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
CRYGB	1419	broad.mit.edu	37	2	209010708	209010708	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:209010708G>A	ENST00000260988.4	-	2	89	c.42C>T	c.(40-42)ggC>ggT	p.G14G		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	14	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CGTAGCTGCGGCCCTGGAAGG	0.567000													19	49					0	0	0.000229342	0	0
MALAT1	378938	broad.mit.edu	37	11	65266106	65266106	+	RNA	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:65266106T>C	ENST00000534336.1	+	0	874					NR_002819.2																						AGTTGCGTAATGGAAAGTAAA	0.483000													8	29					0	0	0.000274275	0	0
ZNF205	7755	broad.mit.edu	37	16	3169723	3169723	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:3169723C>G	ENST00000382192.3	+	7	1267	c.1062C>G	c.(1060-1062)caC>caG	p.H354Q	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.H354Q	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TCATCCAGCACCAGATCATCC	0.672000													11	34					0	0	0.000219431	0	0
DOCK3	1795	broad.mit.edu	37	3	51308301	51308301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:51308301C>T	ENST00000266037.9	+	24	2434	c.2411C>T	c.(2410-2412)aCc>aTc	p.T804I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	804						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAATGTTCACCGTGCAAGAG	0.517000													13	15					0	0	0.00010058	0	0
SFTPD	6441	broad.mit.edu	37	10	81706217	81706217	+	Splice_Site	SNP	C	C	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:81706217C>A	ENST00000372292.3	-	2	239	c.199_splice	c.e2+1	p.G67_splice		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	67	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCACCCTACCTGGGTCCCCC	0.602000													9	6					5.68852e-11	1.56506e-09	0.000274275	1	0
DNAH9	1770	broad.mit.edu	37	17	11835419	11835419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:11835419G>A	ENST00000262442.3	+	64	12262	c.12194G>A	c.(12193-12195)cGa>cAa	p.R4065Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3989Q|DNAH9_ENST00000396001.2_Missense_Mutation_p.R377Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4065	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGAAAGACGAAAATTTGGG	0.498000													25	56					0	0	0.000375601	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212241	26212241	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:26212241G>T	ENST00000379034.1	+	2	427	c.278G>T	c.(277-279)aGt>aTt	p.S93I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	93	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						GATGAGAAAAGTCCAAGCACC	0.522000													19	44					6.94344e-10	1.90345e-08	7.07596e-05	1	0
EPX	8288	broad.mit.edu	37	17	56274326	56274326	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:56274326G>A	ENST00000225371.5	+	7	938	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	276			K -> R (in dbSNP:rs35074452).		hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGCATCAAGAACCAGCGTG	0.567000													15	23					0	0	7.07596e-05	0	0
MYH8	4626	broad.mit.edu	37	17	10303910	10303910	+	Missense_Mutation	SNP	G	G	A	rs142073810	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:10303910G>A	ENST00000403437.2	-	27	3626	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1178					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGTCCCTGCGCAGTTTCTGA	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				11	59					0	0	0.000219431	0	0
KRT77	374454	broad.mit.edu	37	12	53096993	53096993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:53096993C>T	ENST00000341809.3	-	1	254	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	76	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTCCCCATTAGATTA	0.587000													5	11					0	0	1.23904e-05	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039821	36039821	+	Splice_Site	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:36039821A>G	ENST00000258840.6	-	39	6510		c.e39+1		RALGAPA1_ENST00000389698.3_Splice_Site|RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAAAAGGATACAAGTTTTGA	0.323000													6	33					0	0	0.000157383	0	0
CMYA5	202333	broad.mit.edu	37	5	79025256	79025256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:79025256G>A	ENST00000446378.2	+	2	699	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	223						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTACATAGGAACAGTACAA	0.318000													15	34					0	0	0.000132079	0	0
RGP1	9827	broad.mit.edu	37	9	35751265	35751265	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:35751265C>T	ENST00000378078.4	+	6	631	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	RGP1_ENST00000456972.2_Missense_Mutation_p.L204F	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	164										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTCTAGGCCTTCAGGATGT	0.488000													13	111					0	0	0.000219431	0	0
RP1L1	94137	broad.mit.edu	37	8	10466818	10466818	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:10466818C>T	ENST00000382483.3	-	4	5013	c.4790G>A	c.(4789-4791)gGg>gAg	p.G1597E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1597					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCAGCTCCCCGGTGAGGGC	0.697000													4	13					0	0	0.00024832	0	0
FANCD2	2177	broad.mit.edu	37	3	10127572	10127572	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:10127572G>A	ENST00000287647.3	+	33	3394	c.3301G>A	c.(3301-3303)Gga>Aga	p.G1101R	FANCD2_ENST00000419585.1_Missense_Mutation_p.G1101R|FANCD2_ENST00000383806.1_Missense_Mutation_p.G1101R|FANCD2_ENST00000383807.1_Missense_Mutation_p.G1101R|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1101					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTGAAACAGGGAGAACACAG	0.453000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	31					0	0	0.000308642	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221057	140221057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:140221057G>A	ENST00000531613.1	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PCDHA8_ENST00000378123.3_Missense_Mutation_p.D51N|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|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGCGCAGGACCTGGGGCT	0.657000													6	48					0	0	0.000274275	0	0
IRX2	153572	broad.mit.edu	37	5	2748559	2748559	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:2748559C>T	ENST00000382611.6	-	3	1511	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	IRX2_ENST00000302057.5_Silent_p.L421L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	421						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCGCGGTGTGCAGGGCCTCGC	0.711000													17	26					0	0	7.07596e-05	0	0
TIE1	7075	broad.mit.edu	37	1	43783328	43783328	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:43783328G>A	ENST00000372476.3	+	16	2793	c.2714G>A	c.(2713-2715)gGg>gAg	p.G905E	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.G550E	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	905	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCTCCTGGGGGCCTGTAAG	0.542000													34	24					0	0	0.000339439	0	0
GNL3L	54552	broad.mit.edu	37	X	54569418	54569418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:54569418C>T	ENST00000336470.4	+	6	476	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GNL3L_ENST00000360845.2_Missense_Mutation_p.P113S|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	113					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAATATGTTTCCTCAGCTGGA	0.488000													5	24					0	0	1.23904e-05	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130339294	130339294	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:130339294G>A	ENST00000299164.2	+	5	1680	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	560	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGTGAGGGTGAAATACCGAT	0.682000													9	12					0	0	0.000274275	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061597	12061597	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:12061597G>A	ENST00000053243.1	+	3	666	c.448G>A	c.(448-450)Gag>Aag	p.E150K	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.E101K	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	150					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCCAGCTATGGAGGAAGGCGC	0.502000			T	IL2	intestinal T-cell lymphoma								28	38					0	0	0.000279167	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19854289	19854289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:19854289C>T	ENST00000397821.3	-	2	406	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G39E	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	39	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTTGATCTGTCCCTCCCACCA	0.522000													33	47					0	0	0.000159656	0	0
HUWE1	10075	broad.mit.edu	37	X	53592178	53592178	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:53592178T>C	ENST00000342160.3	-	49	7187	c.6730A>G	c.(6730-6732)Aat>Gat	p.N2244D	HUWE1_ENST00000262854.6_Missense_Mutation_p.N2244D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2244					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAGCAGCATTGACTGTGTTG	0.453000													8	15					0	0	0.000274275	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167065	146167065	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:146167065G>A	ENST00000497985.1	-	8	1231	c.792C>T	c.(790-792)aaC>aaT	p.N264N	PLSCR2_ENST00000336685.2_Silent_p.N191N	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	191					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GGATTCCAAAGTTGTCAGCAT	0.393000													43	40					0	0	8.96297e-05	0	0
MTMR12	54545	broad.mit.edu	37	5	32235160	32235160	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:32235160C>T	ENST00000382142.3	-	14	1590	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Missense_Mutation_p.E474K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	474	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGTAAGTCTCTGTGAATTCA	0.418000													47	30					0	0	0.000147903	0	0
COL7A1	1294	broad.mit.edu	37	3	48614170	48614170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:48614170G>A	ENST00000328333.8	-	67	5746	c.5639C>T	c.(5638-5640)cCt>cTt	p.P1880L	COL7A1_ENST00000454817.1_Intron	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1880	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGATACCAGGAGCTCCACG	0.612000													4	5					0	0	0.00024832	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864632	131864632	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:131864632G>A	ENST00000359827.3	-	20	4650	c.3688C>T	c.(3688-3690)Ccg>Tcg	p.P1230S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1230S			Q9HCM2	PLXA4_HUMAN	plexin A4	1230	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCTGTCCGGGGCAATGTAC	0.637000													9	10					0	0	3.86212e-05	0	0
OVCA2	124641	broad.mit.edu	37	17	1946172	1946172	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:1946172C>T	ENST00000572195.1	+	2	473	c.458C>T	c.(457-459)cCc>cTc	p.P153L	DPH1_ENST00000263083.6_3'UTR|DPH1_ENST00000570477.1_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	153					response to retinoic acid	cytoplasm	hydrolase activity										GGTTTCTGTCCCCGGGGCATT	0.587000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	52					0	0	0.00010058	0	0
SMC4	10051	broad.mit.edu	37	3	160122245	160122245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:160122245C>T	ENST00000357388.3	+	5	1091	c.640C>T	c.(640-642)Cga>Tga	p.R214*	SMC4_ENST00000344722.5_Nonsense_Mutation_p.R214*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.R214*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.R214*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.R189*|SMC4_ENST00000470240.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	214					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.R214*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAATCTTCTTCGAAGCCATGG	0.313000													7	40					0	0	8.12818e-05	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093675	69093675	+	Missense_Mutation	SNP	C	C	T	rs140417405		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:69093675C>T	ENST00000332644.5	-	10	1366	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	402	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGAAGTCACTCGAGTATAGAC	0.398000													5	25					0	0	3.59834e-05	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348853	30348853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:30348853G>A	ENST00000327564.7	+	1	830	c.769G>A	c.(769-771)Gac>Aac	p.D257N	LRRC37B_ENST00000543378.2_Missense_Mutation_p.D148N|LRRC37B_ENST00000341671.7_Missense_Mutation_p.D230N|LRRC37B_ENST00000394713.3_Missense_Mutation_p.D230N|LRRC37B_ENST00000584368.1_Missense_Mutation_p.D242N			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	230						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTGAGTATGGACACACTGTA	0.498000													32	65					0	0	7.24521e-05	0	0
BMX	660	broad.mit.edu	37	X	15554480	15554480	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:15554480G>A	ENST00000357607.2	+	13	1340	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	BMX_ENST00000342014.6_Missense_Mutation_p.M384I|BMX_ENST00000348343.6_Missense_Mutation_p.M384I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	384	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTGCAGGCATGATCACACGGC	0.453000													19	40					0	0	0.000132079	0	0
SPEF2	79925	broad.mit.edu	37	5	35806995	35806995	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:35806995G>A	ENST00000440995.2	+	35	5182	c.5182G>A	c.(5182-5184)Gaa>Aaa	p.E1728K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1733K|SPEF2_ENST00000303129.4_Missense_Mutation_p.E530K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1733					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGGGGAAGTGAAGCACAGGA	0.393000													9	19					0	0	3.86212e-05	0	0
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAAATCACTGCGCAAGTTGTT	0.493000													90	180					0	0	0.000147903	0	0
CD1B	910	broad.mit.edu	37	1	158299825	158299825	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:158299825G>T	ENST00000368168.3	-	3	531	c.424C>A	c.(424-426)Ctg>Atg	p.L142M		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	142					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTGACACTCAGGAAATCCAAT	0.488000													7	108					0.000274275	0.00730857	0.000274275	1	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													4	64					0	0	3.59834e-05	0	0
ADCY4	196883	broad.mit.edu	37	14	24799092	24799092	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:24799092G>A	ENST00000310677.4	-	9	1304	c.1191C>T	c.(1189-1191)aaC>aaT	p.N397N	ADCY4_ENST00000554068.2_Silent_p.N397N|ADCY4_ENST00000418030.2_Silent_p.N397N|ADCY4_ENST00000396747.3_Silent_p.N90N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	397					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTCCATGTGGTTAGCCAGTG	0.582000													16	24					0	0	0.000132079	0	0
HNMT	3176	broad.mit.edu	37	2	138771544	138771544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:138771544G>A	ENST00000280097.3	+	6	905	c.723G>A	c.(721-723)tgG>tgA	p.W241*	HNMT_ENST00000410115.1_Nonsense_Mutation_p.W241*|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	241					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ACCTGCTTTGGGATTTTTTGA	0.423000													13	24					0	0	9.7654e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9071877	9071877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9071877G>A	ENST00000397910.4	-	3	15772	c.15569C>T	c.(15568-15570)cCt>cTt	p.P5190L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	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						TCTCAGTCTAGGAGTCAAGAA	0.483000													42	86					0	0	0.000437636	0	0
SAMD12	401474	broad.mit.edu	37	8	119391765	119391765	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:119391765C>T	ENST00000314727.4	-	4	633	c.497G>A	c.(496-498)gGg>gAg	p.G166E	SAMD12_ENST00000527515.1_Intron|SAMD12_ENST00000409003.4_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	166										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCTAATCTCCCCATCCATCCA	0.413000													11	11					0	0	0.00010058	0	0
TERT	7015	broad.mit.edu	37	5	1278880	1278880	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:1278880G>C	ENST00000310581.5	-	6	2219	c.2162C>G	c.(2161-2163)cCc>cGc	p.P721R	TERT_ENST00000334602.6_Missense_Mutation_p.P721R|TERT_ENST00000508104.2_Missense_Mutation_p.P721R|TERT_ENST00000296820.5_Missense_Mutation_p.P721R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	721	Reverse transcriptase.		P -> R (in a family with autosomal recessive DKC; no effect on telomerase catalytic activity and little effect on binding to TERC).		anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGTCCTGGGGGATGGTGTC	0.622000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	67					0	0	1.23904e-05	0	0
CXCR4	7852	broad.mit.edu	37	2	136873472	136873472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:136873472G>A	ENST00000409817.1	-	1	341	c.38C>T	c.(37-39)tCa>tTa	p.S13L	CXCR4_ENST00000241393.3_Missense_Mutation_p.S9L|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	9	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GTAGTTATCTGAAGTGTATAT	0.378000													12	38					0	0	0.00010058	0	0
LILRA4	23547	broad.mit.edu	37	19	54849719	54849719	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:54849719C>T	ENST00000291759.4	-	3	359	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	101	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGCAGGGCTCTGATAGTAAC	0.567000													19	34					0	0	0.000132079	0	0
PLIN4	729359	broad.mit.edu	37	19	4510880	4510880	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:4510880G>A	ENST00000301286.3	-	3	3049	c.3050C>T	c.(3049-3051)tCc>tTc	p.S1017F		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1017						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAGCCCAGCGGACACTGCGTC	0.642000													19	25					0	0	9.7654e-05	0	0
SPON1	10418	broad.mit.edu	37	11	14277214	14277214	+	RNA	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:14277214C>T	ENST00000310358.7	+	0	1649							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCCACCATTCCCCAGGAGAA	0.473000													26	55					0	0	0.000147802	0	0
CA9	768	broad.mit.edu	37	9	35674227	35674227	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:35674227G>A	ENST00000378357.4	+	1	375	c.271G>A	c.(271-273)Gga>Aga	p.G91R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	91	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATCTACCTGGAGAGGAGGA	0.537000													9	7					0	0	0.000274275	0	0
TGS1	96764	broad.mit.edu	37	8	56698986	56698986	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:56698986A>G	ENST00000260129.5	+	4	1006	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	177					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CAAAAAAGATACTGAGACAGA	0.343000													13	28					0	0	0.000151284	0	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:39620561C>T	ENST00000225899.3	-	4	946	c.843G>A	c.(841-843)agG>agA	p.R281R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000													7	17					0	0	8.12818e-05	0	0
CR1	1378	broad.mit.edu	37	1	207741289	207741289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:207741289C>T	ENST00000367049.4	+	25	4073	c.4073C>T	c.(4072-4074)aCg>aTg	p.T1358M	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.T908M|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.T908M|CR1_ENST00000367053.1_Missense_Mutation_p.T908M	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	908	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACAGAGGGACGAGCTTCGAC	0.537000													14	32					0	0	0.000219431	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043341	51043341	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:51043341G>C	ENST00000399908.2	+	3	1532	c.816G>C	c.(814-816)gaG>gaC	p.E272D	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E243D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E272D|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E158D|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E537D|MAPK8IP2_ENST00000442429.2_Intron	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	538	JNK-binding domain (JBD).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCGAAGAGGACAGCGGCG	0.701000													13	20					0	0	7.07596e-05	0	0
ARF3	377	broad.mit.edu	37	12	49334741	49334741	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:49334741G>A	ENST00000256682.4	-	2	472	c.138C>T	c.(136-138)atC>atT	p.I46I	ARF3_ENST00000447318.2_Silent_p.I46I|ARF3_ENST00000398092.4_Silent_p.I46I|ARF3_ENST00000541959.1_Silent_p.I46I	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	46					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						CAATGGTAGGGATGGTGGTGA	0.577000													23	36					0	0	0.000375601	0	0
CTSA	5476	broad.mit.edu	37	20	44520573	44520573	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:44520573G>A	ENST00000372484.3	+	3	549	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CTSA_ENST00000372459.2_Silent_p.K71K|CTSA_ENST00000354880.5_Silent_p.K89K|CTSA_ENST00000191018.5_Silent_p.K71K	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	71					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGTCCCAGAAGGATCCCGAGA	0.652000											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	19					0	0	0.000229342	0	0
INVS	27130	broad.mit.edu	37	9	103014720	103014720	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:103014720G>A	ENST00000262457.2	+	9	1419	c.1234_splice	c.e9+1	p.G412_splice	INVS_ENST00000541287.1_Splice_Site_p.G316_splice|INVS_ENST00000262456.2_Splice_Site_p.G412_splice	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	412					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ACTCATTAAAGGTGGGCTAAT	0.383000													6	10					0	0	3.59834e-05	0	0
GPR141	353345	broad.mit.edu	37	7	37780115	37780115	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:37780115C>T	ENST00000447769.1	+	4	409	c.120C>T	c.(118-120)ttC>ttT	p.F40F	GPR141_ENST00000334425.1_Silent_p.F40F|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	40						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATTCTTTTCCTCCTGGTGA	0.498000													10	17					0	0	2.17888e-05	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791183	91791183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:91791183C>T	ENST00000389857.6	-	12	1368	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	428					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGGCAGATTCGTTCATGCTC	0.572000													6	36					0	0	3.59834e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54914531	54914531	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:54914531C>T	ENST00000545554.1	+	30	6113	c.6113C>T	c.(6112-6114)tCc>tTc	p.S2038F	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.S2038F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S2036F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2038					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGGTCGTTCCTCCAAAGAT	0.403000													6	20					0	0	3.59834e-05	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.I740I|LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000371060.3_Silent_p.I740I|LEPR_ENST00000344610.8_Silent_p.I740I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000													20	18					0	0	0.000229342	0	0
FAT3	120114	broad.mit.edu	37	11	92620171	92620171	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:92620171G>A	ENST00000298047.6	+	24	12960	c.12943G>A	c.(12943-12945)Ggg>Agg	p.G4315R	FAT3_ENST00000409404.2_Missense_Mutation_p.G4315R|FAT3_ENST00000525166.1_Missense_Mutation_p.G4165R|FAT3_ENST00000533797.1_Missense_Mutation_p.G650R|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGACAAAGGGGTTGATGA	0.488000										TCGA Ovarian(4;0.039)			41	49					0	0	0.000147903	0	0
NEU2	4759	broad.mit.edu	37	2	233899575	233899575	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:233899575C>T	ENST00000233840.3	+	2	951	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	317							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACCTCCAGCCCCTGAGGCCT	0.677000													18	15					0	0	9.7654e-05	0	0
CNTN1	1272	broad.mit.edu	37	12	41463790	41463790	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:41463790G>T	ENST00000551295.2	+	24	3127	c.3010G>T	c.(3010-3012)Ggc>Tgc	p.G1004C	CNTN1_ENST00000347616.1_Missense_Mutation_p.G1004C|CNTN1_ENST00000348761.2_Missense_Mutation_p.G993C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1004					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCTTCTCGGCTTACTGCT	0.468000													4	44					8.12818e-05	0.00218887	8.12818e-05	1	0
ABCC9	10060	broad.mit.edu	37	12	22078906	22078906	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:22078906C>T	ENST00000261200.4	-	3	375	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ABCC9_ENST00000538350.1_Missense_Mutation_p.E126K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E126K|ABCC9_ENST00000345162.2_Missense_Mutation_p.E126K|ABCC9_ENST00000326684.4_Missense_Mutation_p.E126K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	126					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGATGTTTCGATATTATGA	0.383000													13	46					0	0	0.000151284	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	11					0	0	6.4e-05	0	0
GML	2765	broad.mit.edu	37	8	143922535	143922535	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:143922535G>A	ENST00000220940.1	+	3	165	c.73_splice	c.e3-1	p.W25_splice		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	25					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTCTCAGGGACTTACAGTT	0.502000													13	18					0	0	0.00010058	0	0
PLBD2	196463	broad.mit.edu	37	12	113826404	113826404	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:113826404C>T	ENST00000280800.3	+	12	1774	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	PLBD2_ENST00000545182.2_Silent_p.F549F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	581					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTGGAAGTTCGCGCCTGTCA	0.667000													8	14					0	0	3.86212e-05	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:91937813G>A	ENST00000417640.2	+	7	882	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000													5	10					0	0	1.23904e-05	0	0
TCTN2	79867	broad.mit.edu	37	12	124156062	124156062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:124156062C>T	ENST00000303372.5	+	2	219	c.91C>T	c.(91-93)Cct>Tct	p.P31S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P31S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	31					cilium assembly|smoothened signaling pathway	integral to membrane		p.P31S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGCTTTCATCCCTCCTTTTAT	0.617000													8	22					0	0	3.86212e-05	0	0
OR10A3	26496	broad.mit.edu	37	11	7960524	7960524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:7960524G>A	ENST00000360759.3	-	1	617	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTACCGGGGGAGTCTCACAG	0.433000													12	16					0	0	6.40141e-05	0	0
OR6V1	346517	broad.mit.edu	37	7	142749899	142749899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:142749899G>A	ENST00000418316.1	+	1	483	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCCTAGCCATGGTACCCACTG	0.567000													25	45					0	0	9.22233e-05	0	0
SOGA1	140710	broad.mit.edu	37	20	35444105	35444105	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:35444105G>A	ENST00000237536.4	-	5	2081	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	SOGA1_ENST00000357779.3_Silent_p.I342I|SOGA1_ENST00000456801.2_Silent_p.I183I|SOGA1_ENST00000279034.5_Silent_p.I342I	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	342										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGAGCTCGCCGATCTGCAGCT	0.647000													6	7					0	0	3.59834e-05	0	0
DYRK2	8445	broad.mit.edu	37	12	68051851	68051851	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:68051851C>T	ENST00000344096.3	+	3	1577	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	DYRK2_ENST00000393555.3_Silent_p.Y315Y	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	388	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CGCGTTTTTACCGGGCTCCAG	0.507000													14	20					0	0	0.000219431	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682809	140682809	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:140682809G>A	ENST00000239451.4	-	1	803	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	208					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGGACAGGGCCTAGTTCAT	0.428000													21	34					0	0	0.000295444	0	0
HELQ	113510	broad.mit.edu	37	4	84353404	84353404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:84353404G>A	ENST00000295488.3	-	10	2227	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	HELQ_ENST00000510985.1_Missense_Mutation_p.P622S	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	689	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCAACATAGGGAGCTCTTAAA	0.318000								Other identified genes with known or suspected DNA repair function					27	31					0	0	0.000339439	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842470	22842470	+	Silent	SNP	T	T	C	rs144252957	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:22842470T>C	ENST00000360412.2	-	4	2029	c.1254A>G	c.(1252-1254)gtA>gtG	p.V418V	ZNF280B_ENST00000406426.1_Silent_p.V418V	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AATGTGTTTCTACATCAGCAA	0.398000													5	68					0	0	3.86212e-05	0	0
DMXL2	23312	broad.mit.edu	37	15	51772772	51772772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:51772772C>T	ENST00000251076.5	-	24	6818	c.6531G>A	c.(6529-6531)atG>atA	p.M2177I	DMXL2_ENST00000449909.3_Missense_Mutation_p.M1541I|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.M2177I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2177						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTGAGTTCCATCCTTACTG	0.403000													10	21					0	0	6.40141e-05	0	0
CRISP2	7180	broad.mit.edu	37	6	49660571	49660571	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:49660571G>A	ENST00000339139.4	-	10	883	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	216						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATTCTTCAAGGAATCACAGTT	0.378000													10	21					0	0	2.17888e-05	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795561	142795561	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:142795561C>T	ENST00000370498.1	-	2	870	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	39										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCAAGCTCTGTTTGGGGG	0.403000													10	28					0	0	3.86212e-05	0	0
MEIS2	4212	broad.mit.edu	37	15	37385869	37385869	+	Silent	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:37385869G>T	ENST00000338564.5	-	7	998	c.552C>A	c.(550-552)ccC>ccA	p.P184P	MEIS2_ENST00000444725.1_Silent_p.P184P|MEIS2_ENST00000219869.9_Silent_p.P38P|MEIS2_ENST00000424352.2_Silent_p.P184P|MEIS2_ENST00000559085.1_Silent_p.P171P|MEIS2_ENST00000382766.2_Silent_p.P184P|MEIS2_ENST00000559561.1_Silent_p.P184P|MEIS2_ENST00000397620.2_Silent_p.P96P|MEIS2_ENST00000561208.1_Silent_p.P184P|MEIS2_ENST00000397624.3_Silent_p.P96P|MEIS2_ENST00000557796.2_Silent_p.P171P|MEIS2_ENST00000340545.5_Silent_p.P171P	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	184					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGAGGTCGATGGGCATTTTCC	0.483000													7	110					0.000157383	0.0042233	0.000157383	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83320109	83320109	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:83320109G>A	ENST00000262752.2	-	21	1989	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S661F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	661	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCATATGGGAAAGCAAATC	0.343000													15	36					0	0	0.000219431	0	0
ART5	116969	broad.mit.edu	37	11	3661298	3661298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:3661298G>A	ENST00000397068.3	-	2	753	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	ART5_ENST00000359918.4_Missense_Mutation_p.R121W|ART5_ENST00000397067.3_Missense_Mutation_p.R121W	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	121						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGAGCTCCCGGGAGCCTCCG	0.592000													6	48					0	0	3.59834e-05	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774551	122774551	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:122774551C>T	ENST00000194130.2	-	8	884	c.845G>A	c.(844-846)gGa>gAa	p.G282E	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	282						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAACCATGATCCAAAGTTGAG	0.448000													9	39					0	0	3.86212e-05	0	0
LYN	4067	broad.mit.edu	37	8	56912056	56912056	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:56912056C>T	ENST00000520220.2	+	12	1495	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	LYN_ENST00000519728.1_Silent_p.S428S	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	428	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGTGTGGTCCTTTGGAATCC	0.388000													18	31					0	0	9.7654e-05	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857193	9857193	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:9857193G>A	ENST00000396573.2	-	14	4517	c.4208C>T	c.(4207-4209)tCg>tTg	p.S1403L	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1403L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1403L|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1403					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCAAGGACGACCGAAGATA	0.512000													20	34					0	0	0.000375601	0	0
PTPN22	26191	broad.mit.edu	37	1	114380409	114380409	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:114380409G>A	ENST00000359785.5	-	13	1748	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.S538L|PTPN22_ENST00000525799.1_Missense_Mutation_p.S411L|PTPN22_ENST00000528414.1_Missense_Mutation_p.S483L|PTPN22_ENST00000538253.1_Missense_Mutation_p.S294L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	538					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCATGATGAAAAATAAGG	0.388000													50	44					0	0	0.000147903	0	0
C10orf2	56652	broad.mit.edu	37	10	102749036	102749036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:102749036C>T	ENST00000370228.1	+	1	1254	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	C10orf2_ENST00000311916.2_Missense_Mutation_p.R357C|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	357			R -> P (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCGTATTCTTCGTACCGCCCT	0.567000													9	23					0	0	0.000274275	0	0
BMP15	9210	broad.mit.edu	37	X	50658933	50658933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:50658933G>A	ENST00000252677.3	+	2	505	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	169					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TTCCTCAGAAGGAGATTCCTC	0.478000													13	28					0	0	0.00010058	0	0
CCDC87	55231	broad.mit.edu	37	11	66359836	66359836	+	Silent	SNP	G	G	A	rs17853294		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:66359836G>A	ENST00000333861.3	-	1	718	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	217			F -> L (in dbSNP:rs17853294).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592000													7	29					0	0	0.000157383	0	0
CPED1	79974	broad.mit.edu	37	7	120906284	120906284	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:120906284C>T	ENST00000310396.5	+	19	2781	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTTATAGATTCTGTTCATTGG	0.323000													13	15					0	0	0.00010058	0	0
MTMR12	54545	broad.mit.edu	37	5	32230401	32230401	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:32230401C>T	ENST00000382142.3	-	16	1897	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	MTMR12_ENST00000264934.5_Missense_Mutation_p.R466K|MTMR12_ENST00000280285.5_Missense_Mutation_p.R522K|MTMR12_ENST00000510216.1_5'UTR	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	576	Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.R576T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAAAAATCCTCTTTTGGGAGA	0.348000													70	67					0	0	0.000147903	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497957	20497957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:20497957G>A	ENST00000573854.1	+	14	1805	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R564Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R336Q|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R485Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R564Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R564Q	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	564					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCCAAGCTTCGAGACAAGGAG	0.463000													32	24					0	0	0.000159656	0	0
CDH4	1002	broad.mit.edu	37	20	60348124	60348124	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:60348124G>A	ENST00000360469.5	+	4	550	c.462G>A	c.(460-462)ccG>ccA	p.P154P	CDH4_ENST00000543233.1_Silent_p.P80P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	154					adherens junction organization|cell junction assembly		calcium ion binding	p.W155fs*46(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCTGCTGCCGTGGCCCCAGC	0.647000													17	17					0	0	0.000422831	0	0
SPAM1	6677	broad.mit.edu	37	7	123594244	123594244	+	Missense_Mutation	SNP	G	G	A	rs113752093		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:123594244G>A	ENST00000340011.5	+	3	977	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SPAM1_ENST00000460182.1_Missense_Mutation_p.G207E|SPAM1_ENST00000223028.7_Missense_Mutation_p.G207E|SPAM1_ENST00000402183.2_Missense_Mutation_p.G207E|SPAM1_ENST00000439500.1_Missense_Mutation_p.G207E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	207					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATAAAATTGGGAAAATTACTT	0.383000													7	10					0	0	8.12818e-05	0	0
ACOX3	8310	broad.mit.edu	37	4	8417561	8417561	+	Missense_Mutation	SNP	G	G	A	rs148322745		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:8417561G>A	ENST00000356406.5	-	3	387	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ACOX3_ENST00000413009.2_Missense_Mutation_p.P104S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P104S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	104					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ATCAAGGCGGGGACCTTCAGA	0.542000													21	38					0	0	0.000295444	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511763	44511763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:44511763C>T	ENST00000372523.1	+	2	627	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	ZSWIM1_ENST00000372520.1_Nonsense_Mutation_p.Q178*	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	178							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TAAGTTCCTCCAGGCCAAGTT	0.552000													33	32					0	0	8.91981e-05	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044096	51044096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:51044096G>A	ENST00000399908.2	+	5	1866	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G355R|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G384R|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G270R|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G649R|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G372R	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	650					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGCGCACGGGGGAGCGCGG	0.657000													5	30					0	0	1.23904e-05	0	0
OR2G6	391211	broad.mit.edu	37	1	248685145	248685145	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:248685145C>T	ENST00000343414.4	+	1	230	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCAACCTCTCGTGTGTGG	0.502000													12	24					0	0	6.40141e-05	0	0
WDR96	80217	broad.mit.edu	37	10	105926335	105926335	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:105926335T>C	ENST00000357060.3	-	23	3065	c.2950A>G	c.(2950-2952)Act>Gct	p.T984A	WDR96_ENST00000428666.1_Missense_Mutation_p.T985A	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	984										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAAAATCAGTACTCAGACTA	0.373000													11	38					0	0	6.40141e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126411473	126411473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:126411473C>T	ENST00000394329.3	+	17	13509	c.13496C>T	c.(13495-13497)tCt>tTt	p.S4499F	FAT4_ENST00000335110.5_Missense_Mutation_p.S2740F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4499					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGAGATCTCTCTGCCTTTG	0.607000													8	41					0	0	0.000274275	0	0
DGKZ	8525	broad.mit.edu	37	11	46392868	46392868	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:46392868C>T	ENST00000454345.1	+	8	1265	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Silent_p.F169F|DGKZ_ENST00000456247.2_Silent_p.F191F|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000421244.2_Silent_p.F192F|DGKZ_ENST00000527911.1_Silent_p.F192F|DGKZ_ENST00000343674.6_Silent_p.F208F|DGKZ_ENST00000532868.2_Silent_p.F196F|DGKZ_ENST00000395574.3_Silent_p.F158F	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	380					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTCAGGGATTCCAGCAGAAGT	0.642000													15	42					0	0	7.07596e-05	0	0
ZIC2	7546	broad.mit.edu	37	13	100635375	100635375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr13:100635375C>T	ENST00000376335.3	+	1	1350	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	353					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCAAGATCCACAAAAGGAC	0.647000													7	7					0	0	8.12818e-05	0	0
ATL1	51062	broad.mit.edu	37	14	51079995	51079995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:51079995C>T	ENST00000441560.2	+	8	1130	c.649C>T	c.(649-651)Cga>Tga	p.R217*	ATL1_ENST00000358385.6_Nonsense_Mutation_p.R217*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R217*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.R217*	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	217			R -> Q (in SPG3; alters endoplasmic reticulum morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ATTTCTTGTTCGAGACTGGAG	0.368000													5	21					0	0	8.12818e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247588393	247588393	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:247588393C>T	ENST00000366497.2	+	4	2428	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	NLRP3_ENST00000366496.2_Missense_Mutation_p.R550C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R550C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R550C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R550C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R550C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	550					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCAGGGAGTCGTTTGAAGCT	0.473000													15	20					0	0	0.000422831	0	0
CD163	9332	broad.mit.edu	37	12	7651771	7651771	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:7651771C>T	ENST00000359156.4	-	4	673	c.471G>A	c.(469-471)ttG>ttA	p.L157L	CD163_ENST00000541972.1_Silent_p.L145L|CD163_ENST00000432237.2_Silent_p.L157L|CD163_ENST00000396620.3_Silent_p.L157L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	157					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						GCCTCATTTCCAAATTGGATC	0.413000													12	72					0	0	0.000219431	0	0
TRIM29	23650	broad.mit.edu	37	11	119993696	119993696	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:119993696G>A	ENST00000341846.5	-	5	1822	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	TRIM29_ENST00000524816.3_Silent_p.T33T|TRIM29_ENST00000528870.1_5'UTR|TRIM29_ENST00000541857.1_Silent_p.T200T|TRIM29_ENST00000529044.1_Silent_p.T206T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	467					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCTCTTCATGGTGTCCGGTG	0.587000													18	18					0	0	0.000132079	0	0
DNAH5	1767	broad.mit.edu	37	5	13692245	13692245	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:13692245C>T	ENST00000265104.4	-	79	13828		c.e79-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCGTAAAGCTACAAAAAAC	0.433000									Kartagener syndrome				24	17					0	0	5.49717e-05	0	0
TTN	7273	broad.mit.edu	37	2	179499341	179499341	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:179499341A>T	ENST00000589042.1	-	230	42391	c.42167T>A	c.(42166-42168)tTt>tAt	p.F14056Y	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F4991Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F5183Y|TTN_ENST00000591111.1_Missense_Mutation_p.F12415Y|TTN_ENST00000342992.6_Missense_Mutation_p.F11488Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F5116Y|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12415	Fibronectin type-III 1.						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)			GGGCACAGCAAAGTCAAGTTC	0.448000													9	40					0	0	0.000274275	0	0
CACNA1C	775	broad.mit.edu	37	12	2797832	2797832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:2797832G>A	ENST00000399655.1	+	46	6269	c.6004G>A	c.(6004-6006)Ggc>Agc	p.G2002S	CACNA1C_ENST00000399629.1_Missense_Mutation_p.G2019S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2073S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G2010S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2037S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G2008S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G2002S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G2002S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G2021S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G2021S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G2050S|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2073S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2027S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G2002S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G2021S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G2002S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G2010S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2037S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2043S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G2002S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G2022S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2030S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2085					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACCCCCGGTGGCGGGGGCAG	0.706000													8	8					0	0	2.17888e-05	0	0
ICA1L	130026	broad.mit.edu	37	2	203693720	203693720	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:203693720C>A	ENST00000392237.2	-	3	170	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	ICA1L_ENST00000425178.1_Missense_Mutation_p.G5W|ICA1L_ENST00000358299.2_Missense_Mutation_p.G5W|ICA1L_ENST00000418208.1_Missense_Mutation_p.G5W	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	5										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTTGCCCAAAGGAATCC	0.378000													8	265					0.000274275	0.00730857	0.000274275	1	0
MUC16	94025	broad.mit.edu	37	19	9071878	9071878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9071878G>A	ENST00000397910.4	-	3	15771	c.15568C>T	c.(15568-15570)Cct>Tct	p.P5190S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	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						CTCAGTCTAGGAGTCAAGAAA	0.483000													42	88					0	0	0.000437636	0	0
UBN1	29855	broad.mit.edu	37	16	4922917	4922917	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:4922917G>A	ENST00000396658.4	+	12	2442	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	UBN1_ENST00000590769.1_Missense_Mutation_p.G580E|UBN1_ENST00000545171.1_Missense_Mutation_p.G580E|UBN1_ENST00000262376.6_Missense_Mutation_p.G580E	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	580					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CGAGGCCATGGGCACCTGACT	0.468000													13	31					0	0	0.000308642	0	0
LRIT2	340745	broad.mit.edu	37	10	85984282	85984282	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:85984282G>A	ENST00000372113.4	-	2	704	c.699C>T	c.(697-699)ggC>ggT	p.G233G	LRIT2_ENST00000538192.1_Silent_p.G233G	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	233	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGGACAGAGGGCCCTGACATA	0.532000													18	18					0	0	7.07596e-05	0	0
FATE1	89885	broad.mit.edu	37	X	150889962	150889962	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:150889962C>T	ENST00000370350.3	+	3	415	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	110						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATACGTTTCCATTATGATC	0.602000													10	13					0	0	2.17888e-05	0	0
CIITA	4261	broad.mit.edu	37	16	11012339	11012339	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:11012339C>T	ENST00000324288.8	+	16	3238	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	CIITA_ENST00000381835.5_Silent_p.L451L	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1035					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.L1035L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTACAAACTCGCCGAGGCCC	0.632000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	128					0	0	0.000279167	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70740419	70740419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:70740419G>A	ENST00000370944.4	-	11	1691	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.P425S|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	460					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCCTAAGGGAAATTCCTGG	0.383000													80	48					0	0	0.000147903	0	0
AKAP6	9472	broad.mit.edu	37	14	33014963	33014963	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:33014963C>T	ENST00000280979.4	+	4	1274	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	AKAP6_ENST00000557354.1_Silent_p.T368T|AKAP6_ENST00000557272.1_Silent_p.T368T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	368					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)		AAAATGCAACCCCCAAACGAA	0.448000													21	27					0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9086131	9086131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9086131G>A	ENST00000397910.4	-	1	5887	c.5684C>T	c.(5683-5685)tCc>tTc	p.S1895F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1895	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGTCATGGAAGTGTGAGT	0.493000													10	26					0	0	2.17888e-05	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79068669	79068669	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:79068669G>A	ENST00000388820.4	-	11	1777	c.1567C>T	c.(1567-1569)Ctc>Ttc	p.L523F	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	523	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCCCACTGAGACACCACTAC	0.622000													24	25					0	0	0.000117367	0	0
SNX31	169166	broad.mit.edu	37	8	101629886	101629886	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:101629886C>T	ENST00000311812.2	-	5	544	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	SNX31_ENST00000428383.2_Missense_Mutation_p.E33K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	132					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTTATAATTTCGATTCTAATA	0.368000													36	53					0	0	0.000191422	0	0
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9325375G>A	ENST00000308682.2	-	1	167	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTGACGGCCAGAATGATGAGC	0.557000													13	33					0	0	0.000308642	0	0
OTOGL	283310	broad.mit.edu	37	12	80623040	80623040	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:80623040C>T	ENST00000458043.2	+	7	472	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	OTOGL_ENST00000547103.1_Missense_Mutation_p.H156Y	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTTAAGGTTCATAACAGCCC	0.323000													29	51					0	0	7.24521e-05	0	0
FAM83C	128876	broad.mit.edu	37	20	33875157	33875157	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:33875157C>T	ENST00000374408.3	-	4	1521	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	475										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGGCTGGGCTCTTGGCTTC	0.652000													10	10					0	0	0.00010058	0	0
NAT2	10	broad.mit.edu	37	8	18258111	18258111	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:18258111G>A	ENST00000286479.3	+	2	705	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	NAT2_ENST00000520116.1_Missense_Mutation_p.E70K	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	200					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCGAACAATTGAAGATTTTGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				26	39					0	0	0.000184323	0	0
ELN	2006	broad.mit.edu	37	7	73449730	73449730	+	Missense_Mutation	SNP	G	G	A	rs55951999		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:73449730G>A	ENST00000252034.7	+	2	518	c.119G>A	c.(118-120)gGa>gAa	p.G40E	ELN_ENST00000429192.1_Missense_Mutation_p.G40E|ELN_ENST00000445912.1_Missense_Mutation_p.G40E|ELN_ENST00000414324.1_Missense_Mutation_p.G40E|ELN_ENST00000380553.4_Missense_Mutation_p.G40E|ELN_ENST00000380575.4_Missense_Mutation_p.G40E|ELN_ENST00000380576.5_Missense_Mutation_p.G40E|ELN_ENST00000357036.5_Missense_Mutation_p.G40E|ELN_ENST00000320399.6_Missense_Mutation_p.G40E|ELN_ENST00000380562.4_Missense_Mutation_p.G40E|ELN_ENST00000358929.4_Missense_Mutation_p.G40E|ELN_ENST00000320492.7_Missense_Mutation_p.G40E|ELN_ENST00000380584.4_Missense_Mutation_p.G40E|ELN_ENST00000458204.1_Missense_Mutation_p.G40E	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	40					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTTCCTGGAGGAGTCTTTTAT	0.488000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	19					0	0	3.86212e-05	0	0
TPH1	7166	broad.mit.edu	37	11	18062252	18062252	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:18062252G>A	ENST00000250018.2	-	1	620	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	TPH1_ENST00000341556.2_Missense_Mutation_p.L20F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	20	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAAAAATGAGACTTGCTCTT	0.323000													13	39					0	0	0.00010058	0	0
COBL	23242	broad.mit.edu	37	7	51096770	51096770	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:51096770C>T	ENST00000395542.2	-	12	2453	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	COBL_ENST00000265136.7_Missense_Mutation_p.D675N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	675										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTTGCTGTCCTTTTCATTC	0.493000													20	54					0	0	7.16444e-05	0	0
NCAPD3	23310	broad.mit.edu	37	11	134047153	134047153	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:134047153G>A	ENST00000534548.2	-	23	3046	c.2982C>T	c.(2980-2982)atC>atT	p.I994I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	994					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTGCTTCCGGATGAATGGGT	0.468000													5	26					0	0	3.59834e-05	0	0
PCCB	5096	broad.mit.edu	37	3	136002691	136002691	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:136002691G>A	ENST00000471595.1	+	6	574	c.556G>A	c.(556-558)Gca>Aca	p.A186T	PCCB_ENST00000478469.1_Missense_Mutation_p.A186T|PCCB_ENST00000482086.1_Missense_Mutation_p.A70T|PCCB_ENST00000466072.1_Missense_Mutation_p.A186T|PCCB_ENST00000490504.1_Missense_Mutation_p.A129T|PCCB_ENST00000462637.1_Missense_Mutation_p.A163T|PCCB_ENST00000469217.1_Missense_Mutation_p.A206T|PCCB_ENST00000483687.1_Missense_Mutation_p.A167T|PCCB_ENST00000468777.1_Missense_Mutation_p.A217T|PCCB_ENST00000251654.4_Missense_Mutation_p.A186T|PCCB_ENST00000474833.1_3'UTR			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	186	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GAATGTTACGGCATCCGGAGT	0.458000													8	31					0	0	0.000157383	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030389	110030389	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:110030389G>A	ENST00000369870.3	+	5	678	c.663G>A	c.(661-663)ggG>ggA	p.G221G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	221										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCCCAGTGGGACCAGGCTGC	0.572000													26	83					0	0	9.22233e-05	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875634	75875634	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:75875634C>T	ENST00000266659.3	+	2	396	c.195C>T	c.(193-195)gcC>gcT	p.A65A		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	65					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CAGCACTAGCCCAAATTGCAA	0.453000													14	54					0	0	5.01169e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	36					0	0	0.000274275	0	0
CA10	56934	broad.mit.edu	37	17	50008490	50008490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:50008490G>A	ENST00000451037.2	-	3	1079	c.139C>T	c.(139-141)Cct>Tct	p.P47S	CA10_ENST00000340813.6_Missense_Mutation_p.P53S|CA10_ENST00000442502.2_Missense_Mutation_p.P47S|CA10_ENST00000285273.4_Missense_Mutation_p.P47S|CA10_ENST00000570565.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	47					brain development			p.P47S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CAGAAAGAAGGAACTAGAAAC	0.428000													7	24					0	0	0.000157383	0	0
FAM209A	200232	broad.mit.edu	37	20	55099991	55099991	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:55099991C>T	ENST00000371328.3	+	1	450	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		AGAGCACTTTCGGATTCGGCA	0.512000													21	72					0	0	0.000229342	0	0
COL5A1	1289	broad.mit.edu	37	9	137623932	137623932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:137623932G>A	ENST00000371817.3	+	9	1762	c.1348G>A	c.(1348-1350)Ggc>Agc	p.G450S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACCTCGGGGCGAGAAAGG	0.527000													8	33					0	0	0.000157383	0	0
TTC16	158248	broad.mit.edu	37	9	130489630	130489630	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:130489630G>A	ENST00000373289.3	+	12	1730	c.1650G>A	c.(1648-1650)gcG>gcA	p.A550A	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	550							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTTTGATTGCGACCTCCGAGG	0.602000													6	12					0	0	3.59834e-05	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395206	139395206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:139395206G>A	ENST00000277541.6	-	31	5807	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1911					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGAAGTCGGAGATGACGGC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	28					0	0	8.12818e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201058478	201058478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:201058478G>A	ENST00000362061.3	-	6	1034	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	CACNA1S_ENST00000367338.3_Missense_Mutation_p.H270Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	270					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGATGCCATGGTTGGGCCCT	0.622000													8	19					0	0	0.000157383	0	0
TGM2	7052	broad.mit.edu	37	20	36758746	36758746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:36758746C>T	ENST00000361475.2	-	13	2112	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	TGM2_ENST00000536701.1_Missense_Mutation_p.E566K|TGM2_ENST00000536724.1_Missense_Mutation_p.E587K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	647					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCTTAACTTCCTCCCCTGCC	0.637000													5	10					0	0	1.23904e-05	0	0
SAMD12	401474	broad.mit.edu	37	8	119391766	119391766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:119391766C>T	ENST00000314727.4	-	4	632	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	SAMD12_ENST00000527515.1_Intron|SAMD12_ENST00000409003.4_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	166										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CTAATCTCCCCATCCATCCAC	0.418000													11	11					0	0	0.00010058	0	0
NLRP7	199713	broad.mit.edu	37	19	55450285	55450285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:55450285C>T	ENST00000588756.1	-	6	2388	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	NLRP7_ENST00000592784.1_Missense_Mutation_p.M634I|NLRP7_ENST00000328092.5_Missense_Mutation_p.M634I|NLRP7_ENST00000340844.2_Missense_Mutation_p.M634I|NLRP7_ENST00000446217.1_Missense_Mutation_p.M662I|NLRP7_ENST00000448121.2_Missense_Mutation_p.M634I|NLRP7_ENST00000590030.1_Missense_Mutation_p.M634I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	634							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCAAAATCCATGTAATTCT	0.473000													16	35					0	0	5.01169e-05	0	0
SI	6476	broad.mit.edu	37	3	164793789	164793789	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:164793789C>T	ENST00000264382.3	-	2	74	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	4					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACTAAATTTCTTTCTTGCCA	0.269000										HNSCC(35;0.089)			12	13					0	0	6.40141e-05	0	0
INTS4	92105	broad.mit.edu	37	11	77649828	77649828	+	Missense_Mutation	SNP	G	G	A	rs151018256	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:77649828G>A	ENST00000534064.1	-	10	1068	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	INTS4_ENST00000529807.1_Missense_Mutation_p.S345L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	345					snRNA processing	integrator complex	protein binding	p.S345L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AAACTCCCCCGAACTGTAAAG	0.483000													27	53					0	0	0.000227799	0	0
ABCC8	6833	broad.mit.edu	37	11	17485076	17485076	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:17485076C>T	ENST00000302539.4	-	4	613	c.488G>A	c.(487-489)gGc>gAc	p.G163D	ABCC8_ENST00000389817.3_Missense_Mutation_p.G163D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	163				G -> A (in Ref. 1; AAB02278/AAB02417/ AAB02418).	carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCGAGAAGCCGATGGCGTG	0.567000													68	147					0	0	0.000147903	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153277455	153277455	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:153277455G>A	ENST00000290722.1	-	3	396	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	115					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATGCCCAGGGAAATGTTGTT	0.537000													9	12					0	0	3.86212e-05	0	0
UNC5D	137970	broad.mit.edu	37	8	35425666	35425666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:35425666G>A	ENST00000287272.2	+	3	393	c.373G>A	c.(373-375)Gac>Aac	p.D125N	UNC5D_ENST00000420357.1_Missense_Mutation_p.D125N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D125N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D125N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D120N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	125	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGGTGGAGGACTTCCATGG	0.522000													21	49					0	0	0.000295444	0	0
TFAP2C	7022	broad.mit.edu	37	20	55204608	55204608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:55204608G>A	ENST00000201031.2	+	1	251	c.8G>A	c.(7-9)tGg>tAg	p.W3*		NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	3					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GCCATGTTGTGGAAAATAACC	0.622000													6	38					0	0	0.000274275	0	0
EPHA7	2045	broad.mit.edu	37	6	94120517	94120517	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:94120517G>A	ENST00000369303.4	-	3	718	c.534C>T	c.(532-534)tcC>tcT	p.S178S	EPHA7_ENST00000369297.1_Silent_p.S178S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	178						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S178S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCCTTTTTGGACAAAGGTC	0.418000													6	11					0	0	0.000157383	0	0
OR6N1	128372	broad.mit.edu	37	1	158735788	158735788	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:158735788G>A	ENST00000335094.2	-	1	704	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGCTGAGGGAATTCTGAGC	0.498000													23	55					0	0	9.22233e-05	0	0
VTI1A	143187	broad.mit.edu	37	10	114224329	114224329	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:114224329C>T	ENST00000393077.2	+	3	293	c.177C>T	c.(175-177)gtC>gtT	p.V59V	VTI1A_ENST00000432306.1_Silent_p.V59V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	59					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		ATTTGGAAGTCCGAGAGATAC	0.378000			T	TCF7L2	colorectal								5	4					0	0	8.12818e-05	0	0
CARD10	29775	broad.mit.edu	37	22	37891864	37891864	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:37891864C>T	ENST00000403299.1	-	15	2422	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	CARD10_ENST00000251973.5_Missense_Mutation_p.D736N|CARD10_ENST00000406271.3_Missense_Mutation_p.D450N			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	736					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TATGCCGAGTCCACCAGTCGA	0.607000													17	16					0	0	5.01169e-05	0	0
NR5A2	2494	broad.mit.edu	37	1	200014572	200014572	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:200014572G>A	ENST00000367362.3	+	4	569	c.321_splice	c.e4-1	p.G108_splice	NR5A2_ENST00000236914.3_Splice_Site_p.G62_splice|NR5A2_ENST00000544748.1_Splice_Site_p.G36_splice	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	108					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G108E(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTCTTATAGGGATTTTTTAAG	0.338000													12	18					0	0	0.00010058	0	0
DNAH5	1767	broad.mit.edu	37	5	13708438	13708438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:13708438C>T	ENST00000265104.4	-	76	13236	c.13132G>A	c.(13132-13134)Gag>Aag	p.E4378K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4378					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCAGCCTCTCTTTTACCTGC	0.483000									Kartagener syndrome				17	85					0	0	0.000175454	0	0
G6PD	2539	broad.mit.edu	37	X	153760419	153760419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:153760419G>A	ENST00000393562.2	-	12	1914	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	G6PD_ENST00000393564.2_Missense_Mutation_p.P481S|G6PD_ENST00000369620.2_Missense_Mutation_p.P527S	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	481					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAAATATAGGGGATGGGCTTG	0.622000													8	9					0	0	6.40141e-05	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434322	72434322	+	Missense_Mutation	SNP	C	C	T	rs17852391		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:72434322C>T	ENST00000373517.3	-	1	362	c.7G>A	c.(7-9)Gag>Aag	p.E3K	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	3				E -> K (in Ref. 6; AAH26325).	nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCTCTGACTCGGCCATTTTT	0.527000													24	58					0	0	0.000117367	0	0
TLR4	7099	broad.mit.edu	37	9	120476607	120476607	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:120476607T>C	ENST00000355622.6	+	3	2302	c.2201T>C	c.(2200-2202)aTt>aCt	p.I734T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.I694T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	734	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CGAAAGGTGATTGTTGTGGTG	0.488000													5	22					0	0	1.23904e-05	0	0
MPP4	58538	broad.mit.edu	37	2	202519625	202519625	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:202519625C>T	ENST00000409474.3	-	18	1523	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	MPP4_ENST00000428900.2_Missense_Mutation_p.G415E|MPP4_ENST00000447335.2_Missense_Mutation_p.G432E|MPP4_ENST00000315506.7_Missense_Mutation_p.G395E|MPP4_ENST00000409143.1_Missense_Mutation_p.G381E|MPP4_ENST00000396886.3_Missense_Mutation_p.G364E|MPP4_ENST00000359962.5_Missense_Mutation_p.G439E	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	439	Guanylate kinase-like.					cytoplasm	protein binding	p.G439K(2)|p.G439E(2)		kidney(1)|lung(11)	12						CTCATTTACTCCAACACCAGA	0.353000													5	8					0	0	3.59834e-05	0	0
DDX20	11218	broad.mit.edu	37	1	112308795	112308795	+	Silent	SNP	C	C	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:112308795C>A	ENST00000475700.1	+	3	2931	c.573C>A	c.(571-573)atC>atA	p.I191I	DDX20_ENST00000369702.4_Silent_p.I583I			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	583	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTTAAAATCCATCAGCCAT	0.428000													17	47					6.33239e-15	1.74852e-13	0.000175454	1	0
IGHD	3495	broad.mit.edu	37	14	106307002	106307002	+	RNA	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:106307002G>A	ENST00000390556.2	-	0	825																											CAGGTTCAGGGAAAGCTTGAC	0.687000													3	3					0	0	6.4e-05	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811903	100811903	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:100811903C>T	ENST00000323346.5	+	11	1707	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.P415L	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	465					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGGTCTGTCCCCTCATTGTC	0.493000													8	49					0	0	0.000274275	0	0
ATP4A	495	broad.mit.edu	37	19	36047894	36047894	+	Missense_Mutation	SNP	G	G	A	rs138327542		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:36047894G>A	ENST00000262623.3	-	12	1818	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	597					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TACAAGTCCCGCAAAGCAGAG	0.587000													14	24					0	0	0.000308642	0	0
ZNF670	93474	broad.mit.edu	37	1	247201303	247201303	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:247201303G>A	ENST00000366503.2	-	4	776	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343000													12	35					0	0	6.40141e-05	0	0
LARP1	23367	broad.mit.edu	37	5	154181828	154181828	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:154181828G>C	ENST00000336314.4	+	11	1771	c.1747G>C	c.(1747-1749)Gac>Cac	p.D583H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	660							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGGGGGGACCGCACAGG	0.547000													12	20					0	0	0.000422831	0	0
ZHX1	11244	broad.mit.edu	37	8	124268124	124268124	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:124268124G>A	ENST00000395571.3	-	3	680	c.63C>T	c.(61-63)gaC>gaT	p.D21D	ZHX1_ENST00000297857.2_Silent_p.D21D|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.D21D|ZHX1_ENST00000522595.1_5'UTR	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	21					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAACTCAAGGTCTGGATCTT	0.428000													33	64					0	0	0.000409698	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616254	121616254	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:121616254C>T	ENST00000489711.1	+	3	601	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC15A2_ENST00000295605.2_Silent_p.F71F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	71					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCCTGTATTTCCTGTATTTCC	0.418000													21	66					0	0	0.000375601	0	0
C5orf49	134121	broad.mit.edu	37	5	7832061	7832061	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:7832061C>T	ENST00000399810.2	-	3	814	c.346G>A	c.(346-348)Gac>Aac	p.D116N	C5orf49_ENST00000509627.1_Missense_Mutation_p.D114N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	116										large_intestine(3)|lung(5)|skin(1)	9						CGGCCAAAGTCCCGGTTTAGG	0.547000													9	26					0	0	2.17888e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40944528	40944528	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:40944528G>A	ENST00000373198.3	-	12	2209	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	PTPRT_ENST00000373190.1_Silent_p.L658L|PTPRT_ENST00000373193.3_Silent_p.L658L|PTPRT_ENST00000373201.1_Silent_p.L658L|PTPRT_ENST00000356100.2_Silent_p.L658L|PTPRT_ENST00000373184.1_Silent_p.L658L|PTPRT_ENST00000373187.1_Silent_p.L658L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	658	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGAGAATCGAGGCTGGAGG	0.517000													16	52					0	0	7.07596e-05	0	0
GALNT15	117248	broad.mit.edu	37	3	16216760	16216760	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:16216760C>T	ENST00000339732.5	+	1	605	c.102C>T	c.(100-102)caC>caT	p.H34H	GALNT15_ENST00000437509.1_Silent_p.H34H	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CGATGTTGCACCCTCCCCACC	0.597000													15	24					0	0	0.000422831	0	0
DNAH9	1770	broad.mit.edu	37	17	11865375	11865375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:11865375G>A	ENST00000262442.3	+	68	13103	c.13035G>A	c.(13033-13035)tgG>tgA	p.W4345*	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.W4269*|DNAH9_ENST00000396001.2_Nonsense_Mutation_p.W657*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4345					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACTGTGTGGCTGACAGGCT	0.572000													14	33					0	0	0.000151284	0	0
CLCN5	1184	broad.mit.edu	37	X	49854958	49854958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:49854958G>A	ENST00000376088.3	+	13	2571	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	CLCN5_ENST00000376108.3_Missense_Mutation_p.E574K|CLCN5_ENST00000307367.2_Missense_Mutation_p.E574K|CLCN5_ENST00000376091.3_Missense_Mutation_p.E644K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	574	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGAAGCCAAAGAAGAGTTTGC	0.498000													7	19					0	0	8.12818e-05	0	0
TTC24	164118	broad.mit.edu	37	1	156552866	156552866	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:156552866A>T	ENST00000368236.3	+	4	979	c.943A>T	c.(943-945)Agc>Tgc	p.S315C	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.S315C	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	315							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGGCCGGAGCTTTGGCAG	0.657000													12	36					0	0	0.000151284	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807754	15807754	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:15807754G>A	ENST00000550308.1	+	13	1814	c.1434G>A	c.(1432-1434)atG>atA	p.M478I	CYP4F12_ENST00000324632.9_Missense_Mutation_p.M478I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGGCGGAGATGAAAGTGGTCC	0.637000													9	21					0	0	0.000274275	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182918	6182918	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:6182918A>G	ENST00000588304.1	+	9	1359	c.913A>G	c.(913-915)Aag>Gag	p.K305E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.K355E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.K168E|ACSBG2_ENST00000586696.1_Missense_Mutation_p.K355E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.K355E			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	355					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTGGCTTCAAGGTCAACTC	0.498000													16	34					0	0	0.000132079	0	0
PIPSL	266971	broad.mit.edu	37	10	95721207	95721207	+	RNA	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:95721207C>T	ENST00000480546.1	-	0	90					NR_002319.2																						ACCGCGGGATCAACGGAGAAA	0.592000													15	11					0	0	0.000219431	0	0
FBXO24	26261	broad.mit.edu	37	7	100184267	100184267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:100184267C>T	ENST00000241071.6	+	1	341	c.19C>T	c.(19-21)Cct>Tct	p.P7S	FBXO24_ENST00000360609.2_Missense_Mutation_p.P7S|FBXO24_ENST00000465843.1_Missense_Mutation_p.P7S|FBXO24_ENST00000498195.1_Intron	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	7						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAGGCGGTCCCTTTGCTAAG	0.577000													6	25					0	0	8.12818e-05	0	0
FCHO1	23149	broad.mit.edu	37	19	17893860	17893860	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:17893860A>G	ENST00000594202.1	+	24	2251	c.1972A>G	c.(1972-1974)Acc>Gcc	p.T658A	FCHO1_ENST00000596951.1_Missense_Mutation_p.T658A|FCHO1_ENST00000539407.1_Missense_Mutation_p.T658A|FCHO1_ENST00000597512.1_Missense_Mutation_p.T665A|FCHO1_ENST00000389133.4_Missense_Mutation_p.T658A|FCHO1_ENST00000595033.1_Missense_Mutation_p.T608A|FCHO1_ENST00000252771.7_Missense_Mutation_p.T658A|FCHO1_ENST00000596536.1_Missense_Mutation_p.T658A|FCHO1_ENST00000600676.1_Missense_Mutation_p.T658A	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	658										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCTGACCATGACCTTCCCTGC	0.607000													3	18					0	0	6.4e-05	0	0
ATP2C1	27032	broad.mit.edu	37	3	130716571	130716571	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:130716571G>T	ENST00000510168.1	+	25	2915	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	ATP2C1_ENST00000507488.2_Missense_Mutation_p.G773W|ATP2C1_ENST00000508532.1_Missense_Mutation_p.G789W|ATP2C1_ENST00000393221.4_Missense_Mutation_p.G823W|ATP2C1_ENST00000504948.1_Missense_Mutation_p.G773W|ATP2C1_ENST00000328560.8_Missense_Mutation_p.G789W|ATP2C1_ENST00000505330.1_Missense_Mutation_p.G773W|ATP2C1_ENST00000504381.1_Missense_Mutation_p.G734W|ATP2C1_ENST00000513801.1_Missense_Mutation_p.G773W|ATP2C1_ENST00000533801.2_Missense_Mutation_p.G784W|ATP2C1_ENST00000428331.2_Missense_Mutation_p.G789W|ATP2C1_ENST00000422190.2_Missense_Mutation_p.G789W|ATP2C1_ENST00000359644.3_Missense_Mutation_p.G789W			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	789			G -> R (in HDD; unstable protein).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CATTGTTTGTGGGACTTTGTT	0.343000									Hailey-Hailey disease				14	71					9.16793e-09	2.50426e-07	5.01169e-05	1	0
LRRN1	57633	broad.mit.edu	37	3	3887120	3887120	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:3887120G>A	ENST00000319331.3	+	2	1556	c.795G>A	c.(793-795)ttG>ttA	p.L265L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	265						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCCAAATTTGAAATTCTTAG	0.398000													14	49					0	0	0.000151284	0	0
DAGLA	747	broad.mit.edu	37	11	61508748	61508748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:61508748C>T	ENST00000257215.5	+	19	2214	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	700					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGCCACTCCCCACGGGGCC	0.657000													9	17					0	0	3.86212e-05	0	0
LARP1	23367	broad.mit.edu	37	5	154181827	154181827	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:154181827G>A	ENST00000336314.4	+	11	1770	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCCAGGGGGGGACCGCACAG	0.552000													13	20					0	0	0.000422831	0	0
TDRD9	122402	broad.mit.edu	37	14	104492471	104492471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:104492471C>T	ENST00000409874.4	+	27	3067	c.3019C>T	c.(3019-3021)Cag>Tag	p.Q1007*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.Q1007*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1007					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTTCCTTTCCAGGTAAGGTA	0.433000													10	45					0	0	3.86212e-05	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766074	14766074	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:14766074C>T	ENST00000261170.3	-	27	3335	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1067					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCTCCTTGTCTGTGGTATTC	0.438000													5	43					0	0	3.59834e-05	0	0
CARD11	84433	broad.mit.edu	37	7	2954975	2954975	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:2954975C>T	ENST00000396946.4	-	21	3138	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	912					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGTTCATCCGCTTATACTT	0.597000			Mis		DLBCL								17	13					0	0	7.07596e-05	0	0
OR1G1	8390	broad.mit.edu	37	17	3030838	3030838	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:3030838C>T	ENST00000328890.2	-	1	37	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGATTTTTCCCCTCCATTTG	0.463000													11	8					0	0	3.86212e-05	0	0
HMCN1	83872	broad.mit.edu	37	1	186158678	186158678	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:186158678G>A	ENST00000271588.4	+	107	16805	c.16576G>A	c.(16576-16578)Gaa>Aaa	p.E5526K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5409K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5526					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGATTTGGAATGTGCCTT	0.438000													15	19					0	0	0.000175454	0	0
SYPL2	284612	broad.mit.edu	37	1	110019425	110019425	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:110019425C>T	ENST00000369872.3	+	4	498	c.282C>T	c.(280-282)ccC>ccT	p.P94P	SYPL2_ENST00000401021.3_Silent_p.P94P|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	94	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGAGATGCCCCTCTGCGATG	0.577000													49	112					0	0	0.000147903	0	0
GRID1	2894	broad.mit.edu	37	10	87966247	87966247	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:87966247G>A	ENST00000327946.7	-	3	479	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	132						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)	TCGGGGCTGGGGTTCAGGTGG	0.632000										Multiple Myeloma(13;0.14)			9	11					0	0	2.17888e-05	0	0
RIMS2	9699	broad.mit.edu	37	8	105001569	105001569	+	Silent	SNP	T	T	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:105001569T>G	ENST00000507740.1	+	14	2576	c.2340T>G	c.(2338-2340)acT>acG	p.T780T	RIMS2_ENST00000436393.2_Silent_p.T766T|RIMS2_ENST00000262231.10_Silent_p.T827T|RIMS2_ENST00000406091.3_Silent_p.T988T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1050					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGACCCGCACTATGACCGGAC	0.383000										HNSCC(12;0.0054)			15	53					0	0	0.000422831	0	0
RPE65	6121	broad.mit.edu	37	1	68914352	68914352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:68914352C>T	ENST00000262340.5	-	2	102	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	17					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCCACAGTTTCAAACAGTTTC	0.488000													15	14					0	0	0.000422831	0	0
BAI1	575	broad.mit.edu	37	8	143570442	143570442	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:143570442G>A	ENST00000517894.1	+	15	3393	c.2499G>A	c.(2497-2499)agG>agA	p.R833R	BAI1_ENST00000323289.5_Silent_p.R833R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	833					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCTCTACAGGAACCTGGGCA	0.672000													4	8					0	0	0.00024832	0	0
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:4697661G>A	ENST00000262960.9	-	11	1354	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	DPP9_ENST00000598800.1_Silent_p.I330I|DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000594671.1_Silent_p.I330I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632000													5	13					0	0	1.23904e-05	0	0
NR1H4	9971	broad.mit.edu	37	12	100928758	100928758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:100928758G>A	ENST00000548884.1	+	6	1218	c.677G>A	c.(676-678)gGt>gAt	p.G226D	NR1H4_ENST00000188403.7_Missense_Mutation_p.G236D|NR1H4_ENST00000392986.3_Missense_Mutation_p.G230D|NR1H4_ENST00000551379.1_Missense_Mutation_p.G240D|NR1H4_ENST00000549996.1_Missense_Mutation_p.G179D	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	240					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GACAGTGAAGGTCGTGACTTG	0.423000													5	30					0	0	3.59834e-05	0	0
SPAG17	200162	broad.mit.edu	37	1	118537072	118537072	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:118537072G>A	ENST00000336338.5	-	35	5200	c.5135C>T	c.(5134-5136)cCt>cTt	p.P1712L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1712						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCGGAGATTAGGAGGGACAAT	0.413000													12	21					0	0	0.00010058	0	0
CR1	1378	broad.mit.edu	37	1	207741369	207741369	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:207741369C>T	ENST00000367049.4	+	25	4153	c.4153C>T	c.(4153-4155)Cct>Tct	p.P1385S	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.P935S|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.P935S|CR1_ENST00000367053.1_Missense_Mutation_p.P935S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	935	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGCCCTGCCCCTCGCTGTGG	0.537000													8	21					0	0	3.86212e-05	0	0
GEM	2669	broad.mit.edu	37	8	95272502	95272502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95272502C>T	ENST00000297596.2	-	2	494	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GEM_ENST00000396194.2_Missense_Mutation_p.R77Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	77					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAGCACCACTCGGTAGTAGGT	0.592000													8	16					0	0	0.000274275	0	0
CEP72	55722	broad.mit.edu	37	5	637700	637700	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:637700C>T	ENST00000264935.5	+	7	1063	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	325					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTGCCTGGTCCCCTGCCAGC	0.562000													10	9					0	0	3.86212e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38616931	38616931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:38616931G>A	ENST00000413689.1	-	20	3716	c.3523C>T	c.(3523-3525)Cgc>Tgc	p.R1175C	SCN5A_ENST00000333535.4_Missense_Mutation_p.R1175C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1174C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1174C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1175C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1175C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1121C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1174C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1121C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1121C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGGACAGCGCCGGACACAG	0.602000													4	3					0	0	1.23904e-05	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612388	54612388	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:54612388G>A	ENST00000302287.3	+	2	559	c.153G>A	c.(151-153)caG>caA	p.Q51Q	VSTM2A_ENST00000402026.2_Silent_p.Q50Q|VSTM2A_ENST00000402613.3_Silent_p.Q51Q|VSTM2A_ENST00000407838.3_Silent_p.Q51Q|VSTM2A_ENST00000404951.1_Silent_p.Q51Q			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	51	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCGCCTTCCAGAGCGGCTCCG	0.642000													10	21					0	0	0.00010058	0	0
SYT9	143425	broad.mit.edu	37	11	7488027	7488027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:7488027G>A	ENST00000318881.6	+	7	1709	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	491						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGCAGAAACGATGACCATGG	0.363000													8	38					0	0	2.17888e-05	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469424	98469424	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:98469424C>T	ENST00000339364.5	-	2	449	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	110						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGTCTAGGAACTCCTCGCTGT	0.597000													22	13					0	0	0.000229342	0	0
UEVLD	55293	broad.mit.edu	37	11	18591901	18591901	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:18591901G>A	ENST00000396197.3	-	4	245	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	UEVLD_ENST00000535484.1_Missense_Mutation_p.R35C|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.R51C|UEVLD_ENST00000300038.7_Missense_Mutation_p.R73C|UEVLD_ENST00000543987.1_Missense_Mutation_p.R73C|UEVLD_ENST00000379387.4_Missense_Mutation_p.R51C	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	73	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ATCCAGAAACGAATTGGTATG	0.363000													8	14					0	0	0.000157383	0	0
DECR1	1666	broad.mit.edu	37	8	91029411	91029411	+	Silent	SNP	C	C	T	rs72124473		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:91029411C>T	ENST00000522161.1	+	4	785	c.102C>T	c.(100-102)ttC>ttT	p.F34F	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Silent_p.F43F			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	43					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AATCTAAATTCTTTTCACCTC	0.333000													16	41					0	0	7.07596e-05	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													28	92					0	0	0.000227799	0	0
REG1P	5969	broad.mit.edu	37	2	79364133	79364133	+	RNA	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:79364133G>A	ENST00000444841.1	-	0	285																											GGATGTAACAGAAAAAGGACA	0.463000													4	3					0	0	0.00024832	0	0
DEAF1	10522	broad.mit.edu	37	11	688032	688032	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:688032C>T	ENST00000382409.3	-	4	1027	c.543G>A	c.(541-543)ctG>ctA	p.L181L	DEAF1_ENST00000338675.6_Silent_p.L181L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	181					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCCGGGAGCCAGAGGGGTTG	0.557000													5	24					0	0	3.59834e-05	0	0
CEP135	9662	broad.mit.edu	37	4	56823443	56823443	+	Missense_Mutation	SNP	C	C	T	rs149954755		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:56823443C>T	ENST00000257287.4	+	5	651	c.527C>T	c.(526-528)cCg>cTg	p.P176L	CEP135_ENST00000422247.2_Missense_Mutation_p.P176L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	176					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGATGAACCGGTTCCTCCC	0.408000													10	55					0	0	6.40141e-05	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696147	54696147	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:54696147C>T	ENST00000230640.5	+	21	2633	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	SKIV2L2_ENST00000545714.1_Silent_p.V692V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	793					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGAAAAAAGTCATTCAGAAAG	0.373000													8	25					0	0	0.000274275	0	0
CCPG1	9236	broad.mit.edu	37	15	55652369	55652369	+	Silent	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:55652369T>C	ENST00000310958.6	-	8	1900	c.1602A>G	c.(1600-1602)agA>agG	p.R534R	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Silent_p.R534R|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Silent_p.R534R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	534					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTTTAAAGTGTCTGAAAGTGG	0.333000													38	89					0	0	0.000109025	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943102	12943102	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:12943102G>A	ENST00000235349.5	-	2	184	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGGGGGAAAAGTTCTG	0.627000													37	29					0	0	0.000191422	0	0
OR4N5	390437	broad.mit.edu	37	14	20612119	20612119	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:20612119C>T	ENST00000333629.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCTACTCCTTCATTGTGGTTC	0.463000													17	21					0	0	7.07596e-05	0	0
MARCH10	162333	broad.mit.edu	37	17	60799913	60799913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:60799913C>T	ENST00000544856.2	-	9	2525	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	MARCH10_ENST00000583600.1_Missense_Mutation_p.G755D|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G717D|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.G717D			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	717							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACCAGCAGGCCTTGCTTACA	0.438000													12	16					0	0	0.000308642	0	0
ITGB8	3696	broad.mit.edu	37	7	20434519	20434519	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:20434519G>A	ENST00000222573.3	+	8	1741	c.1056_splice	c.e8-1	p.D353_splice	ITGB8_ENST00000537992.1_Splice_Site_p.D218_splice	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGTTTTATAGGATCTTCTACC	0.353000													24	20					0	0	7.16444e-05	0	0
ZNF711	7552	broad.mit.edu	37	X	84510572	84510572	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:84510572C>T	ENST00000360700.4	+	4	1273	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZNF711_ENST00000395402.1_Silent_p.F107F|ZNF711_ENST00000373165.3_Silent_p.F129F|ZNF711_ENST00000276123.3_Silent_p.F129F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGCAGGTTTTCGTGGCTGACC	0.448000													29	52					0	0	0.000227799	0	0
ASPM	259266	broad.mit.edu	37	1	197112543	197112543	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:197112543G>A	ENST00000367409.4	-	3	1095	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ASPM_ENST00000294732.7_Missense_Mutation_p.S280F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	280					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAATTAAAGGAAGTTTCAGT	0.343000													15	49					0	0	0.000308642	0	0
HIPK4	147746	broad.mit.edu	37	19	40890035	40890035	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:40890035G>A	ENST00000291823.2	-	2	761	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	159	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCGGATCCGAAGTCAATCA	0.632000													19	31					0	0	0.000175454	0	0
LIFR	3977	broad.mit.edu	37	5	38485927	38485927	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:38485927C>T	ENST00000263409.4	-	17	2653	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	LIFR_ENST00000453190.2_Missense_Mutation_p.E831K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	831					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACAATTTTCCTTTGTCACC	0.468000			T	PLAG1	salivary adenoma								5	33					0	0	3.59834e-05	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359091	64359091	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:64359091G>A	ENST00000377574.1	+	1	810	c.63G>A	c.(61-63)acG>acA	p.T21T	SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Silent_p.T21T|SLC22A12_ENST00000377567.2_Silent_p.T21T|SLC22A12_ENST00000377572.1_Silent_p.T21T	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	21					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTCTCCAGACGATGGCTCTGA	0.622000													15	29					0	0	0.000422831	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608184	31608184	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:31608184G>A	ENST00000170150.3	+	12	1326	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	377						extracellular region	lipid binding	p.G377G(1)									AGCTTCAGGGGACCACGTCTG	0.602000													19	19					0	0	0.000132079	0	0
CNGA2	1260	broad.mit.edu	37	X	150912081	150912081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:150912081G>A	ENST00000329903.4	+	6	1139	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	369					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTGGGAAATGTGGGC	0.512000													26	33					0	0	0.000184323	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711340	45711340	+	Missense_Mutation	SNP	G	G	A	rs34168608	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:45711340G>A	ENST00000310806.4	-	4	1498	c.1040C>T	c.(1039-1041)cCa>cTa	p.P347L	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	347			P -> R (in dbSNP:rs34168608).		cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGAAGTCTTGGTGTTGCAAG	0.353000													12	61					0	0	0.000219431	0	0
SLC12A6	9990	broad.mit.edu	37	15	34544408	34544408	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:34544408G>A	ENST00000354181.3	-	10	1788	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC12A6_ENST00000451844.2_Silent_p.I244I|SLC12A6_ENST00000558667.1_Silent_p.I432I|SLC12A6_ENST00000560164.1_Silent_p.I244I|SLC12A6_ENST00000397707.2_Silent_p.I417I|SLC12A6_ENST00000560611.1_Silent_p.I432I|SLC12A6_ENST00000458406.2_Silent_p.I373I|SLC12A6_ENST00000558589.1_Silent_p.I423I|SLC12A6_ENST00000290209.5_Silent_p.I381I|SLC12A6_ENST00000397702.2_Silent_p.I373I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	432					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GAATGCCCTGGATTGAAGTGA	0.398000													8	18					0	0	2.17888e-05	0	0
CFAP54	144535	broad.mit.edu	37	12	97043781	97043781	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:97043781G>A	ENST00000524981.3	+	2	156	c.156G>A	c.(154-156)aaG>aaA	p.K52K				Q6ZTY8	CL063_HUMAN		26										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTAAAGAAAAGGACCGAGGAG	0.338000													12	33					0	0	0.00010058	0	0
SOX5	6660	broad.mit.edu	37	12	23893916	23893916	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:23893916A>T	ENST00000546136.1	-	4	589	c.587T>A	c.(586-588)cTg>cAg	p.L196Q	SOX5_ENST00000537393.1_Missense_Mutation_p.L174Q|SOX5_ENST00000309359.1_Missense_Mutation_p.L196Q|SOX5_ENST00000541536.1_Missense_Mutation_p.L196Q|SOX5_ENST00000451604.2_Missense_Mutation_p.L209Q|SOX5_ENST00000541847.1_Missense_Mutation_p.L199Q|SOX5_ENST00000381381.2_Missense_Mutation_p.L196Q|SOX5_ENST00000545921.1_Missense_Mutation_p.L199Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	209					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCAGCTGGTTGAT	0.468000													8	10					0	0	0.000157383	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905886	164905886	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:164905886C>T	ENST00000475390.1	-	2	3176	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	SLITRK3_ENST00000241274.3_Silent_p.K911K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	911						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						CGTGCAGTTCCTTTAATTTGG	0.537000										HNSCC(40;0.11)			19	24					0	0	7.07596e-05	0	0
RELN	5649	broad.mit.edu	37	7	103205799	103205799	+	Silent	SNP	C	C	T	rs147933593		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:103205799C>T	ENST00000428762.1	-	34	5295	c.5136G>A	c.(5134-5136)acG>acA	p.T1712T	RELN_ENST00000424685.2_Silent_p.T1712T|RELN_ENST00000343529.5_Silent_p.T1712T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1712					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGAACTTTCCGTGTAATGCA	0.468000													9	23					0	0	2.17888e-05	0	0
UPF2	26019	broad.mit.edu	37	10	11973671	11973671	+	Silent	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:11973671G>T	ENST00000356352.2	-	19	4130	c.3657C>A	c.(3655-3657)atC>atA	p.I1219I	UPF2_ENST00000357604.5_Silent_p.I1219I|UPF2_ENST00000397053.2_Silent_p.I1219I			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1219	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCCGTTCATTGATATCTAGTG	0.363000													9	316					2.17888e-05	0.000590933	2.17888e-05	1	0
DSCAML1	57453	broad.mit.edu	37	11	117310603	117310603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:117310603C>T	ENST00000321322.6	-	22	4093	c.4092G>A	c.(4090-4092)atG>atA	p.M1364I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.M1094I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1304	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAACATCTTTCATCCAAGGTG	0.567000													15	27					0	0	0.000422831	0	0
PKNOX2	63876	broad.mit.edu	37	11	125281707	125281707	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:125281707C>T	ENST00000298282.9	+	10	1153	c.882C>T	c.(880-882)gtC>gtT	p.V294V	PKNOX2_ENST00000542175.1_Silent_p.V230V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	294						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AACGAGGAGTCTTGCCCAAGC	0.517000													12	18					0	0	0.000151284	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	8					0	0	6.4e-05	0	0
SPATA2	9825	broad.mit.edu	37	20	48522829	48522829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:48522829G>A	ENST00000422556.1	-	3	1239	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SPATA2_ENST00000543716.1_Missense_Mutation_p.S160L|SPATA2_ENST00000289431.5_Missense_Mutation_p.S297L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	297					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGTCAGCAGCGAAGGGGATGG	0.662000													8	92					0	0	0.000157383	0	0
ALDOB	229	broad.mit.edu	37	9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507000													20	65					0	0	0.000295444	0	0
TENC1	23371	broad.mit.edu	37	12	53452857	53452857	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:53452857C>T	ENST00000314250.6	+	18	1722	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	TENC1_ENST00000451358.1_Silent_p.L478L|TENC1_ENST00000379902.3_Silent_p.L354L|TENC1_ENST00000546602.1_Silent_p.L478L|TENC1_ENST00000314276.3_Silent_p.L488L|TENC1_ENST00000549700.1_Silent_p.L478L|TENC1_ENST00000552570.1_Silent_p.L478L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	478					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCGGGGTCCCCTGGATGGCAG	0.662000													6	36					0	0	8.12818e-05	0	0
MIR891B	100126304	broad.mit.edu	37	X	145082635	145082635	+	RNA	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:145082635T>C	ENST00000401245.1	-	0	14					NR_030590.1																						CTCAGGTAAGTTGCAAGGATT	0.353000													28	39					0	0	0.000227799	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537068	48537068	+	Silent	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:48537068A>G	ENST00000396577.3	+	11	1634	c.1419A>G	c.(1417-1419)gaA>gaG	p.E473E	SLC12A1_ENST00000558405.1_Silent_p.E473E|SLC12A1_ENST00000380993.3_Silent_p.E473E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	473					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTCGACATGAACCATGTCAGT	0.408000													10	31					0	0	6.40141e-05	0	0
AMER3	205147	broad.mit.edu	37	2	131520228	131520228	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:131520228G>A	ENST00000423981.1	+	2	693	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	AMER3_ENST00000321420.4_Missense_Mutation_p.G195R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGACCCTGGGGGGCGGCGAAG	0.667000													10	18					0	0	2.17888e-05	0	0
CHEK2	11200	broad.mit.edu	37	22	29083937	29083937	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:29083937G>A	ENST00000544772.1	-	16	2353	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CHEK2_ENST00000403642.1_Missense_Mutation_p.A436V|CHEK2_ENST00000382578.1_Missense_Mutation_p.A436V|CHEK2_ENST00000328354.6_Missense_Mutation_p.A527V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A498V|CHEK2_ENST00000382580.2_Missense_Mutation_p.A570V|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.A527V|CHEK2_ENST00000405598.1_Missense_Mutation_p.A527V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A498V|CHEK2_ENST00000382565.1_Missense_Mutation_p.A147V	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	527	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCACCCTCGGCTTCCCCTTC	0.463000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					14	15					0	0	0.000422831	0	0
PNPLA3	80339	broad.mit.edu	37	22	44342112	44342112	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:44342112C>T	ENST00000216180.3	+	9	1469	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	PNPLA3_ENST00000423180.2_Silent_p.S428S	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	432					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCCCTGCTCCCCCAAGGGCT	0.597000											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	99					0	0	0.000147802	0	0
OR5M3	219482	broad.mit.edu	37	11	56237838	56237838	+	Silent	SNP	A	A	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:56237838A>G	ENST00000312240.2	-	1	176	c.136T>C	c.(136-138)Tta>Cta	p.L46L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	46					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)					ACCTTGATTAACACCATCATG	0.438000													5	23					0	0	8.12818e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41416118	41416118	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr21:41416118G>A	ENST00000400454.1	-	31	5747	c.5270C>T	c.(5269-5271)cCc>cTc	p.P1757L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1757					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGATGGTGGGGTGGGGTCG	0.607000													6	12					0	0	0.000157383	0	0
SORL1	6653	broad.mit.edu	37	11	121393299	121393299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:121393299C>T	ENST00000260197.7	+	10	1538	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	470					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTATAGCTTTCCCAGGGCTGT	0.577000													24	33					0	0	7.16444e-05	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635418	122635418	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:122635418G>T	ENST00000249284.2	-	1	336	c.271C>A	c.(271-273)Ctt>Att	p.L91I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	91					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAATGTAAGGATATTAAAA	0.378000													7	8					2.0095e-06	5.46942e-05	8.12818e-05	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875633	75875633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:75875633C>T	ENST00000266659.3	+	2	395	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	65					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CCAGCACTAGCCCAAATTGCA	0.458000													14	53					0	0	5.01169e-05	0	0
ADH1A	124	broad.mit.edu	37	4	100201389	100201389	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:100201389G>A	ENST00000209668.2	-	7	989	c.876C>T	c.(874-876)atC>atT	p.I292I	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	292					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTACCCCTACGATGACACTTG	0.458000													20	26					0	0	0.000175454	0	0
COL5A1	1289	broad.mit.edu	37	9	137623933	137623933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:137623933G>A	ENST00000371817.3	+	9	1763	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCTCGGGGCGAGAAAGGC	0.532000													8	33					0	0	0.000157383	0	0
DPP10	57628	broad.mit.edu	37	2	116534832	116534832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:116534832G>A	ENST00000410059.1	+	14	1750	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	DPP10_ENST00000310323.8_Missense_Mutation_p.E417K|DPP10_ENST00000393147.2_Missense_Mutation_p.E428K|DPP10_ENST00000409163.1_Missense_Mutation_p.E374K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	424					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAACTGGGAAGTGATAAA	0.378000													4	23					0	0	3.59834e-05	0	0
CYLC2	1539	broad.mit.edu	37	9	105767454	105767454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:105767454G>A	ENST00000374798.3	+	5	611	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	CYLC2_ENST00000487798.1_Missense_Mutation_p.E181K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	181	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				atctgaagatgaaaaaggagg	0.368000													9	22					0	0	0.000274275	0	0
LRFN2	57497	broad.mit.edu	37	6	40360531	40360531	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:40360531G>A	ENST00000338305.6	-	3	2063	c.1521C>T	c.(1519-1521)atC>atT	p.I507I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	507	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCAGCCCACGATGTTGGTGG	0.607000													9	7					0	0	0.000274275	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170129	32170129	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:32170129G>A	ENST00000375023.3	-	21	3617	c.3479C>T	c.(3478-3480)tCc>tTc	p.S1160F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1160	EGF-like 29.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGAGGGCAGGAGCATCGAAA	0.652000													30	32					0	0	0.000279167	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352615	16352615	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:16352615C>A	ENST00000375692.1	+	6	499	c.371C>A	c.(370-372)cCg>cAg	p.P124Q	CLCNKA_ENST00000331433.4_Missense_Mutation_p.P124Q|CLCNKA_ENST00000420078.1_Missense_Mutation_p.P124Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.P81Q|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	124					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P124Q(2)|p.P124H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTGGAATCCCGGAGCTGAAG	0.562000													6	123					8.12818e-05	0.00218887	8.12818e-05	1	0
ZNF808	388558	broad.mit.edu	37	19	53056926	53056926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:53056926C>T	ENST00000359798.4	+	5	937	c.757C>T	c.(757-759)Cat>Tat	p.H253Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCAGATACCCCATTTAGGAGA	0.393000													30	83					0	0	0.000132358	0	0
GBP6	163351	broad.mit.edu	37	1	89849796	89849796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:89849796G>A	ENST00000370456.4	+	10	1706	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	GBP6_ENST00000535065.1_Missense_Mutation_p.R408K	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	538							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATGGAGAGAGAACACCTA	0.502000													7	7					0	0	0.000157383	0	0
PER1	5187	broad.mit.edu	37	17	8050864	8050864	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:8050864G>A	ENST00000317276.4	-	12	1658	c.1421C>T	c.(1420-1422)cCg>cTg	p.P474L	PER1_ENST00000581082.1_Missense_Mutation_p.P454L|PER1_ENST00000354903.5_Missense_Mutation_p.P458L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	474					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGGGGCCGGGGGAGTGAA	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					4	14					0	0	1.23904e-05	0	0
VAX1	11023	broad.mit.edu	37	10	118896004	118896004	+	Silent	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:118896004C>T	ENST00000277905.2	-	2	652	c.408G>A	c.(406-408)caG>caA	p.Q136Q	VAX1_ENST00000369206.5_Silent_p.Q136Q	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	136						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		AGAGGTTAAGCTGCCGGGCGA	0.667000													8	10					0	0	0.000274275	0	0
SCN2A	6326	broad.mit.edu	37	2	166172203	166172203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:166172203G>A	ENST00000375437.2	+	11	1896	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	SCN2A_ENST00000375427.2_Missense_Mutation_p.G536S|SCN2A_ENST00000357398.3_Missense_Mutation_p.G536S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G536S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	536					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGAAGAAAAGGTTTCCGTTT	0.348000													23	58					0	0	7.16444e-05	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931894	109931894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:109931894G>A	ENST00000218054.4	-	9	1109	c.913C>T	c.(913-915)Cga>Tga	p.R305*	CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.R299*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.R305*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.R305*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.R226*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.R306*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.R226*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	299	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CAGGGGTATCGATTGGGGCAG	0.483000													31	37					0	0	0.000409698	0	0
FLT3	2322	broad.mit.edu	37	13	28610179	28610179	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr13:28610179C>T	ENST00000380982.4	-	11	1392	c.1309_splice	c.e11-1	p.R437_splice	FLT3_ENST00000241453.7_Splice_Site_p.R437_splice|FLT3_ENST00000537084.1_Splice_Site_p.R437_splice			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	437					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGAGGTTTCCCTATAGAAA	0.473000			"""Mis, O"""		"""AML, ALL"""								23	27					0	0	5.49717e-05	0	0
MMP16	4325	broad.mit.edu	37	8	89180031	89180031	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:89180031G>A	ENST00000286614.6	-	4	857	c.576C>T	c.(574-576)ttC>ttT	p.F192F	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	192					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCCCCATGGAAACCAGATG	0.443000													6	16					0	0	3.59834e-05	0	0
ABCB1	5243	broad.mit.edu	37	7	87160746	87160746	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:87160746G>A	ENST00000265724.3	-	22	2966	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S786F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	850	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATAGATGAAGGATATAATTAT	0.358000													12	22					0	0	6.40141e-05	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143305	41143305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:41143305C>T	ENST00000361677.1	+	5	1426	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCATGCACCCGTGGGAGCT	0.577000													15	32					0	0	0.000422831	0	0
CRHBP	1393	broad.mit.edu	37	5	76264654	76264654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:76264654G>A	ENST00000274368.4	+	7	1335	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	305					female pregnancy|learning or memory|signal transduction	soluble fraction		p.E305K(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGAGCCGTACGAGCTGGAAAA	0.453000													12	50					0	0	0.00010058	0	0
PCCB	5096	broad.mit.edu	37	3	136002690	136002690	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:136002690G>A	ENST00000471595.1	+	6	573	c.555G>A	c.(553-555)acG>acA	p.T185T	PCCB_ENST00000478469.1_Silent_p.T185T|PCCB_ENST00000482086.1_Silent_p.T69T|PCCB_ENST00000466072.1_Silent_p.T185T|PCCB_ENST00000490504.1_Silent_p.T128T|PCCB_ENST00000462637.1_Silent_p.T162T|PCCB_ENST00000469217.1_Silent_p.T205T|PCCB_ENST00000483687.1_Silent_p.T166T|PCCB_ENST00000468777.1_Silent_p.T216T|PCCB_ENST00000251654.4_Silent_p.T185T|PCCB_ENST00000474833.1_3'UTR			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	185	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGAATGTTACGGCATCCGGAG	0.458000													8	29					0	0	0.000157383	0	0
PHF14	9678	broad.mit.edu	37	7	11209072	11209072	+	Silent	SNP	T	T	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:11209072T>C	ENST00000445996.2	+	17	2466	c.1947T>C	c.(1945-1947)aaT>aaC	p.N649N	PHF14_ENST00000469407.1_3'UTR			O94880	PHF14_HUMAN	PHD finger protein 14	792							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAAGAAAAAATATATCTCAGG	0.269000													11	30					0	0	0.000151284	0	0
TRPM5	29850	broad.mit.edu	37	11	2427989	2427989	+	Silent	SNP	G	G	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:2427989G>A	ENST00000452833.1	-	21	3167	c.3159C>T	c.(3157-3159)gtC>gtT	p.V1053V	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Silent_p.V1051V|TRPM5_ENST00000533060.1_Silent_p.V1051V|TRPM5_ENST00000528453.1_Silent_p.V1051V			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1051						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCAGGTGACGACCTTCTGGT	0.617000													40	113					0	0	8.96297e-05	0	0
COL3A1	1281	broad.mit.edu	37	2	189858984	189858984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:189858984C>T	ENST00000304636.3	+	18	1389	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P407S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	407	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGAGCTCCTGGACTGAT	0.483000													16	44					0	0	5.01169e-05	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143472	61143472	+	RNA	SNP	G	G	A	rs151182247		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:61143472G>A	ENST00000475015.1	-	0	866				C20orf166-AS1_ENST00000412495.1_RNA																							TTCTGCCCACGATAGAGACCC	0.647000													6	42					0	0	3.86212e-05	0	0
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													3	3	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202136345	202136346	+	Splice_Site	INS	-	-	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:202136345_202136346insT	ENST00000358485.4	+	3	784		c.e3+1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000432109.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGATGACATGGTAAGACCTGGT	0.416										HNSCC(4;0.00038)			16	24	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137709627	137709627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:137709627delC	ENST00000371817.3	+	54	4594	c.4180delC	c.(4180-4182)ccfs	p.P1395fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1395	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTTCAGGGTCCCCCAGGCCC	0.652													2	4	---	---	---	---					
BAX	581	broad.mit.edu	37	19	49458216	49458216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:49458216delG	ENST00000293288.8	+	1	31	c.31delG	c.(31-33)ggfs	p.G12fs	BAX_ENST00000354470.3_Frame_Shift_Del_p.G12fs|BAX_ENST00000391871.3_Frame_Shift_Del_p.G11fs|BAX_ENST00000345358.7_Frame_Shift_Del_p.G12fs|BAX_ENST00000539787.1_Frame_Shift_Del_p.G12fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.G12fs	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	12					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		gcccagaggcgggggtgaggc	0.786													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	2	---	---	---	---