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
SLC25A32	81034	broad.mit.edu	37	8	104419928	104419928	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:104419928C>A	ENST00000297578.4	-	2	405	c.239G>T	c.(238-240)gGa>gTa	p.G80V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	80					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTGATAAAGTCCCCGTAGTCC	0.393000													13	45					1.5842e-08	2.09609e-08	1	1	0
LHX8	431707	broad.mit.edu	37	1	75602803	75602803	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:75602803G>A	ENST00000294638.5	+	4	788	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LHX8_ENST00000356261.3_Missense_Mutation_p.G32R|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CGAGGGAGCGGGGGACGAGGA	0.721000													14	25					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955940	18955940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18955940C>G	ENST00000302797.3	-	1	616	c.392G>C	c.(391-393)cGc>cCc	p.R131P	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	131					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGGTGGCAGCGGTACCAGAT	0.607000													34	58					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239950	65239950	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:65239950A>C	ENST00000389722.3	-	24	5219	c.5166T>G	c.(5164-5166)ttT>ttG	p.F1722L	SPTB_ENST00000556626.1_Missense_Mutation_p.F1722L|SPTB_ENST00000542895.1_Missense_Mutation_p.F1722L|SPTB_ENST00000389720.3_Missense_Mutation_p.F1722L|SPTB_ENST00000389721.5_Missense_Mutation_p.F1722L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1722					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)		TCACGTGGTCAAAGTCTTGCC	0.537000													6	33					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3421856	3421856	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:3421856G>A	ENST00000356575.4	-	17	2330	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	MEGF6_ENST00000294599.4_Missense_Mutation_p.P597S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	702						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)		ACGCCCACTGGGCAGGTGCAT	0.692000													13	33					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849364	106849364	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:106849364C>G	ENST00000526355.1	-	3	936	c.468G>C	c.(466-468)caG>caC	p.Q156H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q156H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q156H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	156					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TAGCAGTACACTGAAGAATTC	0.368000													4	17					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502571	33502571	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33502571C>T	ENST00000265371.4	-	10	1882	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	NRP1_ENST00000374823.5_Missense_Mutation_p.G453R|NRP1_ENST00000395995.1_Missense_Mutation_p.G453R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.G453R|NRP1_ENST00000374816.3_Missense_Mutation_p.G453R|NRP1_ENST00000374867.2_Missense_Mutation_p.G453R|NRP1_ENST00000374821.5_Missense_Mutation_p.G453R			O14786	NRP1_HUMAN	neuropilin 1	453	F5/8 type C 2.				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)	TTTCTGTCCCCTTGGTTGGAT	0.488000													22	56					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122337708	122337708	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:122337708A>T	ENST00000513881.1	+	6	567	c.451A>T	c.(451-453)Acc>Tcc	p.T151S	SNX24_ENST00000261369.4_Intron|SNX24_ENST00000395451.4_Intron|SNX24_ENST00000506996.1_Missense_Mutation_p.T151S			Q9Y343	SNX24_HUMAN	sorting nexin 24	0					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CGGTAATCAAACCTGTCATCT	0.488000													15	33					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515058	233515058	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:233515058A>G	ENST00000366624.3	+	9	2567	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	MLK4_ENST00000366622.1_Missense_Mutation_p.K215R	NM_032435.2	NP_115811.2																					CGGGCTTCCAAGTCCCGCAGA	0.602000													15	50					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101785	9101785	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:9101785G>T	ENST00000377414.3	-	5	697	c.630C>A	c.(628-630)ctC>ctA	p.L210L	SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000377424.4_Intron|SLC2A5_ENST00000535586.1_Intron	NM_001135585.1	NP_001129057.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	43					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACACAAGGAGGGGGCCAA	0.572000													11	20					1.58986e-06	1.98733e-06	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40366589	40366589	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:40366589C>A	ENST00000406785.1	-	7	2578	c.2389G>T	c.(2389-2391)Gat>Tat	p.D797Y	SLC8A1_ENST00000406391.2_Missense_Mutation_p.D797Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D828Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D825Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D797Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D833Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D833Y|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D828Y|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					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)	GTCACAGAATCTTTCAGGCCA	0.483000													7	22					8.12818e-05	9.43982e-05	1	1	0
CLIC5	53405	broad.mit.edu	37	6	45870951	45870951	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:45870951C>T	ENST00000185206.6	-	6	1259	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIC5_ENST00000339561.6_Silent_p.E210E	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	369	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGCCTGTCATCTCAGCCGGGA	0.502000													12	26					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683164	67683164	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:67683164C>T	ENST00000334583.6	+	19	2024	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	RLTPR_ENST00000545661.1_Silent_p.L530L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	566										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGAGACCCTGGACGACGT	0.642000													8	9					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104123467	104123467	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:104123467C>G	ENST00000369983.3	+	17	2275	c.2014_splice	c.e17-1	p.A672_splice		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	672					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTACTCCTAGCTGACAAAAAG	0.423000													18	53					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431352	110431352	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110431352T>A	ENST00000378402.5	+	22	2491	c.2387T>A	c.(2386-2388)cTg>cAg	p.L796Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	796					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)			ATAGACCTTCTGGATCTCGTA	0.363000										HNSCC(38;0.096)			6	19					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404222	124404222	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:124404222A>G	ENST00000303921.2	-	1	1459	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	270						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAAGATCACCACGGACAG	0.587000													15	36					0	0	1	0	0
BHLHE41	79365	broad.mit.edu	37	12	26277471	26277471	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:26277471A>G	ENST00000242728.4	-	2	454	c.107T>C	c.(106-108)aTg>aCg	p.M36T		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	36					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GTCTCGTTTCATGCTCCTTTT	0.478000													16	31					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	12					6.4e-05	7.46929e-05	1	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76968228	76968228	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:76968228G>C	ENST00000262776.3	-	6	1496	c.1188C>G	c.(1186-1188)ggC>ggG	p.G396G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	396					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGAGGTTCAGGCCTTTGTACC	0.577000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393257	179393257	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179393257G>T	ENST00000589042.1	-	360	107445	c.107221C>A	c.(107221-107223)Cca>Aca	p.P35741T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P34100T|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26676T|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26868T|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26801T|TTN_ENST00000342992.6_Missense_Mutation_p.P33173T|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34100							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)			AAACTTACTGGCAGGTTGTTT	0.323000													5	5					1	1	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103480122	103480122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103480122C>G	ENST00000358392.2	-	13	1870	c.1553G>C	c.(1552-1554)gGa>gCa	p.G518A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G390A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G467A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G506A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	506	Telopeptide.				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)		GATGGTTGGTCCTTTGGAACC	0.418000													6	13					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301620	113301620	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113301620C>A	ENST00000297405.5	-	57	9366	c.9122G>T	c.(9121-9123)tGg>tTg	p.W3041L	CSMD3_ENST00000455883.2_Missense_Mutation_p.W2872L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3001L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W2971L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3041	Sushi 21.					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						TGATCCACTCCAATGGCCATT	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	30					3.07112e-06	3.78904e-06	1	1	0
GPR116	221395	broad.mit.edu	37	6	46847685	46847685	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46847685C>T	ENST00000283296.7	-	9	1194	c.906G>A	c.(904-906)gtG>gtA	p.V302V	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Silent_p.V302V|GPR116_ENST00000362015.4_Silent_p.V302V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	302	Ig-like 1.				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)			AGCGCCAAGACACATTGGAGG	0.443000													20	17					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919377	215919377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215919377C>T	ENST00000272895.7	-	4	548	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	110					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGATGACTTTCTCAGAATCTC	0.403000													14	34					0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64438807	64438807	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:64438807A>T	ENST00000282869.5	-	4	2426	c.1142T>A	c.(1141-1143)aTa>aAa	p.I381K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	381						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGGATTATCTTATGTGT	0.388000													21	38					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553197	44553197	+	Missense_Mutation	SNP	G	G	C	rs143889287		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:44553197G>C	ENST00000289547.4	-	20	3984	c.3929C>G	c.(3928-3930)gCg>gGg	p.A1310G	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1283G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1237G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1310					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)	TGCTGCCACCGCCTCCTCAGC	0.582000													16	47					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584024	82584024	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:82584024G>T	ENST00000423517.2	-	5	6582	c.6245C>A	c.(6244-6246)cCa>cAa	p.P2082Q	PCLO_ENST00000333891.8_Missense_Mutation_p.P2082Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2013					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						GGCCTGGGTTGGGCTAGATCC	0.463000													9	32					0.000274275	0.000309455	1	1	0
FAM110B	90362	broad.mit.edu	37	8	59059284	59059284	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:59059284C>A	ENST00000361488.3	+	5	1375	c.495C>A	c.(493-495)gtC>gtA	p.V165V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	165						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCTGAAGGTCTACCCCACGC	0.697000													12	22					0.010729	0.0113503	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102038465	102038465	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:102038465G>T	ENST00000549145.1	+	11	920	c.820G>T	c.(820-822)Gca>Tca	p.A274S	MYBPC1_ENST00000550270.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A235S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A248S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A247S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A242S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A249S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A162S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A261S			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	261	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						TCTTGATCCTGCATATCAGGT	0.353000													10	16					0.000442599	0.00049467	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406769	138406769	+	Splice_Site	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:138406769A>T	ENST00000310018.2	-	19	2294	c.2010_splice	c.e19-1	p.L671_splice	ATP6V0A4_ENST00000393054.1_Splice_Site_p.L671_splice|ATP6V0A4_ENST00000353492.4_Splice_Site_p.L671_splice	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	671					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATGCCTGCAGCTGACAACA	0.463000													7	16					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2113530	2113530	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:2113530C>A	ENST00000280665.6	-	1	147	c.68G>T	c.(67-69)cGc>cTc	p.R23L	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	23					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GGGGTCGTGGCGCTGCAGGGC	0.692000													88	33					3.3814e-41	5.5964e-41	1	1	0
TTN	7273	broad.mit.edu	37	2	179576741	179576741	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179576741A>C	ENST00000589042.1	-	96	28040	c.27816T>G	c.(27814-27816)agT>agG	p.S9272R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8955R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8028R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8955	Ig-like 76.						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)			TATATTCTCCACTATCATTAA	0.353000													5	25					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182275	140182275	+	Missense_Mutation	SNP	G	G	T	rs145659233		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140182275G>T	ENST00000522353.2	+	1	1493	c.1493G>T	c.(1492-1494)cGg>cTg	p.R498L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.R498L|PCDHA2_ENST00000520672.2_Intron|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)			GTGGAACGGCGGGTGGGGGAG	0.682000													81	113					7.31121e-38	1.20584e-37	1	1	0
TNN	63923	broad.mit.edu	37	1	175092695	175092695	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:175092695G>C	ENST00000239462.4	+	12	2923	c.2810G>C	c.(2809-2811)aGc>aCc	p.S937T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	937	Fibronectin type-III 8.				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)		GAGCACAGCAGCACTGTCCTG	0.627000													14	40					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212468	62212468	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:62212468G>T	ENST00000519846.1	+	3	554	c.82G>T	c.(82-84)Gct>Tct	p.A28S	CLVS1_ENST00000325897.4_Missense_Mutation_p.A28S|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	28					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCATTTACAGGCTGGACTCAG	0.448000													14	12					9.31168e-06	1.11693e-05	1	1	0
GPA33	10223	broad.mit.edu	37	1	167032959	167032959	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032959G>T	ENST00000367868.3	-	4	774	c.431C>A	c.(430-432)cCa>cAa	p.P144Q	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCGCATTCTGGTTTGGAGGG	0.577000													18	44					5.26018e-13	7.88197e-13	1	1	0
OR2L3	391192	broad.mit.edu	37	1	248224437	248224437	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248224437T>A	ENST00000359959.3	+	1	454	c.454T>A	c.(454-456)Tcg>Acg	p.S152T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			GATCATAGGCTCGATCAATGC	0.433000													32	67					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581190	7581190	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:7581190C>T	ENST00000379802.3	+	23	5108	c.4767C>T	c.(4765-4767)tgC>tgT	p.C1589C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1589	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)		AAGACTCCTGCAAGAGGAAGA	0.557000													11	23					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3161029	3161029	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:3161029A>G	ENST00000381075.2	+	17	1698	c.1474A>G	c.(1474-1476)Atc>Gtc	p.I492V	PFKP_ENST00000381125.4_Missense_Mutation_p.I500V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	500					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CACGCACAGCATCAACGCGCT	0.547000													15	39					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389021	160389021	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:160389021G>C	ENST00000368061.2	+	4	896	c.422G>C	c.(421-423)tGc>tCc	p.C141S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	141					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAGCCTTGCGGGACGGCC	0.677000													19	54					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63898298	63898298	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:63898298A>G	ENST00000392769.2	-	20	2353	c.2135T>C	c.(2134-2136)aTt>aCt	p.I712T	CEP112_ENST00000541355.1_Missense_Mutation_p.I347T|CEP112_ENST00000537949.1_Missense_Mutation_p.I670T|CEP112_ENST00000535342.2_Missense_Mutation_p.I712T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	712						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAACTCCTGAATTTGATTTTC	0.378000													8	22					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671513	49671513	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:49671513A>G	ENST00000561648.1	-	4	1603	c.1550T>C	c.(1549-1551)tTc>tCc	p.F517S	ZNF423_ENST00000563137.2_Missense_Mutation_p.F457S|ZNF423_ENST00000535559.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562520.1_Missense_Mutation_p.F457S|ZNF423_ENST00000262383.2_Missense_Mutation_p.F517S|ZNF423_ENST00000567169.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562871.1_Missense_Mutation_p.F457S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	517					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)				GTTGCAGAAGAAAGCATTATT	0.577000													22	16					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570512	17570512	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:17570512T>C	ENST00000375471.4	+	16	1858	c.1766T>C	c.(1765-1767)aTg>aCg	p.M589T	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.M104T|PADI1_ENST00000536552.1_Missense_Mutation_p.M60T|PADI1_ENST00000537499.1_Missense_Mutation_p.M146T	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	589					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGGTTAACATGGTGGTCTTA	0.582000													7	17					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43030034	43030034	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:43030034G>A	ENST00000316099.3	+	1	111	c.22G>A	c.(22-24)Gtc>Atc	p.V8I	HNF4A_ENST00000443598.2_Missense_Mutation_p.V8I|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.V8I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	8					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAAAACCCTCGTCGACATGGA	0.642000													44	58					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53266975	53266975	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:53266975T>C	ENST00000262593.5	+	8	1228	c.878T>C	c.(877-879)cTt>cCt	p.L293P	DOK5_ENST00000395939.1_Missense_Mutation_p.L185P	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	293							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCTCTGAAGCTTCATCGAACA	0.403000													9	20					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887610	9887610	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:9887610A>G	ENST00000306084.6	+	2	1333	c.1134A>G	c.(1132-1134)ccA>ccG	p.P378P	TXNDC2_ENST00000357775.4_Silent_p.P311P|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	378	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAAGTCTCCAAAACAAGCCA	0.552000													448	62					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183177	167183177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:167183177G>C	ENST00000476257.1	-	6	981	c.683C>G	c.(682-684)tCt>tGt	p.S228C	SERPINI2_ENST00000461846.1_Missense_Mutation_p.S228C|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S228C|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S228C			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	228					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GGAAGATTCAGAAAAATAACC	0.313000													12	23					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182344897	182344897	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:182344897T>C	ENST00000397033.2	+	6	1088	c.658T>C	c.(658-660)Tac>Cac	p.Y220H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	220					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGATCATCTTACTGGACTGG	0.328000													4	15					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577142C>A	ENST00000420246.2	-	8	928	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517000		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)			5	14					0.0293803	0.0304045	1	1	0
BSND	7809	broad.mit.edu	37	1	55474122	55474122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:55474122G>A	ENST00000371265.4	+	4	1038	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	262						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GTGGGAAATAGCCCTGCCCAA	0.597000													8	20					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293705	71293705	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:71293705C>T	ENST00000398530.1	-	1	216	c.179G>A	c.(178-180)tGt>tAt	p.C60Y	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	60	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAGCCCCCACAGGAGCCACA	0.637000													70	162					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669344	80669344	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:80669344C>A	ENST00000557010.1	-	4	895	c.510G>T	c.(508-510)tgG>tgT	p.W170C	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.W170C|DIO2_ENST00000555750.1_Missense_Mutation_p.W206C|DIO2_ENST00000557125.1_Missense_Mutation_p.G45V	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	170					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCGGTATCGCCCAGCCATCTG	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					9.31168e-06	1.11693e-05	1	1	0
MYH6	4624	broad.mit.edu	37	14	23869490	23869490	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:23869490T>C	ENST00000405093.3	-	14	1626	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	MYH6_ENST00000356287.3_Missense_Mutation_p.Q519R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	519	Myosin head-like.				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)		AATGCAGGCCTGCAGGTCCAT	0.552000													18	36					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766826	172766826	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172766826G>A	ENST00000351008.3	-	3	854	c.671C>T	c.(670-672)gCa>gTa	p.A224V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	224					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCCACGCTTGCTATATCTTC	0.383000													9	20					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521324	33521324	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:33521324C>A	ENST00000297307.5	-	1	88	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	1						integral to membrane											GACTGCCAGCCATCTTTCCTT	0.627000													11	32					0.000978159	0.00108052	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70478250	70478250	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:70478250G>T	ENST00000381280.4	+	9	1159	c.906G>T	c.(904-906)gaG>gaT	p.E302D	SMOC1_ENST00000361956.3_Missense_Mutation_p.E302D	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	302					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGACTACAGAGGCGGATGACC	0.602000													6	39					0.00307968	0.00334748	1	1	0
NDRG2	57447	broad.mit.edu	37	14	21486369	21486369	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21486369C>A	ENST00000556147.1	-	14	1831	c.891G>T	c.(889-891)ctG>ctT	p.L297L	NDRG2_ENST00000360463.3_Silent_p.L283L|NDRG2_ENST00000397858.1_Silent_p.L297L|NDRG2_ENST00000298684.5_Silent_p.L254L|NDRG2_ENST00000397856.3_Silent_p.L267L|NDRG2_ENST00000298687.5_Silent_p.L297L|NDRG2_ENST00000397844.2_Silent_p.L267L|NDRG2_ENST00000403829.3_Silent_p.L293L|NDRG2_ENST00000397847.2_Silent_p.L286L|NDRG2_ENST00000554143.1_Silent_p.L283L|NDRG2_ENST00000554104.1_Silent_p.L210L|NDRG2_ENST00000397851.2_Silent_p.L297L|NDRG2_ENST00000397853.3_Silent_p.L297L|NDRG2_ENST00000350792.3_Silent_p.L283L|NDRG2_ENST00000397855.3_Silent_p.L254L|NDRG2_ENST00000555158.1_Silent_p.L283L|NDRG2_ENST00000553503.1_Silent_p.L283L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	297					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)		TCACCTGAGTCAGCTGGGGCT	0.592000													13	22					9.31168e-06	1.11693e-05	1	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195471	18195471	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18195471T>A	ENST00000314254.3	+	1	1088	c.668T>A	c.(667-669)cTg>cAg	p.L223Q	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	223						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						CTCACAGTGCTGGTCTTCCTC	0.537000													15	30					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924659	94924659	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:94924659T>G	ENST00000536441.1	-	3	587	c.251A>C	c.(250-252)cAg>cCg	p.Q84P	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q6P|SESN3_ENST00000393234.1_Missense_Mutation_p.Q84P|SESN3_ENST00000416495.2_Missense_Mutation_p.Q84P	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	84					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CTCCAGGTACTGAGTGTGTAA	0.463000													19	39					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016587	121016587	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:121016587C>T	ENST00000392793.1	+	12	4138	c.3867C>T	c.(3865-3867)gcC>gcT	p.A1289A	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.A1289A			O75443	TECTA_HUMAN	tectorin alpha	1289	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTCCTGTGCCAAGGTGGAAG	0.572000													17	52					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910124	57910124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:57910124G>T	ENST00000366197.5	+	3	719	c.469G>T	c.(469-471)Gag>Tag	p.E157*	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E169*	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATGCATGGAGGGCTGGAA	0.517000													27	17					2.47511e-08	3.26577e-08	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2942464	2942464	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:2942464A>C	ENST00000397461.1	+	10	1420	c.1036A>C	c.(1036-1038)Aca>Cca	p.T346P	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Missense_Mutation_p.T18P|CNTN4_ENST00000358480.3_Missense_Mutation_p.T127P|CNTN4_ENST00000418658.1_Missense_Mutation_p.T346P|CNTN4_ENST00000427331.1_Missense_Mutation_p.T346P|CNTN4_ENST00000448906.2_Missense_Mutation_p.T18P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	346	Ig-like C2-type 4.				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)		GCCTAAGCCTACATACAAGTG	0.373000													16	15					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157062	97157062	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:97157062A>T	ENST00000287020.5	-	2	1196	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	366					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTCCCAGCCCAGCTCCTTGAA	0.652000													10	25					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478710	85478710	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:85478710G>C	ENST00000394573.1	+	15	1744	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G	SLC28A1_ENST00000537216.1_Silent_p.G514G|SLC28A1_ENST00000537624.1_Silent_p.G514G|SLC28A1_ENST00000286749.3_Silent_p.G514G|SLC28A1_ENST00000538177.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	514					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTGGCAGGGGCCGAGGAGT	0.612000													37	74					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302796	104302796	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:104302796C>T	ENST00000389120.3	+	4	412	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	108					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCGTATCATCCTTAAACGTTA	0.428000													8	14					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28251692	28251692	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:28251692G>C	ENST00000405948.2	+	2	522	c.102G>C	c.(100-102)gaG>gaC	p.E34D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E34D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	34					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTCACAGGAGGGCAGCTCCC	0.577000													13	49					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67589039	67589039	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67589039G>A	ENST00000478722.1	+	17	2814	c.1693G>A	c.(1693-1695)Gca>Aca	p.A565T	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.A578T|GPHN_ENST00000305960.9_Missense_Mutation_p.A501T|GPHN_ENST00000315266.5_Missense_Mutation_p.A532T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	532	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTCTTCTAGCAACAATTCA	0.383000			T	MLL	AL								6	20					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105183003	105183003	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:105183003G>T	ENST00000257700.2	+	4	653	c.422G>T	c.(421-423)tGg>tTg	p.W141L	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	141					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCAACCTTGGATGGACGAT	0.393000													12	27					1.05317e-09	1.45002e-09	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3173972	3173972	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:3173972G>T	ENST00000356443.4	-	8	1471	c.1138C>A	c.(1138-1140)Cgc>Agc	p.R380S	MYOM1_ENST00000261606.7_Missense_Mutation_p.R380S|MYOM1_ENST00000400569.3_Missense_Mutation_p.R380S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	380						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGTGGAAGCGAGTCTCATCA	0.393000													17	135					3.52763e-06	4.32978e-06	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18022216	18022216	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:18022216G>T	ENST00000205890.5	+	2	440	c.102G>T	c.(100-102)tcG>tcT	p.S34S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	34	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)					AGGGGACGTCGCGGCTGTTCA	0.627000													9	13					0.000442599	0.00049467	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237560	140237560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140237560C>T	ENST00000307360.5	+	1	1927	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCGCCACGCCAGCGCCT	0.657000													18	45					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160908397	160908397	+	RNA	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:160908397G>A	ENST00000335388.5	-	0	575					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)		CTGACTTTGGGATCCGTTGTA	0.498000													9	31					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6742601	6742601	+	Splice_Site	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:6742601A>T	ENST00000230859.6	+	5	387		c.e5-1			NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7						cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAATCTTTACAGGTACCAATA	0.428000													7	19					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152679534	152679534	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152679534G>T	ENST00000367255.5	-	66	11183	c.10582C>A	c.(10582-10584)Cat>Aat	p.H3528N	SYNE1_ENST00000423061.1_Missense_Mutation_p.H3535N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3528N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H3499N|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3535N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3528					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)		GTTGTCTCATGAGTGTGGGCA	0.403000										HNSCC(10;0.0054)			13	40					1.15088e-07	1.48956e-07	1	1	0
OLFM3	118427	broad.mit.edu	37	1	102270115	102270115	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:102270115G>T	ENST00000370103.4	-	6	1269	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S372R	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	372	Olfactomedin-like.					extracellular region				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)		GGTTAAGTTGGCTGATGACAA	0.488000													13	27					7.03913e-09	9.47191e-09	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121759078	121759078	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:121759078C>T	ENST00000261367.7	+	6	2215	c.787C>T	c.(787-789)Cct>Tct	p.P263S	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P216S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P216S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	216					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)		CGTGAAAAGCCCTCACTTGAG	0.483000													14	45					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44982102	44982102	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44982102C>A	ENST00000221327.4	-	5	877	c.596G>T	c.(595-597)aGt>aTt	p.S199I	ZNF180_ENST00000592529.1_Missense_Mutation_p.S172I|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000391956.4_Missense_Mutation_p.S174I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTCAGACCACTCTTCTCCCC	0.383000													8	27					0.000274275	0.000309455	1	1	0
ZYG11B	79699	broad.mit.edu	37	1	53237308	53237308	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:53237308G>T	ENST00000294353.6	+	3	958	c.813G>T	c.(811-813)ctG>ctT	p.L271L	ZYG11B_ENST00000443756.2_Silent_p.L271L|ZYG11B_ENST00000545132.1_Silent_p.L271L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	271							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TTGTTTCTCTGGATGTTTCTG	0.403000													11	28					3.07112e-06	3.78904e-06	1	1	0
GPR110	266977	broad.mit.edu	37	6	46977481	46977481	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46977481T>A	ENST00000371253.2	-	11	1905	c.1690A>T	c.(1690-1692)Act>Tct	p.T564S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T367S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	564	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTCAAGTGAGTACATTGGCAC	0.468000													9	26					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467434	168467434	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:168467434C>G	ENST00000283309.6	-	4	526		c.e4+1		FRMD1_ENST00000537786.1_Splice_Site|FRMD1_ENST00000440994.2_Splice_Site	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1							cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CATGCCGTTACCTTATGACCC	0.507000													5	20					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958928	10958928	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:10958928A>G	ENST00000240615.2	-	1	964	c.652T>C	c.(652-654)Tat>Cat	p.Y218H		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	218					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGGTAGCATAGAGTTTTATT	0.343000													5	56					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26507984	26507984	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:26507984C>G	ENST00000376261.3	+	4	802	c.299C>G	c.(298-300)gCg>gGg	p.A100G	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Missense_Mutation_p.A100G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	100					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	p.A100V(1)		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)	CTGCTGCCGGCGTGTGATGGA	0.358000													11	19					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112996988	112996988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:112996988C>T	ENST00000495514.1	+	10	2290	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	BOC_ENST00000355385.3_Missense_Mutation_p.A529V|BOC_ENST00000273395.4_Missense_Mutation_p.A530V|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	529	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCATTCCAGCCAACCAGCAC	0.572000													52	142					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18633556	18633556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:18633556C>T	ENST00000406451.3	+	6	709	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	HDAC9_ENST00000417496.2_Nonsense_Mutation_p.Q229*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000456174.2_Nonsense_Mutation_p.Q159*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.Q154*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.Q218*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q187*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	187	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCATTGGATCAAAGCTCTCC	0.433000													27	67					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581663	55581663	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:55581663G>T	ENST00000361849.3	-	34	6223	c.5829C>A	c.(5827-5829)gtC>gtA	p.V1943V	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1941V|PCDH15_ENST00000437009.1_Silent_p.V1872V|PCDH15_ENST00000373957.3_Silent_p.V795V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1938V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Silent_p.V1918V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.V1901V	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1941					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)				CAGTTCCCTCGACAATATTGT	0.363000										HNSCC(58;0.16)			11	25					0.000673444	0.000749147	1	1	0
CDH18	1016	broad.mit.edu	37	5	19483503	19483503	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19483503C>A	ENST00000507958.1	-	14	2779	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L	CDH18_ENST00000274170.4_Missense_Mutation_p.V597L|CDH18_ENST00000382275.1_Missense_Mutation_p.V597L|CDH18_ENST00000502796.1_Silent_p.V560V|CDH18_ENST00000506372.1_Silent_p.V561V			Q13634	CAD18_HUMAN	cadherin 18, type 2	597	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAGGTCCGCACACGCCCATCT	0.527000													4	17					0.00909568	0.00966543	1	1	0
GPA33	10223	broad.mit.edu	37	1	167032958	167032958	+	Silent	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032958T>C	ENST00000367868.3	-	4	775	c.432A>G	c.(430-432)ccA>ccG	p.P144P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGCCGCATTCTGGTTTGGAGG	0.577000													17	46					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448810	99448810	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:99448810C>A	ENST00000397899.2	-	5	872		c.e5+1		KIAA1211L_ENST00000462314.1_Splice_Site	NM_207362.2	NP_997245.2			KIAA1211-like																		GCCGCACTTGCCTTTATGGTG	0.622000													21	50					7.45023e-12	1.08222e-11	1	1	0
FAM50B	26240	broad.mit.edu	37	6	3850626	3850626	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:3850626G>T	ENST00000380274.1	+	1	1007	c.581G>T	c.(580-582)gGc>gTc	p.G194V	FAM50B_ENST00000380272.3_Missense_Mutation_p.G194V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	194						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TACTGGGACGGCTCGGGCCAC	0.662000													29	76					1.06801e-11	1.54196e-11	1	1	0
TYK2	7297	broad.mit.edu	37	19	10463625	10463625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10463625C>G	ENST00000525621.1	-	22	3658	c.3177G>C	c.(3175-3177)gaG>gaC	p.E1059D	TYK2_ENST00000264818.6_Missense_Mutation_p.E1059D|TYK2_ENST00000524462.1_Missense_Mutation_p.E874D|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1059	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTCCCCATCCTCGCGCACGC	0.652000													29	42					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000229	56000229	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56000229T>A	ENST00000313264.4	-	1	508	c.433A>T	c.(433-435)Agt>Tgt	p.S145C		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTTCCAAAACTACAAGCAAGA	0.408000													21	31					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34066606	34066606	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:34066606C>T	ENST00000382499.2	-	6	837	c.838G>A	c.(838-840)Gac>Aac	p.D280N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D280N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D241N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D241N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D241N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	241	SAC.						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						GAAACTGAGTCATCTAAGTAC	0.313000													3	9					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176665487	176665487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176665487G>T	ENST00000439151.2	+	7	4216	c.4171G>T	c.(4171-4173)Gaa>Taa	p.E1391*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1288*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1122*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1122*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1391					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAGTCTGAGGAATTGCTAGT	0.493000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			27	66					3.80469e-20	6.10551e-20	1	1	0
ECE1	1889	broad.mit.edu	37	1	21616667	21616667	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:21616667G>A	ENST00000264205.6	-	1	83	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	ECE1_ENST00000415912.2_Intron|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000374893.6_Intron	NM_001113349.1	NP_001106820.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	12					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCCAAATGCAGCACGGACTCC	0.721000													5	7					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823233	10823233	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10823233G>A	ENST00000250237.5	+	7	800	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	264					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCCCAGCTATGCCACTGATCT	0.627000													45	69					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19526188	19526188	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:19526188A>C	ENST00000375267.2	-	3	338	c.335T>G	c.(334-336)cTc>cGc	p.L112R	UBR4_ENST00000375254.3_Missense_Mutation_p.L112R|UBR4_ENST00000375217.2_Missense_Mutation_p.L112R|UBR4_ENST00000375226.2_Missense_Mutation_p.L112R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	112					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGACGCAGGAGAGAAAACTC	0.468000													13	22					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044291	33044291	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:33044291C>T	ENST00000286835.7	-	20	3247	c.2865G>A	c.(2863-2865)gcG>gcA	p.A955A	SCAF4_ENST00000399804.1_Silent_p.A933A|SCAF4_ENST00000434667.3_Silent_p.A940A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	955						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						gttgctggggcgcctgcggct	0.652000													39	81					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769917	43769917	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:43769917T>C	ENST00000389420.3	-	35	5254	c.5255A>G	c.(5254-5256)aAg>aGg	p.K1752R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1752	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATATTCCTTAGGGTTCTC	0.328000													2	3					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750711	79750711	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:79750711G>T	ENST00000305428.3	+	2	2297	c.2222G>T	c.(2221-2223)cGt>cTt	p.R741L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	741						integral to membrane		p.R741L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TATACCAACCGTGTGGGCCTC	0.463000													13	26					1.49906e-05	1.78908e-05	1	1	0
PTPRB	5787	broad.mit.edu	37	12	71016240	71016240	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:71016240T>C	ENST00000334414.6	-	3	682	c.638A>G	c.(637-639)cAc>cGc	p.H213R	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.H213R|PTPRB_ENST00000551525.1_Missense_Mutation_p.H212R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGTCATGTGCAGATTGGG	0.498000													11	25					0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28849322	28849322	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28849322C>T	ENST00000225724.5	+	9	751	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	GOSR1_ENST00000581721.1_Missense_Mutation_p.R213W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R162W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R225W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	227					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CCTGAGGAAGCGGCGGGACTC	0.488000													71	145					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687612	158687612	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:158687612G>T	ENST00000368146.1	-	1	341	c.342C>A	c.(340-342)atC>atA	p.I114I	OR6K3_ENST00000368145.1_Silent_p.I98I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	114					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)					ACATCTGCAAGATGCAGCCAG	0.478000													34	60					2.08457e-15	3.1941e-15	1	1	0
TSPAN10	83882	broad.mit.edu	37	17	79609410	79609410	+	RNA	SNP	G	G	T	rs7406219	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:79609410G>T	ENST00000328585.4	+	0	62					NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657000													5	63					0.248553	0.251732	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234041452	234041452	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:234041452C>A	ENST00000366618.3	+	2	376	c.231C>A	c.(229-231)atC>atA	p.I77I		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					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)			AGGAGCGGATCCTGCGCATCA	0.592000													31	56					3.67414e-24	5.97677e-24	1	1	0
PYGO1	26108	broad.mit.edu	37	15	55839092	55839092	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:55839092G>T	ENST00000302000.6	-	3	483	c.389C>A	c.(388-390)cCa>cAa	p.P130Q	PYGO1_ENST00000563719.1_Missense_Mutation_p.P130Q	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	130	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTGAGGAAATGGGTGTGGCTG	0.448000													16	39					3.45872e-05	4.08679e-05	1	1	0
ACTC1	70	broad.mit.edu	37	15	35085545	35085545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:35085545C>T	ENST00000290378.4	-	3	1010	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	119					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)		GTCATCTTCTCCCGGTTGGCC	0.582000													36	49					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524900	74524900	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:74524900G>T	ENST00000422840.2	-	8	1447	c.1449_splice	c.e8+1	p.A483_splice	GLG1_ENST00000447066.2_Splice_Site_p.A472_splice|GLG1_ENST00000205061.5_Splice_Site_p.A483_splice	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	483						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCCTTACCGCCTGCTGGCA	0.478000													16	21					3.32936e-07	4.22846e-07	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73962345	73962345	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73962345G>T	ENST00000373468.1	-	3	2698	c.2047C>A	c.(2047-2049)Cct>Act	p.P683T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P683T			Q5QGS0	K2022_HUMAN	KIAA2022	683					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			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						GCACAGCTAGGAGCACCCAGA	0.438000													8	7					5.18039e-06	6.29331e-06	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74350822	74350822	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:74350822C>A	ENST00000263665.6	-	14	1948	c.1921G>T	c.(1921-1923)Gtg>Ttg	p.V641L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V641L(1)		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)		TGCCAACCCACGGAGAAAGGT	0.448000													11	20					1.58986e-06	1.98733e-06	1	1	0
SNX14	57231	broad.mit.edu	37	6	86257088	86257088	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:86257088G>C	ENST00000314673.3	-	11	1116	c.940C>G	c.(940-942)Cct>Gct	p.P314A	SNX14_ENST00000369627.2_Missense_Mutation_p.P314A|SNX14_ENST00000505648.1_Missense_Mutation_p.P262A|SNX14_ENST00000513865.1_Missense_Mutation_p.P314A|SNX14_ENST00000346348.3_Missense_Mutation_p.P270A|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	314					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)		GGAACCAAAGGAGAAGCCGGT	0.318000													3	7					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274980	98274980	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:98274980G>A	ENST00000289228.5	-	6	783	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	189						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGCGGGAGACGTCGCGGCCGG	0.587000													18	36					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795678	208795678	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:208795678C>A	ENST00000457206.1	-	5	2285	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A620S|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A620S			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	620					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCGCTGCCCGGCAGCTG	0.617000													28	98					1.17739e-12	1.74225e-12	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20648340	20648340	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:20648340G>C	ENST00000525748.1	+	8	1620	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	449					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGGAGCTGGGATCTGGTACT	0.557000													12	42					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175392	51175392	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:51175392G>A	ENST00000440970.1	-	2	881	c.450C>T	c.(448-450)atC>atT	p.I150I	SALL1_ENST00000251020.4_Silent_p.I247I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247	Poly-Ser.		Missing.|S -> SS.		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542000													20	44					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67514665	67514665	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:67514665C>A	ENST00000522677.3	-	2	524	c.114G>T	c.(112-114)tgG>tgT	p.W38C	MYBL1_ENST00000517885.1_Missense_Mutation_p.W38C|MYBL1_ENST00000524176.2_Missense_Mutation_p.W38C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	38	HTH myb-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CGTCCCTTGTCCATTTTACTC	0.398000													9	16					5.4927e-09	7.43315e-09	1	1	0
AXIN1	8312	broad.mit.edu	37	16	364684	364684	+	Splice_Site	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:364684C>T	ENST00000262320.3	-	3	1250		c.e3-1		AXIN1_ENST00000481769.1_Splice_Site|AXIN1_ENST00000354866.3_Splice_Site	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1						activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGATCCATACCTGCAAACAGG	0.498000													25	12					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532341	84532341	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:84532341G>T	ENST00000527857.1	+	0	2363					NR_026851.1																						GAATTATCAGGGATACAGCCA	0.473000													14	26					7.93312e-07	9.99531e-07	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193185178	193185178	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193185178G>T	ENST00000342695.4	-	10	1363	c.1041C>A	c.(1039-1041)ctC>ctA	p.L347L	ATP13A4_ENST00000295548.3_Silent_p.L347L|ATP13A4_ENST00000392443.3_Silent_p.L347L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	347					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)		TTCCACAGAAGAGGACATGCC	0.502000													24	37					5.35356e-11	7.63646e-11	1	1	0
IFT140	9742	broad.mit.edu	37	16	1633322	1633322	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1633322C>T	ENST00000426508.2	-	12	1788	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	475										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACCTGCACTCCGTATCGCGG	0.577000													16	47					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40558961	40558961	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:40558961A>G	ENST00000333229.2	-	42	7281	c.6954T>C	c.(6952-6954)aaT>aaC	p.N2318N		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTATTGTGCATTTTCTTTCC	0.353000													9	26					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221633	18221633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:18221633G>T	ENST00000380033.4	-	5	1027	c.895C>A	c.(895-897)Cat>Aat	p.H299N	BEND2_ENST00000380030.3_Missense_Mutation_p.H299N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	299										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAATTGGGATGGAAGCAGAAA	0.383000													12	9					0.000978159	0.00108052	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11418802	11418802	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:11418802C>A	ENST00000423059.3	-	26	4947	c.4696G>T	c.(4696-4698)Gac>Tac	p.D1566Y	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1566						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCTTTTGTCCTCCATGGTG	0.507000										HNSCC(18;0.044)			17	32					1.5739e-10	2.225e-10	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478401	14478401	+	RNA	SNP	C	C	A	rs71217363		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:14478401C>A	ENST00000581457.1	-	0	1507					NR_024076.1																						TGGCAGCGGACGTACGGCTCT	0.443000													13	35					1.00905e-13	1.51676e-13	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21447035	21447035	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21447035T>A	ENST00000307378.6	-	12	2001	c.1281A>T	c.(1279-1281)caA>caT	p.Q427H	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Q425H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Q427H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Q295H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Q295H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	427					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATATAAATCTTGTGGAATTC	0.343000													31	9					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109542	21109542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21109542G>T	ENST00000320704.3	-	1	308	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGTAGAAATAGAATTGGGTGA	0.488000													10	40					4.1943e-16	6.44755e-16	1	1	0
USH2A	7399	broad.mit.edu	37	1	216172258	216172258	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:216172258G>T	ENST00000366943.2	-	34	7014	c.6628C>A	c.(6628-6630)Cct>Act	p.P2210T	USH2A_ENST00000307340.3_Missense_Mutation_p.P2210T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2210	Fibronectin type-III 8.				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)		TTATTACCAGGTAAAACGTAT	0.373000										HNSCC(13;0.011)			9	11					1	1	1	1	0
FMO1	2326	broad.mit.edu	37	1	171249998	171249998	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:171249998T>G	ENST00000354841.4	+	5	832	c.701T>G	c.(700-702)gTg>gGg	p.V234G	FMO1_ENST00000402921.2_Missense_Mutation_p.V171G|FMO1_ENST00000367750.3_Missense_Mutation_p.V234G|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	234					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	p.V234A(1)		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)					TGGGACATGGTGTTCATGACA	0.498000													16	33					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60558321	60558321	+	Splice_Site	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:60558321G>A	ENST00000373886.3	+	11	1532		c.e11+1		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)						multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGTGCCACAGGTCAGTATCAT	0.398000													14	39					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31657705	31657705	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:31657705G>T	ENST00000375494.3	+	11	1161	c.1161G>T	c.(1159-1161)gtG>gtT	p.V387V		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	387					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TCATGACTGTGCGTGCCCAGC	0.577000													49	121					7.05377e-20	1.12434e-19	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208224641	208224641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208224641G>A	ENST00000367033.3	-	16	3878	c.3121C>T	c.(3121-3123)Cct>Tct	p.P1041S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1041	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGACCCGAGGGTCATCTATG	0.597000													12	24					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503099	39503099	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:39503099G>T	ENST00000007735.3	-	5	917	c.873C>A	c.(871-873)aaC>aaA	p.N291K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	291	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TACACACCAGGTTGTGCTGGG	0.592000													28	57					4.22769e-11	6.04866e-11	1	1	0
EEF1A1	1915	broad.mit.edu	37	6	74229614	74229614	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:74229614C>T	ENST00000316292.9	-	1	1127	c.136G>A	c.(136-138)Gct>Act	p.A46T	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCTCAGCAGCCTCCTTCTCA	0.418000													9	34					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208746	23208746	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:23208746C>T	ENST00000300061.2	+	6	1218	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	359					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)	AGGAATGCACCTGGTAAGAGA	0.443000													5	29					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976077	131976077	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:131976077C>T	ENST00000356920.5	+	1	196	c.102C>T	c.(100-102)tgC>tgT	p.C34C	POTEE_ENST00000358087.5_Silent_p.C34C|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	34							ATP binding										GCTTCCCCTGCTACAGGGAGA	0.567000													63	131					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444945	103444945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103444945C>G	ENST00000358392.2	-	32	2956	c.2639G>C	c.(2638-2640)gGt>gCt	p.G880A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G752A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G829A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G868A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	868	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)		TACCCGTGCACCTTTCTCTCC	0.373000													5	9					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212373	26212373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:26212373G>T	ENST00000379034.1	+	2	559	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	137	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAAGTCCAAGCACTTCCCAT	0.537000													9	4					3.09899e-07	3.94643e-07	1	1	0
EXOC6	54536	broad.mit.edu	37	10	94715404	94715404	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:94715404C>G	ENST00000371552.4	+	17	1720	c.1691C>G	c.(1690-1692)aCt>aGt	p.T564S	EXOC6_ENST00000443748.2_Missense_Mutation_p.T466S|EXOC6_ENST00000260762.6_Missense_Mutation_p.T569S|EXOC6_ENST00000371547.4_Missense_Mutation_p.T585S	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	569					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GACTTTATAACTAACATTACA	0.303000													7	11					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792899	44792899	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44792899T>A	ENST00000291182.4	-	5	791	c.689A>T	c.(688-690)cAc>cTc	p.H230L	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATCTCTTTTGTGCACTATATT	0.358000													10	23					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100331947	100331947	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:100331947G>T	ENST00000262233.6	+	3	486	c.347G>T	c.(346-348)gGg>gTg	p.G116V	EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Missense_Mutation_p.G116V|EML1_ENST00000327921.9_Missense_Mutation_p.G85V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	116						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)				TCCCCCTCCGGGGTCAGGAAA	0.498000													8	17					3.09899e-07	3.94643e-07	1	1	0
SIM1	6492	broad.mit.edu	37	6	100838643	100838643	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:100838643T>C	ENST00000369208.3	-	12	2677	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	SIM1_ENST00000262901.4_Missense_Mutation_p.H632R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	632	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGCTGGATATGGTCACATGG	0.498000													20	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062836	9062836	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9062836T>C	ENST00000397910.4	-	3	24813	c.24610A>G	c.(24610-24612)Aca>Gca	p.T8204A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8206	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						GGAGGATCTGTTTGTGTCTTG	0.468000													15	24					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	9066205	9066205	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:9066205G>T	ENST00000173229.2	+	3	1201	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	NTN1_ENST00000538852.1_Missense_Mutation_p.G365V|NTN1_ENST00000546090.1_Missense_Mutation_p.G365V	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCAAGAGCGGAGGTGTCTGC	0.632000													15	32					0.00316338	0.00343061	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687211	21687211	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:21687211G>T	ENST00000398485.2	+	2	476	c.422G>T	c.(421-423)cGc>cTc	p.R141L	PAX1_ENST00000444366.2_Missense_Mutation_p.R117L|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	141	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCAGCTCCGCGTATCCCAC	0.677000													24	66					3.08376e-08	4.04637e-08	1	1	0
MUC5AC	4586	broad.mit.edu	37	11	1158115	1158115	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:1158115G>T	ENST00000356191.2	+	14	1086	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGCCTGTGAGGACCACTGTG	0.667000													3	15					0.004672	0.0050322	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363620	22363620	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:22363620T>A	ENST00000397121.2	-	3	1216	c.899A>T	c.(898-900)aAg>aTg	p.K300M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	300					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)				ATGAATTCTCTTATGTTCCAT	0.433000													11	24					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129835634	129835634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:129835634C>A	ENST00000421865.2	+	64	9154	c.9105C>A	c.(9103-9105)caC>caA	p.H3035Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3035	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATCAAACACCGCATTGAGC	0.507000													16	31					3.52763e-06	4.32978e-06	1	1	0
WT1	7490	broad.mit.edu	37	11	32413565	32413565	+	Missense_Mutation	SNP	C	C	A	rs121907903		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:32413565C>A	ENST00000332351.3	-	9	1669	c.1385G>T	c.(1384-1386)cGg>cTg	p.R462L	WT1_ENST00000379079.2_Missense_Mutation_p.R250L|WT1_ENST00000530998.1_Missense_Mutation_p.R233L|WT1_ENST00000448076.3_Missense_Mutation_p.R462L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGGTCGGACCGGGAGAACTT	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				28	75					2.12542e-12	3.10638e-12	1	1	0
ERP27	121506	broad.mit.edu	37	12	15090986	15090986	+	Splice_Site	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:15090986T>C	ENST00000266397.2	-	2	668	c.94_splice	c.e2-1	p.D32_splice		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	32						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ACCAGGACCATCTAGAGAGAG	0.498000													23	94					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516522	195516522	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:195516522C>A	ENST00000463781.3	-	2	2388	c.1929G>T	c.(1927-1929)ccG>ccT	p.P643P	MUC4_ENST00000475231.1_Silent_p.P643P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	648					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)		GTGTGGTCTGCGGGGCTTGAG	0.522000													30	124					6.38683e-12	9.30597e-12	1	1	0
DNER	92737	broad.mit.edu	37	2	230456321	230456321	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230456321A>T	ENST00000341772.4	-	2	694	c.560T>A	c.(559-561)gTa>gAa	p.V187E		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	187					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTCATTTCTACAACTTTCTG	0.468000													12	19					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46680027	46680027	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46680027A>G	ENST00000274793.7	-	6	714	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLA2G7_ENST00000538237.1_Missense_Mutation_p.I128T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.I173T|PLA2G7_ENST00000541026.1_Missense_Mutation_p.I46T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	173					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCAGCAACTATAAACCCATG	0.383000													6	19					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111846896	111846896	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:111846896G>T	ENST00000308910.4	-	3	295	c.111C>A	c.(109-111)caC>caA	p.H37Q	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.H39Q	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		CAGCGATATGGTGATCCCAGC	0.418000													9	19					0.00829132	0.00891035	1	1	0
TLE6	79816	broad.mit.edu	37	19	2991911	2991911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2991911C>T	ENST00000246112.4	+	14	1516	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	TLE6_ENST00000452088.1_Missense_Mutation_p.P316S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	316					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GACTGGGGGTCCGGATGCCTG	0.577000													16	36					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41597587	41597587	+	Silent	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:41597587A>T	ENST00000262415.3	+	19	2961	c.2889A>T	c.(2887-2889)acA>acT	p.T963T	DHX8_ENST00000540306.1_Silent_p.T963T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	963						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCTGTACACACTGGGGGCCC	0.547000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	59					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823884	54823884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:54823884C>T	ENST00000301219.3	-	2	130	c.11G>A	c.(10-12)tGg>tAg	p.W4*	LILRA5_ENST00000446712.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000346508.3_Nonsense_Mutation_p.W4*|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	4					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGATGAGACCATGGTGCCTG	0.587000													7	13					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173878796	173878796	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:173878796C>A	ENST00000367698.3	-	5	1165	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	349					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GCATGTGGACCACCAGCATCA	0.552000													40	64					3.54561e-26	5.80746e-26	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157516733	157516733	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:157516733C>A	ENST00000361835.3	-	3	464	c.307_splice	c.e3+1	p.A103_splice	FCRL5_ENST00000368188.2_Splice_Site_p.E103_splice|FCRL5_ENST00000368189.3_Splice_Site_p.A103_splice|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Splice_Site_p.A103_splice|FCRL5_ENST00000356953.4_Splice_Site_p.A103_splice	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	103						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCTCTCACCTGAAGAAAAA	0.483000													11	29					2.80697e-09	3.82038e-09	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751268	26751268	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751268C>A	ENST00000396641.2	+	2	697	c.105C>A	c.(103-105)ccC>ccA	p.P35P	LRRC3B_ENST00000417744.1_Silent_p.P35P|LRRC3B_ENST00000456208.2_Silent_p.P35P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTATGTGTCCCAAGGGCTGTC	0.443000													17	22					8.60227e-14	1.3013e-13	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118495765	118495765	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:118495765C>G	ENST00000361417.2	+	6	882	c.471C>G	c.(469-471)agC>agG	p.S157R	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S157R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	157										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCCTACAGCCCTGTTCCTG	0.602000													18	46					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945243	96945243	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:96945243C>G	ENST00000389672.5	+	4	1288	c.1250C>G	c.(1249-1251)cCa>cGa	p.P417R	EPHA6_ENST00000470610.2_Missense_Mutation_p.P417R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	322	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P323Q(2)|p.P417Q(1)		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						GAAAAAGACCCACCTTCTATG	0.348000													15	51					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348724	150348724	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:150348724G>T	ENST00000218316.3	+	2	738	c.669G>T	c.(667-669)ggG>ggT	p.G223G		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	223					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)					ACCCTGCAGGGCAGAATCCTG	0.532000													33	22					4.74835e-14	7.20597e-14	1	1	0
EXO5	64789	broad.mit.edu	37	1	40981148	40981148	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:40981148A>T	ENST00000372703.1	+	2	2006	c.932A>T	c.(931-933)aAa>aTa	p.K311I	EXO5_ENST00000296380.4_Missense_Mutation_p.K311I|EXO5_ENST00000358527.2_Missense_Mutation_p.K311I					exonuclease 5									p.K311fs*25(1)									GTAGCCTTCAAAGAGAAGGAG	0.517000													21	30					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189018	26189018	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:26189018C>A	ENST00000340756.2	-	1	286	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	96					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ATAAAGAGTGCGTCCCTGGCG	0.547000													7	40					5.18039e-06	6.29331e-06	1	1	0
TNXB	7148	broad.mit.edu	37	6	32036354	32036354	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:32036354C>A	ENST00000375244.3	-	17	6234	c.6033G>T	c.(6031-6033)gaG>gaT	p.E2011D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2011D			P22105	TENX_HUMAN	tenascin XB	2093	Fibronectin type-III 12.				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						CAAACTGTCCCTCGGGAACTG	0.652000													12	39					0.000978159	0.00108052	1	1	0
PLEK2	26499	broad.mit.edu	37	14	67859513	67859513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67859513C>A	ENST00000216446.4	-	5	675	c.535G>T	c.(535-537)Gag>Tag	p.E179*		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	179	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GTCACCGCCTCCAGACGGCTG	0.642000													8	17					0.000157383	0.00018101	1	1	0
C12orf60	144608	broad.mit.edu	37	12	14975882	14975882	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:14975882T>A	ENST00000330828.2	+	2	217	c.13T>A	c.(13-15)Tca>Aca	p.S5T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	5										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTCTTCAGAGTCAGAAAAGGA	0.353000													31	18					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396190	1396190	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1396190A>G	ENST00000324385.5	+	25	2584	c.2426A>G	c.(2425-2427)aAt>aGt	p.N809S	BAIAP3_ENST00000397488.2_Missense_Mutation_p.N791S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.N774S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.N791S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.N738S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.N746S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.N751S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	809					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCCTCAACAATGTGGAGCTC	0.716000													21	18					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86237392	86237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:86237392A>G	ENST00000224756.8	+	9	2482	c.2297A>G	c.(2296-2298)tAt>tGt	p.Y766C	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y766C|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y193C	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		GCTGATAAATATACCCAAACA	0.338000													4	5					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007754	6007754	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6007754A>T	ENST00000332249.4	-	1	461	c.407T>A	c.(406-408)aTg>aAg	p.M136K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCAGAGCCATGGCCACAAG	0.537000													3	11					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510536	169510536	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169510536C>T	ENST00000367796.3	-	13	4008	c.3807G>A	c.(3805-3807)caG>caA	p.Q1269Q	F5_ENST00000367797.3_Silent_p.Q1264Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1264	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				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)	AAAGGTTTGTCTGACTGAGTT	0.507000													83	138					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844614	147844614	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:147844614G>T	ENST00000361727.3	+	17	3102	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	862	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATTTGATGTGGGAAATGGGC	0.483000										HNSCC(39;0.1)			40	60					5.44703e-19	8.59581e-19	1	1	0
UBXN2A	165324	broad.mit.edu	37	2	24181170	24181170	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:24181170G>T	ENST00000309033.4	+	2	230		c.e2-1		UBXN2A_ENST00000404924.1_Splice_Site|UBXN2A_ENST00000535786.1_Splice_Site|UBXN2A_ENST00000446425.2_Splice_Site	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A											endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TACTTTTACAGTAAGGCGAAA	0.279000													4	13					0.150653	0.153563	1	1	0
ASCL1	429	broad.mit.edu	37	12	103352431	103352431	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:103352431G>T	ENST00000266744.3	+	1	968	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	137	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGTCAACCTGGGCTTTGCCAC	0.667000													13	30					4.3838e-07	5.53805e-07	1	1	0
HAPLN4	404037	broad.mit.edu	37	19	19368833	19368833	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:19368833G>C	ENST00000291481.7	-	5	1065	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	334	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCGCTCGCGGGTTCACGATGG	0.716000													4	9					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619393	1619393	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:1619393C>T	ENST00000412090.1	-	1	131	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	30						keratin filament		p.G30S(1)		large_intestine(1)|lung(2)|skin(1)	4		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)		GAGCCACAGCCCCCACAGCCA	0.672000													56	104					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106414	90106414	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:90106414C>G	ENST00000405460.2	+	74	15433	c.15337C>G	c.(15337-15339)Ctg>Gtg	p.L5113V	GPR98_ENST00000425867.2_Missense_Mutation_p.L774V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5113					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)		GAGCCCACGCCTGAATCTAGA	0.378000													15	46					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449885	85449885	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:85449885C>T	ENST00000393217.2	+	8	1375	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	438										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGATGTTCTCCTTTGGCTAG	0.289000													11	23					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705285	51705285	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:51705285G>C	ENST00000522124.1	+	19	2111	c.1450G>C	c.(1450-1452)Gct>Cct	p.A484P	SNTG1_ENST00000518864.1_Missense_Mutation_p.A484P|SNTG1_ENST00000276467.5_Missense_Mutation_p.A447P|SNTG1_ENST00000517473.1_Missense_Mutation_p.A447P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	484					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCCTTCTTTGCTGCCAAGGT	0.398000													12	44					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708551	126708551	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126708551G>C	ENST00000251772.4	+	1	1115	c.1046G>C	c.(1045-1047)cGc>cCc	p.R349P	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R372P			Q9UIW2	PLXA1_HUMAN	plexin A1	372	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATTAAGGAGCGCATCCAGTCC	0.612000													29	110					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520961	175520961	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:175520961G>A	ENST00000454872.1	+	14	2486	c.2358G>A	c.(2356-2358)gtG>gtA	p.V786V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	786					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GACTTGATGTGTTCAAGAGTG	0.388000													3	12					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483734	15483734	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:15483734C>G	ENST00000269701.2	-	5	849	c.789G>C	c.(787-789)ggG>ggC	p.G263G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	263					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCCGCCCGCCCCCTGCATGC	0.701000													8	15					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176710873	176710873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176710873G>A	ENST00000439151.2	+	20	6140	c.6095G>A	c.(6094-6096)tGg>tAg	p.W2032*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1929*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W1763*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W1763*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2032	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACAGAAGTGGTCTGTGAAT	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	44					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79119927	79119927	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:79119927G>C	ENST00000370747.4	+	3	542		c.e3-1		IFI44_ENST00000545124.1_Splice_Site|IFI44_ENST00000495254.1_Splice_Site	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTTCCCCAGATTCACTGGA	0.303000													7	10					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3337109	3337109	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:3337109G>C	ENST00000248384.1	-	1	26	c.27C>G	c.(25-27)atC>atG	p.I9M		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	9					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.I9I(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GGAAGTCTGAGATGCTGGTTT	0.458000													14	35					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138714555	138714555	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:138714555T>A	ENST00000520602.1	-	5	575	c.290A>T	c.(289-291)cAa>cTa	p.Q97L	MCF2_ENST00000370573.4_Missense_Mutation_p.Q37L|MCF2_ENST00000370576.4_Missense_Mutation_p.Q37L|MCF2_ENST00000536274.1_Missense_Mutation_p.Q37L|MCF2_ENST00000370578.4_Missense_Mutation_p.Q182L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q97L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q37L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q97L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	37					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAACGTTCGTTGAAGAAAGCT	0.348000													12	8					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529454	113529454	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529454C>A	ENST00000297405.5	-	28	4809	c.4564_splice	c.e28-1	p.S1522_splice	CSMD3_ENST00000455883.2_Splice_Site_p.S1418_splice|CSMD3_ENST00000343508.3_Splice_Site_p.S1482_splice|CSMD3_ENST00000352409.3_Splice_Site_p.S1522_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1522	CUB 8.					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						GGCAACAGAACCTATCAAAAG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	14					0.150653	0.153563	1	1	0
TNP2	7142	broad.mit.edu	37	16	11363039	11363039	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:11363039G>C	ENST00000312693.3	-	1	150	c.81C>G	c.(79-81)acC>acG	p.T27T	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GGCAATGGCGGGTGCAGGTGC	0.622000													130	141					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172642049	172642049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172642049C>T	ENST00000351008.3	-	8	1470	c.1287G>A	c.(1285-1287)atG>atA	p.M429I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	429					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCGCTTCCCCATTGTCTCCA	0.333000													7	48					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644541	74644541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:74644541C>A	ENST00000541184.1	-	7	1132	c.655G>T	c.(655-657)Gtg>Ttg	p.V219L	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.V228L|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.L187F	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	228						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AAGAGAATCACAAGGCTGACA	0.363000													6	2					0.0215528	0.0224017	1	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81070805	81070805	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:81070805C>T	ENST00000334512.5	+	24	3532	c.2960C>T	c.(2959-2961)tCc>tTc	p.S987F	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	987	Pro-rich.				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)			CCTCCTCCTTCCCAGCCTCCC	0.647000													45	127					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251319	98251319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:98251319G>T	ENST00000284311.3	+	1	577	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	148						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAAGGACAGACTGTGCATA	0.522000													7	31					2.0095e-06	2.4922e-06	1	1	0
KIT	3815	broad.mit.edu	37	4	55561859	55561859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:55561859C>G	ENST00000288135.5	+	2	346	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	83	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGAATGGATCACGGAAAAGG	0.448000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				11	10					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316149	19316149	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:19316149G>T	ENST00000454498.2	-	5	1652	c.639C>A	c.(637-639)atC>atA	p.I213I	CSGALNACT1_ENST00000544602.1_Silent_p.I213I|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.I213I|CSGALNACT1_ENST00000522854.1_Silent_p.I213I|CSGALNACT1_ENST00000332246.6_Silent_p.I213I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	213					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGTTCGGTAGATCCCTGTTA	0.418000													20	24					7.21436e-19	1.13471e-18	1	1	0
PLEKHA5	54477	broad.mit.edu	37	12	19427863	19427863	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:19427863T>A	ENST00000538714.1	+	10	1245	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.L420*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.L172*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	414							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGCAGCAGTTGGAACAGTGG	0.473000													10	77					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912998	145912998	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:145912998C>A	ENST00000354952.2	-	8	1098	c.858G>T	c.(856-858)atG>atT	p.M286I	PLSCR4_ENST00000433593.2_Missense_Mutation_p.M181I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M286I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M196I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M286I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	286					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAGCATCTGCCATTGCTGATA	0.423000													17	44					3.45872e-05	4.08679e-05	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725274	140725274	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140725274C>T	ENST00000253812.6	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_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)			AGAACGACAACGCGCCCGAGA	0.632000													54	161					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172187160	172187160	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:172187160C>T	ENST00000375258.3	-	7	984	c.769G>A	c.(769-771)Gta>Ata	p.V257I				B3KW44	B3KW44_HUMAN	methyltransferase like 8	257							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TCATCACATACATCATGAACA	0.433000													6	24					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	661643	661643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:661643C>T	ENST00000266383.5	+	13	1232	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	407						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTTCAGCTTTCAGGAGTACAT	0.602000													60	27					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92617225	92617225	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:92617225G>T	ENST00000371721.3	-	1	446	c.204C>A	c.(202-204)tcC>tcA	p.S68S	HTR7_ENST00000277874.6_Silent_p.S68S|HTR7_ENST00000371719.2_Silent_p.S68S|HTR7_ENST00000336152.3_Silent_p.S68S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	68					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCCCACAGCCGGAGGCATTGT	0.687000													16	34					1.5739e-10	2.225e-10	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42489283	42489283	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:42489283G>T	ENST00000545399.1	-	8	972	c.819C>A	c.(817-819)atC>atA	p.I273I	ATP1A3_ENST00000543770.1_Silent_p.I271I|ATP1A3_ENST00000602133.1_Silent_p.I230I|ATP1A3_ENST00000302102.5_Silent_p.I260I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	260					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGTGGCGATACGGCCCA	0.672000													7	23					5.18039e-06	6.29331e-06	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237967	56237967	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56237967T>A	ENST00000312240.2	-	1	47	c.7A>T	c.(7-9)Aat>Tat	p.N3Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGGTGAAATTGAGCATTTTC	0.313000													8	22					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230883368	230883368	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:230883368G>A	ENST00000354537.1	+	1	208	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CAPN9_ENST00000271971.2_Silent_p.L42L|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.L42L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	42	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAGGCACCCTGTTTGAGGATG	0.607000													17	52					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704868	101704868	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:101704868T>C	ENST00000305352.6	+	2	703	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	110					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGCCACCACCTACAAGCTCAC	0.567000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	33					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635998	7635998	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:7635998C>G	ENST00000359156.4	-	12	3255	c.3053G>C	c.(3052-3054)tGt>tCt	p.C1018S	CD163_ENST00000432237.2_Missense_Mutation_p.C1018S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.C1051S|CD163_ENST00000541972.1_Missense_Mutation_p.C1006S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1018	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						CTTGTGCCCACACTCACTATG	0.542000													42	23					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757924	87757924	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:87757924G>C	ENST00000398204.4	+	9	1009	c.686G>C	c.(685-687)cGa>cCa	p.R229P	ADAM22_ENST00000265727.7_Missense_Mutation_p.R229P|ADAM22_ENST00000398209.3_Missense_Mutation_p.R229P|ADAM22_ENST00000398201.4_Missense_Mutation_p.R229P|ADAM22_ENST00000315984.7_Missense_Mutation_p.R229P|ADAM22_ENST00000439864.1_Missense_Mutation_p.R229P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	229					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCTTCGTCGATATCCTCGT	0.368000													6	13					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380797	28380797	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28380797C>T	ENST00000394835.3	+	10	2017	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609C|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609C|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609C|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266C|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553C	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding	p.R609C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACAAGGGTCACGCAGAGAGTC	0.488000													27	58					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599468	136599468	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:136599468T>A	ENST00000531224.1	-	4	803	c.551A>T	c.(550-552)cAg>cTg	p.Q184L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q184L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q182L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q182L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q182L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q184L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	184					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGGTTCCTCCTGTGATTTACT	0.423000													37	110					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119026256	119026256	+	Silent	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119026256T>C	ENST00000296499.5	+	3	1468	c.1065T>C	c.(1063-1065)caT>caC	p.H355H	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	355	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AATTTTACCATACAGGTAAGA	0.368000													19	22					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552560	152552560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152552560C>A	ENST00000367255.5	-	114	21606	c.21005G>T	c.(21004-21006)aGt>aTt	p.S7002I	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1526I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6931I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7002I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6614I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6931I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7002					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)		AATTTGCCAACTTTTATTCAT	0.438000										HNSCC(10;0.0054)			14	30					6.31663e-08	8.24285e-08	1	1	0
TEKT4	150483	broad.mit.edu	37	2	95537376	95537376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:95537376G>A	ENST00000295201.4	+	1	189	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	TEKT4_ENST00000427593.2_Missense_Mutation_p.A18T|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	18					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTACGACGTGGCCCGTAACAC	0.662000													13	32					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65422830	65422830	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:65422830C>A	ENST00000330909.8	-	10	1362	c.1363_splice	c.e10+1	p.G455_splice	MAGI1_ENST00000497477.2_Splice_Site_p.G455_splice|MAGI1_ENST00000483466.1_Splice_Site_p.G455_splice|MAGI1_ENST00000402939.2_Splice_Site_p.G455_splice|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	455					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)		AGTACTTTACCCTGAAGTGGA	0.398000													14	18					1.52009e-12	2.23543e-12	1	1	0
ZNF215	7762	broad.mit.edu	37	11	6977139	6977139	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6977139G>T	ENST00000278319.5	+	7	1519	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	ZNF215_ENST00000414517.2_Missense_Mutation_p.D311Y|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	311					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)		GAAAAGCTTTGATATTAATTC	0.323000													12	24					1.08611e-07	1.40957e-07	1	1	0
SOGA1	140710	broad.mit.edu	37	20	35444529	35444529	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:35444529G>A	ENST00000237536.4	-	5	1657	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	SOGA1_ENST00000456801.2_Missense_Mutation_p.P42L|SOGA1_ENST00000357779.3_Missense_Mutation_p.P201L|SOGA1_ENST00000279034.5_Missense_Mutation_p.P201L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	201										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCGAGTGGGGGGCATCGGC	0.642000													19	32					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117885064	117885064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:117885064C>A	ENST00000439649.3	-	5	790	c.423G>T	c.(421-423)gaG>gaT	p.E141D	GFRA1_ENST00000544592.1_Missense_Mutation_p.E25D|GFRA1_ENST00000369236.1_Missense_Mutation_p.E141D|GFRA1_ENST00000355422.6_Missense_Mutation_p.E146D	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	146					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGAATGTGCTCCACTGCAA	0.512000													6	6					3.59834e-05	4.23072e-05	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539100	56539100	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56539100C>T	ENST00000390649.3	+	7	1501	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	501	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCACAGGCCTGCACGCCGC	0.632000													18	22					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49842419	49842419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:49842419G>T	ENST00000340652.3	+	3	1365	c.809G>T	c.(808-810)tGt>tTt	p.C270F		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	270	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GATCAGTGCTGTCCCATCTGC	0.577000													13	38					0.000151284	0.000175269	1	1	0
FRYL	285527	broad.mit.edu	37	4	48584666	48584666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:48584666C>A	ENST00000358350.4	-	20	2438	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	FRYL_ENST00000503238.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000506685.1_Nonsense_Mutation_p.E318*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E612*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAACATCCTCCCGCCAATCT	0.398000													10	15					0.000442599	0.00049467	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653190	159653190	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:159653190G>T	ENST00000297267.9	+	11	1846	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	FNDC1_ENST00000340366.6_Missense_Mutation_p.R486L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	549						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)		CTGGGTTCCCGGGAGGACTCG	0.627000													6	11					3.59834e-05	4.23072e-05	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2428299	2428299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:2428299G>T	ENST00000449969.1	+	15	2046	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Nonsense_Mutation_p.E656*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E656*|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E656*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	656	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTCCTTCAGCGAGACCAAGGC	0.657000													34	78					1.61788e-16	2.50323e-16	1	1	0
LIPC	3990	broad.mit.edu	37	15	58855824	58855824	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:58855824G>T	ENST00000414170.3	+	9	1577	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	LIPC_ENST00000299022.5_Missense_Mutation_p.W430C|LIPC_ENST00000356113.6_Missense_Mutation_p.W430C|LIPC_ENST00000433326.2_Missense_Mutation_p.W369C			P11150	LIPC_HUMAN	lipase, hepatic	430	PLAT.				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)		CCAATGTCTGGGACACGGTCC	0.517000													17	29					1.5739e-10	2.225e-10	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110499017	110499017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499017G>A	ENST00000378402.5	+	59	9951	c.9847G>A	c.(9847-9849)Ggc>Agc	p.G3283S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					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)			CGTACTGGTTGGCTCATTCAC	0.383000										HNSCC(38;0.096)			19	47					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754224	140754224	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140754224C>A	ENST00000517434.1	+	1	574	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGTACCCGGAGCTGGT	0.582000													6	10					0.0215528	0.0224017	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29997052	29997052	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:29997052A>G	ENST00000308893.4	+	15	2905	c.1862A>G	c.(1861-1863)cAg>cGg	p.Q621R	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q621R|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q621R|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q448R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	621					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCAGCTCCAGCAGTGCCAG	0.657000													9	32					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719877	145719877	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:145719877A>G	ENST00000230732.4	+	2	976	c.887A>G	c.(886-888)cAg>cGg	p.Q296R	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	296					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGCTATCCAGCCACGTCCT	0.552000													13	35					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370518	129370518	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:129370518T>C	ENST00000393238.3	-	6	2108	c.1768A>G	c.(1768-1770)Atc>Gtc	p.I590V	TMCC1_ENST00000432054.2_Missense_Mutation_p.I266V|TMCC1_ENST00000426664.2_Missense_Mutation_p.I476V|TMCC1_ENST00000329333.5_Missense_Mutation_p.I411V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	590						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATGTTGATGAGTTTGCCC	0.567000													25	68					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802364	67802364	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:67802364G>T	ENST00000544246.1	-	2	900	c.209C>A	c.(208-210)gCt>gAt	p.A70D	PCDH9_ENST00000377865.2_Missense_Mutation_p.A70D|PCDH9_ENST00000377861.3_Missense_Mutation_p.A70D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A70D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A70D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGCATCCCCAGCTTTAGAAAC	0.478000													13	11					0.0202918	0.0212304	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19575568	19575568	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:19575568G>T	ENST00000328405.2	+	16	3567	c.3301G>T	c.(3301-3303)Gat>Tat	p.D1101Y		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1101						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAAGTGAAAGATAACAAAGC	0.428000													7	10					0.000274275	0.000309455	1	1	0
BAI3	577	broad.mit.edu	37	6	69943213	69943213	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:69943213G>C	ENST00000370598.1	+	18	3333	c.2512G>C	c.(2512-2514)Gga>Cga	p.G838R	BAI3_ENST00000238918.8_Missense_Mutation_p.G44R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	838	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCCACCCAGGGATGTAAAAC	0.478000													31	68					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	47011869	47011869	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:47011869C>T	ENST00000409879.2	-	0	456							Q9H714	CM018_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TACCACTACACGCATCTTCAC	0.453000													3	1					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900192	202900192	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:202900192C>G	ENST00000286201.1	+	1	883	c.822C>G	c.(820-822)acC>acG	p.T274T		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	274					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCGTTCTCACCTACCTGGTGG	0.642000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	151					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020120	55020120	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:55020120C>T	ENST00000324000.3	+	1	2077	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	15					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGTGCTGGGGCTGGTCATGCT	0.597000													22	20					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563740	127563740	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:127563740G>T	ENST00000373580.3	+	5	717	c.717G>T	c.(715-717)gtG>gtT	p.V239V	OLFML2A_ENST00000288815.5_Silent_p.V25V	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	239										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATGGCAGTGTGCAGAAAAGCT	0.517000													43	29					2.00842e-17	3.12787e-17	1	1	0
SYT15	83849	broad.mit.edu	37	10	46967545	46967545	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:46967545A>G	ENST00000374323.3	-	3	1278	c.691T>C	c.(691-693)Tcg>Ccg	p.S231P	SYT15_ENST00000503753.1_Missense_Mutation_p.S178P|SYT15_ENST00000374321.4_Missense_Mutation_p.S178P|SYT15_ENST00000374325.3_Missense_Mutation_p.S178P			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	178	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CAGGTCTCCGAGGGGGCTTGC	0.627000													12	41					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321744	52321744	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:52321744A>T	ENST00000356297.4	-	17	2540	c.2440T>A	c.(2440-2442)Ttg>Atg	p.L814M	PXDNL_ENST00000543296.1_Missense_Mutation_p.L814M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	814					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)				GTGTGGTCCAAGTCGTGCTCT	0.667000													9	26					0	0	1	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144713	106144713	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:106144713T>A	ENST00000276173.4	-	3	316	c.287A>T	c.(286-288)cAc>cTc	p.H96L	CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	96	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						CCTGACAGGGTGATGGAACTT	0.502000													20	13					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44433317	44433317	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:44433317G>C	ENST00000372343.3	+	20	3517	c.2855G>C	c.(2854-2856)cGg>cCg	p.R952P	IPO13_ENST00000372339.3_Missense_Mutation_p.R170P	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	952					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCTGTGCCGGGGTCTCCAT	0.557000													5	22					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487835	24487835	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24487835C>A	ENST00000264463.4	-	12	2811	c.2304G>T	c.(2302-2304)tgG>tgT	p.W768C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACCGAGGGCCCCATTCTCGGA	0.408000										HNSCC(23;0.051)			33	63					2.2171e-23	3.59428e-23	1	1	0
GLI1	2735	broad.mit.edu	37	12	57865745	57865745	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:57865745C>A	ENST00000228682.2	+	12	3313	c.3222C>A	c.(3220-3222)acC>acA	p.T1074T	GLI1_ENST00000546141.1_Silent_p.T1033T|GLI1_ENST00000543426.1_Silent_p.T946T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1074					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGGACATACCCCACCTCCCT	0.552000													14	56					9.16793e-09	1.22325e-08	1	1	0
C4orf26	152816	broad.mit.edu	37	4	76489591	76489591	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:76489591C>A	ENST00000311623.4	+	2	370	c.335C>A	c.(334-336)aCt>aAt	p.T112N	C4orf26_ENST00000435974.2_Missense_Mutation_p.L127I	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	112						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGTTACCTTACTTATAGGTAT	0.443000													36	37					7.63091e-17	1.18454e-16	1	1	0
NOC2L	26155	broad.mit.edu	37	1	887493	887493	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:887493C>G	ENST00000327044.6	-	11	1267	c.1218G>C	c.(1216-1218)tgG>tgC	p.W406C		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	406						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)		GCACATACTGCCAGTTGTACA	0.607000													18	28					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879711	75879711	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:75879711G>C	ENST00000393909.2	+	4	428	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	MRPL19_ENST00000358788.6_Missense_Mutation_p.G135R|MRPL19_ENST00000409374.1_Missense_Mutation_p.G135R	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	135					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						CCAGTTTCTGGGGATTTGCAT	0.378000													16	40					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152545658	152545658	+	Missense_Mutation	SNP	C	C	T	rs150723622		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152545658C>T	ENST00000367255.5	-	117	22094	c.21493G>A	c.(21493-21495)Gct>Act	p.A7165T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A1689T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7094T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7165T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6777T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7094T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7165					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)		ACTTGCACAGCTTCTAAGGAG	0.398000										HNSCC(10;0.0054)			11	21					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217856	130217856	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:130217856A>G	ENST00000276211.5	+	4	813	c.468A>G	c.(466-468)cgA>cgG	p.R156R	ARHGAP36_ENST00000370921.1_Silent_p.R20R|ARHGAP36_ENST00000370922.1_Silent_p.R144R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				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						ACGTGGTGCGAAGGGTGTTTG	0.622000													49	16					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454223	121454223	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:121454223C>G	ENST00000288757.3	-	1	77	c.55G>C	c.(55-57)Gat>Cat	p.D19H	C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.D19H|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.D19H	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	19										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTCCGCATCGCTACTGCTG	0.622000													27	34					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530079	140530079	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140530079C>A	ENST00000543635.1	+	0	192				PCDHB6_ENST00000231136.1_Missense_Mutation_p.H81N			Q9Y5E3	PCDB6_HUMAN							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)			TCCACAGACCCATGATTTACT	0.532000													30	46					5.60225e-13	8.34191e-13	1	1	0
CHML	1122	broad.mit.edu	37	1	241797420	241797420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:241797420C>T	ENST00000366553.1	-	1	1812	c.1649G>A	c.(1648-1650)tGg>tAg	p.W550*	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	550					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATAAAGAGCCCACAAGAGTCT	0.418000													9	20					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66535349	66535349	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:66535349C>A	ENST00000273854.3	-	1	712	c.112G>T	c.(112-114)Gct>Tct	p.A38S	EPHA5_ENST00000432638.2_Missense_Mutation_p.A38S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A38S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A38S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	38					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGAGGGGAGCCCGTCGAGGT	0.751000										TSP Lung(17;0.13)			7	13					5.18039e-06	6.29331e-06	1	1	0
TFAP2B	7021	broad.mit.edu	37	6	50810895	50810895	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:50810895C>G	ENST00000263046.4	+	8	1366	c.1200C>G	c.(1198-1200)atC>atG	p.I400M	TFAP2B_ENST00000393655.3_Missense_Mutation_p.I391M			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	391				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGGGGATCCAGAGCTGCC	0.632000													55	93					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451444	47451444	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:47451444G>T	ENST00000265562.4	+	20	2233	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677000													4	7					0.00024832	0.000282859	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48626772	48626772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:48626772G>A	ENST00000435803.1	+	57	14552	c.14528G>A	c.(14527-14529)cGc>cAc	p.R4843H	ABCA13_ENST00000544596.1_Missense_Mutation_p.R573H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4843	ABC transporter 2.				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						CTCATCAGGCGCTTACACCTC	0.587000													7	8					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44453474	44453474	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:44453474C>A	ENST00000372557.1	-	3	166		c.e3-1		TNNC2_ENST00000372555.3_Splice_Site			P02585	TNNC2_HUMAN	troponin C type 2 (fast)						muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				GCTGGTCCGTCTGCAGGAGAC	0.612000													34	75					2.2871e-25	3.73323e-25	1	1	0
EXD1	161829	broad.mit.edu	37	15	41488237	41488237	+	Splice_Site	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:41488237T>A	ENST00000314992.5	-	6	551		c.e6-2		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1						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						TGTGGCCACCTACAATAGACC	0.383000													5	13					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572298	169572298	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169572298C>A	ENST00000263686.6	-	10	1708	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SELP_ENST00000367794.2_Silent_p.S495S|SELP_ENST00000367788.2_Silent_p.S495S|SELP_ENST00000367793.2_Silent_p.S495S|SELP_ENST00000367786.2_Silent_p.S495S|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Silent_p.S433S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	557	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCCAGCGTCCCGATCGAGTAC	0.448000													13	38					2.61681e-11	3.75525e-11	1	1	0
OR6C70	390327	broad.mit.edu	37	12	55863745	55863745	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55863745A>G	ENST00000327335.4	-	1	177	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTACGGAGGAAGAAATACATT	0.393000													5	12					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215980	20215980	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:20215980C>A	ENST00000331723.1	+	1	394	c.394C>A	c.(394-396)Cgc>Agc	p.R132S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAACCCTTTGCGCTACCTTAC	0.493000													18	29					8.10497e-08	1.05476e-07	1	1	0
CSTF3	1479	broad.mit.edu	37	11	33106683	33106683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:33106683G>A	ENST00000323959.4	-	21	2243	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	TCP11L1_ENST00000324357.9_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	702					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGAACAGGGGGGACAACGGCT	0.517000													12	32					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615466	55615466	+	Missense_Mutation	SNP	C	C	A	rs138358769		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55615466C>A	ENST00000326258.1	+	1	658	c.658C>A	c.(658-660)Cgc>Agc	p.R220S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220C(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTCCTACACCCGCATTATCAT	0.458000													14	21					4.36969e-10	6.14084e-10	1	1	0
PREX1	57580	broad.mit.edu	37	20	47273679	47273679	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:47273679G>C	ENST00000396220.1	-	18	2044	c.2022C>G	c.(2020-2022)gaC>gaG	p.D674E	PREX1_ENST00000371941.3_Missense_Mutation_p.D674E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	674	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAACACCAGGTCCTCATTGA	0.612000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127771048	127771048	+	Splice_Site	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:127771048T>C	ENST00000556132.1	-	10	4528		c.e10-2		SOGA3_ENST00000481848.2_Splice_Site|KIAA0408_ENST00000483725.3_Splice_Site	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3							integral to membrane											TTCAAGAGCCTTTACACATAT	0.408000													13	21					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604783	237604783	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:237604783G>C	ENST00000366574.2	+	13	1487	c.1170_splice	c.e13+1	p.K390_splice	RYR2_ENST00000360064.6_Splice_Site_p.K388_splice|RYR2_ENST00000542537.1_Splice_Site_p.K374_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	390	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAACGTAAGGTAAGGTGAT	0.353000													8	20					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53308168	53308168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:53308168G>C	ENST00000566029.1	+	24	5130	c.4921G>C	c.(4921-4923)Gtt>Ctt	p.V1641L	CHD9_ENST00000398510.3_Missense_Mutation_p.V1641L|CHD9_ENST00000564845.1_Missense_Mutation_p.V1641L|CHD9_ENST00000447540.1_Missense_Mutation_p.V1641L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1641					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAGCAAGAAGTTATTGGAAA	0.323000													2	1					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643574	91643574	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:91643574A>T	ENST00000359028.2	+	11	3805	c.3580A>T	c.(3580-3582)Aag>Tag	p.K1194*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1194*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1182*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1194					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATGAAGGAAAGCCTTTACA	0.313000			T	BRAF	papillary thyroid								9	9					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132570	59132570	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:59132570A>G	ENST00000313940.2	+	1	686	c.639A>G	c.(637-639)ctA>ctG	p.L213L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAAGTGCCCTAGTTATCATGA	0.423000													23	40					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110765816	110765816	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:110765816C>T	ENST00000369787.3	+	2	936	c.909C>T	c.(907-909)tgC>tgT	p.C303C	KCNC4_ENST00000413138.3_Silent_p.C303C|KCNC4_ENST00000438661.2_Silent_p.C303C|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	303					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCGTGTGCTGCCCCGACACGC	0.592000													34	57					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													4	50					0	0	1	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959555	61959555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:61959555G>A	ENST00000306238.3	+	2	152	c.83G>A	c.(82-84)gGt>gAt	p.G28D		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	28						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CAAGCTCTTGGTTCTGAAATC	0.428000													10	19					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230914587	230914587	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230914587C>T	ENST00000295190.4	-	3	751	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	98						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGCGGCACCCACAGGTGTT	0.468000													16	28					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379197	78379197	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:78379197G>C	ENST00000255192.3	+	6	847	c.781_splice	c.e6+1	p.G261_splice	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Splice_Site_p.G197_splice	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	261	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ATATCCCTTTGGTAAGCTCAG	0.488000													9	17					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6956694	6956694	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:6956694G>T	ENST00000389658.3	-	56	8128	c.8035C>A	c.(8035-8037)Cct>Act	p.P2679T	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2679					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)	GCCAGCTTAGGCCTTTCTGAC	0.522000													209	35					2.05961e-90	3.42068e-90	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61007384	61007384	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:61007384T>C	ENST00000373867.3	-	15	1961	c.1496A>G	c.(1495-1497)aAa>aGa	p.K499R	PHYHIPL_ENST00000373880.4_3'UTR|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.K583R|FAM13C_ENST00000277705.6_Missense_Mutation_p.K603R|FAM13C_ENST00000419214.2_Missense_Mutation_p.K485R|FAM13C_ENST00000468840.2_Missense_Mutation_p.K500R|FAM13C_ENST00000442566.3_Missense_Mutation_p.K604R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	583										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						TCAAATAGTTTTGGCCACATC	0.363000													23	47					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73958220	73958220	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:73958220A>T	ENST00000276602.6	+	9	1131	c.1108A>T	c.(1108-1110)Aat>Tat	p.N370Y	TERF1_ENST00000276603.5_Missense_Mutation_p.N390Y	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	390	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGAAGACAAGAATTTGAGATC	0.333000													15	14					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404788	45404788	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:45404788A>T	ENST00000389039.6	-	4	674	c.289T>A	c.(289-291)Tcg>Acg	p.S97T	DUOX2_ENST00000603300.1_Missense_Mutation_p.S97T			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	97	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTGGAGCGACGGCAGGCCG	0.677000													34	61					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27027531	27027531	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:27027531G>T	ENST00000314616.6	+	35	5089		c.e35+1		SUPT6H_ENST00000347486.4_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGCTTACCACGTATGTGGCTT	0.637000													26	39					7.16444e-05	8.34095e-05	1	1	0
CTCFL	140690	broad.mit.edu	37	20	56094387	56094387	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56094387A>G	ENST00000426658.2	-	3	1462	c.801T>C	c.(799-801)tcT>tcC	p.S267S	CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Silent_p.S267S|CTCFL_ENST00000502686.2_Silent_p.S5S|CTCFL_ENST00000429804.2_Silent_p.S267S|CTCFL_ENST00000422869.2_Silent_p.S267S|CTCFL_ENST00000423479.2_Silent_p.S267S|CTCFL_ENST00000433949.2_Silent_p.S267S|CTCFL_ENST00000243914.3_Silent_p.S267S|CTCFL_ENST00000539382.1_Silent_p.S62S|CTCFL_ENST00000422109.2_Silent_p.S267S|CTCFL_ENST00000432255.2_Silent_p.S267S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	267					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGACATTCTAGAAGAGGTGA	0.418000													25	56					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225342967	225342967	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:225342967G>A	ENST00000264414.4	-	15	2463	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	CUL3_ENST00000344951.4_Missense_Mutation_p.R643W|CUL3_ENST00000409096.1_Missense_Mutation_p.R685W|CUL3_ENST00000409777.1_Missense_Mutation_p.R685W	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	709					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCATTATCCGCACTATAGCA	0.408000													17	15					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473364	19473364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19473364C>A	ENST00000507958.1	-	15	3334	c.2344G>T	c.(2344-2346)Gga>Tga	p.G782*	CDH18_ENST00000274170.4_Nonsense_Mutation_p.G782*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.G782*|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	782					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTATTTCTCCATAGAGTTCA	0.438000													11	32					3.86212e-05	4.51849e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)		TTCCTCTGTGCGCCGGTCTCT	0.562000		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)			13	26					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68152517	68152517	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:68152517C>A	ENST00000262215.3	-	20	3248	c.2859G>T	c.(2857-2859)tgG>tgT	p.W953C	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.W407C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	953					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAAAGGCGTCCAAGCCAACT	0.323000													7	36					0.000274275	0.000309455	1	1	0
BAZ2A	11176	broad.mit.edu	37	12	56995031	56995031	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:56995031G>T	ENST00000179765.5	-	22	4336	c.4137C>A	c.(4135-4137)ccC>ccA	p.P1379P	BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Silent_p.P1409P|BAZ2A_ENST00000379441.3_Silent_p.P1381P|BAZ2A_ENST00000551812.1_Silent_p.P1411P			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1411	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGAACTTACTGGGAGGTCTCC	0.597000													10	33					0.000673444	0.000749147	1	1	0
SLC15A4	121260	broad.mit.edu	37	12	129294521	129294521	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:129294521C>A	ENST00000266771.5	-	3	1017	c.978G>T	c.(976-978)ttG>ttT	p.L326F	SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	326					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTATCAAAGCCAAGAAAACAG	0.393000													6	27					0.0215528	0.0224017	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382568	22382568	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:22382568A>C	ENST00000328795.4	+	1	187	c.96A>C	c.(94-96)ttA>ttC	p.L32F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCTGATCTTAATTTTCTACC	0.408000													34	117					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200539118	200539118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:200539118C>T	ENST00000367350.4	-	23	4020	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTGTTCTTCATCAAACTCC	0.289000													4	15					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61846284	61846284	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:61846284G>C	ENST00000325324.6	+	25	2510	c.2341G>C	c.(2341-2343)Ggg>Cgg	p.G781R	IPO11_ENST00000409296.3_Missense_Mutation_p.G821R	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	781						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TATTATAGAAGGGGAGGTAAG	0.348000													7	13					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831443	55831443	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:55831443C>A	ENST00000326652.4	-	6	470	c.288G>T	c.(286-288)ctG>ctT	p.L96L	TMEM150B_ENST00000438693.1_Silent_p.L96L			A6NC51	T150B_HUMAN	transmembrane protein 150B	96						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CCAGGGCACACAGAAGACCCG	0.627000													29	50					3.65163e-15	5.57725e-15	1	1	0
TFDP3	51270	broad.mit.edu	37	X	132351159	132351159	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:132351159C>A	ENST00000310125.4	-	1	1217	c.1129G>T	c.(1129-1131)Ggc>Tgc	p.G377C		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	377						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ACCCTGGAGCCACTGTACTGA	0.577000													31	25					1.74807e-11	2.51616e-11	1	1	0
LOC101243545	101243545	broad.mit.edu	37	3	161146942	161146942	+	RNA	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:161146942A>T	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGTTGGCAACATCCAAAGCAT	0.388000													39	31					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276413	18276413	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:18276413G>T	ENST00000377369.2	+	7	1375	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G234C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G368C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G368C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	368					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						CTTAGAATACGGCTACAGCAC	0.522000													14	30					1.05317e-09	1.45002e-09	1	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524174	73524174	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73524174G>C	ENST00000339534.2	+	1	150	c.73G>C	c.(73-75)Gga>Cga	p.G25R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	25							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGAGGAGCTGGAGGGCGAAG	0.557000													4	4					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049600	109049600	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:109049600C>T	ENST00000335658.6	-	5	504	c.450G>A	c.(448-450)aaG>aaA	p.K150K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	150						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTTTCCACCTTTAATTTTT	0.428000													8	40					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098892	11098892	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:11098892G>T	ENST00000470054.1	-	0	33									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctctaagccgggaacagagca	0.597000													4	17					0.00024832	0.000282859	1	1	0
C6orf58	352999	broad.mit.edu	37	6	127911383	127911383	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:127911383G>T	ENST00000329722.7	+	5	838	c.826G>T	c.(826-828)Gta>Tta	p.V276L		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	276						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TAATACTGATGTAGCCCCTTT	0.393000													24	55					2.24059e-21	3.62001e-21	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730750	140730750	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140730750C>A	ENST00000523390.1	+	1	923	c.923C>A	c.(922-924)aCa>aAa	p.T308K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_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)			TTTGAAGAGACAAGTAGATAT	0.423000													16	41					2.32078e-09	3.16774e-09	1	1	0
GRIP1	23426	broad.mit.edu	37	12	66773099	66773099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:66773099C>A	ENST00000359742.4	-	20	2822	c.2582G>T	c.(2581-2583)gGg>gTg	p.G861V	GRIP1_ENST00000286445.7_Missense_Mutation_p.G861V|GRIP1_ENST00000398016.3_Missense_Mutation_p.G809V			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	861					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATAACTCAGCCCCACATCTGG	0.507000													46	81					3.54909e-21	5.71464e-21	1	1	0
SLC12A2	6558	broad.mit.edu	37	5	127488461	127488461	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:127488461G>T	ENST00000262461.2	+	15	2516	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTCAATTCGTCTTTCTGGA	0.413000													13	17					7.03913e-09	9.47191e-09	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90534066	90534066	+	RNA	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:90534066T>A	ENST00000602681.1	+	0	812																											CAGAGCTCCCTGAGCAAGACA	0.557000													5	10					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333617	220333617	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333617G>T	ENST00000312358.7	+	12	3470	c.3338G>T	c.(3337-3339)cGg>cTg	p.R1113L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				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)		TTGCGGCTGCGGCAGGACGGG	0.647000													10	26					0.0581538	0.0597901	1	1	0
TBCK	93627	broad.mit.edu	37	4	107157660	107157660	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:107157660G>A	ENST00000273980.4	-	15	1684	c.1237C>T	c.(1237-1239)Cat>Tat	p.H413Y	TBCK_ENST00000394708.2_Missense_Mutation_p.H413Y|TBCK_ENST00000361687.4_Missense_Mutation_p.H350Y|TBCK_ENST00000394706.3_Missense_Mutation_p.H374Y|TBCK_ENST00000432496.2_Missense_Mutation_p.H413Y			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	413						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTTGAATGAGGTAAATTA	0.338000													5	4					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530616	84530616	+	RNA	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:84530616G>A	ENST00000527857.1	+	0	638					NR_026851.1																						CCCCTGACCTGATCACCACCT	0.532000													25	64					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169135205	169135205	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:169135205C>A	ENST00000520908.1	+	0	160				DOCK2_ENST00000256935.8_Silent_p.P472P|DOCK2_ENST00000540750.1_De_novo_Start_OutOfFrame			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						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)			GGGACAAGCCCATGAATGAGT	0.423000													6	10					0.00198382	0.00217123	1	1	0
ANO5	203859	broad.mit.edu	37	11	22277028	22277028	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:22277028A>G	ENST00000324559.8	+	13	1609	c.1292A>G	c.(1291-1293)gAa>gGa	p.E431G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	431						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGAATTTGAAGCTATGTGT	0.433000													18	42					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089034	86089034	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:86089034C>T	ENST00000330753.4	+	2	1943	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	FLRT2_ENST00000554746.1_Silent_p.S392S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	392					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAAACCCTAGCAGAAGCTACA	0.577000													27	54					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106475	168106475	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:168106475T>A	ENST00000409195.1	+	9	8662	c.8573T>A	c.(8572-8574)aTc>aAc	p.I2858N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2636N|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2858N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2683					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAAGGTTATCGATGCACAT	0.368000													17	34					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664376	151664376	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:151664376A>G	ENST00000392800.2	+	2	299	c.45A>G	c.(43-45)acA>acG	p.T15T	GALNTL5_ENST00000431418.2_Silent_p.T15T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	15						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGTCCTTGACATTTGGGATCT	0.393000													5	14					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:123166426G>A	ENST00000462833.1	-	1	2179	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					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)		GAGGCGCTGCGTGGCTGCGGC	0.687000													9	35					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870338	12870338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:12870338G>T	ENST00000524591.2	+	4	789	c.300G>T	c.(298-300)gaG>gaT	p.E100D	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	100							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTAGGGATGAGGGCTTCGATG	0.507000													8	11					0.00307968	0.00334748	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767880	31767880	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:31767880C>A	ENST00000240587.4	-	2	3146	c.2819G>T	c.(2818-2820)gGg>gTg	p.G940V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572000													11	17					9.70103e-10	1.34736e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141777553	141777553	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:141777553C>G	ENST00000389484.3	-	12	2879	c.1908G>C	c.(1906-1908)cgG>cgC	p.R636R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	636					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)		AAAGAGTCTTCCGACTCTGAG	0.408000										TSP Lung(27;0.18)			19	35					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445713	27445713	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:27445713C>A	ENST00000337929.3	+	3	568	c.95C>A	c.(94-96)aCg>aAg	p.T32K	IL21R_ENST00000395754.4_Missense_Mutation_p.T32K|IL21R_ENST00000395755.1_Missense_Mutation_p.T32K|IL21R_ENST00000564089.1_Missense_Mutation_p.T32K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACCTCCAGACGGTCATCTGC	0.632000			T	BCL6	NHL								21	17					1.22574e-08	1.63088e-08	1	1	0
TRAV22	28661	broad.mit.edu	37	14	22538980	22538980	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:22538980G>T	ENST00000390450.3	+	0	161																											AGCTCTGCTGGGGCTCTTGAG	0.512000													3	7					0.004672	0.0050322	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156590334	156590334	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:156590334C>A	ENST00000302938.4	-	2	1037	c.942G>T	c.(940-942)gcG>gcT	p.A314A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	314	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGCTGCTCCCGCCAGCGCTG	0.527000													22	71					1.10513e-12	1.64043e-12	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87964708	87964708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:87964708G>T	ENST00000369577.3	+	8	1404	c.1361G>T	c.(1360-1362)cGa>cTa	p.R454L	ZNF292_ENST00000339907.4_Missense_Mutation_p.R449L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTGAAACGACAATGTCTT	0.368000													7	11					0.00198382	0.00217123	1	1	0
IRX5	10265	broad.mit.edu	37	16	54965318	54965318	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:54965318G>C	ENST00000394636.4	+	1	545	c.208G>C	c.(208-210)Gac>Cac	p.D70H	IRX5_ENST00000320990.5_Missense_Mutation_p.D70H|IRX5_ENST00000560154.1_Missense_Mutation_p.D70H			P78411	IRX5_HUMAN	iroquois homeobox 5	70				YGADPAAAAAAAFSSYV -> MAVETTVHTHLSASPPQ (in Ref. 2; AAB50002).	response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GTACGGcgccgaccccgcggc	0.756000													10	14					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5427940	5427940	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:5427940G>A	ENST00000399537.4	-	5	1863	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	TNRC18_ENST00000430969.1_Silent_p.G505G			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	505	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TATGCTCAGGGCCGGTGGGCG	0.736000													14	30					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906977	10906977	+	Silent	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:10906977T>A	ENST00000298232.7	-	23	1897	c.1530A>T	c.(1528-1530)ccA>ccT	p.P510P	TPTE_ENST00000361285.4_Silent_p.P528P|TPTE_ENST00000342420.5_Silent_p.P490P|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATCTGATGGATAAATTC	0.358000													4	25					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065896	23065896	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:23065896G>T	ENST00000246006.4	-	1	1081	c.934C>A	c.(934-936)Cgt>Agt	p.R312S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	312	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCCCCCACGACATGGGCTG	0.647000													22	53					1.87028e-06	2.32561e-06	1	1	0
DAPK1	1612	broad.mit.edu	37	9	90322049	90322049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:90322049C>T	ENST00000469640.2	+	27	4513	c.4138C>T	c.(4138-4140)Ccc>Tcc	p.P1380S	DAPK1_ENST00000472284.1_Missense_Mutation_p.P1355S|DAPK1_ENST00000408954.3_Missense_Mutation_p.P1355S|DAPK1_ENST00000491893.1_Missense_Mutation_p.P1289S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P1355S			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1355	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGATTTCCTCCCCAGCCCCCT	0.632000									Chronic Lymphocytic Leukemia, Familial Clustering of				18	39					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487645	87487645	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:87487645G>A	ENST00000327946.7	-	10	1585	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	GRID1_ENST00000536331.1_Silent_p.S71S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	500						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)	TCCCGTTCCAGGAGGTGTTAT	0.537000										Multiple Myeloma(13;0.14)			17	33					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21377744	21377744	+	Silent	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21377744A>T	ENST00000256958.2	+	14	1932	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	612					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACGTGGGTCATGTAGGACAT	0.328000													11	100					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708277	94708277	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:94708277T>C	ENST00000304338.3	+	10	1283	c.1129T>C	c.(1129-1131)Tgt>Cgt	p.C377R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	377						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACGGAAGAACTGTGCTTATAA	0.318000													7	19					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172340	78172340	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:78172340G>T	ENST00000369947.2	-	1	1150	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	261					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTGGACCCGGGGGAGTCGGTT	0.592000													33	71					6.50621e-10	9.06291e-10	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145096219	145096219	+	Missense_Mutation	SNP	C	C	A	rs148669001		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145096219C>A	ENST00000377470.3	+	4	1495	c.1393C>A	c.(1393-1395)Cgc>Agc	p.R465S	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	465										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGAGCGCGTACGGCT	0.632000													11	31					0.00136819	0.00150787	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103487291	103487291	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103487291T>G	ENST00000358392.2	-	9	1633	c.1316A>C	c.(1315-1317)cAg>cCg	p.Q439P	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q311P|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q388P|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q427P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	427	Triple-helical region (interrupted).				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)		TTCTCCTTTCTGTCCTTTCTC	0.353000													12	24					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46730580	46730580	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:46730580C>A	ENST00000398576.2	-	8	872	c.484G>T	c.(484-486)Gtc>Ttc	p.V162F	LCP1_ENST00000323076.2_Missense_Mutation_p.V162F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	162	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACCAAAGGACAATGCCATCT	0.383000			T	BCL6	NHL								17	28					1.56452e-12	2.29367e-12	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368531	72368531	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:72368531T>A	ENST00000335666.4	+	4	1229	c.1181T>A	c.(1180-1182)cTg>cAg	p.L394Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	394						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGTCCACCTGGCCTTGGAT	0.617000													28	68					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125083772	125083772	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:125083772C>A	ENST00000522917.1	+	31	4198	c.3992C>A	c.(3991-3993)cCc>cAc	p.P1331H	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1331H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1331						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAAAAGCCCCCAGGATTCT	0.522000													12	21					2.27111e-07	2.90776e-07	1	1	0
OR5M11	219487	broad.mit.edu	37	11	56309893	56309893	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56309893T>A	ENST00000528616.2	-	1	864	c.841A>T	c.(841-843)Agt>Tgt	p.S281C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACCGGACTCACAAAGGTG	0.388000													8	22					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6478988	6478988	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:6478988G>T	ENST00000381480.2	-	5	368	c.256C>A	c.(256-258)Cgc>Agc	p.R86S	DENND1C_ENST00000543576.1_Missense_Mutation_p.R42S|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	86	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCCGCAGGCGGCAGAAACCA	0.647000													14	54					0.000219431	0.000251763	1	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768565	31768565	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:31768565G>T	ENST00000355459.2	+	1	174	c.161G>T	c.(160-162)aGg>aTg	p.R54M		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	54	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTCTATAGGGGCTGTCAG	0.612000													26	41					1.1804e-14	1.79708e-14	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107867514	107867514	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:107867514A>G	ENST00000370067.1	+	3	1484	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	NTNG1_ENST00000542803.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370065.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370068.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370074.4_Missense_Mutation_p.Y286C|NTNG1_ENST00000370066.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370072.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370071.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370070.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	286	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGCTACTTTTACGCGATCTCA	0.463000													14	32					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143742671	143742671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:143742671G>T	ENST00000264170.4	+	9	1006	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	KYNU_ENST00000375773.2_Missense_Mutation_p.D250Y|KYNU_ENST00000409512.1_Missense_Mutation_p.D250Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	250					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGTTGGCTTTGATCTAGCACA	0.343000													7	21					0.00307968	0.00334748	1	1	0
HGF	3082	broad.mit.edu	37	7	81392160	81392160	+	Silent	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:81392160A>T	ENST00000222390.5	-	2	343	c.117T>A	c.(115-117)atT>atA	p.I39I	HGF_ENST00000423064.2_Silent_p.I39I|HGF_ENST00000457544.2_Silent_p.I39I|HGF_ENST00000354224.6_Silent_p.I39I|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Silent_p.I39I|HGF_ENST00000444829.2_Silent_p.I39I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	39	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAATTCATGAATTGTATTTC	0.269000													6	7					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719114	35719114	+	Missense_Mutation	SNP	G	G	T	rs147533788		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:35719114G>T	ENST00000324675.3	-	1	518	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACACTCGCCCGGCTCCTCACA	0.607000													28	58					1.16021e-09	1.59277e-09	1	1	0
OGFRL1	79627	broad.mit.edu	37	6	72011258	72011258	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:72011258A>G	ENST00000370435.4	+	7	996	c.862A>G	c.(862-864)Aga>Gga	p.R288G	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	288						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTATACAATTAGAGACAGAAG	0.408000													22	34					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525459	248525459	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248525459C>A	ENST00000366475.1	+	1	577	c.577C>A	c.(577-579)Ccc>Acc	p.P193T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACATTCACTCCCATCACCAT	0.522000													53	104					5.39261e-20	8.62455e-20	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596713	58596713	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:58596713G>T	ENST00000240727.6	-	7	1271	c.872C>A	c.(871-873)gCc>gAc	p.A291D	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A155D|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A347D|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A291D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCCTCGCAGGCGCACCCAGC	0.746000													20	53					1.00905e-13	1.51676e-13	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67473711	67473711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67473711C>A	ENST00000327367.4	+	6	1101	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	SMAD3_ENST00000540846.2_Missense_Mutation_p.S159Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.S69Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.S220Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	264	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCGACCCCTCCAATTCGGAG	0.587000													17	27					6.44725e-10	9.00719e-10	1	1	0
ASL	435	broad.mit.edu	37	7	65551735	65551735	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:65551735G>T	ENST00000304874.9	+	8	631	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S	ASL_ENST00000380839.4_Intron|ASL_ENST00000395332.3_Missense_Mutation_p.A177S|ASL_ENST00000395331.3_Missense_Mutation_p.A177S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	177					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCACAGCCACGCCGTGGCACT	0.687000													3	9					1	1	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4118407	4118407	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:4118407G>T	ENST00000324333.10	-	3	799	c.606C>A	c.(604-606)agC>agA	p.S202R	GLIS3_ENST00000381971.3_Missense_Mutation_p.S357R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	202					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)		GGGGAATGCAGCTGCCGCGCA	0.736000													14	16					4.3838e-07	5.53805e-07	1	1	0
IQCH	64799	broad.mit.edu	37	15	67687863	67687863	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67687863G>T	ENST00000335894.4	+	13	1933	c.1867G>T	c.(1867-1869)Gtt>Ttt	p.V623F	IQCH_ENST00000546225.1_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	623										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAATGTGGCAGTTCCTCCTGG	0.428000													26	43					2.65835e-16	4.09972e-16	1	1	0
SPEG	10290	broad.mit.edu	37	2	220333618	220333618	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333618G>T	ENST00000312358.7	+	12	3471	c.3339G>T	c.(3337-3339)cgG>cgT	p.R1113R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				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)		TGCGGCTGCGGCAGGACGGGG	0.642000													10	26					0.0581538	0.0597901	1	1	0
TSPAN14	81619	broad.mit.edu	37	10	82271934	82271934	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:82271934G>T	ENST00000429989.2	+	6	708	c.485G>T	c.(484-486)tGg>tTg	p.W162L	TSPAN14_ENST00000341863.6_Missense_Mutation_p.W105L|TSPAN14_ENST00000372156.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.W145L|TSPAN14_ENST00000372158.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000481124.1_Missense_Mutation_p.W39L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	162						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTGAAGACTGGGACCTCAAC	0.597000													12	27					2.27111e-07	2.90776e-07	1	1	0
SLC41A2	84102	broad.mit.edu	37	12	105280120	105280120	+	Silent	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:105280120T>A	ENST00000258538.3	-	5	1105	c.978A>T	c.(976-978)atA>atT	p.I326I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	326						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGGCAAGAGTTATAAGGTCGC	0.368000													7	22					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24492992C>A	ENST00000264463.4	-	10	2065	c.1558G>T	c.(1558-1560)Ggt>Tgt	p.G520C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G520S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328000										HNSCC(23;0.051)			11	34					1.5842e-08	2.09609e-08	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34033498	34033498	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:34033498C>A	ENST00000382065.3	-	3	1187	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.D88Y	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	88	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCACCTTTGTCGCCCTTCTCA	0.547000													27	49					7.41945e-09	9.92743e-09	1	1	0
EGLN3	112399	broad.mit.edu	37	14	34419948	34419948	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:34419948C>T	ENST00000547327.2	-	1	339	c.11G>A	c.(10-12)gGa>gAa	p.G4E	EGLN3_ENST00000553215.1_Missense_Mutation_p.G4E|EGLN3_ENST00000250457.3_Missense_Mutation_p.G4E			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	4					apoptosis	cytoplasm|nucleus	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|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CATGATGTGTCCCAGGGGCAT	0.627000													35	74					0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006792	29006792	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:29006792A>G	ENST00000395366.2	+	5	812	c.540A>G	c.(538-540)caA>caG	p.Q180Q	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Silent_p.Q180Q|PPP1CB_ENST00000358506.2_Silent_p.Q180Q	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	180					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGACCTGCAATCTATGGAGC	0.318000													11	14					0	0	1	0	0
RBM18	92400	broad.mit.edu	37	9	125004299	125004299	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:125004299A>G	ENST00000417201.3	-	6	577	c.437T>C	c.(436-438)aTt>aCt	p.I146T	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	146							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TTTTGCTTCAATGGCTTTTAT	0.413000													11	6					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848509	215848509	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:215848509A>G	ENST00000366943.2	-	63	13130	c.12744T>C	c.(12742-12744)caT>caC	p.H4248H	USH2A_ENST00000307340.3_Silent_p.H4248H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4248	Fibronectin type-III 27.				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)		AGCTACAGGTATGCCCAGCTG	0.413000										HNSCC(13;0.011)			12	16					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657003	8657003	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:8657003C>A	ENST00000595838.1	-	1	77	c.44G>T	c.(43-45)tGt>tTt	p.C15F	ADAMTS10_ENST00000270328.4_Intron|ADAMTS10_ENST00000597188.1_Intron			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	931					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGGGGGAGACAGGAAGGAGT	0.677000													11	34					1.58986e-06	1.98733e-06	1	1	0
SULT1C2	6819	broad.mit.edu	37	2	108910170	108910170	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:108910170T>A	ENST00000326853.5	+	2	500	c.47T>A	c.(46-48)gTg>gAg	p.V16E	SULT1C2_ENST00000409880.1_Missense_Mutation_p.V16E|SULT1C2_ENST00000437390.2_Missense_Mutation_p.V16E|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V16E|SULT1C2_ENST00000492554.1_3'UTR	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	16					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAAAGAGGTGGAGGGGACC	0.512000													11	23					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56973706	56973706	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56973706C>G	ENST00000591790.1	-	2	1462		c.e2+1		ZNF667_ENST00000504904.3_Splice_Site|ZNF667_ENST00000342634.3_Splice_Site|ZNF667_ENST00000292069.6_Splice_Site			Q5HYK9	ZN667_HUMAN	zinc finger protein 667						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGCCACTTACCTTGGATTTG	0.537000													22	78					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426259	125426259	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:125426259G>A	ENST00000284674.1	+	1	389	c.336G>A	c.(334-336)ctG>ctA	p.L112L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	112					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCTTCCCGCTGAGCTACCGGG	0.701000													10	17					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878065	134878065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:134878065G>A	ENST00000354475.4	-	11	1608	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	WDR91_ENST00000423565.1_Missense_Mutation_p.S491L|WDR91_ENST00000344400.5_Missense_Mutation_p.S526L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	526										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTCTGGTGCTGAGAAGTCCAC	0.602000													16	41					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377207	2377207	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:2377207C>A	ENST00000202625.2	+	4	541	c.480C>A	c.(478-480)gaC>gaA	p.D160E	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.D160E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	160					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)	TGCTCAGCGACAGCGGCATCA	0.612000													9	30					0.335167	0.338733	1	1	0
TTC40	54777	broad.mit.edu	37	10	134671183	134671183	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:134671183T>C	ENST00000368586.5	-	39	5585	c.5485A>G	c.(5485-5487)Atc>Gtc	p.I1829V	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	494										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGCCCTGGATGCTGTGAAGC	0.552000													3	10					0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145161460	145161460	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145161460A>G	ENST00000534585.1	+	5	984	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	MAF1_ENST00000322428.5_Missense_Mutation_p.Y168C|MAF1_ENST00000532522.1_Missense_Mutation_p.Y168C			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	168					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCAGCTATAACCCAGAC	0.562000													11	36					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82433865	82433865	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:82433865G>T	ENST00000370728.1	+	16	3138	c.2493G>T	c.(2491-2493)atG>atT	p.M831I	LPHN2_ENST00000370725.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M818I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M831I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M818I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M818I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M818I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.M831I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M756I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M831I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M831I			O95490	LPHN2_HUMAN	latrophilin 2	831	GPS.				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)		CAATTCTCATGGCCCACAGGG	0.423000													15	30					7.81268e-19	1.22476e-18	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152763221	152763221	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152763221G>T	ENST00000367255.5	-	31	4598	c.3997C>A	c.(3997-3999)Cgc>Agc	p.R1333S	SYNE1_ENST00000413186.2_Missense_Mutation_p.R1333S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1340S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1323S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1399S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1340S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1333					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)		TGGATGCGGCGTTCCTGCCTC	0.622000										HNSCC(10;0.0054)			30	79					5.60225e-13	8.34191e-13	1	1	0
DPH6	89978	broad.mit.edu	37	15	35834663	35834663	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:35834663A>G	ENST00000440392.2	-	2	119	c.69T>C	c.(67-69)gcT>gcC	p.A23A	DPH6_ENST00000256538.4_Silent_p.A23A	NM_001141972.1	NP_001135444.1			diphthamine biosynthesis 6																		TCTGATGCCCAGCAGCAATGC	0.398000													12	41					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208212312	208212312	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208212312G>C	ENST00000367033.3	-	25	5275	c.4518C>G	c.(4516-4518)aaC>aaG	p.N1506K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1506					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGTTGTCAGGGTTGACGCAGT	0.488000													13	31					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134751117	134751117	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:134751117G>A	ENST00000368586.5	-	6	699	c.599C>T	c.(598-600)aCg>aTg	p.T200M	TTC40_ENST00000368582.2_Missense_Mutation_p.T200M|TTC40_ENST00000368585.3_Missense_Mutation_p.T200M	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGAGCTGCCGTGGAGCAGAA	0.463000													24	41					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725436	26725436	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:26725436C>A	ENST00000396005.3	-	5	893	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G195V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	195					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CGTTAAGAAGCCCACAATCAT	0.403000													26	60					7.92952e-12	1.14833e-11	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113529455	113529455	+	Splice_Site	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529455C>T	ENST00000297405.5	-	28	4809		c.e28-1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						GCAACAGAACCTATCAAAAGA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	14					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193171956	193171956	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193171956C>A	ENST00000342695.4	-	17	2283	c.1961G>T	c.(1960-1962)gGc>gTc	p.G654V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G635V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	654					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)		GACTCGGAAGCCCTGTGTCGT	0.438000													17	13					1.28384e-07	1.65713e-07	1	1	0
BARX2	8538	broad.mit.edu	37	11	129245990	129245990	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:129245990G>A	ENST00000281437.4	+	1	156	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CAGCCAGGCGGCGCTACAAGA	0.647000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	54					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156222723	156222723	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:156222723G>A	ENST00000361813.5	-	18	2793	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	883	PINc.				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)					TCCTTGGGATGATGACAATGA	0.532000													9	10					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64092398	64092398	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:64092398G>C	ENST00000392769.2	-	8	957	c.739C>G	c.(739-741)Cat>Gat	p.H247D	CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.H247D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	247						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAGAGAAAATGATCATCATGG	0.338000													11	23					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27725977	27725977	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:27725977G>T	ENST00000555083.1	+	6	899	c.756G>T	c.(754-756)gaG>gaT	p.E252D	GABRG3_ENST00000333743.6_Intron	NM_001270873.1	NP_001257802.1	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	0					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAGCCAGAGAGGCCTAAGGCC	0.413000													4	8					0.00909568	0.00966543	1	1	0
NAA25	80018	broad.mit.edu	37	12	112481547	112481547	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:112481547T>A	ENST00000261745.4	-	18	2380	c.2132A>T	c.(2131-2133)aAc>aTc	p.N711I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	711						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTCTCCGAGTTCTTTGGCTC	0.493000													16	49					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776141	38776141	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:38776141A>G	ENST00000308973.4	-	4	1676	c.1071T>C	c.(1069-1071)aaT>aaC	p.N357N	TLR10_ENST00000508334.1_Silent_p.N357N|TLR10_ENST00000361424.2_Silent_p.N357N|TLR10_ENST00000506111.1_Silent_p.N357N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	357					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTAAGATATTATTGGCAAAAT	0.333000													21	15					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496308	110496308	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:110496308C>G	ENST00000324068.1	-	4	601	c.434G>C	c.(433-435)gGa>gCa	p.G145A	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	145	Calpain catalytic.				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						GACCAGATCTCCGTTAATGGT	0.408000													19	14					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163784	139163784	+	Silent	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:139163784A>C	ENST00000395297.1	-	13	3104	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	978										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTATGTTTAGCCTCCGGGA	0.498000										HNSCC(54;0.14)			14	44					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178487	140178487	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:140178487C>A	ENST00000458420.3	+	7	1288	c.1098C>A	c.(1096-1098)gtC>gtA	p.V366V	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885).		homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572000										HNSCC(16;0.037)			7	51					0.0381472	0.0393912	1	1	0
CCDC181	57821	broad.mit.edu	37	1	169390784	169390784	+	Silent	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169390784T>G	ENST00000545005.1	-	4	1392	c.885A>C	c.(883-885)ccA>ccC	p.P295P	CCDC181_ENST00000367806.3_Silent_p.P295P|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.P295P					coiled-coil domain containing 181																		TGCGGTTGAGTGGTGGCTGAG	0.483000													32	55					0	0	1	0	0
GNG13	51764	broad.mit.edu	37	16	848729	848729	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:848729G>A	ENST00000248150.4	-	3	295	c.194C>T	c.(193-195)aCc>aTc	p.T65I		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	65					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				TCACAGGATGGTGCATTTGCC	0.622000													63	228					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116263644	116263644	+	Missense_Mutation	SNP	C	C	A	rs141525046	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:116263644C>A	ENST00000606080.1	-	8	1897	c.1451G>T	c.(1450-1452)cGt>cTt	p.R484L	FRK_ENST00000538210.1_Missense_Mutation_p.R342L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	484	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAGTTTCCAACGCAGTGTCTC	0.388000													16	42					2.98522e-18	4.6644e-18	1	1	0
UROC1	131669	broad.mit.edu	37	3	126219696	126219696	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126219696C>T	ENST00000290868.2	-	11	1040	c.987G>A	c.(985-987)ttG>ttA	p.L329L	UROC1_ENST00000383579.3_Silent_p.L389L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	329					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)		CCGTCGTGTCCAATTCGTGGA	0.642000													19	30					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113829140	113829140	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:113829140C>A	ENST00000512097.3	+	8	2441	c.1423C>A	c.(1423-1425)Caa>Aaa	p.Q475K	KCNN2_ENST00000264773.3_Missense_Mutation_p.Q475K|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.Q127K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	475	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACTGAATGACCAAGCAAACAC	0.408000													4	17					0.014758	0.0154747	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230656690	230656690	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230656690T>A	ENST00000283943.5	-	28	4260	c.4082A>T	c.(4081-4083)cAg>cTg	p.Q1361L	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1409L|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1091L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1361					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCGTACTGCCTGATACACAGT	0.418000													22	44					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53421458	53421458	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:53421458C>A	ENST00000377942.3	-	1	1317	c.1114G>T	c.(1114-1116)Gct>Tct	p.A372S	PCDH8_ENST00000338862.4_Missense_Mutation_p.A372S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	372					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGGCGGCAGCGGCGAAGGGT	0.741000													5	11					1.23904e-05	1.48248e-05	1	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	29					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579617	45579617	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:45579617C>T	ENST00000303809.2	-	1	229	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	5					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CGCTGCCGGCCTTGCGGCGGG	0.751000													33	42					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293497	33293497	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:33293497G>A	ENST00000280979.4	+	13	6648	c.6478G>A	c.(6478-6480)Gtt>Att	p.V2160I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2160					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGAGGCCTGTGTTGAGGGTGA	0.473000													4	15					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820247	179820247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:179820247C>T	ENST00000367612.3	-	4	673	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	96						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTTCCGCCATCCAGAAAACTC	0.448000													7	34					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186948481	186948481	+	Silent	SNP	C	C	T	rs149831494	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:186948481C>T	ENST00000367466.3	+	17	2147	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	PLA2G4A_ENST00000442353.2_Silent_p.I605I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	665	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AGAAAGAAATCGCTGACTTTG	0.348000													8	22					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433317	73433317	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652000													19	20					1.87028e-06	2.32561e-06	1	1	0
FSHR	2492	broad.mit.edu	37	2	49381409	49381409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:49381409C>G	ENST00000406846.2	-	1	267	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	FSHR_ENST00000304421.4_Missense_Mutation_p.E50Q|FSHR_ENST00000346173.3_Missense_Mutation_p.E50Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	50					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.E50K(1)		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)	ACTCACAGTTCAATGGCATTC	0.453000									Gonadal Dysgenesis, 46 XX				7	13					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543409	141543409	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:141543409C>A	ENST00000442267.2	-	21	3815	c.3741G>T	c.(3739-3741)cgG>cgT	p.R1247R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1247						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCCATCATCCGGATGTTTT	0.597000													23	24					6.44725e-10	9.00719e-10	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34383835	34383835	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:34383835C>A	ENST00000373381.4	-	5	956	c.780G>T	c.(778-780)tcG>tcT	p.S260S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	220	CUB 2.					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)				TATGGTACTCCGAGGGGAAGT	0.582000													7	26					1.26484e-09	1.73142e-09	1	1	0
TM7SF2	7108	broad.mit.edu	37	11	64880758	64880758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:64880758G>T	ENST00000279263.7	+	4	533	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G8V|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G124V|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	124					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGCCTCTGGGGGCGCTCCCG	0.642000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					5.50884e-06	6.65826e-06	1	1	0
HDC	3067	broad.mit.edu	37	15	50544696	50544696	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:50544696C>A	ENST00000267845.3	-	9	1374	c.972G>T	c.(970-972)ctG>ctT	p.L324L	HDC_ENST00000543581.1_Silent_p.L324L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	324					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGGTCTGCTGCAGCTTGTACT	0.602000													24	55					3.08376e-08	4.04637e-08	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33196033	33196033	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33196033G>C	ENST00000423113.1	-	15	2369	c.2370C>G	c.(2368-2370)ttC>ttG	p.F790L	ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	790					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGGATTCTTGAAATTATTAA	0.313000													22	46					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24193920	24193920	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:24193920G>T	ENST00000396671.2	-	6	693	c.345C>A	c.(343-345)acC>acA	p.T115T	THRB_ENST00000280696.5_Silent_p.T130T|THRB_ENST00000416420.1_Silent_p.T115T|THRB_ENST00000356447.4_Silent_p.T115T	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	115					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTGATACCCGGTGGCTTTGT	0.488000													11	8					1.61879e-10	2.28168e-10	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751267	26751267	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751267C>A	ENST00000396641.2	+	2	696	c.104C>A	c.(103-105)cCc>cAc	p.P35H	LRRC3B_ENST00000417744.1_Missense_Mutation_p.P35H|LRRC3B_ENST00000456208.2_Missense_Mutation_p.P35H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGTATGTGTCCCAAGGGCTGT	0.438000													16	22					1.52009e-12	2.23543e-12	1	1	0
PCDHA9	9752	broad.mit.edu	37	5	140229239	140229239	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140229239T>C	ENST00000378122.3	+	1	1883	c.1159T>C	c.(1159-1161)Tgc>Cgc	p.C387R	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.C387R|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														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)			GCAGGTTACCTGCTCCCTGAC	0.562000													48	85					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499018	110499018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499018G>A	ENST00000378402.5	+	59	9952	c.9848G>A	c.(9847-9849)gGc>gAc	p.G3283D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					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)			GTACTGGTTGGCTCATTCACT	0.383000										HNSCC(38;0.096)			19	46					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659361	152659361	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:152659361C>T	ENST00000368780.3	+	2	96	c.42C>T	c.(40-42)ccC>ccT	p.P14P	LCE2B_ENST00000417924.2_Silent_p.P14P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	14	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCCTCCCAAGTGTCCTC	0.498000													29	93					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468093	50468093	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:50468093A>T	ENST00000331340.3	+	8	1483	c.1328A>T	c.(1327-1329)gAg>gTg	p.E443V	IKZF1_ENST00000439701.1_Missense_Mutation_p.E401V|IKZF1_ENST00000346667.4_Missense_Mutation_p.E213V|IKZF1_ENST00000438033.1_Missense_Mutation_p.E356V|IKZF1_ENST00000357364.4_Missense_Mutation_p.E356V|IKZF1_ENST00000343574.5_Missense_Mutation_p.E356V|IKZF1_ENST00000359197.5_Missense_Mutation_p.E401V|IKZF1_ENST00000349824.4_Missense_Mutation_p.E300V|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	443					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCTCCGAGAACTCGCAG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	40					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747067	30747067	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:30747067A>G	ENST00000263056.1	+	7	1624	c.928A>G	c.(928-930)Atc>Gtc	p.I310V	MAP3K8_ENST00000375321.1_Missense_Mutation_p.I310V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.I310V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	310	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.I310V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAAAGCAGACATCTACAGCCT	0.547000													21	25					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432781	10432781	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:10432781C>A	ENST00000245503.5	-	25	3519	c.3135G>T	c.(3133-3135)gaG>gaT	p.E1045D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1045D|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1045					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTTTCTTGCTCCAAGGACC	0.383000													11	26					2.27111e-07	2.90776e-07	1	1	0
CRB1	23418	broad.mit.edu	37	1	197404094	197404094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:197404094delG	ENST00000367397.1	+	5	2102	c.1244delG	c.(1243-1245)tgfs	p.W415fs	CRB1_ENST00000544212.1_Frame_Shift_Del_p.W515fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.W1010fs|CRB1_ENST00000367400.3_Frame_Shift_Del_p.W1034fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.W922fs|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1034	EGF-like 10; calcium-binding (Potential).				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						GATGGCACATGGCACGAAGTG	0.443													22	31	---	---	---	---					
BARD1	580	broad.mit.edu	37	2	215646211	215646211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215646211delC	ENST00000260947.4	-	4	521	c.387delG	c.(385-387)agfs	p.R129fs	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	129					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAAACTTTTCCTAGGTTTAT	0.328									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	18	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226273674	226273674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:226273674delG	ENST00000272907.6	+	2	491	c.78delG	c.(76-78)atfs	p.M26fs	NYAP2_ENST00000409269.2_Frame_Shift_Del_p.M26fs	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	26																	TTGAGGATATGGGGATGAAGG	0.428													14	43	---	---	---	---					
SLITRK3	22865	broad.mit.edu	37	3	164907558	164907558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:164907558delC	ENST00000475390.1	-	2	1504	c.1061delG	c.(1060-1062)gtfs	p.G354fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.G354fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	354						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGGTTTGGACCAGGATATAA	0.502										HNSCC(40;0.11)			50	181	---	---	---	---					
SLC2A2	6514	broad.mit.edu	37	3	170727800	170727800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:170727800delC	ENST00000314251.3	-	4	522	c.443delG	c.(442-444)gafs	p.G148fs	SLC2A2_ENST00000382808.4_Frame_Shift_Del_p.G29fs	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	148					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATGAGATGGTCCCAATTTTGA	0.373													16	14	---	---	---	---					
NDST3	9348	broad.mit.edu	37	4	119154206	119154206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119154206delC	ENST00000296499.5	+	9	2262	c.1859delC	c.(1858-1860)tcfs	p.S620fs	NDST3_ENST00000433996.2_Frame_Shift_Del_p.S539fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	620	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGCATCCTTCCATCCTTAGT	0.373													8	25	---	---	---	---					
LCA5	167691	broad.mit.edu	37	6	80197310	80197310	+	Frame_Shift_Del	DEL	G	G	-	rs17857375		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:80197310delG	ENST00000392959.1	-	9	2116	c.1505delC	c.(1504-1506)cafs	p.P502fs	LCA5_ENST00000369846.4_Frame_Shift_Del_p.P502fs	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	502				P -> R (in Ref. 3; AAH50327).	protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTTCTCTCTGGGGAGTGTAG	0.383													18	75	---	---	---	---					
USH1C	10083	broad.mit.edu	37	11	17531213	17531213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:17531213delG	ENST00000005226.7	-	18	1702	c.1703delC	c.(1702-1704)cafs	p.P569fs	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						GTTGGAGGGTGGAGGGTGGGG	0.627													7	8	---	---	---	---					
OR8H1	219469	broad.mit.edu	37	11	56058244	56058244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56058244delG	ENST00000313022.2	-	1	322	c.295delC	c.(295-297)agfs	p.Q99fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	99					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)					AAGAACATCTGGGCAAAGCAG	0.428													29	107	---	---	---	---					
RP11-856F16.2	0	broad.mit.edu	37	11	94647237	94647240	+	RNA	DEL	TACC	TACC	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:94647237_94647240delTACC	ENST00000545958.1	-	0	97																											TATGTCAAAATACCAGAGCAACCC	0.422													8	27	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557													7	488	---	---	---	---					
PRKCB	5579	broad.mit.edu	37	16	24043458	24043458	+	Splice_Site	DEL	A	A	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:24043458delA	ENST00000303531.7	+	4	442	c.288_splice	c.e4-1	p.D97_splice	PRKCB_ENST00000321728.7_Splice_Site_p.D97_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	97					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGGCTCCAGGACCCCCGCAGC	0.537													16	23	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28847078	28847079	+	Splice_Site	INS	-	-	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:28847078_28847079insG	ENST00000336783.4	+	21	3061_3062	c.2895_splice	c.e21+1	p.R965_splice	ATXN2L_ENST00000564304.1_Splice_Site_p.R971_splice|ATXN2L_ENST00000570200.1_Splice_Site_p.R965_splice|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Splice_Site_p.R965_splice|ATXN2L_ENST00000382686.4_Splice_Site_p.R965_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.R965_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.R965_splice	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	965						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATGTTACCCAGGTAAGAGCCC	0.629													13	74	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs151078009		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													3	4	---	---	---	---					
FGF22	27006	broad.mit.edu	37	19	643528	643528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:643528delG	ENST00000215530.5	+	3	468	c.437delG	c.(436-438)agfs	p.R146fs	FGF22_ENST00000586042.2_Frame_Shift_Del_p.E138fs|FGF22_ENST00000166133.3_Frame_Shift_Del_p.R105fs	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	146					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity			endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGGACAGGAggggggggccc	0.736													16	40	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248382	2248402	+	In_Frame_Del	DEL	CTCCCGGGGTCCATCCGTCGG	CTCCCGGGGTCCATCCGTCGG	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2248382_2248402delCTCCCGGGGTCCATCCGTCGG	ENST00000221494.4	+	9	1650_1670	c.1232_1252delCTCCCGGGGTCCATCCGTCGG	c.(1231-1254)cct>c	p.PPGVHPSA411del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	411	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CACCCCCAACCTCCCGGGGTCCATCCGTCGGCTCCTGGGGT	0.719													2	4	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9058463	9058463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9058463delG	ENST00000397910.4	-	3	29186	c.28983delC	c.(28981-28983)acfs	p.T9661fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9663	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						GGGTGGTGATGGTTATTTCTG	0.498													16	27	---	---	---	---					
ZNF473	25888	broad.mit.edu	37	19	50549456	50549457	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:50549456_50549457insG	ENST00000595661.1	+	6	2251_2252	c.1756_1757insG	c.(1756-1758)gggfs	p.G586fs	ZNF473_ENST00000270617.3_Frame_Shift_Ins_p.G586fs|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Frame_Shift_Ins_p.G586fs|ZNF473_ENST00000445728.3_Frame_Shift_Ins_p.G574fs			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	586					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GATTCACACCAGGGGAGTGAAG	0.455													11	18	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099177	56099177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56099177delC	ENST00000426658.2	-	1	746	c.85delG	c.(85-87)agfs	p.E31fs	CTCFL_ENST00000433949.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.E31fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	31					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTTTCCTCCTCCTTCAGGCCT	0.532													64	168	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47681227	47681228	+	Frame_Shift_Ins	INS	-	-	TTCG			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:47681227_47681228insTTCG	ENST00000397708.1	-	15	3687_3688	c.3433_3434insCGAA	c.(3433-3435)ggafs	p.G1145fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.G1145fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1145					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)					CTCCTGCTCCCTTCGCTCTCTT	0.500													41	123	---	---	---	---					
ADRBK2	157	broad.mit.edu	37	22	26083503	26083503	+	Splice_Site	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:26083503delG	ENST00000324198.5	+	11	1018		c.e11-1			NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTGATTCCAGGGGGCGATTT	0.403													8	20	---	---	---	---					
ADM2	79924	broad.mit.edu	37	22	50921379	50921379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:50921379delC	ENST00000362068.2	+	2	759	c.244delC	c.(244-246)ccfs	p.P83fs	ADM2_ENST00000395738.2_3'UTR			Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	0					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTGCTGTGCCCCCGTCCAG	0.677													4	4	---	---	---	---