGTCATTCTACCCA	0.428000													26	118					0	0	0.000878237	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993982	106993982	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106993982C>T	ENST00000390624.2	-	0	261																											CCAGCCCCTTCCCTGGAGCCT	0.537000													23	89					0	0	0.000375601	0	0
NBEA	26960	broad.mit.edu	37	13	36026256	36026256	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:36026256A>C	ENST00000540320.1	+	40	6866	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T	NBEA_ENST00000400445.3_Missense_Mutation_p.K2111T|NBEA_ENST00000310336.4_Missense_Mutation_p.K2111T|NBEA_ENST00000379939.2_Missense_Mutation_p.K2108T			Q8NFP9	NBEA_HUMAN	neurobeachin	2111						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTAAAGTCAAAGAAAACATTC	0.338000													7	32					0	0	0.000274275	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763658	15763658	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15763658C>T	ENST00000221307.7	+	9	1059	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CYP4F3_ENST00000585846.1_Silent_p.L337L|CYP4F3_ENST00000591058.1_Silent_p.L337L|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.L337L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	337					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGTGGTCTCTCCTGGGTCC	0.597000											OREG0007254	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	13	56					0	0	0.00185496	0	0
SPTA1	6708	broad.mit.edu	37	1	158615343	158615343	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158615343G>A	ENST00000368148.3	-	28	4118	c.3938C>T	c.(3937-3939)tCa>tTa	p.S1313L	SPTA1_ENST00000368147.3_Missense_Mutation_p.S1313L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1313					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCTGTGATGATACCATGCC	0.448000													24	112					0	0	0.00178596	0	0
CD207	50489	broad.mit.edu	37	2	71060879	71060879	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71060879G>A	ENST00000410009.3	-	3	508	c.463C>T	c.(463-465)Cca>Tca	p.P155S		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	155					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTAACTCTGGGATTTGGGCA	0.438000													11	62					0	0	0.000978159	0	0
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23811327C>T	ENST00000314520.3	+	1	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627000													17	70					0	0	0.000566183	0	0
ITIH5	80760	broad.mit.edu	37	10	7618721	7618721	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7618721C>T	ENST00000256861.6	-	10	1751	c.1673G>A	c.(1672-1674)gGa>gAa	p.G558E	ITIH5_ENST00000298441.6_Missense_Mutation_p.G344E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.G558E|ITIH5_ENST00000446830.2_Missense_Mutation_p.G340E|ITIH5_ENST00000397146.2_Missense_Mutation_p.G558E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	558					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCTGGGGCTTCCTGTGACATC	0.582000													10	38					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179615609	179615609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179615609C>T	ENST00000360870.5	-	46	11740	c.11518G>A	c.(11518-11520)Gaa>Aaa	p.E3840K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9675							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)			ATAATTTCTTCCAGCTGTCCT	0.373000													11	65					0	0	0.00185496	0	0
TRIM60	166655	broad.mit.edu	37	4	165962219	165962219	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:165962219G>A	ENST00000512596.1	+	3	1211	c.995G>A	c.(994-996)aGa>aAa	p.R332K	TRIM60_ENST00000341062.5_Missense_Mutation_p.R332K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R332K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	332	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GACCCAAGGAGATTTTATGTC	0.418000													25	114					0	0	0.000720815	0	0
PER1	5187	broad.mit.edu	37	17	8054012	8054012	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:8054012G>A	ENST00000317276.4	-	2	250	c.13C>T	c.(13-15)Cta>Tta	p.L5L	PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Silent_p.L5L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	5					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCCCTTCTAGGGGGCCACTC	0.667000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	17					0	0	0.000157383	0	0
ZNF69	7620	broad.mit.edu	37	19	12014453	12014453	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:12014453T>C	ENST00000429654.2	+	2	269	c.129T>C	c.(127-129)atT>atC	p.I43I	ZNF69_ENST00000340180.5_Silent_p.I29I			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	43	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TGCTGGATATTTCCCAGAGGA	0.478000													18	89					0	0	0.00121646	0	0
TEX11	56159	broad.mit.edu	37	X	69773205	69773205	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:69773205C>T	ENST00000395889.2	-	28	2550	c.2395G>A	c.(2395-2397)Gct>Act	p.A799T	TEX11_ENST00000374333.2_Missense_Mutation_p.A784T|TEX11_ENST00000344304.3_Missense_Mutation_p.A799T|TEX11_ENST00000374320.2_Missense_Mutation_p.A474T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	799							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGCAATAAAGCCTTTTTCAAG	0.348000													4	9					0	0	0.00024832	0	0
LRRN1	57633	broad.mit.edu	37	3	3887687	3887687	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:3887687A>T	ENST00000319331.3	+	2	2123	c.1362A>T	c.(1360-1362)gaA>gaT	p.E454D	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	454	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTGAGCCAGAACCTGAAATTT	0.443000													24	46					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179612131	179612131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179612131G>A	ENST00000360870.5	-	46	15218	c.14996C>T	c.(14995-14997)tCt>tTt	p.S4999F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1108	Ig-like 30.						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)			GGACTTTGGAGATTCAAAATA	0.363000													10	33					0	0	0.00185496	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:151598689C>T	ENST00000362032.4	+	3	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000													17	37					0	0	0.000566183	0	0
PAQR7	164091	broad.mit.edu	37	1	26189515	26189515	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26189515C>T	ENST00000374296.3	-	2	1482	c.816G>A	c.(814-816)ggG>ggA	p.G272G	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	272			G -> R (in dbSNP:rs6689014).		cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGCCCTGCCCGAAGACAT	0.592000													23	60					0	0	0.00229938	0	0
FOLR1	2348	broad.mit.edu	37	11	71906446	71906446	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:71906446C>T	ENST00000393679.1	+	3	736	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FOLR1_ENST00000393681.2_Silent_p.F100F|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.F100F|FOLR1_ENST00000393676.3_Silent_p.F100F			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	100					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AACGGCATTTCATCCAGGACA	0.547000													59	104					0	0	0.000781405	0	0
LPHN2	23266	broad.mit.edu	37	1	82418681	82418681	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:82418681G>A	ENST00000370728.1	+	12	2438	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	LPHN2_ENST00000271029.4_Missense_Mutation_p.R598Q|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R598Q|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.R598Q|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R598Q			O95490	LPHN2_HUMAN	latrophilin 2	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCCAAAAACGAGAGAAGACA	0.403000													14	43					0	0	0.000308642	0	0
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGTGAGCTGCGAGACCTGCT	0.562000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	22					0	0	0.000157383	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445953	32445953	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32445953G>A	ENST00000266088.4	+	2	409	c.159G>A	c.(157-159)ggG>ggA	p.G53G		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	53					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCAATCGTGGGACTGTTGGAG	0.468000													96	226					0	0	0.000781405	0	0
FFAR2	2867	broad.mit.edu	37	19	35941189	35941189	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35941189C>T	ENST00000599180.1	+	2	653	c.573C>T	c.(571-573)ccC>ccT	p.P191P	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.P191P			O15552	FFAR2_HUMAN	free fatty acid receptor 2	191						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTTCATCCCCATGGCAGTCA	0.607000													47	94					0	0	0.000781405	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143753	75143753	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75143753G>A	ENST00000268099.9	-	5	522	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	138					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GATCTCTGTGGAGAAATCCTG	0.552000													10	63					0	0	0.000978159	0	0
SCN10A	6336	broad.mit.edu	37	3	38797282	38797282	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38797282C>T	ENST00000449082.2	-	10	1457	c.1458G>A	c.(1456-1458)agG>agA	p.R486R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	486					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ctcttaccatcctgcgctGGT	0.498000													40	116					0	0	0.000509022	0	0
IQCA1	79781	broad.mit.edu	37	2	237300918	237300918	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:237300918C>T	ENST00000409907.3	-	10	1560	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.R388Q|IQCA1_ENST00000309507.5_Missense_Mutation_p.R425Q			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	429	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAATTCTTTTCGTTTCTCCTC	0.368000													6	19					0	0	0.00198382	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463717	123463717	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123463717C>T	ENST00000397389.2	+	8	1436	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	OGFOD2_ENST00000538755.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000545317.1_Missense_Mutation_p.R129W|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000454694.2_Missense_Mutation_p.R129W|OGFOD2_ENST00000538628.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000545612.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000536150.1_Missense_Mutation_p.R129W|OGFOD2_ENST00000228922.7_Missense_Mutation_p.R293W	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	293	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCATGGAGCCCGGCCCTTGGG	0.682000													21	32					0	0	0.00152264	0	0
FGF7	2252	broad.mit.edu	37	15	49776615	49776615	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:49776615T>C	ENST00000267843.4	+	4	1110	c.499T>C	c.(499-501)Tta>Cta	p.L167L	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	167					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GTTTGTTGCCTTAAATCAAAA	0.353000													7	19					0	0	0.00198382	0	0
TRIM6	117854	broad.mit.edu	37	11	5626765	5626765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5626765C>T	ENST00000380097.3	+	4	1044	c.802C>T	c.(802-804)Cga>Tga	p.R268*	TRIM6_ENST00000380107.1_Nonsense_Mutation_p.R214*|TRIM6_ENST00000507320.1_Nonsense_Mutation_p.R65*|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.R268*|TRIM6_ENST00000445329.1_Nonsense_Mutation_p.R65*|TRIM6_ENST00000515022.1_Nonsense_Mutation_p.R65*|TRIM6_ENST00000278302.5_Nonsense_Mutation_p.R240*|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Nonsense_Mutation_p.R65*	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTGGAGCGTCGATGTCAGGG	0.507000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	22					0	0	0.000978159	0	0
SLC26A7	115111	broad.mit.edu	37	8	92365218	92365218	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92365218C>T	ENST00000276609.3	+	11	1547	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.I436I|SLC26A7_ENST00000309536.2_Silent_p.I436I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	436						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGATAAAATCGATTGGGTAA	0.308000													9	69					0	0	0.000274275	0	0
EIF4G1	1981	broad.mit.edu	37	3	184042702	184042702	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184042702G>A	ENST00000342981.4	+	17	3073	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	EIF4G1_ENST00000411531.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E722K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E800K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E691K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E886K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E690K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E893K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E893K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E799K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E723K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E846K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E886K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E893K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	886	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGCTGGAAGAGGCTCGGGA	0.488000													51	103					0	0	0.000781405	0	0
ABL2	27	broad.mit.edu	37	1	179079431	179079431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179079431G>A	ENST00000502732.1	-	11	2014	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	ABL2_ENST00000511413.1_Missense_Mutation_p.S604F|ABL2_ENST00000504405.1_Missense_Mutation_p.S568F|ABL2_ENST00000512653.1_Missense_Mutation_p.S589F|ABL2_ENST00000507173.1_Missense_Mutation_p.S583F|ABL2_ENST00000344730.3_Missense_Mutation_p.S589F|ABL2_ENST00000408940.3_Missense_Mutation_p.S568F|ABL2_ENST00000367623.4_Missense_Mutation_p.S583F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	604					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGCTAAACTGGAAGCAGAATT	0.453000			T	ETV6	AML								121	238					0	0	0.000781405	0	0
EPHA3	2042	broad.mit.edu	37	3	89259013	89259013	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:89259013G>A	ENST00000336596.2	+	3	382	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E53K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E53K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	53						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCTTCAGTGGGAAGAGATCAG	0.403000										TSP Lung(6;0.00050)			6	28					0	0	0.000157383	0	0
TKTL2	84076	broad.mit.edu	37	4	164394129	164394129	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:164394129G>A	ENST00000280605.3	-	1	918	c.758C>T	c.(757-759)cCa>cTa	p.P253L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	253						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCAATATTTGGAATACCCCG	0.433000													27	176					0	0	0.00127121	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215780	130215780	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:130215780G>A	ENST00000276211.5	+	2	486	c.141G>A	c.(139-141)acG>acA	p.T47T	ARHGAP36_ENST00000370922.1_Silent_p.T35T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	47					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACCGCAGGACGAAGATGGTAT	0.537000													38	81					0	0	0.000509022	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370036	20370036	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:20370036G>A	ENST00000593655.1	-	0	199																											AGTTTTGAAGGATGATGCGGA	0.423000													14	28					0	0	0.00185496	0	0
NUP210L	91181	broad.mit.edu	37	1	153999992	153999992	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:153999992G>A	ENST00000368559.3	-	29	4008	c.3937C>T	c.(3937-3939)Cat>Tat	p.H1313Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H1313Y|NUP210L_ENST00000368553.1_Missense_Mutation_p.H246Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1313						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTTGGTATGGAGTTTGAGC	0.373000													28	74					0	0	0.001512	0	0
UNC5C	8633	broad.mit.edu	37	4	96137323	96137323	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:96137323C>T	ENST00000453304.1	-	10	2033	c.1685G>A	c.(1684-1686)gGg>gAg	p.G562E	UNC5C_ENST00000506749.1_Missense_Mutation_p.G581E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	562	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTAGACTCTCCCTTGGGGAAT	0.433000													8	32					0	0	0.000978159	0	0
TRBV2	28620	broad.mit.edu	37	7	142001083	142001083	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142001083G>A	ENST00000455382.2	+	0	249																											ACAAATCTTGGGGCAGAAAGT	0.418000													10	18					0	0	0.000673444	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4662875	4662875	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:4662875T>C	ENST00000381883.2	+	1	578	c.500T>C	c.(499-501)aTg>aCg	p.M167T	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	167						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GAGGTGCTGATGAACCTGCTC	0.647000													15	45					0	0	0.000308642	0	0
PIWIL2	55124	broad.mit.edu	37	8	22146078	22146078	+	Silent	SNP	G	G	A	rs147665310		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:22146078G>A	ENST00000356766.6	+	8	1033	c.885G>A	c.(883-885)agG>agA	p.R295R	PIWIL2_ENST00000454009.2_Silent_p.R295R|PIWIL2_ENST00000521356.1_Silent_p.R295R	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	295					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.R295R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGTCAAAGGAAAACAGACA	0.373000													13	49					0	0	0.000308642	0	0
SND1	27044	broad.mit.edu	37	7	127343259	127343259	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:127343259C>T	ENST00000354725.3	+	7	916	c.722C>T	c.(721-723)cCa>cTa	p.P241L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	241	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGTGAAACTCCAGAGCCTTTT	0.488000													30	61					0	0	0.00058488	0	0
RAPH1	65059	broad.mit.edu	37	2	204359988	204359988	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:204359988G>A	ENST00000319170.5	-	2	388	c.89C>T	c.(88-90)gCc>gTc	p.A30V	RAPH1_ENST00000423104.1_Missense_Mutation_p.A30V|RAPH1_ENST00000308091.4_Missense_Mutation_p.A30V|RAPH1_ENST00000439222.1_Missense_Mutation_p.A30V|RAPH1_ENST00000374488.2_Missense_Mutation_p.A30V|RAPH1_ENST00000453034.1_Missense_Mutation_p.A30V|RAPH1_ENST00000419464.1_Missense_Mutation_p.A30V|RAPH1_ENST00000374489.2_Missense_Mutation_p.A30V|RAPH1_ENST00000374493.3_Missense_Mutation_p.A30V|RAPH1_ENST00000457812.1_Missense_Mutation_p.A30V|RAPH1_ENST00000418114.1_Missense_Mutation_p.A30V	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	30					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCAAGCCAGGCTCCAAACAT	0.413000													47	133					0	0	0.000781405	0	0
CAMK2B	816	broad.mit.edu	37	7	44281908	44281908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:44281908G>A	ENST00000395749.2	-	10	804	c.728C>T	c.(727-729)cCt>cTt	p.P243L	CAMK2B_ENST00000258682.6_Missense_Mutation_p.P243L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P114L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P243L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P243L|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P243L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P243L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P243L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P243L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	243	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TTTGGCTTCAGGAGTGACGGT	0.612000													32	77					0	0	0.000953801	0	0
KCNK18	338567	broad.mit.edu	37	10	118969466	118969466	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:118969466G>A	ENST00000334549.1	+	3	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	271						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAACCTGGATGAAGTTGGACA	0.532000													19	56					0	0	0.00229938	0	0
PGK2	5232	broad.mit.edu	37	6	49754324	49754324	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49754324C>T	ENST00000304801.3	-	1	729	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	193					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)					TAATCTAGTTCCTTCTTCATC	0.458000													17	32					0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9086131	9086131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9086131G>A	ENST00000397910.4	-	1	5887	c.5684C>T	c.(5683-5685)tCc>tTc	p.S1895F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1895	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGTCATGGAAGTGTGAGT	0.493000													11	28					0	0	0.000978159	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679102	37679102	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37679102C>T	ENST00000379800.3	-	1	701	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGAGGTCTTCGAGGCTGGGT	0.453000													18	56					0	0	0.00121646	0	0
SPACA7	122258	broad.mit.edu	37	13	113086824	113086824	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113086824G>A	ENST00000375699.3	+	5	591	c.419G>A	c.(418-420)gGa>gAa	p.G140E	SPACA7_ENST00000283550.3_Missense_Mutation_p.G171E			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	171						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CAAAATATTGGAAGATCTTCA	0.393000													15	48					0	0	0.000422831	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307245	39307245	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:39307245G>A	ENST00000541347.1	-	2	995	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CX3CR1_ENST00000358309.3_Silent_p.F284F|CX3CR1_ENST00000542107.1_Silent_p.F252F|CX3CR1_ENST00000399220.2_Silent_p.F252F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	252					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCGTCTCCAGGAAAATCATAA	0.463000													41	95					0	0	0.00170553	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798782	140798782	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140798782C>T	ENST00000398594.2	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGGTTTTCGGACAGTCAG	0.582000													14	47					0	0	0.000308642	0	0
HDAC5	10014	broad.mit.edu	37	17	42170530	42170530	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42170530G>A	ENST00000225983.6	-	6	897	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	HDAC5_ENST00000393622.2_Missense_Mutation_p.L191F|HDAC5_ENST00000586802.1_Missense_Mutation_p.L191F|HDAC5_ENST00000336057.5_Missense_Mutation_p.L191F			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	191					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCGACAAGAGGAATTCCTGG	0.617000													21	56					0	0	0.000586117	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182873548	182873548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182873548C>T	ENST00000367547.3	-	8	1590	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333K	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	524										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATCATAATTTCCTCTCTCTTT	0.363000													5	49					0	0	0.00116845	0	0
ZNF534	147658	broad.mit.edu	37	19	52938380	52938380	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52938380G>A	ENST00000332323.6	+	3	289	c.228G>A	c.(226-228)aaG>aaA	p.K76K	ZNF534_ENST00000301085.4_Silent_p.K63K|ZNF534_ENST00000433050.1_Silent_p.K63K|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TGGAGCAAAAGAGAGATCCCT	0.458000													20	34					0	0	0.00188189	0	0
STAT4	6775	broad.mit.edu	37	2	191895761	191895761	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:191895761G>A	ENST00000392320.2	-	23	2471	c.2157C>T	c.(2155-2157)ccC>ccT	p.P719P	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Silent_p.P719P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	719					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P719P(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGGAGACATGGGAAGAAGGT	0.398000													46	171					0	0	0.000781405	0	0
FGD5	152273	broad.mit.edu	37	3	14861600	14861600	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:14861600C>T	ENST00000285046.5	+	1	1132	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	FGD5_ENST00000543601.1_Missense_Mutation_p.S100F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	341					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCGTGACTTCCCTCACAGGA	0.532000													28	97					0	0	0.001512	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207424	45207424	+	Silent	SNP	C	C	T	rs114645388	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45207424C>T	ENST00000587331.1	+	4	734	c.519C>T	c.(517-519)gtC>gtT	p.V173V	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.V173V	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	173										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCCTGCCCGTCGCTCTCCGCC	0.711000													25	36					0	0	0.00106085	0	0
RNASE9	390443	broad.mit.edu	37	14	21024873	21024873	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21024873C>T	ENST00000557068.1	-	4	2081	c.356G>A	c.(355-357)aGa>aAa	p.R119K	RNASE9_ENST00000553541.1_Missense_Mutation_p.R119K|RNASE9_ENST00000555230.1_Missense_Mutation_p.R119K|RNASE9_ENST00000404716.3_Missense_Mutation_p.R124K|RNASE9_ENST00000557209.1_Missense_Mutation_p.R124K|RNASE9_ENST00000553706.1_Missense_Mutation_p.R124K|RNASE9_ENST00000429244.2_Missense_Mutation_p.R119K|RNASE9_ENST00000556208.1_Missense_Mutation_p.R124K|RNASE9_ENST00000338904.3_Missense_Mutation_p.R119K|RNASE9_ENST00000554964.1_Missense_Mutation_p.R119K			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	119						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TGGCACAAATCTGTTGTAACA	0.368000													11	33					0	0	0.000673444	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558978	36558978	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36558978G>C	ENST00000373178.4	+	6	1113	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	361						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GTGTCTTCCAGAAGAGTTGAT	0.572000													40	124					0	0	0.000509022	0	0
HTR2C	3358	broad.mit.edu	37	X	113965940	113965940	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:113965940C>T	ENST00000276198.1	+	4	1001	c.273C>T	c.(271-273)ttC>ttT	p.F91F	HTR2C_ENST00000371951.1_Silent_p.F91F|HTR2C_ENST00000371950.3_Silent_p.F91F	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	91					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.F91F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCAATTACTTCTTAATGTCCC	0.398000													17	42					0	0	0.000566183	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978672	148978672	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:148978672C>T	ENST00000434415.1	+	6	1042	c.879C>T	c.(877-879)tcC>tcT	p.S293S	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	293					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGGGGGTGTCCCGAGGCCAGA	0.647000													26	66					0	0	0.00127121	0	0
NLRP9	338321	broad.mit.edu	37	19	56249498	56249498	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56249498C>T	ENST00000332836.2	-	1	270	c.243G>A	c.(241-243)agG>agA	p.R81R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	81	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGAGATCTTTCCTATTGATCT	0.493000													188	332					0	0	0.000781405	0	0
SCN3A	6328	broad.mit.edu	37	2	165947816	165947816	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:165947816G>A	ENST00000360093.3	-	28	5338	c.4847C>T	c.(4846-4848)tCc>tTc	p.S1616F	SCN3A_ENST00000540861.1_Missense_Mutation_p.S99F|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1567F|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1616F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1616						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAGGTAGGGGACACAAAATA	0.433000													24	56					0	0	0.000720815	0	0
CSMD3	114788	broad.mit.edu	37	8	113317070	113317070	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:113317070C>T	ENST00000297405.5	-	52	8390	c.8146G>A	c.(8146-8148)Gaa>Aaa	p.E2716K	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2676K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2646K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2716	Sushi 16.					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						GTTTTGTATTCATAATGGGAG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	41					0	0	0.000157383	0	0
LY6E	4061	broad.mit.edu	37	8	144102305	144102305	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144102305G>A	ENST00000517503.1	+	2	267	c.231_splice	c.e2-1	p.D78_splice	LY6E_ENST00000521182.1_5'UTR|LY6E_ENST00000519611.1_5'UTR|LY6E_ENST00000520531.1_5'UTR|LY6E_ENST00000429120.2_5'UTR|LY6E_ENST00000522971.1_Intron|LY6E_ENST00000523847.1_5'UTR|LY6E_ENST00000522528.1_5'UTR|LY6E_ENST00000522024.1_5'UTR|LY6E_ENST00000520466.1_5'UTR|LY6E_ENST00000292494.6_5'UTR|LY6E_ENST00000521699.1_5'UTR|LY6E_ENST00000519546.1_5'UTR|LY6E_ENST00000521003.1_5'UTR			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	0	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGAGCAGGACAGGCTGCT	0.597000													6	26					0	0	0.00116845	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898678	160898678	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160898678C>T	ENST00000283243.7	-	3	731	c.525G>A	c.(523-525)ggG>ggA	p.G175G	PLA2R1_ENST00000392771.1_Silent_p.G175G	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	175	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACACGGCATCCCGTGGGTGT	0.433000													16	42					0	0	0.000422831	0	0
STIL	6491	broad.mit.edu	37	1	47755223	47755223	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47755223G>A	ENST00000360380.3	-	10	1270	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	STIL_ENST00000396221.2_Missense_Mutation_p.L303F|STIL_ENST00000243182.6_Missense_Mutation_p.L303F|STIL_ENST00000337817.5_Missense_Mutation_p.L303F|STIL_ENST00000371877.3_Missense_Mutation_p.L303F			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	303					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATAGAATAGAGAACTATGATG	0.338000													10	169					0	0	0.000978159	0	0
PCGF5	84333	broad.mit.edu	37	10	93038033	93038033	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:93038033C>T	ENST00000336126.5	+	10	963	c.731C>T	c.(730-732)cCt>cTt	p.P244L	PCGF5_ENST00000543648.1_Missense_Mutation_p.P244L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						TAGTCATACCCTATGGTACTG	0.343000													6	32					0	0	0.00198382	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658121	72658121	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:72658121G>A	ENST00000425256.1	-	0	1790					NR_002164.1																						ccagttcacggacttcactac	0.507000													11	62					0	0	0.000958276	0	0
SIK3	23387	broad.mit.edu	37	11	116719919	116719919	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:116719919G>A	ENST00000375300.1	-	21	3597	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S	SIK3_ENST00000375288.1_Missense_Mutation_p.P475S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.P979S|SIK3_ENST00000292055.4_Missense_Mutation_p.P1140S|SIK3_ENST00000446921.2_Missense_Mutation_p.P1138S|SIK3_ENST00000542607.1_Missense_Mutation_p.P1080S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1140						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGCGTGCTGGGTACCCGAGC	0.582000													160	258					0	0	0.000781405	0	0
SEPT5	5413	broad.mit.edu	37	22	19707891	19707891	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:19707891C>T	ENST00000438754.2	+	5	718	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SEPT5_ENST00000383045.3_Silent_p.F146F|SEPT5_ENST00000455784.2_Silent_p.F137F|SEPT5_ENST00000406395.1_Silent_p.F137F	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	137					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCAGTACTTCCGTGATGAGA	0.597000													21	46					0	0	0.00121646	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060851	48060851	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:48060851C>T	ENST00000316364.5	+	18	2278	c.1839C>T	c.(1837-1839)acC>acT	p.T613T	SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389433.2_Silent_p.T594T|SEMA6D_ENST00000536845.2_Silent_p.T613T|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	613					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGATTGATACCTGGAGACCTA	0.398000													5	42					0	0	0.000602214	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530902	140530902	+	Missense_Mutation	SNP	C	C	T	rs139534856		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140530902C>T	ENST00000231136.1	+	1	1064	c.1064C>T	c.(1063-1065)cCa>cTa	p.P355L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P219L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		355	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCTCATCCCAGAAAACTTA	0.468000													15	57					0	0	0.000308642	0	0
SHISA3	152573	broad.mit.edu	37	4	42403402	42403402	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:42403402C>T	ENST00000319234.4	+	2	869	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	217					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.F217L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCCAGTATTTCGCTTACCCCC	0.612000													7	57					0	0	0.000442599	0	0
PASD1	139135	broad.mit.edu	37	X	150841117	150841117	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:150841117G>A	ENST00000370357.4	+	14	2145	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	634						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCAACAGGAAGATGAGAG	0.473000													11	23					0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92087329	92087329	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92087329G>A	ENST00000298047.6	+	1	2068	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	FAT3_ENST00000409404.2_Missense_Mutation_p.R684K|FAT3_ENST00000525166.1_Missense_Mutation_p.R534K|FAT3_ENST00000541502.1_Missense_Mutation_p.R684K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	684					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)				TTCAGTTGCAGAGAAACTCGT	0.408000										TCGA Ovarian(4;0.039)			80	180					0	0	0.000781405	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743089	13743089	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:13743089T>C	ENST00000316412.5	+	2	377	c.278T>C	c.(277-279)gTt>gCt	p.V93A	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.V93A	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	93										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGGTTCGTCTCAGG	0.602000													22	12					0	0	0.00178596	0	0
COL5A2	1290	broad.mit.edu	37	2	189951477	189951477	+	Missense_Mutation	SNP	C	C	T	rs146963088		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189951477C>T	ENST00000374866.3	-	9	939	c.665G>A	c.(664-666)gGa>gAa	p.G222E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	222					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G222V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTGTGGTCCCCTTGGGCC	0.358000													5	18					0	0	0.00116845	0	0
PRSS37	136242	broad.mit.edu	37	7	141537045	141537045	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141537045C>T	ENST00000350549.3	-	4	805	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.R145Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	145	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTCAGGGTGTCGGCCTGAGGG	0.468000													29	55					0	0	0.000814825	0	0
WIPF3	644150	broad.mit.edu	37	7	29915505	29915505	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:29915505G>A	ENST00000409290.1	+	2	150	c.150G>A	c.(148-150)ttG>ttA	p.L50L	WIPF3_ENST00000242140.5_Silent_p.L50L|WIPF3_ENST00000409123.1_Silent_p.L50L	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	50										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GTGCGCTGTTGGCTGATATCC	0.562000													14	39					0	0	0.000422831	0	0
ZNF454	285676	broad.mit.edu	37	5	178392201	178392201	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:178392201C>T	ENST00000320129.3	+	5	1099	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H266Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATACTGGAGA	0.418000													18	97					0	0	0.00121646	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514273	58514273	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:58514273G>A	ENST00000370996.3	-	1	1079	c.714C>T	c.(712-714)ttC>ttT	p.F238F	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	238	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTGGAAAGCCGAAGGTGAAAA	0.687000													15	34					0	0	0.000566183	0	0
HNF4G	3174	broad.mit.edu	37	8	76465427	76465427	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:76465427G>A	ENST00000396423.2	+	5	734	c.610G>A	c.(610-612)Gat>Aat	p.D204N	HNF4G_ENST00000354370.1_Missense_Mutation_p.D167N	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	167					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCATTGGATGATCAGGTACA	0.323000													9	33					0	0	0.00185496	0	0
TEX15	56154	broad.mit.edu	37	8	30703594	30703594	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30703594G>A	ENST00000256246.2	-	1	3014	c.2940C>T	c.(2938-2940)atC>atT	p.I980I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	980										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATCACTTAGGATATTTAGGA	0.343000													38	77					0	0	0.000953801	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558813	61558813	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61558813C>T	ENST00000457692.1	+	3	468	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB2_ENST00000299502.4_Silent_p.G45G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	45					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCTACATGGGCTCCAGGGGCA	0.537000													7	17					0	0	0.000157383	0	0
HSCB	150274	broad.mit.edu	37	22	29139919	29139919	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29139919C>G	ENST00000216027.3	+	2	351	c.286C>G	c.(286-288)Caa>Gaa	p.Q96E	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.Q96E	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	96	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CAGGTACCAGCAACTGCAGCG	0.453000													48	135					0	0	0.000781405	0	0
CSRP3	8048	broad.mit.edu	37	11	19206514	19206514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:19206514C>T	ENST00000533783.1	-	6	733	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	CSRP3_ENST00000265968.3_Missense_Mutation_p.E165K	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	165	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						CAATAAAGTTCCCCATCTTTG	0.478000													6	65					0	0	0.000442599	0	0
CNTN4	152330	broad.mit.edu	37	3	3030121	3030121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:3030121G>A	ENST00000397461.1	+	13	1835	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	CNTN4_ENST00000448906.2_Missense_Mutation_p.G156E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G484E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G484E|CNTN4_ENST00000397459.2_Missense_Mutation_p.G156E|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.G265E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	484	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACCATTTTGGAACTGCTAGC	0.368000													17	58					0	0	0.000566183	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389223	140389223	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140389223G>A	ENST00000532602.1	+	4	3587	c.2554G>A	c.(2554-2556)Gga>Aga	p.G852R	PCDHA12_ENST00000398631.2_Missense_Mutation_p.G843R|PCDHA1_ENST00000504120.2_Missense_Mutation_p.G852R|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G588R|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G838R|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G587R|PCDHA13_ENST00000289272.2_Missense_Mutation_p.G852R|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G852R|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G849R|PCDHA4_ENST00000530339.1_Missense_Mutation_p.G849R|PCDHA7_ENST00000525929.1_Missense_Mutation_p.G839R|PCDHA3_ENST00000522353.2_Missense_Mutation_p.G852R|PCDHA8_ENST00000531613.1_Missense_Mutation_p.G852R|PCDHA5_ENST00000529859.1_Missense_Mutation_p.G838R|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G588R|PCDHA10_ENST00000307360.5_Missense_Mutation_p.G850R|PCDHA2_ENST00000526136.1_Missense_Mutation_p.G850R|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.G909R|PCDHA11_ENST00000398640.2_Missense_Mutation_p.G851R|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.G865R|PCDHA6_ENST00000529310.1_Missense_Mutation_p.G852R	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGAGGCAGGAGAAGTGTC	0.512000													13	59					0	0	0.000308642	0	0
HECTD1	25831	broad.mit.edu	37	14	31598187	31598187	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:31598187A>G	ENST00000399332.1	-	25	4878	c.4390T>C	c.(4390-4392)Tta>Cta	p.L1464L	HECTD1_ENST00000553700.1_Silent_p.L1464L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1464	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAGGGCCTAACTTCCTTTCA	0.453000													18	66					0	0	0.000958276	0	0
BTLA	151888	broad.mit.edu	37	3	112184974	112184974	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:112184974G>A	ENST00000334529.5	-	5	1053	c.851C>T	c.(850-852)tCc>tTc	p.S284F	BTLA_ENST00000474965.1_5'UTR|BTLA_ENST00000383680.4_Missense_Mutation_p.S236F	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	284					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CACACATATGGATGCATATTC	0.418000													18	163					0	0	0.00152264	0	0
C6orf10	10665	broad.mit.edu	37	6	32261273	32261273	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32261273C>T	ENST00000375015.4	-	26	1374	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	C6orf10_ENST00000447241.2_Missense_Mutation_p.G393R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G377R|C6orf10_ENST00000533191.1_Missense_Mutation_p.G391R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G384R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G391R			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	393						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						GCTTCCTGTCCCTTTGAGACA	0.488000													40	69					0	0	0.00128727	0	0
LIPC	3990	broad.mit.edu	37	15	58840562	58840562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:58840562G>A	ENST00000414170.3	+	7	1129	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	LIPC_ENST00000433326.2_Missense_Mutation_p.R220Q|LIPC_ENST00000299022.5_Missense_Mutation_p.R281Q|LIPC_ENST00000356113.6_Missense_Mutation_p.R281Q			P11150	LIPC_HUMAN	lipase, hepatic	281					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCCCACGAGCGATCGGTGCAC	0.572000													27	97					0	0	0.001512	0	0
HRG	3273	broad.mit.edu	37	3	186394960	186394960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:186394960C>T	ENST00000232003.4	+	7	946	c.866C>T	c.(865-867)cCc>cTc	p.P289L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	289	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CATCATCATCCCCACAAGCCA	0.557000													7	58					0	0	0.000274275	0	0
HCLS1	3059	broad.mit.edu	37	3	121361820	121361820	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121361820G>A	ENST00000314583.3	-	6	499	c.408C>T	c.(406-408)gtC>gtT	p.V136V	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.V136V	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	136					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATCAAAGCCGACTGCTGACT	0.507000													39	119					0	0	0.000509022	0	0
ZNF343	79175	broad.mit.edu	37	20	2464423	2464423	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2464423G>A	ENST00000278772.4	-	6	1671	c.1184C>T	c.(1183-1185)aCc>aTc	p.T395I	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTTTCTGAGGGTTGACTTATC	0.498000													8	28					0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196640681	196640681	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196640681C>T	ENST00000312428.6	-	60	11191	c.11091G>A	c.(11089-11091)aaG>aaA	p.K3697K	DNAH7_ENST00000409063.1_Silent_p.K180K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3697					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						GTGGCAGAGTCTTTGTGTATT	0.403000													12	57					0	0	0.00185496	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779349	135779349	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135779349G>A	ENST00000375845.3	-	2	104	c.74C>T	c.(73-75)cCa>cTa	p.P25L	MAP3K19_ENST00000375844.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P25L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P42L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P25L|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAATCAGTTGGAGAAGAGTT	0.368000													28	60					0	0	0.000491102	0	0
ZNF572	137209	broad.mit.edu	37	8	125988866	125988866	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:125988866C>T	ENST00000319286.5	+	3	510	c.356C>T	c.(355-357)gCc>gTc	p.A119V		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATACCAATGCCTGTGTCCAG	0.423000										HNSCC(60;0.17)			18	66					0	0	0.00152264	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695376	74695376	+	Silent	SNP	C	C	T	rs140354458		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:74695376C>T	ENST00000373032.3	-	4	679	c.587G>A	c.(586-588)tGa>tAa	p.*196*		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	0					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					ACTTCTTCCTCATAACTCTTC	0.502000													28	106					0	0	0.00178596	0	0
RFPL1	5988	broad.mit.edu	37	22	29837868	29837868	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29837868C>T	ENST00000354373.2	+	2	920	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	237	B30.2/SPRY.						zinc ion binding	p.F237F(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTTCCTCTTCGTAGACCGCA	0.512000													20	76					0	0	0.00178596	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156375	70156375	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:70156375C>T	ENST00000335568.5	+	5	1158	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	386					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGCAATCTACCATGGGATCCC	0.428000													9	36					0	0	0.000978159	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355751	16355751	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:16355751G>A	ENST00000375692.1	+	13	1312	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	CLCNKA_ENST00000331433.4_Missense_Mutation_p.R395Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R395Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R352Q|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	395					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TACCACCCGCGGTTCACCATC	0.637000													20	64					0	0	0.000878237	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576821	33576821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:33576821C>T	ENST00000504830.1	-	19	3645	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1019K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1104	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAACATTTTCCTCACTTGGC	0.512000										HNSCC(64;0.19)			8	35					0	0	0.000157383	0	0
TRPV6	55503	broad.mit.edu	37	7	142572886	142572886	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142572886C>T	ENST00000359396.3	-	9	1399	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	385					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCCGACCAGCCGGATATCGTC	0.562000													30	59					0	0	0.00058488	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454349	6454349	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6454349G>A	ENST00000301454.4	-	6	886	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC25A23_ENST00000414491.2_Silent_p.F77F|SLC25A23_ENST00000334510.5_Silent_p.F260F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	260					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.F260L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CATAGGCCATGAACTTGATAG	0.547000													50	147					0	0	0.000781405	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489868	50489868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50489868C>T	ENST00000267842.5	+	2	882	c.650C>T	c.(649-651)tCc>tTc	p.S217F	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.S217F	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	217					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTCACTTTTTCCACTCCTGCC	0.398000													12	54					0	0	0.000219431	0	0
PRKG2	5593	broad.mit.edu	37	4	82010918	82010918	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:82010918G>A	ENST00000395578.1	-	19	2349	c.2233C>T	c.(2233-2235)Cct>Tct	p.P745S	PRKG2_ENST00000418486.2_Missense_Mutation_p.P716S|PRKG2_ENST00000545647.1_Missense_Mutation_p.P325S|PRKG2_ENST00000264399.1_Missense_Mutation_p.P745S|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	745	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTTCAGGAGGATATTTGTCA	0.393000													8	42					0	0	0.000442599	0	0
HIPK3	10114	broad.mit.edu	37	11	33361066	33361066	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:33361066C>T	ENST00000303296.4	+	6	1904	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	HIPK3_ENST00000525975.1_Silent_p.F533F|HIPK3_ENST00000456517.1_Silent_p.F533F|HIPK3_ENST00000379016.3_Silent_p.F533F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	533					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCTAGATTTCCCTCATAGCA	0.328000													26	153					0	0	0.000720815	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901664	2901664	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:2901664C>T	ENST00000254695.8	+	14	1284	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RAP1GAP2_ENST00000540393.2_Silent_p.S379S|RAP1GAP2_ENST00000542807.1_Silent_p.S398S|RAP1GAP2_ENST00000366401.4_Silent_p.S383S	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	398	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGACCCCATCCTACAAGGTAA	0.542000													26	41					0	0	0.001512	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:44508548C>T	ENST00000260649.6	+	3	709	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_ENST00000409741.1_Silent_p.F211F|SLC3A1_ENST00000409387.1_Silent_p.F211F|SLC3A1_ENST00000409229.3_Silent_p.F211F|SLC3A1_ENST00000410056.3_Silent_p.F211F	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000													10	56					0	0	0.000673444	0	0
RHPN1	114822	broad.mit.edu	37	8	144463781	144463781	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144463781C>T	ENST00000289013.6	+	13	1629	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	535					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCGGTGGCGGCTGGTGGGGCC	0.682000													15	45					0	0	0.000566183	0	0
GPR78	27201	broad.mit.edu	37	4	8588947	8588947	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:8588947C>T	ENST00000382487.4	+	3	1366	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	317					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGAACCCCGCGCCCAGC	0.672000													12	62					0	0	0.00136819	0	0
ATXN7	6314	broad.mit.edu	37	3	63967960	63967960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:63967960C>T	ENST00000398590.3	+	7	1404	c.851C>T	c.(850-852)tCc>tTc	p.S284F	ATXN7_ENST00000295900.6_Missense_Mutation_p.S284F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S139F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S284F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S284F|ATXN7_ENST00000488239.1_3'UTR	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	284					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACTGTGAGTTCCTTAGTCAAG	0.517000													13	40					0	0	0.00185496	0	0
ZNF695	57116	broad.mit.edu	37	1	247151033	247151033	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247151033G>A	ENST00000339986.7	-	4	931	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	262					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTCAGTATGATTTTTCTCA	0.338000													18	47					0	0	0.000958276	0	0
TRPM7	54822	broad.mit.edu	37	15	50888556	50888556	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50888556G>A	ENST00000313478.7	-	23	3467	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	TRPM7_ENST00000560955.1_Silent_p.I1062I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1062					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGATTTGAGGGATAACAGAAT	0.328000													7	20					0	0	0.00198382	0	0
HPCA	3208	broad.mit.edu	37	1	33359215	33359215	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:33359215G>A	ENST00000373467.3	+	3	571	c.469G>A	c.(469-471)Gac>Aac	p.D157N	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	157	EF-hand 4.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCCAAATGGACACAAACAA	0.642000													21	39					0	0	0.00047179	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187572	7187572	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7187572C>T	ENST00000317370.8	+	6	869	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	SLC2A4_ENST00000571308.1_Silent_p.L201L|SLC2A4_ENST00000424875.2_Silent_p.L191L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	201					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CACTGCCAGCCTGTGGCCACT	0.627000													28	36					0	0	0.000491102	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174770	150174770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150174770C>T	ENST00000307271.3	+	5	2474	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	634						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCGGGTATCCCCATACACA	0.398000													19	88					0	0	0.000958276	0	0
ANO2	57101	broad.mit.edu	37	12	5941763	5941763	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:5941763C>T	ENST00000546188.1	-	5	702	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ANO2_ENST00000327087.8_Missense_Mutation_p.E210K|ANO2_ENST00000356134.5_Missense_Mutation_p.E211K			Q9NQ90	ANO2_HUMAN	anoctamin 2	215						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTTTGATCTCGTACATCTAT	0.517000													5	7					0	0	0.000602214	0	0
KIAA1429	25962	broad.mit.edu	37	8	95503874	95503874	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95503874G>A	ENST00000297591.5	-	22	5147	c.5072C>T	c.(5071-5073)tCa>tTa	p.S1691L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1691					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTATTGCCTGAAAACCCACC	0.433000													24	74					0	0	0.000375601	0	0
RBAK	57786	broad.mit.edu	37	7	5104229	5104229	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:5104229C>T	ENST00000396912.1	+	5	1661	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBAK_ENST00000353796.3_Missense_Mutation_p.S381F|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	381					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTGGGAAATCCTTCTCCCGC	0.468000													28	66					0	0	0.000491102	0	0
VCAN	1462	broad.mit.edu	37	5	82808056	82808056	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:82808056G>A	ENST00000265077.3	+	6	1448	c.883G>A	c.(883-885)Gat>Aat	p.D295N	VCAN_ENST00000343200.5_Missense_Mutation_p.D295N|VCAN_ENST00000512590.2_Missense_Mutation_p.D247N|VCAN_ENST00000502527.2_Missense_Mutation_p.D295N|VCAN_ENST00000342785.4_Missense_Mutation_p.D295N|VCAN_ENST00000513984.1_Missense_Mutation_p.D295N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	295	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGACCAGTGCGATTACGGGTG	0.602000													5	26					0	0	0.00198382	0	0
EEF2K	29904	broad.mit.edu	37	16	22262623	22262623	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:22262623C>T	ENST00000263026.5	+	6	1072	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	200	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGTATAATCGGCACAAGCC	0.612000													5	17					0	0	0.000602214	0	0
DMBT1	1755	broad.mit.edu	37	10	124390770	124390770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124390770C>T	ENST00000338354.3	+	46	6038	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1978C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698C|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1978	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGTAATCATCGTGAAGATGC	0.542000													10	85					0	0	0.000978159	0	0
ABCC9	10060	broad.mit.edu	37	12	22047080	22047080	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:22047080C>T	ENST00000261200.4	-	12	1687	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	ABCC9_ENST00000345162.2_Missense_Mutation_p.G563E|ABCC9_ENST00000261201.4_Missense_Mutation_p.G563E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	563	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATTGTTTCCACTGGCATA	0.468000													23	32					0	0	0.000720815	0	0
SSTR1	6751	broad.mit.edu	37	14	38679263	38679263	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:38679263C>T	ENST00000267377.2	+	3	1286	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	223					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGGTGGGCTTCGTGTTGTACA	0.607000													7	53					0	0	0.000274275	0	0
CPXM1	56265	broad.mit.edu	37	20	2775066	2775066	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2775066C>T	ENST00000380605.2	-	14	2039	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	659					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCAATAATCCCCGCCCCAC	0.597000													16	39					0	0	0.000958276	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													4	74					0	0	0.00024832	0	0
UBXN8	7993	broad.mit.edu	37	8	30601699	30601699	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30601699C>T	ENST00000519246.1	+	0	9							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						CCAGGCGCTTCCGCCACCATG	0.622000													6	14					0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13762882C>T	ENST00000265104.4	-	60	10334	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453000									Kartagener syndrome				16	63					0	0	0.00121646	0	0
PTH2R	5746	broad.mit.edu	37	2	209302307	209302307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:209302307G>A	ENST00000272847.2	+	3	437	c.224G>A	c.(223-225)aGa>aAa	p.R75K	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	75						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTTGGCCCAGAGGAACAGTG	0.323000													12	52					0	0	0.00185496	0	0
PLCB4	5332	broad.mit.edu	37	20	9459612	9459612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:9459612C>T	ENST00000378501.2	+	36	3556	c.3541C>T	c.(3541-3543)Ccg>Tcg	p.P1181S	PLCB4_ENST00000278655.4_Silent_p.D1168D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.D1180D|PLCB4_ENST00000378493.1_Silent_p.D1168D|PLCB4_ENST00000378473.3_Silent_p.D1180D|PLCB4_ENST00000334005.3_Missense_Mutation_p.P1181S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCGAGATGGACCGCAGACCAG	0.438000													13	27					0	0	0.000422831	0	0
FAH	2184	broad.mit.edu	37	15	80464532	80464532	+	Silent	SNP	C	C	T	rs147016995	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:80464532C>T	ENST00000539156.1	+	7	2676	c.438C>T	c.(436-438)atC>atT	p.I146I	FAH_ENST00000561421.1_Silent_p.I216I|FAH_ENST00000261755.5_Silent_p.I216I|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.I216I			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	216					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGCCGATCCCCATTTCCA	0.507000									Tyrosinemia, type 1				16	101					0	0	0.00121646	0	0
ANXA10	11199	broad.mit.edu	37	4	169098892	169098892	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:169098892G>A	ENST00000359299.3	+	7	668	c.480_splice	c.e7-1	p.G161_splice		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	161							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ACTTTACAGGGGACCAGAGAG	0.423000													10	42					0	0	0.00136819	0	0
TPO	7173	broad.mit.edu	37	2	1500405	1500405	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1500405G>A	ENST00000345913.4	+	13	2345	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N	TPO_ENST00000329066.4_Missense_Mutation_p.D752N|TPO_ENST00000349624.3_Missense_Mutation_p.D579N|TPO_ENST00000337415.3_Missense_Mutation_p.D752N|TPO_ENST00000382198.1_Missense_Mutation_p.D579N|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.D695N|TPO_ENST00000346956.3_Missense_Mutation_p.D752N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	752	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAGAATGGGGACTTTGTGCA	0.547000													53	174					0	0	0.000781405	0	0
LLGL2	3993	broad.mit.edu	37	17	73567118	73567118	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:73567118G>A	ENST00000392550.3	+	17	2230	c.2113G>A	c.(2113-2115)Gca>Aca	p.A705T	LLGL2_ENST00000167462.5_Missense_Mutation_p.A705T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A705T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	705					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCTCGCTCGGCAGAGGACTC	0.652000													51	88					0	0	0.000781405	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611521	19611521	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:19611521G>A	ENST00000361640.4	-	4	1135	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	199					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCAGAGGGTTGAAGGCA	0.582000													20	112					0	0	0.00047179	0	0
COL18A1	80781	broad.mit.edu	37	21	46916446	46916446	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46916446C>T	ENST00000359759.4	+	29	3807	c.3786C>T	c.(3784-3786)ccC>ccT	p.P1262P	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Silent_p.P847P|COL18A1_ENST00000355480.5_Silent_p.P1027P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1262	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCAGGGCCCCCAGGCCCTC	0.642000													15	87					0	0	0.00121646	0	0
TSPAN18	90139	broad.mit.edu	37	11	44931278	44931278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44931278C>T	ENST00000340160.3	+	4	325	c.86C>T	c.(85-87)gCc>gTc	p.A29V	TSPAN18_ENST00000520358.2_Missense_Mutation_p.A29V	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	29						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGCCTGCTGGCCATCGGCATC	0.657000													28	64					0	0	0.00058488	0	0
MPG	4350	broad.mit.edu	37	16	135717	135717	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:135717C>T	ENST00000219431.4	+	5	1069	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	MPG_ENST00000397817.1_Missense_Mutation_p.R263W	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	280					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTTCTATGTCCGGGGCAGCCC	0.622000								Base excision repair (BER), DNA glycosylases					15	24					0	0	0.00074312	0	0
HELZ2	85441	broad.mit.edu	37	20	62201921	62201921	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62201921G>A	ENST00000467148.1	-	3	575	c.506C>T	c.(505-507)cCc>cTc	p.P169L	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTACATCAGGGGCTGGTTGCA	0.632000													11	69					0	0	0.00136819	0	0
MUC17	140453	broad.mit.edu	37	7	100685015	100685015	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100685015C>T	ENST00000306151.4	+	3	10382	c.10318C>T	c.(10318-10320)Cct>Tct	p.P3440S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3440	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAATCGC	0.512000													44	110					0	0	0.000781405	0	0
SRCAP	10847	broad.mit.edu	37	16	30748566	30748566	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:30748566C>G	ENST00000262518.4	+	34	7590	c.7205C>G	c.(7204-7206)gCc>gGc	p.A2402G	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2244G|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2340G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2402					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTTCGTGGAGCCCGGGCTGAG	0.632000													12	39					0	0	0.000978159	0	0
PHGDH	26227	broad.mit.edu	37	1	120277283	120277283	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:120277283C>T	ENST00000369407.3	+	5	1942	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PHGDH_ENST00000369409.4_Silent_p.S179S			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	179					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCATCATTTCCCCAGAGGTCT	0.483000													182	382					0	0	0.000781405	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678030	25678030	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25678030C>T	ENST00000382051.3	+	13	1782	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R577C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R577C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	578					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCTGCAGTCTCGCTGCCCACG	0.627000			T	ROS1	NSCLC								28	103					0	0	0.000953801	0	0
MDC1	9656	broad.mit.edu	37	6	30680529	30680529	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:30680529G>A	ENST00000376406.3	-	5	1837	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S397F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	397	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GATAACCATGGAAGCTTGGCT	0.537000								Other conserved DNA damage response genes					26	47					0	0	0.00127121	0	0
GFRAL	389400	broad.mit.edu	37	6	55223835	55223835	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:55223835G>A	ENST00000340465.2	+	6	937	c.851G>A	c.(850-852)gGg>gAg	p.G284E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	284						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATATCCTTGGGACGGTCCTT	0.413000													19	30					0	0	0.00121646	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237612	26237612	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:26237612G>A	ENST00000519902.1	-	0	2336																											GCTTACCCCAGAATTTCTTCT	0.408000													24	44					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179590249	179590249	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179590249C>T	ENST00000589042.1	-	71	20906	c.20682G>A	c.(20680-20682)gtG>gtA	p.V6894V	RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V5650V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6577V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6577	Ig-like 50.						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)			TTTCTCTAATCACTTCTTCCT	0.438000													15	53					0	0	0.000422831	0	0
C11orf42	160298	broad.mit.edu	37	11	6226882	6226882	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6226882G>A	ENST00000316375.2	+	1	87	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	13										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)		GACACTGGATGAAGCTGATGC	0.572000													20	49					0	0	0.00127121	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917765	51917765	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:51917765C>T	ENST00000353836.5	-	8	1556	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	SIGLEC10_ENST00000436984.2_Silent_p.K397K|SIGLEC10_ENST00000356298.5_Silent_p.K540K|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.K482K|SIGLEC10_ENST00000432469.2_Silent_p.K362K|SIGLEC10_ENST00000525998.1_Silent_p.K355K|SIGLEC10_ENST00000339313.5_Silent_p.K540K|SIGLEC10_ENST00000442846.3_Silent_p.K297K|SIGLEC10_ENST00000441969.3_Silent_p.K387K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	445					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGAGTCCCTTCTTATCTGCAC	0.557000													15	25					0	0	0.000958276	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928523	56928523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:56928523C>T	ENST00000438926.2	+	22	2658	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.Q868*|SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.Q867*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.Q876*	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	868					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGTAGGCGGCCAGATTAACAG	0.587000													18	28					0	0	0.000375601	0	0
STK31	56164	broad.mit.edu	37	7	23768756	23768756	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23768756G>A	ENST00000354639.3	+	6	766	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	STK31_ENST00000428484.1_Missense_Mutation_p.R101Q|STK31_ENST00000433467.2_Missense_Mutation_p.R124Q|STK31_ENST00000355870.3_Missense_Mutation_p.R124Q|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	124	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTCTAAATCGATCTGATATA	0.358000													35	83					0	0	0.00111076	0	0
SLIT3	6586	broad.mit.edu	37	5	168233455	168233455	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168233455C>T	ENST00000519560.1	-	9	1350	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E311K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E311K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	311					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTACATTTCGACGATGCCC	0.582000													9	50					0	0	0.000673444	0	0
LRRC32	2615	broad.mit.edu	37	11	76370928	76370928	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76370928C>T	ENST00000407242.2	-	3	1951	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.G570E|LRRC32_ENST00000404995.1_Missense_Mutation_p.G570E|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	570						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGTGGATTCCCCTGCAGGTA	0.662000													12	26					0	0	0.000308642	0	0
GMPR2	51292	broad.mit.edu	37	14	24707806	24707806	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24707806G>A	ENST00000557854.1	+	8	1383	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	GMPR2_ENST00000420554.2_Missense_Mutation_p.G308E|GMPR2_ENST00000559910.1_Missense_Mutation_p.G257E|GMPR2_ENST00000355299.4_Missense_Mutation_p.G290E|GMPR2_ENST00000559836.1_Missense_Mutation_p.G290E|GMPR2_ENST00000559104.1_Missense_Mutation_p.G275E|GMPR2_ENST00000348719.7_Missense_Mutation_p.G351E|GMPR2_ENST00000399440.2_Missense_Mutation_p.G290E|GMPR2_ENST00000456667.3_Missense_Mutation_p.G262E			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	290					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GCCTCAGAGGGAAAGACAGTG	0.473000													15	50					0	0	0.000566183	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418273	105418273	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105418273G>A	ENST00000333244.5	-	7	3634	c.3515C>T	c.(3514-3516)tCg>tTg	p.S1172L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1172						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCCCCGAACGATGGCATCTT	0.612000													52	160					0	0	0.000781405	0	0
PGBD5	79605	broad.mit.edu	37	1	230468602	230468602	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:230468602G>A	ENST00000321327.2	-	7	1350	c.1351C>T	c.(1351-1353)Ccg>Tcg	p.P451S	PGBD5_ENST00000391860.1_Missense_Mutation_p.P306S|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352S|PGBD5_ENST00000530424.1_5'UTR			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGCTGCACCGGGGAGTAGGCG	0.632000													27	117					0	0	0.000953801	0	0
ZNF676	163223	broad.mit.edu	37	19	22363477	22363477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22363477G>A	ENST00000397121.2	-	3	1359	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.413000													11	54					0	0	0.000978159	0	0
SYT10	341359	broad.mit.edu	37	12	33559843	33559843	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33559843C>T	ENST00000228567.3	-	3	1254	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SYT10_ENST00000535526.1_Missense_Mutation_p.D139N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	320	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCAAAATCATACACACTG	0.363000													20	28					0	0	0.00121646	0	0
STON1	11037	broad.mit.edu	37	2	48809019	48809019	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:48809019C>T	ENST00000309835.3	+	1	1257	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S416F|STON1_ENST00000406226.1_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S416F|STON1_ENST00000404752.1_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S416F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S416F					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAATTTCCTTGGAAATT	0.388000													13	96					0	0	0.00185496	0	0
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:44942739C>T	ENST00000377967.4	+	23	3360	c.3319C>T	c.(3319-3321)Cct>Tct	p.P1107S	KDM6A_ENST00000543216.1_Missense_Mutation_p.P1028S|KDM6A_ENST00000536777.1_Missense_Mutation_p.P1062S|KDM6A_ENST00000382899.4_Missense_Mutation_p.P1114S	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1107	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACTAAACTTCCTGCTTTTGT	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								11	15					0	0	0.00185496	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216597	170216597	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:170216597C>A	ENST00000231706.4	-	4	933	c.618G>T	c.(616-618)ggG>ggT	p.G206G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	206						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCTTCACCCCCAGAGCAA	0.463000													21	80					5.45024e-15	2.44485e-14	0.00047179	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42164515	42164515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:42164515C>T	ENST00000444063.1	+	14	1726	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P532S|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P600S|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P600S|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P532S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	532					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGGGGCTGTCCCCCTCTCAG	0.612000													23	76					0	0	0.000491102	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137514	32137514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:32137514C>T	ENST00000312561.4	+	4	4039	c.3625C>T	c.(3625-3627)Cct>Tct	p.P1209S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		GCAGTGTTCTCCTTTGGATAC	0.423000													19	24					0	0	0.000375601	0	0
VIL1	7429	broad.mit.edu	37	2	219294066	219294066	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219294066G>A	ENST00000248444.5	+	7	714	c.626G>A	c.(625-627)gGc>gAc	p.G209D	VIL1_ENST00000440053.1_Missense_Mutation_p.G209D|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	209	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTATGTAGGCGTGGTGGAC	0.642000													29	84					0	0	0.00178596	0	0
IL27RA	9466	broad.mit.edu	37	19	14163023	14163023	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14163023C>T	ENST00000263379.2	+	14	1957	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	611					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCGCTTGACTCTGGGTATGAG	0.677000													8	20					0	0	0.000673444	0	0
CHERP	10523	broad.mit.edu	37	19	16633893	16633893	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16633893G>A	ENST00000546361.2	-	11	2101	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	CHERP_ENST00000198939.6_Silent_p.L661L|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	650	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCCCAGCAGGGAGATCGAAGT	0.612000													29	82					0	0	0.000491102	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795907	21795907	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21795907G>A	ENST00000206660.6	+	17	2836	c.2836G>A	c.(2836-2838)Gat>Aat	p.D946N	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D603N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D272N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D908N|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D946N|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D305N			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	946					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAAGGGGAAGGATACCAAGGA	0.473000													9	23					0	0	0.000274275	0	0
EPRS	2058	broad.mit.edu	37	1	220197740	220197740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:220197740G>A	ENST00000366923.3	-	8	1078	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	270	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAAATGATCCGAAGTATAAGT	0.353000													20	41					0	0	0.00121646	0	0
DEFB125	245938	broad.mit.edu	37	20	76787	76787	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:76787G>A	ENST00000382410.2	+	2	200	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	67					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATACTCGACGACCAGCATTT	0.368000													45	125					0	0	0.000781405	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791850	34791850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:34791850G>A	ENST00000299505.6	+	2	1345	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	158										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGATCAGAAGGAATTCAGTCT	0.423000													19	31					0	0	0.00229938	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265743	79265743	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:79265743G>A	ENST00000419573.3	-	26	3836	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P1172S|RASGRF1_ENST00000394745.3_Missense_Mutation_p.P404S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1190	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCAGGTAAGGGACACAGGGT	0.502000													6	38					0	0	0.000157383	0	0
STK19	8859	broad.mit.edu	37	6	31948456	31948456	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31948456C>T	ENST00000375331.2	+	7	1093	c.927C>T	c.(925-927)gtC>gtT	p.V309V	STK19_ENST00000375333.2_Silent_p.V313V	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	313						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TTAGCATGGTCCGGAAGGCAA	0.612000													29	43					0	0	0.00058488	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2341197	2341197	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:2341197G>A	ENST00000290974.2	-	4	843	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZFYVE28_ENST00000515312.1_Silent_p.F98F|ZFYVE28_ENST00000515169.1_Silent_p.F98F|ZFYVE28_ENST00000511071.1_Silent_p.F168F|ZFYVE28_ENST00000509171.1_Silent_p.F121F|ZFYVE28_ENST00000503000.1_Silent_p.F168F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	168					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CAAACTCTGCGAACAGGACGT	0.627000													5	42					0	0	0.00198382	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030358	47030358	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:47030358C>T	ENST00000450053.3	+	3	346	c.167C>T	c.(166-168)cCg>cTg	p.P56L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.P56L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	56							binding	p.P56L(1)		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)		GCAGAGGTCCCGCTGCTACCA	0.612000													29	98					0	0	0.00058488	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557802	9557802	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:9557802G>A	ENST00000408348.1	-	0	135					NR_031688.1																						GATGGATCAGGGACGAACTTT	0.378000													17	129					0	0	0.000566183	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176933	140176933	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140176933G>T	ENST00000526136.1	+	1	2384	c.2384G>T	c.(2383-2385)gGa>gTa	p.G795V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.G795V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G795V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATACGTAGGAAAGGTGAGT	0.388000													6	36					2.7689e-08	1.23777e-07	0.00198382	1	0
SLC9C2	284525	broad.mit.edu	37	1	173567128	173567128	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173567128G>A	ENST00000367714.3	-	4	694	c.272C>T	c.(271-273)tCa>tTa	p.S91L	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	91					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGAATAAAGTGAAAAACTTGA	0.303000													40	46					0	0	0.00170553	0	0
XAB2	56949	broad.mit.edu	37	19	7684837	7684837	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7684837G>A	ENST00000358368.4	-	17	2428	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	XAB2_ENST00000534844.1_Silent_p.F794F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	797					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCACCTCACGAACAGGATCT	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					28	69					0	0	0.000692331	0	0
OR14C36	127066	broad.mit.edu	37	1	248512192	248512192	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248512192G>A	ENST00000317861.1	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTCTAATGGGAAACATCCTC	0.433000													28	60					0	0	0.00178596	0	0
ATL2	64225	broad.mit.edu	37	2	38546143	38546143	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:38546143C>A	ENST00000378954.4	-	3	383	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G110C|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G128C|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G110C	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	128					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTCCACCAATCCAACTT	0.343000													10	408					0.000308642	0.00136817	0.000308642	1	0
GLI3	2737	broad.mit.edu	37	7	42065950	42065950	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:42065950G>A	ENST00000395925.3	-	8	1174	c.1090C>T	c.(1090-1092)Cta>Tta	p.L364L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	364					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTCGGCTTAGGATCTGCTGA	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	53					0	0	0.000219431	0	0
ZG16B	124220	broad.mit.edu	37	16	2881830	2881830	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2881830G>A	ENST00000382280.3	+	4	376	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ZG16B_ENST00000572863.1_Silent_p.V69V	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	99						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CCTGGGACGTGAAACTGGGAG	0.567000													19	23					0	0	0.000958276	0	0
LIPI	149998	broad.mit.edu	37	21	15538756	15538756	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:15538756C>T	ENST00000344577.2	-	5	748	c.723G>A	c.(721-723)gaG>gaA	p.E241E	LIPI_ENST00000536861.1_Silent_p.E220E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	220					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTCCCAAGGGCTCTTGAATGC	0.353000													13	63					0	0	0.000219431	0	0
NPAS4	266743	broad.mit.edu	37	11	66192568	66192568	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:66192568C>T	ENST00000311034.2	+	7	2383	c.2207C>T	c.(2206-2208)cCa>cTa	p.P736L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	736					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCAGAGGGCCCAGGAGGGGCC	0.582000													22	41					0	0	0.00229938	0	0
MARCH10	162333	broad.mit.edu	37	17	60813350	60813350	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:60813350C>T	ENST00000544856.2	-	7	2254	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.E665K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E627K|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E627K|RP11-156L14.1_ENST00000584597.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	627							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTTTCCTTTTCATCTGTGAAA	0.378000													42	59					0	0	0.000781405	0	0
EPAS1	2034	broad.mit.edu	37	2	46603707	46603707	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:46603707C>T	ENST00000263734.3	+	9	1574	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	355					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGGTGTTCTCCATGGACCAG	0.483000													18	168					0	0	0.00121646	0	0
NPAP1	23742	broad.mit.edu	37	15	24921125	24921125	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921125G>A	ENST00000329468.2	+	1	585	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGCCCGGTCGGGCTCACTCTG	0.721000													5	24					0	0	0.000602214	0	0
AIPL1	23746	broad.mit.edu	37	17	6330342	6330342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6330342C>T	ENST00000381129.3	-	4	581	c.501G>A	c.(499-501)tgG>tgA	p.W167*	AIPL1_ENST00000576307.1_Nonsense_Mutation_p.W107*|AIPL1_ENST00000570466.1_Nonsense_Mutation_p.W145*|AIPL1_ENST00000571740.1_Nonsense_Mutation_p.W159*|AIPL1_ENST00000250087.5_Nonsense_Mutation_p.W104*|AIPL1_ENST00000574506.1_Nonsense_Mutation_p.W155*|AIPL1_ENST00000576776.1_Nonsense_Mutation_p.W167*|AIPL1_ENST00000575265.1_Nonsense_Mutation_p.W167*	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	167					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGCTCAGGTTCCAGGTCTCCC	0.622000													60	106					0	0	0.000781405	0	0
TIAM1	7074	broad.mit.edu	37	21	32638597	32638597	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:32638597G>A	ENST00000286827.3	-	5	1163	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S231F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCACCCAAGGAATTGGCTCT	0.562000													16	70					0	0	0.000566183	0	0
TMEM40	55287	broad.mit.edu	37	3	12790229	12790229	+	Missense_Mutation	SNP	C	C	T	rs146477309	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:12790229C>T	ENST00000314124.7	-	3	492	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.E46K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E62K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E46K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	46						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTGTTTCTCTCATATTGTTCT	0.473000													83	250					0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170012891	170012891	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170012891C>T	ENST00000263816.3	-	65	12329	c.12044G>A	c.(12043-12045)gGg>gAg	p.G4015E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4015	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGACAAGTCCCAAATTGTTC	0.433000													18	51					0	0	0.000958276	0	0
USH1C	10083	broad.mit.edu	37	11	17531101	17531101	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:17531101G>A	ENST00000005226.7	-	18	1814	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCGGGGGAGGGATGGGAATGG	0.667000													13	12					0	0	0.00185496	0	0
ASXL3	80816	broad.mit.edu	37	18	31324134	31324134	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:31324134C>T	ENST00000269197.5	+	12	4322	c.4322C>T	c.(4321-4323)tCa>tTa	p.S1441L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACAAAAATTCAGGGCCTCGA	0.468000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	97					0	0	0.00148497	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492296	87492296	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:87492296G>A	ENST00000296595.6	-	12	1320	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	TMEM161B_ENST00000506536.1_Missense_Mutation_p.P185S|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S190F|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S388F|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S399F	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	399						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATACCCCAGGAATGATTACC	0.308000													8	26					0	0	0.000978159	0	0
PTPN11	5781	broad.mit.edu	37	12	112924331	112924331	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:112924331A>T	ENST00000351677.2	+	11	1475	c.1277A>T	c.(1276-1278)cAc>cTc	p.H426L	PTPN11_ENST00000392597.1_Missense_Mutation_p.H426L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	430	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGGCCGGACCACGGCGTGCCC	0.567000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				14	36					0	0	0.000308642	0	0
ZNF536	9745	broad.mit.edu	37	19	31039159	31039159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:31039159C>T	ENST00000355537.3	+	4	2780	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCATGTCTTCGGAGGTCCCC	0.557000													35	67					0	0	0.00170553	0	0
PXDNL	137902	broad.mit.edu	37	8	52384783	52384783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52384783C>T	ENST00000356297.4	-	8	876	c.776G>A	c.(775-777)gGa>gAa	p.G259E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	259	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTGGGGTTTCCTTCCGCCCG	0.443000													15	85					0	0	0.000566183	0	0
BBX	56987	broad.mit.edu	37	3	107491750	107491750	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:107491750G>A	ENST00000415149.2	+	11	1509	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	BBX_ENST00000325805.8_Silent_p.K394K|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Silent_p.K394K|BBX_ENST00000402543.1_Silent_p.K394K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAATTAGAAAGGAAGAGTTAG	0.318000													5	53					0	0	0.00116845	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:20521064C>T	ENST00000504154.1	+	12	1370	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	373					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000													18	62					0	0	0.00152264	0	0
DGKE	8526	broad.mit.edu	37	17	54939525	54939525	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:54939525C>T	ENST00000284061.3	+	11	1617	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	479					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGCTGGAAGTCGTTGGAGTAT	0.368000													15	54					0	0	0.000566183	0	0
DOCK6	57572	broad.mit.edu	37	19	11361648	11361648	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:11361648C>T	ENST00000294618.7	-	6	633	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	208					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCCGCCCGCTCTAGCAGAGAG	0.657000													25	59					0	0	0.000586117	0	0
ITSN2	50618	broad.mit.edu	37	2	24536370	24536370	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:24536370G>A	ENST00000355123.4	-	4	590	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ITSN2_ENST00000406921.3_Silent_p.F49F|ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.F49F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	49	EH 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGATTGTAGGAAAAAATTAC	0.328000													26	57					0	0	0.00178596	0	0
KCND2	3751	broad.mit.edu	37	7	120373011	120373011	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:120373011T>A	ENST00000331113.4	+	2	2135	c.1170T>A	c.(1168-1170)tgT>tgA	p.C390*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	390					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTCTATCTGTTCGCTGAGTG	0.413000													8	41					0	0	0.000274275	0	0
NELL1	4745	broad.mit.edu	37	11	21594829	21594829	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:21594829C>T	ENST00000298925.5	+	20	2493	c.2340C>T	c.(2338-2340)gaC>gaT	p.D780D	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.D705D|NELL1_ENST00000325319.5_Silent_p.D695D|NELL1_ENST00000357134.5_Silent_p.D752D			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	752	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGTCAGTGACCCCTGCCTAG	0.507000													11	15					0	0	0.000978159	0	0
DOK3	79930	broad.mit.edu	37	5	176931822	176931822	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176931822G>A	ENST00000312943.6	-	5	727	c.567C>T	c.(565-567)atC>atT	p.I189I	DOK3_ENST00000501403.2_Silent_p.I189I|DOK3_ENST00000377112.4_Silent_p.I87I|DOK3_ENST00000357198.4_Silent_p.I245I	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	docking protein 3	245						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCTCAGCTGGATGGCGTCTG	0.682000													12	39					0	0	0.00136819	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444573	82444573	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:82444573G>A	ENST00000268206.7	-	18	2390	c.2222C>T	c.(2221-2223)aCc>aTc	p.T741I	EFTUD1_ENST00000359445.3_Missense_Mutation_p.T690I	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	741					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTTGTTATGGTGATTAGCCC	0.428000													20	76					0	0	0.00188189	0	0
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152554096A>G	ENST00000397345.3	-	14	1421	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	407					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328000													39	119					0	0	0.000781405	0	0
CD163	9332	broad.mit.edu	37	12	7635987	7635987	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7635987C>T	ENST00000359156.4	-	12	3266	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	CD163_ENST00000396620.3_Missense_Mutation_p.E1055K|CD163_ENST00000432237.2_Missense_Mutation_p.E1022K|CD163_ENST00000541972.1_Missense_Mutation_p.E1010K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1022	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCAGCGTCTTCCTTGTGCCCA	0.522000													7	14					0	0	0.000274275	0	0
OLAH	55301	broad.mit.edu	37	10	15107691	15107691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:15107691G>A	ENST00000378217.3	+	7	857	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	OLAH_ENST00000378228.3_Missense_Mutation_p.E171K|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	171					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGAAGCCAAGGAATTTGTGAA	0.388000													18	32					0	0	0.00121646	0	0
MANSC1	54682	broad.mit.edu	37	12	12483765	12483765	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	164						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGAGATATCGGTGGGCTTTG	0.453000													25	59					0	0	0.000720815	0	0
EPHB2	2048	broad.mit.edu	37	1	23233402	23233402	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23233402G>A	ENST00000400191.3	+	11	2106	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	EPHB2_ENST00000374632.3_Missense_Mutation_p.M697I|EPHB2_ENST00000374630.3_Missense_Mutation_p.M696I|EPHB2_ENST00000374627.1_Missense_Mutation_p.M691I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	696	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCTGTGATGATCATCACCG	0.592000													17	42					0	0	0.000566183	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115659	47115659	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47115659C>T	ENST00000290341.3	+	6	865	c.531C>T	c.(529-531)ccC>ccT	p.P177P	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	177					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGGTCAGCCCCGCCAGGGCT	0.647000													16	17					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179553445	179553445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179553445G>A	ENST00000589042.1	-	126	32380	c.32156C>T	c.(32155-32157)tCc>tTc	p.S10719F	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S9475F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S10402F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10402	Glu-rich.|Pro-rich.						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)			AACTGCGAAGGATAGTTTTTC	0.373000													26	97					0	0	0.000878237	0	0
TRPM8	79054	broad.mit.edu	37	2	234847758	234847758	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234847758C>T	ENST00000324695.4	+	5	505	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TRPM8_ENST00000355722.4_Silent_p.F105F|TRPM8_ENST00000409625.1_Silent_p.F78F|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	155						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCAAGAACTTCGCCCTGAAGC	0.607000													17	42					0	0	0.000566183	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195625	18195625	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18195625C>T	ENST00000314254.3	+	1	1242	c.822C>T	c.(820-822)ttC>ttT	p.F274F	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTACTTCTTCGTGGGCTCCT	0.488000													25	80					0	0	0.000878237	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280476	47280476	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47280476G>A	ENST00000542575.2	-	6	1873	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	SLC1A5_ENST00000412532.2_Silent_p.I187I|SLC1A5_ENST00000594991.1_Silent_p.I239I|SLC1A5_ENST00000434726.2_Silent_p.I213I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	415					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGATGGTGATGATCTTTA	0.607000													20	53					0	0	0.000375601	0	0
BCAM	4059	broad.mit.edu	37	19	45322411	45322411	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45322411C>T	ENST00000391955.1	+	11	1479	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	BCAM_ENST00000270233.6_Missense_Mutation_p.P479S			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	479	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCGGCCATCCAGACCCCAA	0.592000													98	177					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34190950	34190950	+	Splice_Site	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34190950T>A	ENST00000373381.4	-	17	2871	c.2695_splice	c.e17+1	p.T899_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	859	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGACTCACTCTCATAGCGG	0.582000													16	27					0	0	0.000566183	0	0
ASTE1	28990	broad.mit.edu	37	3	130743590	130743590	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130743590C>A	ENST00000264992.3	-	3	1002	c.561G>T	c.(559-561)aaG>aaT	p.K187N	ASTE1_ENST00000514044.1_Missense_Mutation_p.K187N	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	187					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTGTGTGCCCTTAATAGTGT	0.408000													12	50					0.00010058	0.000447218	0.00136819	1	0
OR51F1	256892	broad.mit.edu	37	11	4790629	4790629	+	Missense_Mutation	SNP	C	C	T	rs149687850		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4790629C>T	ENST00000380383.1	-	1	539	c.540G>A	c.(538-540)atG>atA	p.M180I	OR51F1_ENST00000343430.3_Missense_Mutation_p.M173I|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	173						integral to membrane	olfactory receptor activity	p.M173I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAGGGCATTCATTCTACAGA	0.383000													10	58					0	0	0.000978159	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303995	151303995	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:151303995G>A	ENST00000370323.4	-	4	414	c.98C>T	c.(97-99)gCt>gTt	p.A33V	MAGEA10_ENST00000244096.3_Missense_Mutation_p.A33V|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	33										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCACAGCCAGGGGAGC	0.557000													17	18					0	0	0.000566183	0	0
MLLT4	4301	broad.mit.edu	37	6	168312016	168312016	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:168312016C>T	ENST00000366806.2	+	15	2026	c.1884C>T	c.(1882-1884)gtC>gtT	p.V628V	MLLT4_ENST00000392112.1_Silent_p.V612V|MLLT4_ENST00000351017.4_Silent_p.V628V|MLLT4_ENST00000447894.2_Silent_p.V628V|MLLT4_ENST00000344191.4_Silent_p.V628V|MLLT4_ENST00000400822.3_Silent_p.V627V|MLLT4_ENST00000392108.3_Silent_p.V628V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	628					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTCTACAGTCCACTTTAAGT	0.353000			T	MLL	AL								22	78					0	0	0.00188189	0	0
DMRT2	10655	broad.mit.edu	37	9	1053734	1053734	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:1053734C>T	ENST00000259622.6	+	2	538	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	DMRT2_ENST00000412350.2_Missense_Mutation_p.L180F|DMRT2_ENST00000358146.2_Missense_Mutation_p.L180F|DMRT2_ENST00000382251.3_Missense_Mutation_p.L180F|DMRT2_ENST00000302441.6_Missense_Mutation_p.L180F|DMRT2_ENST00000382255.3_Missense_Mutation_p.L180F			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	180					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CAAGAAGGGGCTTTCCGGGAA	0.473000													35	104					0	0	0.00170553	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766392	19766392	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:19766392G>A	ENST00000357324.6	-	10	1367	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ATP13A1_ENST00000291503.5_Silent_p.F329F|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	447					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAAGAGGATGAAGATGAAGG	0.592000													12	58					0	0	0.00185496	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747901	41747901	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:41747901G>A	ENST00000226382.2	-	3	1227	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	290					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGGCGAAGGGACCCCCAAGC	0.672000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	71					0	0	0.000720815	0	0
XPR1	9213	broad.mit.edu	37	1	180804099	180804099	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180804099G>A	ENST00000367590.4	+	10	1422	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	XPR1_ENST00000367589.3_Missense_Mutation_p.M408I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	408						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGATACTGATGGACCTGGAAT	0.438000													18	45					0	0	0.000958276	0	0
PSG8	440533	broad.mit.edu	37	19	43262317	43262317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:43262317C>T	ENST00000404209.4	-	3	642	c.546G>A	c.(544-546)atG>atA	p.M182I	PSG8_ENST00000406636.3_Missense_Mutation_p.M60I|PSG8_ENST00000306511.4_Missense_Mutation_p.M182I|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	182	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCTGACCATTCATCCACCACA	0.527000													53	109					0	0	0.000781405	0	0
OR56A3	390083	broad.mit.edu	37	11	5968724	5968724	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5968724C>T	ENST00000329564.6	+	1	155	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACCCTCCTGATGACCAT	0.607000													15	61					0	0	0.000308642	0	0
AMBRA1	55626	broad.mit.edu	37	11	46529781	46529781	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:46529781G>A	ENST00000458649.2	-	9	2717	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	AMBRA1_ENST00000533727.1_Missense_Mutation_p.P648S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P677S|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P738S|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P738S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	767					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTACTGATGGACCCTGGTTG	0.512000													7	51					0	0	0.000157383	0	0
REG4	83998	broad.mit.edu	37	1	120337248	120337248	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:120337248C>T	ENST00000354219.1	-	7	909	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Missense_Mutation_p.R157Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	157						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCTCTATGGTCGGTACTTGCA	0.428000													191	439					0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163253381	163253381	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:163253381G>A	ENST00000332142.5	-	11	2581	c.2482C>T	c.(2482-2484)Ctc>Ttc	p.L828F		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	828					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGTATGTGAGGGCTCTTACA	0.353000													8	23					0	0	0.000673444	0	0
KLHL13	90293	broad.mit.edu	37	X	117053535	117053535	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:117053535G>A	ENST00000371876.1	-	3	2787	c.366C>T	c.(364-366)ttC>ttT	p.F122F	KLHL13_ENST00000469946.1_Silent_p.F122F|KLHL13_ENST00000539496.1_Silent_p.F176F|KLHL13_ENST00000371878.1_Silent_p.F122F|KLHL13_ENST00000545703.1_Silent_p.F131F|KLHL13_ENST00000540167.1_Silent_p.F157F|KLHL13_ENST00000541812.1_Silent_p.F157F|KLHL13_ENST00000262820.3_Silent_p.F173F|KLHL13_ENST00000371882.1_Silent_p.F122F			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	173	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAATCTGTAGGAAACTGGCAG	0.383000													30	43					0	0	0.00178596	0	0
FRMD7	90167	broad.mit.edu	37	X	131228089	131228089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:131228089C>T	ENST00000298542.4	-	5	538	c.363G>A	c.(361-363)atG>atA	p.M121I	FRMD7_ENST00000464296.1_Missense_Mutation_p.M106I|FRMD7_ENST00000370879.1_Start_Codon_SNP_p.M1I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	121	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGTGAGATACCATCAACGCTG	0.443000													24	37					0	0	0.00178596	0	0
PPIL3	53938	broad.mit.edu	37	2	201747152	201747152	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:201747152A>T	ENST00000392283.4	-	4	353	c.85T>A	c.(85-87)Ttg>Atg	p.L29M	PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000286175.8_Intron|PPIL3_ENST00000409361.1_Intron	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	29	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						CAAAGAGCCAAGAAATTCTGA	0.358000													44	128					0	0	0.000781405	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731113	140731113	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140731113C>T	ENST00000523390.1	+	1	1286	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCTTTCCTCCAGGACA	0.517000													7	39					0	0	0.000274275	0	0
ARMC3	219681	broad.mit.edu	37	10	23319702	23319702	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:23319702G>A	ENST00000298032.5	+	17	2307	c.2223G>A	c.(2221-2223)aaG>aaA	p.K741K	ARMC3_ENST00000376528.4_Silent_p.K478K|ARMC3_ENST00000409983.3_Silent_p.K734K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	741							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAATATTAAGGAACAGATTG	0.343000													5	31					0	0	0.000602214	0	0
DNAH9	1770	broad.mit.edu	37	17	11597700	11597700	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11597700G>A	ENST00000262442.3	+	22	4876	c.4808G>A	c.(4807-4809)cGg>cAg	p.R1603Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1603Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCTTCCCGCGGTTTTACTTT	0.517000													21	21					0	0	0.00047179	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056964	102056964	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:102056964G>A	ENST00000318222.3	-	6	1340	c.956_splice	c.e6-1	p.L320_splice	PKD2L1_ENST00000338519.3_Splice_Site_p.L245_splice|PKD2L1_ENST00000353274.3_Splice_Site_p.L320_splice	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	320					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCACCACCAGCCTATAGGGG	0.582000													9	28					0	0	0.000274275	0	0
TNN	63923	broad.mit.edu	37	1	175066590	175066590	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175066590G>A	ENST00000239462.4	+	8	1739	c.1626G>A	c.(1624-1626)gtG>gtA	p.V542V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	542	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGACCGGGTGACTGAGAATA	0.512000													8	28					0	0	0.000274275	0	0
ZNF35	7584	broad.mit.edu	37	3	44692679	44692679	+	Silent	SNP	C	C	T	rs143301932	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:44692679C>T	ENST00000396056.2	+	2	355	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_Silent_p.S40S|ZNF35_ENST00000453164.1_Silent_p.S40S|ZNF35_ENST00000399560.2_Silent_p.S40S|ZNF35_ENST00000542250.1_5'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	40	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAGTGCACTCCGAGAACATCA	0.552000													13	53					0	0	0.000219431	0	0
HSPG2	3339	broad.mit.edu	37	1	22170655	22170655	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22170655G>A	ENST00000374695.3	-	65	8681	c.8602C>T	c.(8602-8604)Cct>Tct	p.P2868S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2868	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCGGGCAGGGAGGTTTCCT	0.632000													24	82					0	0	0.000720815	0	0
CTAGE5	4253	broad.mit.edu	37	14	39815129	39815129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:39815129C>T	ENST00000553728.1	+	25	3671	c.3458C>T	c.(3457-3459)gCc>gTc	p.A1153V	CTAGE5_ENST00000553352.1_Missense_Mutation_p.A589V|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A589V|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A623V|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A618V|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A538V|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A618V|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A589V|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A575V|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A543V|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A606V																							CCTGATTCAGCCCTTCCTCCA	0.323000													9	44					0	0	0.000274275	0	0
DOCK3	1795	broad.mit.edu	37	3	51393678	51393678	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51393678G>A	ENST00000266037.9	+	42	4431	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1470	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGGAGAATGAATTCAAGGT	0.488000													11	25					0	0	0.000673444	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003966	34003966	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:34003966C>T	ENST00000382491.3	-	28	4044	c.3920G>A	c.(3919-3921)aGg>aAg	p.R1307K	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R1393K|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R1354K|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1354	Pro-rich.						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						CTGAATCAACCTCTTTGGGTC	0.448000													10	58					0	0	0.000673444	0	0
DUOX1	53905	broad.mit.edu	37	15	45440112	45440112	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45440112G>A	ENST00000321429.4	+	21	2966	c.2559G>A	c.(2557-2559)gaG>gaA	p.E853E	DUOX1_ENST00000561166.1_Silent_p.E499E|DUOX1_ENST00000389037.3_Silent_p.E853E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	853	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTCTCCTGAGGAAAAGTCTC	0.557000													24	80					0	0	0.001512	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426513	6426513	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:6426513G>A	ENST00000449001.2	+	7	1199	c.705G>A	c.(703-705)gtG>gtA	p.V235V	PLEKHG6_ENST00000536531.1_Silent_p.V267V|PLEKHG6_ENST00000011684.7_Silent_p.V267V|PLEKHG6_ENST00000396988.3_Silent_p.V267V	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	267	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCTCCGAGTGAAGCAGACCA	0.597000													12	37					0	0	0.000308642	0	0
HTT	3064	broad.mit.edu	37	4	3176451	3176451	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3176451G>C	ENST00000355072.5	+	32	4315	c.4170G>C	c.(4168-4170)tgG>tgC	p.W1390C		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1390					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGCAGATGGTTTGATGTCC	0.418000													15	74					0	0	0.000308642	0	0
FLG	2312	broad.mit.edu	37	1	152277644	152277644	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152277644G>A	ENST00000368799.1	-	3	9753	c.9718C>T	c.(9718-9720)Cgt>Tgt	p.R3240C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3240	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGATCCACGATGGTTTCTG	0.592000									Ichthyosis				50	111					0	0	0.000781405	0	0
FLNC	2318	broad.mit.edu	37	7	128483361	128483361	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128483361C>T	ENST00000325888.8	+	17	2890	c.2629C>T	c.(2629-2631)Ctg>Ttg	p.L877L	FLNC_ENST00000346177.6_Silent_p.L877L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	877					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCCCTGGGCTGAATCGCAC	0.642000													11	15					0	0	0.000978159	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142163	78142163	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78142163G>A	ENST00000216489.3	-	5	591	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	192					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGTCAGAAGGGAAAGGTGTGT	0.418000													8	43					0	0	0.000274275	0	0
CSF1R	1436	broad.mit.edu	37	5	149449570	149449570	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149449570C>T	ENST00000286301.3	-	10	1667	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	459	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCTCCTGGCTCAGGACCTC	0.592000													10	54					0	0	0.00185496	0	0
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438000													12	56					0	0	0.00136819	0	0
BCAN	63827	broad.mit.edu	37	1	156622571	156622571	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156622571C>T	ENST00000329117.4	+	8	2165	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P610L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	610					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGAGGCCCCCTCTGAAGAT	0.662000													9	27					0	0	0.000274275	0	0
PTPRC	5788	broad.mit.edu	37	1	198665949	198665949	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:198665949C>T	ENST00000367376.2	+	4	374	c.203C>T	c.(202-204)tCa>tTa	p.S68L	PTPRC_ENST00000442510.2_Missense_Mutation_p.S70L|PTPRC_ENST00000352140.3_Missense_Mutation_p.S68L|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	68					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATGACTTCTCAGAGACCACA	0.463000													12	72					0	0	0.00185496	0	0
RHEB	6009	broad.mit.edu	37	7	151167708	151167708	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151167708C>G	ENST00000262187.5	-	7	823	c.411G>C	c.(409-411)ttG>ttC	p.L137F	RHEB_ENST00000496004.1_Missense_Mutation_p.L32F|RHEB_ENST00000472642.1_Missense_Mutation_p.L32F	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	137					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.L137F(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AAGATTCTGCCAAAGCTTTCC	0.318000													10	86					0	0	0.000673444	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529184	6529184	+	Missense_Mutation	SNP	C	C	T	rs113541584		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:6529184C>T	ENST00000377748.1	-	20	2895	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E792K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E802K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E800K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E760K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E723K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E723K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E779K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E723K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	779					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		tcctcgccttcctcctcctcc	0.637000													31	57					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179596173	179596173	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179596173C>T	ENST00000589042.1	-	59	17544	c.17320G>A	c.(17320-17322)Gat>Aat	p.D5774N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4530N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5457N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5457	Ig-like 38.						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)			CTTATATTATCGTCTTCAGTG	0.478000													22	47					0	0	0.00152264	0	0
MKRN3	7681	broad.mit.edu	37	15	23811677	23811677	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23811677G>A	ENST00000314520.3	+	1	1224	c.748G>A	c.(748-750)Gga>Aga	p.G250R	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	250						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTCCAGGGGAGTTTGCTT	0.567000													10	38					0	0	0.000978159	0	0
NFXL1	152518	broad.mit.edu	37	4	47901422	47901422	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:47901422G>A	ENST00000507489.1	-	6	967	c.791C>T	c.(790-792)cCt>cTt	p.P264L	NFXL1_ENST00000329043.3_Missense_Mutation_p.P264L|NFXL1_ENST00000381538.3_Missense_Mutation_p.P264L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	264						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGGCCACAAGGAGGTTTAAA	0.378000													16	41					0	0	0.00121646	0	0
GPR158	57512	broad.mit.edu	37	10	25887483	25887483	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:25887483G>A	ENST00000376351.3	+	11	3287	c.2928G>A	c.(2926-2928)atG>atA	p.M976I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	976						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGATTATGAAACAACAAA	0.488000													16	71					0	0	0.000308642	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859837	6859837	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:6859837C>T	ENST00000419673.2	+	4	407	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	ARHGAP28_ENST00000383472.4_Silent_p.L223L|ARHGAP28_ENST00000532996.1_Silent_p.L46L|ARHGAP28_ENST00000400091.2_Silent_p.L223L|ARHGAP28_ENST00000314319.3_Silent_p.L64L|ARHGAP28_ENST00000531294.1_Silent_p.L59L|ARHGAP28_ENST00000418986.1_Silent_p.L64L|ARHGAP28_ENST00000262227.3_Silent_p.L171L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	46					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CAGTACTACCCTGTCTGACGC	0.428000													27	175					0	0	0.001512	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926695	157926695	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157926695G>T	ENST00000389413.3	-	9	1333	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	PTPRN2_ENST00000404321.2_Silent_p.L433L|PTPRN2_ENST00000389416.4_Silent_p.L393L|PTPRN2_ENST00000389418.4_Silent_p.L410L|PTPRN2_ENST00000409483.1_Silent_p.L372L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	410						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCAGGTAAGAGTCGAGACC	0.602000													8	65					1.26484e-09	5.66507e-09	0.000157383	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559713	44559713	+	Missense_Mutation	SNP	C	C	T	rs143582553		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44559713C>T	ENST00000332567.4	-	1	2275	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	641	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGAAACAGATCATCTTTGCCT	0.537000													19	171					0	0	0.000375601	0	0
MGA	23269	broad.mit.edu	37	15	42057156	42057156	+	Missense_Mutation	SNP	C	C	T	rs35259215		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:42057156C>T	ENST00000219905.7	+	23	7998	c.7817C>T	c.(7816-7818)aCc>aTc	p.T2606I	MGA_ENST00000545763.1_Missense_Mutation_p.T2397I|MGA_ENST00000566586.1_Missense_Mutation_p.T2397I|MGA_ENST00000389936.4_Missense_Mutation_p.T2567I|MGA_ENST00000570161.1_Missense_Mutation_p.T2606I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2567						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAATTGCTCACCCTAAAAGGT	0.458000													19	90					0	0	0.00074312	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987019	89987019	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89987019C>T	ENST00000491977.1	+	0	330																											CACTGAAAATCAGCCGGGTGG	0.517000													6	57					0	0	0.000274275	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939637	12939637	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12939637C>T	ENST00000235349.5	-	4	1235	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGATTTCCACAGAAGCTG	0.527000													63	279					0	0	0.000781405	0	0
LUM	4060	broad.mit.edu	37	12	91502681	91502681	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:91502681G>A	ENST00000266718.4	-	2	530	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	26					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATTGATAGGGGAAAATCATAA	0.413000													13	27					0	0	0.00185496	0	0
TRIM71	131405	broad.mit.edu	37	3	32932358	32932358	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:32932358C>T	ENST00000383763.4	+	4	1725	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	554					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTACCGACCCCAGCTGGAGG	0.577000													19	44					0	0	0.00121646	0	0
KCNN4	3783	broad.mit.edu	37	19	44278600	44278600	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:44278600C>T	ENST00000262888.3	-	3	822	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	143					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCCAGGAATCCCGGCCAGGGC	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	1					0	0	0.00024832	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175243	45175243	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:45175243A>C	ENST00000358777.4	+	1	520	c.40A>C	c.(40-42)Agc>Cgc	p.S14R	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S14R	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	14						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTCTCAAAGAGCCTCCTGCT	0.547000													27	58					0	0	0.00209593	0	0
HRSP12	10247	broad.mit.edu	37	8	99120894	99120894	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:99120894C>A	ENST00000254878.3	-	2	295	c.151G>T	c.(151-153)Gta>Tta	p.V51L		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	51					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TCTTCTGCTACCCCTCCTGAC	0.403000													18	82					1.28384e-07	5.73471e-07	0.00188189	1	0
KCNS1	3787	broad.mit.edu	37	20	43723895	43723895	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:43723895C>T	ENST00000306117.1	-	5	1593	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	KCNS1_ENST00000537075.1_Silent_p.K399K	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	399						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CGTCCTCCTCCTTTTCAGCTG	0.582000													12	34					0	0	0.00185496	0	0
NTM	50863	broad.mit.edu	37	11	132016308	132016308	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:132016308C>T	ENST00000374786.1	+	2	779	c.300C>T	c.(298-300)atC>atT	p.I100I	NTM_ENST00000374791.3_Silent_p.I100I|NTM_ENST00000539799.1_Silent_p.I100I|NTM_ENST00000374784.1_Silent_p.I100I|NTM_ENST00000425719.2_Silent_p.I100I|NTM_ENST00000427481.2_Silent_p.I91I	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	100	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTACAGCATCGAGATCCAGA	0.557000													13	30					0	0	0.00136819	0	0
REST	5978	broad.mit.edu	37	4	57797279	57797279	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:57797279C>T	ENST00000309042.7	+	4	2569	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	752	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTCTCCTCCCATGGAGGTG	0.557000													49	250					0	0	0.000781405	0	0
GATA4	2626	broad.mit.edu	37	8	11615832	11615832	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:11615832G>A	ENST00000335135.4	+	7	1735	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	GATA4_ENST00000532059.1_Missense_Mutation_p.G394R|GATA4_ENST00000528712.1_Missense_Mutation_p.G187R	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	393					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GTCTGGCCATGGGCCCTCCAT	0.612000													24	138					0	0	0.000878237	0	0
FAM114A1	92689	broad.mit.edu	37	4	38942609	38942609	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:38942609C>T	ENST00000358869.2	+	14	1733	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	FAM114A1_ENST00000515037.1_Silent_p.V312V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	519						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGCCGAGGTCCTTAACCCCA	0.388000													13	55					0	0	0.000566183	0	0
CLCN1	1180	broad.mit.edu	37	7	143028350	143028350	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143028350C>T	ENST00000343257.2	+	9	1092	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	335					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTTCAGAACCAATTTCCGAA	0.507000													16	91					0	0	0.00121646	0	0
OR2A25	392138	broad.mit.edu	37	7	143771857	143771857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143771857C>T	ENST00000408898.2	+	1	583	c.545C>T	c.(544-546)gCt>gTt	p.A182V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATTATGGCTGTTCTCAAA	0.448000													24	148					0	0	0.000586117	0	0
MUC17	140453	broad.mit.edu	37	7	100681473	100681473	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100681473C>T	ENST00000306151.4	+	3	6840	c.6776C>T	c.(6775-6777)tCa>tTa	p.S2259L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2259	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCATCTCCTACA	0.507000													32	171					0	0	0.00111076	0	0
ADAD2	161931	broad.mit.edu	37	16	84224894	84224894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:84224894G>A	ENST00000268624.3	+	1	151	c.58G>A	c.(58-60)Gct>Act	p.A20T	ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.A20T	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	20					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCCCGCCTGGCTGCATCGTT	0.711000													16	13					0	0	0.000958276	0	0
HSPB7	27129	broad.mit.edu	37	1	16342200	16342200	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:16342200C>T	ENST00000311890.9	-	3	1214	c.388G>A	c.(388-390)Gag>Aag	p.E130K	HSPB7_ENST00000375718.4_Missense_Mutation_p.E205K|HSPB7_ENST00000487046.1_Missense_Mutation_p.E135K|HSPB7_ENST00000406363.2_Missense_Mutation_p.E134K|HSPB7_ENST00000411503.1_Missense_Mutation_p.E125K	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	130					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACGTCCTCCGGCAGCTGG	0.677000													24	106					0	0	0.00106085	0	0
OR10G8	219869	broad.mit.edu	37	11	123901097	123901097	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123901097C>T	ENST00000431524.1	+	1	801	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGTCTTTTCATTTACCTGA	0.557000													14	29					0	0	0.000308642	0	0
ITGAD	3681	broad.mit.edu	37	16	31421715	31421715	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:31421715G>A	ENST00000389202.2	+	11	1132		c.e11-1			NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTCCTCCCAGGATGGCCTCT	0.577000													23	59					0	0	0.000586117	0	0
GAD2	2572	broad.mit.edu	37	10	26558051	26558051	+	Silent	SNP	G	G	A	rs149629039	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26558051G>A	ENST00000376261.3	+	9	1427	c.924G>A	c.(922-924)ggG>ggA	p.G308G	GAD2_ENST00000259271.3_Silent_p.G308G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCCAGAGGGAAAATGATTC	0.403000													9	71					0	0	0.000673444	0	0
FAM131B	9715	broad.mit.edu	37	7	143053666	143053666	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143053666C>T	ENST00000409408.1	-	6	2684	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E342K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E326K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E354K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E326K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	326										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCGCCTTCCTCCTCATCAAAG	0.597000													18	98					0	0	0.00121646	0	0
EBF2	64641	broad.mit.edu	37	8	25715986	25715986	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:25715986C>T	ENST00000520164.1	-	14	1914	c.1377G>A	c.(1375-1377)cgG>cgA	p.R459R	EBF2_ENST00000535548.1_Silent_p.R190R|EBF2_ENST00000408929.3_Silent_p.R311R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	459	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAGAGTATCCCCGCGGAGAGA	0.522000													10	55					0	0	0.000978159	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155778	173155778	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:173155778C>T	ENST00000281834.3	-	3	565	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TNFSF4_ENST00000367718.1_Silent_p.L93L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	143					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CTTTGTAAGTCAGAGAGGCCA	0.463000													7	61					0	0	0.000274275	0	0
TPH1	7166	broad.mit.edu	37	11	18047216	18047216	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18047216G>A	ENST00000250018.2	-	7	1398	c.836C>T	c.(835-837)cCg>cTg	p.P279L	TPH1_ENST00000341556.2_Missense_Mutation_p.P279L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	279					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGCCAAAAGCGGGACATGACC	0.443000													21	41					0	0	0.00188189	0	0
TRPC3	7222	broad.mit.edu	37	4	122846228	122846228	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:122846228C>T	ENST00000264811.5	-	2	1320	c.902G>A	c.(901-903)aGg>aAg	p.R301K	TRPC3_ENST00000379645.3_Missense_Mutation_p.R374K|TRPC3_ENST00000513531.1_Missense_Mutation_p.R301K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	289					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCTTTGTGCCTGTGTACCTC	0.448000													40	143					0	0	0.000781405	0	0
HMBOX1	79618	broad.mit.edu	37	8	28866603	28866603	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28866603C>T	ENST00000397358.3	+	6	1305	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	HMBOX1_ENST00000519047.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R201W|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R201W|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R201W|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R201W	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	201					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CAGTCAGAGCCGGATCTCTCA	0.423000													21	108					0	0	0.00229938	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536077	38536077	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:38536077G>A	ENST00000332509.3	-	5	892	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R237C|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R237C	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	237					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCAGCACGCGGACCATCTCC	0.612000													11	41					0	0	0.000978159	0	0
PAQR7	164091	broad.mit.edu	37	1	26189516	26189516	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26189516C>T	ENST00000374296.3	-	2	1481	c.815G>A	c.(814-816)gGg>gAg	p.G272E	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	272			G -> R (in dbSNP:rs6689014).		cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCCCTGCCCGAAGACATG	0.592000													24	60					0	0	0.000375601	0	0
HK3	3101	broad.mit.edu	37	5	176316426	176316426	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176316426G>A	ENST00000292432.5	-	8	961	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	290	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTATGGTCGAAGGTGGTCA	0.632000													14	55					0	0	0.00074312	0	0
HMGN1	3150	broad.mit.edu	37	21	40715008	40715008	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:40715008G>A	ENST00000361263.4	-	3	905	c.224C>T	c.(223-225)cCc>cTc	p.P75L	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380747.1_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				AGGGAGACAGGGACCACTGAT	0.368000													10	29					0	0	0.000442599	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922179	159922179	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159922179G>A	ENST00000368093.3	-	3	653	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	179	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCTTCATGGAATGTATAAG	0.587000													11	75					0	0	0.00185496	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046866	76046866	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:76046866C>T	ENST00000335749.4	+	3	2292	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	TNRC6C_ENST00000588061.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P575S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P575S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P575S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	575	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGTGAGCCTCCAAAGCCCAA	0.557000													13	27					0	0	0.00185496	0	0
ARPP21	10777	broad.mit.edu	37	3	35781015	35781015	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35781015C>T	ENST00000187397.4	+	17	2307	c.1851C>T	c.(1849-1851)gtC>gtT	p.V617V	ARPP21_ENST00000337271.5_Silent_p.V598V|ARPP21_ENST00000417925.1_Silent_p.V618V|ARPP21_ENST00000458225.1_Silent_p.V618V|ARPP21_ENST00000444190.1_Silent_p.V598V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	617	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAGCAGGTCCTCCAGCCCC	0.602000													10	41					0	0	0.000978159	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	C	T	rs150366522		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248512475C>T	ENST00000317861.1	+	1	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000													15	33					0	0	0.000308642	0	0
ALG6	29929	broad.mit.edu	37	1	63862189	63862189	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63862189G>T	ENST00000371108.4	+	3	393	c.88G>T	c.(88-90)Ggt>Tgt	p.G30C	ALG6_ENST00000263440.4_Missense_Mutation_p.G30C	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	30					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTTAGGTGCTGGTAAACCGCC	0.328000													9	143					2.17888e-05	9.70296e-05	0.000442599	1	0
ANKRD1	27063	broad.mit.edu	37	10	92677504	92677504	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:92677504G>A	ENST00000371697.3	-	5	785	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	179					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACGGAATTCGATCTGGGCTC	0.418000													14	36					0	0	0.000308642	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990026	56990026	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:56990026G>A	ENST00000371250.3	-	3	1049	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	166					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGATCTGGCTGAAATCAGGGT	0.527000													41	91					0	0	0.000680045	0	0
STIL	6491	broad.mit.edu	37	1	47716973	47716973	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47716973C>T	ENST00000360380.3	-	18	4062	c.3699G>A	c.(3697-3699)ggG>ggA	p.G1233G	STIL_ENST00000396221.2_Silent_p.G1216G|STIL_ENST00000243182.6_Silent_p.G1233G|STIL_ENST00000337817.5_Silent_p.G1233G|STIL_ENST00000371877.3_Silent_p.G1234G			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1233					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTCTGCTTTCCCGGTTCGAA	0.398000													80	154					0	0	0.000781405	0	0
F7	2155	broad.mit.edu	37	13	113772738	113772738	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113772738C>T	ENST00000375581.3	+	9	852	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	F7_ENST00000541084.1_Missense_Mutation_p.L204F|F7_ENST00000346342.3_Missense_Mutation_p.L251F	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	273	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACCTCAGCGAGCA	0.662000													16	58					0	0	0.000958276	0	0
MINK1	50488	broad.mit.edu	37	17	4797353	4797353	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4797353C>T	ENST00000355280.6	+	22	2831	c.2635C>T	c.(2635-2637)Ccc>Tcc	p.P879S	MINK1_ENST00000453408.3_Missense_Mutation_p.P859S|MINK1_ENST00000347992.7_Missense_Mutation_p.P850S	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	879	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CGGGACCCAGCCCCCATACGG	0.667000													9	10					0	0	0.000274275	0	0
PRUNE	58497	broad.mit.edu	37	1	151006643	151006643	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151006643C>T	ENST00000271620.3	+	8	1451	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	PRUNE_ENST00000368935.1_Missense_Mutation_p.A147V|PRUNE_ENST00000368936.1_Missense_Mutation_p.A250V|PRUNE_ENST00000368937.1_Missense_Mutation_p.A197V|PRUNE_ENST00000368934.1_Missense_Mutation_p.A197V|PRUNE_ENST00000271619.8_Missense_Mutation_p.A220V	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	432						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTGAGGCCGTCTTCGAG	0.577000													28	140					0	0	0.000491102	0	0
SZT2	23334	broad.mit.edu	37	1	43882302	43882302	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43882302C>T	ENST00000562955.1	+	7	869	c.869C>T	c.(868-870)tCc>tTc	p.S290F		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	290						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGGCTTGTTCCTTTGTCCAG	0.488000													5	18					0	0	0.000602214	0	0
FTCD	10841	broad.mit.edu	37	21	47570436	47570436	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47570436C>T	ENST00000397748.1	-	6	683	c.640G>A	c.(640-642)Gga>Aga	p.G214R	FTCD_ENST00000397746.3_Missense_Mutation_p.G214R|FTCD_ENST00000291670.5_Missense_Mutation_p.G214R|FTCD_ENST00000397743.1_Missense_Mutation_p.G214R|FTCD_ENST00000359679.2_Missense_Mutation_p.G214R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.G214R			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	214	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTCAGACGTCCTGGCTGCAAA	0.582000													22	87					0	0	0.00188189	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157875	92157875	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92157875A>T	ENST00000256343.3	-	10	1012	c.856T>A	c.(856-858)Ttt>Att	p.F286I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	286					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACCCTTTCAAAACCACAAAAG	0.328000													45	167					0	0	0.000781405	0	0
DICER1	23405	broad.mit.edu	37	14	95570042	95570042	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95570042G>A	ENST00000526495.1	-	23	3982	c.3691C>T	c.(3691-3693)Ccc>Tcc	p.P1231S	DICER1_ENST00000556045.1_Missense_Mutation_p.P129S|DICER1_ENST00000393063.1_Missense_Mutation_p.P1231S|DICER1_ENST00000527414.1_Missense_Mutation_p.P1231S|DICER1_ENST00000343455.3_Missense_Mutation_p.P1231S|DICER1_ENST00000541352.1_Missense_Mutation_p.P1231S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1231					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCATCGCTGGGCTGGGGCTGG	0.433000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				10	45					0	0	0.00185496	0	0
PDE4A	5141	broad.mit.edu	37	19	10561537	10561537	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10561537C>T	ENST00000380702.2	+	7	637	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	PDE4A_ENST00000352831.6_Silent_p.L235L|PDE4A_ENST00000293683.5_Silent_p.L209L|PDE4A_ENST00000440014.2_Silent_p.L174L|PDE4A_ENST00000592685.1_Silent_p.L213L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	235					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCGGGAGACTCTGGAGGAGCT	0.602000													9	28					0	0	0.00136819	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357106	36357106	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36357106G>A	ENST00000360202.5	+	15	2037	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L578L|KIRREL2_ENST00000586102.2_Silent_p.L593L|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	613					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGAGCCTGAGCCTTGGCG	0.607000													24	56					0	0	0.000586117	0	0
F8	2157	broad.mit.edu	37	X	154133271	154133271	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:154133271G>A	ENST00000360256.4	-	16	5601	c.5401C>T	c.(5401-5403)Ccc>Tcc	p.P1801S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1801	F5/8 type A 3.|Plastocyanin-like 5.		P -> A (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGAATAGGGACGAGAGGCC	0.363000													12	21					0	0	0.000978159	0	0
ZNF337	26152	broad.mit.edu	37	20	25656528	25656528	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:25656528C>T	ENST00000376436.1	-	4	1935	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G466R|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G434R					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGCCTCGTCCACAGTCCTTG	0.473000													21	92					0	0	0.00047179	0	0
NLRX1	79671	broad.mit.edu	37	11	119054017	119054017	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119054017C>T	ENST00000409109.1	+	10	3384	c.2797C>T	c.(2797-2799)Ctt>Ttt	p.L933F	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.L933F|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Missense_Mutation_p.L933F			Q86UT6	NLRX1_HUMAN	NLR family member X1	933	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCAGCGACACCTTGAGCTCCT	0.617000													23	52					0	0	0.000720815	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386272	31386272	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:31386272C>T	ENST00000328111.2	+	15	1818	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	DNMT3B_ENST00000201963.3_Silent_p.F491F|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.F479F|DNMT3B_ENST00000353855.2_Silent_p.F479F|DNMT3B_ENST00000456297.2_Silent_p.F403F|DNMT3B_ENST00000348286.2_Silent_p.F479F|DNMT3B_ENST00000443239.3_Silent_p.F437F	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	499	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGGTGTTTCTGTGTGGAGT	0.622000													11	49					0	0	0.00185496	0	0
KRT2	3849	broad.mit.edu	37	12	53044244	53044244	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:53044244G>A	ENST00000309680.3	-	2	700	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	227	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGAAGATGGGCTCCAGGTTG	0.502000													43	78					0	0	0.000781405	0	0
CD209	30835	broad.mit.edu	37	19	7810924	7810924	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7810924C>T	ENST00000315599.7	-	4	250	c.228G>A	c.(226-228)gcG>gcA	p.A76A	CD209_ENST00000394173.4_Silent_p.A76A|CD209_ENST00000593660.1_Silent_p.A52A|CD209_ENST00000204801.8_Silent_p.A32A|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.A32A|CD209_ENST00000354397.6_Silent_p.A76A|CD209_ENST00000601951.1_Silent_p.A52A|CD209_ENST00000602261.1_Silent_p.A76A|CD209_ENST00000315591.8_Silent_p.A52A|CD209_ENST00000601256.1_Silent_p.A52A|CD209_ENST00000301357.8_Silent_p.A32A	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGGTAGATCGCGTCTTGCC	0.512000													46	141					0	0	0.000781405	0	0
ADCY10	55811	broad.mit.edu	37	1	167780031	167780031	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167780031C>T	ENST00000367848.1	-	32	4823	c.4326G>A	c.(4324-4326)ctG>ctA	p.L1442L	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.L1381L|ADCY10_ENST00000367851.4_Silent_p.L1534L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1534					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGCTGTGTTCAGGAAGAGGC	0.488000													21	41					0	0	0.000878237	0	0
DSC1	1823	broad.mit.edu	37	18	28711568	28711568	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28711568G>A	ENST00000257197.3	-	15	2737	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.R826W|RP11-408H20.3_ENST00000582307.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	826					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCGCCAAGCCGAGGTTGGGTG	0.458000													6	51					0	0	0.00116845	0	0
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512000													13	21					0	0	0.00185496	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526903	234526903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234526903C>T	ENST00000373450.4	+	1	613	c.550C>T	c.(550-552)Cct>Tct	p.P184S		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGCACAGTGCCCTGCTCCTCT	0.493000													47	101					0	0	0.000781405	0	0
TAB3	257397	broad.mit.edu	37	X	30871041	30871041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:30871041G>A	ENST00000378933.1	-	4	1741	c.1564C>T	c.(1564-1566)Caa>Taa	p.Q522*	TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q522*|TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q522*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q522*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	522					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CTTGCTCGTTGATGTAACAGC	0.403000													6	14					0	0	0.00198382	0	0
FRAS1	80144	broad.mit.edu	37	4	79458181	79458181	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:79458181C>T	ENST00000264895.6	+	72	11565	c.11125C>T	c.(11125-11127)Cca>Tca	p.P3709S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3704					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTTGGAATCCAGAACAAAA	0.393000													17	91					0	0	0.00121646	0	0
PLCB1	23236	broad.mit.edu	37	20	8862337	8862337	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:8862337C>T	ENST00000338037.6	+	32	3519	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1164					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTTGGAATTCGTGCAGGAAG	0.493000													54	132					0	0	0.000781405	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317495	145317495	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:145317495G>A	ENST00000511217.1	+	1	56	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SH3RF2_ENST00000359120.4_Missense_Mutation_p.D2N			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	2							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAAATGGATGATTTGAC	0.522000													18	82					0	0	0.00229938	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862824	10862824	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:10862824C>T	ENST00000559480.1	+	0	120																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGAAGGTCTCCTGCAAGGCTT	0.577000													12	101					0	0	0.00185496	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212485	43212485	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43212485G>A	ENST00000296388.5	-	15	2145	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_3'UTR|LEPRE1_ENST00000236040.4_3'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	698					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCTGGGCTGAAGAGCATCT	0.597000													5	15					0	0	0.000602214	0	0
IL22	50616	broad.mit.edu	37	12	68646579	68646579	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:68646579G>A	ENST00000538666.1	-	3	287	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	IL22_ENST00000328087.4_Missense_Mutation_p.R73C			Q9GZX6	IL22_HUMAN	interleukin 22	73					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	p.R73C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CCAATGAGACGAACGTCTGTG	0.463000													30	53					0	0	0.00058488	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629685	122629685	+	Splice_Site	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:122629685A>C	ENST00000195173.4	-	22	3726		c.e22+1		SEMA5B_ENST00000357599.3_Splice_Site|SEMA5B_ENST00000451055.2_Splice_Site			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		gaaGGCTCCCACCTTGAATTC	0.527000													7	47					0	0	0.000958276	0	0
UBE2F	140739	broad.mit.edu	37	2	238940868	238940868	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:238940868C>T	ENST00000272930.4	+	8	611	c.417C>T	c.(415-417)gtC>gtT	p.V139V	UBE2F_ENST00000409633.1_Silent_p.V139V|UBE2F_ENST00000414443.1_Silent_p.V107V|UBE2F_ENST00000409332.1_Silent_p.V117V|UBE2F_ENST00000409953.1_Silent_p.V115V|UBE2F-SCLY_ENST00000449191.1_Intron	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	139					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TTCAGGATGTCGTTTGGGGAT	0.338000													12	53					0	0	0.000219431	0	0
LIPJ	142910	broad.mit.edu	37	10	90362355	90362355	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:90362355C>T	ENST00000371939.3	+	9	1060	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	249					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTGTATTTTTCACACAACCCA	0.313000													9	48					0	0	0.000673444	0	0
EPS8L2	64787	broad.mit.edu	37	11	710470	710470	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:710470C>T	ENST00000533256.1	+	5	524	c.149C>T	c.(148-150)tCg>tTg	p.S50L	EPS8L2_ENST00000526198.1_Missense_Mutation_p.S50L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S50L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S50L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	50	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGAGACCTCGCAGTACCAC	0.617000													20	92					0	0	0.000375601	0	0
KRIT1	889	broad.mit.edu	37	7	91863814	91863814	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:91863814G>A	ENST00000394507.1	-	11	1721	c.938C>T	c.(937-939)tCa>tTa	p.S313L	KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Missense_Mutation_p.S313L|KRIT1_ENST00000412043.2_Missense_Mutation_p.S313L|KRIT1_ENST00000340022.2_Missense_Mutation_p.S313L	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	313					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGTTGACTGAAAATCTTTC	0.383000													21	79					0	0	0.000375601	0	0
RP1	6101	broad.mit.edu	37	8	55533787	55533787	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:55533787G>A	ENST00000220676.1	+	2	409	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	87	Doublecortin 1.				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)			GCACCCCTCGGGGCAGGCACA	0.592000													13	40					0	0	0.00136819	0	0
HECW1	23072	broad.mit.edu	37	7	43506080	43506080	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:43506080C>A	ENST00000395891.1	+	15	3431	c.2826C>A	c.(2824-2826)aaC>aaA	p.N942K	HECW1_ENST00000453890.1_Missense_Mutation_p.N908K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	942					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTCCAGTGAACTCACAAAAAA	0.453000													28	55					2.4375e-19	1.09509e-18	0.00127121	1	0
NEB	4703	broad.mit.edu	37	2	152573980	152573980	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152573980C>T	ENST00000397345.3	-	10	974	c.772G>A	c.(772-774)Gat>Aat	p.D258N	NEB_ENST00000172853.10_Missense_Mutation_p.D258N|NEB_ENST00000409198.1_Missense_Mutation_p.D258N|NEB_ENST00000603639.1_Missense_Mutation_p.D258N|NEB_ENST00000427231.2_Missense_Mutation_p.D258N|NEB_ENST00000604864.1_Missense_Mutation_p.D258N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	258					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGAGGATCAGCCAGAGGC	0.403000													7	51					0	0	0.000673444	0	0
SMG5	23381	broad.mit.edu	37	1	156228802	156228802	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156228802G>A	ENST00000361813.5	-	16	2580	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	812					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCACCATTCGGAACTGTGCCT	0.607000													11	30					0	0	0.000219431	0	0
DNAI1	27019	broad.mit.edu	37	9	34501173	34501173	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:34501173G>A	ENST00000242317.4	+	12	1228	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	353					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGTGGGATATGGCTCTTGTAA	0.403000									Kartagener syndrome				34	48					0	0	0.00111076	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535086	51535086	+	Silent	SNP	C	C	T	rs143386224		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:51535086C>T	ENST00000396402.1	-	2	177	c.24G>A	c.(22-24)ccG>ccA	p.P8P	CYP19A1_ENST00000260433.2_Silent_p.P8P|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.P8P|CYP19A1_ENST00000405913.3_Silent_p.P8P|CYP19A1_ENST00000559878.1_Silent_p.P8P|CYP19A1_ENST00000557858.1_Silent_p.P8P	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	8					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TATAATGTATCGGGTTCAGCA	0.478000													26	100					0	0	0.0024448	0	0
UHRF1	29128	broad.mit.edu	37	19	4944405	4944405	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4944405C>T	ENST00000592666.1	+	0	1824							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCCGTCCAACCACTACGGAC	0.667000													29	58					0	0	0.00209593	0	0
DENND3	22898	broad.mit.edu	37	8	142202474	142202474	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:142202474C>T	ENST00000519811.1	+	21	3494	c.3424C>T	c.(3424-3426)Cat>Tat	p.H1142Y	DENND3_ENST00000424248.1_Missense_Mutation_p.H1010Y|DENND3_ENST00000262585.2_Missense_Mutation_p.H1062Y|DENND3_ENST00000523308.1_Missense_Mutation_p.H112Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1062										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGATCCCTCCATCAAGAATT	0.522000													19	66					0	0	0.00121646	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912289	131912289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:131912289C>T	ENST00000359827.3	-	7	2765	c.1803G>A	c.(1801-1803)atG>atA	p.M601I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M601I			Q9HCM2	PLXA4_HUMAN	plexin A4	601						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGCCCATCCATCTCTGACA	0.607000													14	39					0	0	0.000422831	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718375	142718375	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:142718375C>T	ENST00000381779.4	-	2	775	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SLITRK4_ENST00000356928.1_Missense_Mutation_p.D184N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.D184N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	184						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGTATATCCAGATGGGTC	0.418000													18	27					0	0	0.000958276	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141130	143141130	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141130C>T	ENST00000332690.1	+	1	585	c.585C>T	c.(583-585)ttC>ttT	p.F195F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	195					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTATCTCTTCCCTCTAAAAA	0.423000													22	96					0	0	0.00047179	0	0
EMR3	84658	broad.mit.edu	37	19	14752363	14752363	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14752363G>A	ENST00000253673.5	-	10	1216	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	EMR3_ENST00000599900.1_Silent_p.L157L|EMR3_ENST00000443157.2_Silent_p.L246L|EMR3_ENST00000344373.4_Silent_p.L320L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	372					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGCCGCCAGGAGGAGGCACA	0.577000													9	44					0	0	0.000673444	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:56977725G>A	ENST00000371250.3	-	5	1284	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000													20	58					0	0	0.00121646	0	0
TM2D1	83941	broad.mit.edu	37	1	62190821	62190821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:62190821C>T	ENST00000371180.2	-	1	274	c.158G>A	c.(157-159)gGa>gAa	p.G53E	TM2D1_ENST00000294613.5_5'UTR	NM_032027.2	NP_114416.1	Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	0					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CTCGCCACTTCCGCTTCCGCC	0.647000													20	81					0	0	0.000720815	0	0
PTPRE	5791	broad.mit.edu	37	10	129871686	129871686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129871686G>A	ENST00000254667.3	+	17	1829	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	PTPRE_ENST00000306042.5_Nonsense_Mutation_p.W459*|PTPRE_ENST00000419012.2_Nonsense_Mutation_p.W517*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	517	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCTGGGAATGGAAATCCCAC	0.602000													7	35					0	0	0.00198382	0	0
RSF1	51773	broad.mit.edu	37	11	77412531	77412531	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:77412531G>A	ENST00000308488.6	-	6	2045	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	RSF1_ENST00000480887.1_Silent_p.I329I|RSF1_ENST00000360355.2_Silent_p.I550I			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	581					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACATTCTAGGATTGGTGGGC	0.403000													56	131					0	0	0.000781405	0	0
NOVA2	4858	broad.mit.edu	37	19	46443169	46443169	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46443169G>A	ENST00000263257.5	-	4	1625	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	477						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCTCGTAGGTGACCCGCTGAC	0.637000													22	26					0	0	0.000375601	0	0
HERC2	8924	broad.mit.edu	37	15	28424363	28424363	+	Missense_Mutation	SNP	C	C	T	rs137879939		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:28424363C>T	ENST00000261609.7	-	58	9052	c.8944G>A	c.(8944-8946)Gtt>Att	p.V2982I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2982					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACGAAGGAACCTTTATCTAC	0.289000													24	114					0	0	0.00106085	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938827	2938827	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:2938827C>T	ENST00000378404.2	+	1	782	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	193						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACGGAGCTCCTCATGCAGCT	0.627000													22	56					0	0	0.00047179	0	0
C9orf78	51759	broad.mit.edu	37	9	132591577	132591577	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:132591577G>A	ENST00000372447.3	-	8	738	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	229										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				AGCTCCTCATGATAAACTGGA	0.567000													7	36					0	0	0.00198382	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607897	47607897	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47607897G>A	ENST00000371891.3	+	4	531	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	CYP4A22_ENST00000294337.3_Missense_Mutation_p.R167Q|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R167Q|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	167						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACTCTGTACGAGTGATGCTG	0.567000													18	43					0	0	0.00074312	0	0
OR10J1	26476	broad.mit.edu	37	1	159410066	159410066	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:159410066C>T	ENST00000423932.3	+	1	555	c.518C>T	c.(517-519)tCt>tTt	p.S173F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	173					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAAGTGACATCTGTATTCAGG	0.493000													30	53					0	0	0.00127121	0	0
IQUB	154865	broad.mit.edu	37	7	123101558	123101558	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:123101558G>A	ENST00000466202.1	-	11	2436	c.1860C>T	c.(1858-1860)cgC>cgT	p.R620R	IQUB_ENST00000324698.6_Silent_p.R620R			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	620										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGTATATGCGGCGTGAGGTGG	0.378000													5	11					0	0	0.000602214	0	0
A4GALT	53947	broad.mit.edu	37	22	43089692	43089692	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:43089692T>C	ENST00000401850.1	-	2	755	c.266A>G	c.(265-267)aAc>aGc	p.N89S	A4GALT_ENST00000381278.3_Missense_Mutation_p.N89S|A4GALT_ENST00000249005.2_Missense_Mutation_p.N89S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	89					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GAAGTTGGGGTTGGTCCGGTC	0.637000													26	109					0	0	0.00106085	0	0
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42259489C>T	ENST00000392935.3	+	7	653	c.510C>T	c.(508-510)ttC>ttT	p.F170F	VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463000													11	40					0	0	0.000219431	0	0
NUP98	4928	broad.mit.edu	37	11	3700811	3700811	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3700811G>A	ENST00000324932.7	-	31	5466	c.5046C>T	c.(5044-5046)gtC>gtT	p.V1682V	NUP98_ENST00000355260.3_Silent_p.V1608V|NUP98_ENST00000359171.4_Silent_p.V1608V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1699					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCATTTCAATGACTCTAATAT	0.478000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								5	37					0	0	0.00116845	0	0
TUBB8	347688	broad.mit.edu	37	10	94621	94621	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:94621C>T	ENST00000309812.4	-	3	273	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Silent_p.R34R	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	71					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCCATGGTGCCCGGCTCCAGA	0.701000													24	45					0	0	0.00128727	0	0
AP1M2	10053	broad.mit.edu	37	19	10692226	10692226	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10692226G>A	ENST00000590923.1	-	5	566	c.483C>T	c.(481-483)tcC>tcT	p.S161S	AP1M2_ENST00000250244.6_Silent_p.S161S			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	161					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGATACCCTCGGAGCGCCAGG	0.592000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	25					0	0	0.00185496	0	0
HGFAC	3083	broad.mit.edu	37	4	3445869	3445869	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3445869C>T	ENST00000382774.3	+	5	694	c.579C>T	c.(577-579)acC>acT	p.T193T	HGFAC_ENST00000511533.1_Silent_p.T193T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	193	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGCCTTCACCGGCAAGGACT	0.692000													4	6					0	0	0.00024832	0	0
KDM5D	8284	broad.mit.edu	37	Y	21877756	21877756	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrY:21877756G>A	ENST00000541639.1	-	17	2546	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	KDM5D_ENST00000382806.2_Silent_p.S665S|KDM5D_ENST00000317961.4_Silent_p.S722S	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	722					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CATTGATGTGGGAAAGGCATA	0.557000													13	16					0	0	0.000308642	0	0
KCNH1	3756	broad.mit.edu	37	1	211192179	211192179	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:211192179C>T	ENST00000271751.4	-	6	1005	c.978G>A	c.(976-978)ggG>ggA	p.G326G	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	326					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCAATCTTCCCTGGATCAC	0.458000													17	87					0	0	0.000958276	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942994	59942994	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59942994G>A	ENST00000528851.1	-	5	570	c.430C>T	c.(430-432)Cct>Tct	p.P144S	MS4A6A_ENST00000323961.3_Missense_Mutation_p.P144S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P80S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P172S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.P144S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P144S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P172S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P99S			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	144						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGGCAGGATTTAAGGTG	0.428000													12	37					0	0	0.00136819	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536314	130536314	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:130536314C>T	ENST00000314830.8	-	2	583	c.470G>A	c.(469-471)gGa>gAa	p.G157E	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	157					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTACGTCTCCTGTGGGGAC	0.572000													14	29					0	0	0.000422831	0	0
STEAP3	55240	broad.mit.edu	37	2	120005343	120005343	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120005343C>T	ENST00000354888.5	+	4	1085	c.581C>T	c.(580-582)tCc>tTc	p.S194F	STEAP3_ENST00000393106.2_Missense_Mutation_p.S194F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S194F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.S194F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S194F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S204F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	194					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GACATGGGATCCCTGGCGTCA	0.667000													6	22					0	0	0.00116845	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795991	15795991	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15795991C>T	ENST00000550308.1	+	9	1479	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P367S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGACCGCGATCCTAAAGAGAT	0.562000													19	80					0	0	0.00229938	0	0
CYP2C9	1559	broad.mit.edu	37	10	96709029	96709029	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96709029G>A	ENST00000260682.6	+	5	819	c.807G>A	c.(805-807)atG>atA	p.M269I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	269					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCTTCCTGATGAAAATGGAGA	0.323000													7	32					0	0	0.000274275	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309564	89309564	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89309564G>A	ENST00000493819.1	-	0	323																											TTCTGTCCCAGATCCACTGCC	0.483000													40	63					0	0	0.000781405	0	0
SNHG14	104472715	broad.mit.edu	37	15	25304718	25304718	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:25304718C>T	ENST00000549804.2	+	0	111				SNHG14_ENST00000384733.1_RNA																							AAAAACATTCCTTGGAAAAGC	0.502000													23	121					0	0	0.00127121	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444303	15444303	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:15444303C>T	ENST00000295297.4	+	3	1030	c.771C>T	c.(769-771)ttC>ttT	p.F257F	C1QTNF7_ENST00000444304.2_Silent_p.F250F|C1QTNF7_ENST00000429690.1_Silent_p.F250F	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	250	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TGGAGATTTTCTTCACAGACC	0.483000													13	75					0	0	0.000219431	0	0
MAP10	54627	broad.mit.edu	37	1	232942939	232942939	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:232942939G>C	ENST00000418460.1	+	1	2297	c.2170G>C	c.(2170-2172)Gtt>Ctt	p.V724L		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AATCAGTGGAGTTTTTGATGA	0.333000													5	39					0	0	0.000602214	0	0
TPH2	121278	broad.mit.edu	37	12	72338106	72338106	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:72338106C>T	ENST00000333850.3	+	3	429	c.288C>T	c.(286-288)tcC>tcT	p.S96S	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	96	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATATTGAATCCAGGAAATCTC	0.403000													10	32					0	0	0.000673444	0	0
MRE11A	4361	broad.mit.edu	37	11	94197315	94197315	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:94197315G>A	ENST00000323929.3	-	11	1411	c.1189C>T	c.(1189-1191)Cat>Tat	p.H397Y	MRE11A_ENST00000407439.3_Missense_Mutation_p.H400Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.H397Y|MRE11A_ENST00000323977.3_Missense_Mutation_p.H397Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	397					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTGAAAAAATGGATAATGTCT	0.343000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				31	70					0	0	0.00058488	0	0
BDKRB2	624	broad.mit.edu	37	14	96707018	96707018	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96707018C>T	ENST00000542454.2	+	3	3360	c.272C>T	c.(271-273)tCc>tTc	p.S91F	BDKRB2_ENST00000539359.1_Missense_Mutation_p.S91F|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S118F|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S118F|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	118					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ATCACCATCTCCAACAACTTC	0.587000													34	131					0	0	0.00111076	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348819	122348819	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:122348819C>T	ENST00000398248.1	+	3	522	c.170C>T	c.(169-171)cCt>cTt	p.P57L	PPAPDC1A_ENST00000398250.1_Silent_p.S207S|PPAPDC1A_ENST00000439221.1_Silent_p.S144S|PPAPDC1A_ENST00000369073.3_Silent_p.S197S			Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	0					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCTAGATTCCTTTGTGGGTG	0.443000													31	150					0	0	0.000692331	0	0
ARPP21	10777	broad.mit.edu	37	3	35780915	35780915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:35780915C>T	ENST00000187397.4	+	17	2207	c.1751C>T	c.(1750-1752)cCa>cTa	p.P584L	ARPP21_ENST00000337271.5_Missense_Mutation_p.P565L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P585L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P585L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P565L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	584	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCCTTATGCCACAGCCGGCC	0.612000													13	43					0	0	0.00136819	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902310	24902310	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24902310G>A	ENST00000347898.3	+	9	1407	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R198Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R227Q|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R192Q|SLC5A11_ENST00000424767.2_Missense_Mutation_p.R227Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R198Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R192Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	262					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CATATTTTCCGAGATCCGCTG	0.572000													39	62					0	0	0.00222228	0	0
NUP210	23225	broad.mit.edu	37	3	13420428	13420428	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:13420428G>A	ENST00000254508.5	-	8	1111	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	343					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCAGGTTCGACCACGTAGA	0.448000													55	143					0	0	0.000781405	0	0
HELLS	3070	broad.mit.edu	37	10	96352063	96352063	+	Silent	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96352063T>G	ENST00000348459.5	+	16	1950	c.1845T>G	c.(1843-1845)ggT>ggG	p.G615G	HELLS_ENST00000394045.1_Silent_p.G517G|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Silent_p.G661G	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	615	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAAAAAGAGGTCACAAGGTGG	0.323000													10	55					0	0	0.000978159	0	0
TPH1	7166	broad.mit.edu	37	11	18062263	18062263	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18062263C>T	ENST00000250018.2	-	1	609	c.47G>A	c.(46-48)gGa>gAa	p.G16E	TPH1_ENST00000341556.2_Missense_Mutation_p.G16E	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	16					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTTGCTCTTCCCCTTTCTAA	0.343000													10	47					0	0	0.000673444	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038784	122038784	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:122038784G>A	ENST00000263707.5	-	2	223	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	42	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTGGCAGGCGGGCCTCGTTCT	0.607000													43	170					0	0	0.000781405	0	0
PTPN4	5775	broad.mit.edu	37	2	120620206	120620206	+	Missense_Mutation	SNP	C	C	T	rs145726868	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120620206C>T	ENST00000263708.2	+	3	1004	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	78	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GCTGATGATTCCACAGATAAC	0.373000													12	46					0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82581953	82581953	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82581953T>C	ENST00000423517.2	-	5	8653	c.8316A>G	c.(8314-8316)caA>caG	p.Q2772Q	PCLO_ENST00000333891.8_Silent_p.Q2772Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2703					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATAGAGGGTTGGACAGCAC	0.388000													13	59					0	0	0.000219431	0	0
UTP6	55813	broad.mit.edu	37	17	30211497	30211497	+	Missense_Mutation	SNP	G	G	A	rs146623373		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:30211497G>A	ENST00000261708.4	-	10	868	c.731C>T	c.(730-732)tCg>tTg	p.S244L	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	244					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTGTGCAATCGAAAGCAGTGA	0.333000													10	29					0	0	0.00185496	0	0
ESYT1	23344	broad.mit.edu	37	12	56536073	56536073	+	Missense_Mutation	SNP	G	G	T	rs144008887		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:56536073G>T	ENST00000394048.5	+	25	2861	c.2597G>T	c.(2596-2598)cGg>cTg	p.R866L	ESYT1_ENST00000267113.4_Missense_Mutation_p.R876L|ESYT1_ENST00000541590.1_Missense_Mutation_p.R876L|ESYT1_ENST00000550878.1_Intron	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	866	C2 4.					integral to membrane		p.R866L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACAGGTTCGGGGTGAGGGC	0.547000													9	148					0.000978159	0.00432453	0.000978159	1	0
IL1R1	3554	broad.mit.edu	37	2	102792865	102792865	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:102792865C>T	ENST00000410023.1	+	12	1674	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	IL1R1_ENST00000233946.3_Silent_p.I452I|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Silent_p.I421I			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	452	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GACTGATTATCATTTTAGTCA	0.353000													10	70					0	0	0.000978159	0	0
HTR3A	3359	broad.mit.edu	37	11	113860388	113860388	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113860388C>T	ENST00000504030.2	+	9	1785	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	HTR3A_ENST00000375498.2_Missense_Mutation_p.S453F|HTR3A_ENST00000506841.2_Missense_Mutation_p.S479F|HTR3A_ENST00000299961.5_Missense_Mutation_p.S432F|HTR3A_ENST00000355556.2_Missense_Mutation_p.S485F|HTR3A_ENST00000535865.1_Missense_Mutation_p.S191F			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	447	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGCGTGGGCTCCGTGCTGGAC	0.602000													25	54					0	0	0.000586117	0	0
PXDNL	137902	broad.mit.edu	37	8	52366189	52366189	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:52366189G>A	ENST00000356297.4	-	10	1239	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	PXDNL_ENST00000543296.1_Missense_Mutation_p.S380F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	380	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTCCACTGGACGTTGCCAC	0.502000													10	48					0	0	0.000442599	0	0
OR2J3	442186	broad.mit.edu	37	6	29080091	29080091	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29080091C>T	ENST00000377169.1	+	1	424	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CATGCACCCTCGTTTCTGCCA	0.527000													61	111					0	0	0.000781405	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141419	143141419	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143141419C>T	ENST00000332690.1	+	1	874	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	292					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGCAGTTCACCCCATCAT	0.488000													35	108					0	0	0.000814825	0	0
COL14A1	7373	broad.mit.edu	37	8	121174798	121174798	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:121174798C>T	ENST00000297848.3	+	4	609	c.339C>T	c.(337-339)ggC>ggT	p.G113G	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G113G|COL14A1_ENST00000247781.3_Silent_p.G113G|COL14A1_ENST00000537875.1_Silent_p.G113G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	113	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCTCAAGGCCAATTCAGAA	0.383000													7	37					0	0	0.00198382	0	0
TRPM4	54795	broad.mit.edu	37	19	49686156	49686156	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:49686156C>T	ENST00000252826.5	+	11	1711	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	TRPM4_ENST00000427978.2_Missense_Mutation_p.P529S|TRPM4_ENST00000355712.5_Missense_Mutation_p.P175S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	529					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACCCTCACCCAGGCCAGGG	0.721000													10	15					0	0	0.000673444	0	0
ZNF215	7762	broad.mit.edu	37	11	6953603	6953603	+	Missense_Mutation	SNP	G	G	A	rs35628439		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6953603G>A	ENST00000278319.5	+	3	688	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E34K|ZNF215_ENST00000529903.1_Missense_Mutation_p.E34K	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	34					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTGGCAGCAGGAAACCAACCC	0.493000													32	75					0	0	0.00148497	0	0
FES	2242	broad.mit.edu	37	15	91433182	91433182	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:91433182C>G	ENST00000328850.3	+	8	1181	c.1039C>G	c.(1039-1041)Ccc>Gcc	p.P347A	FES_ENST00000394300.3_Missense_Mutation_p.P289A|FES_ENST00000448367.1_3'UTR|FES_ENST00000414248.2_Missense_Mutation_p.P289A|FES_ENST00000450438.2_Missense_Mutation_p.P289A|FES_ENST00000394302.1_Missense_Mutation_p.P289A|FES_ENST00000444422.2_Missense_Mutation_p.P347A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	347					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAACACCCACCCCCGGGAGCG	0.657000													24	154					0	0	0.000375601	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606553	47606553	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47606553C>T	ENST00000371891.3	+	2	328	c.297C>T	c.(295-297)ctC>ctT	p.L99L	CYP4A22_ENST00000294337.3_Silent_p.L99L|CYP4A22_ENST00000371890.3_Silent_p.L99L|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	99						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGTCCAGCTCTATGACCCTG	0.517000													8	105					0	0	0.000978159	0	0
LRRC55	219527	broad.mit.edu	37	11	56949817	56949817	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56949817C>T	ENST00000497933.1	+	1	597	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	120						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCCCCGGGGCCTCTTCCTCC	0.577000													8	11					0	0	0.000157383	0	0
DLC1	10395	broad.mit.edu	37	8	13357009	13357009	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:13357009A>G	ENST00000276297.4	-	2	981	c.572T>C	c.(571-573)cTg>cCg	p.L191P	DLC1_ENST00000316609.5_Missense_Mutation_p.L191P|DLC1_ENST00000511869.1_Missense_Mutation_p.L191P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	191					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAAAGCTCCAGGCTTTTACT	0.378000													40	94					0	0	0.00222228	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055931	65055931	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65055931C>T	ENST00000298705.1	+	12	1240	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	382																	CCCCCTTGATCCAGAAGAAAA	0.433000													7	46					0	0	0.000157383	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246131	47246131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47246131G>A	ENST00000300404.2	+	10	1423	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G369E|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G395E	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	455					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAGAGGATGGGATTTTTCCAA	0.557000													10	17					0	0	0.000978159	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078040	46078040	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46078040C>T	ENST00000397907.1	+	1	192	c.144C>T	c.(142-144)ccC>ccT	p.P48P	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	48	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGTGGCTCCCTCCTGCCAGC	0.647000													15	93					0	0	0.000308642	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238578	21238578	+	Missense_Mutation	SNP	G	G	A	rs28731276	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21238578G>A	ENST00000326783.3	+	2	367	c.269G>A	c.(268-270)cGa>cAa	p.R90Q		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	90					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GATCGCTTCCGAAATGCATAT	0.408000													5	30					0	0	0.000602214	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42458006G>A	ENST00000262407.5	-	14	1432	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	467					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.I467I(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602000													19	36					0	0	0.000878237	0	0
OR13C4	138804	broad.mit.edu	37	9	107289317	107289317	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:107289317G>A	ENST00000277216.3	-	1	173	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGAAGTACATGGGCATGTGAA	0.413000													22	36					0	0	0.000375601	0	0
MAP2K6	5608	broad.mit.edu	37	17	67519782	67519782	+	Splice_Site	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:67519782C>A	ENST00000590474.1	+	8	950	c.663_splice	c.e8+1	p.A221_splice	MAP2K6_ENST00000589647.1_Splice_Site_p.A165_splice	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	221	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATACATGGCCGTAAGTACAT	0.453000													5	98					0.00116845	0.00515798	0.00116845	1	0
LRP2	4036	broad.mit.edu	37	2	170027124	170027124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170027124G>A	ENST00000263816.3	-	59	11602	c.11317C>T	c.(11317-11319)Ccc>Tcc	p.P3773S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3773	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCGCGAGGGAATGCACTGC	0.502000													22	55					0	0	0.00152264	0	0
CCNK	8812	broad.mit.edu	37	14	99959118	99959118	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:99959118C>T	ENST00000389879.5	+	2	227	c.104C>T	c.(103-105)cCc>cTc	p.P35L	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.P35L	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	35					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GCTCATACACCCTCACAACTT	0.507000													6	24					0	0	0.00198382	0	0
SLC35D2	11046	broad.mit.edu	37	9	99107656	99107656	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:99107656G>A	ENST00000253270.7	-	7	578	c.516C>T	c.(514-516)ggC>ggT	p.G172G	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	172						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CAAAAATATAGCCTTCTAAGT	0.428000													17	33					0	0	0.000958276	0	0
KIF1B	23095	broad.mit.edu	37	1	10316337	10316337	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10316337C>T	ENST00000377086.1	+	3	341	c.139C>T	c.(139-141)Cca>Tca	p.P47S	KIF1B_ENST00000377093.4_Missense_Mutation_p.P47S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P47S|KIF1B_ENST00000377083.1_Missense_Mutation_p.P47S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P47S			O60333	KIF1B_HUMAN	kinesin family member 1B	47	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGAAGCTCCAAAGTCCTT	0.398000													31	79					0	0	0.000692331	0	0
OR8D2	283160	broad.mit.edu	37	11	124189289	124189289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124189289C>T	ENST00000357438.2	-	1	895	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTCTTTTTCCATAGTAGTG	0.428000													28	64					0	0	0.00209593	0	0
CARS	833	broad.mit.edu	37	11	3028115	3028115	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3028115G>A	ENST00000397114.3	-	19	2240	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Missense_Mutation_p.H632Y|CARS_ENST00000278224.9_Missense_Mutation_p.H632Y|CARS_ENST00000380525.4_Missense_Mutation_p.H715Y|CARS_ENST00000401769.3_Missense_Mutation_p.H645Y			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	632					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCACCTTCGTGGTCTTCAAAC	0.587000			T	ALK	ALCL								40	244					0	0	0.000781405	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484046	20484046	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20484046G>A	ENST00000202677.6	-	35	5299	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1719	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAAACATGGAAAATCACTT	0.542000													23	48					0	0	0.000586117	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441559	79441559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:79441559G>A	ENST00000376718.3	-	5	721	c.598C>T	c.(598-600)Cct>Tct	p.P200S	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.P200S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	200					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCAAGTTAGGAAATTTTTCT	0.473000													29	46					0	0	0.00106085	0	0
WFDC3	140686	broad.mit.edu	37	20	44416612	44416612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:44416612C>T	ENST00000243938.4	-	4	304	c.221G>A	c.(220-222)aGa>aAa	p.R74K	WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	74	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCAATCTCTTTTCCTCCC	0.488000													14	34					0	0	0.000308642	0	0
NRXN2	9379	broad.mit.edu	37	11	64397988	64397988	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64397988C>T	ENST00000265459.6	-	19	4104	c.3643G>A	c.(3643-3645)Gag>Aag	p.E1215K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E1175K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1215K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E169K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1208K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1215	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCGTTGGGCTCGTCGATGGTA	0.627000													30	54					0	0	0.00209593	0	0
NDFIP1	80762	broad.mit.edu	37	5	141517330	141517330	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:141517330C>T	ENST00000253814.4	+	5	872	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	134					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTTTTTCCTGTCTTTTT	0.453000													32	156					0	0	0.000491102	0	0
PIGR	5284	broad.mit.edu	37	1	207108853	207108853	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207108853G>A	ENST00000356495.4	-	5	1539	c.1356C>T	c.(1354-1356)acC>acT	p.T452T		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	452	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGATCTCCACGGTGGTCCTCC	0.562000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	78					0	0	0.000157383	0	0
TUBD1	51174	broad.mit.edu	37	17	57963527	57963527	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:57963527C>T	ENST00000325752.3	-	3	514	c.237G>A	c.(235-237)aaG>aaA	p.K79K	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Silent_p.K79K|TUBD1_ENST00000340993.6_Silent_p.K79K|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Silent_p.K79K|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Silent_p.K79K	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	79					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACTGGGCAGCCTTTGACAGCA	0.423000													38	57					0	0	0.00128727	0	0
BMP3	651	broad.mit.edu	37	4	81966905	81966905	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:81966905A>T	ENST00000282701.2	+	2	650	c.330A>T	c.(328-330)agA>agT	p.R110S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	110					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTCTTGAAAGAAAAGGACTGT	0.358000													7	47					0	0	0.000442599	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842006	28842006	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28842006T>G	ENST00000336783.4	+	9	1272	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A	ATXN2L_ENST00000564304.1_Missense_Mutation_p.S369A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S369A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S369A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S369A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S369A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S369A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	369						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ATGCAGCAGCTCTCGGGGCGG	0.607000													14	41					0	0	0.000219431	0	0
CDYL2	124359	broad.mit.edu	37	16	80667020	80667020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:80667020C>T	ENST00000299564.8	-	3	885	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	CDYL2_ENST00000562812.1_Missense_Mutation_p.E245K|CDYL2_ENST00000563890.1_Missense_Mutation_p.E245K|CDYL2_ENST00000566173.1_Missense_Mutation_p.E245K	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	244						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CAGTTGCTTTCATTCTGGCGG	0.527000													13	77					0	0	0.000308642	0	0
KMT2C	58508	broad.mit.edu	37	7	151945093	151945093	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151945093C>T	ENST00000355193.2	-	14	2644	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	KMT2C_ENST00000262189.6_Missense_Mutation_p.G809E					lysine (K)-specific methyltransferase 2C																		CATGATGTTTCCAGCAGAGGA	0.448000													19	465					0	0	0.00229938	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067330	103067330	+	Silent	SNP	C	C	T	rs140183707	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103067330C>T	ENST00000264260.2	+	11	1822	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_ENST00000409369.1_Silent_p.F269F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	411	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343000													43	115					0	0	0.000781405	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604599	58604599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:58604599G>A	ENST00000287275.1	-	5	755	c.365C>T	c.(364-366)tCa>tTa	p.S122L	GLYATL2_ENST00000532258.1_Missense_Mutation_p.S122L|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	122						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TACCTGCACTGATTTTGAAGT	0.403000													13	42					0	0	0.000219431	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308218	154308218	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:154308218C>T	ENST00000285873.7	-	6	858	c.781_splice	c.e6-1	p.G261_splice		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	261					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATCATCACCCCTGCAGATT	0.473000													8	34					0	0	0.000442599	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110496	151110496	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151110496G>A	ENST00000341697.3	-	9	2324	c.633C>T	c.(631-633)ctC>ctT	p.L211L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	211	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCGGAGCGGAGTGGGGGCT	0.627000													22	61					0	0	0.00106085	0	0
ACY3	91703	broad.mit.edu	37	11	67413180	67413180	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:67413180G>A	ENST00000255082.3	-	4	585	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	ACY3_ENST00000529256.1_Silent_p.L18L	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	139					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGCGGCACAGGTGCATGGCA	0.627000													23	47					0	0	0.000878237	0	0
LAMB1	3912	broad.mit.edu	37	7	107600132	107600132	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:107600132C>T	ENST00000393560.1	-	19	2624	c.2462G>A	c.(2461-2463)aGg>aAg	p.R821K	LAMB1_ENST00000222399.6_Intron|LAMB1_ENST00000393561.1_Intron			P07942	LAMB1_HUMAN	laminin, beta 1	0	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGAGGAACCTACGTTTGCA	0.517000													7	44					0	0	0.00198382	0	0
POR	5447	broad.mit.edu	37	7	75615739	75615739	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:75615739G>A	ENST00000419840.1	+	15	1725	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	POR_ENST00000439269.1_Silent_p.A399A|POR_ENST00000545601.1_Silent_p.A469A|POR_ENST00000461988.1_Silent_p.A661A|POR_ENST00000450476.1_Missense_Mutation_p.R567Q|POR_ENST00000394893.1_3'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACGCGCAGGCGGTGGACTACA	0.637000													13	36					0	0	0.00185496	0	0
ADAM18	8749	broad.mit.edu	37	8	39587434	39587434	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:39587434C>T	ENST00000265707.5	+	20	2240	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	ADAM18_ENST00000379866.1_Missense_Mutation_p.S708L|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.S146L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	732					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCCGTTGTATCAGAAAGCGAT	0.318000													34	114					0	0	0.00170553	0	0
RP1L1	94137	broad.mit.edu	37	8	10469043	10469043	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:10469043G>A	ENST00000382483.3	-	4	2788	c.2565C>T	c.(2563-2565)acC>acT	p.T855T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	855					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCTGGGCGGGGTGGGACAGT	0.731000													7	6					0	0	0.000157383	0	0
ATP2A3	489	broad.mit.edu	37	17	3833709	3833709	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:3833709G>A	ENST00000309890.7	-	18	2780	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	ATP2A3_ENST00000397041.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000397039.1_Missense_Mutation_p.S61F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S877F|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S877F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	877					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTTGTCTTCGGAGCACTTCAG	0.622000													13	35					0	0	0.000422831	0	0
ITFG2	55846	broad.mit.edu	37	12	2933279	2933279	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:2933279C>T	ENST00000228799.2	+	12	1403	c.1264C>T	c.(1264-1266)Cgt>Tgt	p.R422C	ITFG2_ENST00000419778.2_Missense_Mutation_p.R245C|ITFG2_ENST00000542548.1_Missense_Mutation_p.R310C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	422										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCCTGTGACTCGTGCCCTGCT	0.602000													40	59					0	0	0.000781405	0	0
LRGUK	136332	broad.mit.edu	37	7	133842793	133842793	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:133842793G>A	ENST00000285928.2	+	6	745	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	226							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TATAGGCAATGAGATAGAAGA	0.348000													19	58					0	0	0.00188189	0	0
KRT5	3852	broad.mit.edu	37	12	52914052	52914052	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52914052C>T	ENST00000252242.4	-	1	419	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	10	Head.			FRS -> SGA (in Ref. 2).	epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCGCTCCGGAAGGACAC	0.637000													5	10					0	0	0.00198382	0	0
CLCN1	1180	broad.mit.edu	37	7	143013335	143013335	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143013335G>A	ENST00000343257.2	+	1	117	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	10					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGCAGCGTGGGGGTGAACAAA	0.622000													23	32					0	0	0.00229938	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:60970872C>T	ENST00000335670.6	-	2	280	c.180G>A	c.(178-180)acG>acA	p.T60T	RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000													6	37					0	0	0.00116845	0	0
XIST	7503	broad.mit.edu	37	X	73063632	73063632	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73063632G>A	ENST00000429829.1	-	0	8956					NR_001564.2																						GCACAGATCAGGAGCAAATGT	0.423000													6	20					0	0	0.00116845	0	0
TYRO3	7301	broad.mit.edu	37	15	41863851	41863851	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41863851G>A	ENST00000263798.3	+	14	1943	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	TYRO3_ENST00000559066.1_Silent_p.K528K	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	573	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTTGCATGAAGGAGTTTGACC	0.463000													8	103					0	0	0.000442599	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500143	220500143	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220500143C>T	ENST00000358055.3	+	13	2409	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	SLC4A3_ENST00000273063.6_Missense_Mutation_p.L660F|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L633F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.L633F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L660F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	633					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGAGAGCTGCTTAGGAAGCG	0.632000													12	36					0	0	0.000219431	0	0
CBX8	57332	broad.mit.edu	37	17	77768609	77768609	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:77768609G>A	ENST00000269385.4	-	5	1112	c.995C>T	c.(994-996)tCc>tTc	p.S332F		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCGATGAGGGAGGGCCTTCC	0.687000													13	25					0	0	0.00185496	0	0
FAM129A	116496	broad.mit.edu	37	1	184764157	184764157	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:184764157C>T	ENST00000367511.3	-	14	2934	c.2741G>A	c.(2740-2742)gGa>gAa	p.G914E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	914					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACCACCTTCTCCCTCCTTCAC	0.517000													37	90					0	0	0.00128727	0	0
NPW	283869	broad.mit.edu	37	16	2070544	2070544	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:2070544G>A	ENST00000329610.4	+	2	804	c.422G>A	c.(421-423)aGa>aAa	p.R141K	NPW_ENST00000566435.1_Missense_Mutation_p.R89K	NM_001099456.2	NP_001092926.2	Q8N729	NPW_HUMAN	neuropeptide W	141					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						AGACTTCGGAGAGACGTCTCC	0.716000													9	33					0	0	0.00136819	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777658	56777658	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:56777658C>T	ENST00000423391.1	-	1	978	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	293						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCATAGAGATCCTTGCGAATA	0.493000													6	48					0	0	0.00198382	0	0
ADCY5	111	broad.mit.edu	37	3	123014945	123014945	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:123014945G>A	ENST00000462833.1	-	17	4261	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	ADCY5_ENST00000491190.1_Missense_Mutation_p.L675F|ADCY5_ENST00000309879.5_Missense_Mutation_p.L667F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTTTCCAGAGGAAGTCGAGG	0.642000													11	51					0	0	0.000673444	0	0
PRPF6	24148	broad.mit.edu	37	20	62642815	62642815	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62642815C>A	ENST00000535781.1	+	11	1594	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	495					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CACCTCGCTGCGGGCCAACGG	0.582000													5	16					1.23904e-05	5.5219e-05	0.000602214	1	0
UBQLN1	29979	broad.mit.edu	37	9	86300962	86300962	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:86300962G>A	ENST00000376395.4	-	2	812	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	UBQLN1_ENST00000257468.7_Missense_Mutation_p.H97Y	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	97	Ubiquitin-like.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTCCATCATGAATTCCATGC	0.328000													19	32					0	0	0.000958276	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:188361661C>T	ENST00000233156.3	-	3	560	c.266G>A	c.(265-267)gGa>gAa	p.G89E	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.G89E|TFPI_ENST00000339091.4_Missense_Mutation_p.G89E|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.G89E	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	89	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATTCTGATTTCCTTCACATCC	0.388000													17	46					0	0	0.00121646	0	0
FLG	2312	broad.mit.edu	37	1	152281024	152281024	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152281024C>T	ENST00000368799.1	-	3	6373	c.6338G>A	c.(6337-6339)gGa>gAa	p.G2113E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2113	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2113E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCCAGTGCT	0.567000									Ichthyosis				28	129					0	0	0.00127121	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816394	156816394	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156816394C>T	ENST00000347377.6	+	29	3836	c.3405C>T	c.(3403-3405)ttC>ttT	p.F1135F	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.F939F|CYFIP2_ENST00000377576.3_Silent_p.F1135F|CYFIP2_ENST00000318218.6_Silent_p.F1160F|CYFIP2_ENST00000521420.1_Silent_p.F1109F|CYFIP2_ENST00000435847.2_Silent_p.F834F|CYFIP2_ENST00000541131.1_Silent_p.F1060F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1160					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.F1160F(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATGCAGTTCGTGTACTGCA	0.617000													31	144					0	0	0.000692331	0	0
TTN	7273	broad.mit.edu	37	2	179584982	179584982	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179584982C>T	ENST00000589042.1	-	81	23611	c.23387G>A	c.(23386-23388)cGa>cAa	p.R7796Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6552Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7479Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7479	Ig-like 60.						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)			TTTCACGAATCGTGGAGGTTC	0.453000													8	44					0	0	0.000442599	0	0
KIF1B	23095	broad.mit.edu	37	1	10316344	10316344	+	Missense_Mutation	SNP	C	C	T	rs143654307		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10316344C>T	ENST00000377086.1	+	3	348	c.146C>T	c.(145-147)tCc>tTc	p.S49F	KIF1B_ENST00000377093.4_Missense_Mutation_p.S49F|KIF1B_ENST00000263934.6_Missense_Mutation_p.S49F|KIF1B_ENST00000377083.1_Missense_Mutation_p.S49F|KIF1B_ENST00000377081.1_Missense_Mutation_p.S49F			O60333	KIF1B_HUMAN	kinesin family member 1B	49	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAAAGTCCTTCAGCTTC	0.403000													41	68					0	0	0.000781405	0	0
USP43	124739	broad.mit.edu	37	17	9596507	9596507	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:9596507C>T	ENST00000570827.2	+	9	1558	c.484C>T	c.(484-486)Ccg>Tcg	p.P162S	USP43_ENST00000285199.6_Missense_Mutation_p.P473S|USP43_ENST00000570475.1_Missense_Mutation_p.P473S			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	473					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTATTTGTCTCCGAAGGACAG	0.517000													11	20					0	0	0.00136819	0	0
PCDH15	65217	broad.mit.edu	37	10	56138635	56138635	+	Silent	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:56138635A>T	ENST00000373965.2	-	4	619	c.225T>A	c.(223-225)ctT>ctA	p.L75L	PCDH15_ENST00000395430.1_Silent_p.L75L|PCDH15_ENST00000395438.1_Silent_p.L75L|PCDH15_ENST00000414778.1_Silent_p.L80L|PCDH15_ENST00000437009.1_Silent_p.L75L|PCDH15_ENST00000361849.3_Silent_p.L75L|PCDH15_ENST00000395445.1_Silent_p.L75L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Silent_p.L75L|PCDH15_ENST00000373955.1_Silent_p.L75L|PCDH15_ENST00000395433.1_Silent_p.L53L|PCDH15_ENST00000373957.3_Silent_p.L53L|PCDH15_ENST00000395446.1_Silent_p.L75L|PCDH15_ENST00000395432.2_Silent_p.L75L|PCDH15_ENST00000395440.1_Silent_p.L75L|PCDH15_ENST00000395442.1_Silent_p.L75L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	75	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTTAAAGAAAGTTCTATGG	0.428000										HNSCC(58;0.16)			15	87					0	0	0.000566183	0	0
AGAP10	728127	broad.mit.edu	37	10	47193377	47193377	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:47193377T>C	ENST00000355232.3	-	9	3829	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	AGAP10_ENST00000452145.2_Missense_Mutation_p.M248V|AGAP10_ENST00000413193.2_Missense_Mutation_p.M293V					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10											endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						GACCAGCGCATGGACAGCTTG	0.582000													5	33					0	0	0.00116845	0	0
MAS1	4142	broad.mit.edu	37	6	160328623	160328623	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:160328623G>A	ENST00000252660.4	+	1	650	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	212					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCTTGGTCGTGAAGATCCGGA	0.502000													20	25					0	0	0.00188189	0	0
TG	7038	broad.mit.edu	37	8	133881993	133881993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:133881993G>A	ENST00000220616.4	+	3	236	c.196G>A	c.(196-198)Gac>Aac	p.D66N	TG_ENST00000377869.1_Missense_Mutation_p.D66N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	66	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCCAGAACGACGGCCGCTC	0.637000													7	50					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13850833	13850833	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13850833C>T	ENST00000265104.4	-	31	5146	c.5042G>A	c.(5041-5043)gGa>gAa	p.G1681E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1681	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCTCATCTCCAACACAGCA	0.478000									Kartagener syndrome				7	37					0	0	0.00198382	0	0
SPEF2	79925	broad.mit.edu	37	5	35712950	35712950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:35712950G>A	ENST00000440995.2	+	20	2861	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G959E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	959					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCAGGAAGGAAAAGGGAAG	0.348000													9	40					0	0	0.00136819	0	0
PRAM1	84106	broad.mit.edu	37	19	8564413	8564413	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564413C>T	ENST00000423345.4	-	2	799	c.279G>A	c.(277-279)aaG>aaA	p.K93K	PRAM1_ENST00000255612.3_Silent_p.K93K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	141	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGGGCTTCTTGGGGAGGT	0.657000													21	261					0	0	0.00178596	0	0
ZNF716	441234	broad.mit.edu	37	7	57528830	57528830	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:57528830C>T	ENST00000420713.1	+	4	775	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GTGGCAAATCCTTTAACTGCT	0.383000													4	5					0	0	0.00024832	0	0
LRRC7	57554	broad.mit.edu	37	1	70494040	70494040	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:70494040G>A	ENST00000310961.5	+	19	2300	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E623K|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	623						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCAAAGGAGATTACAGT	0.393000													6	24					0	0	0.000157383	0	0
CCDC69	26112	broad.mit.edu	37	5	150578636	150578636	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:150578636C>T	ENST00000355417.2	-	4	415	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	81										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTCCCTTTCCTTCTCCACC	0.552000													11	67					0	0	0.00136819	0	0
KCNH5	27133	broad.mit.edu	37	14	63447677	63447677	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:63447677C>T	ENST00000322893.7	-	6	1123	c.855G>A	c.(853-855)agG>agA	p.R285R	KCNH5_ENST00000394968.1_Silent_p.R227R|KCNH5_ENST00000394964.2_Silent_p.R227R|KCNH5_ENST00000420622.2_Silent_p.R285R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	285					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATAGTTCATCCTTATGAGCT	0.413000													6	45					0	0	0.00116845	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560961	44560961	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44560961C>T	ENST00000332567.4	-	1	1027	c.675G>A	c.(673-675)aaG>aaA	p.K225K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	225					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATTTGTGCCCCTTGCTGTGGC	0.617000													8	22					0	0	0.000274275	0	0
FGF13	2258	broad.mit.edu	37	X	137717808	137717808	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:137717808G>A	ENST00000315930.6	-	4	1072	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FGF13_ENST00000441825.2_Silent_p.F118F|FGF13_ENST00000370603.3_Silent_p.F147F|FGF13_ENST00000541469.1_Silent_p.F91F|FGF13_ENST00000305414.4_Silent_p.F84F	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	137					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCAGGTGTGAAAAGTTCCT	0.358000													7	5					0	0	0.00198382	0	0
PRR12	57479	broad.mit.edu	37	19	50100028	50100028	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:50100028C>T	ENST00000418929.2	+	4	2448	c.2436C>T	c.(2434-2436)ccC>ccT	p.P812P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	503							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCCAGTCCCTCTCCCAGCG	0.726000													13	21					0	0	0.000566183	0	0
SNX14	57231	broad.mit.edu	37	6	86277278	86277278	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:86277278C>A	ENST00000314673.3	-	5	611	c.435G>T	c.(433-435)ttG>ttT	p.L145F	SNX14_ENST00000513865.1_Missense_Mutation_p.L145F|SNX14_ENST00000508980.1_5'UTR|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L93F|SNX14_ENST00000369627.2_Missense_Mutation_p.L145F|SNX14_ENST00000346348.3_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	145	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAAAGTTTTCCAACACTAATT	0.269000													7	99					0.000673444	0.00297962	0.000673444	1	0
ZNF648	127665	broad.mit.edu	37	1	182026917	182026917	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:182026917C>T	ENST00000339948.3	-	2	436	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCTCTTCCTCTTTGCCCAGT	0.557000													15	36					0	0	0.000308642	0	0
ENTPD3	956	broad.mit.edu	37	3	40464885	40464885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:40464885G>A	ENST00000301825.3	+	9	1326	c.1208G>A	c.(1207-1209)tGg>tAg	p.W403*	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.W403*|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.W403*	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	403						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCACAGAATTGGAGTCAGGTC	0.388000													16	52					0	0	0.000566183	0	0
DNAH9	1770	broad.mit.edu	37	17	11584057	11584057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11584057G>A	ENST00000262442.3	+	19	3662	c.3594G>A	c.(3592-3594)tgG>tgA	p.W1198*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W1198*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1198	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGAAATGGAACAACATAA	0.537000													11	23					0	0	0.00136819	0	0
AMER3	205147	broad.mit.edu	37	2	131520354	131520354	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:131520354G>A	ENST00000423981.1	+	2	819	c.709G>A	c.(709-711)Gac>Aac	p.D237N	AMER3_ENST00000321420.4_Missense_Mutation_p.D237N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCTGTGTGAGGACGTGGCCTC	0.662000													22	123					0	0	0.000586117	0	0
CCDC105	126402	broad.mit.edu	37	19	15131429	15131429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15131429C>T	ENST00000292574.3	+	3	914	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	278					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CACACAGGGTCAGAAAACGCC	0.602000													6	24					0	0	0.00198382	0	0
LPAL2	80350	broad.mit.edu	37	6	160905162	160905162	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:160905162C>T	ENST00000335388.5	-	0	965					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTCCCTTCTGTGTCTGAG	0.527000													15	33					0	0	0.000566183	0	0
FMO1	2326	broad.mit.edu	37	1	171251278	171251278	+	Missense_Mutation	SNP	G	G	A	rs149030329	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:171251278G>A	ENST00000354841.4	+	6	1120	c.989G>A	c.(988-990)gGa>gAa	p.G330E	FMO1_ENST00000367750.3_Missense_Mutation_p.G330E|FMO1_ENST00000402921.2_Missense_Mutation_p.G267E|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	330					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTGCCACTGGATACACATTT	0.413000													14	32					0	0	0.000958276	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126217	121126217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121126217G>A	ENST00000273666.6	+	24	3058	c.2787G>A	c.(2785-2787)tgG>tgA	p.W929*	STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.W929*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.W903*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.W905*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.W905*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	929					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.W929C(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAAATCTTGGAGAAGGAAAG	0.393000													5	21					0	0	0.000602214	0	0
EPHB2	2048	broad.mit.edu	37	1	23234541	23234541	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23234541C>T	ENST00000400191.3	+	12	2250	c.2232C>T	c.(2230-2232)caC>caT	p.H744H	EPHB2_ENST00000374632.3_Silent_p.H745H|EPHB2_ENST00000374630.3_Silent_p.H744H|EPHB2_ENST00000374627.1_Silent_p.H739H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	744	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTATGTTCACCGTGACCTGG	0.557000													31	109					0	0	0.0024448	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31711946	31711946	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:31711946C>T	ENST00000493662.2	+	7	624	c.568C>T	c.(568-570)Cca>Tca	p.P190S	MSH5_ENST00000375740.3_Missense_Mutation_p.P190S|MSH5_ENST00000375703.3_Intron|MSH5_ENST00000375755.3_Intron|MSH5_ENST00000375742.3_Missense_Mutation_p.P190S|MSH5_ENST00000534153.4_Missense_Mutation_p.P190S|MSH5_ENST00000375750.3_Intron|MSH5_ENST00000482280.1_Intron																							TACCCCGATTCCACTGCTGAT	0.527000													82	167					0	0	0.000781405	0	0
UNC5D	137970	broad.mit.edu	37	8	35624420	35624420	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:35624420G>A	ENST00000287272.2	+	14	2127	c.2106_splice	c.e14-1	p.E703_splice	UNC5D_ENST00000404895.2_Splice_Site_p.E772_splice|UNC5D_ENST00000449677.1_Splice_Site_p.E348_splice|UNC5D_ENST00000420357.1_Splice_Site_p.E705_splice|UNC5D_ENST00000416672.1_Splice_Site_p.E777_splice|UNC5D_ENST00000453357.2_Splice_Site_p.E767_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	772	Interaction with DCC (By similarity).				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCCCTGCAGGAAGTCCCGTT	0.562000													7	25					0	0	0.000157383	0	0
IDO2	169355	broad.mit.edu	37	8	39873107	39873107	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:39873107C>T	ENST00000502986.2	+	11	1491	c.1249C>T	c.(1249-1251)Cac>Tac	p.H417Y	IDO2_ENST00000389060.4_Missense_Mutation_p.H404Y|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	404					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTCAATCCTTCACCCACGTGG	0.577000													16	35					0	0	0.000308642	0	0
NOC2L	26155	broad.mit.edu	37	1	892520	892520	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:892520C>T	ENST00000327044.6	-	3	362	c.313G>A	c.(313-315)Gag>Aag	p.E105K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	105	Poly-Glu.					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCCTCTTCCTCCTCAGAGCTG	0.587000													50	178					0	0	0.000781405	0	0
DSG4	147409	broad.mit.edu	37	18	28991347	28991347	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28991347G>A	ENST00000359747.4	+	14	2377	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G764E	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	764					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTACCATGGGAACCCTGCGG	0.582000													5	40					0	0	0.000602214	0	0
NBEAL1	65065	broad.mit.edu	37	2	204078284	204078284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:204078284C>T	ENST00000449802.1	+	54	8224	c.7891C>T	c.(7891-7893)Cat>Tat	p.H2631Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2631							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTGCCTATCCATTGTGTTTG	0.383000													193	664					0	0	0.000781405	0	0
NRCAM	4897	broad.mit.edu	37	7	107820675	107820675	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:107820675G>A	ENST00000379028.3	-	25	3313	c.2843C>T	c.(2842-2844)cCa>cTa	p.P948L	NRCAM_ENST00000413765.2_Missense_Mutation_p.P929L|NRCAM_ENST00000379022.4_Missense_Mutation_p.P948L|NRCAM_ENST00000379024.4_Missense_Mutation_p.P929L|NRCAM_ENST00000351718.4_Missense_Mutation_p.P932L|NRCAM_ENST00000425651.2_Missense_Mutation_p.P948L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	948					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACCTCCTTCTGGAGTATTAAA	0.507000													10	48					0	0	0.00136819	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185121	193185121	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:193185121G>A	ENST00000342695.4	-	10	1420	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	ATP13A4_ENST00000295548.3_Silent_p.A366A|ATP13A4_ENST00000392443.3_Silent_p.A366A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	366					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGTACCACGGCTCTCACGG	0.463000													14	30					0	0	0.000219431	0	0
DNAH5	1767	broad.mit.edu	37	5	13701430	13701430	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13701430A>T	ENST00000265104.4	-	77	13558	c.13454T>A	c.(13453-13455)tTt>tAt	p.F4485Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4485					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGGTTAAAAAAACCCGTCAT	0.428000									Kartagener syndrome				12	48					0	0	0.000219431	0	0
OR8K1	390157	broad.mit.edu	37	11	56114225	56114225	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:56114225G>A	ENST00000279783.2	+	1	805	c.711G>A	c.(709-711)agG>agA	p.R237R		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGAACTCAAGGAAAGGGAGGT	0.403000										HNSCC(65;0.19)			11	17					0	0	0.000978159	0	0
DUS4L	11062	broad.mit.edu	37	7	107211656	107211656	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:107211656C>T	ENST00000265720.3	+	4	545	c.183C>T	c.(181-183)gcC>gcT	p.A61A	DUS4L_ENST00000402620.1_5'UTR	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	61					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TGATTGTTGCCGCTGATTTTG	0.338000													25	53					0	0	0.000720815	0	0
SPTB	6710	broad.mit.edu	37	14	65240078	65240078	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65240078C>T	ENST00000389722.3	-	24	5091	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K	SPTB_ENST00000389720.3_Missense_Mutation_p.E1680K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1680K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1680K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1680K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1680					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGCGCTCTTCCGCCACGTCC	0.557000													23	106					0	0	0.000878237	0	0
IGSF3	3321	broad.mit.edu	37	1	117122381	117122381	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117122381G>A	ENST00000369486.3	-	10	3732	c.2967C>T	c.(2965-2967)gcC>gcT	p.A989A	IGSF3_ENST00000369483.1_Silent_p.A1009A|IGSF3_ENST00000318837.6_Silent_p.A1009A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	989	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGGAATACCAGGCCACAGCGA	0.607000													9	44					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179585332	179585332	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179585332C>T	ENST00000589042.1	-	80	23381	c.23157G>A	c.(23155-23157)gtG>gtA	p.V7719V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V6475V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V7402V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7402	Ig-like 59.						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)			ATTGGAGAATCACATCAGAAC	0.398000													5	28					0	0	0.000602214	0	0
ACAD11	84129	broad.mit.edu	37	3	132338315	132338315	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:132338315G>T	ENST00000264990.6	-	10	2243	c.1272C>A	c.(1270-1272)ctC>ctA	p.L424L	ACAD11_ENST00000481970.2_Silent_p.L424L|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Silent_p.L424L	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTCTTACCTTGAGTTTATCAA	0.294000													6	115					0.00198382	0.0087276	0.00198382	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574325	140574325	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140574325T>A	ENST00000239446.4	+	1	2384	c.2200T>A	c.(2200-2202)Ttt>Att	p.F734I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		734					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGTCCTTTTCCAGGGCA	0.657000													25	98					0	0	0.000491102	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9091108G>A	ENST00000397910.4	-	1	910	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAAGGAAGGAAGAATAAAG	0.463000													18	62					0	0	0.00121646	0	0
CNKSR1	10256	broad.mit.edu	37	1	26511561	26511561	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:26511561G>A	ENST00000531191.1	+	13	1425	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CNKSR1_ENST00000361530.6_Missense_Mutation_p.D398N|CNKSR1_ENST00000374253.5_Missense_Mutation_p.D405N			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	405	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGCCGGACTGTGACGG	0.701000													22	29					0	0	0.00229938	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513590	142513590	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:142513590A>T	ENST00000378004.3	+	19	2112	c.1757A>T	c.(1756-1758)aAg>aTg	p.K586M	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K586M	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	586	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCTCGGAAGAAGAGCAGT	0.532000													20	77					0	0	0.00121646	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447342	101447342	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:101447342G>A	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							CCTGTCCTGTGGATCGATGAT	0.388000													10	54					0	0	0.000978159	0	0
ERC2	26059	broad.mit.edu	37	3	55922428	55922428	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:55922428G>A	ENST00000288221.6	-	14	2808	c.2553C>T	c.(2551-2553)atC>atT	p.I851I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	851						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCTCCAGGATCTCCTCCA	0.537000													30	90					0	0	0.000491102	0	0
COLGALT1	79709	broad.mit.edu	37	19	17690299	17690299	+	Silent	SNP	C	C	T	rs150637824	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17690299C>T	ENST00000252599.4	+	10	1395	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		AGGTGGTGGACCGGGGGCTGC	0.562000													42	101					0	0	0.000589545	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146734	156146734	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156146734C>T	ENST00000368285.3	+	15	2499	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	SEMA4A_ENST00000355014.2_Silent_p.T744T|SEMA4A_ENST00000368282.1_Silent_p.T744T|SEMA4A_ENST00000368286.2_Silent_p.T612T|SEMA4A_ENST00000368284.1_Silent_p.T612T	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	744					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AATGCAGGACCTCTGCCAGTG	0.622000													9	34					0	0	0.000978159	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:9561263C>T	ENST00000378429.3	-	5	1065	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_ENST00000378423.1_Missense_Mutation_p.M173I|PAK7_ENST00000353224.5_Missense_Mutation_p.M173I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	173	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTTCATTTTCATTACGTGCC	0.463000													31	123					0	0	0.000692331	0	0
MAP2K6	5608	broad.mit.edu	37	17	67411137	67411137	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:67411137G>A	ENST00000590474.1	+	1	299	c.12G>A	c.(10-12)tcG>tcA	p.S4S		NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	4					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGTCTCAGTCGAAAGGTAAGA	0.433000													43	80					0	0	0.000781405	0	0
MCM3AP	8888	broad.mit.edu	37	21	47678887	47678887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:47678887G>A	ENST00000397708.1	-	17	3954	c.3700C>T	c.(3700-3702)Cag>Tag	p.Q1234*	MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.Q1234*|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1234					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAAGCTCCTGGAGGGTCTCC	0.507000													15	93					0	0	0.00074312	0	0
PRPF8	10594	broad.mit.edu	37	17	1585460	1585460	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:1585460G>A	ENST00000572621.1	-	3	662	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P133S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	133						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGACCCAGGGAATCTCATTG	0.537000													22	23					0	0	0.00188189	0	0
REG3A	5068	broad.mit.edu	37	2	79385792	79385792	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:79385792G>A	ENST00000393878.1	-	2	434	c.180C>T	c.(178-180)tcC>tcT	p.S60S	REG3A_ENST00000305165.2_Silent_p.S60S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.S60S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	60	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCTGTCCAGGATTTTGGTG	0.547000													20	30					0	0	0.000878237	0	0
BDP1	55814	broad.mit.edu	37	5	70845413	70845413	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:70845413C>T	ENST00000358731.4	+	34	7238	c.6975C>T	c.(6973-6975)acC>acT	p.T2325T	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2325					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGTGAATACCGAAGAAAGGG	0.408000													11	78					0	0	0.00136819	0	0
DCBLD2	131566	broad.mit.edu	37	3	98538094	98538094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:98538094C>T	ENST00000326840.6	-	8	1401	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	DCBLD2_ENST00000326857.9_Missense_Mutation_p.E347K	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	347	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACTGGTATTCATCAGTGGCA	0.388000													4	9					0	0	0.00024832	0	0
DYTN	391475	broad.mit.edu	37	2	207575313	207575313	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207575313T>A	ENST00000452335.2	-	2	145	c.29A>T	c.(28-30)aAt>aTt	p.N10I		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	10						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTCAATACTATTAAGAGCATC	0.318000													10	29					0	0	0.000442599	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572291	90572291	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:90572291C>T	ENST00000551025.1	+	0	2300							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAAGGACATCCTGAGAAATAT	0.388000													74	122					0	0	0.000781405	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516557	140516557	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140516557C>T	ENST00000231134.5	+	1	1758	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCTGTTTGCCCTCAGGTCG	0.697000													23	89					0	0	0.000878237	0	0
EVPL	2125	broad.mit.edu	37	17	74004096	74004096	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:74004096C>T	ENST00000301607.3	-	22	5443	c.5190G>A	c.(5188-5190)ggG>ggA	p.G1730G	EVPL_ENST00000586740.1_Silent_p.G1752G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1730	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCCACAGGGCCCCGAGGTGG	0.642000													11	31					0	0	0.000978159	0	0
OR1B1	347169	broad.mit.edu	37	9	125391017	125391017	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125391017G>A	ENST00000304833.3	-	1	835	c.798C>T	c.(796-798)ttC>ttT	p.F266F	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGAGGCTGGAAGTAGACAC	0.522000													14	38					0	0	0.000308642	0	0
CCDC146	57639	broad.mit.edu	37	7	76903933	76903933	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:76903933A>T	ENST00000285871.4	+	11	1531	c.1404A>T	c.(1402-1404)gaA>gaT	p.E468D	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E182D	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	468										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAATTGATGAAAAGGAACAAA	0.358000													11	26					0	0	0.000308642	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47611798	47611798	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:47611798C>T	ENST00000302514.3	-	2	1081	c.565G>A	c.(565-567)Ggc>Agc	p.G189S		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	189	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCGTCCGAGCCCACCAAGCTG	0.766000													5	8					0	0	0.000602214	0	0
ADCY10	55811	broad.mit.edu	37	1	167815065	167815065	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167815065C>T	ENST00000367848.1	-	21	2964	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.E762K|ADCY10_ENST00000367851.4_Missense_Mutation_p.E915K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	915					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCTCCAGTTCACGAAGCTGT	0.498000													14	27					0	0	0.000422831	0	0
GPR68	8111	broad.mit.edu	37	14	91700924	91700924	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:91700924C>T	ENST00000531499.2	-	2	810	c.471G>A	c.(469-471)ctG>ctA	p.L157L	GPR68_ENST00000238699.3_Silent_p.L167L|GPR68_ENST00000535815.1_Silent_p.L157L			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	157					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTCGTGCATCAGGAAGTAGA	0.622000													11	29					0	0	0.000978159	0	0
RIMS2	9699	broad.mit.edu	37	8	105263289	105263289	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:105263289C>T	ENST00000507740.1	+	21	3407	c.3171C>T	c.(3169-3171)gtC>gtT	p.V1057V	RIMS2_ENST00000339750.2_Silent_p.V179V|RIMS2_ENST00000436393.2_Silent_p.V1261V|RIMS2_ENST00000406091.3_Silent_p.V1243V|RIMS2_ENST00000262231.10_Silent_p.V1082V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1305					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATAACGGAGTCTGCATAGCCA	0.408000										HNSCC(12;0.0054)			6	32					0	0	0.00116845	0	0
OXSM	54995	broad.mit.edu	37	3	25832607	25832607	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:25832607C>T	ENST00000280701.3	+	2	195	c.96C>T	c.(94-96)ttC>ttT	p.F32F	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Silent_p.F32F	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	32					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGAAGTTTTTCGGAACTGTGC	0.418000													46	104					0	0	0.000781405	0	0
POLR3A	11128	broad.mit.edu	37	10	79785499	79785499	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:79785499G>A	ENST00000372371.3	-	3	336	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	67					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCACATGGACGATCCTTCTCA	0.502000													13	63					0	0	0.000219431	0	0
IP6K1	9807	broad.mit.edu	37	3	49765668	49765668	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49765668G>A	ENST00000321599.4	-	5	961	c.660C>T	c.(658-660)ccC>ccT	p.P220P	IP6K1_ENST00000468463.1_Silent_p.P220P|IP6K1_ENST00000460540.1_Silent_p.P55P|IP6K1_ENST00000395238.1_Silent_p.P55P	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	220	Substrate binding (By similarity).				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CCAACACGCAGGGGTACTTGA	0.592000													17	64					0	0	0.00074312	0	0
RASL11A	387496	broad.mit.edu	37	13	27847274	27847274	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:27847274C>T	ENST00000241463.4	+	4	990	c.372C>T	c.(370-372)atC>atT	p.I124I	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	124	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACTTGTCCATCCGACCCCTTT	0.572000													8	46					0	0	0.000157383	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948796	209948796	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:209948796G>A	ENST00000367024.1	+	10	1393	c.877G>A	c.(877-879)Gag>Aag	p.E293K	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E29K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E29K|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E273K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E293K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	293						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGTGCTGGAGGAGAAAATGAA	0.512000													12	39					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179611120	179611120	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179611120A>T	ENST00000360870.5	-	46	16229	c.16007T>A	c.(16006-16008)tTt>tAt	p.F5336Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						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)			GTCAGGAGTAAATTCGGGAAC	0.358000													7	15					0	0	0.00198382	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111847	142111847	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142111847G>A	ENST00000390378.1	-	0	12																											CAGCAGAGGAGCCCGGGGCCC	0.602000													4	19					0	0	0.00116845	0	0
AADAC	13	broad.mit.edu	37	3	151545949	151545949	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:151545949G>A	ENST00000232892.6	+	5	1315	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	397					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGCTAAAGGAAAATCTATA	0.303000													13	19					0	0	0.00136819	0	0
MMRN1	22915	broad.mit.edu	37	4	90844324	90844324	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:90844324G>A	ENST00000394980.1	+	5	1175	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	MMRN1_ENST00000394981.1_Missense_Mutation_p.E252K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E286K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E28K			Q13201	MMRN1_HUMAN	multimerin 1	286					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTAGCCCAGGAACAGCAAAG	0.483000													17	74					0	0	0.000566183	0	0
PHF10	55274	broad.mit.edu	37	6	170112562	170112562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:170112562G>A	ENST00000339209.4	-	8	1000	c.877C>T	c.(877-879)Cct>Tct	p.P293S	PHF10_ENST00000366780.4_Missense_Mutation_p.P291S	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	293	Essential to induce neural progenitor proliferation (By similarity).|SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCTAGAGCAGGGAGCTCAGGA	0.473000													33	82					0	0	0.00128727	0	0
MRPL19	9801	broad.mit.edu	37	2	75882273	75882273	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:75882273T>C	ENST00000393909.2	+	6	766	c.741T>C	c.(739-741)ctT>ctC	p.L247L	MRPL19_ENST00000409374.1_Silent_p.L247L|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	247					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						GATTTGATCTTTGTTTAACTG	0.348000													13	29					0	0	0.000422831	0	0
C1orf173	127254	broad.mit.edu	37	1	75037778	75037778	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:75037778C>T	ENST00000326665.5	-	14	3834	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1206	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGGTGCCCTTCCTTCAGGGCC	0.592000													29	103					0	0	0.000491102	0	0
TENM2	57451	broad.mit.edu	37	5	167420062	167420062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:167420062G>A	ENST00000519204.1	+	4	816	c.698G>A	c.(697-699)aGg>aAg	p.R233K	TENM2_ENST00000518659.1_Missense_Mutation_p.R354K|TENM2_ENST00000545108.1_Missense_Mutation_p.R354K|TENM2_ENST00000403607.2_Missense_Mutation_p.R187K|TENM2_ENST00000520394.1_Missense_Mutation_p.R163K					teneurin transmembrane protein 2																		CTGCTGCCCAGGAATACTTTC	0.597000													11	38					0	0	0.00136819	0	0
UROC1	131669	broad.mit.edu	37	3	126229626	126229626	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:126229626C>A	ENST00000290868.2	-	2	191	c.138G>T	c.(136-138)agG>agT	p.R46S	UROC1_ENST00000383579.3_Missense_Mutation_p.R46S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	46					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCAGGGCGTTCCTCAGCGCCA	0.642000													10	36					0.000978159	0.00432453	0.000978159	1	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247695301C>T	ENST00000366487.3	-	2	874	c.513G>A	c.(511-513)ggG>ggA	p.G171G	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000													16	19					0	0	0.000422831	0	0
C6	729	broad.mit.edu	37	5	41160246	41160246	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41160246G>A	ENST00000263413.3	-	11	1946	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	C6_ENST00000337836.5_Missense_Mutation_p.S561F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	561					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATACTTACTGGATTTATAATC	0.403000													15	27					0	0	0.000422831	0	0
GRIN3B	116444	broad.mit.edu	37	19	1003133	1003133	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:1003133C>T	ENST00000234389.3	+	2	450	c.431C>T	c.(430-432)cCa>cTa	p.P144L		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	144					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCCCAGAACCCATTCCACCTG	0.667000													6	4					0	0	0.00198382	0	0
MYH4	4622	broad.mit.edu	37	17	10357202	10357202	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10357202C>T	ENST00000255381.2	-	23	2802	c.2691_splice	c.e23-1	p.E898_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	898					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATCTGCTTCCTAAAGGGAG	0.368000													59	85					0	0	0.000781405	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039941	17039941	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17039941C>T	ENST00000443236.1	-	24	3127	c.3096G>A	c.(3094-3096)gtG>gtA	p.V1032V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	985						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGACAAGGCCACACGGGCAT	0.587000													16	43					0	0	0.000566183	0	0
MYO18B	84700	broad.mit.edu	37	22	26164179	26164179	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26164179C>T	ENST00000335473.7	+	4	546	c.296C>T	c.(295-297)cCt>cTt	p.P99L	MYO18B_ENST00000536101.1_Missense_Mutation_p.P99L|MYO18B_ENST00000407587.2_Missense_Mutation_p.P99L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	99	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAAGCTCTCCTGGGAGCTCA	0.587000													50	95					0	0	0.000781405	0	0
IREB2	3658	broad.mit.edu	37	15	78789604	78789604	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78789604C>T	ENST00000258886.8	+	21	2881	c.2732C>T	c.(2731-2733)tCt>tTt	p.S911F		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	911							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAAACATTTTCTTTAACATTT	0.348000													8	39					0	0	0.000157383	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367487	234367487	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:234367487G>A	ENST00000366618.3	+	3	753	c.608_splice	c.e3+1	p.R203_splice	SLC35F3_ENST00000366617.3_Splice_Site_p.R134_splice	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CAGCGATACAGGTAGGCGCGT	0.602000													24	72					0	0	0.00127121	0	0
GPR128	84873	broad.mit.edu	37	3	100413737	100413737	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:100413737C>T	ENST00000273352.3	+	16	2554	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	GPR128_ENST00000475887.1_Silent_p.F467F|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	762					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTATAATTTCCTCAGGTCAT	0.458000													15	68					0	0	0.000422831	0	0
SLC30A9	10463	broad.mit.edu	37	4	42080259	42080259	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:42080259C>T	ENST00000264451.6	+	17	1759	c.1579C>T	c.(1579-1581)Cta>Tta	p.L527L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	527					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTGAAGAACTAGAGACCTT	0.294000													23	101					0	0	0.00047179	0	0
GIGYF2	26058	broad.mit.edu	37	2	233674505	233674505	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:233674505C>A	ENST00000373566.3	+	17	2145	c.1948C>A	c.(1948-1950)Cag>Aag	p.Q650K	GIGYF2_ENST00000452341.2_Missense_Mutation_p.Q459K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.Q649K|GIGYF2_ENST00000409547.1_Missense_Mutation_p.Q628K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.Q622K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.Q628K|GIGYF2_ENST00000409480.1_Missense_Mutation_p.Q650K			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	628	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCTGCAGTACCAGCAGTTTTT	0.443000													7	143					0.000274275	0.00121629	0.000274275	1	0
EIF4G1	1981	broad.mit.edu	37	3	184043652	184043652	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184043652C>T	ENST00000342981.4	+	20	3552	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P	EIF4G1_ENST00000411531.1_Silent_p.P1006P|EIF4G1_ENST00000350481.5_Silent_p.P881P|EIF4G1_ENST00000427845.1_Silent_p.P959P|EIF4G1_ENST00000434061.2_Silent_p.P850P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Silent_p.P1045P|EIF4G1_ENST00000435046.2_Silent_p.P849P|EIF4G1_ENST00000382330.3_Silent_p.P1052P|EIF4G1_ENST00000424196.1_Silent_p.P1052P|EIF4G1_ENST00000392537.2_Silent_p.P958P|EIF4G1_ENST00000441154.1_Silent_p.P882P|EIF4G1_ENST00000414031.1_Silent_p.P1005P|EIF4G1_ENST00000319274.6_Silent_p.P1045P|EIF4G1_ENST00000352767.3_Silent_p.P1052P	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1045	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGACTTCCCCTTGTGGATG	0.557000													68	208					0	0	0.000781405	0	0
NOBOX	135935	broad.mit.edu	37	7	144097286	144097286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:144097286C>T	ENST00000467773.1	-	5	963	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	322					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ACCAGTGAGCCGGCCCCCTTT	0.582000													18	74					0	0	0.00188189	0	0
RHPN2	85415	broad.mit.edu	37	19	33482830	33482830	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:33482830G>C	ENST00000254260.3	-	13	1578	c.1543C>G	c.(1543-1545)Cga>Gga	p.R515G	RHPN2_ENST00000400226.4_Missense_Mutation_p.R364G	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	515	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CGGATGCTTCGAGGAGGCGTC	0.547000													12	37					0	0	0.000422831	0	0
DPH5	51611	broad.mit.edu	37	1	101479281	101479281	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:101479281G>A	ENST00000370109.3	-	4	466	c.354C>T	c.(352-354)ggC>ggT	p.G118G	DPH5_ENST00000488176.1_Silent_p.G118G|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.G118G	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	118					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AACCACAGCAGCCTACAGCAT	0.343000													71	79					0	0	0.000781405	0	0
LRRC49	54839	broad.mit.edu	37	15	71302271	71302271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:71302271G>A	ENST00000260382.5	+	13	1793	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	LRRC49_ENST00000560691.1_Nonsense_Mutation_p.W217*|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Nonsense_Mutation_p.W467*|LRRC49_ENST00000560369.1_Nonsense_Mutation_p.W516*|LRRC49_ENST00000544974.2_Nonsense_Mutation_p.W501*|LRRC49_ENST00000560158.2_Nonsense_Mutation_p.W199*	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	511						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTACACTCTGGAAATACTATG	0.358000													10	47					0	0	0.000673444	0	0
NRP1	8829	broad.mit.edu	37	10	33474637	33474637	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:33474637C>T	ENST00000265371.4	-	16	2875	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	NRP1_ENST00000395995.1_Missense_Mutation_p.E784K|NRP1_ENST00000374867.2_Missense_Mutation_p.E784K			O14786	NRP1_HUMAN	neuropilin 1	784	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTCCGATTTCGCCCTCGAAA	0.393000													16	35					0	0	0.00074312	0	0
LRP1B	53353	broad.mit.edu	37	2	141283561	141283561	+	Splice_Site	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141283561A>G	ENST00000389484.3	-	49	8849	c.7876_splice	c.e49-1	p.N2626_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2626	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTGTGTTATCTAGAAGAA	0.363000										TSP Lung(27;0.18)			5	12					0	0	0.00198382	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760610	92760610	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92760610C>T	ENST00000318238.4	-	5	5891	c.4675G>A	c.(4675-4677)Ggt>Agt	p.G1559S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.G1559S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G1559S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1559										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCCTACCACTTCTGAGT	0.373000													7	22					0	0	0.00198382	0	0
GON4L	54856	broad.mit.edu	37	1	155792092	155792092	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:155792092G>A	ENST00000437809.1	-	4	995	c.873C>T	c.(871-873)gtC>gtT	p.V291V	GON4L_ENST00000271883.5_Silent_p.V291V|GON4L_ENST00000361040.5_Silent_p.V291V|GON4L_ENST00000368331.1_Silent_p.V291V|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	291					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGATGTTTCGGACATTGACTG	0.433000													26	128					0	0	0.001512	0	0
SVEP1	79987	broad.mit.edu	37	9	113275290	113275290	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:113275290G>A	ENST00000401783.2	-	5	1555	c.1219C>T	c.(1219-1221)Cac>Tac	p.H407Y	SVEP1_ENST00000374461.1_Missense_Mutation_p.H384Y|SVEP1_ENST00000302728.8_Missense_Mutation_p.H407Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.H384Y|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	407	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCCAGGGTGACATCGGACC	0.493000													22	53					0	0	0.00229938	0	0
C2orf78	388960	broad.mit.edu	37	2	74042871	74042871	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74042871C>T	ENST00000409561.1	+	3	1642	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	507										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATAAAGCTTCCGAGCCTATCC	0.473000													9	15					0	0	0.000274275	0	0
ZNF407	55628	broad.mit.edu	37	18	72775756	72775756	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:72775756G>A	ENST00000299687.5	+	8	6079	c.6079G>A	c.(6079-6081)Gag>Aag	p.E2027K		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCGGGCAGGAGGTCTCCCA	0.692000													11	36					0	0	0.000219431	0	0
RRBP1	6238	broad.mit.edu	37	20	17596138	17596138	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17596138C>T	ENST00000377813.1	-	23	4291	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E1330K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E897K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E671K|RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000360807.4_Missense_Mutation_p.E897K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1330					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CGGAGCTTCTCCAATTCTTCT	0.602000													10	32					0	0	0.00185496	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752617	156752617	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156752617C>T	ENST00000347377.6	+	17	2384	c.1953C>T	c.(1951-1953)atC>atT	p.I651I	CYFIP2_ENST00000521420.1_Silent_p.I625I|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.I455I|CYFIP2_ENST00000377576.3_Silent_p.I651I|CYFIP2_ENST00000435847.2_Silent_p.I350I|CYFIP2_ENST00000541131.1_Silent_p.I576I|CYFIP2_ENST00000318218.6_Silent_p.I676I|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	676					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGACCATATCCTGGAAACCA	0.542000													43	175					0	0	0.000509022	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931004	157931004	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:157931004G>A	ENST00000389413.3	-	7	1217	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R395C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R355C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R372C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R334C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	372						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R372C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTCTCCACGGAGGGTGGCC	0.677000													8	40					0	0	0.000274275	0	0
GJD2	57369	broad.mit.edu	37	15	35045253	35045253	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:35045253C>T	ENST00000290374.4	-	2	868	c.392G>A	c.(391-393)gGg>gAg	p.G131E		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	131	Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCCCCACCCCCAGTTCCTCC	0.562000													24	82					0	0	0.000375601	0	0
MOB3B	79817	broad.mit.edu	37	9	27455544	27455544	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:27455544G>A	ENST00000262244.5	-	2	429	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	2							metal ion binding|protein binding										CAGGGCTATGGACATGGTCTT	0.498000													22	89					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179581857	179581857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179581857C>T	ENST00000589042.1	-	88	25828	c.25604G>A	c.(25603-25605)gGa>gAa	p.G8535E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7291E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8218E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8218	Ig-like 68.						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)			AGAGTCTTTTCCAGCGATGTT	0.433000													12	36					0	0	0.000219431	0	0
MRPL55	128308	broad.mit.edu	37	1	228295420	228295420	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228295420C>T	ENST00000366731.5	-	5	1078	c.285G>A	c.(283-285)caG>caA	p.Q95Q	MRPL55_ENST00000366747.3_Silent_p.Q59Q|MRPL55_ENST00000411464.2_Silent_p.Q59Q|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000391867.3_Silent_p.Q59Q|MRPL55_ENST00000366733.1_Silent_p.Q59Q|MRPL55_ENST00000366732.1_Silent_p.Q56Q|MRPL55_ENST00000366734.1_Silent_p.Q59Q|MRPL55_ENST00000366738.1_Silent_p.Q95Q|MRPL55_ENST00000366739.1_Silent_p.Q59Q|MRPL55_ENST00000430433.1_Silent_p.Q95Q|MRPL55_ENST00000348259.5_Silent_p.Q59Q|MRPL55_ENST00000366740.1_Silent_p.Q59Q|MRPL55_ENST00000336300.5_Silent_p.Q59Q|MRPL55_ENST00000366735.1_Silent_p.Q59Q|MRPL55_ENST00000366744.1_Silent_p.Q59Q|MRPL55_ENST00000366736.1_Silent_p.Q59Q|MRPL55_ENST00000366746.3_Silent_p.Q59Q|MRPL55_ENST00000336520.3_Silent_p.Q59Q|MRPL55_ENST00000295008.4_Silent_p.Q59Q|MRPL55_ENST00000366741.1_Silent_p.Q59Q|MRPL55_ENST00000366742.1_Silent_p.Q59Q			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	59					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				TGGAGCCATCCTGCTTCACCA	0.647000													19	35					0	0	0.00152264	0	0
MYOM2	9172	broad.mit.edu	37	8	2044150	2044150	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2044150G>A	ENST00000262113.4	+	18	2330	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D	MYOM2_ENST00000523438.1_Missense_Mutation_p.G155D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	730	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATGACCCTCGGCTGGAAGGTC	0.567000													31	81					0	0	0.00111076	0	0
C10orf71	118461	broad.mit.edu	37	10	50531439	50531439	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50531439C>T	ENST00000374144.3	+	3	1137	c.849C>T	c.(847-849)caC>caT	p.H283H	C10orf71_ENST00000323868.4_Silent_p.H283H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	283										endometrium(1)	1						GGAATGCCCACCAACCAAAGC	0.537000													6	22					0	0	0.00116845	0	0
OR4D5	219875	broad.mit.edu	37	11	123810527	123810527	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123810527C>T	ENST00000307033.2	+	1	278	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCTTTCTTTCCTGGACTTTT	0.463000													37	59					0	0	0.000953801	0	0
AOC1	26	broad.mit.edu	37	7	150555106	150555106	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150555106C>T	ENST00000493429.1	+	4	2132	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	AOC1_ENST00000467291.1_Silent_p.Y516Y|AOC1_ENST00000360937.4_Silent_p.Y516Y|AOC1_ENST00000416793.2_Silent_p.Y516Y|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		TGGTGCACTACCGCGTAGACC	0.572000													33	66					0	0	0.00148497	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442945	44442945	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44442945C>T	ENST00000532642.1	+	7	745	c.648C>T	c.(646-648)ctC>ctT	p.L216L	ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	113					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTTACCCTCCTTCTGGAGA	0.507000													8	51					0	0	0.000157383	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891160	4891160	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4891160C>T	ENST00000381781.2	-	3	926	c.927G>A	c.(925-927)aaG>aaA	p.K309K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	309					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAACTTTGGCCTTGAGGCTGG	0.592000													63	184					0	0	0.000781405	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479658	156479658	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:156479658G>A	ENST00000339252.3	-	3	919	c.387C>T	c.(385-387)gtC>gtT	p.V129V	HAVCR1_ENST00000544197.1_Silent_p.V129V|HAVCR1_ENST00000523175.1_Silent_p.V129V|HAVCR1_ENST00000522693.1_Silent_p.V129V|HAVCR1_ENST00000425854.1_Silent_p.V129V	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	129					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTAGTCGTGACCTTGGCTG	0.483000													90	402					0	0	0.000781405	0	0
TRIO	7204	broad.mit.edu	37	5	14369570	14369570	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:14369570G>A	ENST00000344204.4	+	18	3178	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1052K|TRIO_ENST00000509967.2_Missense_Mutation_p.E1003K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1052					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCAAACTCTGAGACGGACCA	0.602000													9	57					0	0	0.000442599	0	0
GRB10	2887	broad.mit.edu	37	7	50672025	50672025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:50672025G>A	ENST00000403097.1	-	15	2201	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	GRB10_ENST00000402497.1_Missense_Mutation_p.P422L|GRB10_ENST00000402578.1_Missense_Mutation_p.P422L|GRB10_ENST00000335866.3_Missense_Mutation_p.P422L|GRB10_ENST00000401949.1_Missense_Mutation_p.P480L|GRB10_ENST00000406641.1_Missense_Mutation_p.P422L|GRB10_ENST00000398810.2_Missense_Mutation_p.P422L|GRB10_ENST00000357271.5_Missense_Mutation_p.P434L|GRB10_ENST00000439599.1_Missense_Mutation_p.P474L|GRB10_ENST00000398812.2_Missense_Mutation_p.P480L|GRB10_ENST00000407526.1_Missense_Mutation_p.P422L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	480					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TAGGGTAGAAGGGTGGAGGGG	0.493000									Russell-Silver syndrome				33	87					0	0	0.00128727	0	0
OBSCN	84033	broad.mit.edu	37	1	228509535	228509535	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228509535C>T	ENST00000570156.2	+	66	17938	c.17864C>T	c.(17863-17865)tCc>tTc	p.S5955F	OBSCN_ENST00000422127.1_Missense_Mutation_p.S4998F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S2632F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2117F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S4998F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4998	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGAGAGCTCCTCTGGGGGT	0.617000													13	125					0	0	0.000566183	0	0
CEP152	22995	broad.mit.edu	37	15	49073521	49073521	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:49073521G>A	ENST00000380950.2	-	12	1636	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	CEP152_ENST00000325747.5_Silent_p.L390L|CEP152_ENST00000399334.3_Silent_p.L483L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	483					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGATTCATAGAGAGAAATTT	0.299000													12	108					0	0	0.000219431	0	0
INPP5D	3635	broad.mit.edu	37	2	234106806	234106806	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:234106806C>T	ENST00000359570.5	+	27	2723	c.2723C>T	c.(2722-2724)cCc>cTc	p.P908L	INPP5D_ENST00000450745.1_Missense_Mutation_p.P672L|INPP5D_ENST00000455936.2_Missense_Mutation_p.P672L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	920					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGTGGGGCCCTTTGGGCCA	0.632000													6	28					0	0	0.00198382	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214391	67214391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:67214391C>T	ENST00000290881.7	-	3	1049	c.123G>A	c.(121-123)tgG>tgA	p.W41*	KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	41	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGACTGAGACCAGGGGTACA	0.677000													20	36					0	0	0.00121646	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906161	906161	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:906161C>T	ENST00000379409.2	+	5	537	c.507C>T	c.(505-507)gcC>gcT	p.A169A	PLEKHN1_ENST00000379407.2_Intron|PLEKHN1_ENST00000379410.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	169	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCCCGGGCCCCCAGAGGCA	0.672000													13	36					0	0	0.000219431	0	0
SMYD1	150572	broad.mit.edu	37	2	88405880	88405880	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:88405880G>A	ENST00000419482.2	+	8	1103	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	SMYD1_ENST00000444564.2_Missense_Mutation_p.E327K|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGAGAAGCAGGAGCCAGTGTT	0.522000													14	63					0	0	0.000422831	0	0
GALNT13	114805	broad.mit.edu	37	2	154996859	154996859	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:154996859C>T	ENST00000392825.3	+	4	719	c.152C>T	c.(151-153)tCa>tTa	p.S51L	GALNT13_ENST00000409237.1_Missense_Mutation_p.S51L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	51						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCTGTTATTTCAAGAAACCAA	0.353000													8	18					0	0	0.000274275	0	0
F13B	2165	broad.mit.edu	37	1	197026215	197026215	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197026215C>T	ENST00000367412.1	-	7	1142	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	367	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGAAGGTAGCCGCTTTTACAT	0.408000													18	39					0	0	0.000375601	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122964821	122964821	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:122964821T>A	ENST00000543897.1	-	9	2697	c.342A>T	c.(340-342)caA>caT	p.Q114H	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q352H|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q114H			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	352						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTATTCTGTTGTATTTCTC	0.353000													4	10					0	0	0.000602214	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709328	128709328	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:128709328C>T	ENST00000392665.2	-	2	955	c.811G>A	c.(811-813)Gac>Aac	p.D271N	KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D290N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	290					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATTCAAAGTCCTGCTGGAGA	0.478000													8	49					0	0	0.000274275	0	0
ZNF189	7743	broad.mit.edu	37	9	104171635	104171635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:104171635C>T	ENST00000374861.3	+	3	1827	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R529*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R487*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R529*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TAATCTTATTCGACATCAGGG	0.423000													20	25					0	0	0.000375601	0	0
LRP1B	53353	broad.mit.edu	37	2	141115608	141115608	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141115608G>A	ENST00000389484.3	-	74	12306	c.11335C>T	c.(11335-11337)Ctc>Ttc	p.L3779F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3779	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACACTGGAGATCCATAGGG	0.403000										TSP Lung(27;0.18)			20	29					0	0	0.00188189	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128578	68128578	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:68128578C>T	ENST00000585558.1	+	4	843	c.455C>T	c.(454-456)tCt>tTt	p.S152F	KCNJ16_ENST00000392670.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000589377.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S156F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S117F|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S117F			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	117					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AACGTCCATTCTTTCACAGGG	0.453000													6	30					0	0	0.00116845	0	0
P2RY8	286530	broad.mit.edu	37	X	1584969	1584969	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1584969G>A	ENST00000381297.4	-	2	693	c.483C>T	c.(481-483)acC>acT	p.T161T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	161						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTGAGATCGGTGCGCGCCA	0.692000			T	CRLF2	"""B-ALL, Downs associated ALL"""								5	29					0	0	0.00198382	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905757	132905757	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:132905757C>T	ENST00000409867.1	-	6	973	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGTGTTCTTTCCGCCAAGGGT	0.433000													13	29					0	0	0.000422831	0	0
COL3A1	1281	broad.mit.edu	37	2	189870087	189870087	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189870087G>A	ENST00000304636.3	+	41	3113	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	981	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G981G(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAGTGGGAAACCAGGAG	0.428000													44	103					0	0	0.000781405	0	0
TNR	7143	broad.mit.edu	37	1	175365882	175365882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175365882C>T	ENST00000367674.1	-	5	1746	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	TNR_ENST00000263525.2_Nonsense_Mutation_p.W346*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	346	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGCCCGTCCCATTCCAGCT	0.607000													28	73					0	0	0.0024448	0	0
GYPB	2994	broad.mit.edu	37	4	144918707	144918707	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:144918707G>A	ENST00000283126.7	-	4	311	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	GYPB_ENST00000513128.1_Missense_Mutation_p.R53C|GYPB_ENST00000502664.1_Missense_Mutation_p.R86C|GYPB_ENST00000510196.2_5'UTR|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Silent_p.F60F					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ATCAGTCGGCGAATACTGTAA	0.368000													10	46					0	0	0.000978159	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780771	106780771	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106780771C>T	ENST00000390612.2	-	0	164																											CCGAAGGCTTCACCAGTCCTG	0.627000													9	41					0	0	0.000673444	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137515	32137515	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:32137515C>T	ENST00000312561.4	+	4	4040	c.3626C>T	c.(3625-3627)cCt>cTt	p.P1209L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGTGTTCTCCTTTGGATACC	0.418000													20	22					0	0	0.00047179	0	0
ZNF341	84905	broad.mit.edu	37	20	32328773	32328773	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:32328773C>T	ENST00000375200.1	+	2	462	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S	ZNF341_ENST00000342427.2_Missense_Mutation_p.P33S			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGTCCCTGATCCGACAGGCCA	0.547000													21	79					0	0	0.00047179	0	0
ROBO2	6092	broad.mit.edu	37	3	77671460	77671460	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:77671460G>A	ENST00000461745.1	+	23	4537	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E1229K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1213K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1213					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCTGATTTGGAAACGGATGT	0.478000													16	49					0	0	0.000566183	0	0
GSTM5	2949	broad.mit.edu	37	1	110256073	110256073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:110256073C>T	ENST00000369813.1	+	2	927	c.22C>T	c.(22-24)Caa>Taa	p.Q8*	GSTM5_ENST00000369812.5_Nonsense_Mutation_p.Q68*|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTGGTGGCCCAACTGAGCTT	0.567000													34	39					0	0	0.000491102	0	0
CDH9	1007	broad.mit.edu	37	5	26885949	26885949	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:26885949C>T	ENST00000231021.4	-	11	1828	c.1656G>A	c.(1654-1656)cgG>cgA	p.R552R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	552	Cadherin 5.				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						AGCCATCTTTCCGAGTCATGA	0.343000													9	50					0	0	0.000673444	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016861	58016861	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:58016861C>T	ENST00000379218.2	+	7	1305	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SLC26A10_ENST00000320442.4_Missense_Mutation_p.P332S			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	332						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCTTGCTTTCCCAACTCGGC	0.547000													116	179					0	0	0.000781405	0	0
COL4A3	1285	broad.mit.edu	37	2	228118846	228118846	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228118846G>A	ENST00000396578.3	+	14	946	c.784G>A	c.(784-786)Gga>Aga	p.G262R	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	262	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGGGAAAAGGGAGACAAGGG	0.428000													31	92					0	0	0.00128727	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573174	140573174	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140573174C>T	ENST00000239446.4	+	1	1233	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		350					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGATCGTATCATCATTTTCC	0.433000													28	120					0	0	0.00209593	0	0
HCAR1	27198	broad.mit.edu	37	12	123214229	123214229	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123214229G>A	ENST00000432564.1	-	1	900	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	HCAR1_ENST00000436083.2_Missense_Mutation_p.R220W|HCAR1_ENST00000356987.2_Missense_Mutation_p.R220W	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	220					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						ATGATGAACCGGGTCGCCTTC	0.557000													17	60					0	0	0.000720815	0	0
FAM188B	84182	broad.mit.edu	37	7	30825511	30825511	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:30825511C>T	ENST00000265299.6	+	4	643	c.566C>T	c.(565-567)cCt>cTt	p.P189L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	189										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCGGAGCCTTCCTTGGAT	0.552000													25	58					0	0	0.001512	0	0
ITGB6	3694	broad.mit.edu	37	2	160958284	160958284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160958284C>T	ENST00000283249.2	-	15	2567	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K	ITGB6_ENST00000409967.2_Missense_Mutation_p.R670K|ITGB6_ENST00000428609.2_Missense_Mutation_p.R735K|ITGB6_ENST00000409872.1_Missense_Mutation_p.R777K			P18564	ITB6_HUMAN	integrin, beta 6	777					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGTTTTTCCCTGTGTTTATA	0.308000													12	49					0	0	0.00185496	0	0
DMBT1	1755	broad.mit.edu	37	10	124392396	124392396	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124392396C>T	ENST00000338354.3	+	48	6106	c.6000C>T	c.(5998-6000)acC>acT	p.T2000T	DMBT1_ENST00000330163.4_Silent_p.T1372T|DMBT1_ENST00000368955.3_Silent_p.T1990T|DMBT1_ENST00000368909.3_Silent_p.T2000T|DMBT1_ENST00000344338.3_Silent_p.T1990T|DMBT1_ENST00000359586.6_Silent_p.T720T|DMBT1_ENST00000368956.2_Silent_p.T1372T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2000					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAACATCACCCGTCCAAACA	0.507000													4	16					0	0	0.000602214	0	0
SLC4A4	8671	broad.mit.edu	37	4	72317009	72317009	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:72317009G>A	ENST00000340595.3	+	8	1377	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	SLC4A4_ENST00000512686.1_Missense_Mutation_p.R394Q|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R438Q|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R438Q|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R438Q	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	438						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAATTGCAGCGAACTGGACGG	0.428000													12	28					0	0	0.00185496	0	0
DACH1	1602	broad.mit.edu	37	13	72053377	72053377	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:72053377C>T	ENST00000305425.4	-	8	2222	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	DACH1_ENST00000359684.2_Silent_p.L652L|DACH1_ENST00000354591.4_Silent_p.L398L|DACH1_ENST00000313174.7_Silent_p.L452L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	650					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AATCCATCTTCAGCTCAGTTT	0.388000													22	56					0	0	0.00152264	0	0
SNAPC4	6621	broad.mit.edu	37	9	139276502	139276502	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:139276502G>A	ENST00000298532.2	-	17	2459	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	697					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGTGGGCAGGGGTGGCTGCC	0.682000													7	8					0	0	0.000274275	0	0
RYR1	6261	broad.mit.edu	37	19	38995653	38995653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38995653C>T	ENST00000355481.4	+	52	8373	c.8242C>T	c.(8242-8244)Ccg>Tcg	p.P2748S	RYR1_ENST00000360985.3_Missense_Mutation_p.P2748S|RYR1_ENST00000359596.3_Missense_Mutation_p.P2748S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2748	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTGATCATCCCGGAGAAGCT	0.567000													21	39					0	0	0.000375601	0	0
ROBO4	54538	broad.mit.edu	37	11	124767049	124767049	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:124767049G>A	ENST00000306534.3	-	2	664	c.179C>T	c.(178-180)cCt>cTt	p.P60L	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	60	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGTGGGAGGTGGCTGGCC	0.672000													6	8					0	0	0.00198382	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202762	69202762	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:69202762G>A	ENST00000344157.4	-	4	1201	c.866C>T	c.(865-867)tCa>tTa	p.S289L	YTHDC1_ENST00000579690.1_Missense_Mutation_p.S289L|YTHDC1_ENST00000355665.3_Missense_Mutation_p.S289L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	289										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCTGTGCCTGAACCAGATCT	0.373000													10	63					0	0	0.00185496	0	0
GEM	2669	broad.mit.edu	37	8	95262708	95262708	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95262708G>A	ENST00000297596.2	-	5	985	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	GEM_ENST00000396194.2_Missense_Mutation_p.L241F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	241					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCGCCGAAGGCGCACCTGT	0.577000													4	38					0	0	0.000602214	0	0
NAT2	10	broad.mit.edu	37	8	18257782	18257782	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:18257782G>A	ENST00000286479.3	+	2	376	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	90					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ACAATGTTAGGAGGGTATTTT	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	36					0	0	0.000422831	0	0
NDN	4692	broad.mit.edu	37	15	23932257	23932257	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:23932257C>T	ENST00000331837.4	-	1	193	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGCCAGGGTCGCGGACGGAG	0.701000									Prader-Willi syndrome				4	11					0	0	0.00024832	0	0
MYH7	4625	broad.mit.edu	37	14	23898167	23898167	+	Silent	SNP	G	G	A	rs140218676	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23898167G>A	ENST00000355349.3	-	14	1566	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	468	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AACTCACATCGAAGATCTCGA	0.542000													5	29					0	0	0.00198382	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474655	102474655	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102474655C>T	ENST00000360184.4	+	29	6122	c.5958C>T	c.(5956-5958)tcC>tcT	p.S1986S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1986	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGAACATTCCAACCCCAACT	0.488000													9	33					0	0	0.000673444	0	0
P2RY8	286530	broad.mit.edu	37	X	1585120	1585120	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1585120A>G	ENST00000381297.4	-	2	542	c.332T>C	c.(331-333)aTc>aCc	p.I111T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	111						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATGGTGAGGATGCTGGAATA	0.592000			T	CRLF2	"""B-ALL, Downs associated ALL"""								7	25					0	0	0.000157383	0	0
EXPH5	23086	broad.mit.edu	37	11	108385124	108385124	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108385124G>A	ENST00000265843.4	-	6	1220	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	EXPH5_ENST00000525344.1_Silent_p.S363S|EXPH5_ENST00000443411.1_Silent_p.S182S|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.S294S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	370					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCATATGATGGATGATAAAG	0.468000													44	103					0	0	0.000589545	0	0
CAMKV	79012	broad.mit.edu	37	3	49898881	49898881	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49898881C>T	ENST00000466940.1	-	5	468	c.302_splice	c.e5-1	p.L101_splice	CAMKV_ENST00000463537.1_Silent_p.R144R|CAMKV_ENST00000296471.7_Silent_p.R144R|CAMKV_ENST00000477224.1_Silent_p.R144R|CAMKV_ENST00000488336.1_Silent_p.R144R|CAMKV_ENST00000467248.1_Silent_p.R69R			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	101	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTTGAGATTCCTGTGCACGA	0.607000													23	47					0	0	0.000878237	0	0
STX17	55014	broad.mit.edu	37	9	102722257	102722257	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:102722257C>T	ENST00000259400.6	+	5	610	c.474C>T	c.(472-474)gcC>gcT	p.A158A	STX17_ENST00000525640.1_Silent_p.A158A|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.A158A	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	158					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGATATATGCCTTACCTGAAA	0.368000													24	52					0	0	0.001512	0	0
NEB	4703	broad.mit.edu	37	2	152410526	152410526	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152410526G>A	ENST00000397345.3	-	126	19644	c.19442C>T	c.(19441-19443)tCa>tTa	p.S6481L	NEB_ENST00000172853.10_Missense_Mutation_p.S4780L|NEB_ENST00000409198.1_Missense_Mutation_p.S4780L|NEB_ENST00000603639.1_Missense_Mutation_p.S6481L|NEB_ENST00000427231.2_Missense_Mutation_p.S6481L|NEB_ENST00000604864.1_Missense_Mutation_p.S6481L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6475	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCATAAACTGATCTGTACAG	0.423000													27	117					0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22155201	22155201	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22155201G>A	ENST00000397126.4	-	4	2783	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGATAACTAAGG	0.363000													9	27					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068489	126068489	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:126068489C>T	ENST00000299308.3	+	5	1379	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	457						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTCTGTGGTCGATGTGTCTG	0.483000													41	84					0	0	0.000509022	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61665766	61665766	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:61665766A>T	ENST00000394836.2	-	10	1290	c.1133T>A	c.(1132-1134)tTc>tAc	p.F378Y	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.F352Y	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	378							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CTCCTGGGGGAAGAAGCCGAG	0.632000											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	145					0	0	0.000781405	0	0
SPINK5	11005	broad.mit.edu	37	5	147481466	147481466	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147481466C>T	ENST00000359874.3	+	15	1498	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SPINK5_ENST00000256084.7_Silent_p.A475A|SPINK5_ENST00000398454.1_Silent_p.A475A	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	475	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTGAGGCCTTCTTGTGAG	0.473000													5	23					0	0	0.000602214	0	0
MCCC2	64087	broad.mit.edu	37	5	70922545	70922545	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:70922545A>T	ENST00000340941.6	+	7	832	c.703A>T	c.(703-705)Aag>Tag	p.K235*	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000509358.2_Nonsense_Mutation_p.K235*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	235	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CATTGTACGCAAGCAGGGTAC	0.473000													8	34					0	0	0.000157383	0	0
TDRD5	163589	broad.mit.edu	37	1	179620193	179620193	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179620193C>T	ENST00000444136.1	+	12	2242	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	TDRD5_ENST00000367614.1_Silent_p.I664I|TDRD5_ENST00000294848.8_Silent_p.I664I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	664					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGAAAATATCTCTTCTAAGG	0.333000													7	90					0	0	0.000274275	0	0
TSTD2	158427	broad.mit.edu	37	9	100380096	100380096	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:100380096G>A	ENST00000341170.4	-	4	928	c.546C>T	c.(544-546)ccC>ccT	p.P182P	TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	182								p.P182P(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGATCCATTGGGGATCCTCCA	0.498000													20	30					0	0	0.00152264	0	0
MGEA5	10724	broad.mit.edu	37	10	103557835	103557835	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:103557835G>A	ENST00000361464.3	-	10	2281	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	MGEA5_ENST00000357797.5_Missense_Mutation_p.S576F|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.S629F|MGEA5_ENST00000439817.1_Missense_Mutation_p.S576F	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	629	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGCACAATTGGAGAGCCGAGT	0.403000													12	74					0	0	0.00136819	0	0
ZNF248	57209	broad.mit.edu	37	10	38121341	38121341	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:38121341G>A	ENST00000395867.3	-	6	1492	c.942C>T	c.(940-942)atC>atT	p.I314I	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I314I	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCCTGATGGATAATGAAAG	0.363000													19	45					0	0	0.00152264	0	0
GRM2	2912	broad.mit.edu	37	3	51749225	51749225	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:51749225C>T	ENST00000395052.3	+	4	1670	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	479					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GAAGGCTTGACTCTGGACACC	0.607000													7	35					0	0	0.00198382	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713226	70713226	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:70713226C>T	ENST00000530196.1	-	0	1292					NR_003951.1																						AGGTGGTCTTCATAAAATCAG	0.413000													10	65					0	0	0.000442599	0	0
NPAP1	23742	broad.mit.edu	37	15	24922957	24922957	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24922957A>G	ENST00000329468.2	+	1	2417	c.1943A>G	c.(1942-1944)aAa>aGa	p.K648R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCAGCCCAAATTTGAGGCT	0.493000													16	89					0	0	0.00074312	0	0
TTC16	158248	broad.mit.edu	37	9	130489664	130489664	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:130489664C>T	ENST00000373289.3	+	12	1764	c.1684C>T	c.(1684-1686)Ccg>Tcg	p.P562S	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	562							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCCTGAGATTCCGCAGGTAAA	0.587000													12	15					0	0	0.000308642	0	0
NUP210	23225	broad.mit.edu	37	3	13376957	13376957	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:13376957G>A	ENST00000254508.5	-	28	3922	c.3840C>T	c.(3838-3840)gtC>gtT	p.V1280V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1280					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCCTACCTGGACTTGGATCT	0.622000													26	80					0	0	0.000491102	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532416	40532416	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:40532416C>T	ENST00000297737.6	-	5	530	c.384G>A	c.(382-384)atG>atA	p.M128I	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	128						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GAGCAGTGTCCATCCGTGGGG	0.532000													26	73					0	0	0.00127121	0	0
HLCS	3141	broad.mit.edu	37	21	38132112	38132112	+	Missense_Mutation	SNP	C	C	T	rs119103228		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:38132112C>T	ENST00000399120.1	-	10	2941	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	HLCS_ENST00000336648.3_Missense_Mutation_p.D571N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	571			D -> N (in HLCS deficiency; almost no activity).		cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TAATAAATATCGTTGGGCCAC	0.418000													23	111					0	0	0.000720815	0	0
CSF3R	1441	broad.mit.edu	37	1	36932837	36932837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36932837C>T	ENST00000338937.5	-	13	1939	c.1940G>A	c.(1939-1941)tGg>tAg	p.W647*	CSF3R_ENST00000373103.1_Missense_Mutation_p.M678I|CSF3R_ENST00000331941.5_Missense_Mutation_p.M678I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.M678I|CSF3R_ENST00000418048.2_Missense_Mutation_p.M678I|CSF3R_ENST00000373104.1_Missense_Mutation_p.M678I|CSF3R_ENST00000440588.2_Missense_Mutation_p.M678I|CSF3R_ENST00000373106.1_Missense_Mutation_p.M678I			Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	0					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCACCTCCTCCATGATTGTGG	0.602000													68	96					0	0	0.000781405	0	0
C3	718	broad.mit.edu	37	19	6713445	6713445	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6713445G>A	ENST00000245907.6	-	8	941	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	283					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTCAGGCAGGGAAATCCTCT	0.597000													18	52					0	0	0.00074312	0	0
TNXB	7148	broad.mit.edu	37	6	32041686	32041686	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32041686C>T	ENST00000375244.3	-	12	4620	c.4419G>A	c.(4417-4419)ctG>ctA	p.L1473L	TNXB_ENST00000375247.2_Silent_p.L1473L			P22105	TENX_HUMAN	tenascin XB	1560	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCGTGGCTCCAGCGGGGACT	0.562000													138	227					0	0	0.000781405	0	0
CALCR	799	broad.mit.edu	37	7	93065362	93065362	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:93065362G>A	ENST00000359558.2	-	14	1452	c.1153C>T	c.(1153-1155)Ctg>Ttg	p.L385L	CALCR_ENST00000360249.4_Silent_p.L367L|CALCR_ENST00000421592.1_Silent_p.L367L|CALCR_ENST00000426151.1_Silent_p.L351L|CALCR_ENST00000394441.1_Silent_p.L351L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	367					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATTCCCAGCAGGGGCACAAGG	0.498000													11	44					0	0	0.000673444	0	0
BAI2	576	broad.mit.edu	37	1	32207011	32207011	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32207011C>T	ENST00000373658.3	-	11	2098	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	BAI2_ENST00000440175.2_Missense_Mutation_p.R228H|BAI2_ENST00000398542.1_Missense_Mutation_p.R519H|BAI2_ENST00000398547.1_Missense_Mutation_p.R519H|BAI2_ENST00000257070.4_Missense_Mutation_p.R586H|BAI2_ENST00000398556.3_Missense_Mutation_p.R534H|BAI2_ENST00000373655.2_Missense_Mutation_p.R586H|BAI2_ENST00000527361.1_Missense_Mutation_p.R586H|BAI2_ENST00000398538.1_Missense_Mutation_p.R574H	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	586					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGAGATGCAGCGAGCAAAGCT	0.622000													10	19					0	0	0.000673444	0	0
ATP1A4	480	broad.mit.edu	37	1	160143373	160143373	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160143373G>A	ENST00000368081.4	+	13	2328	c.1857G>A	c.(1855-1857)gtG>gtA	p.V619V	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	619					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAACCCAGGTGATCATGGTAA	0.517000													30	74					0	0	0.000491102	0	0
SETD2	29072	broad.mit.edu	37	3	47125334	47125334	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:47125334G>A	ENST00000409792.3	-	12	5978	c.5936C>T	c.(5935-5937)cCa>cTa	p.P1979L	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTTGGGATGGTGTTTCTTC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma								31	102					0	0	0.001512	0	0
NCKAP1	10787	broad.mit.edu	37	2	183795517	183795517	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:183795517C>T	ENST00000360982.2	-	28	3636		c.e28-1		NCKAP1_ENST00000361354.3_Splice_Site|NCKAP1_ENST00000478449.1_Splice_Site	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATTGCAACCTGATAAAAAC	0.363000													7	34					0	0	0.000157383	0	0
SSTR4	6754	broad.mit.edu	37	20	23017048	23017048	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:23017048C>T	ENST00000255008.3	+	1	992	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	310					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCCCATTCTCTATGGCTT	0.597000													51	154					0	0	0.000781405	0	0
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448000													17	62					0	0	0.000375601	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66764025	66764025	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:66764025G>A	ENST00000258198.2	-	8	1237	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P267L|DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	344					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTTTCTCACGGGAGGTTTCAC	0.473000													17	26					0	0	0.000958276	0	0
IKBIP	121457	broad.mit.edu	37	12	99020400	99020400	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:99020400G>A	ENST00000299157.4	-	3	815	c.442C>T	c.(442-444)Ctt>Ttt	p.L148F	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	150					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCTCATTAAGGCTTTGCATC	0.358000													38	103					0	0	0.00148497	0	0
AFF4	27125	broad.mit.edu	37	5	132232718	132232718	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:132232718G>A	ENST00000265343.5	-	11	1983	c.1604C>T	c.(1603-1605)aCc>aTc	p.T535I	AFF4_ENST00000378595.3_Missense_Mutation_p.T535I	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	535					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTTGGATGGTTTTGGAGTC	0.493000													36	83					0	0	0.00128727	0	0
SPINK5	11005	broad.mit.edu	37	5	147499601	147499601	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147499601G>A	ENST00000359874.3	+	25	2416	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SPINK5_ENST00000256084.7_Missense_Mutation_p.M781I|SPINK5_ENST00000398454.1_Missense_Mutation_p.M781I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	781	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCAAATGAAAAATGGAA	0.383000													9	23					0	0	0.000442599	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955917	156955917	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156955917G>A	ENST00000368194.3	-	2	1120	c.81C>T	c.(79-81)tcC>tcT	p.S27S	ARHGEF11_ENST00000361409.2_Silent_p.S27S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	27					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGGAAGGGGACTTGCGCT	0.537000													28	101					0	0	0.00209593	0	0
ATP1A1	476	broad.mit.edu	37	1	116935540	116935540	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:116935540C>T	ENST00000537345.1	+	11	1760	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	ATP1A1_ENST00000369496.4_Missense_Mutation_p.S435F|ATP1A1_ENST00000295598.5_Missense_Mutation_p.S466F	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	466					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGCTGTGGTTCCGTGAAGGAG	0.493000													30	71					0	0	0.00058488	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475253	42475253	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:42475253G>A	ENST00000434000.1	-	9	4240	c.3958C>T	c.(3958-3960)Cat>Tat	p.H1320Y	GPATCH8_ENST00000591680.1_Missense_Mutation_p.H1398Y			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1398						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTGGGGATGGGGGTGAGGG	0.582000													13	23					0	0	0.00185496	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976111	120976111	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:120976111G>A	ENST00000273666.6	+	17	2034	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R588K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R588K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	588					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTTCTTCAAGGAGTCTTTCT	0.413000													19	102					0	0	0.00074312	0	0
INF2	64423	broad.mit.edu	37	14	105174857	105174857	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105174857C>T	ENST00000392634.4	+	9	1932	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	INF2_ENST00000330634.7_Missense_Mutation_p.S607F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	607	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CGACTATTCTCCTTCCCTGCA	0.682000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	29					0	0	0.00136819	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776915	25776915	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:25776915C>T	ENST00000377905.4	+	9	1199	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SLC17A4_ENST00000439485.2_Silent_p.I130I|SLC17A4_ENST00000397076.2_Silent_p.I130I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	360					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGAAAAATCCTCAGACTCA	0.498000													12	28					0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196729347	196729347	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196729347C>T	ENST00000312428.6	-	41	7132	c.7032G>A	c.(7030-7032)ggG>ggA	p.G2344G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2344	AAA 4 (By similarity).				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						GCCTTCCACTCCCTCCAACCC	0.478000													10	29					0	0	0.000442599	0	0
KIAA1109	84162	broad.mit.edu	37	4	123141522	123141522	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:123141522C>T	ENST00000264501.4	+	22	2883	c.2510C>T	c.(2509-2511)gCt>gTt	p.A837V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A837V|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A837V			Q2LD37	K1109_HUMAN	KIAA1109	837					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCCCTACAGCTTTCTTGGAA	0.383000													8	47					0	0	0.000442599	0	0
PTH2R	5746	broad.mit.edu	37	2	209302306	209302306	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:209302306A>T	ENST00000272847.2	+	3	436	c.223A>T	c.(223-225)Aga>Tga	p.R75*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	75						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTTGGCCCAGAGGAACAGT	0.328000													13	52					0	0	0.000308642	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651372	1651372	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:1651372C>T	ENST00000399676.2	+	1	340	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	101	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGTCTCCTGTGGGGTG	0.677000													29	127					0	0	0.00178596	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004729	52004729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52004729C>T	ENST00000291707.3	-	1	314	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	87	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGAGTCTCCTCCTGCACTGCT	0.572000													30	70					0	0	0.00058488	0	0
ASTN1	460	broad.mit.edu	37	1	177133714	177133714	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:177133714C>T	ENST00000367654.2	-	1	112	c.99G>A	c.(97-99)ctG>ctA	p.L33L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L33L|ASTN1_ENST00000361833.2_Silent_p.L33L|ASTN1_ENST00000367657.3_Silent_p.L33L			O14525	ASTN1_HUMAN	astrotactin 1	33					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTTGCACTCCAGCTCCTTGG	0.682000													16	30					0	0	0.000958276	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305711	110305711	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110305711G>A	ENST00000239690.4	-	4	876	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	NUDCD1_ENST00000427660.2_Missense_Mutation_p.H139Y	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	168										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GAGATACTGTGAATTATAATA	0.323000													7	65					0	0	0.000157383	0	0
ZNF208	7757	broad.mit.edu	37	19	22154722	22154722	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22154722G>A	ENST00000397126.4	-	4	3262	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGCCAGCTGAAGGCTTTGT	0.443000													24	54					0	0	0.000878237	0	0
LYPD2	137797	broad.mit.edu	37	8	143832508	143832508	+	Missense_Mutation	SNP	C	C	T	rs145933616	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143832508C>T	ENST00000359228.3	-	2	221	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	47	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACATGGTTTCGTTGGTGGTG	0.652000													29	108					0	0	0.000953801	0	0
UGGT1	56886	broad.mit.edu	37	2	128947294	128947294	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128947294C>T	ENST00000375990.3	+	41	4977	c.4574C>T	c.(4573-4575)cCt>cTt	p.P1525L	UGGT1_ENST00000465836.1_3'UTR|UGGT1_ENST00000259253.6_Missense_Mutation_p.P1549L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1549	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCTTAGGTCCTCAGAAACGT	0.358000													9	27					0	0	0.000978159	0	0
KRT39	390792	broad.mit.edu	37	17	39114917	39114917	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39114917C>T	ENST00000355612.2	-	7	1447	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	471	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AATGACCTTCCCATCCTTAAT	0.478000													27	52					0	0	0.000720815	0	0
PSD4	23550	broad.mit.edu	37	2	113943511	113943511	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113943511C>T	ENST00000245796.6	+	5	1502	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	PSD4_ENST00000441564.2_Intron	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	436					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCCTGCCCCTGGAGGAGC	0.647000													4	15					0	0	0.000602214	0	0
TRBV27	28560	broad.mit.edu	37	7	142423396	142423396	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142423396C>T	ENST00000506718.1	+	0	404				TRBV27_ENST00000390399.3_RNA																							CTTTACAGGCCCCCTGGAAGC	0.483000													5	38					0	0	0.000157383	0	0
MIR379	494328	broad.mit.edu	37	14	101488435	101488435	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:101488435G>A	ENST00000362218.3	+	0	70					NR_029871.1																						TAGGCGTTATGATTTCTGACC	0.522000													23	46					0	0	0.00047179	0	0
CNDP2	55748	broad.mit.edu	37	18	72183516	72183516	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:72183516C>T	ENST00000324262.4	+	9	1273	c.957C>T	c.(955-957)atC>atT	p.I319I	CNDP2_ENST00000579847.1_Silent_p.I319I|CNDP2_ENST00000324301.8_Silent_p.I235I	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	319						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCCATGGCATCGAAGGCGCCT	0.572000													34	104					0	0	0.00170553	0	0
SCN5A	6331	broad.mit.edu	37	3	38655273	38655273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38655273G>A	ENST00000443581.1	-	6	857	c.664C>T	c.(664-666)Cga>Tga	p.R222*	SCN5A_ENST00000423572.2_Nonsense_Mutation_p.R222*|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.R222*|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.R222*|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000414099.2_Intron	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	222					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGAGGACTCGGAAGGTGCGT	0.483000													4	19					0	0	0.00116845	0	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	T	rs145734588	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164725726C>T	ENST00000264382.3	-	36	4302	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.264000										HNSCC(35;0.089)			24	154					0	0	0.00178596	0	0
USP11	8237	broad.mit.edu	37	X	47106753	47106753	+	Missense_Mutation	SNP	C	C	T	rs140077263	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:47106753C>T	ENST00000377107.2	+	19	2825	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L	USP11_ENST00000218348.3_Missense_Mutation_p.P867L			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	867					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P867L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAGTCGAATCCGGAGCTGTAC	0.567000													17	23					0	0	0.000958276	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451195	44451195	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44451195C>T	ENST00000356836.6	+	6	1660	c.870C>T	c.(868-870)tcC>tcT	p.S290S	B4GALT2_ENST00000434555.2_Silent_p.S224S|B4GALT2_ENST00000309519.7_Silent_p.S319S|B4GALT2_ENST00000372324.1_Silent_p.S290S|B4GALT2_ENST00000481924.1_3'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	290					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TCAGGATCTCCCTGACTGGGA	0.607000													29	88					0	0	0.00058488	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030893	58030893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:58030893C>T	ENST00000556826.1	-	8	1654	c.1418G>A	c.(1417-1419)aGa>aAa	p.R473K	SLC35F4_ENST00000339762.6_Missense_Mutation_p.R509K|SLC35F4_ENST00000554729.1_Missense_Mutation_p.R350K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTCTGCCTCTGCCCCGCAG	0.453000													4	18					0	0	0.000602214	0	0
PTPN14	5784	broad.mit.edu	37	1	214537942	214537942	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:214537942G>A	ENST00000366956.5	-	18	3542	c.3348C>T	c.(3346-3348)ccC>ccT	p.P1116P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1116	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGACCACGATGGGCGGGTGCC	0.542000													16	36					0	0	0.000958276	0	0
AGTR2	186	broad.mit.edu	37	X	115303666	115303666	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:115303666G>A	ENST00000371906.4	+	3	323	c.133G>A	c.(133-135)Gat>Aat	p.D45N		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	45					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAAGCATTTAGATGCAATTCC	0.373000													8	13					0	0	0.000673444	0	0
XIST	7503	broad.mit.edu	37	X	73063611	73063611	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73063611C>T	ENST00000429829.1	-	0	8977					NR_001564.2																						TAGGTAGGATCCTTATCTAGT	0.403000													5	22					0	0	0.000602214	0	0
NETO1	81832	broad.mit.edu	37	18	70526092	70526092	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:70526092C>T	ENST00000327305.6	-	4	1095	c.438G>A	c.(436-438)atG>atA	p.M146I	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.M145I|NETO1_ENST00000299430.2_Missense_Mutation_p.M145I|NETO1_ENST00000583169.1_Missense_Mutation_p.M146I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	146	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGAAAATCCCATAGATTCCA	0.323000													13	41					0	0	0.000219431	0	0
APOL5	80831	broad.mit.edu	37	22	36122288	36122288	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36122288A>T	ENST00000249044.2	+	3	173	c.173A>T	c.(172-174)aAa>aTa	p.K58I		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	58					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAGAGTTGGAAAATTAACAAT	0.458000													30	85					0	0	0.0024448	0	0
DCTN1	1639	broad.mit.edu	37	2	74598249	74598249	+	Silent	SNP	G	G	A	rs13017086		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74598249G>A	ENST00000361874.3	-	9	1017	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	DCTN1_ENST00000409438.1_Silent_p.L100L|DCTN1_ENST00000394003.3_Silent_p.L227L|DCTN1_ENST00000409868.1_Silent_p.L217L|DCTN1_ENST00000409240.1_Silent_p.L197L|DCTN1_ENST00000409567.3_Silent_p.L214L|DCTN1_ENST00000407639.2_Silent_p.L100L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	234					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.L234M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCAGTCTCAGGGTCTCTAGT	0.547000													74	322					0	0	0.000781405	0	0
PPM1L	151742	broad.mit.edu	37	3	160783332	160783332	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:160783332G>A	ENST00000498165.1	+	3	817	c.716G>A	c.(715-717)aGa>aAa	p.R239K	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.R60K|PPM1L_ENST00000295839.9_Missense_Mutation_p.R112K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	239	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R239T(1)|p.R60T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTGAAGGAAAGAAAGAGGATA	0.507000													5	28					0	0	0.000602214	0	0
ACSL1	2180	broad.mit.edu	37	4	185724548	185724548	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:185724548T>G	ENST00000515030.1	-	2	446	c.121A>C	c.(121-123)Acc>Ccc	p.T41P	ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504342.1_Missense_Mutation_p.T41P|ACSL1_ENST00000504900.1_Missense_Mutation_p.T41P|ACSL1_ENST00000281455.2_Missense_Mutation_p.T41P|ACSL1_ENST00000507295.1_Missense_Mutation_p.T41P|ACSL1_ENST00000513317.1_Missense_Mutation_p.T41P			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	41					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACCAGAAGGTGGTGAGTGCT	0.592000													5	19					0	0	0.00116845	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495667	6495667	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6495667G>C	ENST00000264071.2	-	4	1214	c.843C>G	c.(841-843)taC>taG	p.Y281*	TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.Y281*			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	281					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TCAGGGCCCGGTACTGCTGGC	0.677000													21	84					0	0	0.00188189	0	0
NLRP14	338323	broad.mit.edu	37	11	7070992	7070992	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:7070992G>A	ENST00000299481.4	+	6	2560	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	738					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACCTAAAAGGGAGTGATATAG	0.383000													46	92					0	0	0.000680045	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21798546	21798546	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21798546G>A	ENST00000206660.6	+	19	3238	c.3238_splice	c.e19+1	p.D1080_splice	RPGRIP1_ENST00000556336.1_Splice_Site_p.D737_splice|RPGRIP1_ENST00000382933.4_Splice_Site_p.D406_splice|RPGRIP1_ENST00000557771.1_Splice_Site_p.D1042_splice|RPGRIP1_ENST00000400017.2_Splice_Site_p.D1080_splice|RPGRIP1_ENST00000307974.4_Splice_Site_p.D439_splice			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1080	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCCTGTAAATGGTATTGTCTT	0.433000													7	26					0	0	0.00198382	0	0
PPIH	10465	broad.mit.edu	37	1	43124996	43124996	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43124996G>A	ENST00000372549.1	+	2	287	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000304979.3_Intron			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	0	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GGGTATCGGTGAACCACCTGC	0.507000													25	53					0	0	0.00047179	0	0
CFTR	1080	broad.mit.edu	37	7	117307070	117307070	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:117307070C>T	ENST00000003084.6	+	27	4483	c.4351C>T	c.(4351-4353)Ccc>Tcc	p.P1451S	CFTR_ENST00000454343.1_Missense_Mutation_p.P1390S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1451					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAGCTCTTTCCCCACCGGAA	0.532000									Cystic Fibrosis				6	14					0	0	0.00198382	0	0
CDH23	64072	broad.mit.edu	37	10	73553238	73553238	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:73553238G>A	ENST00000224721.6	+	47	6573	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2185	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAGCGTGCTGGAGTCGGCTGA	0.557000													12	52					0	0	0.000219431	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175252	207175252	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207175252G>A	ENST00000374423.3	+	5	6386	c.6000G>A	c.(5998-6000)ttG>ttA	p.L2000L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2000							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTAAAGTTTTGAAGCCTATGC	0.373000													12	27					0	0	0.00136819	0	0
SMCHD1	23347	broad.mit.edu	37	18	2763772	2763772	+	Silent	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2763772T>A	ENST00000320876.6	+	37	5042	c.4704T>A	c.(4702-4704)ggT>ggA	p.G1568G	SMCHD1_ENST00000261598.8_Silent_p.G1568G|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1568					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCGTGAATGGTTCGGCTGAAA	0.333000													35	70					0	0	0.00222228	0	0
KCNT2	343450	broad.mit.edu	37	1	196309636	196309636	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196309636G>C	ENST00000367433.5	-	16	1719	c.1618C>G	c.(1618-1620)Cct>Gct	p.P540A	KCNT2_ENST00000367431.4_Missense_Mutation_p.P490A|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.P151A|KCNT2_ENST00000294725.8_Missense_Mutation_p.P540A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	540	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTATCGAGGACCTGGATTC	0.318000													4	55					0	0	0.00116845	0	0
DNAH7	56171	broad.mit.edu	37	2	196729348	196729348	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196729348C>T	ENST00000312428.6	-	41	7131	c.7031G>A	c.(7030-7032)gGg>gAg	p.G2344E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2344	AAA 4 (By similarity).				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						CCTTCCACTCCCTCCAACCCC	0.473000													10	30					0	0	0.000442599	0	0
DOCK9	23348	broad.mit.edu	37	13	99537329	99537329	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:99537329G>A	ENST00000376460.1	-	21	2358	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S	DOCK9_ENST00000448493.2_Missense_Mutation_p.P772S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P760S|DOCK9_ENST00000339416.2_Missense_Mutation_p.P761S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	761	DHR-1.				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)					TTCAGGAGGGGAAGCCAGGAG	0.502000													4	13					0	0	0.00116845	0	0
CAPN6	827	broad.mit.edu	37	X	110489950	110489950	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:110489950C>T	ENST00000324068.1	-	13	1948	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	CAPN6_ENST00000541758.1_Missense_Mutation_p.G339E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	594	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGTAACCTGCCCCAAGAACTG	0.527000													10	12					0	0	0.000673444	0	0
CCDC124	115098	broad.mit.edu	37	19	18054467	18054467	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18054467C>T	ENST00000597436.1	+	5	722	c.615C>T	c.(613-615)ctC>ctT	p.L205L	CCDC124_ENST00000445755.2_Silent_p.L205L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	205							DNA binding			central_nervous_system(1)|kidney(2)	3						AGGAGTGGCTCCGCTCTCCTG	0.612000													18	40					0	0	0.00074312	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153538	133153538	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:133153538G>A	ENST00000388996.4	-	10	1723	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P315S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P435S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	435					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTACCACGAGGATTAGAAAGG	0.413000													9	43					0	0	0.00136819	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360854	105360854	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:105360854G>A	ENST00000297581.2	+	2	123	c.74G>A	c.(73-75)gGa>gAa	p.G25E	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G25E|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	25					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGAAGCCCCGGATGGATGGAC	0.498000													9	43					0	0	0.000274275	0	0
MGAM	8972	broad.mit.edu	37	7	141802445	141802445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141802445G>A	ENST00000475668.2	+	69	8033	c.7979G>A	c.(7978-7980)gGa>gAa	p.G2660E	MGAM_ENST00000549489.2_Missense_Mutation_p.G1764E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1764					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGGGAAAGGACTCTATTAC	0.413000													5	21					0	0	0.00198382	0	0
PLP2	5355	broad.mit.edu	37	X	49029740	49029740	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:49029740C>T	ENST00000376327.5	+	3	330	c.255C>T	c.(253-255)ttC>ttT	p.F85F	PLP2_ENST00000376322.3_Silent_p.F85F	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	85	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CACAGGATTTCTTCCGAACCC	0.532000													9	18					0	0	0.00185496	0	0
SLIT3	6586	broad.mit.edu	37	5	168201350	168201350	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:168201350C>T	ENST00000519560.1	-	13	1604	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	SLIT3_ENST00000332966.8_Silent_p.R395R|SLIT3_ENST00000404867.3_Silent_p.R395R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	395			R -> Q (in dbSNP:rs2288792).		apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R395R(1)|p.R395L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTGTTCACCCGCAGGCAGT	0.537000													43	193					0	0	0.000781405	0	0
GORASP2	26003	broad.mit.edu	37	2	171822318	171822318	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171822318C>T	ENST00000234160.4	+	10	1852	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	GORASP2_ENST00000452526.2_Missense_Mutation_p.S358F|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	346	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCTCTTCCTTCCATGCCTCCC	0.522000													13	52					0	0	0.00229938	0	0
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353000													17	25					0	0	0.000566183	0	0
NEK10	152110	broad.mit.edu	37	3	27332781	27332781	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:27332781C>T	ENST00000429845.2	-	19	1939	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	NEK10_ENST00000341435.5_Missense_Mutation_p.G526E|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	526	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCTCCACTTCCAAGATGATC	0.403000													22	64					0	0	0.00047179	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531559	74531559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:74531559G>A	ENST00000553458.1	-	11	1567	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S477F|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.S207F|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	490						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCCCTGAAGGAGGATCGAGA	0.403000													5	30					0	0	0.000602214	0	0
CP	1356	broad.mit.edu	37	3	148916180	148916180	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:148916180C>T	ENST00000264613.6	-	9	1949	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	563	F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G563*(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTAAACTTCCTTTCTTGCAT	0.358000													23	40					0	0	0.000586117	0	0
SLC13A5	284111	broad.mit.edu	37	17	6609960	6609960	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6609960C>T	ENST00000433363.2	-	3	602		c.e3+1		SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5							integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGCGTAATTACCGTGCAGGCT	0.657000													4	13					0	0	0.00024832	0	0
KCNV1	27012	broad.mit.edu	37	8	110980428	110980428	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110980428G>A	ENST00000524391.1	-	4	2424	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	KCNV1_ENST00000297404.1_Silent_p.I464I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	464						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGTTAACACTGATATATGAGT	0.463000													11	38					0	0	0.000978159	0	0
CLIP2	7461	broad.mit.edu	37	7	73803525	73803525	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:73803525C>T	ENST00000223398.6	+	13	2983	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	CLIP2_ENST00000395060.1_Missense_Mutation_p.R886W|CLIP2_ENST00000361545.5_Missense_Mutation_p.R851W	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	886						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GACCGTGTCCCGGAAGACCCA	0.672000													8	28					0	0	0.000157383	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891059	2891059	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2891059G>A	ENST00000254528.3	+	4	1093	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	312					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.E312K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GACAACCAACGAACTCTACCA	0.547000													18	125					0	0	0.00188189	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761569	92761569	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92761569G>A	ENST00000318238.4	-	5	4932	c.3716C>T	c.(3715-3717)cCt>cTt	p.P1239L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1239L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1239L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1239										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGATCAGGAGGAATGGTCCA	0.348000													8	37					0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196651884	196651884	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196651884C>T	ENST00000312428.6	-	58	10828	c.10728G>A	c.(10726-10728)aaG>aaA	p.K3576K	DNAH7_ENST00000409063.1_Silent_p.K59K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3576	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3576N(1)		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						AAAGCAATTTCTTGAATTCCT	0.338000													18	79					0	0	0.00229938	0	0
VPS13C	54832	broad.mit.edu	37	15	62233965	62233965	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:62233965G>A	ENST00000261517.5	-	46	5523	c.5450C>T	c.(5449-5451)tCa>tTa	p.S1817L	VPS13C_ENST00000249837.3_Missense_Mutation_p.S1774L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1774L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1817L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1817					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTATACCTTGACAGCTTCAA	0.313000													8	54					0	0	0.000274275	0	0
CDH17	1015	broad.mit.edu	37	8	95158316	95158316	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:95158316C>T	ENST00000027335.3	-	15	2131	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	CDH17_ENST00000441892.2_Silent_p.K455K|CDH17_ENST00000450165.2_Silent_p.K669K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	669	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCGTGTAGTCCTTGGCTAGCC	0.498000													5	13					0	0	0.00198382	0	0
BCAN	63827	broad.mit.edu	37	1	156622570	156622570	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:156622570C>T	ENST00000329117.4	+	8	2164	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P610S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	610					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGAGGCCCCCTCTGAAGA	0.662000													9	27					0	0	0.000274275	0	0
MCTP1	79772	broad.mit.edu	37	5	94275843	94275843	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:94275843C>T	ENST00000515393.1	-	5	1117	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	MCTP1_ENST00000312216.8_Missense_Mutation_p.G152E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G152E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G152E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	373					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CAAAATGATTCCAAGATCATG	0.413000													6	38					0	0	0.000157383	0	0
SCN5A	6331	broad.mit.edu	37	3	38627476	38627476	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38627476G>A	ENST00000413689.1	-	16	2686	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	SCN5A_ENST00000423572.2_Silent_p.I831I|SCN5A_ENST00000451551.2_Silent_p.I831I|SCN5A_ENST00000449557.2_Silent_p.I831I|SCN5A_ENST00000450102.2_Silent_p.I831I|SCN5A_ENST00000443581.1_Silent_p.I831I|SCN5A_ENST00000333535.4_Silent_p.I831I|SCN5A_ENST00000425664.1_Silent_p.I831I|SCN5A_ENST00000455624.2_Silent_p.I831I|SCN5A_ENST00000414099.2_Silent_p.I831I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	831					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTTCCCGATGATCTTGATGA	0.567000													11	35					0	0	0.000219431	0	0
NFATC4	4776	broad.mit.edu	37	14	24839582	24839582	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24839582C>T	ENST00000413692.2	+	3	1311	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	NFATC4_ENST00000553469.1_Silent_p.I358I|NFATC4_ENST00000553879.1_Silent_p.I256I|NFATC4_ENST00000553708.1_Silent_p.I326I|NFATC4_ENST00000555453.1_Silent_p.I314I|NFATC4_ENST00000556169.1_Silent_p.I314I|NFATC4_ENST00000554591.1_Silent_p.I389I|NFATC4_ENST00000556279.1_Silent_p.I358I|NFATC4_ENST00000554966.1_Silent_p.I339I|NFATC4_ENST00000555590.1_Silent_p.I339I|NFATC4_ENST00000424781.2_Silent_p.I339I|NFATC4_ENST00000554050.1_Silent_p.I326I|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Silent_p.I256I|NFATC4_ENST00000554344.1_Silent_p.I256I|NFATC4_ENST00000539237.2_Silent_p.I358I|NFATC4_ENST00000557451.1_Silent_p.I256I|NFATC4_ENST00000250373.4_Silent_p.I326I|NFATC4_ENST00000422617.3_Silent_p.I314I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	326					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGAGAGCATCCCTCAGAAGA	0.662000													7	49					0	0	0.000157383	0	0
TMEM130	222865	broad.mit.edu	37	7	98445712	98445712	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:98445712G>A	ENST00000450876.1	-	8	2302	c.987C>T	c.(985-987)ccC>ccT	p.P329P	TMEM130_ENST00000416379.2_Silent_p.P425P|TMEM130_ENST00000339375.4_Silent_p.P413P|TMEM130_ENST00000546258.1_Silent_p.P394P|TMEM130_ENST00000345589.4_Silent_p.P311P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	425						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACTTATAGAGGGGCGGGAGCA	0.557000													8	58					0	0	0.000673444	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271942	28271942	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:28271942C>T	ENST00000373894.3	+	2	452	c.261C>T	c.(259-261)ttC>ttT	p.F87F	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Silent_p.F87F|SMPDL3B_ENST00000373888.4_Silent_p.F87F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	87					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		AGCCAGACTTCATTCTCTGGA	0.552000													10	33					0	0	0.000978159	0	0
PARD3	56288	broad.mit.edu	37	10	34620168	34620168	+	Missense_Mutation	SNP	G	G	A	rs139203609		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:34620168G>A	ENST00000374789.3	-	19	3044	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	PARD3_ENST00000374776.1_Missense_Mutation_p.P861S|PARD3_ENST00000346874.4_Missense_Mutation_p.P907S|PARD3_ENST00000340077.5_Missense_Mutation_p.P904S|PARD3_ENST00000374773.1_Missense_Mutation_p.P874S|PARD3_ENST00000374788.3_Missense_Mutation_p.P904S|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.P832S|PARD3_ENST00000544292.1_Missense_Mutation_p.P620S|PARD3_ENST00000545693.1_Missense_Mutation_p.P891S|PARD3_ENST00000350537.4_Missense_Mutation_p.P861S|PARD3_ENST00000374790.3_Missense_Mutation_p.P847S|PARD3_ENST00000545260.1_Missense_Mutation_p.P817S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	907	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.P907F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGATGGAAAGGAATATCCCCA	0.532000													6	43					0	0	0.00116845	0	0
CBL	867	broad.mit.edu	37	11	119148881	119148881	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:119148881A>T	ENST00000264033.4	+	8	1477	c.1101A>T	c.(1099-1101)caA>caT	p.Q367H		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	367	Asp/Glu-rich (acidic).|Linker.		Q -> P (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion).		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.E366_Q409del(13)|p.?(3)|p.Q367_Y368insQ(1)|p.E366_K477del(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)		CAAAGGAACAATATGAATTAT	0.299000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				18	24					0	0	0.000958276	0	0
WRN	7486	broad.mit.edu	37	8	30999245	30999245	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30999245C>T	ENST00000298139.5	+	26	3436	c.3187C>T	c.(3187-3189)Ctt>Ttt	p.L1063F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1063					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGCCTCATCCTTCAAGCTAA	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				24	54					0	0	0.001512	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985306	140985306	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:140985306G>A	ENST00000544766.1	+	5	1395	c.868G>A	c.(868-870)Gat>Aat	p.D290N	MAGEC3_ENST00000536088.1_Missense_Mutation_p.D290N|MAGEC3_ENST00000443323.2_Missense_Mutation_p.D210N|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.D290N	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATATATGGGGATCCCAGAAA	0.512000													9	27					0	0	0.000442599	0	0
MYH7	4625	broad.mit.edu	37	14	23898500	23898500	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23898500G>A	ENST00000355349.3	-	13	1357	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	399	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTGGCACAGCCCCTTGAGC	0.547000													13	60					0	0	0.000308642	0	0
PFKFB2	5208	broad.mit.edu	37	1	207242814	207242814	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207242814C>G	ENST00000367080.3	+	11	1157	c.1033C>G	c.(1033-1035)Cca>Gca	p.P345A	PFKFB2_ENST00000367079.2_Missense_Mutation_p.P345A|PFKFB2_ENST00000411990.2_Missense_Mutation_p.P247A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.P312A|PFKFB2_ENST00000541914.1_Missense_Mutation_p.P159A	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	345	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAACGGTACCCAGAAGAGTT	0.488000													7	74					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9049941	9049941	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9049941C>T	ENST00000397910.4	-	5	31893	c.31690G>A	c.(31690-31692)Gaa>Aaa	p.E10564K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10566	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGATTCTCTATTGAAA	0.493000													26	60					0	0	0.000586117	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474652	102474652	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102474652T>A	ENST00000360184.4	+	29	6119	c.5955T>A	c.(5953-5955)caT>caA	p.H1985Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1985	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCGTGAACATTCCAACCCCA	0.498000													9	35					0	0	0.000978159	0	0
MID2	11043	broad.mit.edu	37	X	107084487	107084487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:107084487C>T	ENST00000262843.6	+	2	1140	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	MID2_ENST00000443968.2_Missense_Mutation_p.H198Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	198						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTGCCTGGACCATGAGAATGA	0.537000													13	18					0	0	0.000219431	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597468	6597468	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:6597468G>A	ENST00000433363.2	-	8	1337	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC13A5_ENST00000381074.4_Silent_p.F325F|SLC13A5_ENST00000293800.6_Silent_p.F351F|SLC13A5_ENST00000573648.1_Silent_p.F368F	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	368						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AAGGCACAATGAATAGCAGGG	0.527000													16	33					0	0	0.00121646	0	0
STAB1	23166	broad.mit.edu	37	3	52538484	52538484	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52538484C>T	ENST00000321725.6	+	11	1234	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	386	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGACCAGGGCTGCCGGGAAA	0.617000													23	70					0	0	0.001512	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373394	86373394	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:86373394C>T	ENST00000604798.1	-	8	2314	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	MGAT4C_ENST00000552808.2_Silent_p.G370G|MGAT4C_ENST00000393205.2_Silent_p.G399G|MGAT4C_ENST00000549405.2_Silent_p.G370G|MGAT4C_ENST00000548651.1_Silent_p.G370G|MGAT4C_ENST00000332156.1_Silent_p.G370G			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	370					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGGTGGTTTCCCCCAAAAGT	0.353000													9	7					0	0	0.000274275	0	0
OGDHL	55753	broad.mit.edu	37	10	50959894	50959894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:50959894G>A	ENST00000374103.4	-	6	813	c.728C>T	c.(727-729)gCc>gTc	p.A243V	OGDHL_ENST00000419399.1_Missense_Mutation_p.A186V|OGDHL_ENST00000432695.1_Missense_Mutation_p.A34V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	243					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACTAGCCGGGCCAGCAGGGT	0.607000													21	62					0	0	0.000586117	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427441	25427441	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:25427441C>T	ENST00000424208.1	+	0	238					NR_003305.1																						AGATCGGGCCCTTCCTGGTGC	0.627000													4	24					0	0	0.00024832	0	0
PTPRE	5791	broad.mit.edu	37	10	129854412	129854412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129854412G>A	ENST00000254667.3	+	7	725	c.446G>A	c.(445-447)gGa>gAa	p.G149E	PTPRE_ENST00000306042.5_Missense_Mutation_p.G91E|PTPRE_ENST00000471218.1_Silent_p.R147R|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000419012.2_Missense_Mutation_p.G149E	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	149	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CACATACAAGGAACTTTTGAA	0.368000													34	181					0	0	0.000509022	0	0
ASPM	259266	broad.mit.edu	37	1	197097757	197097757	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197097757G>A	ENST00000367409.4	-	10	3055	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	ASPM_ENST00000367408.1_Silent_p.F183F|ASPM_ENST00000294732.7_Silent_p.F933F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	933	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCACTTAGGAAATCTCGTG	0.333000													5	41					0	0	0.000602214	0	0
CACNA1A	773	broad.mit.edu	37	19	13414658	13414658	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:13414658C>T	ENST00000360228.5	-	16	2026	c.2027G>A	c.(2026-2028)gGg>gAg	p.G676E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G677E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	677					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGACTTGATCCCGTCGTACAT	0.557000													69	193					0	0	0.000781405	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714125	81714125	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:81714125C>T	ENST00000356860.3	-	7	956	c.618G>A	c.(616-618)caG>caA	p.Q206Q	CACNA2D1_ENST00000423588.1_Silent_p.Q206Q|CACNA2D1_ENST00000356253.5_Silent_p.Q206Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	206						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCAAAAACCTGCCACAATA	0.408000													15	59					0	0	0.000422831	0	0
APC	324	broad.mit.edu	37	5	112176564	112176564	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:112176564C>T	ENST00000457016.1	+	16	5653	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S1758F|APC_ENST00000257430.4_Missense_Mutation_p.S1758F			P25054	APC_HUMAN	adenomatous polyposis coli	1758	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCGTCTTCTTCTGCACCCAAC	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	44					0	0	0.000157383	0	0
PKIA	5569	broad.mit.edu	37	8	79510748	79510748	+	Silent	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:79510748A>C	ENST00000396418.2	+	3	615	c.129A>C	c.(127-129)gcA>gcC	p.A43A	PKIA_ENST00000518467.1_Silent_p.A43A|PKIA_ENST00000352966.5_Silent_p.A43A	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	43							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TGAAATTAGCAGGTCTTGATA	0.393000													16	61					0	0	0.00121646	0	0
NLRP8	126205	broad.mit.edu	37	19	56465910	56465910	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:56465910C>T	ENST00000291971.3	+	3	557	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NLRP8_ENST00000590542.1_Silent_p.F162F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	162						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAAAGTTTTTCCCCATATGGG	0.443000													23	34					0	0	0.00047179	0	0
COL22A1	169044	broad.mit.edu	37	8	139790639	139790639	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:139790639C>T	ENST00000303045.6	-	15	2161	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G572E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	572	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G572A(1)|p.G572S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGGTGGTCCTTGGGGCCC	0.552000										HNSCC(7;0.00092)			4	35					0	0	0.00024832	0	0
COL3A1	1281	broad.mit.edu	37	2	189859813	189859813	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:189859813C>T	ENST00000304636.3	+	21	1667	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	COL3A1_ENST00000317840.5_Silent_p.I499I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	499	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAAATGGCATCCCAGGAGAAA	0.383000													23	73					0	0	0.000586117	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:35083353C>T	ENST00000290378.4	-	6	1607	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000													44	188					0	0	0.000680045	0	0
ABCD2	225	broad.mit.edu	37	12	40012889	40012889	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:40012889T>C	ENST00000308666.3	-	1	664	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	177	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACTAGGCGAGTTCTGAAGGCC	0.423000													26	66					0	0	0.00209593	0	0
IFITM2	10581	broad.mit.edu	37	11	309089	309089	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:309089G>T	ENST00000399817.4	+	2	353	c.323G>T	c.(322-324)tGg>tTg	p.W108L	IFITM2_ENST00000602569.1_Missense_Mutation_p.W88L|IFITM2_ENST00000533141.1_Missense_Mutation_p.W88L	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	108					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAACATCTGGGCCCTGATT	0.587000													6	54					0.00198382	0.0087276	0.00198382	1	0
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:184764460C>T	ENST00000367511.3	-	14	2631	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657000													12	27					0	0	0.00136819	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42863329	42863329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:42863329G>A	ENST00000455697.1	-	4	592	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.Q103*|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.Q103*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	103	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCTTCCGCTGAGCACTGAAC	0.488000													19	32					0	0	0.000958276	0	0
NCLN	56926	broad.mit.edu	37	19	3192621	3192621	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3192621C>T	ENST00000246117.4	+	2	769	c.338C>T	c.(337-339)cCc>cTc	p.P113L	NCLN_ENST00000590671.1_Missense_Mutation_p.P39L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	113					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCATCCTGCCCAGGGCCATG	0.706000													14	42					0	0	0.000422831	0	0
TREML3P	340206	broad.mit.edu	37	6	41185596	41185596	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:41185596C>T	ENST00000564680.1	-	0	89																											GTAAGGTACACCGACTTGGCG	0.498000													9	15					0	0	0.000442599	0	0
FLG2	388698	broad.mit.edu	37	1	152324960	152324960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152324960C>T	ENST00000388718.5	-	3	5374	c.5302G>A	c.(5302-5304)Gga>Aga	p.G1768R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1768							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATAGTTCCATGTCTCTCA	0.502000													46	73					0	0	0.000680045	0	0
CASZ1	54897	broad.mit.edu	37	1	10719910	10719910	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:10719910G>A	ENST00000377022.3	-	6	1506	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	CASZ1_ENST00000344008.5_Missense_Mutation_p.P397S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	397	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGGTGCGGGAGCCAGGCTG	0.706000													12	39					0	0	0.00136819	0	0
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Missense_Mutation	SNP	C	C	T	rs150529114		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7774362C>T	ENST00000358415.4	+	14	1875	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488000													19	46					0	0	0.00152264	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26666622	26666622	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:26666622G>A	ENST00000226225.2	+	2	342	c.75G>A	c.(73-75)ttG>ttA	p.L25L	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	25					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGGAGGGTTGGGCAACAAGT	0.622000													20	48					0	0	0.00152264	0	0
CGN	57530	broad.mit.edu	37	1	151491794	151491794	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151491794C>T	ENST00000271636.7	+	2	932	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	261	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAGCCGTTCTCGTCAGACTCA	0.582000													6	48					0	0	0.00116845	0	0
A1CF	29974	broad.mit.edu	37	10	52603746	52603746	+	Splice_Site	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:52603746A>C	ENST00000395489.2	-	6	610		c.e6+1		A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000373995.3_Splice_Site	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATTTGGACTCACTTTTTCACA	0.393000													21	121					0	0	0.000375601	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964370	88964370	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:88964370G>A	ENST00000333190.4	+	4	2683	c.2074G>A	c.(2074-2076)Gga>Aga	p.G692R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	692						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCCGGATGTGGAAACCAAAG	0.448000										HNSCC(36;0.09)			10	14					0	0	0.000442599	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046333	62046333	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62046333C>T	ENST00000354587.3	-	11	1540	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	KCNQ2_ENST00000370226.1_Missense_Mutation_p.S453N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S455N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S483N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S465N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.S455N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S455N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.S453N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.S443N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.S483N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	483					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAAGCTCCAGCTCTTGGGCAC	0.692000													10	90					0	0	0.00136819	0	0
KIRREL	55243	broad.mit.edu	37	1	158064487	158064487	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:158064487C>T	ENST00000368172.1	+	11	1305	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	KIRREL_ENST00000359209.6_Silent_p.S617S|KIRREL_ENST00000368173.3_Silent_p.S633S|KIRREL_ENST00000416935.2_Silent_p.S517S|KIRREL_ENST00000360089.4_Silent_p.S453S|KIRREL_ENST00000392272.2_Silent_p.S514S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	617	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCGTCTTCCAGGGCAGTGC	0.637000													16	37					0	0	0.000308642	0	0
TNXB	7148	broad.mit.edu	37	6	32065731	32065731	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32065731G>A	ENST00000375244.3	-	2	446	c.245C>T	c.(244-246)tCc>tTc	p.S82F	TNXB_ENST00000375247.2_Missense_Mutation_p.S82F|TNXB_ENST00000479795.1_Missense_Mutation_p.S82F			P22105	TENX_HUMAN	tenascin XB	82					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGCCAGTGGAAGGGGGCAG	0.612000													79	139					0	0	0.000781405	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:110919263G>A	ENST00000316534.4	-	10	1112	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R228*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R346*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R290*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R291*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000													9	32					0	0	0.000442599	0	0
BLVRA	644	broad.mit.edu	37	7	43846743	43846743	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:43846743C>T	ENST00000402924.1	+	9	963	c.800C>T	c.(799-801)tCt>tTt	p.S267F	BLVRA_ENST00000265523.4_Missense_Mutation_p.S267F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	267					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCCAGTTCTCTGAGAAGGAA	0.433000													19	39					0	0	0.00074312	0	0
CAPN5	726	broad.mit.edu	37	11	76823641	76823641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:76823641C>T	ENST00000278559.3	+	4	493	c.304C>T	c.(304-306)Cca>Tca	p.P102S	CAPN5_ENST00000456580.2_Missense_Mutation_p.P142S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P102S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	102	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCAGGTCATCCCAGACTGGAA	0.617000													14	46					0	0	0.000958276	0	0
DSC2	1824	broad.mit.edu	37	18	28671000	28671000	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28671000G>A	ENST00000280904.6	-	4	908	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DSC2_ENST00000251081.6_Silent_p.F155F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	155	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCTGTTGAAGGAAAAGTGGAA	0.398000													6	27					0	0	0.00198382	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991348	39991348	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:39991348C>T	ENST00000332312.3	-	4	1053	c.861G>A	c.(859-861)cgG>cgA	p.R287R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	287						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTGGGGCTTCCCGCAGCCGCT	0.642000													8	33					0	0	0.000157383	0	0
HYDIN	54768	broad.mit.edu	37	16	70913365	70913365	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:70913365G>A	ENST00000393567.2	-	62	10542	c.10392C>T	c.(10390-10392)ctC>ctT	p.L3464L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3464										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCAAACACGAGGCCTCGGC	0.567000													10	22					0	0	0.00185496	0	0
LIMCH1	22998	broad.mit.edu	37	4	41607998	41607998	+	Missense_Mutation	SNP	G	G	A	rs146838350		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:41607998G>A	ENST00000313860.7	+	6	517	c.463G>A	c.(463-465)Gga>Aga	p.G155R	LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G155R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G155R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	155					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGAGTTTGAAGGATTGTTGGC	0.418000													14	35					0	0	0.000566183	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243150	23243150	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23243150C>T	ENST00000397532.3	-	9	1946	c.1421G>A	c.(1420-1422)aGg>aAg	p.R474K	SLC7A7_ENST00000285850.7_Missense_Mutation_p.R474K|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R474K|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R208K|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R474K|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R474K			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	474					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCACGATCCTTCGGAGGTA	0.498000													15	45					0	0	0.000566183	0	0
REG1P	5969	broad.mit.edu	37	2	79363185	79363185	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:79363185C>T	ENST00000444841.1	-	0	1153																											ACCCACTACTCCACTGATAAT	0.517000													5	10					0	0	0.00198382	0	0
UNC13C	440279	broad.mit.edu	37	15	54786930	54786930	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:54786930C>T	ENST00000545554.1	+	19	5058	c.5058C>T	c.(5056-5058)tcC>tcT	p.S1686S	UNC13C_ENST00000260323.11_Silent_p.S1686S|UNC13C_ENST00000537900.1_Silent_p.S1684S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1686	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAATACTCCTTGTAAGTAG	0.348000													25	109					0	0	0.001512	0	0
MYH4	4622	broad.mit.edu	37	17	10362706	10362706	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10362706G>A	ENST00000255381.2	-	15	1559	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	483	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTCGTTGGTGAAGTTGATGC	0.418000													29	58					0	0	0.000491102	0	0
METTL4	64863	broad.mit.edu	37	18	2539090	2539090	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:2539090C>T	ENST00000574538.1	-	9	2103	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	METTL4_ENST00000319888.6_Silent_p.S412S	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	443					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGTAAATTTCGAGCAAACAA	0.363000													31	76					0	0	0.000692331	0	0
ZNF208	7757	broad.mit.edu	37	19	22154164	22154164	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22154164G>A	ENST00000397126.4	-	4	3820	c.3672C>T	c.(3670-3672)ccC>ccT	p.P1224P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P1096P(2)|p.P1224P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.383000													4	31					0	0	0.00024832	0	0
SYN2	6854	broad.mit.edu	37	3	12203206	12203206	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:12203206G>A	ENST00000432424.2	+	0	1009							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGTCACTGATGAATTCTTTCC	0.493000													19	62					0	0	0.00074312	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	G	A	rs141991055	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:189012810G>A	ENST00000512729.1	-	7	1255	c.881C>T	c.(880-882)tCg>tTg	p.S294L	TRIML2_ENST00000326754.3_Missense_Mutation_p.S319L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	294	B30.2/SPRY.						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)		CCCCATCACCGACCCCGTGAG	0.572000													36	127					0	0	0.00128727	0	0
ICAM4	3386	broad.mit.edu	37	19	10398348	10398348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:10398348C>T	ENST00000340992.4	+	2	493	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.S177S|ICAM4_ENST00000393717.2_Silent_p.S177S	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCATCTATTCCGAAAGCCTGG	0.602000													22	49					0	0	0.00152264	0	0
ZNF195	7748	broad.mit.edu	37	11	3380851	3380851	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3380851C>T	ENST00000354599.6	-	4	1275	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	ZNF195_ENST00000526601.1_Missense_Mutation_p.E444K|ZNF195_ENST00000343338.7_Missense_Mutation_p.E395K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E395K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.E440K|ZNF195_ENST00000399602.4_Missense_Mutation_p.E463K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	463				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGGGTTTCTCTCCGGTGTGA	0.448000													13	67					0	0	0.000308642	0	0
LINC00969	440993	broad.mit.edu	37	3	195390979	195390979	+	RNA	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:195390979T>C	ENST00000445430.1	+	0	505																											GGCATGCCGTTTAGCAGAACT	0.438000													4	120					0	0	0.000422831	0	0
FBXO18	84893	broad.mit.edu	37	10	5948548	5948548	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5948548C>T	ENST00000379999.5	+	4	963	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.L236L|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	236					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTATTGGAACCTGAGCTTGGT	0.557000													23	78					0	0	0.000720815	0	0
DOCK7	85440	broad.mit.edu	37	1	63044524	63044524	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63044524G>A	ENST00000251157.5	-	17	2018	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	DOCK7_ENST00000340370.5_Missense_Mutation_p.P662L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	662	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGTTTCAAGAGGAGTATTTTG	0.303000													34	166					0	0	0.00148497	0	0
LRRC61	65999	broad.mit.edu	37	7	150034029	150034029	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150034029G>A	ENST00000359623.4	+	3	667	c.79G>A	c.(79-81)Gag>Aag	p.E27K	LRRC61_ENST00000493307.1_Missense_Mutation_p.E27K|LRRC61_ENST00000323078.7_Missense_Mutation_p.E27K	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	27										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACGCACAGGCGAGTTCTCCCT	0.637000													32	66					0	0	0.00178596	0	0
PLCD1	5333	broad.mit.edu	37	3	38061693	38061693	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38061693G>A	ENST00000463876.1	-	2	601	c.248C>T	c.(247-249)cCg>cTg	p.P83L	PLCD1_ENST00000334661.4_Missense_Mutation_p.P62L	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	62	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGACTCCGGGGTCCGCAT	0.567000													33	66					0	0	0.00170553	0	0
EDEM1	9695	broad.mit.edu	37	3	5244719	5244719	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:5244719C>T	ENST00000256497.4	+	5	1060	c.927C>T	c.(925-927)ctC>ctT	p.L309L	EDEM1_ENST00000445686.1_Silent_p.L114L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	309					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCGGTTCCCTCCTGGTGGAAT	0.537000													31	75					0	0	0.000491102	0	0
MURC	347273	broad.mit.edu	37	9	103348428	103348428	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:103348428C>T	ENST00000307584.5	+	2	855	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	264					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TAATGCAGCTCCCTCAAAGGA	0.517000													39	53					0	0	0.00148497	0	0
FRMD4B	23150	broad.mit.edu	37	3	69239092	69239092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:69239092G>A	ENST00000542259.1	-	19	2015	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	FRMD4B_ENST00000478263.1_Missense_Mutation_p.P228S|FRMD4B_ENST00000398540.3_Missense_Mutation_p.P576S			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	576						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCTCTGAGGGGATTATGTCT	0.328000													17	64					0	0	0.00074312	0	0
LRP1B	53353	broad.mit.edu	37	2	141202219	141202219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:141202219G>A	ENST00000389484.3	-	64	11058	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3363	LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCACACTGAAATCGGCCT	0.418000										TSP Lung(27;0.18)			20	40					0	0	0.00229938	0	0
TNXB	7148	broad.mit.edu	37	6	32029366	32029366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:32029366G>A	ENST00000375244.3	-	21	7501	c.7300C>T	c.(7300-7302)Ccc>Tcc	p.P2434S	TNXB_ENST00000375247.2_Missense_Mutation_p.P2434S			P22105	TENX_HUMAN	tenascin XB	2494	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCCCTGGGGGACGGTCCAG	0.692000													96	136					0	0	0.000781405	0	0
CDH4	1002	broad.mit.edu	37	20	60503423	60503423	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:60503423C>T	ENST00000360469.5	+	12	2035	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	CDH4_ENST00000543233.1_Silent_p.F575F	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	649	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.F649F(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTACGTCTTCGAGCTGCCCT	0.657000													9	99					0	0	0.000442599	0	0
PYGM	5837	broad.mit.edu	37	11	64521746	64521746	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64521746C>T	ENST00000164139.3	-	9	1469	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	PYGM_ENST00000377432.3_Silent_p.L269L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	357					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCATCCGTTCCAGGTCCACCA	0.647000													23	63					0	0	0.000586117	0	0
DYTN	391475	broad.mit.edu	37	2	207530676	207530676	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207530676C>T	ENST00000452335.2	-	10	1174	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	353						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTTTCAAATCGACAAATTCT	0.393000													23	65					0	0	0.000878237	0	0
GAK	2580	broad.mit.edu	37	4	887176	887176	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:887176G>A	ENST00000314167.4	-	9	1089	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	GAK_ENST00000511163.1_Missense_Mutation_p.P248S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	327					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTGTGATGGGAGACTTGGGG	0.672000													8	30					0	0	0.000274275	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175689	143175689	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143175689C>T	ENST00000408916.1	+	1	724	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCCTCATTCTTTATGCTCT	0.512000													10	75					0	0	0.000978159	0	0
LY75	4065	broad.mit.edu	37	2	160734882	160734882	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160734882C>T	ENST00000263636.4	-	11	1754	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E	LY75_ENST00000553424.1_Missense_Mutation_p.G576E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G576E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G576E|LY75_ENST00000554112.1_Missense_Mutation_p.G576E	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCGCCTTCTTCCACCAACAGT	0.408000													12	58					0	0	0.00185496	0	0
UNC13A	23025	broad.mit.edu	37	19	17759345	17759345	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17759345C>T	ENST00000428389.2	-	17	1974	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	UNC13A_ENST00000552293.1_Missense_Mutation_p.E571K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E571K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E569K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E571K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E571K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	571					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGCAGCCCCTCGCACTCGTAG	0.627000													16	48					0	0	0.00074312	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671398	25671398	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25671398G>A	ENST00000382051.3	+	7	815	c.765G>A	c.(763-765)aaG>aaA	p.K255K	SLC34A2_ENST00000504570.1_Silent_p.K254K|SLC34A2_ENST00000503434.1_Silent_p.K254K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	255					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACTTCAAGAATGGAGAAG	0.493000			T	ROS1	NSCLC								30	142					0	0	0.00178596	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219149	134219149	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:134219149C>T	ENST00000305233.5	+	2	1204	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S382F	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	382										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GACTTGTCTTCTGGAAGTTCG	0.677000													13	79					0	0	0.000566183	0	0
GON4L	54856	broad.mit.edu	37	1	155723073	155723073	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:155723073G>A	ENST00000437809.1	-	29	5886	c.5764C>T	c.(5764-5766)Cca>Tca	p.P1922S	GON4L_ENST00000271883.5_Missense_Mutation_p.P1922S|GON4L_ENST00000368331.1_Missense_Mutation_p.P1922S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1922					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGCTCCTCTGGGGCTTCCTCT	0.602000													23	58					0	0	0.00188189	0	0
CNTN4	152330	broad.mit.edu	37	3	2787248	2787248	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:2787248C>T	ENST00000397461.1	+	5	609	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CNTN4_ENST00000427331.1_Silent_p.F75F|CNTN4_ENST00000418658.1_Silent_p.F75F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	75	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTATGGATTTCCGCTACAGTG	0.383000													27	116					0	0	0.00209593	0	0
TM4SF5	9032	broad.mit.edu	37	17	4675331	4675331	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4675331C>T	ENST00000270560.3	+	1	145	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	38						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CCTCCTGGACCAACACCAACC	0.622000													39	63					0	0	0.00148497	0	0
CRISP1	167	broad.mit.edu	37	6	49803125	49803125	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49803125G>A	ENST00000335847.4	-	8	755	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.F218F|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_Silent_p.F218F	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	218					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGTCACAGTCGAAGTATTCAT	0.383000													21	64					0	0	0.00188189	0	0
SPACA7	122258	broad.mit.edu	37	13	113086823	113086823	+	Missense_Mutation	SNP	G	G	A	rs150077672		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:113086823G>A	ENST00000375699.3	+	5	590	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SPACA7_ENST00000283550.3_Missense_Mutation_p.G171R			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	171						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TCAAAATATTGGAAGATCTTC	0.393000													15	47					0	0	0.000422831	0	0
ALPK2	115701	broad.mit.edu	37	18	56246303	56246303	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:56246303C>T	ENST00000361673.3	-	4	1918	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	569							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAGCAGATTCTTTGGCAGAG	0.522000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	35					0	0	0.00047179	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436562	25436562	+	RNA	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:25436562T>C	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1																						TGCCCTGGGTTGGGTCGATGA	0.537000													40	199					0	0	0.000781405	0	0
DYSF	8291	broad.mit.edu	37	2	71883420	71883420	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71883420G>A	ENST00000258104.3	+	42	4915	c.4638_splice	c.e42+1	p.K1546_splice	DYSF_ENST00000409762.1_Splice_Site_p.K1563_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Splice_Site_p.K1564_splice|DYSF_ENST00000409366.1_Splice_Site_p.K1568_splice|DYSF_ENST00000413539.2_Splice_Site_p.K1577_splice|DYSF_ENST00000409582.3_Splice_Site_p.K1584_splice|DYSF_ENST00000409744.1_Splice_Site_p.K1554_splice|DYSF_ENST00000429174.2_Splice_Site_p.K1567_splice|DYSF_ENST00000394120.2_Splice_Site_p.K1547_splice|DYSF_ENST00000409651.1_Splice_Site_p.K1578_splice|DYSF_ENST00000410020.3_Splice_Site_p.K1585_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1546						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGAATTTAAGGTAAATCCTC	0.522000													37	175					0	0	0.00128727	0	0
GLRA4	441509	broad.mit.edu	37	X	102974059	102974059	+	Missense_Mutation	SNP	G	G	A	rs111758425		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:102974059G>A	ENST00000372617.4	-	7	1279	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	287						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R287S(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGCCCACACGGGCAGGGGCA	0.577000													20	27					0	0	0.000958276	0	0
TENM1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:123654524C>T	ENST00000422452.2	-	18	3207	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	TENM1_ENST00000371130.3_Silent_p.T1048T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACAGGAATCGTTGAATGTG	0.493000													9	32					0	0	0.000274275	0	0
PTGFR	5737	broad.mit.edu	37	1	78959146	78959146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:78959146G>A	ENST00000370756.3	+	2	955	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	PTGFR_ENST00000370757.3_Missense_Mutation_p.G240S|PTGFR_ENST00000370758.1_Missense_Mutation_p.G240S	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	240					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCACAGACAAGGCAGATCTCA	0.413000													44	90					0	0	0.000781405	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032653	46032653	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46032653C>T	ENST00000334662.2	+	1	658	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	212	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TGTCCCTCCTctgccgccctg	0.682000													19	90					0	0	0.00121646	0	0
CHD2	1106	broad.mit.edu	37	15	93515498	93515498	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:93515498C>A	ENST00000394196.4	+	19	3424	c.2356C>A	c.(2356-2358)Ctc>Atc	p.L786I	CHD2_ENST00000557381.1_Missense_Mutation_p.L786I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	786					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTTCAGTCCCTCATAAGGAG	0.338000													6	56					0.000157383	0.000698722	0.000157383	1	0
PLCZ1	89869	broad.mit.edu	37	12	18876287	18876287	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:18876287T>A	ENST00000447925.2	-	4	588	c.319A>T	c.(319-321)Att>Ttt	p.I107F	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.I109F|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	109					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCAAAAGCAATAGCTTTACTC	0.318000													8	16					0	0	0.000274275	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143752	75143752	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75143752G>A	ENST00000268099.9	-	5	523	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	138					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GGATCTCTGTGGAGAAATCCT	0.552000													11	60					0	0	0.00136819	0	0
OXCT1	5019	broad.mit.edu	37	5	41749663	41749663	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41749663C>T	ENST00000196371.5	-	15	1545	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	OXCT1_ENST00000510634.1_Missense_Mutation_p.G65E|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.G276E|OXCT1_ENST00000512084.1_Missense_Mutation_p.G65E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	462					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ACATTGCTTTCCAGTCAATGG	0.299000													4	14					0	0	0.00116845	0	0
TEX11	56159	broad.mit.edu	37	X	69964064	69964064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:69964064C>T	ENST00000395889.2	-	11	898	c.743G>A	c.(742-744)aGc>aAc	p.S248N	TEX11_ENST00000374333.2_Missense_Mutation_p.S233N|TEX11_ENST00000344304.3_Missense_Mutation_p.S248N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	248							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AATATCATAGCTTTGGCTATC	0.249000													4	14					0	0	0.00024832	0	0
OR4K14	122740	broad.mit.edu	37	14	20483307	20483307	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20483307C>T	ENST00000305045.2	-	1	45	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGCAGAGTCCATGCAACACA	0.373000													15	21					0	0	0.00074312	0	0
CROCC	9696	broad.mit.edu	37	1	17263258	17263258	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:17263258C>T	ENST00000375541.5	+	9	1152	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	361					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)		AGAAACAGGCCCTGCTGCAGG	0.687000													7	19					0	0	0.00198382	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:86004545G>A	ENST00000304195.3	-	2	432	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCCACATAGCGAATGCCAAAG	0.498000													22	32					0	0	0.000720815	0	0
SI	6476	broad.mit.edu	37	3	164700134	164700134	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164700134G>A	ENST00000264382.3	-	47	5374	c.5312C>T	c.(5311-5313)tCc>tTc	p.S1771F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1771	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACATGAAGGGATCCAAGCCT	0.348000										HNSCC(35;0.089)			7	19					0	0	0.00198382	0	0
PCDH7	5099	broad.mit.edu	37	4	31144234	31144234	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:31144234C>T	ENST00000543491.1	+	3	3531	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGTCCACTTTCATGCCTGTTG	0.547000													15	65					0	0	0.00074312	0	0
ZNF236	7776	broad.mit.edu	37	18	74587487	74587487	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:74587487T>C	ENST00000253159.8	+	6	899	c.701T>C	c.(700-702)tTt>tCt	p.F234S	ZNF236_ENST00000320610.9_Missense_Mutation_p.F236S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	234					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGAAAGGCTTTTAACCAGAAG	0.458000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	68					0	0	0.000566183	0	0
ZNF696	79943	broad.mit.edu	37	8	144378433	144378433	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:144378433C>T	ENST00000330143.3	+	3	997	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTTCAACCTCCTCCGGCACC	0.726000													4	10					0	0	0.00024832	0	0
PDE6A	5145	broad.mit.edu	37	5	149240504	149240504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149240504G>A	ENST00000255266.5	-	22	2656	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	846					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTGGGCTGGGGTTTCCCCC	0.567000													4	19					0	0	0.000602214	0	0
SP100	6672	broad.mit.edu	37	2	231406721	231406721	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231406721A>G	ENST00000340126.4	+	28	2549	c.2518A>G	c.(2518-2520)Atc>Gtc	p.I840V	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATGCGTCTCATCTTTCATAA	0.438000													10	45					0	0	0.00136819	0	0
ATP2B4	493	broad.mit.edu	37	1	203682370	203682370	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203682370C>T	ENST00000357681.5	+	14	3412	c.2289C>T	c.(2287-2289)acC>acT	p.T763T	ATP2B4_ENST00000367218.3_Silent_p.T763T|ATP2B4_ENST00000367219.3_Silent_p.T751T|ATP2B4_ENST00000391954.2_Silent_p.T763T|ATP2B4_ENST00000341360.2_Silent_p.T763T	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	763					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAAGCACACCCTGGTGAAAG	0.562000													11	68					0	0	0.000219431	0	0
MMP3	4314	broad.mit.edu	37	11	102709863	102709863	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102709863C>T	ENST00000299855.5	-	7	1303	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	349	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAACGAGGTCCTTGCTAGTAA	0.373000													21	39					0	0	0.00188189	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873608	24873608	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:24873608G>A	ENST00000396432.2	-	26	6096	c.5610C>T	c.(5608-5610)atC>atT	p.I1870I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1869					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGATCTCCGATTTCTCCTC	0.532000													14	64					0	0	0.000219431	0	0
SLC6A1	6529	broad.mit.edu	37	3	11060385	11060385	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:11060385G>A	ENST00000287766.4	+	5	892		c.e5+1		SLC6A1_ENST00000536032.1_Splice_Site|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTTCACCACGGTGAGTGGTCC	0.577000													15	35					0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9074867	9074867	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9074867G>A	ENST00000397910.4	-	3	12782	c.12579C>T	c.(12577-12579)ttC>ttT	p.F4193F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4195	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGACAAGAAAACTGAGG	0.507000													12	40					0	0	0.000422831	0	0
PLVAP	83483	broad.mit.edu	37	19	17488043	17488043	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17488043G>A	ENST00000252590.4	-	1	116	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	19						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCAGCCCCGAGAGCTGCCC	0.622000													28	92					0	0	0.00058488	0	0
OR2A14	135941	broad.mit.edu	37	7	143826417	143826417	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143826417C>T	ENST00000408899.2	+	1	267	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTTGACATATCCTATGCTTCC	0.453000													33	152					0	0	0.000692331	0	0
TTN	7273	broad.mit.edu	37	2	179598488	179598488	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179598488C>T	ENST00000589042.1	-	53	15852	c.15628G>A	c.(15628-15630)Gaa>Aaa	p.E5210K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E3966K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4893K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4893	Ig-like 32.						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)			TTTCCGTCTTCTCTGATGACC	0.453000													28	101					0	0	0.00058488	0	0
RANBP17	64901	broad.mit.edu	37	5	170667947	170667947	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:170667947C>T	ENST00000523189.1	+	23	2602	c.2438C>T	c.(2437-2439)tCc>tTc	p.S813F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	813					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGATCCTGTCCCTTGGGAGC	0.383000			T	TRD@	ALL								16	71					0	0	0.000958276	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615202	7615202	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:7615202C>T	ENST00000221249.6	+	18	2147	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.P620P|PNPLA6_ENST00000545201.2_Silent_p.P546P|PNPLA6_ENST00000450331.3_Silent_p.P572P|PNPLA6_ENST00000600737.1_Silent_p.P611P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	611					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGCACAGCCCAGTGTGGTGC	0.642000													47	140					0	0	0.000781405	0	0
TG	7038	broad.mit.edu	37	8	134042252	134042252	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:134042252G>A	ENST00000220616.4	+	41	7263	c.7223G>A	c.(7222-7224)cGg>cAg	p.R2408Q	TG_ENST00000519543.1_Missense_Mutation_p.R541Q|TG_ENST00000377869.1_Missense_Mutation_p.R2351Q|TG_ENST00000542445.1_Missense_Mutation_p.R778Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2408					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAACTTTTCCGGAGAGCTGTG	0.607000													18	77					0	0	0.00229938	0	0
GADL1	339896	broad.mit.edu	37	3	30819706	30819706	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:30819706C>T	ENST00000282538.5	-	14	1507	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	453					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGTCCTTCTTCCATCTCTCTG	0.328000													39	111					0	0	0.000589545	0	0
KLF7	8609	broad.mit.edu	37	2	207988766	207988766	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207988766G>A	ENST00000309446.6	-	2	841	c.465C>T	c.(463-465)ctC>ctT	p.L155L	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Silent_p.L127L|KLF7_ENST00000423015.1_Silent_p.L155L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Silent_p.L122L	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	155					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CCACGGCAGAGAGAGTTTGTG	0.597000													14	61					0	0	0.00074312	0	0
F5	2153	broad.mit.edu	37	1	169484697	169484697	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:169484697G>A	ENST00000367796.3	-	24	6729	c.6528C>T	c.(6526-6528)tcC>tcT	p.S2176S	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Silent_p.S2171S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2171	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACCATGGAGGATTTCAGCC	0.438000													27	125					0	0	0.000692331	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185143	48185143	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:48185143C>T	ENST00000418331.2	+	23	4044	c.3692C>T	c.(3691-3693)cCc>cTc	p.P1231L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1231	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGTCCTCCCGAATCGCCG	0.488000													5	33					0	0	0.000602214	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500145	48500145	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:48500145G>A	ENST00000396577.3	+	2	444	c.229G>A	c.(229-231)Gga>Aga	p.G77R	SLC12A1_ENST00000558405.1_Missense_Mutation_p.G77R|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G77R|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G77R|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G77R	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	77					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTCCAAAGTGGAGAAACTGC	0.423000													15	41					0	0	0.000308642	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147239	26147239	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:26147239C>T	ENST00000331351.5	+	2	1433	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	347					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCAGTATTTCCCCCTCTCCC	0.537000													35	44					0	0	0.00058488	0	0
OR2A12	346525	broad.mit.edu	37	7	143793110	143793110	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143793110C>T	ENST00000408949.2	+	1	970	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGAGAGTCCTTTGGAAACA	0.433000													64	115					0	0	0.000781405	0	0
PML	5371	broad.mit.edu	37	15	74336704	74336704	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:74336704C>T	ENST00000565898.1	+	8	1944	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	PML_ENST00000268058.3_Silent_p.S668S			P29590	PML_HUMAN	promyelocytic leukemia	668					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTCTGAGCTCCATGCGCCGCC	0.602000			T	"""RARA, PAX5"""	"""APL, ALL"""								17	61					0	0	0.000958276	0	0
COL6A6	131873	broad.mit.edu	37	3	130292986	130292986	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130292986G>A	ENST00000358511.6	+	7	3195	c.3164G>A	c.(3163-3165)gGa>gAa	p.G1055E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1055E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1055	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTCCACTGGGAACTTTCATA	0.453000													7	29					0	0	0.00198382	0	0
SDK1	221935	broad.mit.edu	37	7	4188923	4188923	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:4188923G>A	ENST00000404826.2	+	30	4592	c.4453G>A	c.(4453-4455)Gtg>Atg	p.V1485M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1485M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1485	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGCTCCTGGTGCCCCAGGC	0.667000													7	27					0	0	0.000274275	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102471549	102471549	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:102471549C>T	ENST00000360184.4	+	26	5573	c.5409C>T	c.(5407-5409)ctC>ctT	p.L1803L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1803	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCCCCCACTCCGAAGGCGGA	0.532000													10	48					0	0	0.00136819	0	0
LRG1	116844	broad.mit.edu	37	19	4538062	4538062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:4538062G>A	ENST00000306390.6	-	2	1394	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	312	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCCAACGATAGAGGTCG	0.592000													23	70					0	0	0.00106085	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689631	150689631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:150689631C>T	ENST00000368995.4	-	3	266	c.12G>A	c.(10-12)tgG>tgA	p.W4*	HORMAD1_ENST00000368993.2_Missense_Mutation_p.G54E|HORMAD1_ENST00000361824.2_Missense_Mutation_p.G54E|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G54E|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	0					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATATCTTGTTCCATAAGCGCA	0.328000													19	160					0	0	0.000375601	0	0
GLRA3	8001	broad.mit.edu	37	4	175580240	175580240	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:175580240C>G	ENST00000274093.3	-	8	1538	c.1036G>C	c.(1036-1038)Gaa>Caa	p.E346Q	GLRA3_ENST00000340217.5_Missense_Mutation_p.E346Q	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	346					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTCAGAAGTTCTTTGTGTTGT	0.363000													6	66					0	0	0.00116845	0	0
PRR23B	389151	broad.mit.edu	37	3	138739176	138739176	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:138739176C>T	ENST00000329447.5	-	1	592	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGAGCGTTCGTCGACGGAG	0.642000													13	74					0	0	0.000422831	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:13769652C>T	ENST00000265104.4	-	57	9782	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome				19	119					0	0	0.00188189	0	0
FXYD5	53827	broad.mit.edu	37	19	35657203	35657203	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35657203C>T	ENST00000342879.3	+	7	1240	c.462C>T	c.(460-462)ttC>ttT	p.F154F	FXYD5_ENST00000590686.1_Silent_p.F154F|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Silent_p.F154F|FXYD5_ENST00000541435.2_Silent_p.F154F|FXYD5_ENST00000392217.3_Silent_p.F83F|FXYD5_ENST00000588699.1_Silent_p.F154F|FXYD5_ENST00000392219.2_Silent_p.F154F|FXYD5_ENST00000423817.3_Silent_p.F154F			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	154					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGTGCTGTTCATCACAGGCA	0.552000													43	62					0	0	0.000781405	0	0
DVL1	1855	broad.mit.edu	37	1	1273960	1273960	+	Silent	SNP	C	C	A	rs148871455		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1273960C>A	ENST00000378888.5	-	12	1565	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	DVL1_ENST00000378891.5_Silent_p.S402S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	427	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTCCAGTCCCGAGTCTGGCA	0.652000													5	80					0.00116845	0.00515798	0.00116845	1	0
PTPRU	10076	broad.mit.edu	37	1	29630521	29630521	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:29630521G>A	ENST00000373779.3	+	16	2760	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K	PTPRU_ENST00000428026.2_Silent_p.K877K|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.K877K|PTPRU_ENST00000323874.8_Silent_p.K877K|PTPRU_ENST00000356870.3_Silent_p.K877K|PTPRU_ENST00000345512.3_Silent_p.K887K	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	887	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCAGATGAAGACGGCCGAGG	0.652000													38	68					0	0	0.000509022	0	0
ACO2	50	broad.mit.edu	37	22	41924005	41924005	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:41924005G>A	ENST00000396512.3	+	17	2279	c.2262G>A	c.(2260-2262)ctG>ctA	p.L754L	ACO2_ENST00000216254.4_Silent_p.L729L|POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	729					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TTCAGGGCCTGAAGGACTTCA	0.617000													45	168					0	0	0.000781405	0	0
CLUH	23277	broad.mit.edu	37	17	2601573	2601573	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:2601573G>A	ENST00000570628.1	-	10	1569	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CLUH_ENST00000435359.1_Silent_p.I488I|CLUH_ENST00000538975.1_Silent_p.I488I|CLUH_ENST00000575014.1_Silent_p.I420I					clustered mitochondria (cluA/CLU1) homolog																		GGATGCCGGGGATGATGGACT	0.667000													8	14					0	0	0.000673444	0	0
KCTD7	154881	broad.mit.edu	37	7	66103239	66103239	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:66103239G>A	ENST00000275532.3	+	3	498		c.e3-1		KCTD7_ENST00000443322.1_Splice_Site	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7							voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCCTGCTTAGAGATGTGCTG	0.557000													30	84					0	0	0.000692331	0	0
OR2T27	403239	broad.mit.edu	37	1	248814116	248814116	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248814116G>A	ENST00000344889.3	-	1	69	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493000													5	41					0	0	0.00198382	0	0
GSDMA	284110	broad.mit.edu	37	17	38127782	38127782	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:38127782C>T	ENST00000301659.4	+	5	682	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	188					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCTAGGGATCCATAAATCACA	0.502000													19	15					0	0	0.00229938	0	0
ASUN	55726	broad.mit.edu	37	12	27070630	27070630	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:27070630G>A	ENST00000261191.7	-	9	1462	c.926C>T	c.(925-927)tCg>tTg	p.S309L	ASUN_ENST00000539625.1_Missense_Mutation_p.S208L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	309					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCTTTAAACGAGCCTTCTCG	0.353000													25	38					0	0	0.000878237	0	0
ABCC3	8714	broad.mit.edu	37	17	48750896	48750896	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48750896G>A	ENST00000285238.8	+	19	2556	c.2476G>A	c.(2476-2478)Gat>Aat	p.D826N		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	826	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGTGCTAGCTGATGGACAGGT	0.597000													22	34					0	0	0.000586117	0	0
NPAP1	23742	broad.mit.edu	37	15	24921093	24921093	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:24921093C>T	ENST00000329468.2	+	1	553	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGCCCCCGCTCCCCTGTCCCG	0.701000													5	23					0	0	0.00116845	0	0
TRAIP	10293	broad.mit.edu	37	3	49878431	49878431	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49878431G>A	ENST00000331456.2	-	8	805	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	231	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTCTGGAGGAAAACAAATC	0.507000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	192					0	0	0.000781405	0	0
PLD2	5338	broad.mit.edu	37	17	4722387	4722387	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:4722387G>C	ENST00000263088.6	+	22	2313	c.2182G>C	c.(2182-2184)Gca>Cca	p.A728P	PLD2_ENST00000572940.1_Missense_Mutation_p.A728P	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	728	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTGGGGACAGCATGGCGGGA	0.592000													21	33					0	0	0.00229938	0	0
NEB	4703	broad.mit.edu	37	2	152482047	152482047	+	Splice_Site	SNP	C	C	T	rs111863059		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:152482047C>T	ENST00000397345.3	-	71	10655		c.e71+1		NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGATCTTACCTCACTATAA	0.363000													5	21					0	0	0.000602214	0	0
SPATA4	132851	broad.mit.edu	37	4	177109326	177109326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:177109326G>A	ENST00000515234.1	-	4	1825	c.230C>T	c.(229-231)gCc>gTc	p.A77V	SPATA4_ENST00000280191.2_Missense_Mutation_p.A250V			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	250					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GCGCCCAGAGGCTTGGGCAGG	0.338000													7	76					0	0	0.000442599	0	0
MACC1	346389	broad.mit.edu	37	7	20198516	20198516	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:20198516C>T	ENST00000400331.5	-	5	1776	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	MACC1_ENST00000589011.1_Missense_Mutation_p.E490K|MACC1_ENST00000332878.4_Missense_Mutation_p.E490K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	490					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGAGGCTCCACTTGAACA	0.413000													33	38					0	0	0.000491102	0	0
PRSS48	345062	broad.mit.edu	37	4	152200991	152200991	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:152200991G>A	ENST00000455694.2	+	2	98	c.96G>A	c.(94-96)caG>caA	p.Q32Q	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	32	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TAGGTGGCCAGGATGCTGCTG	0.532000													7	45					0	0	0.00198382	0	0
CUZD1	50624	broad.mit.edu	37	10	124596429	124596429	+	Silent	SNP	G	G	A	rs138928505		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124596429G>A	ENST00000368904.1	-	7	1684	c.735C>T	c.(733-735)gtC>gtT	p.V245V	CUZD1_ENST00000545804.1_Silent_p.V245V|CUZD1_ENST00000392790.1_Silent_p.V245V			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	245	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TAGACAACACGACAGTCAGAG	0.448000													10	59					0	0	0.000978159	0	0
ITIH5	80760	broad.mit.edu	37	10	7608174	7608174	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:7608174C>T	ENST00000256861.6	-	13	2424	c.2346G>A	c.(2344-2346)ggG>ggA	p.G782G	ITIH5_ENST00000298441.6_Silent_p.G568G|ITIH5_ENST00000446830.2_Silent_p.G564G|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	782					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G782G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCCCCCAGCTCCCCACCACCA	0.567000													7	15					0	0	0.00198382	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463298	44463298	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:44463298G>A	ENST00000372310.3	-	14	1986	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V	SLC6A9_ENST00000475075.2_Silent_p.V496V|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.V626V|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.V680V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	680						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCAGTGGCTGGACCTCGAAGC	0.662000													70	207					0	0	0.000781405	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213017	26213017	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:26213017C>T	ENST00000379034.1	+	2	1203	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	352	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAACAGTGATCCTCCATGCTA	0.512000													12	14					0	0	0.00136819	0	0
METTL21B	25895	broad.mit.edu	37	12	58168519	58168519	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:58168519C>T	ENST00000333012.5	+	3	444	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000300209.8_Intron|METTL21B_ENST00000551420.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Missense_Mutation_p.P91S|METTL21B_ENST00000552307.1_3'UTR	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	0						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						TACCATGACTCCCTGGGAATC	0.557000													12	12					0	0	0.000422831	0	0
PSMA4	5685	broad.mit.edu	37	15	78834884	78834884	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78834884G>A	ENST00000044462.7	+	4	256	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PSMA4_ENST00000559082.1_Missense_Mutation_p.G36R|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.G36R|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000558341.1_Missense_Mutation_p.G36R|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACCTGTTTGGGAATTTTAGC	0.398000													53	217					0	0	0.000781405	0	0
ACOT11	26027	broad.mit.edu	37	1	55060346	55060346	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:55060346A>T	ENST00000371316.3	+	6	671	c.589A>T	c.(589-591)Aac>Tac	p.N197Y	ACOT11_ENST00000343744.2_Missense_Mutation_p.N197Y|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	197					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTCCTGGCCAACTGCGCCAT	0.667000													15	69					0	0	0.00074312	0	0
C8orf34	116328	broad.mit.edu	37	8	69621251	69621251	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:69621251G>A	ENST00000337103.4	+	8	2523	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	C8orf34_ENST00000325233.3_Missense_Mutation_p.E80K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E336K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E422K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	336					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAACCTGGAAGAAAGGACAGA	0.348000													6	13					0	0	0.00198382	0	0
ZNF99	7652	broad.mit.edu	37	19	22940058	22940058	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:22940058G>A	ENST00000397104.3	-	6	2272	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.348000													18	48					0	0	0.00152264	0	0
OR1L8	138881	broad.mit.edu	37	9	125330442	125330442	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125330442G>A	ENST00000304865.2	-	1	396	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAAGGCATAGAGAAAATACA	0.498000													13	43					0	0	0.000308642	0	0
ABCG2	9429	broad.mit.edu	37	4	89039317	89039317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:89039317C>T	ENST00000237612.3	-	7	1330	c.785G>A	c.(784-786)gGa>gAa	p.G262E	ABCG2_ENST00000515655.1_Missense_Mutation_p.G262E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	262	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CATAAGTCTTCCTGAGGCCAA	0.428000													6	25					0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9072625	9072625	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9072625G>A	ENST00000397910.4	-	3	15024	c.14821C>T	c.(14821-14823)Cct>Tct	p.P4941S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4943	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGGGCCAGGGAAGGATGTA	0.498000													22	55					0	0	0.00229938	0	0
TP63	8626	broad.mit.edu	37	3	189587161	189587161	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:189587161G>A	ENST00000264731.3	+	9	1267	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	TP63_ENST00000392460.3_Missense_Mutation_p.R393Q|TP63_ENST00000392463.2_Missense_Mutation_p.R299Q|TP63_ENST00000382063.4_Missense_Mutation_p.R308Q|TP63_ENST00000440651.2_Missense_Mutation_p.R389Q|TP63_ENST00000354600.5_Missense_Mutation_p.R299Q|TP63_ENST00000320472.5_Missense_Mutation_p.R393Q|TP63_ENST00000392461.3_Missense_Mutation_p.R299Q|TP63_ENST00000456148.1_Missense_Mutation_p.R295Q|TP63_ENST00000418709.2_Missense_Mutation_p.R393Q|TP63_ENST00000449992.1_Missense_Mutation_p.R214Q|TP63_ENST00000437221.1_Missense_Mutation_p.R299Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	393					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCAAGAAACGAAGATCCCCA	0.413000										HNSCC(45;0.13)			13	26					0	0	0.000422831	0	0
INTS2	57508	broad.mit.edu	37	17	59949765	59949765	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:59949765G>A	ENST00000444766.3	-	20	2738	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	INTS2_ENST00000251334.6_Missense_Mutation_p.S880F	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	888					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTAGGCTTTAGATGCAAGAAG	0.388000													7	24					0	0	0.000274275	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552724	43552724	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:43552724G>A	ENST00000430334.3	-	4	798	c.665C>T	c.(664-666)tCc>tTc	p.S222F	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S133F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	222					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ATGGGAAATGGAATCCAGAGA	0.557000													16	29					0	0	0.000566183	0	0
CCNK	8812	broad.mit.edu	37	14	99959117	99959117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:99959117C>T	ENST00000389879.5	+	2	226	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.P35S	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	35					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGCTCATACACCCTCACAACT	0.512000													6	24					0	0	0.00198382	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226926	61226926	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61226926G>A	ENST00000382768.1	+	3	419	c.419G>A	c.(418-420)gGa>gAa	p.G140E	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G120E			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	120					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGGCTTTATGGAGAGCAGGAA	0.448000													10	35					0	0	0.00136819	0	0
PAK7	57144	broad.mit.edu	37	20	9538306	9538306	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:9538306C>T	ENST00000378429.3	-	8	2238	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V	PAK7_ENST00000378423.1_Silent_p.V564V|PAK7_ENST00000353224.5_Silent_p.V564V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	564	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCTGTGAATCACTCCTTGGT	0.443000													6	39					0	0	0.00198382	0	0
COL23A1	91522	broad.mit.edu	37	5	177690259	177690259	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:177690259G>A	ENST00000390654.3	-	9	946	c.589C>T	c.(589-591)Cct>Tct	p.P197S	COL23A1_ENST00000407622.1_Missense_Mutation_p.P161S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	197	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCGCCAGGAGGGCCCCGGGCC	0.652000													10	30					0	0	0.000442599	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857330	9857330	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:9857330G>A	ENST00000396573.2	-	14	4380	c.4071C>T	c.(4069-4071)ctC>ctT	p.L1357L	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.L1357L|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.L1357L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1357					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1357L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCTGGCAAGAGAGACTTGC	0.537000													14	31					0	0	0.000308642	0	0
SPICE1	152185	broad.mit.edu	37	3	113172677	113172677	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:113172677G>A	ENST00000295872.4	-	14	2037	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	593					cell division|mitosis	centriole|spindle	protein binding	p.S593*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTTCACTTGAATTCTGAAT	0.428000													40	74					0	0	0.000781405	0	0
SMO	6608	broad.mit.edu	37	7	128845101	128845101	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:128845101C>T	ENST00000249373.3	+	3	875	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	199					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R199W(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCCTTGGTTCGGACAGACAA	0.582000			Mis		skin basal cell								16	34					0	0	0.000958276	0	0
OR13C2	392376	broad.mit.edu	37	9	107367354	107367354	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:107367354C>T	ENST00000542196.1	-	1	597	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGCCAGTTTCATGACAGCCA	0.398000													12	75					0	0	0.00185496	0	0
LIPT1	51601	broad.mit.edu	37	2	99778604	99778604	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:99778604A>G	ENST00000393477.3	+	4	536	c.184A>G	c.(184-186)Att>Gtt	p.I62V	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.I62V|LIPT1_ENST00000393471.2_Missense_Mutation_p.I62V|LIPT1_ENST00000393473.2_Missense_Mutation_p.I62V|LIPT1_ENST00000393474.3_Missense_Mutation_p.I62V	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	62					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AGGCAAACCAATTCTATTCTT	0.373000													36	116					0	0	0.00195071	0	0
ZFP14	57677	broad.mit.edu	37	19	36831980	36831980	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36831980G>A	ENST00000270001.7	-	5	863	c.748C>T	c.(748-750)Cat>Tat	p.H250Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCACCCGTATGAAGTCTCTGA	0.448000													13	36					0	0	0.000219431	0	0
KMT2D	8085	broad.mit.edu	37	12	49436573	49436573	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:49436573G>A	ENST00000301067.7	-	26	5732	c.5733C>T	c.(5731-5733)acC>acT	p.T1911T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTAGGCCAGGGGTTCCACAAC	0.542000													41	58					0	0	0.00195071	0	0
FAM104B	90736	broad.mit.edu	37	X	55172525	55172525	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:55172525G>A	ENST00000425133.2	-	3	381	c.343C>T	c.(343-345)Cca>Tca	p.P115S	FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.P113S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Missense_Mutation_p.P111S	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CATCATGTTGGAGCTTGCCCT	0.423000													4	12					0	0	0.00024832	0	0
PAM	5066	broad.mit.edu	37	5	102342696	102342696	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:102342696C>T	ENST00000438793.3	+	18	2465	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	PAM_ENST00000346918.2_Silent_p.F665F|PAM_ENST00000304400.7_Silent_p.F665F|PAM_ENST00000274392.9_Silent_p.F568F|PAM_ENST00000455264.2_Silent_p.F665F|PAM_ENST00000379787.4_Silent_p.F45F|PAM_ENST00000348126.2_Silent_p.F558F	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	665	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGGAAAGTTCATCACACAGT	0.443000													6	21					0	0	0.00116845	0	0
F8	2157	broad.mit.edu	37	X	154159549	154159549	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:154159549G>A	ENST00000360256.4	-	14	2716	c.2516C>T	c.(2515-2517)cCa>cTa	p.P839L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	839	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAGGTGATGGATCATCAGA	0.453000													5	14					0	0	0.00116845	0	0
CRB2	286204	broad.mit.edu	37	9	126132639	126132639	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:126132639G>A	ENST00000373631.3	+	7	1308	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	CRB2_ENST00000359999.3_Missense_Mutation_p.G436D|CRB2_ENST00000373629.2_Missense_Mutation_p.G104D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	436	EGF-like 9.|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCGTTCTGTGGCCAGAATACC	0.617000													26	38					0	0	0.000692331	0	0
KCNB1	3745	broad.mit.edu	37	20	47990206	47990206	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47990206C>T	ENST00000371741.4	-	2	2057	c.1891G>A	c.(1891-1893)Ggt>Agt	p.G631S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	631					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACTGGCACCCAGAGCTCCC	0.592000													14	28					0	0	0.00185496	0	0
PTPN12	5782	broad.mit.edu	37	7	77268027	77268027	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:77268027C>T	ENST00000248594.6	+	17	2532	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	PTPN12_ENST00000415482.2_Missense_Mutation_p.P635S|PTPN12_ENST00000435495.2_Missense_Mutation_p.P624S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	754						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCAGAAAATCCAACAGAAGC	0.353000													44	122					0	0	0.000781405	0	0
SV2C	22987	broad.mit.edu	37	5	75596726	75596726	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:75596726G>A	ENST00000502798.2	+	11	2251	c.1809G>A	c.(1807-1809)ctG>ctA	p.L603L	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.L603L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	603					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTGCTCTGCTGATGGACAGAA	0.453000													18	65					0	0	0.00229938	0	0
LCE2C	353140	broad.mit.edu	37	1	152648591	152648591	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152648591C>T	ENST00000368783.1	+	2	155	c.100C>T	c.(100-102)Cca>Tca	p.P34S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	34	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			caaATGCCCACCACAGTGCCC	0.602000													17	87					0	0	0.00074312	0	0
PENK	5179	broad.mit.edu	37	8	57354400	57354400	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:57354400C>T	ENST00000314922.3	-	2	311	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.D79N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	79					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGGTGCCATCTTGAGGAAGC	0.483000													31	104					0	0	0.000692331	0	0
TPO	7173	broad.mit.edu	37	2	1507821	1507821	+	Missense_Mutation	SNP	G	G	A	rs145974595		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1507821G>A	ENST00000345913.4	+	14	2579	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	TPO_ENST00000329066.4_Missense_Mutation_p.E830K|TPO_ENST00000349624.3_Missense_Mutation_p.E657K|TPO_ENST00000337415.3_Missense_Mutation_p.E830K|TPO_ENST00000382198.1_Missense_Mutation_p.E657K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.E773K|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	830	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGACCCCTACGAGTTAGGAGA	0.562000													11	62					0	0	0.000673444	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071169	102071169	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102071169G>A	ENST00000549145.1	+	27	3224	c.3124G>A	c.(3124-3126)Gat>Aat	p.D1042N	MYBPC1_ENST00000547509.1_Missense_Mutation_p.D997N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D992N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D998N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D999N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1036N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D912N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D1011N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D985N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D1011N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1036N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1029					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCGCCAGGGATGGTGAGTT	0.448000													14	19					0	0	0.000308642	0	0
VTN	7448	broad.mit.edu	37	17	26696014	26696014	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:26696014C>T	ENST00000226218.4	-	5	1323	c.705G>A	c.(703-705)ctG>ctA	p.L235L	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	235	Hemopexin-like 2.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AATCAGGGTCCAGGACACCAT	0.597000													32	58					0	0	0.00111076	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378808	92378808	+	Splice_Site	SNP	G	G	A	rs149167044		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92378808G>A	ENST00000276609.3	+	14	1728	c.1488_splice	c.e14-1	p.E497_splice	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Splice_Site_p.E497_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.E497_splice	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	497	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E497K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCCAAAAGGAAACCCTGCA	0.313000													8	41					0	0	0.000157383	0	0
C3orf33	285315	broad.mit.edu	37	3	155485418	155485418	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155485418T>C	ENST00000534941.1	-	5	503	c.234A>G	c.(232-234)gtA>gtG	p.V78V	C3orf33_ENST00000340171.2_Silent_p.V121V	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	78							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGCGAGTTCTACTCCAGCCA	0.408000													4	23					0	0	0.000602214	0	0
CCDC30	728621	broad.mit.edu	37	1	43076720	43076720	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43076720A>G	ENST00000428554.2	+	17	2598	c.1455A>G	c.(1453-1455)gaA>gaG	p.E485E	CCDC30_ENST00000390640.4_Silent_p.E274E|CCDC30_ENST00000342022.4_Silent_p.E485E|CCDC30_ENST00000340612.4_Silent_p.E485E|CCDC30_ENST00000507855.1_Silent_p.E274E			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	485										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CTCTACGTGAAGAATATTTGC	0.358000													23	62					0	0	0.000720815	0	0
SCN2A	6326	broad.mit.edu	37	2	166179830	166179830	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166179830C>T	ENST00000375437.2	+	12	2126	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SCN2A_ENST00000375427.2_Silent_p.F612F|SCN2A_ENST00000357398.3_Silent_p.F612F|SCN2A_ENST00000283256.6_Silent_p.F612F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	612					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTCTCTGTTCGTGCCGCACA	0.557000													21	41					0	0	0.000375601	0	0
HSPG2	3339	broad.mit.edu	37	1	22155968	22155968	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:22155968A>T	ENST00000374695.3	-	87	11979	c.11900T>A	c.(11899-11901)cTg>cAg	p.L3967Q	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3967	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGCTGAACAGCAGGACCCC	0.657000													14	41					0	0	0.000422831	0	0
KCNG4	93107	broad.mit.edu	37	16	84270480	84270480	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:84270480C>T	ENST00000568181.1	-	2	732	c.612G>A	c.(610-612)atG>atA	p.M204I	KCNG4_ENST00000308251.4_Missense_Mutation_p.M204I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCAGCCGGTTCATGCACAGGC	0.682000													16	24					0	0	0.00074312	0	0
SPG7	6687	broad.mit.edu	37	16	89598979	89598979	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:89598979C>T	ENST00000268704.2	+	9	1274	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	SPG7_ENST00000341316.2_Missense_Mutation_p.T420I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	420					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGCTCCACCACCATGTCCGGC	0.632000													27	59					0	0	0.00178596	0	0
BEND3	57673	broad.mit.edu	37	6	107392151	107392151	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:107392151G>A	ENST00000429433.2	-	5	893	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	BEND3_ENST00000369042.1_Missense_Mutation_p.L82F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	82										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCTGCTAGGAGAGCCTGCAAA	0.567000													11	24					0	0	0.000219431	0	0
DAPK3	1613	broad.mit.edu	37	19	3964824	3964824	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3964824G>A	ENST00000545797.2	-	3	471	c.228C>T	c.(226-228)atC>atT	p.I76I	DAPK3_ENST00000301264.3_Silent_p.I76I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	76	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGTGATGATGTTGGGGT	0.617000													20	51					0	0	0.00188189	0	0
KCNA6	3742	broad.mit.edu	37	12	4919931	4919931	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:4919931G>A	ENST00000433855.1	+	1	1590	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCNA6_ENST00000280684.3_Missense_Mutation_p.E242K	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACCCCTGGGGAAATGGGGAC	0.557000										HNSCC(72;0.22)			31	69					0	0	0.000953801	0	0
PLCE1	51196	broad.mit.edu	37	10	96006226	96006226	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96006226G>A	ENST00000260766.3	+	8	3578	c.2944G>A	c.(2944-2946)Gac>Aac	p.D982N	PLCE1_ENST00000371385.3_Missense_Mutation_p.D674N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D982N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D674N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	982					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGACCACAGACAACAGATT	0.453000													15	71					0	0	0.000566183	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398684	47398684	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:47398684G>A	ENST00000310638.4	-	10	1289	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	CYP4A11_ENST00000371904.4_Missense_Mutation_p.H421Y|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H420Y|CYP4A11_ENST00000475477.1_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	420					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTTGGGTTGTGGTGAAGGCCA	0.517000													105	209					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9060131	9060131	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9060131C>T	ENST00000397910.4	-	3	27518	c.27315G>A	c.(27313-27315)ggG>ggA	p.G9105G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9107	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAGTGGGTCCCTGACATAA	0.483000													9	26					0	0	0.000442599	0	0
PON3	5446	broad.mit.edu	37	7	94993217	94993217	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:94993217C>T	ENST00000265627.5	-	6	663	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.G218E	NM_000940.2	NP_000931.1			paraoxonase 3									p.G218E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTACAAAATCCTTTGGCCAC	0.428000													23	128					0	0	0.00178596	0	0
BDNF	627	broad.mit.edu	37	11	27680049	27680049	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:27680049C>T	ENST00000525528.1	-	1	1156	c.63G>A	c.(61-63)atG>atA	p.M21I	BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.M21I|BDNF_ENST00000395980.2_Missense_Mutation_p.M21I|BDNF_ENST00000530861.1_Missense_Mutation_p.M21I|BDNF_ENST00000395981.3_Missense_Mutation_p.M21I|BDNF_ENST00000314915.6_Missense_Mutation_p.M29I|BDNF_ENST00000356660.4_Missense_Mutation_p.M21I|BDNF_ENST00000395986.2_Missense_Mutation_p.M36I|BDNF_ENST00000533131.1_Missense_Mutation_p.M21I|BDNF_ENST00000395983.3_Missense_Mutation_p.M21I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.M21I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.M21I|BDNF_ENST00000533246.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.M103I|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.M21I|BDNF_ENST00000532997.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.M21I|BDNF-AS_ENST00000530686.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	21						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TTGCTTCTTTCATGGGGGCAG	0.522000													26	137					0	0	0.00127121	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766376	171766376	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:171766376G>A	ENST00000311601.5	-	13	1903	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	578					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGGCTCTGGCCTCCTGCT	0.597000													26	134					0	0	0.000491102	0	0
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:131922042C>T	ENST00000286355.5	-	6	3644	c.1552G>A	c.(1552-1554)Ggt>Agt	p.G518S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G518S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	518					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)			CCCAAAACACCGCACAGCACC	0.473000										HNSCC(32;0.087)			13	76					0	0	0.00185496	0	0
CHGB	1114	broad.mit.edu	37	20	5904063	5904063	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:5904063G>A	ENST00000378961.4	+	4	1477	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	425						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGGGGAGGGGAGCCACGTGC	0.527000													23	57					0	0	0.000586117	0	0
BDH1	622	broad.mit.edu	37	3	197238901	197238901	+	Silent	SNP	G	G	A	rs116643903	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:197238901G>A	ENST00000392379.1	-	8	1298	c.897C>T	c.(895-897)atC>atT	p.I299I	BDH1_ENST00000358186.2_Silent_p.I299I|BDH1_ENST00000392378.2_Silent_p.I299I|BDH1_ENST00000441275.1_Silent_p.I212I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	299					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGCATCGATGACAGGGG	0.572000													67	126					0	0	0.000781405	0	0
PHKA1	5255	broad.mit.edu	37	X	71846820	71846820	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:71846820C>T	ENST00000373545.3	-	17	2232		c.e17+1		PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGGTCACTTACCTTGCCCCAC	0.403000													18	30					0	0	0.00074312	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412315	105412315	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105412315G>A	ENST00000333244.5	-	7	9592	c.9473C>T	c.(9472-9474)cCa>cTa	p.P3158L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3158						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGACTTGCCTGGGGCAGACAC	0.587000													71	125					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41711258	41711258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41711258C>T	ENST00000400454.1	-	7	1772	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	432	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAAGGTGTTCCCTTCACGTT	0.522000													4	17					0	0	0.00024832	0	0
DCLK1	9201	broad.mit.edu	37	13	36700082	36700082	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:36700082C>T	ENST00000255448.4	-	2	404	c.193G>A	c.(193-195)Gga>Aga	p.G65R	DCLK1_ENST00000360631.3_Missense_Mutation_p.G65R|DCLK1_ENST00000379892.4_Missense_Mutation_p.G65R	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	65	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.G65R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCGATCTCCGTTTCGATAG	0.557000													11	54					0	0	0.000978159	0	0
NGFR	4804	broad.mit.edu	37	17	47583972	47583972	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47583972G>A	ENST00000172229.3	+	3	645	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E80K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	174					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGAGGACACCGAGCGCCAGCT	0.726000													14	12					0	0	0.00185496	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563620	228563620	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228563620C>T	ENST00000258403.3	-	3	882	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.E267K	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	271					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GAGTAGCACTCCTTCAAATCT	0.468000													16	64					0	0	0.00121646	0	0
NRXN1	9378	broad.mit.edu	37	2	50733674	50733674	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:50733674T>A	ENST00000404971.1	-	14	3915	c.2576A>T	c.(2575-2577)aAa>aTa	p.K859I	NRXN1_ENST00000402717.3_Missense_Mutation_p.K811I|NRXN1_ENST00000401669.2_Missense_Mutation_p.K819I|NRXN1_ENST00000405472.3_Missense_Mutation_p.K811I|NRXN1_ENST00000406316.2_Missense_Mutation_p.K819I|NRXN1_ENST00000406859.3_Missense_Mutation_p.K819I|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	819	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTAAACTTTTTCCACGCCG	0.443000													7	20					0	0	0.00198382	0	0
ASAP3	55616	broad.mit.edu	37	1	23760133	23760133	+	Missense_Mutation	SNP	C	C	T	rs138556791	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:23760133C>T	ENST00000336689.3	-	20	2049	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.E660K|ASAP3_ENST00000495646.1_Missense_Mutation_p.E173K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	669					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						TCCTCACACTCCTTGTGGTGC	0.547000													23	73					0	0	0.000586117	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181661	140181661	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140181661C>T	ENST00000522353.2	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F293F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAAAATTCCATTTAGATC	0.393000													35	119					0	0	0.00222228	0	0
KCND2	3751	broad.mit.edu	37	7	119915781	119915781	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:119915781C>T	ENST00000331113.4	+	1	2060	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	365					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGTATACCATCGTCACCATGA	0.507000													16	59					0	0	0.000958276	0	0
PHKA1	5255	broad.mit.edu	37	X	71925095	71925095	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:71925095C>T	ENST00000373545.3	-	3	676		c.e3-1		PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000541944.1_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCACTACACTCTGCAGAAATA	0.383000													18	37					0	0	0.00229938	0	0
TTLL4	9654	broad.mit.edu	37	2	219617531	219617531	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219617531C>T	ENST00000392102.1	+	17	3362	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	TTLL4_ENST00000258398.4_Missense_Mutation_p.R1008W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R843W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R944W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1008					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGATGATGTTCGGATTCTGGT	0.478000													27	100					0	0	0.00209593	0	0
EDA2R	60401	broad.mit.edu	37	X	65819657	65819657	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:65819657G>A	ENST00000374719.3	-	6	619	c.563C>T	c.(562-564)tCt>tTt	p.S188F	EDA2R_ENST00000451436.2_Missense_Mutation_p.S64F|EDA2R_ENST00000450752.1_Missense_Mutation_p.S209F|EDA2R_ENST00000396050.1_Missense_Mutation_p.S188F|EDA2R_ENST00000456230.2_Missense_Mutation_p.S188F|EDA2R_ENST00000253392.5_Missense_Mutation_p.S209F	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	188					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGAAGAGAGATTCCTCCTT	0.532000													5	6					0	0	0.00116845	0	0
NOC3L	64318	broad.mit.edu	37	10	96097619	96097619	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96097619G>A	ENST00000371361.3	-	19	2204	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	NOC3L_ENST00000543788.1_Missense_Mutation_p.P440S|NOC3L_ENST00000371350.1_Missense_Mutation_p.P702S	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	702						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGCACTATGGGATGATAATGC	0.433000													15	67					0	0	0.000958276	0	0
OR10G8	219869	broad.mit.edu	37	11	123901117	123901117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:123901117C>T	ENST00000431524.1	+	1	821	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGCCAGGCTCCAGGAAAGCT	0.532000													23	38					0	0	0.000375601	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:80583473C>T	ENST00000305904.6	+	3	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.R87C|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000													19	31					0	0	0.000958276	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709181	38709181	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:38709181G>A	ENST00000417039.1	-	0	696																											TGATGCGCAAGGCCATCCGAG	0.572000													6	47					0	0	0.00198382	0	0
ADCK3	56997	broad.mit.edu	37	1	227152760	227152760	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:227152760C>T	ENST00000366779.1	+	8	3008	c.237C>T	c.(235-237)ttC>ttT	p.F79F	ADCK3_ENST00000366777.3_Silent_p.F79F|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366778.1_Silent_p.F27F|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	79					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AAGGGGAGTTCCACTTCTCAG	0.592000													33	77					0	0	0.000953801	0	0
C22orf31	25770	broad.mit.edu	37	22	29455002	29455002	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:29455002C>T	ENST00000216071.4	-	3	652	c.601G>A	c.(601-603)Gac>Aac	p.D201N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	201										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GTTAGCGTGTCCTCCGACAAC	0.592000													37	109					0	0	0.00128727	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524006	24524006	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:24524006C>T	ENST00000376862.3	+	2	906	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	91					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGCCCAACATCATCCTCTATT	0.657000													18	59					0	0	0.00074312	0	0
PTPRT	11122	broad.mit.edu	37	20	40748582	40748582	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:40748582C>T	ENST00000373198.3	-	21	3178	c.2943G>A	c.(2941-2943)gcG>gcA	p.A981A	PTPRT_ENST00000373190.1_Silent_p.A958A|PTPRT_ENST00000373184.1_Silent_p.A949A|PTPRT_ENST00000373187.1_Silent_p.A959A|PTPRT_ENST00000373201.1_Silent_p.A949A|PTPRT_ENST00000373193.3_Silent_p.A962A|PTPRT_ENST00000356100.2_Silent_p.A968A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	959	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACCTTGAGTCGCAATGTAGT	0.507000													28	93					0	0	0.0024448	0	0
HCN1	348980	broad.mit.edu	37	5	45262164	45262164	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:45262164C>T	ENST00000303230.4	-	8	2589	c.2532G>A	c.(2530-2532)caG>caA	p.Q844Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	844						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						CCGACGACATCTGTCGGAAGA	0.652000													14	56					0	0	0.000308642	0	0
OR2M4	26245	broad.mit.edu	37	1	248402872	248402872	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248402872C>T	ENST00000306687.1	+	1	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I214I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCAGTTATCATACTTTCCT	0.473000													18	28					0	0	0.00121646	0	0
AASS	10157	broad.mit.edu	37	7	121753694	121753694	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:121753694G>A	ENST00000393376.1	-	9	1219	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	AASS_ENST00000417368.2_Missense_Mutation_p.P375L|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	375	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CATGCAAAAGGGATGCTCTAT	0.368000													26	40					0	0	0.000720815	0	0
BEST3	144453	broad.mit.edu	37	12	70066703	70066703	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:70066703C>T	ENST00000330891.5	-	8	1136	c.910G>A	c.(910-912)Gat>Aat	p.D304N	BEST3_ENST00000476098.1_Missense_Mutation_p.D91N|BEST3_ENST00000488961.1_Missense_Mutation_p.D91N|BEST3_ENST00000331471.4_Missense_Mutation_p.D304N|BEST3_ENST00000553096.1_Missense_Mutation_p.D198N	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	304						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTTCAAAATCATCATCATCT	0.323000													10	26					0	0	0.00185496	0	0
MACF1	23499	broad.mit.edu	37	1	39908123	39908123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39908123C>T	ENST00000564288.1	+	77	19765	c.18988C>T	c.(18988-18990)Cag>Tag	p.Q6330*	MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q4773*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q6229*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q4141*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q4271*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q6367*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6338					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTCAGTTCCAGCATGCCTT	0.438000													25	92					0	0	0.000720815	0	0
TG	7038	broad.mit.edu	37	8	134146969	134146969	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:134146969G>A	ENST00000220616.4	+	48	8278	c.8238G>A	c.(8236-8238)acG>acA	p.T2746T	TG_ENST00000519543.1_Silent_p.T879T|TG_ENST00000377869.1_Silent_p.T2689T|TG_ENST00000542445.1_Silent_p.T1116T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2746					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAGTTGACGGCTGGATCTG	0.552000													5	28					0	0	0.000602214	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061706	103061706	+	Silent	SNP	C	C	T	rs141693630		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103061706C>T	ENST00000264260.2	+	9	1567	c.978C>T	c.(976-978)gtC>gtT	p.V326V	IL18RAP_ENST00000409369.1_Silent_p.V184V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	326	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGAAAAAGTCACTCAGCGTG	0.393000													30	66					0	0	0.00209593	0	0
LYZL4	131375	broad.mit.edu	37	3	42448635	42448635	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:42448635C>T	ENST00000287748.3	-	2	384	c.109G>A	c.(109-111)Gat>Aat	p.D37N	LYZL4_ENST00000441172.1_Missense_Mutation_p.D37N|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	37					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCAAAATAATCCAGGCCTCCA	0.552000													13	63					0	0	0.00185496	0	0
CMYA5	202333	broad.mit.edu	37	5	79030637	79030637	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:79030637G>A	ENST00000446378.2	+	2	6080	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2017						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATGGAGAGTGAAAGTTTGCT	0.408000													5	17					0	0	0.00116845	0	0
TRHR	7201	broad.mit.edu	37	8	110100421	110100421	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:110100421C>T	ENST00000518632.1	+	2	1031	c.680C>T	c.(679-681)cCt>cTt	p.P227L	TRHR_ENST00000311762.2_Missense_Mutation_p.P227L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	227						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCTTCAGATCCTAAAGAAAAC	0.368000													6	42					0	0	0.00116845	0	0
SCN5A	6331	broad.mit.edu	37	3	38622542	38622542	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38622542C>T	ENST00000413689.1	-	17	3301	c.3108G>A	c.(3106-3108)caG>caA	p.Q1036Q	SCN5A_ENST00000423572.2_Silent_p.Q1036Q|SCN5A_ENST00000451551.2_Silent_p.Q1036Q|SCN5A_ENST00000449557.2_Silent_p.Q1036Q|SCN5A_ENST00000450102.2_Silent_p.Q1036Q|SCN5A_ENST00000443581.1_Silent_p.Q1036Q|SCN5A_ENST00000333535.4_Silent_p.Q1036Q|SCN5A_ENST00000425664.1_Silent_p.Q1036Q|SCN5A_ENST00000455624.2_Silent_p.Q1036Q|SCN5A_ENST00000414099.2_Silent_p.Q1036Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1036					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGGGGTGCCCTGGCCTGGTT	0.642000													18	43					0	0	0.000958276	0	0
ISM1	140862	broad.mit.edu	37	20	13251208	13251208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:13251208G>A	ENST00000262487.3	+	2	202	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	66						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCTCTCCAAAGAAGCACCAAG	0.493000													8	27					0	0	0.000673444	0	0
CCDC129	223075	broad.mit.edu	37	7	31690788	31690788	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:31690788G>A	ENST00000319386.3	+	12	3165	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	CCDC129_ENST00000451887.2_Silent_p.T898T|CCDC129_ENST00000409210.1_Silent_p.T780T|CCDC129_ENST00000407970.3_Silent_p.T872T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	872										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCATGAAGACGATATGCCAAA	0.468000													8	70					0	0	0.000442599	0	0
DUSP27	92235	broad.mit.edu	37	1	167095812	167095812	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167095812G>A	ENST00000361200.2	+	6	1610	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E482K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E482K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	482					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCATGGAACGAGAGGCTGCT	0.647000													14	27					0	0	0.000219431	0	0
ACTG2	72	broad.mit.edu	37	2	74136191	74136191	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:74136191G>A	ENST00000409624.1	+	6	1019	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ACTG2_ENST00000345517.3_Missense_Mutation_p.E126K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E83K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	126					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GATCATGTTTGAAACCTTCAA	0.438000													36	81					0	0	0.00222228	0	0
TSHR	7253	broad.mit.edu	37	14	81606187	81606187	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:81606187T>A	ENST00000541158.2	+	10	1179	c.857T>A	c.(856-858)tTt>tAt	p.F286Y	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.F286Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	286					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGCTGTGCTTTTAAGAATCAG	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	35					0	0	0.000442599	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29451033	29451033	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:29451033C>T	ENST00000283351.4	-	15	2448	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E651K	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	705					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGAGGATTCAGAATCATAT	0.358000													8	23					0	0	0.000673444	0	0
PRR14L	253143	broad.mit.edu	37	22	32108135	32108135	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32108135G>A	ENST00000327423.6	-	4	5879	c.5690C>T	c.(5689-5691)tCc>tTc	p.S1897F	PRR14L_ENST00000397493.2_Missense_Mutation_p.S1897F|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1897F	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1897										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GATTTCGAAGGAGCAGACAGA	0.527000													24	87					0	0	0.00047179	0	0
CUBN	8029	broad.mit.edu	37	10	17113553	17113553	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:17113553G>A	ENST00000377833.4	-	19	2562	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	833	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P833S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACACGTTAGGAAAAAAAGGC	0.418000													5	48					0	0	0.000157383	0	0
LONRF3	79836	broad.mit.edu	37	X	118151570	118151570	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:118151570C>T	ENST00000365713.2	+	10	2237	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	LONRF3_ENST00000371628.3_Missense_Mutation_p.P733S|LONRF3_ENST00000422289.2_Missense_Mutation_p.P477S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.P692S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTCAGCTCCCCTTCCTAGC	0.507000													11	23					0	0	0.000673444	0	0
ZNF264	9422	broad.mit.edu	37	19	57723875	57723875	+	Silent	SNP	C	C	T	rs139384482		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:57723875C>T	ENST00000263095.6	+	4	1824	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	ZNF264_ENST00000536056.1_Silent_p.L470L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGAAGGACCTCATTCGCCACT	0.537000													9	20					0	0	0.000442599	0	0
STYK1	55359	broad.mit.edu	37	12	10775235	10775235	+	Splice_Site	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:10775235A>C	ENST00000075503.3	-	9	1488		c.e9+1			NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1							integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GCTCATCCTTACCTAGAGTCA	0.388000										HNSCC(73;0.22)			21	37					0	0	0.00047179	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526055	68526055	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:68526055C>T	ENST00000433211.1	-	9	1422	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.A416A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATGAAATATCGCAGCATATT	0.433000													16	78					0	0	0.000566183	0	0
TEKT2	27285	broad.mit.edu	37	1	36552870	36552870	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36552870G>A	ENST00000207457.3	+	7	940	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	271					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTGCGGGAGATGGAGAAAG	0.557000													13	63					0	0	0.000219431	0	0
SYNE2	23224	broad.mit.edu	37	14	64537419	64537419	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:64537419C>T	ENST00000358025.3	+	52	10718	c.10488C>T	c.(10486-10488)tcC>tcT	p.S3496S	SYNE2_ENST00000344113.4_Silent_p.S3496S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S3529S|SYNE2_ENST00000555002.1_Silent_p.S130S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3496					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGAAATTTCCAAAACAAAAG	0.368000													5	35					0	0	0.00116845	0	0
MIER2	54531	broad.mit.edu	37	19	307313	307313	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:307313G>A	ENST00000264819.4	-	13	1432	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCAGGGCGAAGTCCACGG	0.687000													10	17					0	0	0.00136819	0	0
KIAA1324	57535	broad.mit.edu	37	1	109745579	109745579	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:109745579G>A	ENST00000369939.3	+	22	3170	c.2987G>A	c.(2986-2988)gGa>gAa	p.G996E	KIAA1324_ENST00000529753.1_Missense_Mutation_p.G909E|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	996					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACTCCTGATGGATTTGACTCA	0.542000													122	195					0	0	0.000781405	0	0
HGFAC	3083	broad.mit.edu	37	4	3445868	3445868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:3445868C>T	ENST00000382774.3	+	5	693	c.578C>T	c.(577-579)aCc>aTc	p.T193I	HGFAC_ENST00000511533.1_Missense_Mutation_p.T193I	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	193	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGGGCCTTCACCGGCAAGGAC	0.692000													4	6					0	0	0.00024832	0	0
KXD1	79036	broad.mit.edu	37	19	18675783	18675783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18675783C>T	ENST00000602094.1	+	3	1666	c.206C>T	c.(205-207)aCc>aTc	p.T69I	KXD1_ENST00000595073.1_Missense_Mutation_p.T69I|KXD1_ENST00000222307.4_Missense_Mutation_p.T69I|KXD1_ENST00000598830.1_Missense_Mutation_p.T69I|KXD1_ENST00000601630.1_Missense_Mutation_p.T69I|KXD1_ENST00000599000.1_Missense_Mutation_p.T69I|KXD1_ENST00000539106.1_Missense_Mutation_p.T69I|KXD1_ENST00000599319.1_Missense_Mutation_p.T69I|KXD1_ENST00000540691.1_Missense_Mutation_p.T69I			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	69							protein binding										CACACGAGGACCCTAGTAGAG	0.592000													40	165					0	0	0.000509022	0	0
GALNT16	57452	broad.mit.edu	37	14	69787435	69787435	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:69787435G>A	ENST00000337827.4	+	2	512	c.185G>A	c.(184-186)gGa>gAa	p.G62E	GALNT16_ENST00000448469.3_Missense_Mutation_p.G62E|GALNT16_ENST00000553669.1_Missense_Mutation_p.G62E	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CAGGTGACAGGAACTCCCTCG	0.607000													13	96					0	0	0.00074312	0	0
HSPA2	3306	broad.mit.edu	37	14	65008167	65008167	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:65008167C>T	ENST00000247207.6	+	1	982	c.600C>T	c.(598-600)atC>atT	p.I200I	HSPA2_ENST00000394709.1_Silent_p.I200I|HSPA2_ENST00000554883.1_3'UTR	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	200					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGTGCTCATCTTTGACCTGG	0.647000													37	139					0	0	0.00195071	0	0
MACF1	23499	broad.mit.edu	37	1	39905145	39905145	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:39905145C>T	ENST00000564288.1	+	72	19197	c.18420C>T	c.(18418-18420)atC>atT	p.I6140I	MACF1_ENST00000545844.1_Silent_p.I4081I|MACF1_ENST00000289893.4_Silent_p.I4583I|MACF1_ENST00000361689.2_Silent_p.I4081I|MACF1_ENST00000372915.3_Silent_p.I6039I|MACF1_ENST00000539005.1_Silent_p.I3951I|MACF1_ENST00000317713.7_Silent_p.I4081I|MACF1_ENST00000567887.1_Silent_p.I6177I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6148					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCTTCCATCATCAAACAAC	0.438000													32	117					0	0	0.00058488	0	0
OR4C12	283093	broad.mit.edu	37	11	50004008	50004008	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:50004008G>A	ENST00000335238.4	-	1	63	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTATTAAAATGAATTCAGTCA	0.343000													10	35					0	0	0.00136819	0	0
MAPK13	5603	broad.mit.edu	37	6	36106805	36106805	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:36106805G>A	ENST00000211287.4	+	11	1253	c.991G>A	c.(991-993)Gag>Aag	p.E331K	MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E321K|MAPK13_ENST00000373766.5_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	331					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTTAGAACACGAGAAACTCAC	0.597000													20	29					0	0	0.00188189	0	0
PRAM1	84106	broad.mit.edu	37	19	8564018	8564018	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8564018G>A	ENST00000423345.4	-	2	1194	c.674C>T	c.(673-675)cCc>cTc	p.P225L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P225L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	273	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGCTTTTTGGGGTACACGTT	0.637000													18	65					0	0	0.000375601	0	0
OR5P3	120066	broad.mit.edu	37	11	7847163	7847163	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:7847163G>A	ENST00000328375.1	-	1	356	c.357C>T	c.(355-357)gcC>gcT	p.A119A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCGATCATAGGCCATGGCAG	0.552000													22	64					0	0	0.00188189	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844816	92844816	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:92844816G>A	ENST00000394468.2	-	3	690	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H193Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H228Y|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H193Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	205	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGAGCAATATGAAGGGTATTG	0.468000													21	26					0	0	0.000586117	0	0
TRABD	80305	broad.mit.edu	37	22	50632027	50632027	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50632027C>T	ENST00000303434.4	+	3	175	c.56C>T	c.(55-57)cCg>cTg	p.P19L	TRABD_ENST00000395827.1_Missense_Mutation_p.P19L|TRABD_ENST00000395829.1_Missense_Mutation_p.P19L|TRABD_ENST00000380909.4_Missense_Mutation_p.P19L	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	19										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CCTGTTGTGCCGTCAGAGGCT	0.622000													27	74					0	0	0.000491102	0	0
MMP7	4316	broad.mit.edu	37	11	102395720	102395720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:102395720C>T	ENST00000260227.4	-	4	612	c.560G>A	c.(559-561)gGa>gAa	p.G187E		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	187					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		AGCATCTCCTCCGAGACCTGT	0.502000													23	46					0	0	0.000375601	0	0
FAT4	79633	broad.mit.edu	37	4	126336274	126336274	+	Silent	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126336274T>G	ENST00000394329.3	+	5	6169	c.6156T>G	c.(6154-6156)ctT>ctG	p.L2052L	FAT4_ENST00000335110.5_Silent_p.L350L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2052	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGACATTTCTTTCCCCTAAAT	0.413000													10	83					0	0	0.000673444	0	0
FBXO15	201456	broad.mit.edu	37	18	71797839	71797839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:71797839C>T	ENST00000269500.5	-	4	494	c.159G>A	c.(157-159)tgG>tgA	p.W53*	FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W129*	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	53										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AATTAAATTTCCAATTTGATC	0.348000													5	45					0	0	0.000602214	0	0
SLC13A3	64849	broad.mit.edu	37	20	45239155	45239155	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:45239155G>A	ENST00000279027.4	-	3	489	c.471C>T	c.(469-471)gcC>gcT	p.A157A	SLC13A3_ENST00000396360.1_Silent_p.A110A|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Silent_p.A110A|SLC13A3_ENST00000495082.1_Silent_p.A110A|SLC13A3_ENST00000290317.5_Silent_p.A110A|SLC13A3_ENST00000372121.1_Silent_p.A157A|SLC13A3_ENST00000413164.2_Silent_p.A157A|SLC13A3_ENST00000339636.3_Silent_p.A157A|SLC13A3_ENST00000417157.2_Silent_p.A110A	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	157						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTTTCAGGATGGCATTGGCAA	0.552000													50	142					0	0	0.000781405	0	0
PRSS38	339501	broad.mit.edu	37	1	228003501	228003501	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228003501C>T	ENST00000366757.3	+	1	108	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	28					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCCCTCCCCGGGTCGCAG	0.697000													5	27					0	0	0.00116845	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454939	187454939	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:187454939G>A	ENST00000307161.5	-	2	1158	c.957C>T	c.(955-957)ttC>ttT	p.F319F	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	319					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTCCACAAAGAACACCCTGG	0.438000													18	93					0	0	0.000958276	0	0
ANKRD28	23243	broad.mit.edu	37	3	15717478	15717478	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:15717478G>A	ENST00000399451.2	-	27	3169	c.2802C>T	c.(2800-2802)gcC>gcT	p.A934A	ANKRD28_ENST00000383777.1_Silent_p.A967A|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	934						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCCCATTTCGGGCAGCAACAT	0.433000													21	51					0	0	0.00047179	0	0
EIF2D	1939	broad.mit.edu	37	1	206767083	206767083	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206767083G>A	ENST00000271764.2	-	14	1777	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	EIF2D_ENST00000472709.2_Intron|EIF2D_ENST00000367114.3_Silent_p.I399I	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	523	SUI1.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTGCTGAAGGATGGCAGCCA	0.627000													11	29					0	0	0.000673444	0	0
DSG4	147409	broad.mit.edu	37	18	28992824	28992824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28992824C>T	ENST00000359747.4	+	15	2475	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.R797*	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	797					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGATGAAGGTCGACCAGCCAA	0.398000													19	60					0	0	0.00229938	0	0
EMB	133418	broad.mit.edu	37	5	49699234	49699234	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:49699234C>T	ENST00000303221.5	-	6	870	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	EMB_ENST00000508934.1_Missense_Mutation_p.E165K|EMB_ENST00000514111.1_Missense_Mutation_p.E169K|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	219	Ig-like V-type 2.					integral to membrane		p.E219K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGCTTTGTTTCGTTAGCATAT	0.378000													5	18					0	0	0.000602214	0	0
FAT4	79633	broad.mit.edu	37	4	126411402	126411402	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:126411402G>A	ENST00000394329.3	+	17	13438	c.13425G>A	c.(13423-13425)caG>caA	p.Q4475Q	FAT4_ENST00000335110.5_Silent_p.Q2716Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4475					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K4420fs*15(1)|p.K4477fs*15(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTCCTCAGGGGAAGGTGT	0.612000													17	67					0	0	0.00121646	0	0
CYTH2	9266	broad.mit.edu	37	19	48981785	48981785	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:48981785C>T	ENST00000427476.1	+	11	1351	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	CYTH2_ENST00000452733.2_Missense_Mutation_p.H350Y	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	351	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGGGAAACCACATGGTGTA	0.592000													18	41					0	0	0.00121646	0	0
MBD5	55777	broad.mit.edu	37	2	149247097	149247097	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:149247097C>T	ENST00000407073.1	+	12	4194	c.3197C>T	c.(3196-3198)tCt>tTt	p.S1066F	MBD5_ENST00000404807.1_Missense_Mutation_p.S1299F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1066						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTGACCCATCTCTTGGTCAA	0.512000													16	55					0	0	0.00152264	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139645	5139645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5139645G>A	ENST00000380554.3	+	3	924	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R68Q|AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	91					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACTTTTCATCGACCAGAGTTG	0.393000													28	72					0	0	0.000692331	0	0
PSD4	23550	broad.mit.edu	37	2	113956440	113956440	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:113956440G>A	ENST00000245796.6	+	15	2943	c.2748G>A	c.(2746-2748)gtG>gtA	p.V916V	PSD4_ENST00000441564.2_Silent_p.V887V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	916					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGCCCGTGGGCCCCGCCC	0.721000													4	11					0	0	0.00024832	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:54805208G>A	ENST00000306858.7	+	5	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	480										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAACAACGAATGCCAACC	0.413000													23	32					0	0	0.000720815	0	0
POP1	10940	broad.mit.edu	37	8	99146758	99146758	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:99146758T>C	ENST00000401707.2	+	7	963	c.882T>C	c.(880-882)ctT>ctC	p.L294L	POP1_ENST00000349693.3_Silent_p.L294L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	294					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCTTGTGCTTTATCGGGTGA	0.502000													16	58					0	0	0.00121646	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025377	102025377	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102025377C>A	ENST00000549145.1	+	6	382	c.282C>A	c.(280-282)gtC>gtA	p.V94V	MYBPC1_ENST00000547509.1_Silent_p.V67V|MYBPC1_ENST00000536007.1_Silent_p.V81V|MYBPC1_ENST00000550270.1_Silent_p.V81V|MYBPC1_ENST00000392934.3_Silent_p.V68V|MYBPC1_ENST00000541119.1_Silent_p.V69V|MYBPC1_ENST00000361685.2_Silent_p.V106V|MYBPC1_ENST00000452455.2_Silent_p.V81V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.V81V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000553190.1_Silent_p.V81V|MYBPC1_ENST00000547405.1_Silent_p.V55V|MYBPC1_ENST00000545503.2_Silent_p.V81V|MYBPC1_ENST00000360610.2_Silent_p.V81V|MYBPC1_ENST00000361466.2_Silent_p.V106V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	81	Ig-like C2-type 1.			KWFKG -> NGSR (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAGCCAAAGTCAAGGCTGAAG	0.438000													53	69					2.69953e-25	1.21328e-24	0.000781405	1	0
OR7E24	26648	broad.mit.edu	37	19	9362159	9362159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9362159C>T	ENST00000456448.1	+	1	554	c.440C>T	c.(439-441)cCc>cTc	p.P147L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATCTGTCACCCCCTGCACTAC	0.453000													16	73					0	0	0.000422831	0	0
ABCD4	5826	broad.mit.edu	37	14	74759884	74759884	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:74759884G>A	ENST00000356924.4	-	8	930	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	ABCD4_ENST00000298816.7_Silent_p.L159L|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	263	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TTGGACATCAGCTCCCTCTGG	0.602000													9	83					0	0	0.000978159	0	0
AMER3	205147	broad.mit.edu	37	2	131520353	131520353	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:131520353G>A	ENST00000423981.1	+	2	818	c.708G>A	c.(706-708)gaG>gaA	p.E236E	AMER3_ENST00000321420.4_Silent_p.E236E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCCTGTGTGAGGACGTGGCCT	0.667000													23	121					0	0	0.000878237	0	0
CAPN13	92291	broad.mit.edu	37	2	30966436	30966436	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:30966436C>T	ENST00000295055.8	-	13	1434	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E420K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	420					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGAAATTTCTCCCGGAACCGC	0.478000													10	29					0	0	0.000978159	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409391	33409391	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:33409391C>T	ENST00000418600.2	+	13	2250	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L658F|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L717F	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	717					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACTGCCCCGGCTCCTCAACGA	0.652000													9	25					0	0	0.000673444	0	0
CSPG4	1464	broad.mit.edu	37	15	75977176	75977176	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:75977176G>A	ENST00000308508.5	-	5	4442	c.4350C>T	c.(4348-4350)gcC>gcT	p.A1450A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1450	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCATCTCGGAGGCATTAGCCA	0.592000													13	61					0	0	0.000219431	0	0
AOC1	26	broad.mit.edu	37	7	150558157	150558157	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150558157C>T	ENST00000493429.1	+	7	2700	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S	AOC1_ENST00000467291.1_Missense_Mutation_p.P706S|AOC1_ENST00000360937.4_Missense_Mutation_p.P706S|AOC1_ENST00000416793.2_Missense_Mutation_p.P725S|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		CCCAGAGGACCCCTCCCTGGC	0.617000													7	37					0	0	0.000442599	0	0
SIRPG	55423	broad.mit.edu	37	20	1629872	1629872	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:1629872G>A	ENST00000381580.1	-	2	336	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	SIRPG_ENST00000344103.4_Missense_Mutation_p.P86S|SIRPG_ENST00000216927.4_Missense_Mutation_p.P86S|SIRPG_ENST00000381583.2_Missense_Mutation_p.P86S|SIRPG_ENST00000303415.3_Missense_Mutation_p.P86S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	86	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTTACCCTGGGGAAGTGGCCT	0.517000													30	71					0	0	0.00209593	0	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365					microtubule cytoskeleton organization	microtubule		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000													32	61					0	0	0.00128727	0	0
ROBO2	6092	broad.mit.edu	37	3	77607227	77607227	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:77607227G>A	ENST00000461745.1	+	9	2264	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ROBO2_ENST00000487694.3_Missense_Mutation_p.G471E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G455E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	455	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTAAAGGAGGGATTTACTTTT	0.443000													7	26					0	0	0.000274275	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489175	150489175	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150489175C>T	ENST00000447204.2	-	6	1061	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	TMEM176B_ENST00000429904.2_Missense_Mutation_p.R230Q|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R230Q|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R230Q|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R193Q	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	230					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.R230Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAAGTTTCGAAGACCTAC	0.567000													6	37					0	0	0.00198382	0	0
PPEF2	5470	broad.mit.edu	37	4	76804159	76804159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:76804159C>T	ENST00000286719.7	-	10	1209	c.853G>A	c.(853-855)Gat>Aat	p.D285N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	285	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTTTCTCATCTATCAGAGTG	0.388000													15	59					0	0	0.000219431	0	0
AP3B2	8120	broad.mit.edu	37	15	83346056	83346056	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:83346056T>C	ENST00000261722.3	-	13	1665	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.K486K|AP3B2_ENST00000535348.1_Silent_p.K454K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	486					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGCCAAGTGTTTGATGATCT	0.438000													8	31					0	0	0.000673444	0	0
EXD1	161829	broad.mit.edu	37	15	41509322	41509322	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41509322G>A	ENST00000314992.5	-	2	249	c.59C>T	c.(58-60)tCa>tTa	p.S20L	EXD1_ENST00000559743.1_5'UTR|EXD1_ENST00000458580.2_Missense_Mutation_p.S78L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	20					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGCTCTCACTGAGCCTTGTTC	0.358000													16	39					0	0	0.000958276	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758579	121758579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:121758579G>A	ENST00000261367.7	+	6	1716	c.288G>A	c.(286-288)tgG>tgA	p.W96*	SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Nonsense_Mutation_p.W96*			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	49					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.W96*(2)|p.W49*(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCTCTAGCTGGAATTGTGGCA	0.413000													7	39					0	0	0.000274275	0	0
AFF3	3899	broad.mit.edu	37	2	100185362	100185362	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:100185362A>T	ENST00000317233.4	-	18	3169	c.2934T>A	c.(2932-2934)gaT>gaA	p.D978E	AFF3_ENST00000356421.2_Missense_Mutation_p.D1003E|AFF3_ENST00000409579.1_Missense_Mutation_p.D1003E|AFF3_ENST00000409236.1_Missense_Mutation_p.D978E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	978					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCATAAAATAATCGGCACTGC	0.373000													34	118					0	0	0.000491102	0	0
CACNA1S	779	broad.mit.edu	37	1	201012548	201012548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:201012548C>T	ENST00000362061.3	-	40	5135	c.4909G>A	c.(4909-4911)Gag>Aag	p.E1637K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1618K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1637					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTCCATCTCTTCCATCTCT	0.557000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	47					0	0	0.000566183	0	0
NETO1	81832	broad.mit.edu	37	18	70461626	70461626	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:70461626C>T	ENST00000327305.6	-	5	1140	c.483G>A	c.(481-483)aaG>aaA	p.K161K	NETO1_ENST00000299430.2_Silent_p.K160K|NETO1_ENST00000583169.1_Silent_p.K161K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	161					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCAAGGTCCTTAAAGTCAG	0.294000													11	145					0	0	0.000978159	0	0
MTF1	4520	broad.mit.edu	37	1	38288307	38288307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:38288307G>A	ENST00000373036.4	-	9	1393	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	418						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGAAGAGATAAAGATGC	0.517000													21	116					0	0	0.000586117	0	0
CAPN6	827	broad.mit.edu	37	X	110489951	110489951	+	Missense_Mutation	SNP	C	C	T	rs138687868		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:110489951C>T	ENST00000324068.1	-	13	1947	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	CAPN6_ENST00000541758.1_Missense_Mutation_p.G339R	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	594	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTAACCTGCCCCAAGAACTGA	0.527000													10	12					0	0	0.000673444	0	0
VAMP7	6845	broad.mit.edu	37	X	155169448	155169448	+	Missense_Mutation	SNP	C	C	T	rs138653672		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:155169448C>T	ENST00000262640.6	+	6	600	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	VAMP7_ENST00000286448.6_Silent_p.I195I|VAMP7_ENST00000460621.1_Silent_p.I154I|VAMP7_ENST00000479687.1_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATCATCATCGTATCAATTG	0.348000													19	138					0	0	0.00229938	0	0
MGME1	92667	broad.mit.edu	37	20	17950806	17950806	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:17950806C>T	ENST00000377710.5	+	2	592	c.304C>T	c.(304-306)Cct>Tct	p.P102S	MGME1_ENST00000377709.1_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Missense_Mutation_p.P102S	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		AAACTGGTTTCCTATCTTCAA	0.488000													30	96					0	0	0.00127121	0	0
SCN11A	11280	broad.mit.edu	37	3	38888697	38888697	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38888697C>T	ENST00000302328.3	-	26	5062	c.4864G>A	c.(4864-4866)Gac>Aac	p.D1622N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1584N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1622N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1622					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCAAAGTCATCTTCACCC	0.388000													27	92					0	0	0.0024448	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612670	96612670	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96612670G>A	ENST00000371321.3	+	9	1554	c.1472G>A	c.(1471-1473)tGa>tAa	p.*491*	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	0					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTCCTGTCTGAAGAAGCACA	0.493000													17	58					0	0	0.000958276	0	0
USP6	9098	broad.mit.edu	37	17	5071275	5071275	+	Missense_Mutation	SNP	G	G	A	rs149187210		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:5071275G>A	ENST00000574788.1	+	34	5315	c.3085G>A	c.(3085-3087)Gag>Aag	p.E1029K	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.E1029K|USP6_ENST00000304328.5_Missense_Mutation_p.E712K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1029					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCGCAAGCCGAGCCCATCAA	0.522000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								26	31					0	0	0.000878237	0	0
TMEM214	54867	broad.mit.edu	37	2	27257005	27257005	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27257005G>A	ENST00000238788.9	+	2	284	c.222G>A	c.(220-222)gaG>gaA	p.E74E	TMEM214_ENST00000404032.3_Silent_p.E74E	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	74						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGAATAAGGAGCAGGTCCCAC	0.537000													19	71					0	0	0.00121646	0	0
C10orf120	399814	broad.mit.edu	37	10	124457679	124457679	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124457679G>A	ENST00000329446.4	-	3	609	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	193										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AGACAGAAATGAGGAGCGTGT	0.483000													18	67					0	0	0.000566183	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717613	139717613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:139717613C>T	ENST00000263552.6	+	16	2048	c.1510C>T	c.(1510-1512)Caa>Taa	p.Q504*	TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.Q436*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.Q549*|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.Q503*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.Q504*|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.Q503*|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.Q550*	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	503					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GTTCCGGTTCCAAGCCTGCCC	0.687000													29	73					0	0	0.00058488	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223941	142223941	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142223941C>T	ENST00000390367.3	-	0	242																											AACTGTGAATCATCTACTACA	0.512000													7	40					0	0	0.000157383	0	0
ACIN1	22985	broad.mit.edu	37	14	23549555	23549555	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23549555G>A	ENST00000262710.1	-	6	1490	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ACIN1_ENST00000605057.1_Missense_Mutation_p.S330F|ACIN1_ENST00000457657.1_Missense_Mutation_p.S348F|ACIN1_ENST00000555053.1_Missense_Mutation_p.S388F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	388	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGAGGAGGGGAAGGAGACTT	0.473000													10	41					0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21228894	21228894	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:21228894G>A	ENST00000233242.1	-	26	10973	c.10846C>T	c.(10846-10848)Ctt>Ttt	p.L3616F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3616					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTGGCCAAGGTCAGGGAAA	0.493000													37	178					0	0	0.00111076	0	0
HOOK3	84376	broad.mit.edu	37	8	42829284	42829284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:42829284C>T	ENST00000307602.4	+	13	1468	c.1268C>T	c.(1267-1269)aCc>aTc	p.T423I		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	423					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTGAAGGAAACCATTGAAGAG	0.408000			T	RET	papillary thyroid								65	186					0	0	0.000781405	0	0
SCP2	6342	broad.mit.edu	37	1	53480614	53480614	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:53480614G>A	ENST00000371514.3	+	12	1302	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	SCP2_ENST00000371509.4_Silent_p.K334K|SCP2_ENST00000430330.2_5'UTR|SCP2_ENST00000407246.2_Silent_p.K354K|SCP2_ENST00000408941.3_5'UTR|SCP2_ENST00000528311.1_Silent_p.K297K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	378					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						AAGCCGGAAAGAGGCAAGTTC	0.522000													18	62					0	0	0.00074312	0	0
COL6A6	131873	broad.mit.edu	37	3	130312062	130312062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130312062G>A	ENST00000358511.6	+	16	4467	c.4436G>A	c.(4435-4437)gGa>gAa	p.G1479E	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1479E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1479	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTCTTCCTGGAAGAAAAGGA	0.378000													21	43					0	0	0.00229938	0	0
MYO1A	4640	broad.mit.edu	37	12	57435264	57435264	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:57435264C>T	ENST00000442789.2	-	14	1403	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	MYO1A_ENST00000544473.1_Silent_p.K210K|MYO1A_ENST00000300119.3_Silent_p.K372K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	372	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTACCTTCTTCTTTTCCCCGA	0.537000													26	50					0	0	0.00127121	0	0
ITIH1	3697	broad.mit.edu	37	3	52823770	52823770	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52823770G>A	ENST00000273283.2	+	19	2245	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	ITIH1_ENST00000405128.3_Missense_Mutation_p.D107N|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Missense_Mutation_p.D453N|ITIH1_ENST00000540715.1_Missense_Mutation_p.D599N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	741	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCCTGCCACGGACTTTCAGTT	0.592000													35	113					0	0	0.000692331	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47076520	47076520	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:47076520C>A	ENST00000290341.3	+	2	559	c.225C>A	c.(223-225)ccC>ccA	p.P75P	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.P75P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	75	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATTCGGTGCCCAAAAAACAAA	0.488000													7	48					1.12685e-05	5.02384e-05	0.000274275	1	0
PSD3	23362	broad.mit.edu	37	8	18729663	18729663	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:18729663C>T	ENST00000440756.2	-	3	813	c.711G>A	c.(709-711)agG>agA	p.R237R	PSD3_ENST00000327040.8_Silent_p.R237R|PSD3_ENST00000523619.1_Silent_p.R172R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	237					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)		CAGCCCCTTTCCTCCCATTAT	0.507000													8	43					0	0	0.000274275	0	0
CROCC	9696	broad.mit.edu	37	1	17263259	17263259	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:17263259C>T	ENST00000375541.5	+	9	1153	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	362					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)		GAAACAGGCCCTGCTGCAGGC	0.687000													7	20					0	0	0.00198382	0	0
NLRC4	58484	broad.mit.edu	37	2	32476013	32476013	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32476013G>A	ENST00000404025.2	-	5	1408	c.920C>T	c.(919-921)gCt>gTt	p.A307V	NLRC4_ENST00000360906.5_Missense_Mutation_p.A307V|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.A307V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	307	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCGGATGAGAGCCTGGGCGCT	0.527000													16	47					0	0	0.00074312	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044362	90044362	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:90044362G>A	ENST00000462693.1	+	0	313																											GGCAGGGACAGATTTCACACT	0.517000													29	66					0	0	0.000953801	0	0
DEFA6	1671	broad.mit.edu	37	8	6782416	6782416	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:6782416C>T	ENST00000297436.2	-	2	267	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	76					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ATAACAGGACCTTCTGCAATG	0.478000													20	53					0	0	0.00152264	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596520	24596520	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:24596520C>T	ENST00000535378.1	-	4	997	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	KIAA0319_ENST00000543707.1_Missense_Mutation_p.G128R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G83R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G128R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G128R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	128					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCCCAGATCCCCGAGGGGGAG	0.552000													13	28					0	0	0.00185496	0	0
CUX2	23316	broad.mit.edu	37	12	111652091	111652091	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:111652091G>A	ENST00000261726.6	+	2	305	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACTCCGCCGGGAATTTAAGAA	0.383000													28	53					0	0	0.00106085	0	0
METTL1	4234	broad.mit.edu	37	12	58162854	58162854	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:58162854G>A	ENST00000324871.7	-	6	1465	c.756C>T	c.(754-756)ttC>ttT	p.F252F	METTL1_ENST00000257848.7_3'UTR	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	252						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			AGATGGCTGGGAAATTCTTCC	0.537000													18	43					0	0	0.000566183	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349727	36349727	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36349727C>T	ENST00000360202.5	+	4	681	c.483C>T	c.(481-483)ttC>ttT	p.F161F	KIRREL2_ENST00000347900.6_Silent_p.F111F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.F161F|KIRREL2_ENST00000586102.2_Silent_p.F161F|KIRREL2_ENST00000262625.7_Silent_p.F161F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	161	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTGTGGTTCCGAGATGGGG	0.582000													23	74					0	0	0.000720815	0	0
SLC3A1	6519	broad.mit.edu	37	2	44527121	44527121	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:44527121G>A	ENST00000260649.6	+	5	979	c.903G>A	c.(901-903)cgG>cgA	p.R301R	SLC3A1_ENST00000409741.1_Silent_p.R301R|SLC3A1_ENST00000409380.1_Silent_p.R23R|SLC3A1_ENST00000409387.1_Silent_p.R301R|SLC3A1_ENST00000409229.3_Silent_p.R301R|SLC3A1_ENST00000410056.3_Silent_p.R301R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAATTTTACGGTTCTGGCTCA	0.368000													21	147					0	0	0.00047179	0	0
APBB1	322	broad.mit.edu	37	11	6424607	6424607	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:6424607C>T	ENST00000389906.2	-	5	1081	c.982G>A	c.(982-984)Gag>Aag	p.E328K	APBB1_ENST00000299402.6_Missense_Mutation_p.E328K|APBB1_ENST00000311051.3_Missense_Mutation_p.E328K|APBB1_ENST00000533407.1_Missense_Mutation_p.E69K|APBB1_ENST00000530885.1_Missense_Mutation_p.E108K	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	328					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGTCCCAGCTCCATTGGGGCC	0.567000													7	24					0	0	0.00198382	0	0
NDRG2	57447	broad.mit.edu	37	14	21487861	21487861	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21487861C>T	ENST00000556147.1	-	10	1593	c.653G>A	c.(652-654)aGa>aAa	p.R218K	NDRG2_ENST00000553503.1_Missense_Mutation_p.R204K|NDRG2_ENST00000554143.1_Missense_Mutation_p.R204K|NDRG2_ENST00000397853.3_Missense_Mutation_p.R218K|NDRG2_ENST00000397856.3_Missense_Mutation_p.R204K|NDRG2_ENST00000554104.1_Missense_Mutation_p.R131K|NDRG2_ENST00000397858.1_Missense_Mutation_p.R218K|NDRG2_ENST00000397844.2_Missense_Mutation_p.R204K|NDRG2_ENST00000555158.1_Missense_Mutation_p.R204K|NDRG2_ENST00000397855.3_Missense_Mutation_p.R175K|NDRG2_ENST00000403829.3_Missense_Mutation_p.R214K|NDRG2_ENST00000298684.5_Missense_Mutation_p.R175K|NDRG2_ENST00000397847.2_Missense_Mutation_p.R218K|NDRG2_ENST00000350792.3_Missense_Mutation_p.R204K|NDRG2_ENST00000397851.2_Missense_Mutation_p.R218K|NDRG2_ENST00000298687.5_Missense_Mutation_p.R218K|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000360463.3_Missense_Mutation_p.R204K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	218					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AATGATATTTCTGTACTTTTG	0.403000													6	31					0	0	0.00198382	0	0
INO80	54617	broad.mit.edu	37	15	41373247	41373247	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41373247G>A	ENST00000361937.3	-	8	1322	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	INO80_ENST00000401393.3_Missense_Mutation_p.R300C			Q9ULG1	INO80_HUMAN	INO80 complex subunit	300	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AACAGGTTACGAGCTGAAGCT	0.308000													37	181					0	0	0.00195071	0	0
ZNF649	65251	broad.mit.edu	37	19	52400175	52400175	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52400175G>A	ENST00000354957.3	-	3	356	c.72C>T	c.(70-72)ttC>ttT	p.F24F	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Silent_p.F24F	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CAGGGCTCAGGAACTGCCACT	0.512000													45	94					0	0	0.000781405	0	0
ZNF536	9745	broad.mit.edu	37	19	30936617	30936617	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:30936617C>T	ENST00000355537.3	+	2	2295	c.2148C>T	c.(2146-2148)caC>caT	p.H716H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCCGCACCCCTCCTCGC	0.677000													14	19					0	0	0.00074312	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884532	205884532	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:205884532C>T	ENST00000367135.3	-	21	2442	c.2328_splice	c.e21-1	p.E777_splice	SLC26A9_ENST00000367134.2_Splice_Site_p.E777_splice|SLC26A9_ENST00000340781.4_Splice_Site_p.E777_splice	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	777						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCGAACATCTCCTGCAGGAAC	0.597000													12	61					0	0	0.00185496	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669145	48669145	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:48669145G>A	ENST00000352832.5	+	12	3057	c.2685G>A	c.(2683-2685)cgG>cgA	p.R895R	CACNA1G_ENST00000514717.1_Silent_p.R895R|CACNA1G_ENST00000360761.4_Silent_p.R895R|CACNA1G_ENST00000512389.1_Silent_p.R895R|CACNA1G_ENST00000354983.4_Silent_p.R895R|CACNA1G_ENST00000515765.1_Silent_p.R895R|CACNA1G_ENST00000514181.1_Silent_p.R895R|CACNA1G_ENST00000513964.1_Silent_p.R895R|CACNA1G_ENST00000510366.1_Silent_p.R895R|CACNA1G_ENST00000507609.1_Silent_p.R895R|CACNA1G_ENST00000503485.1_Silent_p.R895R|CACNA1G_ENST00000514079.1_Silent_p.R895R|CACNA1G_ENST00000416767.4_Silent_p.R895R|CACNA1G_ENST00000507336.1_Silent_p.R895R|CACNA1G_ENST00000505165.1_Silent_p.R895R|CACNA1G_ENST00000358244.5_Silent_p.R895R|CACNA1G_ENST00000510115.1_Silent_p.R895R|CACNA1G_ENST00000429973.2_Silent_p.R895R|CACNA1G_ENST00000507510.2_Silent_p.R895R|CACNA1G_ENST00000502264.1_Silent_p.R895R|CACNA1G_ENST00000515411.1_Silent_p.R895R|CACNA1G_ENST00000442258.2_Silent_p.R895R|CACNA1G_ENST00000515165.1_Silent_p.R895R|CACNA1G_ENST00000359106.5_Silent_p.R895R|CACNA1G_ENST00000513689.2_Silent_p.R895R|CACNA1G_ENST00000507896.1_Silent_p.R895R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	895					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCTGAGCGGGATGGGGACA	0.607000													15	42					0	0	0.000958276	0	0
OR56A3	390083	broad.mit.edu	37	11	5968725	5968725	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5968725T>A	ENST00000329564.6	+	1	156	c.149T>A	c.(148-150)cTg>cAg	p.L50Q		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACCCTCCTGATGACCATC	0.607000													14	62					0	0	0.000219431	0	0
SRD5A1	6715	broad.mit.edu	37	5	6652106	6652106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:6652106C>T	ENST00000274192.5	+	2	679	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	149					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GGTAACAGATCCCCGTTTTCT	0.443000													15	86					0	0	0.000566183	0	0
FNDC1	84624	broad.mit.edu	37	6	159653882	159653882	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:159653882G>A	ENST00000297267.9	+	11	2538	c.2338G>A	c.(2338-2340)Gga>Aga	p.G780R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G717R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	780						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGTCTCTGAGGGAGCGGAGGC	0.662000													10	19					0	0	0.000673444	0	0
MUC17	140453	broad.mit.edu	37	7	100683264	100683264	+	Missense_Mutation	SNP	G	G	A	rs149735729	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100683264G>A	ENST00000306151.4	+	3	8631	c.8567G>A	c.(8566-8568)gGt>gAt	p.G2856D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGAAGGTATCGTCGTG	0.507000													76	164					0	0	0.000781405	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802514	63802514	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:63802514C>T	ENST00000334025.2	+	1	389	c.63C>T	c.(61-63)ttC>ttT	p.F21F	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	21					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTCGATCTTCCAGATCAGCA	0.637000													9	36					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9066073	9066073	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9066073G>A	ENST00000397910.4	-	3	21576	c.21373C>T	c.(21373-21375)Cct>Tct	p.P7125S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.517000													22	68					0	0	0.000878237	0	0
CHD2	1106	broad.mit.edu	37	15	93515552	93515552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:93515552C>T	ENST00000394196.4	+	19	3478	c.2410C>T	c.(2410-2412)Cga>Tga	p.R804*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R804*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	804	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGACTTCGAGAAAGGGG	0.378000													15	53					0	0	0.000219431	0	0
RFX6	222546	broad.mit.edu	37	6	117232120	117232120	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:117232120C>T	ENST00000332958.2	+	7	711	c.695C>T	c.(694-696)tCg>tTg	p.S232L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGTAAATATTCGCTTAGCTCA	0.343000													21	59					0	0	0.00047179	0	0
COL16A1	1307	broad.mit.edu	37	1	32120952	32120952	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32120952G>A	ENST00000373672.3	-	67	4769	c.4253C>T	c.(4252-4254)tCg>tTg	p.S1418L	RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1418L|RP11-73M7.6_ENST00000589462.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1418	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGGCTCCCCGAAGGCCCCGG	0.682000													10	39					0	0	0.000673444	0	0
MGAT4C	25834	broad.mit.edu	37	12	86383208	86383208	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:86383208C>T	ENST00000604798.1	-	6	1321	c.117G>A	c.(115-117)atG>atA	p.M39I	MGAT4C_ENST00000552808.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000552435.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000393205.2_Missense_Mutation_p.M68I|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M39I|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M39I|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M39I			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	39					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTACAAGTTCATAAAAAGGA	0.323000													9	23					0	0	0.000274275	0	0
OR5A1	219982	broad.mit.edu	37	11	59211305	59211305	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:59211305G>A	ENST00000302030.2	+	1	689	c.664G>A	c.(664-666)Ggt>Agt	p.G222S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TATCTCCTATGGTTACATAGT	0.532000													42	68					0	0	0.000509022	0	0
EMR2	30817	broad.mit.edu	37	19	14875257	14875257	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14875257G>A	ENST00000315576.3	-	11	1523	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	EMR2_ENST00000601345.1_Missense_Mutation_p.P358S|EMR2_ENST00000392964.3_Missense_Mutation_p.P97S|EMR2_ENST00000596991.2_Missense_Mutation_p.P358S|EMR2_ENST00000594294.1_Missense_Mutation_p.P309S|EMR2_ENST00000594076.1_Missense_Mutation_p.P265S|EMR2_ENST00000353005.1_Missense_Mutation_p.P216S|EMR2_ENST00000595839.1_Missense_Mutation_p.P216S|EMR2_ENST00000392965.3_Missense_Mutation_p.P358S|EMR2_ENST00000392967.2_Missense_Mutation_p.P358S|EMR2_ENST00000353876.1_Missense_Mutation_p.P265S|EMR2_ENST00000346057.1_Missense_Mutation_p.P309S	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	358					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGCCTGCAGGATAACTGAAG	0.562000													11	50					0	0	0.000308642	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309039	61309039	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61309039C>T	ENST00000341074.5	-	4	421	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SERPINB4_ENST00000356424.6_Silent_p.K102K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGTTGGCGATCTTCAGCTCAT	0.403000													8	29					0	0	0.000442599	0	0
RXFP1	59350	broad.mit.edu	37	4	159520547	159520547	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:159520547G>A	ENST00000307765.5	+	4	607	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	RXFP1_ENST00000448688.2_Missense_Mutation_p.R38Q|RXFP1_ENST00000423548.1_Missense_Mutation_p.R119Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.R86Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.R119Q|RXFP1_ENST00000460056.2_Missense_Mutation_p.R38Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	119	LRRNT.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACCAATTTACGAGCTGTTCCA	0.423000													7	34					0	0	0.000442599	0	0
OR5H14	403273	broad.mit.edu	37	3	97868484	97868484	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:97868484C>T	ENST00000437310.1	+	1	315	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGATCAACTTCTTAGCTAAGA	0.393000													52	91					0	0	0.000781405	0	0
ACE2	59272	broad.mit.edu	37	X	15596283	15596283	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:15596283G>A	ENST00000427411.1	-	10	1442	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	ACE2_ENST00000252519.3_Missense_Mutation_p.S409L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	409					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGCAGAAAGTGACATGATTTC	0.413000													8	17					0	0	0.000673444	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349728	36349728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36349728C>T	ENST00000360202.5	+	4	682	c.484C>T	c.(484-486)Cga>Tga	p.R162*	KIRREL2_ENST00000347900.6_Nonsense_Mutation_p.R112*|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Nonsense_Mutation_p.R162*|KIRREL2_ENST00000586102.2_Nonsense_Mutation_p.R162*|KIRREL2_ENST00000262625.7_Nonsense_Mutation_p.R162*	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	162	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGTGGTTCCGAGATGGGGT	0.587000													23	76					0	0	0.000720815	0	0
CCNA1	8900	broad.mit.edu	37	13	37014135	37014135	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37014135C>T	ENST00000418263.1	+	6	1260	c.910C>T	c.(910-912)Cct>Tct	p.P304S	CCNA1_ENST00000440264.1_Missense_Mutation_p.P261S|CCNA1_ENST00000449823.1_Missense_Mutation_p.P261S|CCNA1_ENST00000255465.4_Missense_Mutation_p.P305S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	305					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGAGATATATCCTCCTGAAGT	0.403000													5	23					0	0	0.00116845	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717903	24717903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:24717903C>T	ENST00000314328.9	+	5	1240	c.955C>T	c.(955-957)Cct>Tct	p.P319S	KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.P319S|SPECC1L_ENST00000437398.1_Missense_Mutation_p.P319S|SPECC1L_ENST00000541492.1_Missense_Mutation_p.P319S|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	319					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGCTCTGCCCCTGGCTCAGT	0.488000													23	74					0	0	0.000720815	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:51025778C>T	ENST00000442544.2	+	27	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000													12	67					0	0	0.00185496	0	0
CACNG2	10369	broad.mit.edu	37	22	36962500	36962500	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:36962500C>T	ENST00000300105.6	-	3	1317	c.336G>A	c.(334-336)gtG>gtA	p.V112V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	112					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAGCAGAATCACACTCAGGA	0.552000													23	57					0	0	0.00229938	0	0
FOXA2	3170	broad.mit.edu	37	20	22563421	22563421	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:22563421G>A	ENST00000419308.2	-	2	643	c.441C>T	c.(439-441)gaC>gaT	p.D147D	FOXA2_ENST00000377115.4_Silent_p.D147D|FOXA2_ENST00000319993.4_Silent_p.D153D	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	147					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGGTCTTGGGGTCGCGGGCGC	0.677000													29	100					0	0	0.000953801	0	0
HCAR1	27198	broad.mit.edu	37	12	123214230	123214230	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123214230G>A	ENST00000432564.1	-	1	899	c.657C>T	c.(655-657)acC>acT	p.T219T	HCAR1_ENST00000436083.2_Silent_p.T219T|HCAR1_ENST00000356987.2_Silent_p.T219T	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	219					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TGATGAACCGGGTCGCCTTCT	0.557000													17	60					0	0	0.000720815	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354776	45354776	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:45354776C>T	ENST00000359271.2	+	2	1351	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	367						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGAGCCAATCTTGTCCACTG	0.627000													19	52					0	0	0.00121646	0	0
POLR3E	55718	broad.mit.edu	37	16	22320279	22320279	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:22320279C>T	ENST00000299853.5	+	5	366	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	POLR3E_ENST00000564209.1_Missense_Mutation_p.P67S|POLR3E_ENST00000359210.4_Missense_Mutation_p.P67S|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Missense_Mutation_p.P31S	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	67					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CACCCTGAACCCCAACTATTG	0.617000													24	53					0	0	0.00127121	0	0
MCEE	84693	broad.mit.edu	37	2	71357326	71357326	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:71357326T>C	ENST00000244217.5	-	1	41	c.24A>G	c.(22-24)gcA>gcG	p.A8A		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	8					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CATTCGCGGCTGCAGCCTTCA	0.697000													6	17					0	0	0.00198382	0	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:196749422G>A	ENST00000312428.6	-	35	5750	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1884					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						TTTCGAGTTCGATCTGAAATT	0.358000													28	60					0	0	0.000878237	0	0
NRAP	4892	broad.mit.edu	37	10	115372085	115372085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115372085G>A	ENST00000369358.4	-	30	3674	c.3430C>T	c.(3430-3432)Cag>Tag	p.Q1144*	NRAP_ENST00000360478.3_Nonsense_Mutation_p.Q1101*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.Q1109*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q1136*			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1136						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGTAGTCCTGATTGCTGGCC	0.532000													11	51					0	0	0.000673444	0	0
CATSPERG	57828	broad.mit.edu	37	19	38848958	38848958	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:38848958C>T	ENST00000409235.3	+	12	1471	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	CATSPERG_ENST00000215069.4_Silent_p.F445F|CATSPERG_ENST00000410018.1_Silent_p.F412F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	452					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCCAGAATTCATCCCTGAAG	0.562000													23	44					0	0	0.000375601	0	0
CSF3R	1441	broad.mit.edu	37	1	36937222	36937222	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:36937222C>T	ENST00000373103.1	-	10	1644	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CSF3R_ENST00000338937.5_Missense_Mutation_p.G366E|CSF3R_ENST00000331941.5_Missense_Mutation_p.G366E|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.G366E|CSF3R_ENST00000418048.2_Missense_Mutation_p.G366E|CSF3R_ENST00000373104.1_Missense_Mutation_p.G366E|CSF3R_ENST00000440588.2_Missense_Mutation_p.G366E|CSF3R_ENST00000373106.1_Missense_Mutation_p.G366E	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	366	Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGGATCCGTCCGCTGTCTTC	0.597000													40	123					0	0	0.00222228	0	0
ESYT3	83850	broad.mit.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582000													36	190					0	0	0.00111076	0	0
CEP164	22897	broad.mit.edu	37	11	117280572	117280572	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:117280572C>T	ENST00000278935.3	+	30	4134	c.3987C>T	c.(3985-3987)ccC>ccT	p.P1329P	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1329					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTGCTACACCCACGTCCACCC	0.637000													34	82					0	0	0.000953801	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412316	105412316	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:105412316G>A	ENST00000333244.5	-	7	9591	c.9472C>T	c.(9472-9474)Cca>Tca	p.P3158S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3158						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACTTGCCTGGGGCAGACACC	0.587000													70	129					0	0	0.000781405	0	0
PLD5	200150	broad.mit.edu	37	1	242271057	242271057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:242271057C>T	ENST00000442594.2	-	9	1388	c.879G>A	c.(877-879)tgG>tgA	p.W293*	PLD5_ENST00000536534.1_Nonsense_Mutation_p.W385*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.W323*	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	385						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTTTCCTTCCAGAAGCTTA	0.378000													41	109					0	0	0.00128727	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47626796	47626796	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:47626796C>T	ENST00000371917.4	+	27	3612	c.3612C>T	c.(3610-3612)atC>atT	p.I1204I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1204					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATGGCGATCCGCTGCATTG	0.542000													31	79					0	0	0.00178596	0	0
ZNF862	643641	broad.mit.edu	37	7	149558181	149558181	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:149558181C>T	ENST00000223210.4	+	7	2177	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGATTTACATCCGCTACTTCA	0.587000													11	9					0	0	0.000673444	0	0
DGKI	9162	broad.mit.edu	37	7	137374695	137374695	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:137374695C>T	ENST00000424189.2	-	2	684	c.455G>A	c.(454-456)aGc>aAc	p.S152N	DGKI_ENST00000288490.5_Missense_Mutation_p.S152N|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.S152N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	152					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACAGGAAGGCTGAGGGGATG	0.483000													8	62					0	0	0.000978159	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:103136335G>A	ENST00000295269.4	+	9	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000													10	30					0	0	0.00136819	0	0
PARVA	55742	broad.mit.edu	37	11	12540005	12540005	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:12540005C>T	ENST00000334956.8	+	12	1446	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	PARVA_ENST00000539723.1_Missense_Mutation_p.S328F|PARVA_ENST00000550549.1_Missense_Mutation_p.S328F	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	328	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		TTGAATGTCTCCTTTGCCTTT	0.542000													4	30					0	0	0.00116845	0	0
TGM1	7051	broad.mit.edu	37	14	24728336	24728336	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24728336C>T	ENST00000206765.6	-	7	1227	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	368					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGGAATATCCCGTGCGTAGGT	0.612000													5	18					0	0	0.00116845	0	0
RBBP6	5930	broad.mit.edu	37	16	24580206	24580206	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24580206C>T	ENST00000319715.4	+	17	2627	c.2195C>T	c.(2194-2196)cCa>cTa	p.P732L	RBBP6_ENST00000348022.2_Missense_Mutation_p.P698L|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGGTCACCTCCATACCCCAGA	0.473000													15	44					0	0	0.000566183	0	0
PER1	5187	broad.mit.edu	37	17	8054013	8054013	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:8054013G>A	ENST00000317276.4	-	2	249	c.12C>T	c.(10-12)ccC>ccT	p.P4P	PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Silent_p.P4P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	4					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCTTCTAGGGGGCCACTCA	0.667000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	16					0	0	0.000157383	0	0
MYO3A	53904	broad.mit.edu	37	10	26500800	26500800	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:26500800G>A	ENST00000265944.5	+	35	4925	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	MYO3A_ENST00000543632.1_Missense_Mutation_p.G602E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1587					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCCCGAGAAGGAGGAGGAGAG	0.642000													10	34					0	0	0.000978159	0	0
MYOT	9499	broad.mit.edu	37	5	137206604	137206604	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137206604C>T	ENST00000239926.4	+	2	638	c.264C>T	c.(262-264)acC>acT	p.T88T	MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_5'UTR|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	88	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACAACCACCTATAACCAGT	0.507000													5	21					0	0	0.000602214	0	0
C16orf82	162083	broad.mit.edu	37	16	27078289	27078289	+	RNA	SNP	T	T	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:27078289T>A	ENST00000505035.1	+	0	262				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			ACAGCCAACATTCAGAGGCCT	0.547000													10	46					0	0	0.00136819	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962622	73962622	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:73962622C>T	ENST00000373468.1	-	3	2421	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K	KIAA2022_ENST00000055682.5_Silent_p.K590K			Q5QGS0	K2022_HUMAN	KIAA2022	590					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.K590N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTCTTCTTCTTTTGCCAGA	0.458000													5	10					0	0	0.000602214	0	0
GLYAT	10249	broad.mit.edu	37	11	58478127	58478127	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:58478127C>T	ENST00000344743.3	-	5	565	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	GLYAT_ENST00000529732.1_Missense_Mutation_p.E142K|GLYAT_ENST00000278400.3_Missense_Mutation_p.E142K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	142					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGAGTCAGTTCCTTGGCTGTT	0.428000													32	59					0	0	0.0024448	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	rs36040686	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28968349C>T	ENST00000359747.4	+	4	265	c.236C>T	c.(235-237)tCg>tTg	p.S79L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S79L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTGCGAATCGAACCAGAAG	0.418000													6	17					0	0	0.00116845	0	0
TPH1	7166	broad.mit.edu	37	11	18047205	18047205	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:18047205C>T	ENST00000250018.2	-	7	1409	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	TPH1_ENST00000341556.2_Missense_Mutation_p.E283K	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	283					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAACTAGGTTCAGCCAAAAGC	0.438000													21	44					0	0	0.00229938	0	0
CDHR4	389118	broad.mit.edu	37	3	49836345	49836345	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49836345C>T	ENST00000412678.2	-	4	417	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	CDHR4_ENST00000343366.4_Missense_Mutation_p.G162E|CDHR4_ENST00000487256.1_Missense_Mutation_p.E137K	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGAATCATTTCCCCAGCTGGC	0.637000													5	20					0	0	0.000602214	0	0
MYH7	4625	broad.mit.edu	37	14	23886362	23886362	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23886362C>T	ENST00000355349.3	-	32	4681	c.4519_splice	c.e32+1	p.E1507_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1507					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCAGCACACCCTGCAGGTTT	0.602000													29	142					0	0	0.000814825	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20592019	20592019	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20592019C>T	ENST00000202677.6	-	14	1882	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	580					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TATCCTTTGGCTTCTGCATGA	0.393000													100	286					0	0	0.000781405	0	0
TRPV5	56302	broad.mit.edu	37	7	142605774	142605774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142605774C>T	ENST00000265310.1	-	15	2444	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	699					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCCAGCCTCGGTGACTGCT	0.557000													9	46					0	0	0.000442599	0	0
PLVAP	83483	broad.mit.edu	37	19	17476443	17476443	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17476443G>A	ENST00000252590.4	-	3	892	c.831C>T	c.(829-831)agC>agT	p.S277S		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	277						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTCATGAGGCTGGGCATGT	0.632000													21	57					0	0	0.00188189	0	0
MYO3B	140469	broad.mit.edu	37	2	171248918	171248918	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:171248918G>A	ENST00000334231.6	+	16	1731	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	MYO3B_ENST00000408978.4_Silent_p.V568V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.V568V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	568	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTGGAAGGGTGATGCACGACA	0.413000													11	37					0	0	0.00185496	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232575022	232575022	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:232575022G>A	ENST00000366630.1	-	14	4221	c.3863C>T	c.(3862-3864)tCc>tTc	p.S1288F	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S362F|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1288F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1288				S -> P (in Ref. 2; BAB14273).	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGGATCAGGGACCTGCTGCC	0.647000													8	65					0	0	0.000274275	0	0
TRIM58	25893	broad.mit.edu	37	1	248020688	248020688	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248020688C>T	ENST00000366481.3	+	1	188	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	47						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCGAGAAGTCGGACGGCGCG	0.716000													5	29					0	0	0.00116845	0	0
CSMD2	114784	broad.mit.edu	37	1	34238348	34238348	+	Silent	SNP	G	G	A	rs144733811	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34238348G>A	ENST00000373381.4	-	13	1844	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	CSMD2_ENST00000338325.1_Silent_p.I164I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	516	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCTGCTCGATCTCTGAAA	0.527000													9	49					0	0	0.000274275	0	0
AMPD1	270	broad.mit.edu	37	1	115220613	115220613	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:115220613G>A	ENST00000369538.3	-	8	1276	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	AMPD1_ENST00000520113.2_Missense_Mutation_p.P414L|AMPD1_ENST00000353928.6_Missense_Mutation_p.P381L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	381					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGCTCCTACAGGATTATATTT	0.428000													24	40					0	0	0.000375601	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176404	150176404	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:150176404C>T	ENST00000361875.2	+	4	3340	c.2324C>T	c.(2323-2325)cCg>cTg	p.P775L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P751L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	775							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACAGCAGCCGAATGTCTCC	0.473000													7	44					0	0	0.000157383	0	0
TEX11	56159	broad.mit.edu	37	X	69774649	69774649	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:69774649C>T	ENST00000395889.2	-	27	2342	c.2185_splice	c.e27-1	p.G729_splice	TEX11_ENST00000374333.2_Splice_Site_p.G714_splice|TEX11_ENST00000344304.3_Splice_Site_p.G729_splice|TEX11_ENST00000374320.2_Splice_Site_p.G404_splice	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	729							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTGAGAAGGTCCCTAAGAAAG	0.348000													11	15					0	0	0.000978159	0	0
MUC15	143662	broad.mit.edu	37	11	26587086	26587086	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:26587086G>A	ENST00000436318.2	-	2	534	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S134F|MUC15_ENST00000281268.8_Missense_Mutation_p.S134F|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S134F|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S107F			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	107						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGGGCTTGTGGAAATGGTAGA	0.448000													9	24					0	0	0.000274275	0	0
AGBL1	123624	broad.mit.edu	37	15	86808009	86808009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:86808009G>A	ENST00000441037.2	+	10	1564	c.1469G>A	c.(1468-1470)tGg>tAg	p.W490*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W490*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W221*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	490					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCTGATGTCTGGGGACACTGT	0.507000													11	60					0	0	0.000978159	0	0
KLHL30	377007	broad.mit.edu	37	2	239049740	239049740	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:239049740C>T	ENST00000409223.1	+	2	452	c.345C>T	c.(343-345)ttC>ttT	p.F115F	KLHL30_ENST00000305959.4_Silent_p.F97F			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	115										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCCTGCACTTCCCCTCGGTGC	0.662000													25	54					0	0	0.00047179	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299840	145299840	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:145299840C>T	ENST00000342960.5	+	6	924	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Missense_Mutation_p.P26S|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	297										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATTGCGCCCCCAGCTGGC	0.483000													19	506					0	0	0.00106085	0	0
WDR72	256764	broad.mit.edu	37	15	53997325	53997325	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:53997325C>T	ENST00000396328.1	-	11	1447	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	WDR72_ENST00000360509.5_Missense_Mutation_p.G403E|WDR72_ENST00000559418.1_Missense_Mutation_p.G413E|WDR72_ENST00000557913.1_Missense_Mutation_p.G400E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	403										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TACAGCAGTTCCTGCCCCATC	0.388000													21	112					0	0	0.000375601	0	0
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:150649632C>T	ENST00000392968.2	-	4	2270	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	KCNH2_ENST00000330883.4_Missense_Mutation_p.E140K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E480K|KCNH2_ENST00000262186.5_Missense_Mutation_p.E480K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	480					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597000													20	88					0	0	0.000720815	0	0
LCK	3932	broad.mit.edu	37	1	32745728	32745728	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:32745728G>A	ENST00000333070.4	+	12	1434	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	LCK_ENST00000373564.3_Missense_Mutation_p.G422E|LCK_ENST00000336890.5_Missense_Mutation_p.G415E	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	415	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTAACTACGGGACATTCACC	0.557000			T	TRB@	T-ALL								21	38					0	0	0.00229938	0	0
PCLO	27445	broad.mit.edu	37	7	82586143	82586143	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82586143C>T	ENST00000423517.2	-	5	4463	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1376K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1307					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGGAATTTCACCAAGTGAG	0.443000													17	35					0	0	0.000422831	0	0
FAM213A	84293	broad.mit.edu	37	10	82180315	82180315	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:82180315T>G	ENST00000372181.1	+	1	562	c.92T>G	c.(91-93)cTt>cGt	p.L31R	FAM213A_ENST00000372185.1_Missense_Mutation_p.L20R|FAM213A_ENST00000372187.5_Missense_Mutation_p.L31R|FAM213A_ENST00000372188.1_Missense_Mutation_p.L31R	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	31						extracellular region											GCATTGCTGCTTGCCAACACA	0.552000													10	46					0	0	0.000673444	0	0
FAT3	120114	broad.mit.edu	37	11	92577351	92577351	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92577351C>T	ENST00000298047.6	+	18	10835	c.10818C>T	c.(10816-10818)atC>atT	p.I3606I	FAT3_ENST00000409404.2_Silent_p.I3606I|FAT3_ENST00000525166.1_Silent_p.I3456I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3606	Cadherin 33.				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)				GGAAAATCATCGCCCTGGGAG	0.488000										TCGA Ovarian(4;0.039)			178	259					0	0	0.000781405	0	0
RPRD2	23248	broad.mit.edu	37	1	150429903	150429903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:150429903C>T	ENST00000401000.4	+	7	997	c.932C>T	c.(931-933)cCt>cTt	p.P311L	RPRD2_ENST00000539519.1_Missense_Mutation_p.P311L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P337L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	337							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGAGTCTCCTTTTCAGGGA	0.502000													53	140					0	0	0.000781405	0	0
UBN1	29855	broad.mit.edu	37	16	4924587	4924587	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:4924587C>T	ENST00000396658.4	+	14	2879	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S	UBN1_ENST00000262376.6_Missense_Mutation_p.P726S|UBN1_ENST00000545171.1_Missense_Mutation_p.P726S|UBN1_ENST00000590769.1_Missense_Mutation_p.P726S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	726					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCCTTCTGCTCCACCACCAGC	0.502000													80	169					0	0	0.000781405	0	0
CCDC83	220047	broad.mit.edu	37	11	85593684	85593684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:85593684G>A	ENST00000280245.4	+	4	821	c.309G>A	c.(307-309)tgG>tgA	p.W103*	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Nonsense_Mutation_p.W60*|CCDC83_ENST00000342404.3_Nonsense_Mutation_p.W103*	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	103										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGAAAAATGGAAGTTTGAAA	0.383000													27	38					0	0	0.00127121	0	0
FAP	2191	broad.mit.edu	37	2	163031376	163031376	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:163031376C>T	ENST00000188790.4	-	22	2177		c.e22+1		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGTTTCCATACCGTAATATTC	0.398000													9	26					0	0	0.000442599	0	0
FLNB	2317	broad.mit.edu	37	3	58107129	58107129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:58107129C>T	ENST00000357272.4	+	20	3190	c.3025C>T	c.(3025-3027)Cgg>Tgg	p.R1009W	FLNB_ENST00000419752.2_Missense_Mutation_p.R840W|FLNB_ENST00000429972.2_Missense_Mutation_p.R1009W|FLNB_ENST00000348383.5_Missense_Mutation_p.R1009W|FLNB_ENST00000493452.1_Missense_Mutation_p.R840W|FLNB_ENST00000490882.1_Missense_Mutation_p.R1009W|FLNB_ENST00000358537.3_Missense_Mutation_p.R1009W|FLNB_ENST00000295956.4_Missense_Mutation_p.R1009W			O75369	FLNB_HUMAN	filamin B, beta	1009					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTTCATCCCTCGGGAGGAGGG	0.622000													23	93					0	0	0.00188189	0	0
AIRE	326	broad.mit.edu	37	21	45706459	45706459	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45706459A>T	ENST00000291582.5	+	2	279	c.152A>T	c.(151-153)gAa>gTa	p.E51V		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	51	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CATCTGAAGGAAAAGGAGGGC	0.632000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				17	44					0	0	0.00074312	0	0
NHLRC2	374354	broad.mit.edu	37	10	115664714	115664714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:115664714C>T	ENST00000369301.3	+	10	2055	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	615					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CCAGACTCTTCAGTTCAAACT	0.458000													12	55					0	0	0.00185496	0	0
CCNA1	8900	broad.mit.edu	37	13	37011908	37011908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:37011908G>A	ENST00000418263.1	+	3	787	c.437G>A	c.(436-438)aGa>aAa	p.R146K	CCNA1_ENST00000440264.1_Missense_Mutation_p.R103K|CCNA1_ENST00000449823.1_Missense_Mutation_p.R103K|CCNA1_ENST00000255465.4_Missense_Mutation_p.R147K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	147					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGGGGACAGAGACAGCTGC	0.537000													9	35					0	0	0.000274275	0	0
RNF165	494470	broad.mit.edu	37	18	44027629	44027629	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44027629C>T	ENST00000269439.7	+	4	640	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	RNF165_ENST00000543885.1_Missense_Mutation_p.P5S	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	197							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCACTTTCCCAGAAACTC	0.567000													31	84					0	0	0.000953801	0	0
SVEP1	79987	broad.mit.edu	37	9	113173652	113173652	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:113173652C>A	ENST00000401783.2	-	37	6675	c.6339G>T	c.(6337-6339)atG>atT	p.M2113I	SVEP1_ENST00000297826.5_Missense_Mutation_p.M39I|SVEP1_ENST00000374469.1_Missense_Mutation_p.M2090I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2113	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAAAGCCTTCCATGCATTTAA	0.473000													4	19					0.00116845	0.00515798	0.00116845	1	0
TG	7038	broad.mit.edu	37	8	134146970	134146970	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:134146970G>A	ENST00000220616.4	+	48	8279	c.8239G>A	c.(8239-8241)Gct>Act	p.A2747T	TG_ENST00000519543.1_Missense_Mutation_p.A880T|TG_ENST00000377869.1_Missense_Mutation_p.A2690T|TG_ENST00000542445.1_Missense_Mutation_p.A1117T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2747					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGTTGACGGCTGGATCTGG	0.557000													5	26					0	0	0.000602214	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399463	89399463	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:89399463G>A	ENST00000479981.1	-	0	266																											ACTTTGATGGGACCCCACTTT	0.483000													36	66					0	0	0.00148497	0	0
MYO6	4646	broad.mit.edu	37	6	76558187	76558187	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:76558187G>A	ENST00000369981.3	+	11	1296	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	MYO6_ENST00000369985.4_Silent_p.R339R|MYO6_ENST00000369975.1_Silent_p.R339R|MYO6_ENST00000369977.3_Silent_p.R339R			Q9UM54	MYO6_HUMAN	myosin VI	339	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.R339R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATCTCTTCCGGGTAGTAGCTG	0.373000													25	69					0	0	0.000720815	0	0
RBM24	221662	broad.mit.edu	37	6	17284914	17284914	+	Missense_Mutation	SNP	C	C	T	rs143113042		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:17284914C>T	ENST00000379052.5	+	3	555	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	RBM24_ENST00000425446.2_Missense_Mutation_p.H49Y|RBM24_ENST00000318204.5_Missense_Mutation_p.H62Y	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	107					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TCAACAACTTCATCCAGCCCT	0.333000													75	165					0	0	0.000781405	0	0
POPDC2	64091	broad.mit.edu	37	3	119378958	119378958	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:119378958G>A	ENST00000493094.1	-	1	772	c.313C>T	c.(313-315)Cct>Tct	p.P105S	POPDC2_ENST00000264231.3_Missense_Mutation_p.P105S|POPDC2_ENST00000538678.1_Missense_Mutation_p.P105S|POPDC2_ENST00000468801.1_Missense_Mutation_p.P105S|POPDC2_ENST00000474523.1_Intron			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	105						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AACTCCTCAGGGAGGGTGTCC	0.582000													21	70					0	0	0.00188189	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918706	112918706	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:112918706C>T	ENST00000374530.3	+	9	3283	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	AKAP2_ENST00000259318.7_Silent_p.L804L|AKAP2_ENST00000434623.2_Silent_p.L893L|AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000302798.7_Silent_p.L1035L|AKAP2_ENST00000555236.1_Silent_p.L1035L|AKAP2_ENST00000374525.1_Silent_p.L893L|AKAP2_ENST00000510514.5_Silent_p.L1035L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		804							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCCAAGAATCTGATGCAGAC	0.512000													19	37					0	0	0.00152264	0	0
PCDH18	54510	broad.mit.edu	37	4	138452408	138452408	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:138452408C>T	ENST00000344876.4	-	1	1221	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	PCDH18_ENST00000412923.2_Missense_Mutation_p.G279R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G59R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	279	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACAATTTTCCCATTAGCGCCC	0.388000													9	41					0	0	0.000673444	0	0
CLMN	79789	broad.mit.edu	37	14	95669315	95669315	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95669315G>A	ENST00000298912.4	-	9	2484	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	791						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGGCACTGGGGAGGCTCTCT	0.642000													4	17					0	0	0.00198382	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131671	151131671	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:151131671G>A	ENST00000368910.3	+	2	624	c.498G>A	c.(496-498)caG>caA	p.Q166Q		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	166					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTTCACTCAGCACCTTGGCA	0.562000													16	37					0	0	0.00152264	0	0
MYH1	4619	broad.mit.edu	37	17	10400655	10400655	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:10400655C>T	ENST00000226207.5	-	32	4574	c.4480G>A	c.(4480-4482)Gaa>Aaa	p.E1494K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1494						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAAAGATTCCTCATAAGCA	0.343000													32	52					0	0	0.000692331	0	0
RGS7	6000	broad.mit.edu	37	1	241262042	241262042	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:241262042C>T	ENST00000366565.1	-	3	480	c.99G>A	c.(97-99)cgG>cgA	p.R33R	RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Silent_p.R7R|RGS7_ENST00000366562.4_Silent_p.R33R|RGS7_ENST00000366563.1_Silent_p.R33R|RGS7_ENST00000401882.1_Silent_p.R33R|RGS7_ENST00000407727.1_Silent_p.R33R|RGS7_ENST00000366564.1_Silent_p.R33R|RGS7_ENST00000348120.2_Silent_p.R33R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	33					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATCTTGCATCCGTGCTATGA	0.338000													19	42					0	0	0.00188189	0	0
CPS1	1373	broad.mit.edu	37	2	211447358	211447358	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:211447358G>A	ENST00000233072.5	+	6	742	c.546G>A	c.(544-546)aaG>aaA	p.K182K	CPS1_ENST00000430249.2_Silent_p.K188K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	182	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCTTGGGAAGATTGAATTTG	0.363000													20	69					0	0	0.00121646	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228606	204228606	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:204228606C>T	ENST00000272203.3	-	8	1103	c.787G>A	c.(787-789)Ggg>Agg	p.G263R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G283R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	263	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTTCCCCACCCCCTGGC	0.672000													14	26					0	0	0.000219431	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543266	133543266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:133543266C>T	ENST00000409261.1	-	14	1491	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R373K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	373	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATACTTAGCCTTTTATCCCA	0.378000													14	26					0	0	0.000422831	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549237	2549237	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:2549237C>T	ENST00000155840.5	+	2	574	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	KCNQ1_ENST00000335475.5_Missense_Mutation_p.L29F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	156					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CACGGGGACTCTCTTCTGGAT	0.617000													91	459					0	0	0.000781405	0	0
SALL3	27164	broad.mit.edu	37	18	76753443	76753443	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:76753443C>T	ENST00000536229.3	+	1	1762	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V	SALL3_ENST00000537592.2_Silent_p.V484V|SALL3_ENST00000575389.2_Silent_p.V484V			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTTACCCGGTCCCCGAGTACC	0.627000													7	19					0	0	0.000673444	0	0
ITGA10	8515	broad.mit.edu	37	1	145533075	145533075	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:145533075G>A	ENST00000369304.3	+	11	1345	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	ITGA10_ENST00000539363.1_Missense_Mutation_p.M247I|ITGA10_ENST00000538811.1_Missense_Mutation_p.M259I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	390					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTTTGGGATGGTGGGGGCCT	0.532000													20	53					0	0	0.00229938	0	0
PLCH1	23007	broad.mit.edu	37	3	155311961	155311961	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:155311961G>A	ENST00000460012.1	-	4	506	c.149C>T	c.(148-150)tCc>tTc	p.S50F	PLCH1_ENST00000494598.1_Missense_Mutation_p.S68F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S68F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S50F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S50F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S68F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	68	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTAAATGGAATCAATAAG	0.423000													14	59					0	0	0.000308642	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055884	68055884	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:68055884C>A	ENST00000478136.1	+	2	605	c.115C>A	c.(115-117)Cca>Aca	p.P39T	FAM19A1_ENST00000496687.1_Missense_Mutation_p.P39T	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	39						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CCTGCACAGACCAGGTAAGTC	0.493000													27	71					4.7796e-09	2.13743e-08	0.000720815	1	0
CA10	56934	broad.mit.edu	37	17	50008359	50008359	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:50008359C>T	ENST00000451037.2	-	3	1210	c.270G>A	c.(268-270)ggG>ggA	p.G90G	CA10_ENST00000570565.1_Silent_p.G15G|CA10_ENST00000340813.6_Silent_p.G96G|CA10_ENST00000285273.4_Silent_p.G90G|CA10_ENST00000442502.2_Silent_p.G90G	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	90					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CCTTCCTGCCCCCCGTGTTGA	0.498000													44	85					0	0	0.000781405	0	0
TMEM170A	124491	broad.mit.edu	37	16	75481529	75481529	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:75481529G>A	ENST00000357613.4	-	3	381	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TMEM170A_ENST00000566980.1_Missense_Mutation_p.A53V|TMEM170A_ENST00000569540.1_Missense_Mutation_p.A83V|TMEM170A_ENST00000567796.1_Missense_Mutation_p.A76V|RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000561878.1_Missense_Mutation_p.A121V			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	121						integral to membrane				endometrium(1)	1						CAGTGTGAGGGCTTCAAATGG	0.408000													29	50					0	0	0.00209593	0	0
GREB1	9687	broad.mit.edu	37	2	11742591	11742591	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:11742591C>T	ENST00000381486.2	+	17	2889	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	GREB1_ENST00000234142.5_Silent_p.S863S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	863						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTATTGAATCCACCCTTTCAG	0.443000													38	177					0	0	0.000589545	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495666	6495666	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:6495666G>A	ENST00000264071.2	-	4	1215	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R282W			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	282					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GTCAGGGCCCGGTACTGCTGG	0.677000													21	85					0	0	0.00188189	0	0
CASR	846	broad.mit.edu	37	3	121980902	121980902	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121980902G>A	ENST00000498619.1	+	4	1458	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	CASR_ENST00000296154.5_Silent_p.R340R|CASR_ENST00000490131.1_Silent_p.R340R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	340					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCATCCCAGGAAGTCTGTCC	0.517000													8	43					0	0	0.000274275	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172067	204172067	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:204172067C>T	ENST00000308302.3	-	2	259	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	25					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGGAGTGTTCCAAAGAGGAT	0.562000													25	46					0	0	0.00106085	0	0
HERC3	8916	broad.mit.edu	37	4	89599133	89599133	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:89599133A>C	ENST00000402738.1	+	19	2283	c.2044A>C	c.(2044-2046)Aac>Cac	p.N682H	HERC3_ENST00000264345.3_Missense_Mutation_p.N682H|HERC3_ENST00000543130.1_Missense_Mutation_p.N126H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAATGGAGCCAACCTGCAGAA	0.542000													10	49					0	0	0.000978159	0	0
ANK1	286	broad.mit.edu	37	8	41551532	41551532	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:41551532C>T	ENST00000396942.1	-	29	3499	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	ANK1_ENST00000379758.2_Missense_Mutation_p.R1139Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1180Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1139Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	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)			GTGGAACTTCCGGCGCCGGGG	0.647000													13	29					0	0	0.000566183	0	0
MAPK4	5596	broad.mit.edu	37	18	48252373	48252373	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:48252373G>A	ENST00000400384.2	+	5	1931	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.D88N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	299	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TAACCCCATGGATCGCCTAAC	0.552000													8	80					0	0	0.000274275	0	0
C1orf123	54987	broad.mit.edu	37	1	53684567	53684567	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:53684567G>A	ENST00000294360.4	-	3	160	c.119C>T	c.(118-120)tCg>tTg	p.S40L	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	40										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCACTTGTCCGAAATCTCACC	0.488000													36	138					0	0	0.00195071	0	0
SEC16B	89866	broad.mit.edu	37	1	177908853	177908853	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:177908853G>A	ENST00000308284.6	-	18	2276	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	729					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTGTTCCTCCGGCTCCCGAAA	0.408000													8	11					0	0	0.000274275	0	0
KCNK16	83795	broad.mit.edu	37	6	39286889	39286889	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:39286889C>T	ENST00000425054.2	-	2	233	c.234G>A	c.(232-234)gtG>gtA	p.V78V	KCNK16_ENST00000507712.1_Silent_p.V13V|KCNK16_ENST00000373229.5_Silent_p.V78V|KCNK16_ENST00000373227.4_Silent_p.V78V|KCNK16_ENST00000437525.2_Silent_p.V78V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	78						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCACACCTTTCACCCAGGCTT	0.537000													22	37					0	0	0.000878237	0	0
ZNF559	84527	broad.mit.edu	37	19	9449237	9449237	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9449237G>A	ENST00000393883.2	+	3	660	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592504.1_Silent_p.G4G|ZNF559_ENST00000603380.1_Silent_p.G4G|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.G68G|ZNF559_ENST00000586255.1_Silent_p.G32G|ZNF559_ENST00000592896.1_Silent_p.G32G|ZNF559_ENST00000585352.1_Silent_p.G4G|ZNF177_ENST00000541595.2_5'UTR|ZNF559_ENST00000317221.7_Silent_p.G4G|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_5'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGTGGCTGGGTGGTTGACAA	0.378000													28	61					0	0	0.000491102	0	0
PRDM10	56980	broad.mit.edu	37	11	129780471	129780471	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:129780471G>A	ENST00000358825.5	-	20	3306	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S	PRDM10_ENST00000304538.6_Silent_p.S888S|PRDM10_ENST00000528746.1_Silent_p.S982S|PRDM10_ENST00000360871.3_Silent_p.S1021S|PRDM10_ENST00000423662.2_Silent_p.S926S|PRDM10_ENST00000526082.1_Silent_p.S939S	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1012	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCCCTGTGTGGAAGAACTGC	0.602000													16	20					0	0	0.000422831	0	0
SLC6A3	6531	broad.mit.edu	37	5	1406321	1406321	+	Silent	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:1406321G>C	ENST00000270349.9	-	12	1708	c.1581C>G	c.(1579-1581)gtC>gtG	p.V527V	SLC6A3_ENST00000453492.2_Silent_p.V527V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	527					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCAGGGGCTGACCAGCTTCC	0.682000													16	63					0	0	0.000566183	0	0
TTC12	54970	broad.mit.edu	37	11	113233138	113233138	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:113233138C>T	ENST00000393020.1	+	19	2035	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	TTC12_ENST00000314756.3_Silent_p.L544L|TTC12_ENST00000529221.1_Silent_p.L544L|TTC12_ENST00000483239.2_Silent_p.L550L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	544							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGCTGGTGTTCTGAGCCGGAC	0.438000													53	100					0	0	0.000781405	0	0
HBP1	26959	broad.mit.edu	37	7	106840715	106840715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:106840715C>T	ENST00000222574.4	+	10	1682	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	HBP1_ENST00000468410.1_Missense_Mutation_p.P499L|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.P499L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	499					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CGTTTAAATCCTGACTGTTGG	0.388000													9	58					0	0	0.000673444	0	0
OR2G3	81469	broad.mit.edu	37	1	247769355	247769355	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:247769355C>T	ENST00000320002.2	+	1	500	c.468C>T	c.(466-468)tcC>tcT	p.S156S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTAGTTCCCTAATCCATG	0.483000													30	79					0	0	0.00178596	0	0
CD101	9398	broad.mit.edu	37	1	117559809	117559809	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:117559809C>T	ENST00000256652.4	+	5	1384	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	CD101_ENST00000369470.1_Silent_p.P442P	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	442	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAAAGTCCCCTGTCTGTGA	0.567000													7	40					0	0	0.00198382	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233848	61233848	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61233848G>A	ENST00000382768.1	+	7	882	c.882G>A	c.(880-882)agG>agA	p.R294R	SERPINB12_ENST00000269491.1_Silent_p.R274R			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	274					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCTTGAAAGGAAAATCACCT	0.463000													34	87					0	0	0.000814825	0	0
TPO	7173	broad.mit.edu	37	2	1500403	1500403	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:1500403G>A	ENST00000345913.4	+	13	2343	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	TPO_ENST00000329066.4_Missense_Mutation_p.G751E|TPO_ENST00000349624.3_Missense_Mutation_p.G578E|TPO_ENST00000337415.3_Missense_Mutation_p.G751E|TPO_ENST00000382198.1_Missense_Mutation_p.G578E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.G694E|TPO_ENST00000346956.3_Missense_Mutation_p.G751E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	751	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTGGAGAATGGGGACTTTGTG	0.547000													53	168					0	0	0.000781405	0	0
TSSC2	650368	broad.mit.edu	37	11	3430139	3430139	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:3430139C>T	ENST00000529482.1	+	0	2268																											CGAGCAGCGCCTCCCAGTGGC	0.547000													8	14					0	0	0.000274275	0	0
RGAG1	57529	broad.mit.edu	37	X	109694148	109694148	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:109694148C>T	ENST00000465301.2	+	3	549	c.303C>T	c.(301-303)tcC>tcT	p.S101S	RGAG1_ENST00000540313.1_Silent_p.S101S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	101										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGGCACTTTCCCCATTGCTAA	0.532000													33	40					0	0	0.00111076	0	0
MRPL37	51253	broad.mit.edu	37	1	54678204	54678204	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:54678204C>T	ENST00000605337.1	+	5	911	c.863C>T	c.(862-864)cCc>cTc	p.P288L	MRPL37_ENST00000360840.5_Missense_Mutation_p.P288L|MRPL37_ENST00000336230.6_Missense_Mutation_p.P157L			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	288					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TACCCCTATCCCCATACCCTG	0.512000													62	225					0	0	0.000781405	0	0
CRHR1	1394	broad.mit.edu	37	17	43912069	43912069	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:43912069C>T	ENST00000314537.5	+	13	1412	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	CRHR1_ENST00000577353.1_Missense_Mutation_p.S382F|CRHR1_ENST00000398285.3_Missense_Mutation_p.S425F|CRHR1_ENST00000352855.5_Missense_Mutation_p.S356F|CRHR1_ENST00000293493.7_Missense_Mutation_p.S221F|CRHR1_ENST00000339069.5_Missense_Mutation_p.P250S	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	425					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CGTGCCATGTCCATCCCCACC	0.632000													19	44					0	0	0.00229938	0	0
NXPE4	54827	broad.mit.edu	37	11	114441812	114441812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:114441812G>A	ENST00000375478.3	-	6	1663	c.1483C>T	c.(1483-1485)Caa>Taa	p.Q495*	NXPE4_ENST00000424261.2_Nonsense_Mutation_p.Q211*	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ATGAGATATTGAATGTAACCA	0.378000													26	43					0	0	0.0024448	0	0
POF1B	79983	broad.mit.edu	37	X	84563138	84563138	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:84563138C>T	ENST00000262753.4	-	10	1187	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	POF1B_ENST00000373145.3_Missense_Mutation_p.D348N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	348							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTGTCATATCATTTTGAAGA	0.358000													5	8					0	0	0.000602214	0	0
PAX3	5077	broad.mit.edu	37	2	223086015	223086015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:223086015G>A	ENST00000350526.4	-	6	1020	c.884C>T	c.(883-885)cCt>cTt	p.P295L	PAX3_ENST00000344493.4_Missense_Mutation_p.P295L|PAX3_ENST00000336840.6_Missense_Mutation_p.P295L|PAX3_ENST00000392070.2_Missense_Mutation_p.P295L|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.P295L|PAX3_ENST00000409551.3_Missense_Mutation_p.P294L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	295					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGTGGGAGGGAACCCCCC	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						43	123					0	0	0.000509022	0	0
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:2622102G>A	ENST00000399655.1	+	9	1607	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567000													5	9					0	0	0.000602214	0	0
DMXL1	1657	broad.mit.edu	37	5	118485689	118485689	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:118485689C>T	ENST00000311085.8	+	18	4247	c.4167C>T	c.(4165-4167)ttC>ttT	p.F1389F	DMXL1_ENST00000539542.1_Silent_p.F1389F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1389										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCAGGCATTCAACAAGGCTG	0.433000													5	20					0	0	0.00198382	0	0
OR11H6	122748	broad.mit.edu	37	14	20692327	20692327	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20692327C>T	ENST00000315519.2	+	1	537	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCCTCCATCATGACTGGGA	0.433000													16	44					0	0	0.000422831	0	0
CCR1	1230	broad.mit.edu	37	3	46245133	46245133	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46245133C>T	ENST00000296140.3	-	2	797	c.672G>A	c.(670-672)aaG>aaA	p.K224K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	224					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTAGCAGAATCTTTATAATCC	0.418000													6	39					0	0	0.00198382	0	0
OR7A5	26659	broad.mit.edu	37	19	14938326	14938326	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14938326G>A	ENST00000322301.3	-	2	815	c.728C>T	c.(727-729)tCt>tTt	p.S243F	OR7A5_ENST00000594432.1_Missense_Mutation_p.S243F|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGAGAGGTGAGATGCACAGGT	0.473000													19	44					0	0	0.00229938	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728837	118728837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:118728837G>A	ENST00000504771.2	+	2	2135	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TNFAIP8_ENST00000503646.1_Missense_Mutation_p.D120N|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D122N|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D110N|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D132N	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	120					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCATCAGGTGGATTATACCTT	0.423000													7	39					0	0	0.00198382	0	0
GML	2765	broad.mit.edu	37	8	143928033	143928033	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143928033G>A	ENST00000220940.1	+	4	494	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	135					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.G135V(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCCAGAAGGAACTGTGAGG	0.463000													12	38					0	0	0.000219431	0	0
FAN1	22909	broad.mit.edu	37	15	31218056	31218056	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:31218056C>T	ENST00000362065.4	+	10	2693	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	801					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTGATGGAGGCCGGGGAGGCC	0.587000								Direct reversal of damage					37	184					0	0	0.000953801	0	0
RWDD3	25950	broad.mit.edu	37	1	95712368	95712368	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:95712368T>G	ENST00000370202.4	+	4	822	c.746T>G	c.(745-747)tTt>tGt	p.F249C	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_3'UTR|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	249						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAAAAGGAATTTGAAACTGCA	0.338000													23	18					0	0	0.000720815	0	0
FN1	2335	broad.mit.edu	37	2	216269122	216269122	+	Silent	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:216269122G>C	ENST00000354785.4	-	20	3612	c.3243C>G	c.(3241-3243)gtC>gtG	p.V1081V	FN1_ENST00000323926.6_Silent_p.V1081V|FN1_ENST00000443816.1_Silent_p.V1081V|FN1_ENST00000421182.1_Silent_p.V1081V|FN1_ENST00000432072.2_Silent_p.V1081V|FN1_ENST00000346544.3_Silent_p.V1081V|FN1_ENST00000345488.5_Silent_p.V1081V|FN1_ENST00000357867.4_Silent_p.V1081V|FN1_ENST00000359671.1_Silent_p.V1081V|FN1_ENST00000357009.2_Silent_p.V1081V|FN1_ENST00000446046.1_Silent_p.V1081V|FN1_ENST00000336916.4_Silent_p.V1081V|FN1_ENST00000356005.4_Silent_p.V1081V			P02751	FINC_HUMAN	fibronectin 1	1081	Fibronectin type-III 5.				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)	GTGTGGTAAAGACTCCAGTGG	0.408000													20	101					0	0	0.00106085	0	0
PKP3	11187	broad.mit.edu	37	11	403636	403636	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:403636C>T	ENST00000331563.2	+	10	2018	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	648					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGCTGAGCCGCCTGGCCCT	0.677000													8	59					0	0	0.000442599	0	0
SQRDL	58472	broad.mit.edu	37	15	45968449	45968449	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:45968449G>A	ENST00000260324.7	+	6	1191	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.D269N|SQRDL_ENST00000568606.1_Missense_Mutation_p.D269N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	269							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGTCCGAGCCGATAAACAAGA	0.478000													18	70					0	0	0.00121646	0	0
NAA15	80155	broad.mit.edu	37	4	140306070	140306070	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:140306070C>T	ENST00000296543.5	+	18	2563	c.2240C>T	c.(2239-2241)cCa>cTa	p.P747L	NAA15_ENST00000398947.1_Missense_Mutation_p.P746L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	747					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGAATCCAAAGAATTTT	0.294000													5	66					0	0	0.00116845	0	0
CHERP	10523	broad.mit.edu	37	19	16633892	16633892	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16633892G>A	ENST00000546361.2	-	11	2102	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	CHERP_ENST00000198939.6_Missense_Mutation_p.P662S|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	651	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCCAGCAGGGAGATCGAAG	0.612000													29	84					0	0	0.000491102	0	0
PSMD5	5711	broad.mit.edu	37	9	123591436	123591436	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:123591436G>A	ENST00000210313.3	-	5	686	c.612C>T	c.(610-612)acC>acT	p.T204T	PSMD5_ENST00000373904.5_Silent_p.T161T|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ATCCACTTGTGGTACAGTAGT	0.383000													41	59					0	0	0.000781405	0	0
E2F8	79733	broad.mit.edu	37	11	19251050	19251050	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:19251050G>A	ENST00000527884.1	-	10	2076	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	E2F8_ENST00000250024.4_Missense_Mutation_p.S615F|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	615					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTTTTTGGAACCACTGTC	0.483000													61	121					0	0	0.000781405	0	0
TRIM58	25893	broad.mit.edu	37	1	248039598	248039598	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248039598C>T	ENST00000366481.3	+	6	1316	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	423	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAATTTCATTCTACAAT	0.438000													64	147					0	0	0.000781405	0	0
SLC38A3	10991	broad.mit.edu	37	3	50251628	50251628	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:50251628G>A	ENST00000420502.1	+	0	150							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GGTGTGCCCTGAGCCATGGAG	0.617000													12	35					0	0	0.000219431	0	0
OR1J4	26219	broad.mit.edu	37	9	125281530	125281530	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:125281530C>T	ENST00000340750.1	+	1	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTACCTGATCACGGTGCTGG	0.562000													19	87					0	0	0.000958276	0	0
C9	735	broad.mit.edu	37	5	39285317	39285317	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:39285317A>T	ENST00000263408.4	-	11	1759	c.1664T>A	c.(1663-1665)tTc>tAc	p.F555Y		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	555					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCATTGGGGAACTCTAGGGC	0.418000													6	34					0	0	0.000274275	0	0
TKTL1	8277	broad.mit.edu	37	X	153543534	153543534	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153543534G>A	ENST00000369915.3	+	7	1065	c.876G>A	c.(874-876)cgG>cgA	p.R292R	TKTL1_ENST00000369912.2_Silent_p.R236R|TKTL1_ENST00000217905.7_Silent_p.R32R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	292					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					TAGCTACTCGGAAAGCATGCG	0.458000													31	40					0	0	0.0024448	0	0
RBM47	54502	broad.mit.edu	37	4	40439833	40439833	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:40439833G>A	ENST00000319592.4	-	4	1787	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	RBM47_ENST00000381793.2_Missense_Mutation_p.P360S|RBM47_ENST00000514014.1_Missense_Mutation_p.P322S|RBM47_ENST00000295971.7_Missense_Mutation_p.P360S|RBM47_ENST00000381795.6_Missense_Mutation_p.P360S|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	360						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCGTTGTAGGGGTAGCCGTAG	0.637000													6	27					0	0	0.00116845	0	0
GPR97	222487	broad.mit.edu	37	16	57713196	57713196	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:57713196C>T	ENST00000333493.4	+	5	761	c.600C>T	c.(598-600)atC>atT	p.I200I	GPR97_ENST00000450388.3_Silent_p.I80I|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	200					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCTGGAGATCGTCTTCTCTC	0.647000													28	47					0	0	0.000491102	0	0
BSN	8927	broad.mit.edu	37	3	49698922	49698922	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:49698922C>T	ENST00000296452.4	+	6	9758	c.9644C>T	c.(9643-9645)cCc>cTc	p.P3215L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3215					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCACCTACCCCTCTGACTCA	0.587000													37	94					0	0	0.000953801	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904664	84904664	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:84904664G>A	ENST00000403245.3	-	10	1079	c.965C>T	c.(964-966)tCa>tTa	p.S322L	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S246L	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	322					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACCTTTCACTGAGCTCTTGAT	0.333000													18	39					0	0	0.000958276	0	0
CCDC80	151887	broad.mit.edu	37	3	112337925	112337925	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:112337925C>T	ENST00000206423.3	-	4	3015	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D688N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	688										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTTCATCATCCACCACTCGC	0.458000													7	36					0	0	0.000157383	0	0
KLHDC3	116138	broad.mit.edu	37	6	42987057	42987057	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:42987057C>T	ENST00000326974.4	+	10	1230	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A	KLHDC3_ENST00000332245.8_Silent_p.A286A|KLHDC3_ENST00000244670.8_Silent_p.A211A	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	345					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAAACTGGCCGTGATTCAGT	0.498000													171	216					0	0	0.000781405	0	0
PKN2	5586	broad.mit.edu	37	1	89279410	89279410	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:89279410G>A	ENST00000370521.3	+	16	2632	c.2273G>A	c.(2272-2274)aGa>aAa	p.R758K	PKN2_ENST00000544045.1_Missense_Mutation_p.R432K|PKN2_ENST00000370505.3_Missense_Mutation_p.R601K|PKN2_ENST00000370513.5_Missense_Mutation_p.R710K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	758	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTGAACCAAGAGCTGTGTGA	0.378000													68	149					0	0	0.000781405	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286953	84286953	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:84286953G>A	ENST00000324537.5	+	12	1474	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.E328K|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.E320K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	320	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.E328K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCAAATAGATGAAAACTGGTA	0.408000													12	58					0	0	0.000978159	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866140	131866140	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:131866140C>T	ENST00000359827.3	-	18	4454	c.3492_splice	c.e18+1	p.K1164_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.K1164_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	1164	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACTCCACCTTTAGGATGA	0.567000													42	121					0	0	0.000781405	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466008	160466008	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:160466008G>A	ENST00000368059.3	-	2	294	c.225C>T	c.(223-225)atC>atT	p.I75I	SLAMF6_ENST00000368057.3_Silent_p.I75I|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	75						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAGTCACGTGGATTTCTGGAC	0.468000													23	59					0	0	0.00229938	0	0
SSPO	23145	broad.mit.edu	37	7	149492727	149492727	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:149492727C>T	ENST00000378016.2	+	0	6507							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCGTGACCTCCTGCCTGGCA	0.592000													65	182					0	0	0.000781405	0	0
PRPS2	5634	broad.mit.edu	37	X	12838834	12838834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:12838834C>T	ENST00000380668.5	+	6	904	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PRPS2_ENST00000398491.2_Missense_Mutation_p.S262F	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	259					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CCAGCTATTTCCAGAATAAAT	0.438000													21	41					0	0	0.00229938	0	0
ASTN1	460	broad.mit.edu	37	1	176992672	176992672	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:176992672C>T	ENST00000367654.2	-	7	1319	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D436N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D436N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D436N			O14525	ASTN1_HUMAN	astrotactin 1	436					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACTGGCATCCAGCTGGCTC	0.607000													7	21					0	0	0.000157383	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136225	92136225	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:92136225G>A	ENST00000256343.3	-	14	1376	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	407					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAGAGAATGATGAAGGAAA	0.413000													17	32					0	0	0.000422831	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077105	144077105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:144077105C>T	ENST00000056217.5	+	15	4924	c.4750C>T	c.(4750-4752)Cga>Tga	p.R1584*	ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R506*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1584					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGAAGCTCATCGAGTCAAGAC	0.547000													15	106					0	0	0.000566183	0	0
CDRT1	374286	broad.mit.edu	37	17	15517312	15517312	+	Missense_Mutation	SNP	C	C	T	rs113130850		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:15517312C>T	ENST00000455584.2	-	9	1679	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	CDRT1_ENST00000395906.3_Missense_Mutation_p.E236K																							CTATTCATTTCGGATATACAC	0.483000													42	79					0	0	0.000680045	0	0
MSR1	4481	broad.mit.edu	37	8	16001091	16001091	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:16001091C>T	ENST00000350896.3	-	8	1206	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	MSR1_ENST00000262101.5_Missense_Mutation_p.E337K|MSR1_ENST00000445506.2_Missense_Mutation_p.E355K|MSR1_ENST00000381998.4_Missense_Mutation_p.E337K|MSR1_ENST00000355282.2_Missense_Mutation_p.E337K|MSR1_ENST00000536385.1_Missense_Mutation_p.E111K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	400	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCCCTTTTCCCCTTTCTGG	0.348000													14	40					0	0	0.000422831	0	0
DDI2	84301	broad.mit.edu	37	1	15978366	15978366	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:15978366C>T	ENST00000480945.1	+	8	1330	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	387					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCAGAAGCCCTTCAAAAATC	0.512000													21	51					0	0	0.000586117	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645168	100645168	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:100645168C>T	ENST00000471714.1	-	2	367	c.258G>A	c.(256-258)ggG>ggA	p.G86G	ABI3BP_ENST00000495063.1_Silent_p.G86G|ABI3BP_ENST00000284322.5_Silent_p.G86G|ABI3BP_ENST00000532144.1_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	86						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGAATTTCCCTTCAGCGG	0.473000													19	24					0	0	0.00229938	0	0
C6	729	broad.mit.edu	37	5	41201710	41201710	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:41201710G>A	ENST00000263413.3	-	3	514	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	C6_ENST00000337836.5_Silent_p.L84L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	84	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAATCTCCCAGGAGGCAGTTG	0.443000													5	17					0	0	0.000602214	0	0
FAT3	120114	broad.mit.edu	37	11	92085335	92085335	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92085335C>T	ENST00000298047.6	+	1	74	c.57C>T	c.(55-57)atC>atT	p.I19I	FAT3_ENST00000409404.2_Silent_p.I19I|FAT3_ENST00000541502.1_Silent_p.I19I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	19					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)				GTTGCCTCATCCTCCTGCTTT	0.507000										TCGA Ovarian(4;0.039)			93	218					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	G	A	rs146418495		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:48619044G>A	ENST00000328333.8	-	49	4851	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1582S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1582	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCTCCAGGAAGAACCAAG	0.567000													21	77					0	0	0.00047179	0	0
SCN10A	6336	broad.mit.edu	37	3	38763776	38763776	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38763776G>A	ENST00000449082.2	-	19	3479	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1160					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGGATCATGAAGATGATGA	0.537000													13	76					0	0	0.00074312	0	0
CLIP4	79745	broad.mit.edu	37	2	29404519	29404519	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:29404519G>A	ENST00000320081.5	+	16	2133	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G	CLIP4_ENST00000404424.1_Silent_p.G626G|CLIP4_ENST00000401617.2_Silent_p.G519G|CLIP4_ENST00000481628.1_3'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	626										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGCACGAGGGGTCTCAGGTCC	0.567000													11	57					0	0	0.000978159	0	0
PNMA1	9240	broad.mit.edu	37	14	74179852	74179852	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:74179852A>T	ENST00000316836.3	-	1	1276	c.491T>A	c.(490-492)tTc>tAc	p.F164Y		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	164					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cctccccgagaaaagtgtcag	0.512000													12	76					0	0	0.00185496	0	0
CACNG3	10368	broad.mit.edu	37	16	24372881	24372881	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:24372881C>T	ENST00000005284.3	+	4	1847	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	215					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACTCGGAGTTCCTGAAGAAAT	0.522000													16	30					0	0	0.000308642	0	0
ERC2	26059	broad.mit.edu	37	3	56469002	56469002	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:56469002C>T	ENST00000288221.6	-	2	289	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	12						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGCTACCTTCCAGATTGGTG	0.458000													8	30					0	0	0.000274275	0	0
SCGB3A2	117156	broad.mit.edu	37	5	147261022	147261022	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:147261022C>T	ENST00000296694.4	+	2	162	c.69C>T	c.(67-69)ctC>ctT	p.L23L	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_5'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	23						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCTTCCTCATCAACAAAG	0.468000													14	63					0	0	0.000308642	0	0
SH2D4B	387694	broad.mit.edu	37	10	82330031	82330031	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:82330031G>A	ENST00000339284.2	+	2	736	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SH2D4B_ENST00000470604.2_Silent_p.E101E|SH2D4B_ENST00000313455.4_Silent_p.E53E	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	101	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGATTGCAGAGAGGGCGCGGC	0.607000													21	77					0	0	0.00188189	0	0
ZGPAT	84619	broad.mit.edu	37	20	62365021	62365021	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:62365021C>T	ENST00000328969.5	+	4	928	c.801C>T	c.(799-801)ccC>ccT	p.P267P	ZGPAT_ENST00000369967.3_Silent_p.P267P|ZGPAT_ENST00000355969.6_Silent_p.P267P|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.P267P|ZGPAT_ENST00000357119.4_Silent_p.P267P	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	267					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCATCCTGCCCCCACTGCGCA	0.637000													47	74					0	0	0.000781405	0	0
OR2M5	127059	broad.mit.edu	37	1	248308965	248308965	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:248308965G>A	ENST00000366476.1	+	1	516	c.516G>A	c.(514-516)cgG>cgA	p.R172R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTGGGTCTCGGGAAATAGCCC	0.428000													17	132					0	0	0.00152264	0	0
QSOX1	5768	broad.mit.edu	37	1	180151428	180151428	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180151428G>A	ENST00000367602.3	+	6	800	c.726G>A	c.(724-726)cgG>cgA	p.R242R	QSOX1_ENST00000367600.5_Silent_p.R242R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	242					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGTTCCGGAATGGCTCTG	0.602000													53	108					0	0	0.000781405	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716994	222716994	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:222716994G>A	ENST00000343410.6	-	2	917	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R287C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TAGAACTTGCGATTGTGGCGG	0.473000													67	432					0	0	0.000781405	0	0
OR6C4	341418	broad.mit.edu	37	12	55945146	55945146	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:55945146C>T	ENST00000394256.2	+	1	164	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TATTATCACCCTCACCTTACT	0.418000													30	57					0	0	0.000692331	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694974	26694974	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:26694974C>T	ENST00000529632.2	+	5	1383	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	SEZ6L_ENST00000248933.6_Missense_Mutation_p.P396L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P396L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P396L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P169L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P169L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P396L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	396	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAACTTTCCCCGCCGGCCT	0.592000													15	45					0	0	0.000958276	0	0
TRPM7	54822	broad.mit.edu	37	15	50902009	50902009	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50902009G>A	ENST00000313478.7	-	18	2711	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	TRPM7_ENST00000560955.1_Silent_p.I810I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	810					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTACCATGGGGATCTCTTCTG	0.313000													8	78					0	0	0.000442599	0	0
PCDH15	65217	broad.mit.edu	37	10	55568855	55568855	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:55568855C>T	ENST00000395445.1	-	36	5349	c.4955G>A	c.(4954-4956)gGa>gAa	p.G1652E	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.G848E|PCDH15_ENST00000395440.1_Missense_Mutation_p.G586E|PCDH15_ENST00000395442.1_Missense_Mutation_p.G517E	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTTTTTCTCCTTCTGACTC	0.478000										HNSCC(58;0.16)			7	32					0	0	0.000157383	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672504	141672504	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:141672504G>A	ENST00000547270.1	-	1	1069	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	329					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGTGTCCGGGAATCTGCCTT	0.478000													12	40					0	0	0.000566183	0	0
STRADB	55437	broad.mit.edu	37	2	202340374	202340374	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:202340374C>T	ENST00000194530.3	+	7	822	c.457C>T	c.(457-459)Cct>Tct	p.P153S	STRADB_ENST00000392249.2_Missense_Mutation_p.P153S	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	153	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GACCTATTTTCCTGAAGGAAT	0.378000													68	154					0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228554256	228554256	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:228554256G>A	ENST00000570156.2	+	95	22277	c.22203G>A	c.(22201-22203)ctG>ctA	p.L7401L	OBSCN_ENST00000422127.1_Silent_p.L6444L|OBSCN_ENST00000366707.4_Silent_p.L4078L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6444					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCAGAGCTGCTGGTGCTTG	0.637000													10	54					0	0	0.000978159	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030492	10030492	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10030492G>A	ENST00000378380.3	+	6	1604	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.K425K|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AAAAAGGAAAGAAAGGGAAAT	0.413000													25	54					0	0	0.000720815	0	0
JAG1	182	broad.mit.edu	37	20	10653563	10653563	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:10653563G>A	ENST00000254958.5	-	2	688	c.173C>T	c.(172-174)gCc>gTc	p.A58V		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	58					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CGGGTTCCGGGCGCCGCCGCA	0.657000									Alagille Syndrome				21	40					0	0	0.00188189	0	0
EP400	57634	broad.mit.edu	37	12	132445388	132445388	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:132445388C>T	ENST00000333577.4	+	2	333	c.224C>T	c.(223-225)aCc>aTc	p.T75I	EP400_ENST00000389561.2_Missense_Mutation_p.T75I|EP400_ENST00000389562.2_Missense_Mutation_p.T75I|EP400_ENST00000332482.4_Missense_Mutation_p.T75I|EP400_ENST00000330386.6_Missense_Mutation_p.T75I			Q96L91	EP400_HUMAN	E1A binding protein p400	75					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTGAACATCACCCTGCAGAGC	0.622000													34	50					0	0	0.00148497	0	0
CUL9	23113	broad.mit.edu	37	6	43168245	43168245	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:43168245C>T	ENST00000252050.4	+	15	3540	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	CUL9_ENST00000354495.3_Silent_p.F1042F|CUL9_ENST00000372647.2_Silent_p.F1152F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1152	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTGATGTGTTCCTCAGGCATC	0.547000													23	41					0	0	0.00127121	0	0
EFCAB6	64800	broad.mit.edu	37	22	44127612	44127612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:44127612C>T	ENST00000262726.7	-	8	977	c.724G>A	c.(724-726)Gac>Aac	p.D242N	EFCAB6_ENST00000356087.4_Missense_Mutation_p.D136N|EFCAB6_ENST00000358439.4_Missense_Mutation_p.D136N|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D90N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGTTCAAGTCGTTATTTATG	0.308000													25	81					0	0	0.000878237	0	0
DSC1	1823	broad.mit.edu	37	18	28739444	28739444	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:28739444G>A	ENST00000257197.3	-	2	373	c.112C>T	c.(112-114)Cct>Tct	p.P38S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P38S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	38					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGATGAGAAGGAACTCGAAGA	0.338000													8	106					0	0	0.000274275	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959564	45959564	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:45959564G>A	ENST00000400375.1	-	1	514	c.470C>T	c.(469-471)tCt>tTt	p.S157F	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	157	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGAATCCTCAGAGCAGGTGGG	0.612000													12	94					0	0	0.000978159	0	0
ZAK	51776	broad.mit.edu	37	2	174131192	174131192	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:174131192C>T	ENST00000375213.3	+	20	2195	c.2117C>T	c.(2116-2118)tCa>tTa	p.S706L	MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S706L	NM_016653.2	NP_057737.2																					TCCACTCCTTCAAGAGGAAGA	0.473000													9	33					0	0	0.000442599	0	0
MME	4311	broad.mit.edu	37	3	154886520	154886520	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:154886520G>A	ENST00000460393.1	+	20	2034		c.e20-1		MME_ENST00000462745.1_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME_ENST00000493237.1_Splice_Site|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Splice_Site	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase						cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTTTAACAGCTTAATGGAA	0.299000													13	58					0	0	0.00185496	0	0
MYF5	4617	broad.mit.edu	37	12	81112737	81112737	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:81112737G>C	ENST00000228644.3	+	3	827	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	225					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCTCTCCAGGATCTGGCTT	0.483000													32	42					0	0	0.0024448	0	0
FBXL19	54620	broad.mit.edu	37	16	30958239	30958239	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:30958239C>T	ENST00000338343.4	+	10	2203	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	FBXL19_ENST00000380310.2_Missense_Mutation_p.R626C|FBXL19_ENST00000562319.1_Missense_Mutation_p.R606C|FBXL19_ENST00000471231.2_Missense_Mutation_p.R314C|FBXL19_ENST00000565690.1_Missense_Mutation_p.R490C			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	626							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GTCCCCACTCCGCGAGACCCT	0.687000													7	18					0	0	0.000274275	0	0
HMCN1	83872	broad.mit.edu	37	1	185987463	185987463	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:185987463G>A	ENST00000271588.4	+	34	5678	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1817K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1817	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAAGAAGGAATTTGAAGT	0.388000													17	48					0	0	0.00074312	0	0
WRN	7486	broad.mit.edu	37	8	30916728	30916728	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30916728C>T	ENST00000298139.5	+	3	405	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	52	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCACTGGATCCATTGTGTATA	0.363000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				18	154					0	0	0.00188189	0	0
COL6A5	256076	broad.mit.edu	37	3	130095440	130095440	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130095440C>T	ENST00000265379.6	+	3	922	c.428C>T	c.(427-429)tCg>tTg	p.S143L	COL6A5_ENST00000432398.2_Missense_Mutation_p.S143L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	143	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTCCTGGCTTCGGCTGAGTCT	0.502000													4	6					0	0	0.00024832	0	0
LAMA1	284217	broad.mit.edu	37	18	7002281	7002281	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:7002281G>A	ENST00000389658.3	-	30	4457	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1455	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGCTGTGAGGACAGGCACA	0.577000													17	38					0	0	0.000422831	0	0
CFHR2	3080	broad.mit.edu	37	1	196918726	196918726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:196918726G>A	ENST00000367415.4	+	2	314	c.200G>A	c.(199-201)tGg>tAg	p.W67*	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.W67*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	67	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAATCCTTTTGGACTCGCATA	0.383000													11	25					0	0	0.000978159	0	0
CEP250	11190	broad.mit.edu	37	20	34092342	34092342	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:34092342G>A	ENST00000397527.1	+	30	6865	c.6145G>A	c.(6145-6147)Gaa>Aaa	p.E2049K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1993K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2049	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGAGGGATGAAGAGCTGAG	0.562000													11	40					0	0	0.00136819	0	0
GAN	8139	broad.mit.edu	37	16	81398669	81398669	+	Missense_Mutation	SNP	C	C	T	rs150043237	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:81398669C>T	ENST00000248272.3	+	8	1489	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	443					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GTGTTATGATCCCAGGACCCA	0.502000													14	18					0	0	0.000219431	0	0
ENTPD1	953	broad.mit.edu	37	10	97607227	97607227	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:97607227G>A	ENST00000371203.5	+	6	1011	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.D172N|ENTPD1_ENST00000539125.1_Missense_Mutation_p.D142N|ENTPD1_ENST00000453258.2_Missense_Mutation_p.D287N|ENTPD1_ENST00000371205.4_Missense_Mutation_p.D280N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.D292N	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	280					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AATTCTCAGGGACCCATGCTT	0.408000													11	38					0	0	0.000978159	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:15874796C>T	ENST00000375847.3	+	7	1060	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_ENST00000375838.1_Missense_Mutation_p.S299L|DNAJC16_ENST00000375849.1_Missense_Mutation_p.S299L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000													21	41					0	0	0.00188189	0	0
OR51S1	119692	broad.mit.edu	37	11	4870287	4870287	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4870287C>T	ENST00000322101.2	-	1	227	c.152G>A	c.(151-153)gGc>gAc	p.G51D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGATGGTGCCATTTCCCAG	0.567000													10	50					0	0	0.000978159	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468854	241468854	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:241468854G>A	ENST00000391987.1	-	5	652	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.L96L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Silent_p.L185L|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	96							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)		CGGAACCACAGCCCCACGTCC	0.607000													12	17					0	0	0.000978159	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560960	44560960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:44560960C>T	ENST00000332567.4	-	1	1028	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	226					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GATTTGTGCCCCTTGCTGTGG	0.622000													8	22					0	0	0.000274275	0	0
TUSC3	7991	broad.mit.edu	37	8	15517052	15517052	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:15517052C>T	ENST00000382020.4	+	4	671	c.463C>T	c.(463-465)Cct>Tct	p.P155S	TUSC3_ENST00000506802.1_Missense_Mutation_p.P155S|TUSC3_ENST00000503731.1_Missense_Mutation_p.P155S|TUSC3_ENST00000509380.1_Missense_Mutation_p.P155S|TUSC3_ENST00000503191.1_3'UTR	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	155					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CATGCATTTTCCTCCAAAAGG	0.368000													16	38					0	0	0.000422831	0	0
NLRC4	58484	broad.mit.edu	37	2	32474890	32474890	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32474890C>T	ENST00000404025.2	-	5	2531	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	NLRC4_ENST00000360906.5_Silent_p.G681G|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.G681G			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	681					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATATTTTCCCCAGATATC	0.458000													18	87					0	0	0.000958276	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745789	135745789	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:135745789C>T	ENST00000375845.3	-	7	683	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R235Q|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R105Q|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GACACCAGATCGCGTGGGCAA	0.403000													51	212					0	0	0.000781405	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412144	23412144	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:23412144C>T	ENST00000379361.4	+	3	3369	c.2509C>T	c.(2509-2511)Cac>Tac	p.H837Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	837					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACCTTCTTTCACTGCTTTGC	0.418000													15	30					0	0	0.000422831	0	0
PLCD4	84812	broad.mit.edu	37	2	219494318	219494318	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:219494318G>A	ENST00000450993.2	+	8	1390	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	PLCD4_ENST00000432688.1_Missense_Mutation_p.G351R|PLCD4_ENST00000417849.1_Missense_Mutation_p.G351R	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	351	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGTTTACCACGGACACACCCT	0.607000													13	35					0	0	0.00136819	0	0
GABRP	2568	broad.mit.edu	37	5	170232728	170232728	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:170232728G>A	ENST00000518525.1	+	8	1014	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GABRP_ENST00000519385.1_Missense_Mutation_p.D184N|GABRP_ENST00000265294.4_Missense_Mutation_p.D184N|GABRP_ENST00000519598.1_Missense_Mutation_p.D184N			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	184						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGGCTATGATGGAAATGA	0.502000													5	27					0	0	0.000602214	0	0
ELP5	23587	broad.mit.edu	37	17	7161984	7161984	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7161984C>T	ENST00000574993.1	+	6	934	c.717C>T	c.(715-717)tcC>tcT	p.S239S	ELP5_ENST00000354429.2_Silent_p.S239S|ELP5_ENST00000396628.2_Silent_p.S239S|ELP5_ENST00000396627.2_Silent_p.S239S|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Silent_p.S239S					elongator acetyltransferase complex subunit 5																		AGCCCTACTCCGATCCTCATA	0.488000													61	85					0	0	0.000781405	0	0
SLIT1	6585	broad.mit.edu	37	10	98817007	98817007	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98817007G>A	ENST00000266058.4	-	12	1362	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	SLIT1_ENST00000371070.4_Missense_Mutation_p.P373S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	373					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACACCACGGGGGAGGTCTGTG	0.567000													5	32					0	0	0.00116845	0	0
HTRA4	203100	broad.mit.edu	37	8	38834132	38834132	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:38834132C>A	ENST00000302495.4	+	3	745	c.645C>A	c.(643-645)acC>acA	p.T215T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	215	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TCATTATTACCAATGCCCATG	0.493000													6	85					0.000157383	0.000698722	0.000157383	1	0
FLRT3	23767	broad.mit.edu	37	20	14307645	14307645	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:14307645G>A	ENST00000378053.3	-	2	764	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P170S|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	170					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAACCCCAGGGAATTGTGCTA	0.458000													17	50					0	0	0.00074312	0	0
CKAP2	26586	broad.mit.edu	37	13	53035666	53035666	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:53035666G>A	ENST00000378037.5	+	4	798	c.708G>A	c.(706-708)atG>atA	p.M236I	CKAP2_ENST00000378034.3_Missense_Mutation_p.M235I|CKAP2_ENST00000258607.5_Missense_Mutation_p.M235I|CKAP2_ENST00000490903.1_Missense_Mutation_p.M187I	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	236			M -> K (in dbSNP:rs35975899).		apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCTCCAATATGACTGCCACTA	0.423000													10	38					0	0	0.000978159	0	0
MLC1	23209	broad.mit.edu	37	22	50512717	50512717	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50512717G>A	ENST00000311597.5	-	8	1248	c.642C>T	c.(640-642)atC>atT	p.I214I	MLC1_ENST00000395876.2_Silent_p.I214I|MLC1_ENST00000431262.2_Silent_p.I184I|MLC1_ENST00000450140.2_Silent_p.I162I|MLC1_ENST00000538737.1_Silent_p.I180I|MLC1_ENST00000535444.1_Silent_p.I135I	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	214						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCAGGGCAATGATCCCCCCGA	0.602000													13	32					0	0	0.000219431	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040583	102040583	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:102040583C>T	ENST00000549145.1	+	12	1072	c.972C>T	c.(970-972)atC>atT	p.I324I	MYBPC1_ENST00000547509.1_Silent_p.I297I|MYBPC1_ENST00000536007.1_Silent_p.I292I|MYBPC1_ENST00000550270.1_Silent_p.I311I|MYBPC1_ENST00000392934.3_Silent_p.I298I|MYBPC1_ENST00000541119.1_Silent_p.I299I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000361685.2_Silent_p.I336I|MYBPC1_ENST00000452455.2_Silent_p.I311I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.I311I|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Silent_p.I212I|MYBPC1_ENST00000553190.1_Silent_p.I311I|MYBPC1_ENST00000547405.1_Silent_p.I285I|MYBPC1_ENST00000545503.2_Silent_p.I311I|MYBPC1_ENST00000360610.2_Silent_p.I311I|MYBPC1_ENST00000361466.2_Silent_p.I336I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	311	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCTGTTTATCAATAACTGTC	0.348000													32	36					0	0	0.000491102	0	0
BPIFC	254240	broad.mit.edu	37	22	32831715	32831715	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:32831715G>A	ENST00000397452.1	-	9	1010	c.900C>T	c.(898-900)ttC>ttT	p.F300F	BPIFC_ENST00000534972.1_Silent_p.F24F|BPIFC_ENST00000300399.3_Silent_p.F300F|BPIFC_ENST00000432451.2_Silent_p.F114F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	300						extracellular region	lipopolysaccharide binding|phospholipid binding										GAGTGACATTGAAAACCCCAG	0.433000													8	50					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179413186	179413186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179413186C>T	ENST00000589042.1	-	339	93391	c.93167G>A	c.(93166-93168)cGa>cAa	p.R31056Q	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21991Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28488Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22183Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22116Q|TTN_ENST00000591111.1_Missense_Mutation_p.R29415Q|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29415							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)			ACTTGCCTCTCGTTTCTCTAC	0.493000													29	90					0	0	0.00106085	0	0
AOC2	314	broad.mit.edu	37	17	40996824	40996824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40996824C>T	ENST00000253799.3	+	1	208	c.181C>T	c.(181-183)Cga>Tga	p.R61*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.R61*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	61					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGACCTGAGCCGAGAGGAGTT	0.657000													111	152					0	0	0.000781405	0	0
NOC2L	26155	broad.mit.edu	37	1	892521	892521	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:892521C>T	ENST00000327044.6	-	3	361	c.312G>A	c.(310-312)gaG>gaA	p.E104E	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	104	Poly-Glu.					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTCTTCCTCCTCAGAGCTGT	0.587000													48	178					0	0	0.000781405	0	0
RP1L1	94137	broad.mit.edu	37	8	10470209	10470209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:10470209G>A	ENST00000382483.3	-	4	1622	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	467					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGACTCTGGCTCCGAGCCC	0.716000													33	68					0	0	0.00148497	0	0
PPIG	9360	broad.mit.edu	37	2	170492625	170492625	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:170492625C>T	ENST00000260970.3	+	13	1261	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	PPIG_ENST00000448752.2_Silent_p.S347S|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Silent_p.S332S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	347					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTTCCAGATCCAGATCAAGGG	0.443000													20	43					0	0	0.000586117	0	0
SP100	6672	broad.mit.edu	37	2	231380145	231380145	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231380145C>T	ENST00000264052.5	+	25	2785	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	810					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.T810T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAATAACACCGCTGCAGCTG	0.428000													13	37					0	0	0.000219431	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:20496630G>A	ENST00000555186.1	+	0	683					NR_038836.1																						TCATGAAGGGGAAGCCGAGGG	0.438000													8	98					0	0	0.000442599	0	0
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607000													30	146					0	0	0.000491102	0	0
LINC00207	388910	broad.mit.edu	37	22	44966433	44966433	+	RNA	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:44966433A>C	ENST00000605505.1	+	0	211					NR_028409.1															lung(3)	3						GGATCCAATCACTGAACCAGA	0.483000													14	34					0	0	0.000566183	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													8	44					0	0	0.000274275	0	0
CCDC61	729440	broad.mit.edu	37	19	46498721	46498721	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:46498721C>T	ENST00000263284.2	+	2	119	c.119C>T	c.(118-120)tCg>tTg	p.S40L						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GCTGGAGCTTCGTCAGTTGAA	0.622000													13	14					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179468614	179468614	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:179468614C>T	ENST00000589042.1	-	282	55024	c.54800G>A	c.(54799-54801)gGa>gAa	p.G18267E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9202E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15699E|TTN_ENST00000342175.6_Missense_Mutation_p.G9394E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9327E|TTN_ENST00000591111.1_Missense_Mutation_p.G16626E|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16626	Fibronectin type-III 32.						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)			TATGGGATCTCCTGCAACCTC	0.408000													10	19					0	0	0.000442599	0	0
FBN3	84467	broad.mit.edu	37	19	8193952	8193952	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8193952G>A	ENST00000600128.1	-	18	2670	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	FBN3_ENST00000601739.1_Silent_p.P752P|FBN3_ENST00000270509.2_Silent_p.P752P			Q75N90	FBN3_HUMAN	fibrillin 3	752	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAGCCGGGGGGGCAGGAGC	0.602000													22	77					0	0	0.00188189	0	0
CHST5	23563	broad.mit.edu	37	16	75563795	75563795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:75563795C>T	ENST00000336257.3	-	3	1882	c.488G>A	c.(487-489)gGc>gAc	p.G163D	CHST5_ENST00000541075.1_Missense_Mutation_p.G169D|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	163					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCTGATGGTGCCTCGGGGAAA	0.652000													54	92					0	0	0.000781405	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687498	27687498	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:27687498C>T	ENST00000438700.3	-	4	2146	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	677					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTACAGTTTTCCAGTTTTTGC	0.303000													10	29					0	0	0.000978159	0	0
FGF12	2257	broad.mit.edu	37	3	191888415	191888415	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:191888415C>T	ENST00000454309.2	-	4	1270	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	FGF12_ENST00000450716.1_Missense_Mutation_p.E87K|FGF12_ENST00000264730.3_Missense_Mutation_p.E87K|FGF12_ENST00000445105.1_Missense_Mutation_p.E87K|FGF12_ENST00000430714.1_Missense_Mutation_p.E50K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	149					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.E149K(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AACACAGATTCCTTGAATTTG	0.368000													33	153					0	0	0.000692331	0	0
OR4N2	390429	broad.mit.edu	37	14	20295759	20295759	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20295759C>T	ENST00000315947.1	+	1	152	c.152C>T	c.(151-153)tCa>tTa	p.S51L	OR4N2_ENST00000568211.1_Missense_Mutation_p.S51L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCATAAAGTCAGACCCTGGG	0.468000													31	168					0	0	0.00058488	0	0
C19orf44	84167	broad.mit.edu	37	19	16611602	16611602	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:16611602G>A	ENST00000221671.3	+	2	155		c.e2-1		CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTCCTCCACAGAATGGCTTCT	0.443000													72	179					0	0	0.000781405	0	0
MYH6	4624	broad.mit.edu	37	14	23857379	23857379	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:23857379C>T	ENST00000405093.3	-	30	4414	c.4344G>A	c.(4342-4344)caG>caA	p.Q1448Q	MYH6_ENST00000356287.3_Silent_p.Q1448Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1448					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAAAGTTTCTCTGCTTCTTGT	0.587000													27	131					0	0	0.000878237	0	0
TRPC4	7223	broad.mit.edu	37	13	38320295	38320295	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:38320295C>T	ENST00000379705.3	-	3	1533	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TRPC4_ENST00000358477.2_Missense_Mutation_p.E226K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E226K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E226K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	226					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTGAAGTTCCCAACTTAAC	0.478000													9	21					0	0	0.000274275	0	0
PRSS12	8492	broad.mit.edu	37	4	119203159	119203159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:119203159C>T	ENST00000296498.3	-	13	2842	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	854	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGAATCCTTGACTCCA	0.498000													8	68					0	0	0.000157383	0	0
FOXA2	3170	broad.mit.edu	37	20	22563420	22563420	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:22563420G>A	ENST00000419308.2	-	2	644	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	FOXA2_ENST00000377115.4_Missense_Mutation_p.P148S|FOXA2_ENST00000319993.4_Missense_Mutation_p.P154S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	148					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TAGGTCTTGGGGTCGCGGGCG	0.677000													29	102					0	0	0.000953801	0	0
PDE3A	5139	broad.mit.edu	37	12	20790115	20790115	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:20790115C>T	ENST00000359062.3	+	9	2123	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	695					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGGAATTTTCCAATTTTTGA	0.333000													10	17					0	0	0.00185496	0	0
C7	730	broad.mit.edu	37	5	40936505	40936505	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:40936505G>A	ENST00000313164.9	+	5	705	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	116	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CAGTGCTGATGAAGACAGATG	0.453000													5	20					0	0	0.000602214	0	0
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G	rs148310097	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522000													6	265					0	0	0.00198382	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407442	1407442	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:1407442C>T	ENST00000381524.3	+	5	436	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CSF2RA_ENST00000355432.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R84C|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R84C			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	84						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R84C(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGCACATTTCGTGAAATTTG	0.428000													80	396					0	0	0.000781405	0	0
MUT	4594	broad.mit.edu	37	6	49403246	49403246	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49403246G>A	ENST00000274813.3	-	12	2174	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	683	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAGTTCAGGAACTAGGGTT	0.483000													7	14					0	0	0.00198382	0	0
GSR	2936	broad.mit.edu	37	8	30537136	30537136	+	Silent	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:30537136A>T	ENST00000221130.5	-	13	1560	c.1470T>A	c.(1468-1470)ggT>ggA	p.G490G	GSR_ENST00000537535.1_Silent_p.G408G|GSR_ENST00000414019.1_Silent_p.G447G|GSR_ENST00000541648.1_Silent_p.G437G|GSR_ENST00000546342.1_Silent_p.G461G	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	490					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CAACAGCAAAACCCTGCAGCA	0.443000													10	69					0	0	0.00185496	0	0
WDR86	349136	broad.mit.edu	37	7	151093146	151093146	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151093146G>A	ENST00000334493.6	-	3	872	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	WDR86_ENST00000477459.1_Missense_Mutation_p.P20S|WDR86_ENST00000469830.2_Missense_Mutation_p.P148S	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTCCCACGGGGCAGAGTAG	0.692000													12	20					0	0	0.00185496	0	0
SPEG	10290	broad.mit.edu	37	2	220350134	220350134	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220350134C>T	ENST00000312358.7	+	31	7808	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2559					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGGGGTTATCGCCACCAAAC	0.617000													28	89					0	0	0.00106085	0	0
FAM105A	54491	broad.mit.edu	37	5	14608964	14608964	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:14608964C>T	ENST00000274217.3	+	7	855	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	245										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CTTTAAAGTTCATCATGCTGT	0.358000													7	62					0	0	0.00198382	0	0
CXorf22	170063	broad.mit.edu	37	X	35944269	35944269	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:35944269G>A	ENST00000297866.5	+	2	451	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	129										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						TAAAACAACAGAAATTCCTCT	0.323000													8	11					0	0	0.000157383	0	0
GADL1	339896	broad.mit.edu	37	3	30769839	30769839	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:30769839C>T	ENST00000282538.5	-	15	1611	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	487					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGACCTTTCCCCGGTGCGGCT	0.557000													17	40					0	0	0.00121646	0	0
PARP9	83666	broad.mit.edu	37	3	122271276	122271276	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:122271276G>A	ENST00000462315.1	-	5	1389	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	PARP9_ENST00000360356.2_Missense_Mutation_p.P401S|PARP9_ENST00000477522.2_Missense_Mutation_p.P366S|PARP9_ENST00000471785.1_Missense_Mutation_p.P366S|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	401	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGAGGTTTAGGAAATTCTGAA	0.318000													18	38					0	0	0.00074312	0	0
PSMA4	5685	broad.mit.edu	37	15	78834883	78834883	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78834883G>A	ENST00000044462.7	+	4	255	c.105G>A	c.(103-105)ttG>ttA	p.L35L	PSMA4_ENST00000559082.1_Silent_p.L35L|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000558281.1_Silent_p.L35L|PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000558341.1_Silent_p.L35L|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACCTGTTTGGGAATTTTAG	0.403000													51	213					0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38671899	38671899	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:38671899C>T	ENST00000413689.1	-	3	488	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SCN5A_ENST00000333535.4_Missense_Mutation_p.G99S|SCN5A_ENST00000450102.2_Missense_Mutation_p.G99S|SCN5A_ENST00000423572.2_Missense_Mutation_p.G99S|SCN5A_ENST00000425664.1_Missense_Mutation_p.G99S|SCN5A_ENST00000414099.2_Missense_Mutation_p.G99S|SCN5A_ENST00000455624.2_Missense_Mutation_p.G99S|SCN5A_ENST00000451551.2_Missense_Mutation_p.G99S|SCN5A_ENST00000449557.2_Missense_Mutation_p.G99S|SCN5A_ENST00000443581.1_Missense_Mutation_p.G99S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	99					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGGTCTTGCCTTTATTCAGT	0.522000													38	123					0	0	0.000781405	0	0
ERCC3	2071	broad.mit.edu	37	2	128051098	128051098	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:128051098G>A	ENST00000493187.2	-	2	496	c.33C>T	c.(31-33)ccC>ccT	p.P11P	ERCC3_ENST00000285398.2_Silent_p.P75P			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	75					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCACCCAGAGGGGCCTGGAGG	0.577000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	27					0	0	0.00121646	0	0
NRK	203447	broad.mit.edu	37	X	105179275	105179275	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:105179275G>A	ENST00000428173.2	+	21	3919	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K	NRK_ENST00000243300.9_Missense_Mutation_p.E1205K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1205							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCACATGTATGAAAAGGAGTT	0.383000										HNSCC(51;0.14)			5	13					0	0	0.000602214	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:51025846G>A	ENST00000442544.2	+	27	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_ENST00000581580.1_Silent_p.P992P|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000													16	68					0	0	0.00152264	0	0
CLMN	79789	broad.mit.edu	37	14	95670379	95670379	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95670379G>A	ENST00000298912.4	-	9	1420	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	436						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACTGCAGAAAGGATCCTTGTA	0.478000													23	83					0	0	0.000586117	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362121	99362121	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:99362121G>A	ENST00000376503.5	-	12	1000	c.945_splice	c.e12+1	p.I315_splice		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	315					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCAAACTTACGATTTTCCCGG	0.378000													18	61					0	0	0.00229938	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685101	84685101	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:84685101G>A	ENST00000284136.6	-	7	836	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	SEMA3D_ENST00000444867.1_Missense_Mutation_p.R265C	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	265	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATGATTCACGAAAGAAGAAA	0.318000													21	64					0	0	0.00188189	0	0
MYLK3	91807	broad.mit.edu	37	16	46781861	46781861	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:46781861G>A	ENST00000394809.4	-	1	360	c.245C>T	c.(244-246)cCc>cTc	p.P82L	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	82					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCAATGTGGGGAACCCCATC	0.706000													10	11					0	0	0.000673444	0	0
CCR5	1234	broad.mit.edu	37	3	46415098	46415098	+	Silent	SNP	G	G	A	rs147615392		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46415098G>A	ENST00000343801.4	+	3	1062	c.705G>A	c.(703-705)agG>agA	p.R235R	CCR5_ENST00000445772.1_Silent_p.R235R|CCR5_ENST00000292303.4_Silent_p.R235R|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	235					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GGGCTGTGAGGCTTATCTTCA	0.473000													102	186					0	0	0.000781405	0	0
USP8	9101	broad.mit.edu	37	15	50782635	50782635	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:50782635C>T	ENST00000433963.1	+	15	2647	c.2147C>T	c.(2146-2148)tCc>tTc	p.S716F	USP8_ENST00000396444.3_Missense_Mutation_p.S716F|USP8_ENST00000307179.4_Missense_Mutation_p.S716F|USP8_ENST00000425032.3_Missense_Mutation_p.S610F	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	716					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGAAGCGCTCCTACTCCTCC	0.483000													19	65					0	0	0.000586117	0	0
RBMS1	5937	broad.mit.edu	37	2	161143583	161143583	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:161143583G>A	ENST00000348849.3	-	7	1083	c.653C>T	c.(652-654)cCt>cTt	p.P218L	RBMS1_ENST00000409972.1_Missense_Mutation_p.P185L|RBMS1_ENST00000409289.2_Missense_Mutation_p.P185L|RBMS1_ENST00000409075.1_Missense_Mutation_p.P185L|RBMS1_ENST00000392753.3_Missense_Mutation_p.P218L|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	218	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								ACACAATAAAGGTTCTGTGGG	0.373000													22	152					0	0	0.000586117	0	0
SP100	6672	broad.mit.edu	37	2	231379974	231379974	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:231379974C>T	ENST00000264052.5	+	25	2614	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	753					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTATATCCCTCCTAAAG	0.423000													6	35					0	0	0.00116845	0	0
KRT7	3855	broad.mit.edu	37	12	52642480	52642480	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:52642480C>T	ENST00000331817.5	+	9	1529	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	449	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGTGCGGGTCCTGGGCTCCTG	0.647000													25	28					0	0	0.000720815	0	0
HCFC1	3054	broad.mit.edu	37	X	153219121	153219121	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:153219121G>A	ENST00000310441.7	-	18	5400	c.4434C>T	c.(4432-4434)tcC>tcT	p.S1478S	HCFC1_ENST00000369984.4_Silent_p.S1478S|HCFC1_ENST00000354233.3_Silent_p.S1409S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1478					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGTCAGTGTGGAGGACACGG	0.672000													20	18					0	0	0.00188189	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883993	228883993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228883993G>A	ENST00000392056.3	-	7	1623	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S526L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGAAAGTTCGAGACCACTTG	0.502000													12	44					0	0	0.00136819	0	0
SSTR1	6751	broad.mit.edu	37	14	38679758	38679758	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:38679758C>T	ENST00000267377.2	+	3	1781	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	388					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGTCCCGGATCACGACGCTCT	0.667000													5	26					0	0	0.00116845	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558927	140558927	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140558927A>G	ENST00000239444.2	+	1	1557	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		438	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCTCAATATGACCGTGCT	0.552000													21	376					0	0	0.000375601	0	0
MYO15A	51168	broad.mit.edu	37	17	18040901	18040901	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:18040901C>T	ENST00000205890.5	+	16	5121	c.4783C>T	c.(4783-4785)Ctg>Ttg	p.L1595L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1595	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)					CTGGCAGGACCTGAGCTTCAA	0.542000													17	23					0	0	0.00121646	0	0
GATA1	2623	broad.mit.edu	37	X	48650317	48650317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:48650317G>A	ENST00000376670.3	+	3	398	c.287G>A	c.(286-288)tGg>tAg	p.W96*	GATA1_ENST00000376665.3_Nonsense_Mutation_p.W96*	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	96					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TATGCCGGCTGGGCCTACGGC	0.602000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								6	9					0	0	0.00116845	0	0
LHX9	56956	broad.mit.edu	37	1	197889116	197889116	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:197889116C>T	ENST00000367390.3	+	3	189	c.162C>T	c.(160-162)ctC>ctT	p.L54L	LHX9_ENST00000337020.2_Silent_p.L63L|LHX9_ENST00000561173.1_Silent_p.L69L|LHX9_ENST00000367391.1_Silent_p.L54L|LHX9_ENST00000367387.4_Silent_p.L63L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	63					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCCCCCGCTCAGCCCGGAGA	0.662000													51	95					0	0	0.000781405	0	0
KIF13B	23303	broad.mit.edu	37	8	28950352	28950352	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:28950352G>A	ENST00000524189.1	-	37	4406	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1456					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCGGCACGAAGGATTTGACAG	0.478000													4	21					0	0	0.000602214	0	0
CCR1	1230	broad.mit.edu	37	3	46244938	46244938	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:46244938G>A	ENST00000296140.3	-	2	992	c.867C>T	c.(865-867)atC>atT	p.I289I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	289					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCGTGTAGGCGATCACCTCCG	0.522000													7	17					0	0	0.000274275	0	0
NPAS4	266743	broad.mit.edu	37	11	66192547	66192547	+	Missense_Mutation	SNP	G	G	A	rs148679589		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:66192547G>A	ENST00000311034.2	+	7	2362	c.2186G>A	c.(2185-2187)gGg>gAg	p.G729E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	729					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGGGCTCAGGGGATCCTGAG	0.582000													18	39					0	0	0.00121646	0	0
TCOF1	6949	broad.mit.edu	37	5	149771578	149771578	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:149771578C>T	ENST00000451292.1	+	22	3575	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	TCOF1_ENST00000439160.2_Missense_Mutation_p.A1081V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1042V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A1042V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1119V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A1119V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A1118V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1119					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTCCAGGCCAAAGGGACC	0.537000													8	33					0	0	0.000274275	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247196	26247196	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:26247196G>A	ENST00000244537.4	-	1	63	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCTTGCCCCGAACAGACATG	0.468000													26	24					0	0	0.00106085	0	0
TTC26	79989	broad.mit.edu	37	7	138872190	138872190	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:138872190C>T	ENST00000464848.1	+	17	1538	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	TTC26_ENST00000495038.1_Silent_p.V355V|TTC26_ENST00000343187.4_Silent_p.V455V|TTC26_ENST00000478836.2_Silent_p.V379V|TTC26_ENST00000430935.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	486							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CTTTTGATGTCCTTGAGAGGC	0.448000													57	118					0	0	0.000781405	0	0
FBN3	84467	broad.mit.edu	37	19	8176063	8176063	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:8176063C>T	ENST00000600128.1	-	33	4503	c.4089G>A	c.(4087-4089)agG>agA	p.R1363R	FBN3_ENST00000601739.1_Silent_p.R1363R|FBN3_ENST00000270509.2_Silent_p.R1363R			Q75N90	FBN3_HUMAN	fibrillin 3	1363	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACATTCATCCCTGTCTGAGG	0.637000													14	33					0	0	0.000422831	0	0
RHAG	6005	broad.mit.edu	37	6	49604489	49604489	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:49604489C>T	ENST00000371175.4	-	1	63	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	RHAG_ENST00000229810.7_Missense_Mutation_p.E13K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	13					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGGCAATTTCCAGGACTATA	0.443000													22	52					0	0	0.00047179	0	0
KXD1	79036	broad.mit.edu	37	19	18679325	18679325	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:18679325G>A	ENST00000602094.1	+	5	1875	c.415G>A	c.(415-417)Gac>Aac	p.D139N	KXD1_ENST00000595073.1_Missense_Mutation_p.D139N|KXD1_ENST00000222307.4_Missense_Mutation_p.D139N|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000601630.1_Missense_Mutation_p.D158N|KXD1_ENST00000539106.1_Missense_Mutation_p.D139N|KXD1_ENST00000599319.1_Missense_Mutation_p.D139N|KXD1_ENST00000540691.1_Missense_Mutation_p.D139N			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	139							protein binding										CACCAGCCCCGACACCGTCTC	0.637000													53	146					0	0	0.000781405	0	0
SCN2A	6326	broad.mit.edu	37	2	166172255	166172255	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:166172255C>T	ENST00000375437.2	+	11	1948	c.1658C>T	c.(1657-1659)tCt>tTt	p.S553F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S553F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S553F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S553F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	553					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGAGATTTTCTTCTCCACAC	0.338000													24	111					0	0	0.001512	0	0
ASIC1	41	broad.mit.edu	37	12	50453566	50453566	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:50453566G>A	ENST00000228468.4	+	3	772	c.387G>A	c.(385-387)atG>atA	p.M129I	ASIC1_ENST00000447966.2_Missense_Mutation_p.M129I	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	129					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACACACAGATGGCAGATGAAA	0.552000													11	10					0	0	0.000978159	0	0
OR56B1	387748	broad.mit.edu	37	11	5758004	5758004	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:5758004C>T	ENST00000317121.3	+	1	324	c.258C>T	c.(256-258)atC>atT	p.I86I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CCACTACTATCATCCCTAAGA	0.468000													5	33					0	0	0.00116845	0	0
ADAM23	8745	broad.mit.edu	37	2	207460822	207460822	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:207460822G>A	ENST00000264377.3	+	24	2623	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	ADAM23_ENST00000374416.1_Silent_p.G765G|ADAM23_ENST00000374415.3_Silent_p.G765G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	765	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCTGGGCAGGGACAGATTGCA	0.433000													8	36					0	0	0.000442599	0	0
GPR98	84059	broad.mit.edu	37	5	90046500	90046500	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90046500C>T	ENST00000405460.2	+	53	11203	c.11107C>T	c.(11107-11109)Cct>Tct	p.P3703S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3703	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.P3703S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGATATATTTCCTACCTCAGG	0.378000													33	111					0	0	0.00170553	0	0
ZNF528	84436	broad.mit.edu	37	19	52919834	52919834	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:52919834C>T	ENST00000360465.3	+	7	2155	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAAGAAATCTCATGAGTGTAA	0.433000													20	35					0	0	0.00047179	0	0
NCMAP	400746	broad.mit.edu	37	1	24932131	24932131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:24932131G>A	ENST00000374392.2	+	4	268	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		AGAGCCCAAGGGCCCCAAGCC	0.597000													16	42					0	0	0.000566183	0	0
TNR	7143	broad.mit.edu	37	1	175304905	175304905	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:175304905G>A	ENST00000367674.1	-	20	4281	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	TNR_ENST00000263525.2_Silent_p.F1191F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1191	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATTTCCGGAAAAAATCAG	0.428000													10	94					0	0	0.00185496	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001223	27001223	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:27001223C>T	ENST00000344420.5	+	6	1022	c.960C>T	c.(958-960)atC>atT	p.I320I	SLC35F6_ENST00000416475.2_Silent_p.I237I|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		CACTGCAGATCCTTGGCTTCC	0.637000													44	121					0	0	0.000781405	0	0
MEN1	4221	broad.mit.edu	37	11	64575105	64575105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:64575105C>T	ENST00000337652.1	-	4	1220	c.717G>A	c.(715-717)atG>atA	p.M239I	MEN1_ENST00000443283.1_Missense_Mutation_p.M239I|MEN1_ENST00000315422.4_Missense_Mutation_p.M234I|MEN1_ENST00000377326.3_Missense_Mutation_p.M234I|MEN1_ENST00000312049.6_Missense_Mutation_p.M234I|MEN1_ENST00000377316.2_Missense_Mutation_p.M234I|MEN1_ENST00000394374.2_Missense_Mutation_p.M239I|MEN1_ENST00000377313.1_Missense_Mutation_p.M239I|MEN1_ENST00000394376.1_Missense_Mutation_p.M239I|MEN1_ENST00000377321.1_Missense_Mutation_p.M199I	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	239	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACGCCACCTCCATCTTGCGGT	0.567000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				49	88					0	0	0.000781405	0	0
PCSK5	5125	broad.mit.edu	37	9	78973755	78973755	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:78973755C>A	ENST00000545128.1	+	37	6038	c.5500C>A	c.(5500-5502)Cgg>Agg	p.R1834R		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGTCTACCGGAAATTTAA	0.478000													10	102					0.000673444	0.00297962	0.000673444	1	0
ALMS1	7840	broad.mit.edu	37	2	73799546	73799546	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:73799546C>T	ENST00000264448.6	+	16	10650	c.10539C>T	c.(10537-10539)ttC>ttT	p.F3513F	ALMS1_ENST00000409009.1_Silent_p.F3471F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3513					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGAAAGATTTCTTTCAGCATC	0.373000													7	36					0	0	0.00198382	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994058	106994058	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106994058G>A	ENST00000390624.2	-	0	185																											GAGTCTCAGGGACCCCCCAGG	0.577000													17	67					0	0	0.000566183	0	0
RNF103	7844	broad.mit.edu	37	2	86831623	86831623	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:86831623G>A	ENST00000237455.4	-	4	2369	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	467					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAATCGGGTGGAAGAGGTAGC	0.448000													11	41					0	0	0.00136819	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922017	78922017	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78922017C>T	ENST00000261751.3	-	5	741	c.630G>A	c.(628-630)agG>agA	p.R210R	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	210					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTTCACTGTCCTTCTCCCTG	0.552000													23	109					0	0	0.00127121	0	0
STX5	6811	broad.mit.edu	37	11	62592967	62592967	+	Silent	SNP	G	G	A	rs146258093		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62592967G>A	ENST00000294179.3	-	6	621	c.468C>T	c.(466-468)ttC>ttT	p.F156F	STX5_ENST00000394690.1_Silent_p.F102F|STX5_ENST00000377897.4_Silent_p.F156F|STX5_ENST00000541317.1_Silent_p.F60F	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	156					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGGCTCTCACGAAATCCTGGA	0.532000													36	72					0	0	0.000509022	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053788	95053788	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:95053788G>A	ENST00000329597.7	+	3	299	c.89G>A	c.(88-90)aGa>aAa	p.R30K	SERPINA5_ENST00000554866.1_Missense_Mutation_p.R30K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R30K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R30K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	30					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGAAGAAGAGAGTCGAGGAC	0.627000													9	29					0	0	0.000274275	0	0
C3orf22	152065	broad.mit.edu	37	3	126268807	126268807	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:126268807G>A	ENST00000318225.2	-	4	708	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	110										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GTTGTCTGGGGAAGCGGCGAC	0.622000													9	64					0	0	0.000978159	0	0
EIF2D	1939	broad.mit.edu	37	1	206785667	206785667	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:206785667G>A	ENST00000271764.2	-	1	237	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EIF2D_ENST00000367114.3_Missense_Mutation_p.S10F	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	10					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCGTGTTGGACTTGACCCG	0.622000													10	91					0	0	0.000978159	0	0
CHPF	79586	broad.mit.edu	37	2	220405064	220405064	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220405064G>A	ENST00000243776.6	-	4	1617	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	CHPF_ENST00000535926.1_Missense_Mutation_p.P295S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	457						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCGGGCCGGATCAAAGCGT	0.667000													27	70					0	0	0.000692331	0	0
XPR1	9213	broad.mit.edu	37	1	180804100	180804100	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180804100G>A	ENST00000367590.4	+	10	1423	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	XPR1_ENST00000367589.3_Missense_Mutation_p.D409N	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	409						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATACTGATGGACCTGGAATA	0.438000													17	45					0	0	0.00074312	0	0
RYR3	6263	broad.mit.edu	37	15	33835822	33835822	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:33835822G>A	ENST00000389232.4	+	8	716		c.e8-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		TTCTCTTACAGGATACCTACT	0.398000													14	58					0	0	0.000308642	0	0
DSCAM	1826	broad.mit.edu	37	21	41516654	41516654	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:41516654G>A	ENST00000400454.1	-	17	3500	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1008	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTTTCTTGGGAGCCTAAAC	0.443000													5	19					0	0	0.00198382	0	0
UBE3B	89910	broad.mit.edu	37	12	109928893	109928893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:109928893C>T	ENST00000342494.3	+	9	1269	c.674C>T	c.(673-675)tCc>tTc	p.S225F	UBE3B_ENST00000280774.5_Missense_Mutation_p.S225F|UBE3B_ENST00000540230.1_3'UTR|UBE3B_ENST00000537063.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.S225F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	225					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCTTGTCTATCCAAAGGCACT	0.413000													29	51					0	0	0.000953801	0	0
CSMD2	114784	broad.mit.edu	37	1	34190148	34190148	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:34190148G>A	ENST00000373381.4	-	18	3029	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	911	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTCCACTGGAAGTTGGGCT	0.587000													11	32					0	0	0.00185496	0	0
NME9	347736	broad.mit.edu	37	3	138023816	138023816	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:138023816C>T	ENST00000383180.2	-	10	744	c.507G>A	c.(505-507)ctG>ctA	p.L169L	NME9_ENST00000333911.3_Silent_p.L230L|NME9_ENST00000484930.1_Silent_p.L167L|NME9_ENST00000317876.4_Silent_p.L169L|NME9_ENST00000536478.1_Silent_p.L169L|NME9_ENST00000341790.5_Silent_p.L167L	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	230	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGGTGAGGATCAGGAGGTGGC	0.602000													46	289					0	0	0.000781405	0	0
QSOX1	5768	broad.mit.edu	37	1	180151427	180151427	+	Missense_Mutation	SNP	G	G	A	rs148485913		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:180151427G>A	ENST00000367602.3	+	6	799	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	QSOX1_ENST00000367600.5_Missense_Mutation_p.R242Q			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	242					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGTTCCGGAATGGCTCT	0.602000													53	105					0	0	0.000781405	0	0
COL28A1	340267	broad.mit.edu	37	7	7545698	7545698	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:7545698C>T	ENST00000399429.3	-	11	1113	c.972_splice	c.e11-1	p.G325_splice		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	325	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCAGTAATTCCCTGCTCCAGG	0.473000													10	72					0	0	0.000673444	0	0
ACCS	84680	broad.mit.edu	37	11	44104794	44104794	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44104794T>C	ENST00000263776.8	+	13	1621	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	396							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCAGAAGAGCTTAGGGCATTG	0.562000													9	67					0	0	0.000442599	0	0
SULT1A2	6799	broad.mit.edu	37	16	28606886	28606886	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:28606886G>A	ENST00000533150.1	-	2	1375	c.259C>T	c.(259-261)Cca>Tca	p.P87S	SULT1A2_ENST00000335715.4_Missense_Mutation_p.P87S|SULT1A2_ENST00000395630.1_Missense_Mutation_p.P87S			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	87					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GGAATCCCTGGGACTTTGAAC	0.587000													17	36					0	0	0.000958276	0	0
CPED1	79974	broad.mit.edu	37	7	120737752	120737752	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:120737752G>A	ENST00000310396.5	+	6	1083		c.e6-1		CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AATCTTTTCAGAACTGCAACT	0.408000													10	59					0	0	0.00136819	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110457005	110457005	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:110457005C>T	ENST00000261739.4	+	6	772	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	202										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCGAACGCTTCGACCTTTCCC	0.488000													43	59					0	0	0.000680045	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340903	39340903	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:39340903G>A	ENST00000398472.1	-	1	691	c.204C>T	c.(202-204)gtC>gtT	p.V68V				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	68	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCTGACAACAGACTGGGTGGC	0.642000													27	31					0	0	0.000878237	0	0
CLDN19	149461	broad.mit.edu	37	1	43203944	43203944	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:43203944C>T	ENST00000296387.1	-	3	619	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CLDN19_ENST00000372539.3_Silent_p.L143L|CLDN19_ENST00000539749.1_Intron	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	143					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGGGTCACCAGGGTGGCAT	0.602000													16	76					0	0	0.000958276	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:143633090G>A	ENST00000408955.2	+	1	832	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512000													24	79					0	0	0.00106085	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998377	92998377	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:92998377G>A	ENST00000523629.1	-	9	1708	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	RUNX1T1_ENST00000396218.1_Silent_p.P391P|RUNX1T1_ENST00000436581.2_Silent_p.P429P|RUNX1T1_ENST00000265814.3_Silent_p.P418P|RUNX1T1_ENST00000360348.2_Silent_p.P381P|RUNX1T1_ENST00000520724.1_Silent_p.P381P|RUNX1T1_ENST00000422361.2_Silent_p.P381P|RUNX1T1_ENST00000518844.1_Silent_p.P391P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	418					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P418P(2)|p.P381P(2)|p.P429P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGGTTGACGGGACTCTGCT	0.453000													13	83					0	0	0.000422831	0	0
EXT2	2132	broad.mit.edu	37	11	44130795	44130795	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:44130795C>T	ENST00000395673.3	+	3	743	c.687C>T	c.(685-687)ccC>ccT	p.P229P	EXT2_ENST00000343631.3_Silent_p.P196P|EXT2_ENST00000533608.1_Silent_p.P196P|EXT2_ENST00000358681.4_Silent_p.P196P|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	196					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGGAGGTCCCCCAGATTATA	0.428000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				16	49					0	0	0.00121646	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981653	92981653	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:92981653G>A	ENST00000268164.3	+	4	598	c.361G>A	c.(361-363)Gat>Aat	p.D121N	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.D100N	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	121					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAAGCCTGGAGATATTATTCA	0.443000													32	145					0	0	0.000692331	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343208	69343208	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:69343208G>A	ENST00000305363.4	+	8	893	c.829G>A	c.(829-831)Gat>Aat	p.D277N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	277	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACATGACTATGATATTTCTCT	0.413000													32	138					0	0	0.000814825	0	0
FAT3	120114	broad.mit.edu	37	11	92088399	92088399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:92088399C>T	ENST00000298047.6	+	1	3138	c.3121C>T	c.(3121-3123)Ccc>Tcc	p.P1041S	FAT3_ENST00000409404.2_Missense_Mutation_p.P1041S|FAT3_ENST00000525166.1_Missense_Mutation_p.P891S|FAT3_ENST00000541502.1_Missense_Mutation_p.P1041S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1041	Cadherin 9.				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)				CCTCCACACTCCCTATTTCCC	0.502000										TCGA Ovarian(4;0.039)			76	130					0	0	0.000781405	0	0
LARS2	23395	broad.mit.edu	37	3	45461192	45461192	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:45461192C>T	ENST00000415258.1	+	5	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	LARS2_ENST00000265537.3_Missense_Mutation_p.R163C|LARS2_ENST00000414984.1_Missense_Mutation_p.R120C			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	163					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAGCTTGATCGTCTGGGCCT	0.418000													19	65					0	0	0.00047179	0	0
CDHR2	54825	broad.mit.edu	37	5	176016373	176016373	+	Silent	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:176016373A>G	ENST00000510636.1	+	23	3325	c.3051A>G	c.(3049-3051)caA>caG	p.Q1017Q	CDHR2_ENST00000506348.1_Silent_p.Q1017Q|CDHR2_ENST00000261944.5_Silent_p.Q1017Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1017	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCACCTACCAAGTGACAGTCC	0.632000													14	110					0	0	0.000958276	0	0
ZNF846	162993	broad.mit.edu	37	19	9868406	9868406	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9868406G>A	ENST00000397902.2	-	6	1760	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TACATTCACAGGCCTTTTCTC	0.428000													17	58					0	0	0.00121646	0	0
SYT10	341359	broad.mit.edu	37	12	33560283	33560283	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:33560283G>A	ENST00000228567.3	-	3	814	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTTCGGAAGGAACTGTGGCT	0.438000													27	59					0	0	0.001512	0	0
AKR1C3	8644	broad.mit.edu	37	10	5149666	5149666	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:5149666C>T	ENST00000380554.3	+	9	1595	c.943C>T	c.(943-945)Cct>Tct	p.P315S	AKR1C3_ENST00000605149.1_Missense_Mutation_p.P292S|AKR1C3_ENST00000439082.2_Missense_Mutation_p.P196S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	315					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TGCTAGCCACCCTAATTATCC	0.398000													9	45					0	0	0.000442599	0	0
MEGF6	1953	broad.mit.edu	37	1	3417559	3417559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:3417559G>A	ENST00000356575.4	-	20	2772	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L	MEGF6_ENST00000294599.4_Missense_Mutation_p.P744L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	849	EGF-like 14.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGTCCACCCGGGGGCACAGCT	0.647000													23	60					0	0	0.00047179	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580354	96580354	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:96580354A>C	ENST00000371321.3	+	6	1003	c.921A>C	c.(919-921)agA>agC	p.R307S	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	307					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAACCCTGAGATATGCTCTCC	0.443000													22	97					0	0	0.000586117	0	0
SI	6476	broad.mit.edu	37	3	164773033	164773033	+	Silent	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:164773033T>C	ENST00000264382.3	-	13	1523	c.1461A>G	c.(1459-1461)gcA>gcG	p.A487A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	487	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCATTCATTTGCCCACCAAT	0.343000										HNSCC(35;0.089)			14	108					0	0	0.000566183	0	0
SBF1	6305	broad.mit.edu	37	22	50903087	50903087	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:50903087G>A	ENST00000380817.2	-	14	1695	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SBF1_ENST00000348911.6_Silent_p.P505P|SBF1_ENST00000390679.3_Silent_p.P504P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	504					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGGGAAGGGTCGGGGCA	0.677000													30	105					0	0	0.0024448	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:20404752G>A	ENST00000285600.4	+	1	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACTCCTGGAAAAACTAGG	0.438000													8	38					0	0	0.000274275	0	0
ITFG3	83986	broad.mit.edu	37	16	314847	314847	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:314847C>T	ENST00000399932.3	+	13	1936	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ITFG3_ENST00000301678.3_Silent_p.I495I|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Silent_p.I495I|ITFG3_ENST00000450082.2_Silent_p.I495I|ITFG3_ENST00000442458.2_Intron			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	495						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCGCCTACATCCTTCTGACAG	0.672000													9	12					0	0	0.00136819	0	0
RSPO2	340419	broad.mit.edu	37	8	108913395	108913395	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:108913395C>T	ENST00000276659.5	-	6	1260	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RSPO2_ENST00000517939.1_Missense_Mutation_p.E147K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E150K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E150K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	214					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ttcctcttctccttcgccttT	0.423000													9	17					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9062015	9062015	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9062015C>T	ENST00000397910.4	-	3	25634	c.25431G>A	c.(25429-25431)gcG>gcA	p.A8477A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8479	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCGCTTCAGTAG	0.498000													40	111					0	0	0.000781405	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692152	106692152	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:106692152C>T	ENST00000390607.2	-	0	51																											CAGTGCTGATCACCAAGTGGA	0.502000													9	60					0	0	0.000442599	0	0
PROKR1	10887	broad.mit.edu	37	2	68882048	68882048	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:68882048G>A	ENST00000303786.3	+	3	942	c.522G>A	c.(520-522)atG>atA	p.M174I	PROKR1_ENST00000394342.2_Missense_Mutation_p.M174I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	174						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACCACGGATGAAGTGCCAAA	0.532000													24	55					0	0	0.00047179	0	0
GPR42	2866	broad.mit.edu	37	19	35863086	35863086	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:35863086C>T	ENST00000454971.1	+	2	1026	c.825C>T	c.(823-825)gtC>gtT	p.V275V	GPR42_ENST00000597214.1_Silent_p.V275V					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCCCTTTGTCTACTACTTCT	0.587000													22	47					0	0	0.00127121	0	0
DNAH8	1769	broad.mit.edu	37	6	38941535	38941535	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:38941535C>T	ENST00000359357.3	+	82	12227	c.11973C>T	c.(11971-11973)ttC>ttT	p.F3991F	DNAH8_ENST00000441566.1_Silent_p.F3955F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGATTCTTTCCGAGTATGGA	0.403000													13	31					0	0	0.000308642	0	0
RSPO2	340419	broad.mit.edu	37	8	109001376	109001376	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:109001376C>T	ENST00000276659.5	-	3	811	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	64					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCTTCTCTTCGAAGGAAGAA	0.478000													8	43					0	0	0.000442599	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391164	23391164	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:23391164G>A	ENST00000258729.3	-	6	799	c.443C>T	c.(442-444)aCc>aTc	p.T148I	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	148	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TACTTTCAAGGTGAAATTCTC	0.512000													11	54					0	0	0.000219431	0	0
PTPN7	5778	broad.mit.edu	37	1	202123316	202123316	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:202123316C>T	ENST00000309017.3	-	6	1692	c.919G>A	c.(919-921)Gag>Aag	p.E307K	PTPN7_ENST00000543735.1_Missense_Mutation_p.E31K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Missense_Mutation_p.E202K|PTPN7_ENST00000367279.4_Missense_Mutation_p.E241K	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	202	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCTCCTACCTCCTTGCCCTCT	0.592000													17	31					0	0	0.000958276	0	0
IFNA16	3449	broad.mit.edu	37	9	21216880	21216880	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:21216880G>A	ENST00000380216.1	-	1	430	c.425C>T	c.(424-426)gCt>gTt	p.A142V		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	142					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			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTTCCTCACAGCCAGGATGGA	0.463000													48	84					0	0	0.000781405	0	0
DNAH9	1770	broad.mit.edu	37	17	11687023	11687023	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:11687023G>A	ENST00000262442.3	+	40	7847	c.7779G>A	c.(7777-7779)atG>atA	p.M2593I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M2593I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2593	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCCTGTATGAACCCCACGG	0.522000													13	35					0	0	0.000308642	0	0
MYBPH	4608	broad.mit.edu	37	1	203140699	203140699	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:203140699G>A	ENST00000255416.4	-	5	662	c.605C>T	c.(604-606)cCt>cTt	p.P202L		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	202	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CTGAGGCTTAGGCTTCCCCTG	0.642000													6	16					0	0	0.000157383	0	0
AREL1	9870	broad.mit.edu	37	14	75151229	75151229	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:75151229G>A	ENST00000356357.4	-	4	686	c.171C>T	c.(169-171)ccC>ccT	p.P57P	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		TGCAAGACCGGGGATCCAGGT	0.567000													7	20					0	0	0.000274275	0	0
GTSE1	51512	broad.mit.edu	37	22	46725290	46725290	+	Silent	SNP	G	G	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:46725290G>T	ENST00000454366.1	+	11	2174	c.1962G>T	c.(1960-1962)gcG>gcT	p.A654A		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	635					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AACCACTCGCGGTCACTCCAG	0.517000													12	330					0.000151284	0.000672414	0.00185496	1	0
CNGA1	1259	broad.mit.edu	37	4	47939399	47939399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:47939399C>T	ENST00000402813.3	-	10	1461	c.1319G>A	c.(1318-1320)aGg>aAg	p.R440K	CNGA1_ENST00000420489.2_Missense_Mutation_p.R371K|CNGA1_ENST00000544810.1_Missense_Mutation_p.R371K|CNGA1_ENST00000358519.4_Missense_Mutation_p.R371K|CNGA1_ENST00000514170.1_Missense_Mutation_p.R371K			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	371					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAGAATCCCTCACGGGAGG	0.408000													26	107					0	0	0.001512	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20501698	20501698	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:20501698C>T	ENST00000202677.6	-	31	4089	c.3947G>A	c.(3946-3948)aGt>aAt	p.S1316N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1316					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TATGTAGTGACTCTGTTGGGT	0.532000													19	83					0	0	0.00047179	0	0
MYOM2	9172	broad.mit.edu	37	8	2044149	2044149	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2044149G>A	ENST00000262113.4	+	18	2329	c.2188G>A	c.(2188-2190)Ggc>Agc	p.G730S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G155S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	730	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATGACCCTCGGCTGGAAGGT	0.572000													33	84					0	0	0.00128727	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886159	30886159	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:30886159G>A	ENST00000540456.1	-	13	1304	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.F346F|SEC14L4_ENST00000255858.7_Missense_Mutation_p.P386S			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	386	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCCTTGTCGGGAAGCAGCACC	0.587000													13	56					0	0	0.000219431	0	0
MAST2	23139	broad.mit.edu	37	1	46488611	46488611	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:46488611C>T	ENST00000361297.2	+	13	1736	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	MAST2_ENST00000372008.1_Missense_Mutation_p.P370S|MAST2_ENST00000372009.2_Missense_Mutation_p.P415S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	485					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGTGACAGTCCTGACACTCC	0.473000													39	75					0	0	0.000781405	0	0
CHID1	66005	broad.mit.edu	37	11	902221	902221	+	Missense_Mutation	SNP	G	G	A	rs139154177		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:902221G>A	ENST00000449825.1	-	4	727	c.371C>T	c.(370-372)aCg>aTg	p.T124M	CHID1_ENST00000323578.8_Missense_Mutation_p.T124M|CHID1_ENST00000454838.2_Missense_Mutation_p.T149M|CHID1_ENST00000336845.5_Missense_Mutation_p.T149M|CHID1_ENST00000429789.2_Missense_Mutation_p.T124M|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Missense_Mutation_p.T149M|CHID1_ENST00000323541.7_Missense_Mutation_p.T154M|CHID1_ENST00000436108.2_Missense_Mutation_p.T124M	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	124					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GTGGAGGCCCGTGACCTCAAA	0.567000													12	59					0	0	0.000978159	0	0
CHL1	10752	broad.mit.edu	37	3	436434	436434	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:436434G>A	ENST00000256509.2	+	24	3615	c.2973G>A	c.(2971-2973)aaG>aaA	p.K991K	CHL1_ENST00000397491.2_Silent_p.K975K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	975	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTCCATCAAAGCCCAGCTGGC	0.393000													14	49					0	0	0.000219431	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29896986	29896986	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:29896986G>A	ENST00000308713.5	-	8	1820	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	SEZ6L2_ENST00000350527.3_Silent_p.I361I|SEZ6L2_ENST00000346932.5_Silent_p.I317I|SEZ6L2_ENST00000537485.1_Silent_p.I387I	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	431	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGTCACTGATGAGACCCC	0.592000													28	41					0	0	0.00106085	0	0
CASR	846	broad.mit.edu	37	3	121975937	121975937	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121975937C>T	ENST00000498619.1	+	3	633	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CASR_ENST00000296154.5_Silent_p.F65F|CASR_ENST00000490131.1_Silent_p.F65F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	65					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTATAATTTCCGTGGGTTTC	0.443000													10	53					0	0	0.00136819	0	0
EMC7	56851	broad.mit.edu	37	15	34376656	34376656	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:34376656G>A	ENST00000256545.4	-	5	716	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		CTCATGGTTGGAATTCAGCAT	0.408000													30	116					0	0	0.00178596	0	0
EML1	2009	broad.mit.edu	37	14	100402664	100402664	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:100402664C>T	ENST00000262233.6	+	19	2227	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	EML1_ENST00000327921.9_Silent_p.I684I|EML1_ENST00000334192.4_Silent_p.I715I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	696						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTACGAAATCCTCTACTGTG	0.507000													11	27					0	0	0.000308642	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049378	36049378	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:36049378G>A	ENST00000282507.3	-	4	557	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.F118F|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	152						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGGACAGT	0.408000													11	29					0	0	0.000673444	0	0
ACKR3	57007	broad.mit.edu	37	2	237489778	237489778	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:237489778C>T	ENST00000272928.3	+	2	980	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CTTTGCCGTTCCCTTCTCCAT	0.562000													31	79					0	0	0.001512	0	0
HCLS1	3059	broad.mit.edu	37	3	121350826	121350826	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:121350826C>T	ENST00000314583.3	-	14	1419	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G406E	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	443	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTCATCACTTCCCTCTGGGGA	0.522000													46	103					0	0	0.000781405	0	0
STEAP3	55240	broad.mit.edu	37	2	120003247	120003247	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:120003247C>T	ENST00000354888.5	+	3	679	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	STEAP3_ENST00000393106.2_Missense_Mutation_p.R59C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R59C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R59C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R59C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R69C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	59					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGTGGGGAGCCGCAACCCCAA	0.632000													18	34					0	0	0.000958276	0	0
FBXO28	23219	broad.mit.edu	37	1	224345355	224345355	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:224345355C>T	ENST00000366862.5	+	5	1057	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	338										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CCTCAGGGTCCGGGCAGAATG	0.458000													15	99					0	0	0.000219431	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308219	154308219	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:154308219C>T	ENST00000285873.7	-	6	857	c.781_splice	c.e6-1	p.G261_splice		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	261					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCATCACCCCTGCAGATTA	0.468000													8	34					0	0	0.000673444	0	0
PTPRE	5791	broad.mit.edu	37	10	129861350	129861350	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:129861350C>T	ENST00000254667.3	+	10	908	c.629C>T	c.(628-630)cCc>cTc	p.P210L	PTPRE_ENST00000306042.5_Missense_Mutation_p.P152L|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.P210L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	210	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CACACAGGTCCCAAACAGGAA	0.522000													14	56					0	0	0.000566183	0	0
KLHL1	57626	broad.mit.edu	37	13	70275873	70275873	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr13:70275873C>T	ENST00000377844.4	-	11	2967	c.2208G>A	c.(2206-2208)ggG>ggA	p.G736G	KLHL1_ENST00000545028.1_Silent_p.G543G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	736					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CACCTGCTCTCCCAATATTCA	0.303000													7	34					0	0	0.000274275	0	0
RILPL2	196383	broad.mit.edu	37	12	123907693	123907693	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:123907693G>A	ENST00000280571.8	-	3	799	c.503C>T	c.(502-504)cCa>cTa	p.P168L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	168						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTCTCTTGGTGGAATCAGGCC	0.398000													35	98					0	0	0.00058488	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629803	7629803	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:7629803G>A	ENST00000340209.4	+	3	607	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RBFOX1_ENST00000436368.2_Missense_Mutation_p.D119N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D142N|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D134N|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D119N|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D119N|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D142N			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	99					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCACCGACGGATGGCCAGCC	0.527000													12	27					0	0	0.00185496	0	0
ANO3	63982	broad.mit.edu	37	11	26646015	26646015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:26646015G>A	ENST00000256737.3	+	18	2695	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	ANO3_ENST00000537978.1_Missense_Mutation_p.E599K|ANO3_ENST00000525139.1_Missense_Mutation_p.E599K|ANO3_ENST00000531568.1_Missense_Mutation_p.E469K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	615						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAGGCTTATGAAAAAATTGC	0.318000													22	75					0	0	0.000878237	0	0
FCHO1	23149	broad.mit.edu	37	19	17893836	17893836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:17893836C>T	ENST00000594202.1	+	24	2227	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	FCHO1_ENST00000389133.4_Nonsense_Mutation_p.R650*|FCHO1_ENST00000596951.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000539407.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000252771.7_Nonsense_Mutation_p.R650*|FCHO1_ENST00000600676.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000596536.1_Nonsense_Mutation_p.R650*|FCHO1_ENST00000597512.1_Nonsense_Mutation_p.R657*|FCHO1_ENST00000595033.1_Nonsense_Mutation_p.R600*	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	650										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTGCCTGGCTCGAGTAACTGG	0.612000													13	42					0	0	0.000422831	0	0
ZNF148	7707	broad.mit.edu	37	3	124951657	124951657	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:124951657G>A	ENST00000360647.4	-	9	2398	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P638L|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P638L|ZNF148_ENST00000484491.1_Missense_Mutation_p.P638L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	638					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGGCTGATTTGGGAGGGTCTG	0.453000													22	122					0	0	0.000586117	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214392	67214392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:67214392C>T	ENST00000290881.7	-	3	1048	c.122G>A	c.(121-123)tGg>tAg	p.W41*	KIAA0895L_ENST00000563902.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000561621.1_Nonsense_Mutation_p.W41*|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	41	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGACTGAGACCAGGGGTACAG	0.677000													20	34					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9091470	9091470	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:9091470C>T	ENST00000397910.4	-	1	548	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	115	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTAGTTCCTAGAGGGAG	0.502000													36	85					0	0	0.00195071	0	0
PPEF2	5470	broad.mit.edu	37	4	76812837	76812837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:76812837G>A	ENST00000286719.7	-	4	561	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	69					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATCCATGAGATAGCTGAAG	0.507000													43	191					0	0	0.000781405	0	0
DOCK7	85440	broad.mit.edu	37	1	63044523	63044523	+	Silent	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:63044523A>C	ENST00000251157.5	-	17	2019	c.1986T>G	c.(1984-1986)ccT>ccG	p.P662P	DOCK7_ENST00000340370.5_Silent_p.P662P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	662	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTGTTTCAAGAGGAGTATTTT	0.303000													33	164					0	0	0.00128727	0	0
TGM3	7053	broad.mit.edu	37	20	2320599	2320599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2320599G>A	ENST00000381458.5	+	12	1963	c.1900G>A	c.(1900-1902)Gga>Aga	p.G634R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	634					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L630fs*5(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GATGGTGGAGGGAAGCGGCCT	0.647000													13	27					0	0	0.00185496	0	0
KDM3B	51780	broad.mit.edu	37	5	137727023	137727023	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137727023C>T	ENST00000314358.5	+	8	1902	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Silent_p.L224L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	568					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGCTCAGGCCTGTGTAAAGG	0.512000													15	35					0	0	0.000422831	0	0
DUSP27	92235	broad.mit.edu	37	1	167097732	167097732	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:167097732A>T	ENST00000361200.2	+	6	3530	c.3364A>T	c.(3364-3366)Aga>Tga	p.R1122*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.R1122*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.R1122*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1122					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTATCGGAGAAGCACTGA	0.517000													13	21					0	0	0.00185496	0	0
MTPAP	55149	broad.mit.edu	37	10	30615522	30615522	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:30615522G>A	ENST00000358107.4	-	6	1212	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	MTPAP_ENST00000263063.3_Missense_Mutation_p.P275S|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	275					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTCTGAAGGAACATTTTTC	0.348000													33	96					0	0	0.0024448	0	0
ALKBH1	8846	broad.mit.edu	37	14	78170753	78170753	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:78170753G>A	ENST00000216489.3	-	2	266	c.251C>T	c.(250-252)cCc>cTc	p.P84L	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	84					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTGCTGACGGGCTGAAGACC	0.443000													20	130					0	0	0.000720815	0	0
PDGFD	80310	broad.mit.edu	37	11	103780454	103780454	+	Missense_Mutation	SNP	C	C	T	rs146343067	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:103780454C>T	ENST00000302251.5	-	7	1514	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	PDGFD_ENST00000393158.2_Missense_Mutation_p.D361N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	361					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGATACAATCACATCGTTCA	0.458000													46	81					0	0	0.000781405	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538831	42538831	+	RNA	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:42538831A>T	ENST00000358097.4	-	0	488				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GTGGACACGGAGAAGCGCCTC	0.692000													5	29					0	0	0.00116845	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7522042C>T	ENST00000313599.3	-	15	4007	c.3950G>A	c.(3949-3951)gGa>gAa	p.G1317E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1327E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1317E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000													26	55					0	0	0.000586117	0	0
DNAH2	146754	broad.mit.edu	37	17	7722593	7722593	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:7722593G>A	ENST00000572933.1	+	72	12342	c.10882G>A	c.(10882-10884)Gac>Aac	p.D3628N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3628N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3628					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGCTGCATCGACCCCATGTA	0.557000													30	44					0	0	0.00058488	0	0
LOC286059	286059	broad.mit.edu	37	8	22938937	22938937	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:22938937C>T	ENST00000501897.1	+	0	441					NR_038873.1																						TTTACCTTTTCTCCTACAAAG	0.473000													11	19					0	0	0.000978159	0	0
NAV2	89797	broad.mit.edu	37	11	20129252	20129252	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:20129252C>T	ENST00000396085.1	+	37	7254	c.6893C>T	c.(6892-6894)tCg>tTg	p.S2298L	NAV2_ENST00000533917.1_Missense_Mutation_p.S1359L|NAV2_ENST00000396087.3_Missense_Mutation_p.S2354L|NAV2_ENST00000349880.4_Missense_Mutation_p.S2295L|NAV2_ENST00000540292.1_Missense_Mutation_p.S2285L|NAV2_ENST00000311043.8_Missense_Mutation_p.S1359L|NAV2_ENST00000527559.2_Missense_Mutation_p.S2283L|NAV2_ENST00000360655.4_Missense_Mutation_p.S2231L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2354						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGGACGGCTCGAGAGTGTGG	0.547000													30	206					0	0	0.0024448	0	0
POTEA	340441	broad.mit.edu	37	8	43159870	43159870	+	RNA	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:43159870G>A	ENST00000522175.2	+	0	726							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGACTACAAAGAAAACCAGAT	0.308000													13	39					0	0	0.000308642	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	130					0	0	0.000602214	0	0
TGM6	343641	broad.mit.edu	37	20	2380222	2380222	+	Missense_Mutation	SNP	G	G	A	rs147591485	byFrequency	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:2380222G>A	ENST00000202625.2	+	6	749	c.688G>A	c.(688-690)Gac>Aac	p.D230N	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.D230N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	230					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CAGCAACAACGACCGAGGTGT	0.622000													22	74					0	0	0.000878237	0	0
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:89058940C>T	ENST00000286614.6	-	9	1727	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378000													9	60					0	0	0.000978159	0	0
BAI1	575	broad.mit.edu	37	8	143623480	143623480	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:143623480C>T	ENST00000517894.1	+	28	4779	c.3885C>T	c.(3883-3885)ccC>ccT	p.P1295P	BAI1_ENST00000323289.5_Silent_p.P1295P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1295					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCGCTATCCCGGCGGGCCCC	0.642000													8	29					0	0	0.000157383	0	0
MCTP1	79772	broad.mit.edu	37	5	94248533	94248533	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:94248533C>T	ENST00000515393.1	-	9	1498	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E	MCTP1_ENST00000505078.1_Missense_Mutation_p.G16E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G279E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G233E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G279E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	500	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTGATGCCCAAGCCGGAA	0.468000													13	43					0	0	0.000422831	0	0
BDNF	627	broad.mit.edu	37	11	27680087	27680087	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:27680087C>T	ENST00000525528.1	-	1	1118	c.25G>A	c.(25-27)Gtt>Att	p.V9I	BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.V9I|BDNF_ENST00000395980.2_Missense_Mutation_p.V9I|BDNF_ENST00000530861.1_Missense_Mutation_p.V9I|BDNF_ENST00000395981.3_Missense_Mutation_p.V9I|BDNF_ENST00000314915.6_Missense_Mutation_p.V17I|BDNF_ENST00000356660.4_Missense_Mutation_p.V9I|BDNF_ENST00000395986.2_Missense_Mutation_p.V24I|BDNF_ENST00000533131.1_Missense_Mutation_p.V9I|BDNF_ENST00000395983.3_Missense_Mutation_p.V9I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.V9I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395978.3_Missense_Mutation_p.V9I|BDNF_ENST00000533246.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.V91I|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.V9I|BDNF_ENST00000532997.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.V9I|BDNF-AS_ENST00000530686.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	9						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TATGAAATAACCATAGTAAGG	0.493000													46	119					0	0	0.000781405	0	0
MRPL44	65080	broad.mit.edu	37	2	224828523	224828523	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:224828523G>A	ENST00000258383.3	+	3	768	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	233					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGATGTGGAAGATAATAAATC	0.348000													24	72					0	0	0.001512	0	0
CSMD1	64478	broad.mit.edu	37	8	3087620	3087620	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:3087620G>A	ENST00000602557.1	-	28	4845	c.4290C>T	c.(4288-4290)atC>atT	p.I1430I	CSMD1_ENST00000542608.1_Silent_p.I1429I|CSMD1_ENST00000539096.1_Silent_p.I1429I|CSMD1_ENST00000520002.1_Silent_p.I1430I|CSMD1_ENST00000400186.3_Silent_p.I1430I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1430I|CSMD1_ENST00000537824.1_Silent_p.I1429I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1430	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACACAGGTGATTTTGGCTT	0.488000													16	39					0	0	0.000566183	0	0
ABTB1	80325	broad.mit.edu	37	3	127396078	127396078	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:127396078C>T	ENST00000468137.1	+	7	901	c.285C>T	c.(283-285)ctC>ctT	p.L95L	ABTB1_ENST00000232744.8_Silent_p.L237L|ABTB1_ENST00000453791.2_Silent_p.L95L|ABTB1_ENST00000393363.3_Silent_p.L95L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	237						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ACCCCCGCCTCCGGGAGGACA	0.667000													5	9					0	0	0.000602214	0	0
DSP	1832	broad.mit.edu	37	6	7582972	7582972	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:7582972A>T	ENST00000379802.3	+	24	5818	c.5477A>T	c.(5476-5478)aAg>aTg	p.K1826M	DSP_ENST00000418664.2_Missense_Mutation_p.K1227M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1826	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGCAAGACAAGGCAAGGCTG	0.483000													52	98					0	0	0.000781405	0	0
LRCH2	57631	broad.mit.edu	37	X	114422919	114422919	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chrX:114422919G>A	ENST00000317135.8	-	2	394	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LRCH2_ENST00000538422.1_Missense_Mutation_p.R122C	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	122										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTGTAAAACGATTTCTGGAA	0.294000													12	17					0	0	0.00185496	0	0
DNAH11	8701	broad.mit.edu	37	7	21781648	21781648	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:21781648C>T	ENST00000328843.6	+	50	8070	c.8039C>T	c.(8038-8040)cCa>cTa	p.P2680L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2680	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCATTTGCTCCATCAATTCTC	0.408000									Kartagener syndrome				14	72					0	0	0.000219431	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710852	14710852	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:14710852G>A	ENST00000547437.1	+	12	829	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	CLEC17A_ENST00000397439.2_Missense_Mutation_p.R234Q|CLEC17A_ENST00000417570.1_Missense_Mutation_p.R251Q	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	251						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GACTGCCGCCGAATTACCTGT	0.552000													15	31					0	0	0.000566183	0	0
PTPRN	5798	broad.mit.edu	37	2	220168539	220168539	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:220168539C>T	ENST00000295718.2	-	4	535	c.295G>A	c.(295-297)Gat>Aat	p.D99N	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.D99N|PTPRN_ENST00000423636.2_Missense_Mutation_p.D9N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	99					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGAGGTCATCGTGCCAGGAC	0.577000													24	41					0	0	0.000375601	0	0
GHR	2690	broad.mit.edu	37	5	42718993	42718993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:42718993G>A	ENST00000230882.4	+	10	1574	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	GHR_ENST00000537449.1_Missense_Mutation_p.E275K|GHR_ENST00000357703.3_Missense_Mutation_p.E440K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	462					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACTTCCTACTGAAGGAGCTGA	0.453000													6	25					0	0	0.00198382	0	0
EML3	256364	broad.mit.edu	37	11	62375742	62375742	+	Silent	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:62375742C>A	ENST00000394773.2	-	10	1444	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	EML3_ENST00000529309.1_Silent_p.V379V|EML3_ENST00000494176.2_Silent_p.V351V|EML3_ENST00000278845.4_Silent_p.V380V|EML3_ENST00000531557.1_Silent_p.V162V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	379						cytoplasm|microtubule	protein binding	p.V379V(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAATCATCCACCACACAAA	0.542000													10	222					6.40141e-05	0.000284958	0.000978159	1	0
DMBT1	1755	broad.mit.edu	37	10	124345774	124345774	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:124345774C>T	ENST00000338354.3	+	16	1764	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S543L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S553L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S543L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	553	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGGGCTCAGGACCCATT	0.592000													26	109					0	0	0.000720815	0	0
TDRD5	163589	broad.mit.edu	37	1	179604947	179604947	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:179604947C>T	ENST00000444136.1	+	9	1695	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	TDRD5_ENST00000367614.1_Missense_Mutation_p.S482F|TDRD5_ENST00000294848.8_Missense_Mutation_p.S482F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	482					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TATATCATCTCTCCTAGTCAA	0.458000													7	64					0	0	0.000274275	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792946	140792946	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:140792946C>T	ENST00000398610.2	+	1	204	c.204C>T	c.(202-204)gtC>gtT	p.V68V	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGGAGTCCGCATAGTCT	0.607000													27	93					0	0	0.00178596	0	0
GJC3	349149	broad.mit.edu	37	7	99521176	99521176	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:99521176C>T	ENST00000312891.2	-	2	831	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					actcaggcatctctgggtcca	0.388000													42	93					0	0	0.000781405	0	0
ZNF423	23090	broad.mit.edu	37	16	49670603	49670603	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:49670603G>A	ENST00000561648.1	-	4	2513	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZNF423_ENST00000262383.2_Silent_p.I820I|ZNF423_ENST00000535559.1_Silent_p.I703I|ZNF423_ENST00000563137.2_Silent_p.I760I|ZNF423_ENST00000562871.1_Silent_p.I760I|ZNF423_ENST00000562520.1_Silent_p.I760I|ZNF423_ENST00000567169.1_Silent_p.I703I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	820					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTCCAGCAGGATGATGGCGT	0.572000													16	15					0	0	0.00074312	0	0
NIPBL	25836	broad.mit.edu	37	5	37061013	37061013	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:37061013G>A	ENST00000282516.8	+	45	8252	c.7753G>A	c.(7753-7755)Gga>Aga	p.G2585R	NIPBL_ENST00000448238.2_Missense_Mutation_p.G2585R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2585					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCGAAAAACAGGAGTTCATTT	0.348000													21	51					0	0	0.00188189	0	0
C8A	731	broad.mit.edu	37	1	57351711	57351711	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:57351711G>A	ENST00000361249.3	+	7	1063	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	323	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGCTTCCAGATCAGTACAA	0.413000													27	49					0	0	0.00106085	0	0
RPAP1	26015	broad.mit.edu	37	15	41827083	41827083	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:41827083G>A	ENST00000304330.4	-	6	708	c.592C>T	c.(592-594)Cct>Tct	p.P198S	RPAP1_ENST00000561603.1_Missense_Mutation_p.P198S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	198						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGCTCCCAGGAAGCTGGCAG	0.552000													11	48					0	0	0.000422831	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28454855	28454855	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:28454855G>A	ENST00000383768.2	+	3	484	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.G99E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	99	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CTCCCTCTTGGAAGCCTGGTT	0.353000													22	66					0	0	0.000586117	0	0
COL6A6	131873	broad.mit.edu	37	3	130285598	130285598	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:130285598G>A	ENST00000358511.6	+	4	1366	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	COL6A6_ENST00000453409.2_Silent_p.G445G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	445	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGGCTCAGGGAGCACCCAGG	0.493000													5	30					0	0	0.000602214	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938490	183938490	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:183938490C>T	ENST00000361927.4	-	5	1116	c.745G>A	c.(745-747)Gac>Aac	p.D249N	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D249N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GTCAGCTTGTCCGAGGCCTCC	0.537000													10	69					0	0	0.000673444	0	0
FAM131A	131408	broad.mit.edu	37	3	184062321	184062321	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:184062321G>A	ENST00000310585.4	+	3	1935	c.571G>A	c.(571-573)Gac>Aac	p.D191N	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.D99N|FAM131A_ENST00000453072.1_Missense_Mutation_p.D137N|FAM131A_ENST00000340957.5_Missense_Mutation_p.D137N|FAM131A_ENST00000383847.2_Missense_Mutation_p.D222N|FAM131A_ENST00000450976.1_Missense_Mutation_p.D137N			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	191						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCTCCAGGACCTGTTCAC	0.632000													20	150					0	0	0.000375601	0	0
INHBA	3624	broad.mit.edu	37	7	41729736	41729736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:41729736C>T	ENST00000242208.4	-	3	1039	c.793G>A	c.(793-795)Gag>Aag	p.E265K	INHBA_ENST00000442711.1_Missense_Mutation_p.E265K|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	265					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						tccccctcctcttctttcttc	0.592000										TSP Lung(11;0.080)			7	26					0	0	0.00198382	0	0
EFHB	151651	broad.mit.edu	37	3	19975029	19975029	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:19975029G>A	ENST00000295824.9	-	1	643	c.482C>T	c.(481-483)cCt>cTt	p.P161L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	161					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACGAAAGCAGGCTTTCCCAC	0.498000													29	100					0	0	0.000491102	0	0
SLIT1	6585	broad.mit.edu	37	10	98808855	98808855	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:98808855A>T	ENST00000266058.4	-	14	1567	c.1322T>A	c.(1321-1323)tTc>tAc	p.F441Y	SLIT1_ENST00000371070.4_Missense_Mutation_p.F441Y|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	441	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTCGCAAATGAAAGGGTTCTG	0.617000													16	49					0	0	0.00121646	0	0
NDRG2	57447	broad.mit.edu	37	14	21488731	21488731	+	Missense_Mutation	SNP	G	G	A	rs144285486	by1000genomes	TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:21488731G>A	ENST00000556147.1	-	8	1419	c.479C>T	c.(478-480)cCg>cTg	p.P160L	NDRG2_ENST00000553503.1_Missense_Mutation_p.P146L|NDRG2_ENST00000554143.1_Missense_Mutation_p.P146L|NDRG2_ENST00000397853.3_Missense_Mutation_p.P160L|NDRG2_ENST00000397856.3_Missense_Mutation_p.P146L|NDRG2_ENST00000554104.1_Missense_Mutation_p.P73L|NDRG2_ENST00000397858.1_Missense_Mutation_p.P160L|NDRG2_ENST00000397844.2_Missense_Mutation_p.P146L|NDRG2_ENST00000555158.1_Missense_Mutation_p.P146L|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000403829.3_Missense_Mutation_p.P156L|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000397847.2_Missense_Mutation_p.P160L|NDRG2_ENST00000350792.3_Missense_Mutation_p.P146L|NDRG2_ENST00000397851.2_Missense_Mutation_p.P160L|NDRG2_ENST00000298687.5_Missense_Mutation_p.P160L|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000360463.3_Missense_Mutation_p.P146L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	160					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AACAGTGTCCGGGTGGTTAAG	0.562000													5	22					0	0	0.00198382	0	0
ABCF3	55324	broad.mit.edu	37	3	183910650	183910650	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:183910650C>T	ENST00000429586.2	+	18	1901	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.V566V	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	572	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTAAACGTCAGTGCTGTGG	0.542000													35	72					0	0	0.000953801	0	0
LAMA1	284217	broad.mit.edu	37	18	7037703	7037703	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:7037703C>T	ENST00000389658.3	-	12	1704	c.1611G>A	c.(1609-1611)agG>agA	p.R537R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	537	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGATCTTCCTGGGACTGA	0.483000													16	33					0	0	0.000958276	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620999	25620999	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:25620999G>A	ENST00000398215.2	+	3	340	c.169G>A	c.(169-171)Gga>Aga	p.G57R		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	57	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AGTGCAGGCTGGACCGTAAGT	0.562000													21	61					0	0	0.00047179	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780821	25780821	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr4:25780821A>T	ENST00000399878.3	-	16	2584	c.2462T>A	c.(2461-2463)tTa>tAa	p.L821*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.L668*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.L786*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	821						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCACCAGCTAAAGTCTGTAA	0.463000													9	53					0	0	0.000673444	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430756	37430756	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:37430756G>A	ENST00000374660.1	+	7	862	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E255K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E255K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCTTGGTGGAAAGAACACC	0.498000													18	50					0	0	0.000566183	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:71026984G>A	ENST00000318789.4	-	15	1868	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	448					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL								29	71					0	0	0.0024448	0	0
MYOC	4653	broad.mit.edu	37	1	171621368	171621368	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:171621368C>T	ENST00000037502.5	-	1	443	c.384G>A	c.(382-384)cgG>cgA	p.R128R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	128					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCAGCTGGTCCCGCTCCCGCC	0.612000													27	50					0	0	0.000878237	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357125	36357125	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:36357125G>A	ENST00000360202.5	+	15	2056	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G585R|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G600R|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	620					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAAGCCCCTGGAGGAGGTCT	0.612000													15	42					0	0	0.000958276	0	0
GPR98	84059	broad.mit.edu	37	5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443000													10	30					0	0	0.000978159	0	0
SPAST	6683	broad.mit.edu	37	2	32372286	32372286	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:32372286G>A	ENST00000315285.3	+	16	1812		c.e16-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGTTTTACAGAACTAAAACC	0.308000													20	98					0	0	0.000375601	0	0
MUC4	4585	broad.mit.edu	37	3	195492185	195492185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:195492185C>T	ENST00000463781.3	-	9	14213	c.13754G>A	c.(13753-13755)tGg>tAg	p.W4585*	MUC4_ENST00000349607.4_Nonsense_Mutation_p.W298*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.W4533*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.W349*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCTGCTGCCAGGAACAAGG	0.642000													8	35					0	0	0.000157383	0	0
ATM	472	broad.mit.edu	37	11	108121761	108121761	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:108121761C>T	ENST00000278616.4	+	10	1954	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	ATM_ENST00000452508.2_Silent_p.F523F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	523					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACAGAGAATTCTGGAAGTTAT	0.408000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			44	83					0	0	0.000781405	0	0
WDR86	349136	broad.mit.edu	37	7	151093145	151093145	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:151093145G>A	ENST00000334493.6	-	3	873	c.443C>T	c.(442-444)cCg>cTg	p.P148L	WDR86_ENST00000477459.1_Missense_Mutation_p.P20L|WDR86_ENST00000469830.2_Missense_Mutation_p.P148L	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGTCCCACGGGGCAGAGTA	0.692000													12	19					0	0	0.00185496	0	0
RLBP1	6017	broad.mit.edu	37	15	89753635	89753635	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:89753635C>T	ENST00000268125.5	-	9	1274	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	279	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TCATCGATCTCCTGGTAGAAA	0.582000													12	55					0	0	0.000219431	0	0
OR2J2	26707	broad.mit.edu	37	6	29142337	29142337	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29142337G>A	ENST00000377167.2	+	1	1027	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATTGGGGTGGGAGTGGGGGAA	0.443000													12	30					0	0	0.00136819	0	0
BDKRB2	624	broad.mit.edu	37	14	96707016	96707016	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:96707016C>T	ENST00000542454.2	+	3	3358	c.270C>T	c.(268-270)atC>atT	p.I90I	BDKRB2_ENST00000539359.1_Silent_p.I90I|BDKRB2_ENST00000306005.3_Silent_p.I117I|BDKRB2_ENST00000554311.1_Silent_p.I117I|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	117					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCATCACCATCTCCAACAACT	0.587000													32	136					0	0	0.000814825	0	0
IL15RA	3601	broad.mit.edu	37	10	6002431	6002431	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:6002431C>T	ENST00000525219.2	-	4	668	c.374G>A	c.(373-375)gGa>gAa	p.G125E	IL15RA_ENST00000528354.1_Missense_Mutation_p.G128E|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Missense_Mutation_p.G96E|IL15RA_ENST00000530685.1_Missense_Mutation_p.G128E|IL15RA_ENST00000379977.3_Missense_Mutation_p.G161E|IL15RA_ENST00000397250.2_Missense_Mutation_p.G63E|IL15RA_ENST00000397255.3_Missense_Mutation_p.G161E|IL15RA_ENST00000397248.2_Missense_Mutation_p.G125E|IL15RA_ENST00000379971.1_Missense_Mutation_p.G63E	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	161					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTCTGTGGTTCCTGTGGAAGG	0.582000													53	113					0	0	0.000781405	0	0
TCF20	6942	broad.mit.edu	37	22	42608868	42608868	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:42608868G>A	ENST00000359486.3	-	1	2580	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	TCF20_ENST00000335626.4_Missense_Mutation_p.P815L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCAGTGGGGATTTTCTAA	0.443000													24	49					0	0	0.00047179	0	0
TRPV5	56302	broad.mit.edu	37	7	142625289	142625289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:142625289C>T	ENST00000265310.1	-	7	1151	c.803G>A	c.(802-804)tGg>tAg	p.W268*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.W268*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	268					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCATACGTCCACTGGATGTG	0.562000													10	65					0	0	0.000219431	0	0
LSG1	55341	broad.mit.edu	37	3	194371730	194371730	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:194371730G>A	ENST00000265245.5	-	10	1613	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	433	G.				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACACAGGCAGAGGCCAGGCT	0.488000													9	48					0	0	0.000978159	0	0
GHDC	84514	broad.mit.edu	37	17	40343194	40343194	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:40343194G>A	ENST00000301671.8	-	5	1365	c.924C>T	c.(922-924)ccC>ccT	p.P308P	GHDC_ENST00000587427.1_Silent_p.P308P|GHDC_ENST00000436923.2_Silent_p.P308P|GHDC_ENST00000428494.2_Silent_p.P269P|GHDC_ENST00000593209.1_Silent_p.P308P|GHDC_ENST00000414034.3_Silent_p.P308P			Q8N2G8	GHDC_HUMAN	GH3 domain containing	308						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGAGCCCATGGGGCTGCTCTG	0.627000													31	47					0	0	0.00148497	0	0
DHX34	9704	broad.mit.edu	37	19	47861215	47861215	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:47861215C>T	ENST00000328771.4	+	4	1459	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	370	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGTCCATTGACCACAAGTACC	0.652000													17	25					0	0	0.00152264	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427148	38427148	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:38427148G>A	ENST00000322350.5	+	14	2194	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	EGFLAM_ENST00000336740.6_Silent_p.L382L|EGFLAM_ENST00000354891.3_Silent_p.L616L|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	616	Laminin G-like 2.					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)					GAGAGTCTCTGAGATCTTACG	0.498000													21	90					0	0	0.00047179	0	0
OR4C46	119749	broad.mit.edu	37	11	51515514	51515514	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:51515514A>G	ENST00000328188.1	+	1	233	c.233A>G	c.(232-234)aAc>aGc	p.N78S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACCCCTAACCTGATCACA	0.493000													44	74					0	0	0.000680045	0	0
CIB2	10518	broad.mit.edu	37	15	78401687	78401687	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:78401687G>A	ENST00000258930.3	-	4	564	c.236C>T	c.(235-237)tCc>tTc	p.S79F	CIB2_ENST00000560618.1_Missense_Mutation_p.S36F|CIB2_ENST00000539011.1_Missense_Mutation_p.S36F|CIB2_ENST00000557846.1_Missense_Mutation_p.S30F	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	79	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ACCATCCTCGGAAAACGCCGC	0.547000													13	59					0	0	0.000566183	0	0
ATP9A	10079	broad.mit.edu	37	20	50273611	50273611	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:50273611C>T	ENST00000338821.5	-	14	1636	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	ATP9A_ENST00000402822.1_Missense_Mutation_p.E337K|ATP9A_ENST00000311637.5_Missense_Mutation_p.E322K	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	458					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCACGGCTTCGTGCACGCGG	0.597000													18	26					0	0	0.000958276	0	0
PHF7	51533	broad.mit.edu	37	3	52456247	52456247	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52456247C>T	ENST00000327906.3	+	9	1350	c.690C>T	c.(688-690)gcC>gcT	p.A230A	PHF7_ENST00000478707.1_Silent_p.A230A|PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	230						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAGATGCTGCCTGGGAACTCG	0.493000													30	96					0	0	0.0024448	0	0
GLI3	2737	broad.mit.edu	37	7	42065951	42065951	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:42065951G>A	ENST00000395925.3	-	8	1173	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	363					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCGGCTTAGGATCTGCTGAT	0.537000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	52					0	0	0.00185496	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334311	37334311	+	Missense_Mutation	SNP	G	G	A	rs146598061		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37334311G>A	ENST00000262825.5	+	14	2696	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	CSF2RB_ENST00000403662.3_Missense_Mutation_p.D821N|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D827N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D768N	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	821					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCAAGTGGGCGACTATTGCTT	0.647000													48	121					0	0	0.000781405	0	0
ZFR2	23217	broad.mit.edu	37	19	3823267	3823267	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr19:3823267C>T	ENST00000262961.4	-	8	1358	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	450						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCCGGGCCCACCGGCTGCGCA	0.622000													45	195					0	0	0.000781405	0	0
KCTD6	200845	broad.mit.edu	37	3	58486915	58486915	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:58486915G>A	ENST00000355076.6	+	2	1253	c.270G>A	c.(268-270)cgG>cgA	p.R90R	KCTD6_ENST00000490264.1_Silent_p.R90R|KCTD6_ENST00000404589.3_Silent_p.R90R	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	90						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		ATCTGCTTCGGAAAGAAGCAG	0.393000													29	80					0	0	0.00209593	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122090	43122090	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:43122090G>A	ENST00000344697.2	-	2	1179	c.834C>T	c.(832-834)agC>agT	p.S278S	GTDC2_ENST00000441964.1_Silent_p.S278S	NM_032806.4	NP_116195.2																					CTCCTGTGTGGCTCACGTTCA	0.567000													35	115					0	0	0.00195071	0	0
HRNR	388697	broad.mit.edu	37	1	152193617	152193617	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152193617C>T	ENST00000368801.2	-	3	563	c.488G>A	c.(487-489)aGa>aAa	p.R163K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	163					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAAAGTCTCTTTGAAAACT	0.478000													30	61					0	0	0.00127121	0	0
FN1	2335	broad.mit.edu	37	2	216269123	216269123	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:216269123A>C	ENST00000354785.4	-	20	3611	c.3242T>G	c.(3241-3243)gTc>gGc	p.V1081G	FN1_ENST00000323926.6_Missense_Mutation_p.V1081G|FN1_ENST00000443816.1_Missense_Mutation_p.V1081G|FN1_ENST00000421182.1_Missense_Mutation_p.V1081G|FN1_ENST00000432072.2_Missense_Mutation_p.V1081G|FN1_ENST00000346544.3_Missense_Mutation_p.V1081G|FN1_ENST00000345488.5_Missense_Mutation_p.V1081G|FN1_ENST00000357867.4_Missense_Mutation_p.V1081G|FN1_ENST00000359671.1_Missense_Mutation_p.V1081G|FN1_ENST00000357009.2_Missense_Mutation_p.V1081G|FN1_ENST00000446046.1_Missense_Mutation_p.V1081G|FN1_ENST00000336916.4_Missense_Mutation_p.V1081G|FN1_ENST00000356005.4_Missense_Mutation_p.V1081G			P02751	FINC_HUMAN	fibronectin 1	1081	Fibronectin type-III 5.				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)	TGTGGTAAAGACTCCAGTGGC	0.408000													20	102					0	0	0.00106085	0	0
PCLO	27445	broad.mit.edu	37	7	82545732	82545732	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:82545732C>T	ENST00000423517.2	-	7	11907	c.11570G>A	c.(11569-11571)aGa>aAa	p.R3857K	PCLO_ENST00000333891.8_Missense_Mutation_p.R3857K|PCLO_ENST00000437081.1_Missense_Mutation_p.R577K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3788	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGAGCAGTTCTTGGTCGCTC	0.468000													58	87					0	0	0.000781405	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768844	18768844	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:18768844C>T	ENST00000304081.4	-	2	145	c.45G>A	c.(43-45)atG>atA	p.M15I	NT5C1B_ENST00000359846.2_Missense_Mutation_p.M15I|NT5C1B_ENST00000600945.1_Missense_Mutation_p.M15I|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.M15I|NT5C1B_ENST00000460052.1_5'UTR	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTGAGGACCTCATTCCAGGCT	0.378000													18	151					0	0	0.00047179	0	0
FREM1	158326	broad.mit.edu	37	9	14842369	14842369	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:14842369G>A	ENST00000380881.4	-	10	2501	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	FREM1_ENST00000422223.2_Silent_p.I561I|FREM1_ENST00000380880.3_Silent_p.I561I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	561					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)		GAGGCTTTGTGATATTGAAGA	0.493000													45	64					0	0	0.000781405	0	0
NAV3	89795	broad.mit.edu	37	12	78583938	78583938	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:78583938C>T	ENST00000397909.2	+	34	6403	c.6230C>T	c.(6229-6231)tCt>tTt	p.S2077F	NAV3_ENST00000266692.7_Missense_Mutation_p.S1878F|NAV3_ENST00000228327.6_Missense_Mutation_p.S2055F|NAV3_ENST00000536525.2_Missense_Mutation_p.S2055F|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2077						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S2055F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATAACCAAATCTGGAAGGAAA	0.373000										HNSCC(70;0.22)			14	17					0	0	0.000219431	0	0
FLT4	2324	broad.mit.edu	37	5	180043924	180043924	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:180043924C>T	ENST00000261937.6	-	22	3150	c.3072G>A	c.(3070-3072)ggG>ggA	p.G1024G	FLT4_ENST00000502649.1_Silent_p.G1024G|FLT4_ENST00000393347.3_Silent_p.G1024G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1024	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGAACTCCATCCCTCTGGCCA	0.602000													22	95					0	0	0.001512	0	0
TRPM3	80036	broad.mit.edu	37	9	73477828	73477828	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:73477828G>A	ENST00000377110.2	-	3	701	c.458C>T	c.(457-459)gCc>gTc	p.A153V	TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.A153V|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.A155V|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.A155V|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	153						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATTACCATGGCTTTGTTGGA	0.468000													21	35					0	0	0.000586117	0	0
RBM11	54033	broad.mit.edu	37	21	15599441	15599441	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:15599441G>A	ENST00000400577.3	+	5	682	c.673G>A	c.(673-675)Gga>Aga	p.G225R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	225							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCTTGAGGCTGGACCCAGCTC	0.428000													33	196					0	0	0.00195071	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047310	46047310	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr21:46047310C>T	ENST00000397911.3	+	1	271	c.222C>T	c.(220-222)tcC>tcT	p.S74S	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	74	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCACCAGCTCCTGCACGCCCT	0.682000													26	99					0	0	0.00209593	0	0
ACACB	32	broad.mit.edu	37	12	109604784	109604784	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:109604784C>T	ENST00000338432.7	+	3	891	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	ACACB_ENST00000377848.3_Missense_Mutation_p.R258W|ACACB_ENST00000377854.5_Missense_Mutation_p.R258W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	258					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGGGGGATCGGGTCATCGA	0.612000													14	25					0	0	0.00185496	0	0
SLC24A1	9187	broad.mit.edu	37	15	65943172	65943172	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:65943172G>A	ENST00000261892.6	+	7	2972	c.2685G>A	c.(2683-2685)gaG>gaA	p.E895E	SLC24A1_ENST00000399033.4_Silent_p.E895E|SLC24A1_ENST00000339868.6_Silent_p.E877E|SLC24A1_ENST00000546330.1_Silent_p.E877E|SLC24A1_ENST00000537259.1_Silent_p.E877E|SLC24A1_ENST00000544319.2_Silent_p.E781E|SLC24A1_ENST00000449142.2_3'UTR	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	895					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAATGAAGAGCCTCTGTCCC	0.582000													9	37					0	0	0.000442599	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077304	23077304	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:23077304C>T	ENST00000390310.2	+	0	94																											CTCAGCCTCCCTCCGTGTCCG	0.567000													60	135					0	0	0.000781405	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176403	150176403	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:150176403C>A	ENST00000361875.2	+	4	3339	c.2323C>A	c.(2323-2325)Ccg>Acg	p.P775T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P751T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	775							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCACAGCAGCCGAATGTCTC	0.473000													7	47					5.18039e-06	2.31223e-05	0.000157383	1	0
ELFN2	114794	broad.mit.edu	37	22	37770222	37770222	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:37770222G>A	ENST00000402918.1	-	3	2138	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	ELFN2_ENST00000349653.3_Silent_p.S451S|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	451						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGTGCACAATGGAGCCGGCAT	0.642000													57	162					0	0	0.000781405	0	0
CAT	847	broad.mit.edu	37	11	34477732	34477732	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:34477732C>T	ENST00000241052.4	+	7	975	c.886C>T	c.(886-888)Cca>Tca	p.P296S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	296					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCCATTTAATCCATTCGATCT	0.353000													5	30					0	0	0.000602214	0	0
CDHR3	222256	broad.mit.edu	37	7	105656392	105656392	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:105656392C>T	ENST00000542731.1	+	11	1455	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Silent_p.I168I|CDHR3_ENST00000317716.9_Silent_p.I449I|CDHR3_ENST00000478080.1_Silent_p.I361I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	449	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACGTTTATATCCTAACAAGCC	0.338000													8	30					0	0	0.000673444	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr8:2813131C>T	ENST00000602557.1	-	65	10532	c.9977G>A	c.(9976-9978)gGa>gAa	p.G3326E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000													13	39					0	0	0.00185496	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58089046	58089046	+	RNA	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr17:58089046C>T	ENST00000407042.3	-	0	779																											CCCAGCCCATCGTGAAATCAG	0.612000													54	81					0	0	0.000781405	0	0
ASTN2	23245	broad.mit.edu	37	9	119770441	119770441	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:119770441G>A	ENST00000313400.4	-	7	1621	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	ASTN2_ENST00000361209.2_Silent_p.S456S|ASTN2_ENST00000373996.3_Silent_p.S507S|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCACCCATGGGGAGGTGGCAT	0.572000													22	28					0	0	0.001512	0	0
HAUS1	115106	broad.mit.edu	37	18	43698273	43698273	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:43698273C>T	ENST00000282058.6	+	3	412	c.332C>T	c.(331-333)tCg>tTg	p.S111L	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	111					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AAGGATACCTCGCTAGCTAGG	0.398000													18	58					0	0	0.00188189	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:228882709C>T	ENST00000392056.3	-	7	2907	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	954						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTTTTCCACTGGAGTT	0.493000													33	67					0	0	0.00111076	0	0
IKBIP	121457	broad.mit.edu	37	12	99020401	99020401	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:99020401G>A	ENST00000299157.4	-	3	814	c.441C>T	c.(439-441)agC>agT	p.S147S	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	149					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTCATTAAGGCTTTGCATCC	0.358000													37	103					0	0	0.00111076	0	0
OR2J2	26707	broad.mit.edu	37	6	29141830	29141830	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr6:29141830C>T	ENST00000377167.2	+	1	520	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGCACCCTCGTTTCTGCCA	0.468000													69	119					0	0	0.000781405	0	0
FSHR	2492	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:49190896G>A	ENST00000406846.2	-	10	1183	c.1064C>T	c.(1063-1065)cCa>cTa	p.P355L	FSHR_ENST00000541117.1_Missense_Mutation_p.P91L|FSHR_ENST00000304421.4_Missense_Mutation_p.P329L|FSHR_ENST00000346173.3_Missense_Mutation_p.P293L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453000									Gonadal Dysgenesis, 46 XX				17	47					0	0	0.000422831	0	0
FAM179A	165186	broad.mit.edu	37	2	29225440	29225440	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:29225440C>T	ENST00000379558.4	+	5	817	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	FAM179A_ENST00000403861.2_Silent_p.L156L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	156							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGTTCCCCTGCACAGCAC	0.627000													8	17					0	0	0.000442599	0	0
MARCH7	64844	broad.mit.edu	37	2	160605254	160605254	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:160605254C>T	ENST00000259050.3	+	5	1575	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	MARCH7_ENST00000409591.1_Missense_Mutation_p.R447W|MARCH7_ENST00000409175.1_Missense_Mutation_p.R485W|MARCH7_ENST00000539065.1_Missense_Mutation_p.R429W	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	485							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTCCTTATTCCGGTTTGCAGT	0.453000													93	273					0	0	0.000781405	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468235	61468235	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr18:61468235G>A	ENST00000398019.2	+	7	1058	c.733G>A	c.(733-735)Gac>Aac	p.D245N	SERPINB7_ENST00000336429.2_Missense_Mutation_p.D245N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D245N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D228N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	245					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCCTGAGAATGACCTCTCTGA	0.373000													18	50					0	0	0.00188189	0	0
KIAA1217	56243	broad.mit.edu	37	10	24817000	24817000	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:24817000G>A	ENST00000376451.2	+	9	2343	c.2083G>A	c.(2083-2085)Ggc>Agc	p.G695S	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G695S|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G977S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G695S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G977S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G695S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1012S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G932S			Q5T5P2	SKT_HUMAN	KIAA1217	1012					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCAGCCACAGGCCCACTGCC	0.502000													21	76					0	0	0.00127121	0	0
ZNF217	7764	broad.mit.edu	37	20	52198664	52198664	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:52198664G>A	ENST00000371471.2	-	2	1127	c.702C>T	c.(700-702)caC>caT	p.H234H	ZNF217_ENST00000302342.3_Silent_p.H234H			O75362	ZN217_HUMAN	zinc finger protein 217	234					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCACCTTGCGGTGCTCAATTA	0.522000													57	125					0	0	0.000781405	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:46652877C>T	ENST00000253255.5	-	1	6342	c.6343G>A	c.(6343-6345)Gaa>Aaa	p.E2115K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443000													14	45					0	0	0.00185496	0	0
IL16	3603	broad.mit.edu	37	15	81592044	81592044	+	Missense_Mutation	SNP	C	C	T	rs149410949		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr15:81592044C>T	ENST00000394660.2	+	14	2737	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	IL16_ENST00000302987.4_Missense_Mutation_p.R793C|IL16_ENST00000394652.2_Missense_Mutation_p.R92C|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	793					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCCTGGTTTCGCCAAAGCTT	0.562000													11	50					0	0	0.000978159	0	0
VPS41	27072	broad.mit.edu	37	7	38766557	38766557	+	Silent	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:38766557G>A	ENST00000310301.4	-	28	2490	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	VPS41_ENST00000395969.2_Silent_p.F787F	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	812					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCGGCAATGGAAGACCACCA	0.507000													10	62					0	0	0.000978159	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887587	12887587	+	Silent	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:12887587C>T	ENST00000535591.1	-	3	465	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTTTTGTTCCTCTTGGCAT	0.483000													81	294					0	0	0.000781405	0	0
HINT2	84681	broad.mit.edu	37	9	35813492	35813492	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr9:35813492G>A	ENST00000259667.5	-	3	318	c.277C>T	c.(277-279)Cct>Tct	p.P93S	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	93	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTTCTTAGGAATGACCAGG	0.587000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					0	0	0.00188189	0	0
ACSM4	341392	broad.mit.edu	37	12	7457123	7457123	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:7457123G>A	ENST00000399422.4	+	1	244	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	66					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTCCCAAAAGGAGAAGGTATA	0.453000													12	23					0	0	0.00136819	0	0
RPL37	6167	broad.mit.edu	37	5	40832606	40832606	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:40832606T>C	ENST00000509877.1	-	3	235	c.209A>G	c.(208-210)aAg>aGg	p.K70R	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000274242.5_Silent_p.*98*			P61927	RL37_HUMAN	ribosomal protein L37	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				GTTGACATTCTTAAGATGAAC	0.373000													70	304					0	0	0.000781405	0	0
DNAH1	25981	broad.mit.edu	37	3	52417967	52417967	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr3:52417967G>A	ENST00000420323.2	+	52	8503	c.8242G>A	c.(8242-8244)Gaa>Aaa	p.E2748K		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2748	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGGCCGGCAGAAGCCCTGAA	0.557000													11	21					0	0	0.000673444	0	0
IGIP	492311	broad.mit.edu	37	5	139508114	139508114	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:139508114C>T	ENST00000333305.3	+	1	2594	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	18						extracellular region											TGTAATATTACCATATTTGCT	0.383000													7	57					0	0	0.00198382	0	0
NFIA	4774	broad.mit.edu	37	1	61553830	61553830	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:61553830C>T	ENST00000403491.3	+	2	521	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	NFIA_ENST00000371184.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371189.4_Missense_Mutation_p.H58Y|NFIA_ENST00000371191.1_Missense_Mutation_p.H36Y|NFIA_ENST00000371185.2_Missense_Mutation_p.H13Y|NFIA_ENST00000485903.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371187.3_Missense_Mutation_p.H13Y|NFIA_ENST00000407417.3_Missense_Mutation_p.H5Y|NFIA_ENST00000479364.1_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	13					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGATGAATTTCATCCTTTCAT	0.378000													43	161					0	0	0.000781405	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627647	25627647	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr22:25627647G>A	ENST00000398215.2	+	6	697	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	176	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GGACAGCAGCGACTTTGGGGC	0.647000													27	83					0	0	0.00106085	0	0
HMGCR	3156	broad.mit.edu	37	5	74646750	74646750	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:74646750C>T	ENST00000287936.4	+	9	1073	c.917C>T	c.(916-918)tCc>tTc	p.S306F	HMGCR_ENST00000343975.5_Missense_Mutation_p.S306F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S306F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	306					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAAGTGTTTCCCTCTGGCAG	0.348000													72	233					0	0	0.000781405	0	0
FCAMR	83953	broad.mit.edu	37	1	207139141	207139141	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:207139141G>A	ENST00000324852.4	-	4	706	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	FCAMR_ENST00000450945.2_Missense_Mutation_p.P78S|FCAMR_ENST00000400962.3_Missense_Mutation_p.P78S	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	33	Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding (By similarity).					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GTCCTGGAGGGGAGAGAGCCC	0.607000													5	28					0	0	0.00116845	0	0
MRVI1	10335	broad.mit.edu	37	11	10651091	10651091	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr11:10651091G>A	ENST00000547195.1	-	4	795	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MRVI1_ENST00000421747.1_Missense_Mutation_p.P181S|MRVI1_ENST00000527509.2_Missense_Mutation_p.P99S|MRVI1_ENST00000531107.1_Missense_Mutation_p.P181S|MRVI1_ENST00000423302.2_Missense_Mutation_p.P190S|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.P181S|MRVI1_ENST00000541483.1_Missense_Mutation_p.P190S|MRVI1_ENST00000552103.1_Missense_Mutation_p.P99S	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	181					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTACCTGATGGGGAGTCTCCG	0.642000													14	23					0	0	0.00121646	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049619	81049619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr10:81049619G>A	ENST00000334512.5	+	9	1085	c.513G>A	c.(511-513)tgG>tgA	p.W171*	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	171					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCACGGTTTGGGGAGTAACCA	0.587000													12	73					0	0	0.000219431	0	0
CDK11B	984	broad.mit.edu	37	1	1573136	1573136	+	Silent	SNP	G	G	A	rs17434073		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:1573136G>A	ENST00000407249.3	-	14	1460	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDK11B_ENST00000340677.5_Silent_p.I474I|CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	497	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617000													44	264					0	0	0.000781405	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698599	17698599	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:17698599C>T	ENST00000399080.2	-	1	1107	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	362								p.D362N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTAGAGTCTCTTACATTA	0.378000													25	65					0	0	0.000720815	0	0
LCE5A	254910	broad.mit.edu	37	1	152484024	152484024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr1:152484024delA	ENST00000334269.2	+	2	190	c.14delA	c.(13-15)cgfs	p.Q5fs		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	5	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCCAGCAGAGCCAGCAG	0.488													14	56	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21224642	21224649	+	Frame_Shift_Del	DEL	TAGGGGTT	TAGGGGTT	-	rs145832414		TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr2:21224642_21224649delTAGGGGTT	ENST00000233242.1	-	29	13772_13779	c.13645_13652delAACCCCTA	c.(13645-13653)cfs	p.NPY4549fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4549					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGCTTCATGTAGGGGTTCATGACTGTG	0.356													58	306	---	---	---	---					
FEM1C	56929	broad.mit.edu	37	5	114860413	114860413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:114860413delG	ENST00000274457.3	-	3	2007	c.1446delC	c.(1444-1446)aafs	p.N482fs		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	482						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GAGGGCTGAAGTTATTCTTTC	0.398													7	69	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680962	137680967	+	In_Frame_Del	DEL	CCTGGC	CCTGGC	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:137680962_137680967delCCTGGC	ENST00000239906.5	+	4	1013_1018	c.585_590delCCTGGC	c.(583-591)agc>ag	p.SLA195del	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_In_Frame_Del_p.SLA195del|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	195										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTTCTTCAGCCTGGCCCTGGCCCAA	0.636													22	257	---	---	---	---					
ADRA1B	147	broad.mit.edu	37	5	159399204	159399204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr5:159399204delC	ENST00000306675.3	+	2	1391	c.1268delC	c.(1267-1269)tgfs	p.S423fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	423					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ACCCTGCCCTCGGCCTCGCCG	0.771													2	4	---	---	---	---					
CDK13	8621	broad.mit.edu	37	7	39991038	39991038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr7:39991038delC	ENST00000181839.4	+	1	1403	c.798delC	c.(796-798)agfs	p.S270fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.S270fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	270					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CCACATCCAGCAGCAGTAGCA	0.697													2	4	---	---	---	---					
PLXNC1	10154	broad.mit.edu	37	12	94673258	94673258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr12:94673258delT	ENST00000258526.4	+	22	3857	c.3608delT	c.(3607-3609)gcfs	p.V1204fs	PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.V251fs|PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1204					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCATTAAACGTCGTCTTTGAA	0.408													22	43	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)del	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													7	72	---	---	---	---					
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr16:85743879_85743881delGCT	ENST00000602583.1	-	1	575_577	c.25_27delAGC	c.(25-27)del	p.S9del	C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602675.1_5'UTR			Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635													3	6	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57829145	57829145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A26C-01A-11D-A19A-08	TCGA-GN-A26C-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2774050-1257-4c29-b201-d79ce70fe17e	ca8bfcec-4721-46d0-8c5a-7ac30d86e424	g.chr20:57829145delC	ENST00000371030.2	+	5	4381	c.4381delC	c.(4381-4383)ccfs	p.P1461fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1461						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCAACAGATCCCAAACCATA	0.527													33	43	---	---	---	---					
