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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANAPC2	29882	broad.mit.edu	37	9	140079372	140079372	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:140079372G>A	uc004clr.1	-	3	1114	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	ANAPC2_uc004clq.1_Silent_p.I206I	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	347					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CACCTCGGACGATGCTGAAGA	0.677000														43			21		0	0	0.004656	0	0
KCNA6	3742	broad.mit.edu	37	12	4919899	4919899	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:4919899C>T	uc001qng.3	+	0	1558	c.692C>T	c.(691-693)tCc>tTc	p.S231F	KCNA6_uc021qtr.1_Missense_Mutation_p.S231F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GAAGACGATTCCTACACATTT	0.547000										HNSCC(72;0.22)				88			34		0	0	0.002836	0	0
SMARCA1	6594	broad.mit.edu	37	X	128602861	128602861	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:128602861G>A	uc011muk.1	-	20	2700	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.R863*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.R851*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R851*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	863	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTAAAATCTCGTTTAGTCCAG	0.338000														51			9		0	0	0.006214	0	0
SIK3	23387	broad.mit.edu	37	11	116729203	116729203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:116729203G>A	uc001ppy.3	-	19	2696	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	SIK3_uc001ppz.3_Missense_Mutation_p.S726L|SIK3_uc001pqa.3_Missense_Mutation_p.S827L|SIK3_uc001ppw.3_Missense_Mutation_p.S244L|SIK3_uc001ppx.3_Missense_Mutation_p.S265L|SIK3_uc001pqb.3_Missense_Mutation_p.S190L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	887	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGTAGTGCCGACGTGGTATA	0.592000														420			216		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219894278	219894278	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:219894278G>A	uc002vjl.1	-	10	1581	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.F488F|CCDC108_uc010zkq.1_Silent_p.F434F	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	499						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAAACTGGAAGTGGGCCG	0.597000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			16		0	0	0.006122	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054431	160054431	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:160054431C>T	uc001fuy.1	+	1	853	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	204					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGAGGCCTCCATCCGCGCC	0.677000														8			12		0	0	0.000978	0	0
DENND4C	55667	broad.mit.edu	37	9	19346844	19346844	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:19346844C>G	uc003znq.3	+	17	3302	c.3222C>G	c.(3220-3222)ttC>ttG	p.F1074L	DENND4C_uc011lnc.2_Missense_Mutation_p.F404L|DENND4C_uc011lnd.2_Missense_Mutation_p.F362L|DENND4C_uc003znr.3_Missense_Mutation_p.F362L|DENND4C_uc003zns.3_Missense_Mutation_p.F256L|DENND4C_uc003znt.3_Missense_Mutation_p.F256L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1074						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGGGCGTTTCAAGCAGCAAA	0.463000														27			39		0	0	0.006230	0	0
PRLH	51052	broad.mit.edu	37	2	238475737	238475737	+	Silent	SNP	G	A	A	rs145946342	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:238475737G>A	uc010znl.2	+	1	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_015893	NP_056977	P81277	PRRP_HUMAN	Homo sapiens prolactin releasing hormone (PRLH), mRNA.	61						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CAACCCTGGGGGACGTCCCCA	0.647000														43			24		0	0	0.003954	0	0
STS	412	broad.mit.edu	37	X	7268099	7268099	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:7268099C>T	uc004cry.4	+	9	1794	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	517					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCCACTAACTCCAGCATCCGA	0.507000									Ichthyosis					55			25		0	0	0.002780	0	0
WFS1	7466	broad.mit.edu	37	4	6288872	6288872	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6288872C>T	uc003giy.3	+	2	451	c.285C>T	c.(283-285)gcC>gcT	p.A95A	WFS1_uc003gix.3_Silent_p.A95A|WFS1_uc003giz.3_5'Flank	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	95					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding	p.R94R(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGGAGAGGGCCAAGGCCGGGG	0.592000														142			64		0	0	0.003610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:21971208C>T	uc003zpk.3	-	2	457	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	51					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				22			37		0	0	0.004289	0	0
OR1E1	8387	broad.mit.edu	37	17	3301561	3301561	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:3301561G>A	uc002fvj.1	-	0	144	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCAGTCGAATGAGGACAATGA	0.517000														43			31		0	0	0.006230	0	0
OR11H12	440153	broad.mit.edu	37	14	19378102	19378102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:19378102G>A	uc010tkp.2	+	0	509	c.509G>A	c.(508-510)tGg>tAg	p.W170*		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGATTTCTGTGGTTCCTGATC	0.488000														309			21		0	0	0.002096	0	0
GAA	2548	broad.mit.edu	37	17	78078786	78078786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:78078786C>T	uc002jxp.3	+	1	768	c.401C>T	c.(400-402)cCc>cTc	p.P134L	GAA_uc002jxo.3_Missense_Mutation_p.P134L|GAA_uc002jxq.3_Missense_Mutation_p.P134L	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	134					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCCAGCTACCCCAGCTACAAG	0.632000														19			5		0	0	0.000602	0	0
MTIF2	4528	broad.mit.edu	37	2	55467227	55467227	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:55467227T>A	uc002ryn.3	-	14	2527	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	MTIF2_uc010yox.2_Missense_Mutation_p.K266I|MTIF2_uc002ryo.3_Missense_Mutation_p.K597I	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	597					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GTAAATTATTTTGTGAAGTTT	0.383000														19			8		0	0	0.003080	0	0
C5	727	broad.mit.edu	37	9	123742513	123742514	+	Missense_Mutation	DNP	AT	GC	GC			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:123742513_123742514AT>GC	uc004bkv.3	-	27	3535_3536	c.3505_3506AT>GC	c.(3505-3507)att>GCt	p.I1169A		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1169					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGCTTTAATTAGAGCTGTG	0.416000														43			24		0	0	0.004672	0	0
AREG	374	broad.mit.edu	37	4	75312296	75312296	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:75312296A>G	uc021xpc.1	+	1	317	c.107A>G	c.(106-108)aAg>aGg	p.K36R		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	36					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			TACTCTGGGAAGCGTGAACCA	0.478000														99			55		0	0	0.003610	0	0
OR2A25	392138	broad.mit.edu	37	7	143771642	143771642	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143771642A>T	uc011ktx.2	+	0	330	c.330A>T	c.(328-330)gaA>gaT	p.E110D		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CACATACAGAATGTCTCCTCC	0.512000														62			34		0	0	0.002836	0	0
TMEM194A	23306	broad.mit.edu	37	12	57472468	57472468	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:57472468C>T	uc001smy.3	-	0	107	c.61G>A	c.(61-63)Gga>Aga	p.G21R	TMEM194A_uc001smx.3_Missense_Mutation_p.G21R|TMEM194A_uc010sra.2_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	21						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCCGACTCCCGAGCCCCAG	0.682000														54			81		0	0	0.003610	0	0
WDR93	56964	broad.mit.edu	37	15	90270552	90270552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:90270552C>T	uc002boj.3	+	8	1146	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	WDR93_uc010bnr.3_Missense_Mutation_p.P349S|WDR93_uc010upz.2_Missense_Mutation_p.P66S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	349					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGAGGAAGAGCCACTCAGGTG	0.532000														30			5		0	0	0.000602	0	0
DUSP27	92235	broad.mit.edu	37	1	167096059	167096059	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167096059G>A	uc001geb.1	+	4	1707	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	564					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGGGAGCGGGAGACAGCAGC	0.547000														33			64		0	0	0.003610	0	0
KIF14	9928	broad.mit.edu	37	1	200559251	200559251	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:200559251A>G	uc010ppk.1	-	17	3400	c.2961_splice	c.e17+1	p.L987_splice	KIF14_uc010ppj.1_Splice_Site_p.L496_splice	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	987	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGCCTTTTACCAGTTCTGC	0.383000														121			27		0	0	0.004656	0	0
FEM1A	55527	broad.mit.edu	37	19	4793180	4793180	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4793180C>T	uc002mbf.3	+	0	1453	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	438					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTCTCCTTCGCGGAACTCT	0.612000														129			64		0	0	0.003610	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475050	66475050	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:66475050G>A	uc001ojd.3	-	11	1662	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	530					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCAGCTCCAGGTTGAGGAGGA	0.622000														5			17		0	0	0.004007	0	0
NLRP5	126206	broad.mit.edu	37	19	56539572	56539572	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:56539572C>T	uc002qmj.3	+	6	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	NLRP5_uc002qmi.3_Missense_Mutation_p.P639L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCGTTCCCCTGGGGGTG	0.587000														47			51		0	0	0.003610	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713678	138713678	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:138713678G>A	uc003vum.1	-	2	542	c.530C>T	c.(529-531)gCc>gTc	p.A177V		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	177								p.A177V(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GCCATACAGGGCTTCCCCTTT	0.433000														26			11		0	0	0.008291	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64673245	64673245	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:64673245C>A	uc003dmg.3	-	0	121	c.89G>T	c.(88-90)cGc>cTc	p.R30L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R30L|ADAMTS9_uc003dmh.1_5'Flank|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R30L|ADAMTS9-AS2_uc003dml.3_Intron	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	30					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTGTCCTTGCGCACGGCCGC	0.726000														30			38		3.76604e-16	6.27868e-16	0.002522	1	0
HSD17B11	51170	broad.mit.edu	37	4	88258508	88258508	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:88258508C>T	uc003hqp.2	-	6	1056	c.823G>A	c.(823-825)Gag>Aag	p.E275K		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	275					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGAAACGCTCAGGAAGGATC	0.294000														27			14		0	0	0.003163	0	0
OR4A5	81318	broad.mit.edu	37	11	51411726	51411726	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:51411726T>A	uc001nhi.2	-	0	723	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGACTGTAAGTTTTAAGGGAG	0.418000														12			38		0	0	0.002522	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:75707705C>T	uc010oqz.1	-	7	696	c.630G>A	c.(628-630)gcG>gcA	p.A210A	SLC44A5_uc001dgt.2_Silent_p.A171A|SLC44A5_uc001dgs.2_Silent_p.A129A|SLC44A5_uc001dgr.2_Silent_p.A129A|SLC44A5_uc001dgu.3_Silent_p.A171A|SLC44A5_uc010ora.2_Silent_p.A165A|SLC44A5_uc010orb.2_Silent_p.A41A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000														46			16		0	0	0.006122	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329560	107329560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:107329560C>T	uc003vep.3	+	8	1288	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	355					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCATCATTTTCCATCGCTGTG	0.448000									Pendred syndrome					98			32		0	0	0.002445	0	0
WDR24	84219	broad.mit.edu	37	16	737679	737679	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:737679G>A	uc002ciz.1	-	1	1302	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	254										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTCAAAGGTGGAGGCGAAGGT	0.632000														23			23		0	0	0.002299	0	0
ZNF99	7652	broad.mit.edu	37	19	22940616	22940616	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:22940616G>A	uc021urt.1	-	3	2250	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.363000														31			11		0	0	0.008291	0	0
DOCK6	57572	broad.mit.edu	37	19	11352739	11352739	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:11352739G>A	uc002mqs.4	-	13	1666	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	542					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTATGGGGGGCATAGACTTC	0.612000														10			15		0	0	0.008871	0	0
TRPM5	29850	broad.mit.edu	37	11	2443397	2443397	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:2443397C>T	uc010qxl.2	-	1	281	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TRPM5_uc001lwm.4_Missense_Mutation_p.G91E|TRPM5_uc009ydn.3_Missense_Mutation_p.G91E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	91						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)		CTTCACCAGCCCCTTGCGCAG	0.701000														105			10		0	0	0.006214	0	0
OSBPL6	114880	broad.mit.edu	37	2	179170937	179170937	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179170937C>T	uc002uly.3	+	2	570	c.26C>T	c.(25-27)tCc>tTc	p.S9F	OSBPL6_uc002ulw.3_Missense_Mutation_p.S9F|OSBPL6_uc002ulx.3_Missense_Mutation_p.S9F|OSBPL6_uc010zfe.2_Missense_Mutation_p.S9F|OSBPL6_uc002ulz.3_Missense_Mutation_p.S9F	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	9					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAGGGCATTTCCCCTGCTCAT	0.453000														92			31		0	0	0.003755	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				75			238		1.38977e-115	2.32423e-115	0.003610	1	0
MAST1	22983	broad.mit.edu	37	19	12975980	12975980	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:12975980C>T	uc002mvm.3	+	13	1754	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	542	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCGAGAGTTCCTGGACAAAC	0.607000														43			17		0	0	0.001882	0	0
NRXN1	9378	broad.mit.edu	37	2	51254796	51254796	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:51254796C>T	uc021vhh.1	-	0	1537	c.616G>A	c.(616-618)Gat>Aat	p.D206N	NRXN1_uc021vhg.1_Missense_Mutation_p.D206N|NRXN1_uc021vhi.1_Missense_Mutation_p.D206N|NRXN1_uc021vhj.1_Missense_Mutation_p.D206N|NRXN1_uc021vhk.1_Missense_Mutation_p.D206N	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	206	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCGGCTCATCGTCCAGCTTC	0.697000														5			9		0	0	0.008291	0	0
CYLC1	1538	broad.mit.edu	37	X	83129238	83129238	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:83129238G>A	uc004eei.1	+	3	1543	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	CYLC1_uc004eeh.1_Missense_Mutation_p.D507N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	508					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGATATCAAGAA	0.353000														17			4		0	0	0.000602	0	0
EEF2	1938	broad.mit.edu	37	19	3982420	3982420	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3982420G>A	uc002lze.3	-	4	698	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	205						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGGATCGATCTGGAAGT	0.632000														48			41		0	0	0.002222	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231575	94231575	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:94231575C>T	uc001pew.3	+	2	736	c.597C>T	c.(595-597)taC>taT	p.Y199Y	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	199					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAACCGTTACGTCAAACCAG	0.453000														16			43		0	0	0.008740	0	0
UBR2	23304	broad.mit.edu	37	6	42625842	42625842	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:42625842C>T	uc011dur.2	+	26	3251	c.2953C>T	c.(2953-2955)Cac>Tac	p.H985Y	UBR2_uc011dus.2_Missense_Mutation_p.H630Y|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	985					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCTAGAAGTCCACAAAGACAT	0.368000														144			106		0	0	0.003610	0	0
PLVAP	83483	broad.mit.edu	37	19	17476972	17476972	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17476972A>G	uc002ngk.1	-	1	442	c.402T>C	c.(400-402)gcT>gcC	p.A134A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	134						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGATGGCAGCCATGTACC	0.552000														143			52		0	0	0.003610	0	0
PRPS2	5634	broad.mit.edu	37	X	12838868	12838868	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:12838868C>T	uc004cva.3	+	5	962	c.819C>T	c.(817-819)gtC>gtT	p.V273V	PRPS2_uc004cvb.3_Silent_p.V270V|PRPS2_uc010nec.3_Silent_p.V148V	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	270					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AGGCTGTTGTCGTCACAAACA	0.473000														38			38		0	0	0.004878	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698408	17698408	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:17698408T>A	uc002rcl.1	-	0	1299	c.1275A>T	c.(1273-1275)aaA>aaT	p.K425N	RAD51AP2_uc010exn.1_Missense_Mutation_p.K416N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	425										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTTCAGTTTTTTTCATAT	0.294000														39			18		0	0	0.004990	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650407	232650407	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:232650407G>A	uc001hvg.3	-	0	837	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	227					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.V226V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACCCAAAAGGGACCATTGCT	0.468000														155			32		0	0	0.001786	0	0
MFI2	4241	broad.mit.edu	37	3	196737653	196737653	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:196737653C>T	uc003fxk.4	-	9	1360	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	416	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTCACAGCGTCGACCTGCTCA	0.662000														42			18		0	0	0.008871	0	0
SNRPN	6638	broad.mit.edu	37	15	25442572	25442572	+	RNA	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:25442572G>A	uc001yzf.1	+	5		c.567G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CACTGGCCCCGGGAAAATGTC	0.597000									Prader-Willi syndrome					17			5		0	0	0.000602	0	0
MIR509-1	574514	broad.mit.edu	37	X	146340352	146340352	+	RNA	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:146340352G>A	uc022cfy.1	-	1		c.92C>T								Homo sapiens microRNA HSA-MIR-RG-55, complete sequence.																		CTGCAGTAGGGTACCACACAC	0.438000														93			26		0	0	0.004878	0	0
MERTK	10461	broad.mit.edu	37	2	112740542	112740542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:112740542C>T	uc002thk.1	+	7	1390	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	MERTK_uc002thl.1_Missense_Mutation_p.S247F	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	423	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TACCGGATATCCCACGTGTGG	0.463000														56			17		0	0	0.007413	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														18			3		0	0	0.004672	0	0
FCRL3	115352	broad.mit.edu	37	1	157665255	157665255	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:157665255C>T	uc001fqz.4	-	7	1567	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.G151G|FCRL3_uc001frb.3_Silent_p.G425G|FCRL3_uc001frc.1_Silent_p.G425G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	425	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGAGCTGTTCCCCAGGGTGA	0.577000														153			33		0	0	0.003755	0	0
ICA1L	130026	broad.mit.edu	37	2	203693724	203693724	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:203693724G>A	uc002uzh.1	-	2	173	c.9C>T	c.(7-9)tcC>tcT	p.S3S	ICA1L_uc002uzi.1_Silent_p.S3S|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Silent_p.S3S|ICA1L_uc002uzk.1_Silent_p.S3S	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	3										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGCCCAAAGGAATCCATGG	0.383000														308			121		0	0	0.003610	0	0
SAGE1	55511	broad.mit.edu	37	X	134992215	134992215	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:134992215G>A	uc004ezh.3	+	14	1917	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	SAGE1_uc010nry.1_Missense_Mutation_p.E553K|SAGE1_uc011mvv.2_Missense_Mutation_p.E208K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	584										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAATGTCCATGAAGAGAAGAT	0.408000														78			24		0	0	0.003954	0	0
FBN1	2200	broad.mit.edu	37	15	48782256	48782256	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48782256G>A	uc001zwx.2	-	24	3269	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	958	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTCAGGAAGCAGGTTTCCA	0.587000														23			19		0	0	0.007413	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768188	110768188	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:110768188C>T	uc003puf.3	-	2	606	c.539G>A	c.(538-540)gGa>gAa	p.G180E	SLC22A16_uc003pue.3_Missense_Mutation_p.G161E	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	180					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACCCGGCGTCCTAGCCTGAA	0.433000														45			28		0	0	0.008361	0	0
PAPL	390928	broad.mit.edu	37	19	39597640	39597640	+	Silent	SNP	C	T	T	rs142073546		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:39597640C>T	uc002oki.3	+	11	1441	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	389						extracellular region	acid phosphatase activity|metal ion binding										CCTGGAGTGCCGTGCGTGTGA	0.652000														35			6		0	0	0.001984	0	0
SETD1A	9739	broad.mit.edu	37	16	30977153	30977153	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:30977153C>T	uc002ead.1	+	7	2637	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	651	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCACCTCCTCCACCACCCCC	0.627000														52			27		0	0	0.005443	0	0
MTAP	4507	broad.mit.edu	37	9	21816739	21816739	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:21816739G>A	uc003zph.3	+	2	260	c.147G>A	c.(145-147)aaG>aaA	p.K49K	MTAP_uc003zpi.1_Silent_p.K49K|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.K66K|MTAP_uc011lnl.2_5'Flank	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	49					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.G48W(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTTTGGGGAAGATAAAAAATG	0.303000														28			90		0	0	0.003610	0	0
DSC3	1825	broad.mit.edu	37	18	28610971	28610971	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:28610971C>T	uc002kwj.4	-	2	477	c.322G>A	c.(322-324)Gag>Aag	p.E108K	DSC3_uc002kwi.4_Missense_Mutation_p.E108K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	108					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACAGTAACCTCTTTCTGTGTC	0.343000														32			23		0	0	0.008361	0	0
NANOS3	342977	broad.mit.edu	37	19	13988138	13988138	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:13988138C>T	uc002mxj.4	+	0	76	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	26					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAAGAGGGTCCTGAAACCAG	0.642000														61			86		0	0	0.003610	0	0
DGKD	8527	broad.mit.edu	37	2	234367008	234367008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:234367008C>T	uc002vui.1	+	21	2671	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	DGKD_uc002vuj.1_Nonsense_Mutation_p.R843*|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	887					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGCCGTCTCTCGAGTCATCAG	0.587000														35			14		0	0	0.002450	0	0
OVOS2	0	broad.mit.edu	37	12	31353368	31353368	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:31353368G>A	uc010sjy.1	-	2	362	c.362C>T	c.(361-363)cCt>cTt	p.P121L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTCTGTCCAGGCTTGTAGGT	0.413000														26			9		0	0	0.008291	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660587	77660588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:77660587_77660588GG>AA	uc011cbx.2	+	4	2214_2215	c.1261_1262GG>AA	c.(1261-1263)ggc>AAc	p.G421N	SHROOM3_uc011cbz.1_Missense_Mutation_p.G245N|SHROOM3_uc003hkf.1_Missense_Mutation_p.G296N|SHROOM3_uc003hkg.3_Missense_Mutation_p.G199N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	421					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAACTCTTTAGGCTCCCTGAAG	0.559000														29			12		0	0	0.004672	0	0
HIPK4	147746	broad.mit.edu	37	19	40886829	40886829	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40886829C>T	uc002onp.3	-	2	1354	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	357						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)			TGGGTGGTCTCGTGGGCACTG	0.662000														74			32		0	0	0.002836	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:31323206G>A	uc003jhe.2	+	11	2524	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(4)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000														36			10		0	0	0.006214	0	0
CDH22	64405	broad.mit.edu	37	20	44839064	44839064	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:44839064C>T	uc002xrm.2	-	5	1567	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CDH22_uc010ghk.1_Missense_Mutation_p.E390K|CDH22_uc002xrn.2_Missense_Mutation_p.E141K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	390	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGGGGGCTCGTCCACGTCG	0.736000														6			14		0	0	0.003163	0	0
LILRB3	11025	broad.mit.edu	37	19	54803632	54803632	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54803632C>T	uc002qfd.3	-	2	284	c.192G>A	c.(190-192)aaG>aaA	p.K64K	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.K64K	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	64	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGCTGTTTTCTTTTCTCTAT	0.547000														53			58		0	0	0.003610	0	0
NFATC3	4775	broad.mit.edu	37	16	68217229	68217229	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:68217229G>A	uc002evo.2	+	7	2374	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	NFATC3_uc010vkl.2_Silent_p.K207K|NFATC3_uc010vkm.2_Silent_p.K207K|NFATC3_uc010vkn.2_Silent_p.K207K|NFATC3_uc010vko.2_Silent_p.K207K|NFATC3_uc010vkp.2_Silent_p.K207K|NFATC3_uc010vkq.2_Silent_p.K207K|NFATC3_uc002evl.3_Silent_p.K207K|NFATC3_uc002evk.3_Silent_p.K686K|NFATC3_uc002evm.2_Silent_p.K686K|NFATC3_uc002evn.2_Silent_p.K686K|NFATC3_uc010vkr.2_Silent_p.K207K|NFATC3_uc010vks.2_Silent_p.K207K|NFATC3_uc010vkt.2_Silent_p.K207K|NFATC3_uc010vku.2_Silent_p.K207K|NFATC3_uc010vkv.2_Silent_p.K207K|NFATC3_uc010vkw.2_Silent_p.K207K|NFATC3_uc010vkx.2_Silent_p.K207K|NFATC3_uc010vky.2_Silent_p.K207K|NFATC3_uc010vkz.2_Silent_p.K207K|NFATC3_uc010vla.2_Silent_p.K207K|NFATC3_uc010vlb.2_Silent_p.K207K|NFATC3_uc010vlc.2_Silent_p.K207K	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	686					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATGGCAAGAGGAAAAAAA	0.398000														73			43		0	0	0.002222	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089771	102089771	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:102089771G>A	uc001kqx.1	-	0	473	c.90C>T	c.(88-90)tcC>tcT	p.S30S	PKD2L1_uc009xwm.1_5'UTR	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	30					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCCGTGTGGGGAAGGGGGAC	0.622000														47			27		0	0	0.006320	0	0
SPAG17	200162	broad.mit.edu	37	1	118523996	118523996	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:118523996C>T	uc001ehk.2	-	42	5969	c.5901G>A	c.(5899-5901)caG>caA	p.Q1967Q	SPAG17_uc021osr.1_Silent_p.Q477Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1967						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)		TTGAGGATTTCTGTTCTGAAA	0.338000														98			14		0	0	0.004990	0	0
CTDP1	9150	broad.mit.edu	37	18	77474843	77474843	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:77474843C>T	uc002lnh.2	+	7	1530	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	CTDP1_uc002lni.2_Silent_p.S461S|CTDP1_uc010drd.2_Silent_p.S461S|CTDP1_uc021ult.1_Silent_p.S342S	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	461	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCGAGAGCAGCAGTGAGTCCG	0.677000														7			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179422027	179422027	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179422027C>T	uc021vsy.1	-	277	80483	c.80258G>A	c.(80257-80259)gGa>gAa	p.G26753E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20448E|TTN_uc021vta.1_Missense_Mutation_p.G20381E|TTN_uc021vtb.1_Missense_Mutation_p.G20256E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27680	Ig-like 128.						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)			GCTAGGTTTTCCAACTCCAGC	0.418000														29			26		0	0	0.003954	0	0
MYO5B	4645	broad.mit.edu	37	18	47506853	47506853	+	Silent	SNP	C	T	T	rs139934455	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:47506853C>T	uc002leb.2	-	8	1305	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	MYO5B_uc021ukb.1_Silent_p.A338A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	339	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGCCTGAATCGCCACACTTC	0.403000														28			10		0	0	0.000978	0	0
COL5A3	50509	broad.mit.edu	37	19	10107173	10107173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:10107173G>A	uc002mmq.1	-	12	1444	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	453	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCTTTAAAGGAGCCGCCTGC	0.617000														31			8		0	0	0.003080	0	0
ADCY7	113	broad.mit.edu	37	16	50338390	50338390	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:50338390C>T	uc002egd.1	+	9	1756	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	ADCY7_uc002egb.1_Silent_p.P496P|ADCY7_uc002egc.2_Silent_p.P496P	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	496					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGGCACGGCCCTTTGCACATC	0.677000														68			48		0	0	0.003610	0	0
CDH2	1000	broad.mit.edu	37	18	25573486	25573486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:25573486G>A	uc002kwg.2	-	7	1595	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	CDH2_uc010xbn.1_Missense_Mutation_p.P348L	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	379	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.P379S(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAACTCTGGAGGATTGTCATT	0.448000														119			129		0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313652	54313652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54313652C>T	uc002qcj.4	-	2	1481	c.1261G>A	c.(1261-1263)Ggg>Agg	p.G421R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G421R|NLRP12_uc002qci.4_Missense_Mutation_p.G421R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G421R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	421	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACAGCCCCCCACCCTCCAGC	0.622000														85			81		0	0	0.003610	0	0
ZNF226	7769	broad.mit.edu	37	19	44680330	44680330	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44680330A>G	uc002oys.3	+	5	1095	c.915A>G	c.(913-915)gaA>gaG	p.E305E	ZNF226_uc002oyp.3_Silent_p.E305E|ZNF226_uc002oyq.3_Silent_p.E188E|ZNF226_uc002oyr.3_Silent_p.E188E|ZNF226_uc002oyt.3_Silent_p.E305E	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATGTGGGAGAAAAACTTAAGT	0.433000														35			14		0	0	0.003163	0	0
NLK	51701	broad.mit.edu	37	17	26370206	26370206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:26370206C>T	uc010crj.3	+	0	519	c.307C>T	c.(307-309)Cct>Tct	p.P103S		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	103					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGGGCAGGCTCCTGGACCAGC	0.627000														32			26		0	0	0.003330	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736542	26736542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26736542C>T	uc003acb.3	+	9	2352	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L	SEZ6L_uc003acd.3_Missense_Mutation_p.S719L|SEZ6L_uc011akd.2_Missense_Mutation_p.S719L|SEZ6L_uc003ace.3_Missense_Mutation_p.S719L|SEZ6L_uc011akc.2_Missense_Mutation_p.S719L|SEZ6L_uc003acc.3_Missense_Mutation_p.S719L|SEZ6L_uc003acf.1_Missense_Mutation_p.S492L|SEZ6L_uc010gvc.1_Missense_Mutation_p.S492L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	719	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGTTCCATTCGGACCCTGCT	0.498000														14			39		0	0	0.002222	0	0
PHC2	1912	broad.mit.edu	37	1	33840973	33840973	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:33840973G>A	uc009vuh.1	-	1	657	c.168C>T	c.(166-168)acC>acT	p.T56T	PHC2_uc001bxg.1_Silent_p.T56T|PHC2_uc001bxh.1_Silent_p.T56T|PHC2_uc001bxi.1_Silent_p.T56T	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	56	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTACCTGCACGGTCTGCCGGT	0.537000														50			39		0	0	0.002522	0	0
EVPL	2125	broad.mit.edu	37	17	74020174	74020174	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:74020174G>A	uc010wss.1	-	1	354	c.126C>T	c.(124-126)ctC>ctT	p.L42L	EVPL_uc002jqi.2_Silent_p.L42L|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	42	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGGAGATGAGAAGGGCCA	0.672000														25			12		0	0	0.004990	0	0
NEBL	10529	broad.mit.edu	37	10	21120485	21120485	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:21120485C>T	uc001iqi.3	-	14	1874	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	493					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTTAATTTCAGTCTCCAGA	0.423000														10			28		0	0	0.007291	0	0
EHD3	30845	broad.mit.edu	37	2	31457696	31457696	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:31457696G>A	uc002rnu.3	+	0	817	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EHD3_uc010ymt.2_Missense_Mutation_p.G70E	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	70					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TACTCCACTGGGAAGACCACC	0.642000														22			30		0	0	0.002096	0	0
FAM73B	84895	broad.mit.edu	37	9	131832549	131832549	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131832549G>A	uc004bxa.3	+	15	1785	c.1599G>A	c.(1597-1599)agG>agA	p.R533R	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc004bxb.3_Silent_p.R109R	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	533						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGTACCTGAGGGACATGTTCG	0.642000														67			23		0	0	0.008361	0	0
UPF3B	65109	broad.mit.edu	37	X	118986799	118986799	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:118986799C>T	uc004erz.2	-	0	193	c.93G>A	c.(91-93)ggG>ggA	p.G31G	UPF3B_uc004esa.2_Silent_p.G31G	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	31	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TGGAGCTGTCCCCCGAGGTCC	0.637000														95			119		0	0	0.003610	0	0
MKRN3	7681	broad.mit.edu	37	15	23811889	23811889	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:23811889G>A	uc001ywh.4	+	0	1436	c.960G>A	c.(958-960)gaG>gaA	p.E320E	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E320E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	320						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGTCTATGAGAAGGCCAACC	0.507000														34			32		0	0	0.003271	0	0
THEMIS	387357	broad.mit.edu	37	6	128222009	128222009	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:128222009G>A	uc011ebt.2	-	0	218	c.69C>T	c.(67-69)atC>atT	p.I23I	THEMIS_uc021zfa.1_Silent_p.I23I|THEMIS_uc010kfb.3_Intron	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	23	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCCTGCCTGGATTTCTAGAA	0.448000														23			52		0	0	0.003610	0	0
SGPP2	130367	broad.mit.edu	37	2	223339413	223339413	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:223339413T>C	uc010zlo.2	+	1	346	c.346T>C	c.(346-348)Tat>Cat	p.Y116H	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	116					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TATTGACCCTTATTTATCCAG	0.338000														54			21		0	0	0.001882	0	0
LAMA2	3908	broad.mit.edu	37	6	129636770	129636770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:129636770G>A	uc021zfb.1	+	24	3810	c.3705G>A	c.(3703-3705)tgG>tgA	p.W1235*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.W1235*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.W1235*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1235	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTTTTATTGGAAACTTCCAG	0.388000														16			39		0	0	0.002852	0	0
NLRP2	55655	broad.mit.edu	37	19	55508784	55508784	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55508784C>T	uc021vbq.1	+	11	3090	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P	NLRP2_uc010yfp.2_Silent_p.P970P|NLRP2_uc002qij.3_Silent_p.P993P|NLRP2_uc010esp.3_Silent_p.P971P|NLRP2_uc010esn.3_Silent_p.P969P|NLRP2_uc010eso.3_Silent_p.P990P	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	993					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCAGAATCCCTTGGGGTCTA	0.542000														72			95		0	0	0.003610	0	0
ZNF749	388567	broad.mit.edu	37	19	57956042	57956043	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:57956042_57956043GG>AA	uc002qoq.2	+	2	1780_1781	c.1526_1527GG>AA	c.(1525-1527)cgg>cAA	p.R509Q		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTGGAGAACGGCCTTATGAAT	0.455000														33			42		0	0	0.004672	0	0
EMD	2010	broad.mit.edu	37	X	153609333	153609333	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153609333T>A	uc004fkl.3	+	5	789	c.541T>A	c.(541-543)Tat>Aat	p.Y181N		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	181	Interaction with CTNNB1.|Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACCTGTCCTATTATCCTAC	0.587000														45			41		0	0	0.006230	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	C	C	rs112064181	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:29061941T>C	uc021tug.1	+	1		c.231T>C			SUZ12P1_uc002hfp.3_Non-coding_Transcript|SUZ12P1_uc002hfq.3_Non-coding_Transcript					Homo sapiens suppressor of zeste 12 homolog pseudogene (SUZ12P), non-coding RNA.																		TAGATTTCTTTGAACTCGGAA	0.303000														90			5		0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168103229	168103229	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:168103229G>A	uc002udx.3	+	8	5416	c.5327G>A	c.(5326-5328)gGa>gAa	p.G1776E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1601E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1554E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1601					actin cytoskeleton organization	cell junction	actin binding	p.G1776E(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACAAGAAGGAGAGAAAGAA	0.398000														24			55		0	0	0.003610	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12918083	12918083	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:12918083T>G	uc002mvg.1	+	2	323	c.263T>G	c.(262-264)tTt>tGt	p.F88C		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	88					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GACACGGACTTTGTCGGCTGG	0.597000														126			48		0	0	0.003610	0	0
VGLL1	51442	broad.mit.edu	37	X	135631094	135631094	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:135631094G>A	uc004ezy.3	+	2	731	c.561G>A	c.(559-561)agG>agA	p.R187R	MIR934_uc022cev.1_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.A186T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTGCCGCCAGGGAGAATGGCA	0.567000														70			64		0	0	0.003610	0	0
P4HA1	5033	broad.mit.edu	37	10	74813221	74813221	+	Silent	SNP	G	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:74813221G>C	uc021ptk.1	-	4	623	c.591C>G	c.(589-591)ggC>ggG	p.G197G	P4HA1_uc010qka.2_Silent_p.G197G|P4HA1_uc001jth.3_Silent_p.G197G|P4HA1_uc001jtg.3_Silent_p.G197G|P4HA1_uc010qkb.2_Silent_p.G197G|P4HA1_uc021ptj.1_Silent_p.G197G	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	197						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGAAATCTCGCCTTCATCCA	0.448000														46			18		0	0	0.007413	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807165	124807165	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:124807165G>A	uc003ehw.4	-	12	2128	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	SLC12A8_uc003ehv.4_Silent_p.L657L|SLC12A8_uc003eht.4_Silent_p.L458L|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	657					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGCAGGAGGGGAGCAAGAGAG	0.517000														22			16		0	0	0.006122	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692950	26692950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26692950G>A	uc003acb.3	+	3	1262	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SEZ6L_uc003acd.3_Missense_Mutation_p.E356K|SEZ6L_uc011akd.2_Missense_Mutation_p.E356K|SEZ6L_uc003ace.3_Missense_Mutation_p.E356K|SEZ6L_uc011akc.2_Missense_Mutation_p.E356K|SEZ6L_uc003acc.3_Missense_Mutation_p.E356K|SEZ6L_uc003acf.1_Missense_Mutation_p.E129K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E129K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	356	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTCCTGGTGGAGGGGCAGGT	0.622000														11			24		0	0	0.003330	0	0
DARC	2532	broad.mit.edu	37	1	159176010	159176010	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159176010G>A	uc001ftp.4	+	0	962	c.787G>A	c.(787-789)Gga>Aga	p.G263R	DARC_uc001fto.3_Missense_Mutation_p.G261R	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	261					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGTGGTTCTAGGACTGGATTT	0.567000														182			37		0	0	0.003755	0	0
KL	9365	broad.mit.edu	37	13	33635527	33635527	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:33635527C>T	uc001uus.3	+	3	2319	c.2311C>T	c.(2311-2313)Cca>Tca	p.P771S	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	771	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGAGATTATCCATGGGTGAT	0.443000														52			22		0	0	0.003330	0	0
CCDC63	160762	broad.mit.edu	37	12	111345145	111345145	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:111345145C>T	uc001trv.1	+	11	1752	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	CCDC63_uc010sye.1_Silent_p.P479P|CCDC63_uc001trw.1_Silent_p.P434P	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	519										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGGAACAGCCCCTGGACCACA	0.572000														25			15		0	0	0.003163	0	0
UGT8	7368	broad.mit.edu	37	4	115586899	115586899	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:115586899A>T	uc003ibs.2	+	3	1551	c.1029A>T	c.(1027-1029)caA>caT	p.Q343H	UGT8_uc003ibt.2_Missense_Mutation_p.Q343H|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	343					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGTTACCACAAAATGACCTGC	0.323000														27			16		0	0	0.004990	0	0
CLNK	116449	broad.mit.edu	37	4	10599619	10599619	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:10599619G>A	uc003gmo.4	-	2	203	c.66C>T	c.(64-66)ttC>ttT	p.F22F	CLNK_uc003gmp.3_5'UTR	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	22					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTGGCAGACTGAAGTTCTGGA	0.338000														6			5		0	0	0.000602	0	0
DUSP15	128853	broad.mit.edu	37	20	30438438	30438438	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:30438438G>A	uc002wwu.1	-	6	545	c.468C>T	c.(466-468)tgC>tgT	p.C156C				Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	156						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGGAGGGCATTGGGCAC	0.602000														16			6		0	0	0.003080	0	0
POLG	5428	broad.mit.edu	37	15	89873432	89873432	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:89873432G>A	uc002bns.4	-	2	1017	c.735C>T	c.(733-735)atC>atT	p.I245I	POLG_uc002bnr.4_Silent_p.I245I	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	245					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTCCAGGGGGATGAGGTCAG	0.612000								DNA polymerases (catalytic subunits)						27			41		0	0	0.008740	0	0
CCR7	1236	broad.mit.edu	37	17	38711855	38711855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38711855C>T	uc002huw.3	-	2	351	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	92					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGGTATCGGTCATGGTCTTGA	0.552000														43			66		0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39467023	39467023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:39467023G>A	uc003xni.3	+	4	342	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ADAM18_uc003xnh.3_Missense_Mutation_p.G96E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G96E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	96					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTACCAAGGATATGCTGCC	0.328000														27			13		0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418350	105418350	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:105418350C>T	uc010axc.1	-	6	3558	c.3438G>A	c.(3436-3438)gaG>gaA	p.E1146E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E1046E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1146						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGTTCCCCCTCCAGCCGCG	0.632000														188			74		0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137659200	137659200	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:137659200G>A	uc004cfe.3	+	24	2614	c.2232_splice	c.e24+1	p.K744_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	744	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)		CAGGAGAAAAGGTAGGTGGGC	0.612000														36			11		0	0	0.001368	0	0
GPA33	10223	broad.mit.edu	37	1	167032862	167032862	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167032862C>T	uc001gea.1	-	3	872	c.528G>A	c.(526-528)aaG>aaA	p.K176K		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	176	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTGTACCTCTTCCAGCTGT	0.572000														109			14		0	0	0.003163	0	0
PTK6	5753	broad.mit.edu	37	20	62168557	62168557	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:62168557C>T	uc002yfg.3	-	0	151	c.111G>A	c.(109-111)gtG>gtA	p.V37V	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Silent_p.V37V	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	37	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CCTTCCTGGCCACGTGGAAGA	0.692000														20			4		0	0	0.000248	0	0
STXBP5L	9515	broad.mit.edu	37	3	120628589	120628589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:120628589C>T	uc003eec.4	+	1	304	c.164C>T	c.(163-165)aCt>aTt	p.T55I	STXBP5L_uc011bji.2_Missense_Mutation_p.T55I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	55					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L54F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAACTTTGACTTCGGAGTAT	0.448000														35			6		0	0	0.003080	0	0
RASD1	51655	broad.mit.edu	37	17	17398703	17398703	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:17398703C>T	uc002gri.3	-	1	796	c.582G>A	c.(580-582)atG>atA	p.M194I	RASD1_uc021trg.1_3'UTR	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	194					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GCAGCTTGGCCATGGCGAAGA	0.637000														12			6		0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114254312	114254312	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:114254312C>G	uc003ibe.4	+	28	3427	c.3327C>G	c.(3325-3327)ttC>ttG	p.F1109L	ANK2_uc003ibd.4_Missense_Mutation_p.F1100L|ANK2_uc003ibf.4_Missense_Mutation_p.F1109L|ANK2_uc011cgc.2_Missense_Mutation_p.F285L|ANK2_uc003ibg.4_Missense_Mutation_p.F104L|ANK2_uc003ibc.2_Missense_Mutation_p.F1085L|ANK2_uc011cgb.1_Missense_Mutation_p.F1124L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1076	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGCATTTCTGTGACTACA	0.453000														31			26		0	0	0.005443	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298919	125298919	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:125298919G>A	uc004euk.2	-	0	1162	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	330										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCAGGAAGGAGACGTGGGA	0.617000														95			31		0	0	0.002096	0	0
CCDC158	339965	broad.mit.edu	37	4	77250090	77250090	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:77250090C>T	uc003hkb.4	-	20	3114	c.2961G>A	c.(2959-2961)agG>agA	p.R987R		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	987	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGATCTTCCCTGTCTCCTG	0.443000														26			15		0	0	0.002450	0	0
SELPLG	6404	broad.mit.edu	37	12	109017681	109017681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:109017681G>A	uc010sxe.2	-	1	628	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	SELPLG_uc001tni.3_Nonsense_Mutation_p.Q135*|SELPLG_uc021rdm.1_Intron|SELPLG_uc001tnh.3_Intron	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	135	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGCACTGGTTGAGTGGTCTGT	0.617000														98			32		0	0	0.003271	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8384397C>G	uc010sgk.2	-	4		c.1391G>C								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000														38			3		0	0	0.001984	0	0
GPR116	221395	broad.mit.edu	37	6	46826901	46826901	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:46826901G>A	uc003oyo.3	-	16	3028	c.2739C>T	c.(2737-2739)atC>atT	p.I913I	GPR116_uc011dwj.1_Silent_p.I468I|GPR116_uc011dwk.1_Silent_p.I342I|GPR116_uc003oyp.3_Silent_p.I771I|GPR116_uc003oyq.3_Silent_p.I913I|GPR116_uc010jzi.1_Silent_p.I585I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	913					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TATTTTCCTGGATATCCTGGG	0.428000														60			46		0	0	0.003610	0	0
OR2A12	346525	broad.mit.edu	37	7	143793069	143793069	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143793069G>A	uc011kty.2	+	0	869	c.869G>A	c.(868-870)aGc>aAc	p.S290N		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCATCTACAGCCTTAGGAAT	0.463000														238			85		0	0	0.003610	0	0
GLP1R	2740	broad.mit.edu	37	6	39047370	39047370	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:39047370C>T	uc003ooj.4	+	10	1134	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	358					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CACTCATCCCCCTGCTGGGGA	0.567000														69			38		0	0	0.005524	0	0
CLCN1	1180	broad.mit.edu	37	7	143018840	143018840	+	Missense_Mutation	SNP	C	T	T	rs143506735		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143018840C>T	uc003wcr.1	+	4	682	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.R47C	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	199					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACAATACTTCGTGGGGTTGT	0.507000														58			23		0	0	0.002780	0	0
SCML2	10389	broad.mit.edu	37	X	18264864	18264864	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:18264864C>T	uc004cyl.2	-	12	1812	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.G552E|SCML2_uc011miz.1_Missense_Mutation_p.G486E|SCML2_uc010nfc.2_Missense_Mutation_p.G288E	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	552					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAAATAATTTCCTGAATTTAG	0.418000														88			91		0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107850122	107850123	+	Splice_Site	DNP	GG	AA	AA	rs104886178		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:107850122_107850123GG>AA	uc022ccg.1	+	29	2597	c.2395_splice	c.e29+1	p.G799_splice	COL4A5_uc004enz.1_Splice_Site_p.G799_splice|COL4A5_uc004eob.1_Splice_Site_p.G407_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	799	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGACCAAAAGGTATGGAGGCT	0.480000									Alport syndrome with Diffuse Leiomyomatosis					68			57		0	0	0.004672	0	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18269549	18269549	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:18269549G>A	uc021qel.1	-	1	86	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.L4F|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.L4F	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		AGGCCCGTGAGAAGCTTCATG	0.512000														47			4		0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11082931	11082931	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:11082931G>A	uc003jfa.1	-	15	2810	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	CTNND2_uc010itt.2_Nonsense_Mutation_p.R798*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R552*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R456*|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R481*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	889					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R889*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTTTTCGGACAGCGGCT	0.537000														35			34		0	0	0.005524	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539583	48539583	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48539583G>A	uc001zwn.4	+	12	1826	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	SLC12A1_uc010uew.1_Missense_Mutation_p.G343E|SLC12A1_uc010bem.3_Missense_Mutation_p.G537E|SLC12A1_uc001zwq.4_Missense_Mutation_p.G308E|SLC12A1_uc001zwr.4_Missense_Mutation_p.G264E	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	537					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)	TTTGCAAAGGGATATGGGAAA	0.348000														33			31		0	0	0.003271	0	0
THBS2	7058	broad.mit.edu	37	6	169639732	169639732	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:169639732G>A	uc003qwt.3	-	7	1339	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	364	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCACAAAGGATGGACTGGC	0.483000														4			12		0	0	0.002450	0	0
ERN2	10595	broad.mit.edu	37	16	23707279	23707279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:23707279C>T	uc002dma.4	-	13	1859	c.1690G>A	c.(1690-1692)Ggg>Agg	p.G564R	ERN2_uc010bxp.3_Missense_Mutation_p.G512R	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	516	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAAATCTTCCCCACTACGGTG	0.637000														54			10		0	0	0.001368	0	0
LILRP2	79166	broad.mit.edu	37	19	55221995	55221995	+	RNA	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55221995C>T	uc002qgs.1	+	0		c.2395C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TGGACACTTTCCTTCTGACCA	0.622000														39			15		0	0	0.002450	0	0
MMS22L	253714	broad.mit.edu	37	6	97599701	97599701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:97599701G>A	uc003ppb.3	-	22	3694	c.3428C>T	c.(3427-3429)gCc>gTc	p.A1143V	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.A1103V	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1143					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACTTGGCAGGCTTTTACCAT	0.458000														174			29		0	0	0.002096	0	0
CACNA1B	774	broad.mit.edu	37	9	140878646	140878646	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:140878646C>T	uc004cog.3	+	12	1858	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	CACNA1B_uc022bqn.1_Silent_p.S571S|CACNA1B_uc011mfd.2_Silent_p.S173S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	571					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGGAAGCTCCTTTGGGATCA	0.622000														12			7		0	0	0.004482	0	0
TEX10	54881	broad.mit.edu	37	9	103111476	103111476	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:103111476A>C	uc004bas.3	-	1	385	c.170T>G	c.(169-171)cTt>cGt	p.L57R	TEX10_uc011lvf.2_5'Flank|TEX10_uc011lvg.2_Missense_Mutation_p.L60R|TEX10_uc011lvh.1_Intron	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	57						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CTTTATGTTAAGTTTTCTATT	0.289000														13			20		0	0	0.001523	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481643	27481643	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:27481643G>A	uc002rjk.3	-	1	441	c.255C>T	c.(253-255)gtC>gtT	p.V85V	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Silent_p.V80V	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	85					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATGAAGACAAAGCAAA	0.607000														97			11		0	0	0.001855	0	0
VARS	7407	broad.mit.edu	37	6	31747282	31747282	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31747282G>A	uc003nxe.3	-	27	3743	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.A44V	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1107					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGCTCAAGGGCGGCTTCTGC	0.687000														199			167		0	0	0.003610	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118633	118633	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrGL000209.1:118633G>C	uc010yie.2	+	2	121	c.110G>C	c.(109-111)cGc>cCc	p.R37P	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R34P|KIR2DL2_uc002qum.3_Missense_Mutation_p.R37P	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	37			R -> P (in dbSNP:rs613240).		regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCCAGGTCGCCTGGTGAAA	0.488000														241			7		0	0	0.001984	0	0
SPAG17	200162	broad.mit.edu	37	1	118550790	118550790	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:118550790C>T	uc001ehk.2	-	30	4532	c.4464G>A	c.(4462-4464)gtG>gtA	p.V1488V	SPAG17_uc021osr.1_5'UTR	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1488						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)		GCATACACTTCACCTGCCTGG	0.493000														71			11		0	0	0.001855	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688755	131688755	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:131688755G>A	uc002tsa.1	+	2	744	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ARHGEF4_uc010fmw.1_Silent_p.Q721Q|ARHGEF4_uc002tsb.1_Silent_p.Q75Q|ARHGEF4_uc010fmx.1_Silent_p.Q75Q|ARHGEF4_uc002trz.1_Silent_p.Q721Q	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	75	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGACACAGAGAAAGAAGT	0.597000														21			11		0	0	0.008291	0	0
BRD2	6046	broad.mit.edu	37	6	32944456	32944456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:32944456C>T	uc010juh.3	+	5	2247	c.943C>T	c.(943-945)Cct>Tct	p.P315S	BRD2_uc003ocn.4_Missense_Mutation_p.P315S|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.P195S|BRD2_uc003ocq.4_Missense_Mutation_p.P315S|BRD2_uc021ywf.1_Missense_Mutation_p.P268S	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	315					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						ACGGCTTCCCCCTATGCGTAG	0.552000														94			12		0	0	0.003163	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459496	107459496	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:107459496T>A	uc002tdq.3	-	1	1057	c.938A>T	c.(937-939)gAa>gTa	p.E313V	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E313V|ST6GAL2_uc002tds.3_Missense_Mutation_p.E313V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTACCTATTTCCTCGCCCAA	0.667000														11			4		0	0	0.001168	0	0
ZNF544	27300	broad.mit.edu	37	19	58772459	58772460	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:58772459_58772460GG>AA	uc010euo.3	+	6	961_962	c.487_488GG>AA	c.(487-489)gga>AAa	p.G163K	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.G135K|ZNF544_uc010yhy.2_Missense_Mutation_p.G135K|ZNF544_uc002qrt.4_Missense_Mutation_p.G21K|ZNF544_uc002qru.4_Missense_Mutation_p.G21K|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGAACTTGGGGGAGGTTATTCT	0.436000														48			10		0	0	0.004672	0	0
MOSPD2	158747	broad.mit.edu	37	X	14915261	14915261	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:14915261G>A	uc004cwi.3	+	4	502	c.378G>A	c.(376-378)aaG>aaA	p.K126K	MOSPD2_uc004cwj.3_Silent_p.K63K	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	126	CRAL-TRIO.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TGGACAAAAAGAAGCTCATAG	0.363000														76			25		0	0	0.007291	0	0
OR52J3	119679	broad.mit.edu	37	11	5067811	5067811	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:5067811T>C	uc010qyv.2	+	0	56	c.56T>C	c.(55-57)aTc>aCc	p.I19T		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCATTGGAATCCCAGGTCTG	0.453000														12			38		0	0	0.003610	0	0
C15orf2	23742	broad.mit.edu	37	15	24921168	24921168	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:24921168C>T	uc001ywo.3	+	0	628	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	52					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGGCCTGTTCCGCCGGAACGC	0.751000														50			14		0	0	0.004007	0	0
LILRB2	10288	broad.mit.edu	37	19	54782907	54782907	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54782907C>T	uc002qfb.3	-	5	981	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.E239K|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E239K|LILRB2_uc010yet.2_Missense_Mutation_p.E123K|LILRB2_uc010yeu.1_Intron	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	239	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCAGGCTTTCCCCAGGGGCC	0.592000														70			19		0	0	0.001523	0	0
JAG1	182	broad.mit.edu	37	20	10622123	10622123	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:10622123C>T	uc002wnw.2	-	22	3417	c.2901G>A	c.(2899-2901)aaG>aaA	p.K967K	JAG1_uc010gcd.1_Silent_p.K525K	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	967					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACATCATCTCCTTGTTAAAGG	0.443000									Alagille Syndrome					70			88		0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369802	86369803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:86369802_86369803CC>TT	uc001vll.1	-	1	1300_1301	c.841_842GG>AA	c.(841-843)gga>AAa	p.G281K	SLITRK6_uc021rla.1_Missense_Mutation_p.G281K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	281						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGTAATGATCCTGAAGGATCC	0.406000														79			17		0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	114111073	114111073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:114111073C>T	uc003ynu.3	-	4	988	c.829G>A	c.(829-831)Gac>Aac	p.D277N	CSMD3_uc003ynt.3_Missense_Mutation_p.D237N|CSMD3_uc011lhx.2_Missense_Mutation_p.D277N|CSMD3_uc010mcx.1_Missense_Mutation_p.D277N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	277	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATTGTGTCCCCAGGCTCT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				27			15		0	0	0.002450	0	0
POF1B	79983	broad.mit.edu	37	X	84586003	84586003	+	Missense_Mutation	SNP	G	A	A	rs148186919	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:84586003G>A	uc004eer.2	-	6	952	c.806C>T	c.(805-807)aCg>aTg	p.T269M	POF1B_uc004ees.3_Missense_Mutation_p.T269M	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	269							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATATAGATCCGTATTCTTACG	0.383000														19			30		0	0	0.008361	0	0
DLG2	1740	broad.mit.edu	37	11	83344290	83344290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:83344290G>A	uc001paj.2	-	13	1892	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	DLG2_uc001pai.2_Missense_Mutation_p.S427F|DLG2_uc010rsy.1_Missense_Mutation_p.S497F|DLG2_uc021qof.1_Missense_Mutation_p.S569F|DLG2_uc010rsz.1_Missense_Mutation_p.S530F|DLG2_uc010rta.1_Missense_Mutation_p.S530F|DLG2_uc001pak.2_Missense_Mutation_p.S635F|DLG2_uc010rtb.1_Missense_Mutation_p.S497F|DLG2_uc001pal.1_Missense_Mutation_p.S530F|DLG2_uc010rsx.1_Missense_Mutation_p.S11F|DLG2_uc010rsw.1_Missense_Mutation_p.S12F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	530						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.S530F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGTTCGCAGGGATCCGGACCC	0.473000														24			17		0	0	0.007413	0	0
MYC	4609	broad.mit.edu	37	8	128750680	128750680	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:128750680A>C	uc022bbe.1	+	1	742	c.172A>C	c.(172-174)Acc>Ccc	p.T58P	MYC_uc003ysh.1_Missense_Mutation_p.T58P|MYC_uc003ysi.3_Missense_Mutation_p.T73P			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	58					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GCTGCTGCCCACCCCGCCCCT	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	0.001368	0	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	T	T	rs147710831		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:39311416C>T	uc003jlv.4	-	6	1023	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.R311C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000														64			23		0	0	0.002780	0	0
C2orf55	343990	broad.mit.edu	37	2	99448906	99448906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:99448906C>T	uc002szf.1	-	4	739	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	149										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCGGCATCCTCTCCCCGCTTG	0.552000														39			58		0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547701	125547701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:125547701G>A	uc010flu.3	+	17	3339	c.2975G>A	c.(2974-2976)gGg>gAg	p.G992E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G991E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	991	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTATGAAGGGCCCTTTTGC	0.522000														37			11		0	0	0.008291	0	0
ADAM21	8747	broad.mit.edu	37	14	70924754	70924754	+	Missense_Mutation	SNP	G	A	A	rs143022031	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:70924754G>A	uc021rvq.1	+	0	538	c.538G>A	c.(538-540)Gta>Ata	p.V180I	ADAM21_uc001xmd.3_Missense_Mutation_p.V180I	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	180					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGAGAAGGAAGTAGCACGCCA	0.458000														58			7		0	0	0.001984	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792333	38792333	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:38792333C>T	uc001zke.4	-	13	1869	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.G391E|RASGRP1_uc010bbg.3_Missense_Mutation_p.G391E|RASGRP1_uc001zkd.4_Missense_Mutation_p.G529E	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	564					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTTGATCACTCCCCAGAGCTA	0.413000														120			33		0	0	0.004878	0	0
SYT4	6860	broad.mit.edu	37	18	40850574	40850574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:40850574C>T	uc002law.3	-	3	1379	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.R319K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	337	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGGAGATTCTCTTTTTGGC	0.428000														31			26		0	0	0.002096	0	0
RANBP9	10048	broad.mit.edu	37	6	13644842	13644842	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:13644842G>A	uc003nbb.3	-	5	1106	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	RANBP9_uc003nba.3_Silent_p.I8I	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	349					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTGTGCCTGGATTTTGGTTC	0.428000														114			26		0	0	0.004656	0	0
ADORA1	134	broad.mit.edu	37	1	203134630	203134630	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:203134630C>T	uc010pqh.1	+	2	719	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	ADORA1_uc001gzf.1_Missense_Mutation_p.L195F|ADORA1_uc001gze.1_Missense_Mutation_p.L195F|ADORA1_uc010pqg.1_Missense_Mutation_p.L127F|ADORA1_uc009xak.1_Missense_Mutation_p.P120L	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	195					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCCGCTTCTCCTCATGGTCCT	0.552000														113			19		0	0	0.001523	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:5364610C>T	uc001map.1	-	0	145	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E49K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGATCTTCCTTAATGAGA	0.498000														31			23		0	0	0.002299	0	0
C20orf152	140894	broad.mit.edu	37	20	34568455	34568455	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:34568455C>T	uc002xer.1	+	3	474	c.318C>T	c.(316-318)gcC>gcT	p.A106A	C20orf152_uc002xes.1_Silent_p.A106A|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	106										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					AGATCCAGGCCGTCTGTAACA	0.542000														43			46		0	0	0.002852	0	0
PKN3	29941	broad.mit.edu	37	9	131476863	131476863	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131476863C>T	uc004bvw.3	+	11	1897	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	PKN3_uc010myh.3_Missense_Mutation_p.P502S|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	502	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CAAGAAGACCCCCTTGGGTGA	0.597000														50			36		0	0	0.004289	0	0
CHGB	1114	broad.mit.edu	37	20	5904000	5904000	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:5904000G>A	uc002wmg.3	+	3	1516	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	CHGB_uc010zqz.2_Missense_Mutation_p.E87K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	404						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATATGGTGAAGAAAGTGAGGA	0.542000														93			19		0	0	0.008871	0	0
WIPF2	147179	broad.mit.edu	37	17	38430095	38430095	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38430095C>T	uc002hug.1	+	5	1264	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	WIPF2_uc002huh.1_Missense_Mutation_p.P192S|WIPF2_uc010cww.1_Missense_Mutation_p.P192S|WIPF2_uc002hui.1_Missense_Mutation_p.P342S|WIPF2_uc010cwx.1_Missense_Mutation_p.P84S|WIPF2_uc010cwy.1_Missense_Mutation_p.P342S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	342	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGCTCCCCCTCCCCCACCACC	0.607000										HNSCC(43;0.11)				48			12		0	0	0.000978	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984913	41984913	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:41984913C>T	uc003gwk.2	+	0	1201	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	368										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCGTGGCCTTCGCTTCTCGGC	0.607000														22			10		0	0	0.006214	0	0
EFR3A	23167	broad.mit.edu	37	8	132991155	132991155	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:132991155C>T	uc003yte.3	+	12	1592	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	463						plasma membrane	binding	p.D462Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCCTGGATCCTTTGTTATCA	0.428000														60			20		0	0	0.007413	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384575	21384575	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:21384575C>T	uc002zud.3	-	2	1116	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	SLC7A4_uc002zue.3_Missense_Mutation_p.D350N	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	350					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAGCCCATCGGCGGCCATG	0.642000														10			40		0	0	0.003610	0	0
CBS	875	broad.mit.edu	37	21	44485567	44485567	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:44485567G>A	uc002zcu.2	-	6	841	c.596C>T	c.(595-597)tCc>tTc	p.S199F	CBS_uc002zcs.1_Missense_Mutation_p.S94F|CBS_uc002zct.2_Missense_Mutation_p.S199F|CBS_uc002zcw.3_Missense_Mutation_p.S199F|CBS_uc002zcv.2_Missense_Mutation_p.S199F	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	199					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	p.D198E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGACTCCGGGGAGTCGAACCT	0.642000														278			187		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437414	110437414	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110437414C>T	uc003yne.3	+	23	2902	c.2798C>T	c.(2797-2799)cCt>cTt	p.P933L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	933					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A932A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATCTCCACCTCTAAGTGGC	0.348000										HNSCC(38;0.096)				20			8		0	0	0.003080	0	0
CEP290	80184	broad.mit.edu	37	12	88462406	88462406	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:88462406G>A	uc001tar.3	-	43	6372	c.6028C>T	c.(6028-6030)Cct>Tct	p.P2010S	CEP290_uc001taq.3_Missense_Mutation_p.P1070S	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2010					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GAATCTCGAGGAAGAGCTTGG	0.303000														39			50		0	0	0.003610	0	0
ZNF226	7769	broad.mit.edu	37	19	44680334	44680334	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44680334C>A	uc002oys.3	+	5	1099	c.919C>A	c.(919-921)Ctt>Att	p.L307I	ZNF226_uc002oyp.3_Missense_Mutation_p.L307I|ZNF226_uc002oyq.3_Missense_Mutation_p.L190I|ZNF226_uc002oyr.3_Missense_Mutation_p.L190I|ZNF226_uc002oyt.3_Missense_Mutation_p.L307I	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGGAGAAAAACTTAAGTGTGA	0.433000														36			12		7.93312e-07	1.31442e-06	0.002450	1	0
MIER2	54531	broad.mit.edu	37	19	326591	326591	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:326591G>A	uc002lok.1	-	5	510	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R166C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAGCCAGGAAACGAGCTT	0.557000														47			31		0	0	0.007291	0	0
PIK3CG	5294	broad.mit.edu	37	7	106522626	106522626	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:106522626G>A	uc003vdv.4	+	6	2688	c.2603G>A	c.(2602-2604)gGt>gAt	p.G868D	PIK3CG_uc003vdu.3_Missense_Mutation_p.G868D|PIK3CG_uc003vdw.3_Missense_Mutation_p.G868D	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	868	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.Y867C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGCCATATGGTTGCATTTCA	0.378000														33			24		0	0	0.004656	0	0
DDX18	8886	broad.mit.edu	37	2	118575251	118575251	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:118575251A>G	uc002tlh.1	+	1	416	c.317A>G	c.(316-318)gAa>gGa	p.E106G		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	106							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCAATTCAGAATCAAAAAAG	0.353000														122			41		0	0	0.006230	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386440	56386440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:56386440C>T	uc002ivx.4	-	21	5064	c.4193G>A	c.(4192-4194)gGa>gAa	p.G1398E	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1338E|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1398E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1398						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAACTAATCCAGGCATGTC	0.647000														133			34		0	0	0.003271	0	0
ASIC2	40	broad.mit.edu	37	17	32483265	32483265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:32483265C>T	uc002hhu.3	-	0	561	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	96					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GAACCGGAAGCCATTCAGGTT	0.577000														32			39		0	0	0.006999	0	0
MTTP	4547	broad.mit.edu	37	4	100527972	100527972	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:100527972G>A	uc011cej.2	+	10	1506	c.1493G>A	c.(1492-1494)aGg>aAg	p.R498K	MTTP_uc003hvc.4_Missense_Mutation_p.R471K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	471	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAGGACACCAGGATGTATCTG	0.458000														33			18		0	0	0.006122	0	0
CD200	4345	broad.mit.edu	37	3	112054804	112054804	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:112054804A>G	uc003dyw.3	+	1	171	c.27A>G	c.(25-27)acA>acG	p.T9T	CD200_uc010hqd.1_Intron|CD200_uc003dyx.3_Intron|CD200_uc003dyz.3_Intron|CD200_uc003dyy.3_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	0					regulation of immune response	integral to plasma membrane		p.T9K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGACCAGGACAATTGGGGGCC	0.458000														71			70		0	0	0.003610	0	0
DEFB119	245932	broad.mit.edu	37	20	29965096	29965096	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:29965096C>T	uc002wvt.3	-	1	328	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	70					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCGGTATTTTCCTCTTTGCCA	0.488000														53			63		0	0	0.003610	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:7620949G>A	uc003bqm.2	+	7	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E786K|GRM7_uc003bql.2_Missense_Mutation_p.E786K|GRM7_uc003bqn.1_Missense_Mutation_p.E369K|GRM7_uc010hch.1_Missense_Mutation_p.E297K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAATTTTAACGAAGCCAAGCC	0.433000														23			38		0	0	0.003755	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435178	18435178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:18435178G>A	uc001rdt.3	+	1	279	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E55K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	55					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCACACTACGAGAGTGAAAT	0.398000														38			12		0	0	0.001368	0	0
DDHD1	80821	broad.mit.edu	37	14	53525280	53525281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:53525280_53525281GG>AA	uc001xai.3	-	8	2136_2137	c.1906_1907CC>TT	c.(1906-1908)cca>TTa	p.P636L	DDHD1_uc001xaj.3_Missense_Mutation_p.P643L|DDHD1_uc001xah.3_Missense_Mutation_p.P636L|DDHD1_uc001xag.3_Missense_Mutation_p.P218L|DDHD1_uc001xak.1_Missense_Mutation_p.P32L	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	636	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGTATTTCCTGGGCGGATGCCA	0.381000														40			15		0	0	0.004672	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219668	130219668	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:130219668C>T	uc004evz.3	+	7	1407	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	ARHGAP36_uc004ewa.3_Silent_p.I342I|ARHGAP36_uc004ewb.3_Silent_p.I323I|ARHGAP36_uc004ewc.3_Silent_p.I218I	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	354	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCATAAAATCACTGAGAACT	0.498000														222			75		0	0	0.003610	0	0
PRND	23627	broad.mit.edu	37	20	4705311	4705311	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:4705311G>A	uc021waf.1	+	0	114	c.114G>A	c.(112-114)aaG>aaA	p.K38K	PRND_uc002wkz.3_Silent_p.K38K	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	38	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGAACCGGAAGGCCCTGCCCA	0.617000														18			37		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179495596C>T	uc021vsy.1	-	186	36610	c.36385G>A	c.(36385-36387)Gaa>Aaa	p.E12129K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13056	Ig-like 80.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000														85			35		0	0	0.003271	0	0
CCDC102B	79839	broad.mit.edu	37	18	66542000	66542000	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:66542000T>G	uc002lkk.2	+	6	1254	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	CCDC102B_uc002lki.2_Missense_Mutation_p.V344G|CCDC102B_uc002lkj.1_Missense_Mutation_p.V344G	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	344										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAGACAGAGTGATTTGTGAG	0.338000														16			27		0	0	0.001786	0	0
ASXL3	80816	broad.mit.edu	37	18	31326518	31326518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:31326518G>A	uc010dmg.1	+	11	6761	c.6706G>A	c.(6706-6708)Ggt>Agt	p.G2236S	ASXL3_uc002kxq.2_Missense_Mutation_p.G1943S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGACTGCATAGGTCCTTCAAA	0.478000														33			51		0	0	0.003610	0	0
TEP1	7011	broad.mit.edu	37	14	20856222	20856222	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:20856222C>G	uc001vxe.3	-	18	2566	c.2526_splice	c.e18-1	p.K842_splice	TEP1_uc010ahk.3_Splice_Site_p.K192_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.K734_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	842					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGCAATGAACCTGACATAAA	0.468000														16			18		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	14	106653536	106653536	+	RNA	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:106653536C>T	uc021ser.1	-	1432		c.28707G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTTCCTGGAG	0.557000														135			38		0	0	0.006999	0	0
PRIC285	85441	broad.mit.edu	37	20	62194214	62194214	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:62194214G>A	uc002yfm.2	-	8	6853	c.5961C>T	c.(5959-5961)ttC>ttT	p.F1987F	PRIC285_uc002yfl.1_Silent_p.F1418F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1987					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCTCCAGGCGGAAGGCGCCCT	0.677000														27			4		0	0	0.000248	0	0
S1PR3	1903	broad.mit.edu	37	9	91616371	91616371	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:91616371C>T	uc022bjm.1	+	0	256	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	S1PR3_uc004aqe.3_Silent_p.L86L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	86					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCTCTGCGACCTGCTGGCCGG	0.493000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			74		0	0	0.003610	0	0
GLRB	2743	broad.mit.edu	37	4	158074155	158074155	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:158074155C>T	uc003ipj.2	+	8	1392	c.1190C>T	c.(1189-1191)aCt>aTt	p.T397I	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.T397I	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	397					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CATATTAGCACTTTGCAGGTA	0.408000														8			7		0	0	0.001984	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713840	70713840	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:70713840C>T	uc010ttg.2	-	0	679	c.28G>A	c.(28-30)Gta>Ata	p.V10I						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TGGCGTGCTACTTCCTTCTCT	0.458000														41			17		0	0	0.004007	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235797	132235797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:132235797G>A	uc002tsu.4	+	1	257	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	22					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGCCTGCTGGGAACTGTACTG	0.512000														70			65		0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130300460	130300460	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:130300460G>A	uc010htl.3	+	7	3634	c.3603G>A	c.(3601-3603)caG>caA	p.Q1201Q	COL6A6_uc003eni.4_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1201	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAAGGGCAGACTTTGCTTG	0.463000														69			29		0	0	0.002445	0	0
KIF1C	10749	broad.mit.edu	37	17	4927149	4927149	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:4927149C>T	uc002gan.2	+	22	3372	c.3015C>T	c.(3013-3015)ccC>ccT	p.P1005P		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGCTCCAACCCCCTGAGGAGG	0.687000														37			36		0	0	0.003271	0	0
ENTPD4	9583	broad.mit.edu	37	8	23294584	23294584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:23294584G>A	uc003xdl.3	-	9	1509	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	ENTPD4_uc011kzu.1_Missense_Mutation_p.L405F|ENTPD4_uc003xdm.3_Missense_Mutation_p.L405F|ENTPD4_uc011kzv.1_Missense_Mutation_p.L413F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	413					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACCCCATTGAGGGAAGTCTGG	0.478000														56			50		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92564905	92564905	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:92564905C>T	uc001pdj.4	+	12	9616	c.9599C>T	c.(9598-9600)tCg>tTg	p.S3200L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3200	Cadherin 29.				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)				CAGCAGTCTTCGTACAACATC	0.562000										TCGA Ovarian(4;0.039)				320			21		0	0	0.002780	0	0
KLHL4	56062	broad.mit.edu	37	X	86873070	86873070	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:86873070G>A	uc004efa.2	+	3	1045	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	KLHL4_uc004efb.2_Missense_Mutation_p.R288Q	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTAGGGATTCGATCATTTGGA	0.418000														44			12		0	0	0.002450	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072167	34072167	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:34072167C>T	uc002hjv.2	-	5	2377	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	783					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTGGTCTCTCCGGGGCCGAA	0.612000														149			46		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315749	30315749	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:30315749G>A	uc009xle.2	-	2	3465	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*	KIAA1462_uc001iux.3_Nonsense_Mutation_p.Q1110*|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Nonsense_Mutation_p.Q972*	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1110										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGCAGGCTGGTTCTGTCCC	0.657000														20			62		0	0	0.003610	0	0
C1RL	51279	broad.mit.edu	37	12	7254617	7254617	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:7254617G>A	uc001qsn.3	-	2	460	c.367C>T	c.(367-369)Cct>Tct	p.P123S	C1RL_uc009zft.3_Missense_Mutation_p.P123S|C1RL_uc001qso.2_Missense_Mutation_p.P123S	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	123	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGACCAGGGGGCCTGCCC	0.592000														122			53		0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130776	117130776	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:117130776C>T	uc003pxj.1	-	1	221	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E67K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E67K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	67					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTGATATTTCAAAGCTGTTG	0.363000														9			25		0	0	0.004656	0	0
MAP1B	4131	broad.mit.edu	37	5	71494859	71494859	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:71494859G>A	uc003kbw.4	+	4	5918	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1910K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1767K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1767K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1893						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTTATGAGAAGACCAC	0.463000														62			19		0	0	0.008871	0	0
SP140	11262	broad.mit.edu	37	2	231134668	231134668	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:231134668G>A	uc002vql.3	+	14	1559	c.1444_splice	c.e14+1	p.D482_splice	SP140_uc010zma.1_Splice_Site|SP140_uc002vqn.3_Splice_Site_p.D368_splice|SP140_uc002vqm.3_Splice_Site_p.D422_splice|SP140_uc010fxl.3_Splice_Site_p.D455_splice	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	482					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCACAATGGGTAAGGCTGT	0.542000														34			13		0	0	0.003163	0	0
IFIH1	64135	broad.mit.edu	37	2	163134154	163134154	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:163134154C>T	uc002uce.3	-	9	2037	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	605					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CATTGTACTTCCTCAAATGTT	0.328000														62			22		0	0	0.001882	0	0
CHMP2B	25978	broad.mit.edu	37	3	87294927	87294927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:87294927C>T	uc003dqp.4	+	2	450	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	CHMP2B_uc011bgn.2_Nonsense_Mutation_p.Q23*	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	64					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.Q64Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTTAGCCAAACAACTTGTGCA	0.313000														30			28		0	0	0.005443	0	0
ANK3	288	broad.mit.edu	37	10	61835611	61835611	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:61835611C>T	uc001jky.3	-	36	5366	c.5028G>A	c.(5026-5028)aaG>aaA	p.K1676K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1676	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACACCACTGACTTTAAAGGTG	0.413000														14			42		0	0	0.003610	0	0
RASAL2	9462	broad.mit.edu	37	1	178411966	178411966	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:178411966G>A	uc001glq.3	+	7	1848	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	RASAL2_uc001glr.3_Missense_Mutation_p.E214K	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	214	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTTCTGGGGCGAACATTTTGA	0.383000														81			23		0	0	0.003330	0	0
KNDC1	85442	broad.mit.edu	37	10	134981777	134981777	+	Silent	SNP	C	T	T	rs79557483	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:134981777C>T	uc001llz.1	+	2	322	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KNDC1_uc001lma.1_Silent_p.F42F	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	107	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGGTGCCTTCGTTCCCCCCG	0.597000														27			71		0	0	0.003610	0	0
BAHCC1	57597	broad.mit.edu	37	17	79429066	79429066	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:79429066C>T	uc002kaf.2	+	24	7191	c.7191C>T	c.(7189-7191)ccC>ccT	p.P2397P	BAHCC1_uc002kae.2_Silent_p.P1689P	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2459							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CGGGGAATCCCACACAGGTAG	0.662000														24			15		0	0	0.004007	0	0
BRD4	23476	broad.mit.edu	37	19	15350537	15350537	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:15350537G>A	uc002nar.3	-	15	3600	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1126					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCAGCGAGGGGCTGAAGGGCT	0.697000			T	C15orf55	lethal midline carcinoma of young people									54			19		0	0	0.007413	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														506			36		0	0	0.003610	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794749	124794749	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:124794749A>T	uc001qbk.3	-	1	708	c.302T>A	c.(301-303)cTc>cAc	p.L101H	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.L101H	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	101	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R100Q(1)|p.R100*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATTTTCAAAGAGTCGGATACG	0.592000														86			7		0	0	0.001984	0	0
FBN1	2200	broad.mit.edu	37	15	48807600	48807600	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48807600G>A	uc001zwx.2	-	11	1847	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	484	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCCCCACGGAGGTCCAGCT	0.502000														21			43		0	0	0.003610	0	0
LARS2	23395	broad.mit.edu	37	3	45537800	45537800	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:45537800G>A	uc003cop.1	+	13	1742	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	LARS2_uc010hit.1_Silent_p.T476T	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	519					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGACAGACACGATGGATACCT	0.393000														137			39		0	0	0.004878	0	0
GLI4	2738	broad.mit.edu	37	8	144358717	144358717	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:144358717G>A	uc003yxx.3	+	3	959	c.874G>A	c.(874-876)Gag>Aag	p.E292K	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	292						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACACGGGTGAGAAGCCCTA	0.657000														8			8		0	0	0.003080	0	0
CDADC1	81602	broad.mit.edu	37	13	49860415	49860415	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:49860415G>A	uc001vcu.3	+	8	1595	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	CDADC1_uc021rjm.1_Missense_Mutation_p.E490K|CDADC1_uc010tgk.2_Missense_Mutation_p.E292K|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	490							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGAAAGGAGAGAAAGTAAGTA	0.353000														34			33		0	0	0.004878	0	0
APBA3	9546	broad.mit.edu	37	19	3759875	3759875	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3759875C>T	uc002lyp.1	-	1	565	c.388G>A	c.(388-390)Gag>Aag	p.E130K	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	130					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAGAGGCTCTTCAGGACCA	0.647000														79			22		0	0	0.003954	0	0
PC	5091	broad.mit.edu	37	11	66638662	66638662	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:66638662G>A	uc001ojn.1	-	4	543	c.494C>T	c.(493-495)cCc>cTc	p.P165L	PC_uc001ojo.1_Missense_Mutation_p.P165L|PC_uc001ojp.1_Missense_Mutation_p.P165L	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	165	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGGACAACGGGAACACCTGT	0.632000														16			35		0	0	0.003271	0	0
SUN1	23353	broad.mit.edu	37	7	881763	881763	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:881763C>T	uc021zym.1	+	2	467	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SUN1_uc021zyl.1_Silent_p.F149F|SUN1_uc010ksa.1_Silent_p.F170F|SUN1_uc003sje.1_Silent_p.F149F|SUN1_uc011jvq.2_Silent_p.F149F|SUN1_uc003sjf.3_Silent_p.F99F|SUN1_uc003sjg.3_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	149					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGACCACTTCTGGGGTGAGT	0.587000														15			23		0	0	0.004656	0	0
OR2F1	26211	broad.mit.edu	37	7	143657601	143657601	+	Missense_Mutation	SNP	G	A	A	rs112027056		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143657601G>A	uc003wds.1	+	0	582	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CATATCCTGTGAACTCCTAGC	0.502000														28			42		0	0	0.007835	0	0
NIN	51199	broad.mit.edu	37	14	51227046	51227046	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:51227046G>A	uc001wyi.3	-	16	2119	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.T643I|NIN_uc001wyk.3_Missense_Mutation_p.T643I|NIN_uc001wyo.3_Missense_Mutation_p.T643I	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	643					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTGACCACGGTTTCGTCCAG	0.453000			T	PDGFRB	MPD									54			22		0	0	0.002299	0	0
SRCIN1	80725	broad.mit.edu	37	17	36720422	36720422	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:36720422C>T	uc002hqd.3	-	3	698	c.473G>A	c.(472-474)aGg>aAg	p.R158K	SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_Missense_Mutation_p.R12K|SRCIN1_uc002hqh.1_Missense_Mutation_p.R218K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	0					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGTTCATCCTGCTGAAGCC	0.701000														7			3		0	0	0.004672	0	0
ANKRD17	26057	broad.mit.edu	37	4	73962883	73962883	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:73962883G>C	uc003hgp.3	-	26	5245	c.5128C>G	c.(5128-5130)Cct>Gct	p.P1710A	ANKRD17_uc003hgo.3_Missense_Mutation_p.P1597A|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1459A|ANKRD17_uc003hgr.3_Missense_Mutation_p.P1709A	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1710					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCACGCTTAGGACTTGCTACT	0.388000														97			38		0	0	0.002222	0	0
TRHR	7201	broad.mit.edu	37	8	110131468	110131468	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110131468C>T	uc003ymz.4	+	1	1070	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	327						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCAGAAATTCCGTGCAGCCT	0.443000														98			36		0	0	0.003755	0	0
DDX51	317781	broad.mit.edu	37	12	132626121	132626121	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:132626121G>A	uc001ujy.4	-	6	1065	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	342	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGGCTACCACGATGTCAGCCA	0.637000														28			28		0	0	0.003271	0	0
SV2C	22987	broad.mit.edu	37	5	75591654	75591654	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:75591654C>T	uc003kei.1	+	8	1523	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	463					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTCTGCAGTCCGATGAATATG	0.373000														56			68		0	0	0.003610	0	0
NWD1	284434	broad.mit.edu	37	19	16899909	16899909	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:16899909G>A	uc002neu.4	+	12	3270	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	NWD1_uc002net.4_Missense_Mutation_p.D815N|NWD1_uc002nev.4_Missense_Mutation_p.D744N|NWD1_uc021uqg.1_Missense_Mutation_p.D815N	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	950							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCATTTGGGATGGAGGCTC	0.458000														51			26		0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82580169	82580169	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:82580169G>A	uc003uhx.2	-	5	10024	c.9735C>T	c.(9733-9735)ttC>ttT	p.F3245F	PCLO_uc003uhv.2_Silent_p.F3245F|PCLO_uc010lec.3_Silent_p.F210F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3176	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTTCTCGGAACCTTTGAA	0.473000														43			67		0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39262547	39262547	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:39262547A>G	uc001uwv.3	+	0	1375	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	356					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACCTGTTGATCTTCAACCT	0.577000														61			26		0	0	0.003330	0	0
KDM5C	8242	broad.mit.edu	37	X	53240720	53240720	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:53240720G>A	uc004drz.3	-	9	1893	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	KDM5C_uc022bxe.1_Missense_Mutation_p.P387S|KDM5C_uc004dsa.3_Missense_Mutation_p.P453S	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCACTGACAGGGAAACCGCTG	0.473000			"""N, F, S"""		clear cell renal carcinoma									37			16		0	0	0.006122	0	0
CCDC150	284992	broad.mit.edu	37	2	197521390	197521390	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:197521390C>T	uc002utp.1	+	2	345	c.210C>T	c.(208-210)gaC>gaT	p.D70D	CCDC150_uc002uto.1_Silent_p.D70D|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	70										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTTAGAAGACCTGGACAGCC	0.368000														16			10		0	0	0.008291	0	0
WASL	8976	broad.mit.edu	37	7	123334878	123334878	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:123334878A>G	uc003vkz.3	-	7	1045	c.717T>C	c.(715-717)tgT>tgC	p.C239C		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	239					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGATTCCACACATATCGA	0.299000														158			40		0	0	0.002522	0	0
CSMD1	64478	broad.mit.edu	37	8	3245065	3245065	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:3245065G>A	uc022aqr.1	-	17	3123	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	CSMD1_uc011kwj.2_Silent_p.L304L|CSMD1_uc003wqe.3_Silent_p.L68L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	912	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCACAGACGAGGGGCTCGT	0.602000														4			10		0	0	0.006214	0	0
DRD2	1813	broad.mit.edu	37	11	113286293	113286293	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:113286293G>A	uc001pnz.3	-	3	894	c.573C>T	c.(571-573)gtC>gtT	p.V191V	DRD2_uc010rwv.2_Silent_p.V190V|DRD2_uc001poa.4_Silent_p.V191V|DRD2_uc001pob.4_Silent_p.V191V|DRD2_uc009yyr.1_Silent_p.V191V	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	191	Agonist binding (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGAGGAGTAGACCACGAAGG	0.597000														18			8		0	0	0.003080	0	0
UTP6	55813	broad.mit.edu	37	17	30222019	30222019	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:30222019A>C	uc002hgr.3	-	2	272	c.189T>G	c.(187-189)aaT>aaG	p.N63K	UTP6_uc010wbw.1_Missense_Mutation_p.N63K	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	63					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GCTCCAAAAGATTAATTTCAT	0.289000														19			10		0	0	0.001855	0	0
NR1D2	9975	broad.mit.edu	37	3	24001236	24001236	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:24001236G>T	uc003ccs.2	+	3	766	c.447G>T	c.(445-447)atG>atT	p.M149I	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.M74I	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	149					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GTTCTATAATGAGAATGAATA	0.368000														61			21		1.15919e-05	1.91767e-05	0.008871	1	0
CXorf41	139212	broad.mit.edu	37	X	106466000	106466001	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:106466000_106466001GT>AA	uc004end.3	+	5	695_696	c.358_359GT>AA	c.(358-360)gtg>AAg	p.V120K	CXorf41_uc004enc.3_Missense_Mutation_p.V120K	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	120										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						CAGACAGCAGGTGGGAACTGAA	0.376000														108			25		0	0	0.004672	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:26045730C>T	uc003nfv.3	+	0	92	c.92C>T	c.(91-93)cCg>cTg	p.P31L	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	31					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AAGAGCGCTCCGGCCACCGGT	0.612000														44			31		0	0	0.008361	0	0
MAN2B2	23324	broad.mit.edu	37	4	6612845	6612845	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6612845C>T	uc003gjf.1	+	14	2439	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	MAN2B2_uc003gje.1_Silent_p.F801F|MAN2B2_uc011bwf.1_Silent_p.F750F	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	801					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGAACAACTTCGACTGGGACC	0.657000														19			11		0	0	0.008291	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327576	69327576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:69327576G>A	uc003hdz.4	+	1	113	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	17					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTTGTTGGGAACCCTGGGT	0.418000														155			103		0	0	0.003610	0	0
C5orf48	389320	broad.mit.edu	37	5	125968322	125968322	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:125968322G>A	uc003kub.1	+	1	184	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	57										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AAGAAAACATGATATTCAGGA	0.378000														20			6		0	0	0.001168	0	0
TTC7A	57217	broad.mit.edu	37	2	47249053	47249053	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:47249053C>T	uc010fbb.3	+	11	1813	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	TTC7A_uc002rvm.3_Missense_Mutation_p.A448V|TTC7A_uc002rvn.1_Missense_Mutation_p.A363V|TTC7A_uc002rvo.3_Missense_Mutation_p.A482V|TTC7A_uc010fbc.3_Missense_Mutation_p.A128V|TTC7A_uc002rvp.3_Missense_Mutation_p.A363V|TTC7A_uc002rvq.3_Missense_Mutation_p.A222V|TTC7A_uc002rvr.3_Intron	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	482							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAGAGGAAGCCGGGGAGTTC	0.607000														47			45		0	0	0.002852	0	0
DSG4	147409	broad.mit.edu	37	18	28989470	28989470	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:28989470G>A	uc002kwr.2	+	12	2124	c.1989G>A	c.(1987-1989)ctG>ctA	p.L663L	DSG4_uc002kwq.2_Silent_p.L663L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	663					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAAGGCCTGGGAACAAGAT	0.542000														90			40		0	0	0.006230	0	0
FGFR2	2263	broad.mit.edu	37	10	123276957	123276957	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:123276957C>T	uc021pzz.1	-	7	1607	c.960G>A	c.(958-960)acG>acA	p.T320T	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Silent_p.T205T|FGFR2_uc021pzx.1_Silent_p.T231T|FGFR2_uc021pzy.1_Intron|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Silent_p.T205T|FGFR2_uc021qaa.1_Intron|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.T339T|FGFR2_uc010qto.2_Silent_p.T224T|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.4_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	320	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCTCTTTGTCCGTGGTGTTAA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					8			21		0	0	0.001882	0	0
CASP1	834	broad.mit.edu	37	11	104971399	104971399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:104971399C>T	uc001pir.1	-	1	132	c.115G>A	c.(115-117)Gag>Aag	p.E39K	CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron	NM_001007232	NP_001007233	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA.	39	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ATCTCTATCTCTTCCTGGCTC	0.448000														100			8		0	0	0.003080	0	0
C2orf44	80304	broad.mit.edu	37	2	24260573	24260573	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:24260573G>A	uc002rep.2	-	1	1923	c.1792C>T	c.(1792-1794)Ctt>Ttt	p.L598F	C2orf44_uc010eya.2_Missense_Mutation_p.L598F	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	598							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATAAGGAAGATCTTGAGAG	0.413000			T	ALK	NSCLC									74			23		0	0	0.002780	0	0
HYDIN	54768	broad.mit.edu	37	16	71015463	71015463	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:71015463G>A	uc002ezr.3	-	28	4489	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1447										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATGTGAACTGATAAAGCCCT	0.413000														106			26		0	0	0.008361	0	0
MMP15	4324	broad.mit.edu	37	16	58074457	58074457	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:58074457G>A	uc002ena.3	+	4	1738	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	255					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCTCTTCCTGGTGGCAGTGC	0.612000														41			26		0	0	0.006320	0	0
GCLC	2729	broad.mit.edu	37	6	53370239	53370239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:53370239G>A	uc003pbw.2	-	11	1830	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	GCLC_uc003pbv.1_Missense_Mutation_p.T173I|GCLC_uc021zau.1_Missense_Mutation_p.T411I	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	449					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GATCACTCTGGTGAGCAGTAC	0.393000														12			11		0	0	0.001855	0	0
PRRT2	112476	broad.mit.edu	37	16	29825857	29825857	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:29825857C>T	uc002dud.2	+	2	1384	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Intron|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	76					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TAACCCCTGcccctgctctct	0.587000														22			9		0	0	0.004482	0	0
ZBED1	9189	broad.mit.edu	37	X	2406965	2406965	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:2406965G>A	uc022brx.1	-	0	1796	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P599L|ZBED1_uc004cqg.2_Missense_Mutation_p.P599L|ZBED1_uc022brw.1_Missense_Mutation_p.P599L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	599						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCAGCAGGGGGAAGAGGGC	0.652000														141			50		0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48376722	48376722	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:48376722C>T	uc001rqu.3	-	32	2283	c.2102G>A	c.(2101-2103)cGa>cAa	p.R701Q	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.R632Q	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	701	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.D700D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGAAACCTCGTTCACCCTG	0.622000														28			24		0	0	0.003330	0	0
RSF1	51773	broad.mit.edu	37	11	77383160	77383160	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:77383160G>A	uc001oyn.3	-	14	3798	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S	RSF1_uc001oym.3_Silent_p.S974S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1226	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.G1225C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AACTCTTCTGGGAACCGTCAC	0.413000														158			12		0	0	0.001855	0	0
OR4N5	390437	broad.mit.edu	37	14	20612005	20612005	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:20612005C>T	uc010tla.2	+	0	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	37					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)		TCTACCTTATCATCCTCCCTG	0.453000														112			99		0	0	0.003610	0	0
DHX16	8449	broad.mit.edu	37	6	30627338	30627338	+	Missense_Mutation	SNP	G	A	A	rs143108219		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:30627338G>A	uc003nqz.3	-	11	2130	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	DHX16_uc003nqy.3_Missense_Mutation_p.R159W|DHX16_uc011dmo.2_Missense_Mutation_p.R580W	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	640	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						AGGAGCTCCCGGATTTTGGAG	0.612000														22			13		0	0	0.001368	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:101583122C>T	uc003knm.3	-	9	1932	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	549	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299000														102			34		0	0	0.004878	0	0
AASDH	132949	broad.mit.edu	37	4	57209809	57209809	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:57209809G>A	uc003hbn.3	-	12	2847	c.2694C>T	c.(2692-2694)gtC>gtT	p.V898V	AASDH_uc010ihb.3_Silent_p.V413V|AASDH_uc003hbo.3_Silent_p.V798V|AASDH_uc011caa.2_Missense_Mutation_p.L691F|AASDH_uc011cab.2_Silent_p.V413V|AASDH_uc010ihc.3_Intron	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	898					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding	p.V898F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAGAGGAAAAGACAGTTCCTC	0.348000														13			8		0	0	0.006214	0	0
GLI3	2737	broad.mit.edu	37	7	42088243	42088243	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:42088243T>C	uc011kbh.2	-	4	617	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	GLI3_uc011kbg.2_Missense_Mutation_p.I117V	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	176					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGGGGAGATCCTAATGAAG	0.512000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					56			20		0	0	0.007413	0	0
LSM6	11157	broad.mit.edu	37	4	147108513	147108513	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:147108513G>A	uc003ikq.4	+	2	321	c.182G>A	c.(181-183)gGg>gAg	p.G61E	LSM6_uc003ikp.4_Non-coding_Transcript	NM_007080	NP_009011	P62312	LSM6_HUMAN	Homo sapiens LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM6), mRNA.	61					RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|rRNA processing|tRNA processing	cytosol|small nuclear ribonucleoprotein complex	RNA binding|protein binding					all_hematologic(180;0.151)					AATAAGTATGGGGATGCATTT	0.413000														22			8		0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27802108	27802109	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:27802108_27802109CC>TT	uc002rkz.4	+	0	2720_2721	c.2669_2670CC>TT	c.(2668-2670)tcc>tTT	p.S890F		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	890										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAATATCTCTCCACTATGCTAA	0.460000														94			35		0	0	0.004672	0	0
GAA	2548	broad.mit.edu	37	17	78090819	78090819	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:78090819G>A	uc002jxp.3	+	15	2609	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	GAA_uc002jxo.3_Missense_Mutation_p.E748K|GAA_uc002jxq.3_Missense_Mutation_p.E748K	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	748					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCTGTGGGGGGAGGCCCTGCT	0.632000														50			11		0	0	0.001368	0	0
MYH14	79784	broad.mit.edu	37	19	50775127	50775127	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:50775127C>T	uc010enu.1	+	25	3240	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	MYH14_uc002prq.1_Missense_Mutation_p.R1032C|MYH14_uc002prr.1_Missense_Mutation_p.R1024C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1024					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGAAGATCGTCTGGCCGA	0.582000														17			4		0	0	0.000602	0	0
EIF2C1	26523	broad.mit.edu	37	1	36367133	36367133	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:36367133C>T	uc001bzl.3	+	8	1292	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	EIF2C1_uc001bzk.3_Missense_Mutation_p.S285L|EIF2C1_uc009vuy.3_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	360					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACCAGACCTCGACCATGATA	0.527000														50			24		0	0	0.002299	0	0
HIPK1	204851	broad.mit.edu	37	1	114483987	114483987	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:114483987C>T	uc001eem.3	+	1	1143	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HIPK1_uc001eel.3_Missense_Mutation_p.R328C|HIPK1_uc001een.3_Missense_Mutation_p.R328C	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	328	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		TGATCCAGTTCGCCAGCCCTA	0.493000														214			48		0	0	0.003610	0	0
TMEM184B	25829	broad.mit.edu	37	22	38622800	38622800	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:38622800C>T	uc003avf.1	-	5	827	c.603G>A	c.(601-603)cgG>cgA	p.R201R	TMEM184B_uc003avh.2_Silent_p.R135R|TMEM184B_uc003avg.2_Silent_p.R201R|TMEM184B_uc010gxl.2_Intron|TMEM184B_uc021wpo.1_5'Flank	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	201						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AGTCCCCATCCCGGTACTTGC	0.637000														3			14		0	0	0.002450	0	0
RCC1	1104	broad.mit.edu	37	1	28858821	28858821	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:28858821C>T	uc001bqb.2	+	6	799	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	RCC1_uc001bqa.2_Missense_Mutation_p.L134F|RCC1_uc001bqc.2_Missense_Mutation_p.L134F|RCC1_uc001bqe.2_Missense_Mutation_p.L151F|RCC1_uc001bqf.2_Missense_Mutation_p.L165F|RCC1_uc001bqg.2_Missense_Mutation_p.L134F	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	134					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGCAGCCCTCACCGATGA	0.577000														32			10		0	0	0.008291	0	0
SRCAP	10847	broad.mit.edu	37	16	30740755	30740755	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:30740755C>T	uc002dze.1	+	26	6374	c.5989C>T	c.(5989-5991)Cct>Tct	p.P1997S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1792S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1997					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACCCACCTCCTTGGCTGGC	0.592000														40			33		0	0	0.001786	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751440	10751440	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:10751440G>A	uc003mzk.4	+	3	339	c.175G>A	c.(175-177)Gat>Aat	p.D59N	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.3_Intron|TMEM14B_uc010jos.1_Intron	NM_030969	NP_112231	Q9NUH8	TM14B_HUMAN	Homo sapiens transmembrane protein 14B (TMEM14B), transcript variant 1, mRNA.	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGTATCAGGATCCAAGGAA	0.537000														73			61		0	0	0.003610	0	0
FUT7	2529	broad.mit.edu	37	9	139925179	139925179	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:139925179C>T	uc004ckq.2	-	1	1861	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	ABCA2_uc022bpy.1_5'Flank|ABCA2_uc022bpz.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	338					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.E337Q(1)		NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGAAACCAACCCTCAAGGTCC	0.627000														31			16		0	0	0.008871	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:37269359C>T	uc001uvt.4	+	1	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SERTM1_uc021rii.1_Silent_p.F48F	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000														96			92		0	0	0.003610	0	0
EEF1G	1937	broad.mit.edu	37	11	62327658	62327658	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:62327658G>A	uc001ntm.1	-	8	1184	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	EEF1G_uc010rlw.1_Silent_p.F396F	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	346	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAGTCGCTGGAACATTCCTG	0.512000														26			8		0	0	0.004482	0	0
MSRA	4482	broad.mit.edu	37	8	10285790	10285791	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:10285790_10285791GG>AA	uc003wsx.3	+	5	873_874	c.676_677GG>AA	c.(676-678)ggc>AAc	p.G226N	MSRA_uc011kwx.2_Missense_Mutation_p.G186N|MSRA_uc003wsy.3_Missense_Mutation_p.G160N|MSRA_uc003wsz.3_Missense_Mutation_p.G183N	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	226					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGGGGGCACCGGCGTGTCCTGC	0.515000														30			34		0	0	0.004672	0	0
FOXN1	8456	broad.mit.edu	37	17	26861510	26861510	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:26861510G>A	uc010crm.3	+	6	1287	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	FOXN1_uc002hbj.3_Nonsense_Mutation_p.W363*	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	363					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGCAAAAATGGAAGAGGAAAG	0.567000														36			12		0	0	0.001368	0	0
CENPE	1062	broad.mit.edu	37	4	104079935	104079935	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:104079935G>T	uc003hxb.1	-	22	2800	c.2710C>A	c.(2710-2712)Caa>Aaa	p.Q904K	CENPE_uc003hxc.1_Missense_Mutation_p.Q879K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	904					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTACAGTTTGCAGCGTAGAA	0.358000														24			18		6.94344e-10	1.15401e-09	0.006122	1	0
CPA1	1357	broad.mit.edu	37	7	130025088	130025088	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:130025088G>A	uc003vpx.3	+	7	961	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	CPA1_uc003vpw.2_Missense_Mutation_p.G131R	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	297					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAAGGACCATGGGAACATCAA	0.527000														52			19		0	0	0.007413	0	0
CSMD2	114784	broad.mit.edu	37	1	34037281	34037281	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:34037281C>T	uc001bxm.1	-	50	7985	c.7808G>A	c.(7807-7809)cGa>cAa	p.R2603Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R2605Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2605	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCTCCATCGGCCATGCTC	0.483000														33			27		0	0	0.008361	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254232	161254232	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:161254232C>T	uc001gad.3	+	2	416	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	56	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGCAAGTTCCGGCGATTTC	0.527000														25			57		0	0	0.003610	0	0
RBM12	10137	broad.mit.edu	37	20	34241641	34241641	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:34241641G>A	uc021wcr.1	-	0	1604	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P535L|RBM12_uc002xds.3_Missense_Mutation_p.P535L|RBM12_uc002xdr.3_Missense_Mutation_p.P535L|RBM12_uc021wcq.1_Missense_Mutation_p.P535L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	535						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCCCCCTCTGGATTTAGTAT	0.393000														197			62		0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186088327	186088327	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:186088327A>G	uc001grq.1	+	77	12082	c.11853A>G	c.(11851-11853)gcA>gcG	p.A3951A	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3951	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A3951V(1)		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						TTTTAGGAGCAATTGAAATAC	0.368000														103			30		0	0	0.007291	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:158548760C>T	uc010pin.2	-	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000														101			68		0	0	0.003610	0	0
SRPK1	6732	broad.mit.edu	37	6	35838101	35838101	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:35838101G>A	uc003olj.3	-	9	1072	c.948C>T	c.(946-948)ccC>ccT	p.P316P	SRPK1_uc003olh.3_Silent_p.P209P|SRPK1_uc003oli.3_Silent_p.P209P|SRPK1_uc011dtg.2_Silent_p.P300P	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	316	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCTCTTTCAAGGGTCTTTCAA	0.383000														22			15		0	0	0.007413	0	0
PPEF1	5475	broad.mit.edu	37	X	18836172	18836172	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:18836172A>T	uc004cyq.3	+	15	1891	c.1410A>T	c.(1408-1410)gaA>gaT	p.E470D	PPEF1_uc004cyp.3_Missense_Mutation_p.E442D|PPEF1_uc004cyr.3_Missense_Mutation_p.E408D|PPEF1_uc004cys.3_Missense_Mutation_p.E470D|PPEF1_uc011mja.2_Missense_Mutation_p.E405D|PPEF1_uc011mjb.2_Missense_Mutation_p.E414D	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	470					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.E470E(2)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATACTATGGAAAACAGCGCCA	0.328000														57			53		0	0	0.003610	0	0
CSK	1445	broad.mit.edu	37	15	75094397	75094397	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:75094397C>T	uc010bkb.1	+	12	1326	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	CSK_uc002ays.2_Silent_p.S381S|CSK_uc010bkc.1_Silent_p.S190S	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	381	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AAATCTACTCCTTTGGGCGAG	0.542000														89			29		0	0	0.002836	0	0
APOB	338	broad.mit.edu	37	2	21249788	21249788	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:21249788C>A	uc002red.3	-	14	2244	c.2116G>T	c.(2116-2118)Ggg>Tgg	p.G706W		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	706					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTTGCTTCCCAAAAAGAGCT	0.423000														382			7		0.000673444	0.00110556	0.008291	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219741	4219741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4219741G>A	uc010dtt.1	+	18	3433	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1053										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGGCCAAGGAGAAGGACAA	0.647000														44			20		0	0	0.008871	0	0
PLXND1	23129	broad.mit.edu	37	3	129291459	129291459	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:129291459C>T	uc003emx.2	-	14	3170	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1024	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TACATCAGCTCCGTGCAGGGG	0.637000														17			15		0	0	0.004007	0	0
COL9A3	1299	broad.mit.edu	37	20	61449889	61449889	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:61449889G>A	uc002ydm.3	+	2	170	c.167G>A	c.(166-168)gGt>gAt	p.G56D		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	56	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTCCTCCAGGTCTGCCTGGG	0.582000														91			26		0	0	0.003954	0	0
MEX3C	51320	broad.mit.edu	37	18	48703834	48703835	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:48703834_48703835GG>AA	uc002lfc.4	-	1	1227_1228	c.866_867CC>TT	c.(865-867)gcc>gTT	p.A289V		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	289	KH 1.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCTCTCTTTTGGCCATGGCAAC	0.465000														55			19		0	0	0.004672	0	0
PCDH19	57526	broad.mit.edu	37	X	99662087	99662087	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:99662087G>A	uc010nmz.3	-	0	3185	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PCDH19_uc004efw.4_Silent_p.F503F|PCDH19_uc004efx.4_Silent_p.F503F	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGACATAGGTGAAGACAGGCA	0.582000														67			79		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141752634	141752634	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:141752634C>T	uc003vwy.3	+	25	3063	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1003					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGACCTATACTCTGTCAGTG	0.458000														116			33		0	0	0.005524	0	0
FMO4	2329	broad.mit.edu	37	1	171310800	171310800	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:171310800G>A	uc001gho.3	+	9	1716	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	500					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.R500Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAACTCGAATTGTCCCT	0.478000														24			22		0	0	0.001882	0	0
ARSF	416	broad.mit.edu	37	X	3030423	3030423	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:3030423G>A	uc022brz.1	+	10	1735	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	ARSF_uc004cre.2_Silent_p.K533K|ARSF_uc004crf.2_Silent_p.K533K	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	533						extracellular region	arylsulfatase activity|metal ion binding	p.K533K(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATTAAAAAGGTGGCCAACG	0.562000														84			42		0	0	0.007835	0	0
SALL1	6299	broad.mit.edu	37	16	51171098	51171098	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:51171098C>T	uc021tif.1	-	2	3931	c.3609G>A	c.(3607-3609)atG>atA	p.M1203I	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.M152I	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1300					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACTGCTTGCCATTTTCTCCA	0.582000														51			21		0	0	0.002299	0	0
CTBS	1486	broad.mit.edu	37	1	85035652	85035652	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:85035652T>A	uc001dka.2	-	2	552	c.487A>T	c.(487-489)Act>Tct	p.T163S	CTBS_uc001dkc.3_Missense_Mutation_p.T72S|CTBS_uc001dkb.2_Intron	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	163						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GAGTCTGTAGTTTCTTTGACT	0.323000														39			20		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179433686	179433686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179433686C>T	uc021vsy.1	-	274	69694	c.69469G>A	c.(69469-69471)Gat>Aat	p.D23157N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D16852N|TTN_uc021vta.1_Missense_Mutation_p.D16785N|TTN_uc021vtb.1_Missense_Mutation_p.D16660N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24084	Ig-like 118.						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)			CTGCCACCATCATGTTCAGGT	0.418000														91			87		0	0	0.003610	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726177	168726177	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:168726177G>T	uc021vsc.1	+	0	628	c.628G>T	c.(628-630)Gga>Tga	p.G210*	B3GALT1_uc002udz.1_Nonsense_Mutation_p.G210*	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	210					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGTCATTAATGGAGGACCGAT	0.438000														45			14		0.000151284	0.000249503	0.001855	1	0
MYO9B	4650	broad.mit.edu	37	19	17306107	17306107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17306107C>T	uc010eak.3	+	21	4023	c.3871C>T	c.(3871-3873)Ccc>Tcc	p.P1291S	MYO9B_uc002nfi.3_Missense_Mutation_p.P1291S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1291S|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1291	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCCGACAGCCCCGGAGGCTC	0.711000														35			28		0	0	0.008361	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570277	30570277	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:30570277G>A	uc003nqn.1	-	18	2701	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	PPP1R10_uc010jsc.1_Missense_Mutation_p.P371S	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	717	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggaggaggaggTTCG	0.677000														32			24		0	0	0.002299	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783186	1783186	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:1783186G>A	uc002ltw.3	-	28	3978	c.3744C>T	c.(3742-3744)cgC>cgT	p.R1248R	ATP8B3_uc002ltv.3_Silent_p.R1211R|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1248					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAACGGCGGGCACGAG	0.582000														17			5		0	0	0.000602	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929200	40929200	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40929200G>A	uc002ont.4	-	1	413	c.254C>T	c.(253-255)gCt>gTt	p.A85V		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	85	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGGGCAGCCGCGGGTGC	0.667000														15			7		0	0	0.004482	0	0
DDX43	55510	broad.mit.edu	37	6	74116114	74116114	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:74116114G>A	uc003pgw.3	+	6	1179	c.835G>A	c.(835-837)Gga>Aga	p.G279R	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	279	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTGTTGCAAGGAATAGATCT	0.428000														43			17		0	0	0.004990	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315473	30315473	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:30315473C>T	uc009xle.2	-	2	3741	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	KIAA1462_uc001iux.3_Missense_Mutation_p.E1202K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E1064K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1202										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCTTTTGTTCGAAGAACTTG	0.512000														51			120		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562935	140562935	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:140562935G>A	uc003liv.3	+	0	1956	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	267	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCGCCAGGGATTTAGACG	0.478000														38			46		0	0	0.003610	0	0
ZNF616	90317	broad.mit.edu	37	19	52618800	52618800	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:52618800A>G	uc002pym.3	-	3	1900	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAATTCTCCGATGCCTTGCAA	0.443000														38			38		0	0	0.004878	0	0
ABHD4	63874	broad.mit.edu	37	14	23070653	23070653	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:23070653C>T	uc001wgm.3	+	1	174	c.105C>T	c.(103-105)atC>atT	p.I35I	ABHD4_uc010tmz.1_Silent_p.I35I|ABHD4_uc010tna.1_Silent_p.I35I|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	35					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGCCAGGATCCTCCAGTGTA	0.562000														40			15		0	0	0.004007	0	0
LAMC2	3918	broad.mit.edu	37	1	183155552	183155552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:183155552C>T	uc001gqa.2	+	0	379	c.65C>T	c.(64-66)aCc>aTc	p.T22I	LAMC2_uc001gpz.4_Missense_Mutation_p.T22I|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	22					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCGGGCCACCTCCAGGAGG	0.657000														58			6		0	0	0.001984	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042580	75042580	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:75042580G>A	uc002ayr.1	+	1	565	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	167					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ATGTGAGCAAGGAGGCTAAGG	0.612000														107			45		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41552247	41552247	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:41552247C>G	uc003xok.3	-	27	3274	c.3190G>C	c.(3190-3192)Gtg>Ctg	p.V1064L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V380L|ANK1_uc003xoi.3_Missense_Mutation_p.V1064L|ANK1_uc003xoj.3_Missense_Mutation_p.V1064L|ANK1_uc003xol.3_Missense_Mutation_p.V1064L|ANK1_uc003xom.3_Missense_Mutation_p.V1105L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1064					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACATGATCACGAAGTACAGC	0.602000														19			33		0	0	0.003271	0	0
ZNF187	7741	broad.mit.edu	37	6	28239966	28239967	+	Silent	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:28239966_28239967CC>TT	uc011dlc.2	+	2	537_538	c.267_268CC>TT	c.(265-270)atcctg>atTTtg	p.89_90IL>IL	ZNF187_uc003nku.4_Intron|ZNF187_uc003nkw.4_5'UTR|ZNF187_uc011dle.2_5'UTR|ZNF187_uc011dlf.2_Intron|ZNF187_uc011dld.2_Silent_p.89_90IL>IL|ZNF187_uc011dlg.2_5'UTR	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	90	SCAN box.				viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										AGGAGCAGATCCTGGAGCTGCT	0.584000														14			11		0	0	0.004672	0	0
VPS8	23355	broad.mit.edu	37	3	184769774	184769774	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:184769774C>T	uc021xik.1	+	46	4336	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	VPS8_uc003fpb.1_Silent_p.F1414F|VPS8_uc010hyd.1_Silent_p.F1324F|VPS8_uc010hye.1_Silent_p.F843F	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1416							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATGAGAACTTCCAGCTGCAGC	0.562000														39			17		0	0	0.004990	0	0
TTLL12	23170	broad.mit.edu	37	22	43575962	43575962	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:43575962G>A	uc003bdq.3	-	3	653	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	197					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCGCGAACCGAACTCGTCCA	0.622000														18			49		0	0	0.003610	0	0
VPS26A	9559	broad.mit.edu	37	10	70925797	70925797	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:70925797G>A	uc001jpb.3	+	7	785	c.659_splice	c.e7-1	p.G220_splice	VPS26A_uc001jpc.3_Splice_Site_p.G220_splice|VPS26A_uc009xqa.3_Splice_Site_p.G213_splice|VPS26A_uc001jpd.3_Splice_Site_p.G109_splice	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	220					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TATTGCACTAGGACCCAGTAC	0.303000														11			17		0	0	0.008871	0	0
LCT	3938	broad.mit.edu	37	2	136570389	136570389	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:136570389C>T	uc002tuu.1	-	6	1856	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	615	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCTCAGGTCCTCAGGCCTCT	0.602000														46			13		0	0	0.002450	0	0
KCNB1	3745	broad.mit.edu	37	20	47990052	47990052	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:47990052C>T	uc002xur.1	-	1	2211	c.2045G>A	c.(2044-2046)aGt>aAt	p.S682N	KCNB1_uc002xus.1_Missense_Mutation_p.S682N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	682					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGAGTGGACTGGGGTCACC	0.547000														53			15		0	0	0.004990	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341874	79341874	+	Silent	SNP	G	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:79341874G>T	uc002beq.3	-	3	963	c.588C>A	c.(586-588)ccC>ccA	p.P196P	RASGRF1_uc002bep.3_Silent_p.P196P|RASGRF1_uc010blm.1_Silent_p.P118P|RASGRF1_uc002ber.4_Silent_p.P196P	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	196					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTCATCGTTGGGGGCGACAG	0.552000														33			36		6.99958e-10	1.16154e-09	0.006999	1	0
GPR112	139378	broad.mit.edu	37	X	135432543	135432543	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:135432543C>T	uc004ezu.1	+	5	6969	c.6678C>T	c.(6676-6678)tcC>tcT	p.S2226S	GPR112_uc010nsb.1_Silent_p.S2021S|GPR112_uc010nsc.1_Silent_p.S1993S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCACACCTTCCTTTCTATCTA	0.463000														85			24		0	0	0.003330	0	0
UNC13A	23025	broad.mit.edu	37	19	17783262	17783262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17783262C>T	uc021uqk.1	-	3	237	c.195G>A	c.(193-195)tgG>tgA	p.W65*		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	65	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACCCTTATTCCACACCTCCA	0.607000														25			24		0	0	0.006320	0	0
SYVN1	84447	broad.mit.edu	37	11	64900492	64900492	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:64900492G>A	uc001odb.3	-	3	373	c.279C>T	c.(277-279)acC>acT	p.T93T	SYVN1_uc001odc.3_Silent_p.T93T|SYVN1_uc009yqc.3_Silent_p.T93T	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	93					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCCGAAAAACGGTGAAGGCCA	0.527000														13			33		0	0	0.002836	0	0
ZNF676	163223	broad.mit.edu	37	19	22363414	22363414	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:22363414C>T	uc002nqs.1	-	2	1423	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATCCTTCACATTTG	0.393000														48			19		0	0	0.007413	0	0
ZNF665	79788	broad.mit.edu	37	19	53669139	53669139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53669139C>T	uc010eqm.1	-	3	704	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGCTTCTCTCCAGTATGAATT	0.388000														54			66		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183721183	183721183	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:183721183C>T	uc003ivd.1	+	26	7854	c.7779C>T	c.(7777-7779)ttC>ttT	p.F2593F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2593					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGCGCAGGTTCGCGGACGTGG	0.692000														6			4		0	0	0.000248	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128807690	128807690	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:128807690G>A	uc001qey.3	-	1	706	c.24C>T	c.(22-24)agC>agT	p.S8S	TP53AIP1_uc021qsc.1_Silent_p.S8S|TP53AIP1_uc021qsd.1_Silent_p.S8S|TP53AIP1_uc001qex.3_Silent_p.S8S|TP53AIP1_uc009zcm.2_Non-coding_Transcript|TP53AIP1_uc021qse.1_Silent_p.S8S	NM_022112	NP_071395	Q9HCN2	TPIP1_HUMAN	Homo sapiens tumor protein p53 regulated apoptosis inducing protein 1 (TP53AIP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	8					apoptosis	mitochondrion		p.A7V(1)		large_intestine(1)|lung(1)|skin(1)	3						CAGATCTGAAGCTCGCCTCAG	0.597000														21			40		0	0	0.002522	0	0
KIAA1210	57481	broad.mit.edu	37	X	118227629	118227629	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:118227629C>T	uc004era.4	-	10	1483	c.1483_splice	c.e10+1	p.D495_splice		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	495										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATATGCTAACCTGCACTGTC	0.438000														12			18		0	0	0.007413	0	0
TNRC18	84629	broad.mit.edu	37	7	5348769	5348769	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:5348769C>T	uc003soi.4	-	27	8968	c.8619G>A	c.(8617-8619)caG>caA	p.Q2873Q		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2873	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCACCTGGCCCTGGTGGAACT	0.672000														4			6		0	0	0.001168	0	0
KIF15	56992	broad.mit.edu	37	3	44867530	44867530	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:44867530G>A	uc003cnx.4	+	21	2699	c.2550_splice	c.e21-1	p.R850_splice	KIF15_uc010hiq.3_Splice_Site_p.R753_splice|KIF15_uc010hir.3_Splice_Site	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	850					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCCTTATAAAGGTTAGAAAAC	0.318000														54			12		0	0	0.001855	0	0
BRSK2	9024	broad.mit.edu	37	11	1471927	1471927	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:1471927C>T	uc001ltm.3	+	13	1789	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	BRSK2_uc009ycv.1_Silent_p.S488S|BRSK2_uc001lth.1_Silent_p.S466S|BRSK2_uc001lti.3_Silent_p.S466S|BRSK2_uc001ltl.3_Silent_p.S466S|BRSK2_uc001ltj.3_Silent_p.S466S|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_5'UTR	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	466					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGCCCCCGTCCAGCCCCAGCG	0.692000														23			4		0	0	0.000602	0	0
PDCD11	22984	broad.mit.edu	37	10	105173056	105173056	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:105173056G>A	uc001kwy.1	+	8	1249	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	388	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGGCTGAAGGATGGGGTTCT	0.547000														7			25		0	0	0.004656	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652161	36652161	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:36652161C>T	uc021yzb.1	+	2	385	c.283C>T	c.(283-285)Cct>Tct	p.P95S	CDKN1A_uc021yzc.1_Missense_Mutation_p.P95S|CDKN1A_uc011dtq.2_Missense_Mutation_p.P129S|CDKN1A_uc003omm.4_Missense_Mutation_p.P95S|CDKN1A_uc003omn.3_Missense_Mutation_p.P95S	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	95					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGGCAGGCGGCCTGGCACCTC	0.667000														22			9		0	0	0.004482	0	0
TACR1	6869	broad.mit.edu	37	2	75426023	75426023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:75426023G>A	uc002sng.2	-	0	623	c.38C>T	c.(37-39)cCa>cTa	p.P13L	TACR1_uc002snh.3_Missense_Mutation_p.P13L	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	13					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGATGTTTGGGGAGAGGTC	0.542000														29			10		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196602829	196602829	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:196602829C>T	uc002utj.4	-	64	11992	c.11891G>A	c.(11890-11892)aGg>aAg	p.R3964K	DNAH7_uc002uti.4_Missense_Mutation_p.R447K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3964					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATATCTGCCCTCTTACAGGG	0.413000														22			9		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107095556T>C	uc021ser.1	-	112		c.4940A>G								Parts of antibodies, mostly variable regions.																		ACCACAGGTGTTTCATGTTCT	0.532000														54			4		0	0	0.001168	0	0
C2orf78	388960	broad.mit.edu	37	2	74043308	74043308	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:74043308C>T	uc002sjr.1	+	2	2079	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	653										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TTCTCTTCCTCCAGGACCCTG	0.512000														31			35		0	0	0.003271	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69153703	69153703	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:69153703G>A	uc003dnr.3	+	2	592	c.483G>A	c.(481-483)ccG>ccA	p.P161P		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	161	Targeting to endoplasmic reticulum membrane (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		AGAGGACACCGATGGGCATTG	0.438000														40			15		0	0	0.002450	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989453	121989453	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:121989453G>A	uc002tmx.3	-	12	1383	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	430					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGTAGACTCGGTGGATGTGCT	0.637000														62			21		0	0	0.008871	0	0
TRIM65	201292	broad.mit.edu	37	17	73887946	73887946	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:73887946G>A	uc002jpx.3	-	4	969	c.933C>T	c.(931-933)ccC>ccT	p.P311P		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	311						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGTGCCAGGGGACCTGGGG	0.627000														18			5		0	0	0.001168	0	0
LAMA3	3909	broad.mit.edu	37	18	21396405	21396405	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:21396405G>A	uc002kuq.3	+	17	2187	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	LAMA3_uc002kur.3_Missense_Mutation_p.G701R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	701	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCCCTCGGGAGTGTGCCA	0.547000														25			22		0	0	0.002780	0	0
FAT2	2196	broad.mit.edu	37	5	150932928	150932928	+	Silent	SNP	C	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:150932928C>A	uc003lue.4	-	4	3979	c.3966G>T	c.(3964-3966)ggG>ggT	p.G1322G		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1322	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGTGGCTGCCCACTGTCTG	0.577000														23			7		0.00198382	0.00325176	0.001984	1	0
MED13	9969	broad.mit.edu	37	17	60060325	60060325	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:60060325C>T	uc002izo.3	-	15	3116	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1013					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1012T(15)|p.R1013S(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTTGGAGTCCTTGGAGTTG	0.502000														46			15		0	0	0.003163	0	0
COL24A1	255631	broad.mit.edu	37	1	86581030	86581030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:86581030G>A	uc001dlj.3	-	3	1598	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P508L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	508	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTCCCTGACGGACCTGGGAT	0.423000														27			10		0	0	0.001368	0	0
OR52L1	338751	broad.mit.edu	37	11	6007408	6007408	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:6007408G>A	uc001mcd.2	-	0	808	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTAAGTCGGGCCTCACTCC	0.512000														29			64		0	0	0.003610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855689	53855689	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53855689C>T	uc010ydv.1	+	3	1878	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	ZNF845_uc010ydw.1_Silent_p.V587V	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTCACCAAGTCTTTAGTAATG	0.378000														14			7		0	0	0.001984	0	0
C7	730	broad.mit.edu	37	5	40955600	40955600	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:40955600G>A	uc003jmh.3	+	9	1319	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	402	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AACAAAAGGCGATATTCTGCC	0.438000														66			55		0	0	0.003610	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150327	203150327	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:203150327C>T	uc001gzi.2	-	6	845	c.674G>A	c.(673-675)gGt>gAt	p.G225D	CHI3L1_uc001gzk.1_Missense_Mutation_p.G22D|CHI3L1_uc001gzj.2_Missense_Mutation_p.G225D|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	225					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ATCCTCCTGACCTCGGAACAG	0.577000														143			29		0	0	0.002096	0	0
ZNF556	80032	broad.mit.edu	37	19	2877606	2877606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:2877606C>T	uc002lwp.1	+	3	737	c.650C>T	c.(649-651)tCt>tTt	p.S217F	ZNF556_uc002lwq.3_Missense_Mutation_p.S216F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCCACTCTCTCACTGAA	0.498000														18			44		0	0	0.002222	0	0
FCGBP	8857	broad.mit.edu	37	19	40360893	40360893	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40360893T>G	uc002omp.4	-	32	15523	c.15515A>C	c.(15514-15516)cAa>cCa	p.Q5172P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5172	Cys-rich.|TIL 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAATCTTGGACAGGGAT	0.607000														49			21		0	0	0.001523	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4463325	4463325	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:4463325G>A	uc002cwf.3	-	1	584	c.141C>T	c.(139-141)ttC>ttT	p.F47F	CORO7-PAM16_uc002cwg.4_5'UTR|CORO7-PAM16_uc002cwh.4_Silent_p.F47F|CORO7-PAM16_uc010uxh.2_Silent_p.F47F|CORO7-PAM16_uc010uxi.2_Silent_p.F47F|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_5'UTR	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GGTCGGAGTTGAAGGCGATCA	0.517000														5			9		0	0	0.004482	0	0
A2ML1	144568	broad.mit.edu	37	12	8994057	8994058	+	Missense_Mutation	DNP	GG	AA	AA	rs75353365		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8994057_8994058GG>AA	uc001quz.4	+	10	1271_1272	c.1173_1174GG>AA	c.(1171-1176)ctggtt>ctAAtt	p.V392I	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	236						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCAGACCCTGGTTACTGATAA	0.485000														40			50		0	0	0.004672	0	0
MYLK3	91807	broad.mit.edu	37	16	46782006	46782006	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:46782006C>T	uc002eei.4	-	0	216	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	34					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCACCTTCTCGTTCAGCATG	0.577000														61			39		0	0	0.003214	0	0
CHST6	4166	broad.mit.edu	37	16	75513664	75513664	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:75513664G>A	uc021tlj.1	-	0	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CHST6_uc002fef.3_Silent_p.L21L|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.L21L	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	21					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAAGAGGAGGAGGAAGGTCT	0.701000														14			7		0	0	0.001984	0	0
WDR90	197335	broad.mit.edu	37	16	706315	706315	+	Silent	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:706315C>G	uc002cii.1	+	17	2034	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P187P|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	660										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGAGGGCCCCGTCAGCTCAG	0.697000														22			23		0	0	0.007291	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075892	144075893	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:144075892_144075893CC>TT	uc003wel.3	+	13	4687_4688	c.4569_4570CC>TT	c.(4567-4572)ccccga>ccTTga	p.R1524*	ARHGEF5_uc003wem.3_Nonsense_Mutation_p.R325*	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1524	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R1524*(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCTACAAGCCCCGAGAGAATGA	0.569000														124			36		0	0	0.004672	0	0
CSAG1	158511	broad.mit.edu	37	X	151908889	151908889	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:151908889C>T	uc004fge.3	+	3	456	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CSAG1_uc004fgf.3_Missense_Mutation_p.S43F|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	43										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCACGAGCCTCCAGCCCATTT	0.562000														199			68		0	0	0.003610	0	0
KLHL4	56062	broad.mit.edu	37	X	86890621	86890621	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:86890621G>A	uc004efa.2	+	8	1953	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	KLHL4_uc004efb.2_Missense_Mutation_p.D591N	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	591						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAATACTTTGACCCACACAC	0.413000														43			13		0	0	0.001368	0	0
SOX13	9580	broad.mit.edu	37	1	204091084	204091084	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:204091084G>A	uc001ham.3	+	7	1427	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	SOX13_uc010pqp.2_Missense_Mutation_p.G277R|SOX13_uc010pqq.2_Missense_Mutation_p.G145R	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	278	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G278G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGAGGCCTGGGGCCATGGC	0.637000														30			5		0	0	0.000602	0	0
LOC100288778	100288778	broad.mit.edu	37	12	88651	88651	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:88651A>G	uc010scy.2	+	5	715	c.160A>G	c.(160-162)Agc>Ggc	p.S54G	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdb.1_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Missense_Mutation_p.S54G|LOC100288778_uc010sde.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdf.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdg.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		TGACCTGCCCAGCATTGCCAA	0.587000														1			4		0	0	0.000602	0	0
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	T	T	rs150542987		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:5498571C>T	uc001iia.3	+	11	1543	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_uc010qar.2_Missense_Mutation_p.R288C|NET1_uc001iib.3_Missense_Mutation_p.R415C|NET1_uc010qas.2_Missense_Mutation_p.R288C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403000														20			55		0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107850081	107850081	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:107850081C>T	uc022ccg.1	+	28	2556	c.2354C>T	c.(2353-2355)cCt>cTt	p.P785L	COL4A5_uc004enz.1_Missense_Mutation_p.P785L|COL4A5_uc004eob.1_Missense_Mutation_p.P393L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	785	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCGGGTCCTCCAGGACGC	0.517000									Alport syndrome with Diffuse Leiomyomatosis					116			32		0	0	0.003271	0	0
ACADM	34	broad.mit.edu	37	1	76226820	76226820	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:76226820C>T	uc001dgw.4	+	10	1389	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ACADM_uc010ord.2_Missense_Mutation_p.S234L|ACADM_uc009wbr.3_Missense_Mutation_p.S353L|ACADM_uc010ore.2_Missense_Mutation_p.S284L|ACADM_uc010orf.2_Missense_Mutation_p.S131L|ACADM_uc009wbp.3_Missense_Mutation_p.S324L|ACADM_uc010org.2_Missense_Mutation_p.S190L|ACADM_uc009wbs.1_Non-coding_Transcript	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CAAGCAATATCATTTATGCTG	0.338000														15			12		0	0	0.000978	0	0
SULF1	23213	broad.mit.edu	37	8	70513987	70513987	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:70513987G>A	uc003xyg.2	+	8	1545	c.984G>A	c.(982-984)aaG>aaA	p.K328K	SULF1_uc010lza.1_Silent_p.K328K|SULF1_uc003xyd.2_Silent_p.K328K|SULF1_uc003xye.2_Silent_p.K328K|SULF1_uc003xyf.2_Silent_p.K328K|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	328					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GACTGGTCAAGGGGAAATCCA	0.448000														126			48		0	0	0.003610	0	0
EHD3	30845	broad.mit.edu	37	2	31483452	31483452	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:31483452A>T	uc002rnu.3	+	3	1187	c.579A>T	c.(577-579)aaA>aaT	p.K193N	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	193					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ATGCCCACAAACTGGACATCT	0.537000														58			18		0	0	0.006122	0	0
MYO18B	84700	broad.mit.edu	37	22	26423393	26423393	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26423393C>T	uc003abz.1	+	42	7703	c.7453C>T	c.(7453-7455)Ctc>Ttc	p.L2485F	MYO18B_uc003aca.1_Missense_Mutation_p.L2366F|MYO18B_uc010guy.1_Missense_Mutation_p.L2367F|MYO18B_uc010guz.1_Missense_Mutation_p.L2365F|MYO18B_uc011aka.1_Missense_Mutation_p.L1639F|MYO18B_uc011akb.1_Missense_Mutation_p.L1998F|MYO18B_uc010gva.1_Missense_Mutation_p.L468F|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2485						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGTTCCTTTCTCTCGGGGAT	0.557000														5			24		0	0	0.002299	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572200	186572200	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:186572200G>A	uc010hyy.3	+	3	577	c.442G>A	c.(442-444)Ggt>Agt	p.G148S	ADIPOQ_uc003fra.3_Missense_Mutation_p.G148S	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	148	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	p.G148V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TGGCTCCACTGGTAAATTCCA	0.453000														45			38		0	0	0.005524	0	0
POLQ	10721	broad.mit.edu	37	3	121206697	121206697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:121206697G>A	uc003eee.4	-	15	5210	c.5081C>T	c.(5080-5082)tCa>tTa	p.S1694L	POLQ_uc003eed.3_Missense_Mutation_p.S866L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1694					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAGAAAATGAAATTCCCTG	0.308000								DNA polymerases (catalytic subunits)						63			14		0	0	0.003163	0	0
LRRC7	57554	broad.mit.edu	37	1	70541893	70541893	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:70541893C>T	uc001dep.3	+	21	4280	c.4250C>T	c.(4249-4251)cCc>cTc	p.P1417L	LRRC7_uc009wbg.3_Missense_Mutation_p.P701L|LRRC7_uc001deq.3_Missense_Mutation_p.P611L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1417						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTCAGATCCCCTCTTCACAG	0.502000														46			35		0	0	0.004878	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518552	7518552	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:7518552C>T	uc002mgi.3	+	6	1744	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	ARHGEF18_uc010xjm.1_Silent_p.L339L|ARHGEF18_uc002mgh.3_Silent_p.L339L|ARHGEF18_uc002mgj.1_Silent_p.L140L	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	497	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGCGGCAGCTCCACCTGGAGG	0.582000														79			17		0	0	0.008871	0	0
DOCK10	55619	broad.mit.edu	37	2	225740795	225740795	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:225740795G>A	uc010fwz.1	-	7	1130	c.891C>T	c.(889-891)ctC>ctT	p.L297L	DOCK10_uc002vob.2_Silent_p.L291L|DOCK10_uc002vod.1_Silent_p.L297L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	297							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCTCCCTTGGAGGGGCCCCT	0.512000														72			21		0	0	0.002299	0	0
MMEL1	79258	broad.mit.edu	37	1	2522449	2522449	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:2522449C>T	uc001ajy.2	-	23	2534	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_3'UTR|FAM213B_uc001ajw.2_3'UTR|FAM213B_uc001ajv.2_3'UTR|FAM213B_uc001aju.2_3'UTR|FAM213B_uc010nzd.2_3'UTR|FAM213B_uc010nze.2_3'UTR|FAM213B_uc010nzf.2_3'UTR|FAM213B_uc001ajx.2_3'UTR|MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	774					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGGCATCGCTCCTTGGGGTGC	0.701000														13			7		0	0	0.004482	0	0
HSPBP1	23640	broad.mit.edu	37	19	55776708	55776708	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55776708G>A	uc002qkd.3	-	7	1277	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	HSPBP1_uc002qjx.3_Silent_p.L361L|HSPBP1_uc002qkc.3_Silent_p.L315L|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	318					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.E314*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCAGGCCCAGTTCCGGCTCC	0.647000														101			32		0	0	0.003755	0	0
DBC1	1620	broad.mit.edu	37	9	121929549	121929549	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:121929549C>T	uc004bkc.2	-	7	2555	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	700					cell cycle arrest|cell death	cytoplasm	protein binding	p.R700W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AATTCGGTCCCGAATATCCAA	0.572000														128			30		0	0	0.006320	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481214	95481214	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:95481214G>A	uc010fhq.2	-	1	1166	c.774C>T	c.(772-774)ttC>ttT	p.F258F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	678										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTGTCTTACGGAACTTATCTT	0.323000														49			62		0	0	0.003610	0	0
PDZD4	57595	broad.mit.edu	37	X	153068892	153068892	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153068892G>A	uc004fja.1	-	7	2494	c.2244C>T	c.(2242-2244)acC>acT	p.T748T	PDZD4_uc004fiy.1_Silent_p.T667T|PDZD4_uc004fiz.1_Silent_p.T742T|PDZD4_uc004fix.2_Silent_p.T646T|PDZD4_uc011mze.1_Silent_p.T633T|PDZD4_uc022chy.1_Silent_p.T121T	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	742						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTGGATGGTGATCCAGT	0.602000														23			24		0	0	0.002780	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334494	39334494	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:39334494G>A	uc021uuh.1	-	5	879	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	HNRNPL_uc002ojk.3_5'Flank|HNRNPL_uc002ojl.3_5'Flank|HNRNPL_uc021uui.1_Missense_Mutation_p.L157F|HNRNPL_uc010xun.2_5'UTR	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	290					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGTCCACTGAGATTGGGGTTT	0.473000														38			49		0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5463221	5463221	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:5463221G>A	uc002gci.3	-	3	1350	c.795C>T	c.(793-795)tcC>tcT	p.S265S	NLRP1_uc002gcg.1_Silent_p.S265S|NLRP1_uc002gch.4_Silent_p.S265S|NLRP1_uc002gck.3_Silent_p.S265S|NLRP1_uc002gcj.3_Silent_p.S265S|NLRP1_uc002gcl.3_Silent_p.S265S|NLRP1_uc010clh.3_Silent_p.S265S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	265					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGGCCATGTGGAACAGAGGC	0.557000														155			54		0	0	0.003610	0	0
EDAR	10913	broad.mit.edu	37	2	109526934	109526934	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:109526934G>A	uc010fjn.3	-	8	1428	c.881C>T	c.(880-882)cCa>cTa	p.P294L	EDAR_uc010yws.2_Missense_Mutation_p.P294L|EDAR_uc002teq.4_Missense_Mutation_p.P262L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	262					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGCTTTGCTGGAGTTGCTGT	0.557000														19			28		0	0	0.008361	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458870	45458870	+	RNA	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:45458870C>T	uc001rol.3	-	0		c.325G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CGCAGTTAGCCTCAGCTCTCC	0.458000														7			6		0	0	0.001984	0	0
ZNF295	49854	broad.mit.edu	37	21	43412714	43412714	+	Silent	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:43412714T>C	uc021wjo.1	-	0	1491	c.1491A>G	c.(1489-1491)ttA>ttG	p.L497L	ZNF295_uc002yzz.4_Silent_p.L497L|ZNF295_uc002zab.4_Silent_p.L497L|ZNF295_uc002yzy.4_Silent_p.L497L|ZNF295_uc002zaa.4_Silent_p.L497L|ZNF295_uc010gov.1_Silent_p.L497L|ZNF295_uc002zac.2_Silent_p.L497L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	497					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CATTCACCTTTAACTTCTTAA	0.443000														83			67		0	0	0.003610	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:104192063_104192064CC>TT	uc004bbk.2	-	2	379_380	c.297_298GG>AA	c.(295-300)aaggaa>aaAAaa	p.E100K		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	100					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|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	p.K99K(2)		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)				ATCCCCTTTTCCTTGAGGATGT	0.530000														183			127		0	0	0.004672	0	0
TEX14	56155	broad.mit.edu	37	17	56700313	56700313	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:56700313G>A	uc010dcz.2	-	3	430	c.312C>T	c.(310-312)atC>atT	p.I104I	TEX14_uc002iwr.2_Silent_p.I104I|TEX14_uc002iws.2_Silent_p.I104I|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	104						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTGCTAAGGATCCACTGAT	0.547000														23			21		0	0	0.008871	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190234	119190234	+	Silent	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:119190234A>T	uc003ecm.3	+	2	339	c.255A>T	c.(253-255)ctA>ctT	p.L85L	POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.	85						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GACGGAAGCTAGGGACCCACT	0.468000														55			78		0	0	0.003610	0	0
NEK2	4751	broad.mit.edu	37	1	211840481	211840482	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:211840481_211840482CC>TT	uc001hir.2	-	6	1228_1229	c.1077_1078GG>AA	c.(1075-1080)aaggaa>aaAAaa	p.E360K	NEK2_uc021piq.1_Missense_Mutation_p.E360K|NEK2_uc021pir.1_Missense_Mutation_p.E110K|NEK2_uc001his.4_Missense_Mutation_p.E360K	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	360	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AACTTCCGTTCCTTTAGCAAGC	0.431000														48			77		0	0	0.004672	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:59132584C>T	uc010rks.2	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000														25			67		0	0	0.003610	0	0
LAMP5	24141	broad.mit.edu	37	20	9498791	9498791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:9498791G>A	uc002wni.2	+	4	1075	c.580G>A	c.(580-582)Gat>Aat	p.D194N	LAMP5_uc010zrc.2_Missense_Mutation_p.D150N	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	194						integral to membrane											GGCCTCTAGTGATCCGCAGAA	0.512000														43			18		0	0	0.004990	0	0
VSIG8	391123	broad.mit.edu	37	1	159828675	159828675	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159828675C>T	uc001fuh.3	-	1	213	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	26	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTGTCCATCCCCGTTGATCCG	0.602000														32			47		0	0	0.003610	0	0
NRXN2	9379	broad.mit.edu	37	11	64419053	64419053	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:64419053G>A	uc021qkw.1	-	13	3054	c.2592C>T	c.(2590-2592)atC>atT	p.I864I	NRXN2_uc021qkx.1_Silent_p.I824I|NRXN2_uc001oas.3_Silent_p.I824I|NRXN2_uc001oaq.3_Silent_p.I531I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	864	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTCCGTCATGATGCCCGTCT	0.587000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			4		0	0	0.000602	0	0
HCFC1	3054	broad.mit.edu	37	X	153218265	153218265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153218265C>T	uc004fjp.3	-	18	5170	c.4642G>A	c.(4642-4644)Gat>Aat	p.D1548N		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1548					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTCAGATCCACGGCGGCC	0.697000											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		11			10		0	0	0.006214	0	0
KRT15	3866	broad.mit.edu	37	17	39672217	39672217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:39672217G>A	uc002hwy.3	-	4	1137	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	KRT15_uc002hwz.3_Nonsense_Mutation_p.Q218*|KRT15_uc002hxa.3_Nonsense_Mutation_p.Q151*|KRT15_uc002hxb.1_Nonsense_Mutation_p.Q151*	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	316	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TTGCTGGTCTGGATCATTTCT	0.592000														134			51		0	0	0.003610	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186539	37186539	+	RNA	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:37186539G>A	uc002hrd.1	+	0		c.381G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TCCCCCTAAGGAGGTAGAACC	0.592000														19			4		0	0	0.000248	0	0
FAT4	79633	broad.mit.edu	37	4	126371324	126371324	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:126371324G>A	uc003ifj.4	+	8	9153	c.9153G>A	c.(9151-9153)ttG>ttA	p.L3051L	FAT4_uc011cgp.2_Silent_p.L1349L|FAT4_uc003ifi.1_Silent_p.L529L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3051	Cadherin 29.				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						TTTCTGACTTGAACCAAAACT	0.388000														22			16		0	0	0.003163	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578076	14578076	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:14578076G>A	uc001rbw.3	+	1	1385	c.1227G>A	c.(1225-1227)acG>acA	p.T409T	ATF7IP_uc010shs.1_Silent_p.T409T|ATF7IP_uc001rbu.3_Silent_p.T409T|ATF7IP_uc001rbv.1_Silent_p.T409T|ATF7IP_uc001rbx.3_Silent_p.T409T|ATF7IP_uc010sht.1_Silent_p.T409T|ATF7IP_uc001rby.4_Silent_p.T409T|ATF7IP_uc001rbz.1_Silent_p.T409T|ATF7IP_uc001rca.3_Silent_p.T409T|ATF7IP_uc001rcb.3_Silent_p.T20T	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	409	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTAGAAACGATTAATGAAA	0.338000														50			12		0	0	0.000978	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593801	16593801	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:16593801C>T	uc002gqk.1	+	0	163	c.87C>T	c.(85-87)gtC>gtT	p.V29V		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	29																	CCCCTAGCGTCGGGAGCCAGG	0.657000														17			24		0	0	0.003330	0	0
FMO3	2328	broad.mit.edu	37	1	171076868	171076868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:171076868G>A	uc001ghi.3	+	3	485	c.374G>A	c.(373-375)tGg>tAg	p.W125*	FMO3_uc001ghh.3_Nonsense_Mutation_p.W125*|FMO3_uc010pmb.2_Nonsense_Mutation_p.W105*|FMO3_uc010pmc.2_Nonsense_Mutation_p.W62*	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	125					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGGCCAGTGGGATGTTACC	0.398000														50			15		0	0	0.004007	0	0
SYNE2	23224	broad.mit.edu	37	14	64692153	64692153	+	Missense_Mutation	SNP	C	T	T	rs149036674		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:64692153C>T	uc001xgl.3	+	115	20863	c.20633C>T	c.(20632-20634)tCc>tTc	p.S6878F	SYNE2_uc001xgm.3_Missense_Mutation_p.S6856F|SYNE2_uc010apy.3_Missense_Mutation_p.S3241F|SYNE2_uc001xgn.3_Missense_Mutation_p.S1817F|SYNE2_uc021rui.1_Silent_p.L1821L|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.S826F|SYNE2_uc001xgq.3_Missense_Mutation_p.S1235F|SYNE2_uc001xgr.3_Missense_Mutation_p.S639F|SYNE2_uc010tsi.2_Missense_Mutation_p.S513F|SYNE2_uc001xgs.3_Missense_Mutation_p.S527F|SYNE2_uc001xgt.3_Missense_Mutation_p.S400F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6856	KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ctgcCCTCCTCCGAAGAAGAC	0.632000														29			9		0	0	0.006214	0	0
BSN	8927	broad.mit.edu	37	3	49698954	49698954	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:49698954A>T	uc003cxe.4	+	5	9790	c.9676A>T	c.(9676-9678)Aac>Tac	p.N3226Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3226					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTGGAGCAGAACGTTCCTCG	0.592000														81			32		0	0	0.002445	0	0
VWA7	80737	broad.mit.edu	37	6	31733506	31733506	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31733506G>A	uc011dog.2	-	16	2779	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	847						extracellular region											TGGCCGTGGTGAGGATCGGGT	0.607000														250			188		0	0	0.003610	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777152	131777152	+	Silent	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131777152T>C	uc004bww.3	-	3	512	c.366A>G	c.(364-366)gaA>gaG	p.E122E	SH3GLB2_uc004bwv.3_Silent_p.E122E	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	122	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CCAGTTGCTTTTCAGCTTCTG	0.547000														86			56		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179640203	179640203	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179640203C>T	uc021vsy.1	-	27	6613	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	TTN_uc021vsz.1_Missense_Mutation_p.E2084K|TTN_uc021vta.1_Missense_Mutation_p.E2084K|TTN_uc021vtb.1_Missense_Mutation_p.E2084K|TTN_uc002unb.2_Missense_Mutation_p.E2130K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2130	Ig-like 10.						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)			ACATTGTCTTCGGGCCAGTAC	0.483000														25			22		0	0	0.002299	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187544	140187544	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:140187544G>A	uc003lhi.2	+	0	873	c.772G>A	c.(772-774)Gga>Aga	p.G258R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G258R|PCDHAC2_uc011daa.2_Missense_Mutation_p.G258R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	273	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCTAATGGAACATTGGT	0.373000														49			14		0	0	0.002450	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034897	107034897	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107034897C>T	uc001ysz.3	-	1	212	c.183G>A	c.(181-183)ggG>ggA	p.G61G	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		CCAGGCCTTTCCCGGGCATCT	0.562000														14			28		0	0	0.005443	0	0
KCNU1	157855	broad.mit.edu	37	8	36793381	36793381	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:36793381G>A	uc010lvw.3	+	26	3480	c.3393G>A	c.(3391-3393)agG>agA	p.R1131R		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1131						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAAATGAAAGGAAAACTTCAG	0.383000														42			47		0	0	0.003610	0	0
CPZ	8532	broad.mit.edu	37	4	8616199	8616199	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:8616199G>A	uc003glm.3	+	8	1651	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E482K|CPZ_uc003gln.3_Missense_Mutation_p.E356K	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	493					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACAACAAGGAGTCACTCCT	0.592000														22			13		0	0	0.004007	0	0
RCOR2	283248	broad.mit.edu	37	11	63680420	63680420	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:63680420C>T	uc001nyc.3	-	9	1280	c.892_splice	c.e9-1	p.V298_splice		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGCTCTGTACCTGGGAAGGCC	0.582000														7			22		0	0	0.002299	0	0
ARSJ	79642	broad.mit.edu	37	4	114824459	114824459	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:114824459C>T	uc003ibq.1	-	1	1659	c.771G>A	c.(769-771)aaG>aaA	p.K257K	ARSJ_uc010imu.1_Silent_p.K257K|ARSJ_uc010imv.1_Silent_p.K85K	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	257						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AAAATATAGGCTTTGTGGGGT	0.418000														48			21		0	0	0.008871	0	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:170097612G>A	uc002ues.3	-	24	4144	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_uc010zdf.1_Missense_Mutation_p.R1174C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1311	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGACAGCGAAAGGGCTGA	0.517000														90			26		0	0	0.003330	0	0
MED12	9968	broad.mit.edu	37	X	70352255	70352255	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:70352255G>A	uc004dyy.3	+	30	4481	c.4282G>A	c.(4282-4284)Gtg>Atg	p.V1428M	MED12_uc011mpq.1_Missense_Mutation_p.V1428M|MED12_uc004dyz.3_Missense_Mutation_p.V1428M|MED12_uc004dza.3_Missense_Mutation_p.V1275M|MED12_uc010nla.3_Missense_Mutation_p.V54M	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1428					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTATGGCTGGTGGCCCCCCT	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							37			16		0	0	0.008871	0	0
C1orf173	127254	broad.mit.edu	37	1	75055424	75055424	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:75055424C>T	uc001dgg.3	-	11	2286	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G483G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	689	Glu-rich.							p.G689G(2)|p.S688Y(2)|p.G689W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACATGTTTCCCGGACTTCT	0.458000														87			39		0	0	0.005524	0	0
VN1R2	317701	broad.mit.edu	37	19	53762553	53762553	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53762553C>T	uc002qbi.2	+	0	1009	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	309					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CAACTCTTCTCCTGGGAACAG	0.483000														111			40		0	0	0.006230	0	0
DAB2	1601	broad.mit.edu	37	5	39377257	39377257	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:39377257G>A	uc003jlx.3	-	11	2163	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V	DAB2_uc003jlw.3_Silent_p.V523V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	544					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TACCAAAAATGACGGGCTGAC	0.537000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			16		0	0	0.003163	0	0
NR3C2	4306	broad.mit.edu	37	4	149075791	149075791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:149075791G>A	uc003ilj.4	-	4	2639	c.2276C>T	c.(2275-2277)cCa>cTa	p.P759L	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	759	Steroid-binding.		P -> S (in AD-PHA1).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTGTATCTGGTTTTGAGCT	0.493000														79			63		0	0	0.003610	0	0
SLC6A8	6535	broad.mit.edu	37	X	152954135	152954135	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:152954135G>A	uc004fib.3	+	0	384	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	SLC6A8_uc004fic.3_Missense_Mutation_p.G36S|SLC6A8_uc011myx.1_5'Flank|PNCK_uc011myw.2_5'Flank|SLC6A8_uc010nui.1_5'Flank	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	36					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	cAAGGGCGACGGCCCCGTGGG	0.731000														6			6		0	0	0.001168	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064047	6064047	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6064047C>T	uc010idb.1	-	9	2038	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E333K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E518K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E353K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E518K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E518K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	518	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCCGGGCCTCCCTCTCAGCG	0.662000														36			27		0	0	0.006320	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428248	128428248	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:128428248G>A	uc003ysf.3	+	0	392	c.137G>A	c.(136-138)gGa>gAa	p.G46E	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGAGGGCCAGGAATCGGGCCG	0.692000														2			8		0	0	0.000978	0	0
TSIX	9383	broad.mit.edu	37	X	73043903	73043903	+	RNA	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:73043903T>A	uc004ebn.2	+	0		c.31864T>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGGATAAGAGTAATCAATGAT	0.323000														29			5		0	0	0.001168	0	0
PHF8	23133	broad.mit.edu	37	X	54014280	54014280	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:54014280C>T	uc004dsu.3	-	14	2182	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PHF8_uc004dsv.3_Missense_Mutation_p.E476K|PHF8_uc004dst.3_Missense_Mutation_p.E610K|PHF8_uc004dsw.3_Missense_Mutation_p.E509K|PHF8_uc004dsx.3_Missense_Mutation_p.E374K|PHF8_uc004dsy.3_Missense_Mutation_p.E610K	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	646					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AAGTCAAATTCGTCTTCCATC	0.453000														24			26		0	0	0.006320	0	0
RGS9	8787	broad.mit.edu	37	17	63156360	63156360	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:63156360A>G	uc002jfe.3	+	3	418	c.215A>G	c.(214-216)aAc>aGc	p.N72S	RGS9_uc021ubw.1_Missense_Mutation_p.N72S|RGS9_uc010dem.3_Missense_Mutation_p.N72S|RGS9_uc002jfd.3_Missense_Mutation_p.N72S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	72	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GAGGCACAGAACTTGGGCAAC	0.527000														37			48		0	0	0.003610	0	0
RIN3	79890	broad.mit.edu	37	14	93154591	93154591	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:93154591C>T	uc001yap.3	+	9	3104	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	RIN3_uc010auk.3_Silent_p.F646F|RIN3_uc001yaq.3_Silent_p.F909F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	984					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCCCAACTTCCTGTGAGGCC	0.751000														12			11		0	0	0.001368	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380788	30380788	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:30380788C>T	uc002yms.3	-	1	309	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_016940	NP_058636	P57060	RWD2B_HUMAN	Homo sapiens RWD domain containing 2B (RWDD2B), mRNA.	74	RWD.							p.K73N(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CCTCCATTGTCTTCTTTTCAA	0.403000														63			36		0	0	0.004289	0	0
THRB	7068	broad.mit.edu	37	3	24188267	24188267	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:24188267G>A	uc003ccz.4	-	7	951	c.431C>T	c.(430-432)tCc>tTc	p.S144F	THRB_uc010hfe.3_Missense_Mutation_p.S144F|THRB_uc003ccy.4_Missense_Mutation_p.S144F|THRB_uc003ccx.4_Missense_Mutation_p.S144F	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	144					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATATTTACAGGAATAGGATGG	0.363000														52			14		0	0	0.002450	0	0
MYH1	4619	broad.mit.edu	37	17	10401165	10401165	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10401165G>A	uc002gmo.3	-	30	4345	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1417						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTCAAGGGAAGCACATT	0.478000														64			25		0	0	0.003954	0	0
HGSNAT	138050	broad.mit.edu	37	8	43046651	43046651	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:43046651C>T	uc003xpx.4	+	11	1211	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	416					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GACATCACGTCCAGCTGGCCC	0.557000														86			96		0	0	0.003610	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825520	219825520	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:219825520G>A	uc002vjf.3	+	0	1123	c.978G>A	c.(976-978)aaG>aaA	p.K326K		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 2 (p39) (CDK5R2), mRNA.	326					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGACCTCAAGAACGAGGGCG	0.736000														17			20		0	0	0.007413	0	0
OR5L2	26338	broad.mit.edu	37	11	55595525	55595525	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:55595525C>T	uc001nhy.1	+	0	831	c.831C>T	c.(829-831)ttC>ttT	p.F277F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCACCGTGTTCTACACAGTTG	0.468000										HNSCC(27;0.073)				8			44		0	0	0.002522	0	0
C14orf133	63894	broad.mit.edu	37	14	77894796	77894796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:77894796G>A	uc001xtt.2	-	19	1795	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C	C14orf133_uc001xtu.2_Missense_Mutation_p.R460C|C14orf133_uc001xtv.2_Missense_Mutation_p.R460C|C14orf133_uc021rwu.1_Missense_Mutation_p.R460C|C14orf133_uc010tvj.2_Missense_Mutation_p.R411C	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	460					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AACTGTTGACGATCCTTCAGG	0.478000														23			16		0	0	0.008871	0	0
KCNB2	9312	broad.mit.edu	37	8	73848346	73848346	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:73848346C>T	uc003xzb.3	+	2	1344	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	252					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R251L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTTGCGATTCTTATCCTCAC	0.443000														63			27		0	0	0.004656	0	0
NPIP	9284	broad.mit.edu	37	16	15045785	15045785	+	Nonsense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:15045785C>G	uc002dcy.4	+	7	956	c.956C>G	c.(955-957)tCa>tGa	p.S319*	NPIP_uc002dcx.4_Non-coding_Transcript	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.	319	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CTTCCACCCTCAGCTCCACCC	0.542000														81			18		0	0	0.001523	0	0
ZNF222	7673	broad.mit.edu	37	19	44537123	44537123	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44537123G>A	uc002oye.3	+	3	1511	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Silent_p.K432K|ZNF222_uc002oyd.3_Silent_p.K378K	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ACTGTGGGAAGCGCTACAAGA	0.373000														35			9		0	0	0.004482	0	0
ALDH2	217	broad.mit.edu	37	12	112235912	112235912	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:112235912G>A	uc001tst.3	+	9	1210	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	ALDH2_uc010syi.2_Missense_Mutation_p.G325S	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	372					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GAAGATCCTCGGCTACATCAA	0.527000			T	HMGA2	leiomyoma									110			10		0	0	0.000978	0	0
TNXB	7148	broad.mit.edu	37	6	32049835	32049836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:32049835_32049836GG>AA	uc003nzl.2	-	8	3915_3916	c.3713_3714CC>TT	c.(3712-3714)ccc>cTT	p.P1238L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1325					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCCGTGAGGGGGCCATACCG	0.574000														244			155		0	0	0.004672	0	0
OXR1	55074	broad.mit.edu	37	8	107705019	107705019	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:107705019C>T	uc011lht.2	+	5	691	c.592C>T	c.(592-594)Cga>Tga	p.R198*	OXR1_uc022azp.1_Nonsense_Mutation_p.R197*|OXR1_uc003ymf.3_Nonsense_Mutation_p.R197*|OXR1_uc011lhu.2_Nonsense_Mutation_p.R190*|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Nonsense_Mutation_p.R130*|OXR1_uc003ymi.1_Nonsense_Mutation_p.R109*	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	198					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCGACCTGCACGAGTTGTATC	0.348000														46			13		0	0	0.003163	0	0
SCAF1	58506	broad.mit.edu	37	19	50158054	50158054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:50158054C>T	uc002poq.3	+	8	3669	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1182					RNA splicing|mRNA processing	nucleus	RNA binding	p.T1181P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCCACCCCCACCGGGCTG	0.697000														22			32		0	0	0.001786	0	0
C12orf50	160419	broad.mit.edu	37	12	88376933	88376933	+	Missense_Mutation	SNP	C	T	T	rs145797004		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:88376933C>T	uc001tam.1	-	11	1334	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	389								p.W388R(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AATTCGTTTTCGCCAGGCTGA	0.279000														57			47		0	0	0.003610	0	0
DLEC1	9940	broad.mit.edu	37	3	38087060	38087060	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:38087060G>A	uc003chp.1	+	1	459	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DLEC1_uc003cho.1_Silent_p.L146L|DLEC1_uc010hgv.1_Silent_p.L146L	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	146					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCAGCGGCTGGATGAGTTTG	0.498000														56			29		0	0	0.007291	0	0
abParts	0	broad.mit.edu	37	14	107095544	107095544	+	RNA	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107095544G>A	uc021ser.1	-	112		c.4952C>T								Parts of antibodies, mostly variable regions.																		GGAGGAGGAAGAACCACAGGT	0.527000														60			4		0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56369277	56369277	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:56369277C>G	uc002qmd.4	+	2	940	c.518C>G	c.(517-519)tCg>tGg	p.S173W	NLRP4_uc002qmf.3_Missense_Mutation_p.S98W|NLRP4_uc010etf.3_Missense_Mutation_p.S4W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	173	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCCTGGTCGGACAACAAG	0.498000														67			71		0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52542315	52542315	+	Silent	SNP	C	T	T	rs148343623	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:52542315C>T	uc003dej.3	+	20	2249	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	STAB1_uc003dei.1_Silent_p.F725F	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	725					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGGTTTTTTCGGGCCTGACT	0.587000														66			19		0	0	0.008871	0	0
COL24A1	255631	broad.mit.edu	37	1	86375686	86375686	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:86375686C>T	uc001dlj.3	-	26	2692	c.2617_splice	c.e26-1	p.G873_splice	COL24A1_uc001dli.3_Splice_Site_p.G9_splice|COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.G173_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	873	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCACGTTCTCCCTTTTAAGAG	0.383000														110			50		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63412416	63412416	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:63412416C>T	uc022byb.1	-	0	751	c.751G>A	c.(751-753)Gag>Aag	p.E251K	FAM123B_uc004dvo.3_Missense_Mutation_p.E251K	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	251					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCCATTTTCTCAGTAGCTGGT	0.537000														172			45		0	0	0.003610	0	0
TSR2	90121	broad.mit.edu	37	X	54470529	54470529	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:54470529G>A	uc004dte.3	+	3	355	c.353G>A	c.(352-354)aGa>aAa	p.R118K	TSR2_uc004dtf.3_Missense_Mutation_p.R23K	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	118					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						ATCACTCAGAGAAAATGCAAG	0.522000														101			31		0	0	0.001786	0	0
CSMD1	64478	broad.mit.edu	37	8	2836281	2836281	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:2836281G>A	uc022aqr.1	-	54	8809	c.8419C>T	c.(8419-8421)Cgt>Tgt	p.R2807C	CSMD1_uc011kwj.2_Missense_Mutation_p.R2137C|CSMD1_uc010lrg.3_Missense_Mutation_p.R818C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2808	Sushi 20.					integral to membrane		p.R2807C(1)|p.R2536C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCGTGACGAATGGCATTT	0.403000														7			15		0	0	0.006122	0	0
MCHR2	84539	broad.mit.edu	37	6	100368907	100368907	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:100368907C>T	uc003pqh.1	-	5	1247	c.932G>A	c.(931-933)gGa>gAa	p.G311E	MCHR2_uc003pqi.1_Missense_Mutation_p.G311E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGGAAATTTCCACTCAGCAG	0.443000														94			52		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919598	54919598	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:54919598G>A	uc003dhf.3	+	22	2089	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E587K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E415K|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	681						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAAAGGCAAAGAACCTCTGCT	0.468000														20			9		0	0	0.006214	0	0
RGAG4	340526	broad.mit.edu	37	X	71350311	71350311	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:71350311C>T	uc010nlh.2	-	0	1080	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Silent_p.K360K	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	360								p.E360*(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCCTCTGGTCCTTGGAGTGAA	0.493000														9			20		0	0	0.007413	0	0
FAT3	120114	broad.mit.edu	37	11	92507292	92507292	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:92507292C>T	uc001pdj.4	+	5	4298	c.4281C>T	c.(4279-4281)tcC>tcT	p.S1427S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1427	Cadherin 13.				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)				AGCAGAGGTCCATCTATAATA	0.448000										TCGA Ovarian(4;0.039)				206			101		0	0	0.003610	0	0
COL5A2	1290	broad.mit.edu	37	2	189957116	189957116	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:189957116C>G	uc002uqk.3	-	6	762	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	163					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G162R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACCTGGTTCTCCATCAATT	0.517000														13			5		0	0	0.001168	0	0
PLCL2	23228	broad.mit.edu	37	3	17052315	17052315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:17052315C>T	uc011awc.2	+	2	1549	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Nonsense_Mutation_p.Q367*	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	493	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R485Q(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CATGACCTCTCAGATAGTTTT	0.398000														35			27		0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6707398	6707398	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:6707398G>A	uc001qpo.3	-	10	1840	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	CHD4_uc001qpn.3_Missense_Mutation_p.S552F|CHD4_uc001qpp.3_Missense_Mutation_p.S556F	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	559	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTGCAGTTCAGAAACCCAGGA	0.517000														168			48		0	0	0.003610	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562836	11562836	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:11562836C>T	uc001ash.4	+	2	1336	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	PTCHD2_uc001asi.1_Silent_p.L400L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	400					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L617M(1)|p.P400T(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTGAGATCCTGTTTGGAGC	0.562000														26			17		0	0	0.004007	0	0
IL16	3603	broad.mit.edu	37	15	81591938	81591939	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:81591938_81591939CC>TT	uc021ssh.1	+	12	2372_2373	c.2271_2272CC>TT	c.(2269-2274)acccca>acTTca	p.P758S	IL16_uc010blq.1_Missense_Mutation_p.P712S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P800S|IL16_uc002bgg.3_Missense_Mutation_p.P758S|IL16_uc002bgi.1_Missense_Mutation_p.P148S|IL16_uc002bgj.3_Missense_Mutation_p.P252S|IL16_uc021ssi.1_Missense_Mutation_p.P57S|IL16_uc002bgl.1_Missense_Mutation_p.P57S|IL16_uc010unq.1_Missense_Mutation_p.P57S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	758					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGATGGGACCCCACCAAAGCT	0.554000														85			21		0	0	0.004672	0	0
DGKG	1608	broad.mit.edu	37	3	185969598	185969598	+	Missense_Mutation	SNP	C	T	T	rs79928844		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:185969598C>T	uc003fqa.3	-	18	2248	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R	DGKG_uc003fqb.3_Missense_Mutation_p.G532R|DGKG_uc003fqc.3_Missense_Mutation_p.G546R|DGKG_uc011brx.2_Missense_Mutation_p.G512R	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	571					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCTGGTCCCCGTTTTCCACT	0.507000														76			25		0	0	0.005443	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177128	70177128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:70177128C>T	uc010moc.3	-	0	1688	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	286					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						TCCGCGCCTTCTGCTTTCTTC	0.687000														48			36		0	0	0.003610	0	0
ATP4B	496	broad.mit.edu	37	13	114307750	114307750	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:114307750C>T	uc001vtz.3	-	3	296	c.242_splice	c.e3-1	p.G81_splice	ATP4B_uc010agy.2_Splice_Site_p.G81_splice	NM_000705	NP_000696	P51164	ATP4B_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, beta polypeptide (ATP4B), mRNA.	81					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	AAGGTTACCCCTGGAGAGAGA	0.522000														38			30		0	0	0.008361	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351221	60351221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:60351221C>T	uc002izq.2	-	2	206	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CCCTTGTCCTCTGGCAGCCCA	0.597000														105			130		0	0	0.003610	0	0
CCNJL	79616	broad.mit.edu	37	5	159686747	159686747	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:159686747G>A	uc003lyb.1	-	4	708	c.456C>T	c.(454-456)ccC>ccT	p.P152P	CCNJL_uc011dee.1_Silent_p.P104P|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.P104P	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	152	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCAACTTGGGGACGTGGT	0.567000														66			23		0	0	0.003330	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062007	41062007	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:41062007G>A	uc002ony.3	+	24	5188	c.5102G>A	c.(5101-5103)cGg>cAg	p.R1701Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1701Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1701Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R444Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R377Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1701					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCAGCCGGCGGCAGTCTCAG	0.667000														14			20		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13776728	13776728	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:13776728G>A	uc003jfd.2	-	54	9235	c.9193C>T	c.(9193-9195)Cct>Tct	p.P3065S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3065	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATTGGTAGGAAGGCACCTG	0.443000									Kartagener syndrome					46			40		0	0	0.007835	0	0
GRIK3	2899	broad.mit.edu	37	1	37282688	37282688	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:37282688C>T	uc001caz.2	-	12	2199	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	GRIK3_uc001cba.1_Silent_p.K688K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	688					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCCCCATCCTTGACAGCCC	0.557000														28			14		0	0	0.003163	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152185	151152185	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:151152185T>A	uc011eem.1	+	14	2203	c.2115T>A	c.(2113-2115)ttT>ttA	p.F705L	PLEKHG1_uc011eel.1_Missense_Mutation_p.F686L|PLEKHG1_uc003qny.1_Missense_Mutation_p.F646L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.F646L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	646					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGACTCCCTTTGGGTCATCCA	0.458000														12			20		0	0	0.007413	0	0
LOC283867	283867	broad.mit.edu	37	16	65397140	65397140	+	RNA	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:65397140G>A	uc010cdo.1	-	1		c.201C>T			LOC283867_uc010cdp.1_Non-coding_Transcript|LOC283867_uc002eol.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC283867 (LOC283867), non-coding RNA.																OV - Ovarian serous cystadenocarcinoma(108;0.17)		GACAGTCATTGAACACAGTAG	0.398000														61			37		0	0	0.006999	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240004	5240004	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:5240004C>T	uc003jdl.3	+	15	2627	c.2489C>T	c.(2488-2490)gCt>gTt	p.A830V	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A830V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	830	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AACTTAATCGCTACTGGACCA	0.507000														54			75		0	0	0.003610	0	0
ATP1A4	480	broad.mit.edu	37	1	160141494	160141494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:160141494C>T	uc001fve.4	+	11	2280	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.P104S	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	601					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATTGACCCTCCCCGAGCTGC	0.488000														84			139		0	0	0.003610	0	0
SUGP1	57794	broad.mit.edu	37	19	19408023	19408023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:19408023G>A	uc002nmh.3	-	7	1034	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	SUGP1_uc002nmf.3_5'UTR|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_Missense_Mutation_p.P130S|SUGP1_uc002nmj.3_Missense_Mutation_p.P130S|SUGP1_uc010xqr.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	340	Pro-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGGCCTCAGGAGGGGACTTG	0.657000														52			54		0	0	0.003610	0	0
TC2N	123036	broad.mit.edu	37	14	92268739	92268739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:92268739G>A	uc001xzu.4	-	3	519	c.328C>T	c.(328-330)Cga>Tga	p.R110*	TC2N_uc001xzt.4_Nonsense_Mutation_p.R110*|TC2N_uc010auc.3_Nonsense_Mutation_p.R110*|TC2N_uc001xzv.4_Nonsense_Mutation_p.R110*	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	110						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCTACCTTTCGATCTCCAAAA	0.418000														33			9		0	0	0.008291	0	0
MYOCD	93649	broad.mit.edu	37	17	12656451	12656451	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:12656451G>A	uc002gno.2	+	9	2145	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	MYOCD_uc002gnn.2_Missense_Mutation_p.E616K|MYOCD_uc002gnp.1_Missense_Mutation_p.E520K|MYOCD_uc002gnq.2_Missense_Mutation_p.E335K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	616					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCATTGTGTGGAGTCCTCAGA	0.517000														111			47		0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482688	76482688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:76482688C>T	uc002fex.1	+	4	915	c.776C>T	c.(775-777)tCc>tTc	p.S259F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S255F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S168F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S231F|CNTNAP4_uc002few.2_Missense_Mutation_p.S231F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	256	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTTCCACTTCCACCCTGGTC	0.463000														15			3		0	0	0.004672	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997107	15997107	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:15997107C>T	uc002nbs.1	-	7	980	c.930G>A	c.(928-930)ggG>ggA	p.G310G	CYP4F2_uc010xot.1_Silent_p.G161G|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	310					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATAACTTCTTCCCGTCTTCAT	0.532000														178			62		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460435	110460435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110460435C>T	uc003yne.3	+	38	5944	c.5840C>T	c.(5839-5841)tCc>tTc	p.S1947F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1947	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAAATCTCCGTGATGATA	0.393000										HNSCC(38;0.096)				20			7		0	0	0.003080	0	0
FPR3	2359	broad.mit.edu	37	19	52327535	52327535	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:52327535C>T	uc002pxt.1	+	1	718	c.534C>T	c.(532-534)ttC>ttT	p.F178F	FPR3_uc021uyq.1_Silent_p.F178F	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	178					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACTGTATTTTCAACTTTGCAT	0.433000														72			51		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108117669	108117669	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:108117669C>T	uc003dxa.1	-	35	5065	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1670						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.D1670H(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCTGTCATCCAGCTGCATT	0.498000														124			43		0	0	0.007835	0	0
DPYS	1807	broad.mit.edu	37	8	105459605	105459605	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:105459605C>T	uc003yly.4	-	2	679	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	184					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTCCAATTTCCTTGCACCGA	0.443000														44			12		0	0	0.001855	0	0
WTIP	126374	broad.mit.edu	37	19	34983992	34983992	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:34983992T>G	uc002nvm.3	+	2	820	c.820T>G	c.(820-822)Tgc>Ggc	p.C274G		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAAGTGTACTGCCAGGAGGA	0.627000														59			52		0	0	0.003610	0	0
JMJD4	65094	broad.mit.edu	37	1	227921164	227921165	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:227921164_227921165CC>TT	uc001hrb.3	-	3	910_911	c.910_911GG>AA	c.(910-912)ggc>AAc	p.G304N	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|SNAP47_uc001hqx.4_Non-coding_Transcript|SNAP47_uc001hqy.4_Non-coding_Transcript|JMJD4_uc001hrc.3_Missense_Mutation_p.G304N	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	304	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CACCATCTCGCCCGCTTCCTGC	0.624000														24			31		0	0	0.004672	0	0
MYOM2	9172	broad.mit.edu	37	8	2057234	2057234	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:2057234G>A	uc003wpx.4	+	24	3230	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	MYOM2_uc011kwi.2_Missense_Mutation_p.R456Q	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1031					muscle contraction	myosin filament	structural constituent of muscle	p.R1031R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GATAAGGGGCGGGTTCGCTTC	0.443000														22			28		0	0	0.006320	0	0
FTSJD2	23070	broad.mit.edu	37	6	37438796	37438796	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:37438796G>A	uc003ons.3	+	14	1759	c.1506_splice	c.e14-1	p.S502_splice		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	502					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TTTTCTTCTAGCCACTGTAGT	0.413000														51			11		0	0	0.000978	0	0
PCDH18	54510	broad.mit.edu	37	4	138451538	138451538	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:138451538C>T	uc003ihe.4	-	0	2092	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PCDH18_uc003ihf.4_Missense_Mutation_p.E562K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E349K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	569	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCATTTTCGTCAATGATG	0.458000														90			53		0	0	0.003610	0	0
MYPN	84665	broad.mit.edu	37	10	69902729	69902729	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:69902729C>T	uc001jnm.4	+	3	1120	c.935C>T	c.(934-936)tCc>tTc	p.S312F	MYPN_uc001jnl.1_Missense_Mutation_p.S312F|MYPN_uc001jnn.4_Missense_Mutation_p.S37F|MYPN_uc001jno.4_Missense_Mutation_p.S312F|MYPN_uc001jnp.1_Missense_Mutation_p.S312F|MYPN_uc009xps.3_Missense_Mutation_p.S312F|MYPN_uc009xpt.3_Missense_Mutation_p.S312F|MYPN_uc010qit.2_Missense_Mutation_p.S18F|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	312	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTGAAAATTCCCCAGATATT	0.468000														13			40		0	0	0.008740	0	0
IL6R	3570	broad.mit.edu	37	1	154408531	154408531	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:154408531C>T	uc001fez.2	+	5	1331	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL6R_uc021paf.1_Silent_p.F298F|IL6R_uc001ffa.2_Silent_p.F298F	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	298	Fibronectin type-III.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGAGGAGTTCGGGCAAGGCG	0.642000														91			18		0	0	0.008871	0	0
RNF5P1	286140	broad.mit.edu	37	8	38458541	38458541	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:38458541G>C	uc003xly.3	-	0	235	c.178C>G	c.(178-180)Cgg>Ggg	p.R60G						Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																		CACTCTTGCCGTTCTGGCCGT	0.532000														237			8		0	0	0.004482	0	0
OR2B2	81697	broad.mit.edu	37	6	27879786	27879786	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:27879786G>A	uc011dkw.2	-	0	389	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAAGGCCAGGAAAATGAAAA	0.448000														41			30		0	0	0.008361	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55354367	55354367	+	Missense_Mutation	SNP	A	G	G	rs1130508		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55354367A>G	uc002qhm.1	+	5	731	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Intron|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	332					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACCAAGCTCCAAAACCGGTGA	0.507000														79			5		0	0	0.000602	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	T	T	rs149004156	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:320606G>T	uc001lpa.2	-	0	309	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(6)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000														94			6		3.86212e-05	6.37934e-05	0.008291	1	0
SYT3	84258	broad.mit.edu	37	19	51133395	51133395	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:51133395C>T	uc002pst.3	-	2	1342	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SYT3_uc002psv.3_Silent_p.Q236Q|SYT3_uc010ycd.2_Silent_p.Q236Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	236						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGGTCAGAGTCTGCTGGGTGA	0.642000														18			18		0	0	0.004990	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512625	35512625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:35512625C>T	uc010xsf.1	+	14	1625	c.1625C>T	c.(1624-1626)tCt>tTt	p.S542F	GRAMD1A_uc010xse.1_Missense_Mutation_p.S537F|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S530F|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S303F|GRAMD1A_uc002nxn.1_Missense_Mutation_p.S152F	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	537						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGCTGTCTCTGGAGGAA	0.697000														45			32		0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152576738	152576738	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:152576738G>A	uc021zhb.1	-	100	19471	c.19248C>T	c.(19246-19248)ctC>ctT	p.L6416L	SYNE1_uc003qos.4_Silent_p.L940L|SYNE1_uc003qot.4_Silent_p.L6345L|SYNE1_uc003qou.4_Silent_p.L6416L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6416					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGGTTGAAGAGACAAGTCT	0.383000										HNSCC(10;0.0054)				34			26		0	0	0.004656	0	0
CTCFL	140690	broad.mit.edu	37	20	56078638	56078638	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:56078638G>A	uc010giw.1	-	9	1805	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	CTCFL_uc010gix.1_Missense_Mutation_p.S565L|CTCFL_uc002xym.2_Missense_Mutation_p.S565L|CTCFL_uc010gjb.1_Missense_Mutation_p.S565L|CTCFL_uc010gja.1_Missense_Mutation_p.S515L|CTCFL_uc010gjc.1_Missense_Mutation_p.S565L|CTCFL_uc010gjd.1_Missense_Mutation_p.S565L|CTCFL_uc010gje.3_Missense_Mutation_p.S565L|CTCFL_uc010gjg.3_Missense_Mutation_p.S297L|CTCFL_uc010gjf.3_Missense_Mutation_p.S360L|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	565					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTTCTCCGAATGTCTGTG	0.547000														62			22		0	0	0.003954	0	0
RMI2	116028	broad.mit.edu	37	16	11444533	11444533	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:11444533C>T	uc002daw.1	+	1	348	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RMI2_uc002daq.1_Non-coding_Transcript	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	Homo sapiens RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae) (RMI2), mRNA.	110					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						TGGTTCAGGCCTGCAGCCCTG	0.433000														163			21		0	0	0.002299	0	0
DCC	1630	broad.mit.edu	37	18	50961561	50961561	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:50961561G>A	uc002lfe.2	+	21	3827	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	DCC_uc010dpf.2_Missense_Mutation_p.D706N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1071					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAATTTGATTGATAGAAGCAC	0.328000														115			114		0	0	0.003610	0	0
ATP2B2	491	broad.mit.edu	37	3	10417121	10417121	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:10417121G>A	uc003bvt.3	-	10	1848	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	ATP2B2_uc003bvv.3_Missense_Mutation_p.S425L|ATP2B2_uc003bvw.3_Missense_Mutation_p.S425L|ATP2B2_uc010hdo.3_Missense_Mutation_p.S175L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	470					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACCTTCACCGAATAGGCCAA	0.627000														55			19		0	0	0.007413	0	0
C15orf33	196951	broad.mit.edu	37	15	49659751	49659751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:49659751C>T	uc001zxl.2	-	12	1459	c.1165G>A	c.(1165-1167)Ggt>Agt	p.G389S		NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	389										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGACTCTGACCTCCAAAATTG	0.353000														22			33		0	0	0.001786	0	0
KIAA1609	57707	broad.mit.edu	37	16	84529504	84529504	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:84529504C>T	uc002fib.3	-	2	276	c.169G>A	c.(169-171)Gct>Act	p.A57T	KIAA1609_uc010vod.2_Missense_Mutation_p.A30T	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	57							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						GGGGGAAGAGCTTCCCCGACG	0.527000														74			45		0	0	0.003610	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146017869	146017869	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:146017869C>T	uc011dbv.2	-	7	1172	c.909G>A	c.(907-909)ggG>ggA	p.G303G	PPP2R2B_uc010jgm.3_Silent_p.G234G|PPP2R2B_uc003loe.3_Silent_p.G245G|PPP2R2B_uc003log.4_Silent_p.G245G|PPP2R2B_uc003lof.4_Silent_p.G245G|PPP2R2B_uc003loi.4_Silent_p.G248G|PPP2R2B_uc003loh.4_Silent_p.G245G|PPP2R2B_uc003lok.4_Silent_p.G234G|PPP2R2B_uc003loj.4_Silent_p.G225G|PPP2R2B_uc011dbu.2_Silent_p.G251G	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	245					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGGATTGTCCCTTTGCTGC	0.582000														37			19		0	0	0.001523	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314461	25314461	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:25314461C>T	uc003grl.4	+	0	66	c.30C>T	c.(28-30)gcC>gcT	p.A10A		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	10							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGTTTGAAGCCGTGGAGGCAG	0.652000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			60		0	0	0.003610	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058665	152058665	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:152058665C>T	uc001ezo.1	-	2	1558	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	498							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTTGTGTTCTTTCTCTTGC	0.483000														94			208		0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48698609	48698609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:48698609C>T	uc003cuf.1	-	2	1669	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	CELSR3_uc003cul.3_Missense_Mutation_p.E487K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	487	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATCAATCTCGAAGGCGGCG	0.697000														1			8		0	0	0.003080	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260630	1260630	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:1260630C>T	uc002cks.3	+	19	4265	c.4017C>T	c.(4015-4017)ttC>ttT	p.F1339F	CACNA1H_uc002ckt.3_Silent_p.F1339F|CACNA1H_uc002cku.3_Silent_p.F45F|CACNA1H_uc010brj.3_Silent_p.F45F|CACNA1H_uc002ckv.3_Silent_p.F45F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1339					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGGCCATCTTCGTGGCGGAGA	0.677000														23			14		0	0	0.004990	0	0
TRIM46	80128	broad.mit.edu	37	1	155149757	155149757	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:155149757G>A	uc001fhs.1	+	4	983	c.900G>A	c.(898-900)agG>agA	p.R300R	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Silent_p.R287R|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Silent_p.R300R|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.R174R|TRIM46_uc001fhu.1_Silent_p.R277R|TRIM46_uc009wpg.1_Silent_p.R287R|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	300						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCGTGAGGCACACCGAGG	0.602000														33			70		0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51772994	51772994	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:51772994G>A	uc010ufy.2	-	23	6534	c.6309C>T	c.(6307-6309)tcC>tcT	p.S2103S	DMXL2_uc002abd.3_Silent_p.S173S|DMXL2_uc002abf.3_Silent_p.S2103S|DMXL2_uc010bfa.3_Silent_p.S1467S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2103						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)		TCTCTACTTTGGAATATGTCT	0.378000														56			52		0	0	0.003610	0	0
C7orf62	219557	broad.mit.edu	37	7	88424233	88424233	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:88424233C>T	uc003ujv.3	-	1	206	c.24G>A	c.(22-24)caG>caA	p.Q8Q	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.Q8Q	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	8										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCTGCCCTTCTGGTTATGGA	0.423000														102			28		0	0	0.001786	0	0
ACACB	32	broad.mit.edu	37	12	109623461	109623461	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:109623461C>T	uc001tob.3	+	11	2015	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	ACACB_uc001toc.3_Silent_p.P632P	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	632	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAGTGACTCCCATTTCTTTTG	0.567000														22			26		0	0	0.006320	0	0
abParts	0	broad.mit.edu	37	14	106725222	106725222	+	RNA	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:106725222C>T	uc021ser.1	-	927		c.22290G>A								Parts of antibodies, mostly variable regions.																		AATATACGGCCGTGTCCTCGG	0.547000														274			41		0	0	0.002852	0	0
PUS7	54517	broad.mit.edu	37	7	105135651	105135651	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:105135651G>A	uc010lji.3	-	5	806	c.798C>T	c.(796-798)ttC>ttT	p.F266F	PUS7_uc003vcx.3_Silent_p.F260F|PUS7_uc003vcy.3_Silent_p.F260F|PUS7_uc003vcz.1_Silent_p.F260F	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	260					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TATATAGTACGAAGTGGCAGT	0.318000														131			38		0	0	0.006999	0	0
NOD2	64127	broad.mit.edu	37	16	50744993	50744993	+	Missense_Mutation	SNP	C	T	T	rs104895481		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:50744993C>T	uc002egm.1	+	3	1276	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	NOD2_uc021tia.1_Missense_Mutation_p.R223C|NOD2_uc010cbk.1_Missense_Mutation_p.R364C|NOD2_uc002egl.1_Missense_Mutation_p.R169C|NOD2_uc010cbl.1_Missense_Mutation_p.R169C|NOD2_uc010cbm.1_Missense_Mutation_p.R169C|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	391	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTTCACGGATCGTGAACGCCA	0.547000														54			48		0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	68989633	68989633	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:68989633G>A	uc003xxv.1	+	15	1597	c.1570_splice	c.e15-1	p.G524_splice	PREX2_uc003xxu.1_Splice_Site_p.G524_splice|PREX2_uc011lez.1_Splice_Site_p.G459_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	524	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTTAACAGGGAGATTGCCGC	0.448000														63			14		0	0	0.002450	0	0
DOCK3	1795	broad.mit.edu	37	3	51352435	51352435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:51352435C>T	uc011bds.2	+	31	3301	c.3278C>T	c.(3277-3279)cCg>cTg	p.P1093L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1093						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			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)		CACTTTATTCCGGGAATGATT	0.453000														15			5		0	0	0.001168	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761987	130761987	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:130761987C>T	uc003qcb.3	+	1	2798	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM200A_uc003qca.3_Silent_p.F140F|TMEM200A_uc010kfh.3_Silent_p.F140F|TMEM200A_uc010kfi.3_Silent_p.F140F|TMEM200A_uc021zfg.1_Silent_p.F140F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	140						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTCATTTTCATTTGTGCTA	0.413000														7			25		0	0	0.003330	0	0
DRGX	644168	broad.mit.edu	37	10	50594829	50594829	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:50594829C>T	uc010qgq.2	-	3	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K	DRGX_uc021pqd.1_Missense_Mutation_p.E104K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	109					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCCATGGGCTCCTTGGCTCCT	0.592000														26			74		0	0	0.003610	0	0
TRIM67	440730	broad.mit.edu	37	1	231335968	231335968	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:231335968G>A	uc009xfn.1	+	3	1380	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	446						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACTGCCTGGAGGTGATCAAGG	0.527000														71			97		0	0	0.003610	0	0
UTP14C	9724	broad.mit.edu	37	13	52603949	52603949	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:52603949C>T	uc001vgb.3	+	1	1571	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Q337*	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	337					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ACAGAAACTCCAGGTAGCCTC	0.507000														74			17		0	0	0.006122	0	0
FRMD7	90167	broad.mit.edu	37	X	131212337	131212337	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:131212337C>T	uc004ewn.3	-	11	1886	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	FRMD7_uc022cdy.1_Missense_Mutation_p.E450K|FRMD7_uc011muy.2_Missense_Mutation_p.E555K	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	570					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTTGGGTCTTCCTCTTCTAGA	0.418000														75			83		0	0	0.003610	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626590	56626590	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:56626590G>A	uc010sqj.2	+	4	662	c.405G>A	c.(403-405)tcG>tcA	p.S135S	SLC39A5_uc010sqi.2_Silent_p.S26S|SLC39A5_uc010sqk.2_Silent_p.S135S	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	135					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCCCCTCGGGCCTGGACC	0.617000														30			23		0	0	0.003954	0	0
MSH6	2956	broad.mit.edu	37	2	48027152	48027152	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:48027152G>T	uc002rwd.4	+	3	2182	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	MSH6_uc002rwc.2_Missense_Mutation_p.S677I|MSH6_uc010fbj.3_Missense_Mutation_p.S375I|MSH6_uc010yoj.2_Missense_Mutation_p.S375I	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	677					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGAGAAAAGTGAATTGGCC	0.418000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					122			37		4.11147e-13	6.84394e-13	0.003755	1	0
CDK2AP1	8099	broad.mit.edu	37	12	123749768	123749768	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:123749768C>A	uc001ueq.3	-	2	777	c.255G>T	c.(253-255)aaG>aaT	p.K85N		NM_004642	NP_004633	O14519	CDKA1_HUMAN	Homo sapiens cyclin-dependent kinase 2 associated protein 1 (CDK2AP1), mRNA.	85					DNA-dependent DNA replication|S phase of mitotic cell cycle|protein phosphorylation	cytoplasm|nucleus	DNA binding|protein binding			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		CCATGGCACTCTTGCTCCCTG	0.577000														165			81		1.17954e-47	1.96957e-47	0.003610	1	0
ABCC4	10257	broad.mit.edu	37	13	95813473	95813473	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:95813473G>A	uc001vmd.4	-	18	2544	c.2425C>T	c.(2425-2427)Ccg>Tcg	p.P809S	ABCC4_uc010afk.3_Missense_Mutation_p.P762S|ABCC4_uc001vme.2_Missense_Mutation_p.P809S|ABCC4_uc010tih.1_Missense_Mutation_p.P734S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	809	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AATAATACCGGAGCTTTCAGA	0.348000														15			25		0	0	0.004656	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14639895	14639895	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:14639895G>A	uc003zlh.2	-	8	1099	c.621_splice	c.e8+1	p.T207_splice	ZDHHC21_uc003zlg.2_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA.	207					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		TATACTTACTGTGATGATGCC	0.299000														10			20		0	0	0.001523	0	0
PSMC4	5704	broad.mit.edu	37	19	40486287	40486287	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40486287G>A	uc002omq.3	+	8	1050	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	PSMC4_uc002omr.3_Missense_Mutation_p.R307H	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	338					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTCCTGACCGCCGCCAGAAG	0.522000														151			56		0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21097567	21097567	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:21097567C>T	uc001iqi.3	-	25	3030	c.2633G>A	c.(2632-2634)cGa>cAa	p.R878Q	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	878	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACCAGTGTCGCCTATAGTG	0.413000														31			51		0	0	0.003610	0	0
AKT3	10000	broad.mit.edu	37	1	243716030	243716030	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:243716030C>T	uc001iab.2	-	10	1275	c.1163_splice	c.e10+1	p.R388_splice	AKT3_uc001hzz.1_Splice_Site_p.R388_splice|AKT3_uc021plu.1_Splice_Site_p.R388_splice	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA.	388	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTGAGGCTTACCGTTTATTTG	0.308000														55			14		0	0	0.002450	0	0
TIAM2	26230	broad.mit.edu	37	6	155578089	155578089	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:155578089G>A	uc003qqb.3	+	28	6213	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	TIAM2_uc003qqe.3_Missense_Mutation_p.G1647E|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.G1209E|TIAM2_uc003qqf.3_Missense_Mutation_p.G1023E|TIAM2_uc011efl.1_Missense_Mutation_p.G991E|TIAM2_uc003qqg.3_Missense_Mutation_p.G959E|TIAM2_uc003qqh.3_Missense_Mutation_p.G572E|TFB1M_uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1647					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGGACAGAGGAACTTTGCTC	0.532000														8			15		0	0	0.002450	0	0
DNAH1	25981	broad.mit.edu	37	3	52434413	52434413	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:52434413G>A	uc011bef.2	+	77	13010	c.12749G>A	c.(12748-12750)cGa>cAa	p.R4250Q	DNAH1_uc003ddv.3_3'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4315					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCCCCAGCGACACTGGATA	0.537000														62			61		0	0	0.003610	0	0
BEND4	389206	broad.mit.edu	37	4	42122147	42122148	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:42122147_42122148CC>TT	uc003gwn.3	-	4	1890_1891	c.1310_1311GG>AA	c.(1309-1311)agg>aAA	p.R437K	BEND4_uc003gwm.3_Missense_Mutation_p.R437K|BEND4_uc011byy.1_Missense_Mutation_p.R437K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	437	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTGACCTTTTCCTTTTCCCAAG	0.485000														21			10		0	0	0.004672	0	0
GABRR1	2569	broad.mit.edu	37	6	89891630	89891630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:89891630G>A	uc003pna.2	-	7	1398	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	GABRR1_uc011dzv.1_Missense_Mutation_p.P292S	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTACCTAAGGGGACTCTGGCA	0.453000														76			48		0	0	0.003610	0	0
C1orf51	148523	broad.mit.edu	37	1	150259002	150259002	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:150259002C>T	uc001euj.3	+	4	1243	c.794C>T	c.(793-795)cCa>cTa	p.P265L	C1orf51_uc001euh.3_Missense_Mutation_p.P265L|C1orf51_uc001eui.3_Missense_Mutation_p.P177L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	265										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACACCACTCCAATTTGCAAC	0.517000														108			23		0	0	0.003330	0	0
STXBP2	6813	broad.mit.edu	37	19	7707104	7707104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:7707104C>T	uc010xjr.2	+	8	757	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	STXBP2_uc002mha.4_Missense_Mutation_p.R227C|STXBP2_uc002mhb.4_Missense_Mutation_p.R224C|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	227					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAGAAAACCCGCTCCCAGCT	0.632000														55			17		0	0	0.004990	0	0
AKD1	221264	broad.mit.edu	37	6	109850223	109850223	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:109850223T>A	uc003ptn.2	-	28	3701	c.3624A>T	c.(3622-3624)aaA>aaT	p.K1208N	AKD1_uc011eat.1_Missense_Mutation_p.K287N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1208					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CCTCCCTCCTTTTTTTATCTC	0.373000														51			37		0	0	0.005524	0	0
ZNF831	128611	broad.mit.edu	37	20	57766216	57766216	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:57766216C>T	uc002yan.3	+	0	142	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	48	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGCAGGGCCTGGCCCCCCC	0.731000														21			6		0	0	0.003080	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99003878	99003878	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:99003878G>A	uc001knb.3	-	7	1078	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Silent_p.S335S|ARHGAP19_uc009xvj.3_Silent_p.S315S|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Silent_p.S138S	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	344					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CCAGCTGAAAGGACTTAGTAT	0.448000														43			21		0	0	0.002299	0	0
ADCY8	114	broad.mit.edu	37	8	131848589	131848589	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:131848589G>A	uc003ytd.4	-	11	2865	c.2609C>T	c.(2608-2610)gCc>gTc	p.A870V	ADCY8_uc010mds.3_Missense_Mutation_p.A739V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTGAGCAGGGCATAGATGGC	0.557000										HNSCC(32;0.087)				43			49		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10399285	10399285	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10399285A>G	uc002gmo.3	-	34	5245	c.5151T>C	c.(5149-5151)gtT>gtC	p.V1717V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1717						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGAGCTGAACACGCTCAC	0.483000														35			17		0	0	0.004007	0	0
FAM55D	54827	broad.mit.edu	37	11	114442128	114442128	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:114442128C>T	uc001ppc.3	-	5	1348	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	FAM55D_uc001ppd.3_Silent_p.R105R	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	389						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGTTGATGTTCCTATCCAAAT	0.418000														164			7		0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32380965	32380965	+	Silent	SNP	G	A	A	rs145515413	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:32380965G>A	uc004dda.1	-	36	5509	c.5265C>T	c.(5263-5265)ccC>ccT	p.P1755P	DMD_uc004dcw.2_Silent_p.P411P|DMD_uc004dcx.2_Silent_p.P414P|DMD_uc004dcz.2_Silent_p.P1632P|DMD_uc004dcy.1_Silent_p.P1751P|DMD_uc004ddb.1_Silent_p.P1747P|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1755	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGAGATTTGGGGCTCTACTA	0.468000														108			25		0	0	0.007291	0	0
DNAH10	196385	broad.mit.edu	37	12	124272420	124272420	+	Silent	SNP	C	T	T	rs144145237		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:124272420C>T	uc001uft.4	+	9	1333	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	436	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E435G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAAAAGGCCTATTTTGACA	0.557000														30			11		0	0	0.001368	0	0
PRSS50	29122	broad.mit.edu	37	3	46753880	46753880	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:46753880C>T	uc003cqe.1	-	5	1496	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	PRSS50_uc021wxe.1_Silent_p.E338E|PRSS50_uc003cqf.2_Silent_p.E252E	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	338	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.S337I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGGGTGGGGCCTCGCTCTTCT	0.642000														17			16		0	0	0.004990	0	0
AFM	173	broad.mit.edu	37	4	74354467	74354467	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:74354467C>T	uc003hhb.3	+	6	865	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	278	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCAGTGCATCCGTGACACGG	0.358000														40			27		0	0	0.005443	0	0
ABCG1	9619	broad.mit.edu	37	21	43702515	43702515	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:43702515C>T	uc011aev.2	+	5	827	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ABCG1_uc002zam.3_Silent_p.F218F|ABCG1_uc002zan.3_Silent_p.F242F|ABCG1_uc002zao.3_Silent_p.F237F|ABCG1_uc002zap.3_Silent_p.F240F|ABCG1_uc002zaq.3_Silent_p.F240F|ABCG1_uc002zar.3_Silent_p.F251F	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	240	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCATGTTCTTCGATGAGCCCA	0.607000														27			8		0	0	0.003080	0	0
MIP	4284	broad.mit.edu	37	12	56845221	56845221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:56845221C>T	uc001slh.3	-	3	673	c.635G>A	c.(634-636)gGg>gAg	p.G212E	TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	212					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.G212E(2)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCCCAGACCCCCTCCAATGAT	0.537000														70			83		0	0	0.003610	0	0
ITSN1	6453	broad.mit.edu	37	21	35169762	35169762	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:35169762G>A	uc002yta.1	+	17	2300	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.E562K|ITSN1_uc002ysy.3_Missense_Mutation_p.E678K|ITSN1_uc002ysx.3_Missense_Mutation_p.E641K|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.E678K|ITSN1_uc010gmg.3_Missense_Mutation_p.E641K|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.E678K|ITSN1_uc010gmi.3_Missense_Mutation_p.E641K|ITSN1_uc002ytb.1_Missense_Mutation_p.E678K|ITSN1_uc002ytc.1_Missense_Mutation_p.E678K|ITSN1_uc010gmk.3_Missense_Mutation_p.E641K|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.E678K|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.E612K|ITSN1_uc021wip.1_Missense_Mutation_p.E572K	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	678	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAAACTCCACGAAGAGGAAAA	0.502000														83			50		0	0	0.003610	0	0
KCND2	3751	broad.mit.edu	37	7	120373061	120373061	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:120373061C>T	uc003vjj.1	+	1	2185	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	407					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTGATTGTATCCAACTTCAGT	0.483000														37			14		0	0	0.001855	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566986	45566986	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:45566986C>T	uc010dnv.3	-	2	995	c.559G>A	c.(559-561)Gat>Aat	p.D187N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D165N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D174N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D165N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D187N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D214N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D174N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D187N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D187N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D174N|ZBTB7C_uc010don.1_Missense_Mutation_p.D173N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D174N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D187N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D165N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D165N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D174N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	165						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGTCATCATCGTCAtcctcc	0.552000														62			21		0	0	0.002299	0	0
ARSF	416	broad.mit.edu	37	X	3021913	3021913	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:3021913G>A	uc022brz.1	+	8	1349	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	ARSF_uc004cre.2_Missense_Mutation_p.D405N|ARSF_uc004crf.2_Missense_Mutation_p.D405N	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	405						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGTTTAATGGATATTTTACC	0.483000														56			21		0	0	0.002299	0	0
C18orf34	374864	broad.mit.edu	37	18	30913285	30913285	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:30913285A>G	uc010xbr.1	-	8	874	c.732T>C	c.(730-732)caT>caC	p.H244H	C18orf34_uc002kxn.2_Silent_p.H244H|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.H244H|C18orf34_uc002kxp.3_Silent_p.H244H	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	244										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						GTTTTTCAAAATGTTGTAGTT	0.348000														45			23		0	0	0.002780	0	0
PKD1L2	114780	broad.mit.edu	37	16	81164149	81164149	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:81164149C>T	uc002fgh.1	-	35	5955	c.5955G>A	c.(5953-5955)agG>agA	p.R1985R	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1986					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAAAAGCCCCTGGTGAAGC	0.592000														8			7		0	0	0.001984	0	0
DDAH2	23564	broad.mit.edu	37	6	31696664	31696664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31696664C>T	uc003nwp.3	-	0	906	c.275G>A	c.(274-276)tGg>tAg	p.W92*	DDAH2_uc003nwq.3_Nonsense_Mutation_p.W92*	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	92					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	AGCGGGGCTCCAGGGCCGCGT	0.642000														331			13		0	0	0.001855	0	0
CHN1	1123	broad.mit.edu	37	2	175664938	175664938	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:175664938G>A	uc002uji.3	-	12	1627	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	CHN1_uc010zeq.2_Missense_Mutation_p.S403F|CHN1_uc002ujj.3_Missense_Mutation_p.S204F|CHN1_uc002ujg.3_Missense_Mutation_p.S304F	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	429	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TAGTTCTGGAGATCTCATAAG	0.408000			T	TAF15	extraskeletal myxoid chondrosarcoma									26			38		0	0	0.004878	0	0
CSTF2	1478	broad.mit.edu	37	X	100092352	100092352	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:100092352A>T	uc004egh.3	+	11	1583	c.1525A>T	c.(1525-1527)Atg>Ttg	p.M509L	CSTF2_uc010nnd.3_Missense_Mutation_p.M529L|CSTF2_uc004egi.3_Missense_Mutation_p.M492L	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	509	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGGAACAGGAATGCAAGGAGC	0.453000														27			38		0	0	0.006999	0	0
SVOPL	136306	broad.mit.edu	37	7	138312160	138312160	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:138312160C>T	uc011kqh.2	-	10	1116	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	SVOPL_uc003vue.3_Silent_p.L220L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	372						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TAGAAAGGCTCAGCCGTCTTC	0.398000														21			7		0	0	0.004482	0	0
CLCN4	1183	broad.mit.edu	37	X	10181826	10181826	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:10181826G>A	uc004csy.4	+	10	2112	c.1682G>A	c.(1681-1683)tGg>tAg	p.W561*	CLCN4_uc011mid.2_Nonsense_Mutation_p.W467*	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	561						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCAGCAAGTGGGTAGCTGAT	0.527000														71			24		0	0	0.006320	0	0
ZFR2	23217	broad.mit.edu	37	19	3834962	3834962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3834962G>A	uc002lyw.2	-	1	85	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	25						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTGGGCAGGGGAAGGGTCGGA	0.627000														17			5		0	0	0.000602	0	0
PDE1C	5137	broad.mit.edu	37	7	31862790	31862790	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:31862790C>T	uc003tcm.2	-	13	1940	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	PDE1C_uc003tcn.1_Silent_p.P493P|PDE1C_uc003tco.2_Silent_p.P553P|PDE1C_uc003tcr.3_Silent_p.P493P|PDE1C_uc003tcs.3_Silent_p.P493P	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A492E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTGTTGATCGGGGCACTTC	0.468000														67			21		0	0	0.001523	0	0
PRRC2B	84726	broad.mit.edu	37	9	134363292	134363292	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:134363292C>T	uc004can.4	+	26	6089	c.6034C>T	c.(6034-6036)Ctc>Ttc	p.L2012F	PRRC2B_uc004cao.4_Missense_Mutation_p.L1369F|PRRC2B_uc004cap.4_Missense_Mutation_p.L157F|SNORD62A_uc004car.3_5'Flank|PRRC2B_uc011mch.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2012							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CACCATGATCCTCTCTGGGGG	0.607000														45			10		0	0	0.008291	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696495	69696495	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:69696495C>T	uc003hee.3	+	5	1510	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	UGT2B10_uc011cam.2_Silent_p.F411F	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	495					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGATTGGGTTCCTGCTGGCTT	0.453000														75			29		0	0	0.008361	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849181	14849181	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:14849181G>C	uc001rcd.3	-	0	339	c.202C>G	c.(202-204)Cgt>Ggt	p.R68G	GUCY2C_uc009zhz.2_Missense_Mutation_p.R68G	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	68					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						TTTTGCAGACGTCCTCTCACT	0.448000														22			7		0	0	0.004482	0	0
MYH2	4620	broad.mit.edu	37	17	10432283	10432283	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10432283C>T	uc010coi.3	-	26	3596	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1156L|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1156					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGCTTCTTCCAGCCTCTCGC	0.622000														110			48		0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57420480	57420480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:57420480G>A	uc001cyp.3	-	3	479	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	C8B_uc010oon.2_Missense_Mutation_p.L76F|C8B_uc010ooo.2_Missense_Mutation_p.L86F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	138	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCAAAGAAGTCTGCGGTTT	0.428000														54			18		0	0	0.008871	0	0
NUP133	55746	broad.mit.edu	37	1	229606385	229606385	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:229606385T>C	uc001htn.3	-	14	2110	c.2018A>G	c.(2017-2019)aAc>aGc	p.N673S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	673					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCCCTCTTGTTCAAAGCAAT	0.483000														36			77		0	0	0.003610	0	0
RAD17	5884	broad.mit.edu	37	5	68677755	68677755	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:68677755C>T	uc003jwo.3	+	3	474	c.412C>T	c.(412-414)Cct>Tct	p.P138S	RAD17_uc003jwg.3_Missense_Mutation_p.P127S|RAD17_uc003jwi.3_Missense_Mutation_p.P127S|RAD17_uc003jwh.3_Missense_Mutation_p.P127S|RAD17_uc003jwj.3_Missense_Mutation_p.P127S|RAD17_uc003jwk.3_Missense_Mutation_p.P127S|RAD17_uc003jwl.3_Missense_Mutation_p.P127S|RAD17_uc003jwm.3_5'UTR|RAD17_uc003jwn.3_Missense_Mutation_p.P41S	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	138					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATAACAGGTCCTCCTGGATG	0.318000								Other conserved DNA damage response genes						28			7		0	0	0.004482	0	0
FGG	2266	broad.mit.edu	37	4	155528085	155528085	+	Missense_Mutation	SNP	G	A	A	rs121913087		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:155528085G>A	uc003ioj.3	-	7	1042	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FGG_uc003iog.3_Missense_Mutation_p.R301C	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	301	Fibrinogen C-terminal.		R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R301H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATGTTAGGCGGTACTTGTCA	0.478000														53			28		0	0	0.001786	0	0
TLR3	7098	broad.mit.edu	37	4	187005174	187005174	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:187005174A>T	uc003iyq.3	+	3	2435	c.2334A>T	c.(2332-2334)gaA>gaT	p.E778D	TLR3_uc011ckz.2_Missense_Mutation_p.E501D|TLR3_uc003iyr.3_Missense_Mutation_p.E501D	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	778	TIR.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.M777I(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTTCAATGGAAAAGGAAGACC	0.368000														45			19		0	0	0.008871	0	0
SEC14L5	9717	broad.mit.edu	37	16	5056031	5056031	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:5056031C>T	uc002cye.2	+	11	1599	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	473	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCCCTGACTTCCTTGGGGGAG	0.587000														33			23		0	0	0.004656	0	0
IL36B	27177	broad.mit.edu	37	2	113783714	113783714	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:113783714G>A	uc002tiq.1	-	4	461	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	119					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						gggttcccatgaagcagctct	0.478000														22			22		0	0	0.001882	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866439	75866439	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:75866439C>T	uc003kek.3	+	3	560	c.338C>T	c.(337-339)aCc>aTc	p.T113I		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	113	CH.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAGATAATACCGTCCAGTGG	0.443000														42			47		0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159273949	159273949	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159273949C>T	uc001ftq.3	+	3	405	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	103	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAGAGTGAACCTGTGTACCTG	0.393000														65			15		0	0	0.004990	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831852	24831852	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:24831852G>A	uc001iru.4	+	18	4056	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.W901*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.W54*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1218					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCCTAAGTGGGAAAGAGGA	0.423000														8			21		0	0	0.001523	0	0
GSDMB	55876	broad.mit.edu	37	17	38065230	38065230	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38065230G>A	uc010cwj.3	-	4	773	c.642C>T	c.(640-642)ttC>ttT	p.F214F	GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Intron|GSDMB_uc002htg.3_Silent_p.F214F|GSDMB_uc002hth.3_Silent_p.F214F|GSDMB_uc010wem.2_Silent_p.F214F	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	214						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCTTGTTGGGGAAGACAAGCT	0.552000														109			98		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167097470	167097470	+	Silent	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167097470G>A	uc001geb.1	+	4	3118	c.3102G>A	c.(3100-3102)gaG>gaA	p.E1034E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1034	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R1033Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTTCCCGAGAGGAGAGCCCAG	0.577000														21			33		0	0	0.003271	0	0
TRIM31	11074	broad.mit.edu	37	6	30071529	30071529	+	Silent	SNP	A	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:30071529A>T	uc003npg.1	-	8	1172	c.1062T>A	c.(1060-1062)tcT>tcA	p.S354S	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	354						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						ATGGGGCTGAAGAGTGGTGAT	0.547000														137			82		0	0	0.003610	0	0
KRT26	353288	broad.mit.edu	37	17	38928008	38928008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38928008C>T	uc002hvf.3	-	0	404	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	120	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCACATTTCTCGTACCAGCCC	0.498000														80			26		0	0	0.003330	0	0
CYTH2	9266	broad.mit.edu	37	19	48977503	48977504	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:48977503_48977504CC>TT	uc002pjj.4	+	6	912_913	c.612_613CC>TT	c.(610-615)gtccgg>gtTTgg	p.R205W		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	205					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.V204I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATCCCAATGTCCGGGACAAGCC	0.634000														50			36		0	0	0.004672	0	0
USP36	57602	broad.mit.edu	37	17	76799935	76799935	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:76799935G>A	uc002jvz.1	-	15	2667	c.2342C>T	c.(2341-2343)tCg>tTg	p.S781L	USP36_uc002jwa.1_Missense_Mutation_p.S781L|USP36_uc002jwb.1_Missense_Mutation_p.S393L|USP36_uc002jwc.1_Missense_Mutation_p.S481L|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	781					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S781L(3)|p.I780M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCGCCGTCGAGATGGAGGA	0.637000														53			65		0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55106864	55106864	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55106864C>T	uc002qgh.1	+	4	840	c.658C>T	c.(658-660)Cta>Tta	p.L220L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.L220L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	220	Ig-like C2-type 2.		L -> P (in dbSNP:rs373854).		cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCTCCTGGTCCTAGGTGAGAA	0.587000														97			20		0	0	0.001523	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762252	92762252	+	Silent	SNP	A	G	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:92762252A>G	uc003umh.1	-	4	4249	c.3033T>C	c.(3031-3033)atT>atC	p.I1011I	SAMD9L_uc003umj.1_Silent_p.I1011I|SAMD9L_uc003umi.1_Silent_p.I1011I|SAMD9L_uc010lfb.1_Silent_p.I1011I|SAMD9L_uc003umk.1_Silent_p.I1011I|SAMD9L_uc010lfc.1_Silent_p.I1011I|SAMD9L_uc010lfd.1_Silent_p.I1011I|SAMD9L_uc022ahh.1_Silent_p.I1011I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1011										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCAATGCAATTTGACATT	0.363000														51			26		0	0	0.003330	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72759590	72759590	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:72759590G>A	uc002jlo.3	+	2	911	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	230	PDZ 2.				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						CAAGCTGCTGGTGGTGGACAG	0.622000														12			21		0	0	0.001523	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171723	4171723	+	Silent	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4171723C>T	uc002lzl.3	+	9	1259	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	CREB3L3_uc002lzm.3_Silent_p.A371A|CREB3L3_uc010xib.2_Silent_p.A370A|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	381					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCGAGGCCCCAGGACCCC	0.637000														117			37		0	0	0.006230	0	0
AMOT	154796	broad.mit.edu	37	X	112048315	112048315	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:112048315C>T	uc004epr.3	-	4	1654	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	AMOT_uc004eps.3_Missense_Mutation_p.E137K	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	546					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGCTGGCTTTCTTTATCTGTC	0.498000														138			56		0	0	0.003610	0	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	-	-	rs11556342		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:154245864_154245866delGAA	uc010peo.2	+	1	267_269	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				---	99	---	---	7	---					
GSDMC	56169	broad.mit.edu	37	8	130789808	130789808	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:130789808delC	uc003ysr.3	-	1	908	c.26delG	c.(25-27)agcfs	p.S9fs		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	9						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAAATTTTTGCTAATGCGTTC	0.403													---	76	---	---	33	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	-	-			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:116187646_116187648delGCA	uc004bhp.3	+	9	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_uc004bho.4_In_Frame_Del_p.Q304del	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													---	122	---	---	7	---					
CCDC81	60494	broad.mit.edu	37	11	86131005	86131014	+	Frame_Shift_Del	DEL	TAAATAGAGT	-	-	rs143827396	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:86131005_86131014delTAAATAGAGT	uc001pbx.2	+	13	2155_2164	c.1727_1736delTAAATAGAGT	c.(1726-1737)gtaaatagagtcfs	p.V576fs	CCDC81_uc001pbw.2_Frame_Shift_Del_p.V486fs|CCDC81_uc010rtq.2_Frame_Shift_Del_p.V359fs|CCDC81_uc001pby.2_Frame_Shift_Del_p.V311fs	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	576										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTGGAGCGAGTAAATAGAGTCAACCAATGC	0.514													---	24	---	---	30	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Frame_Shift_Ins	INS	-	G	G	rs141646579	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:7080210_7080211insG	uc001qsh.4	+	0	267_268	c.124_125insG	c.(124-126)agtfs	p.S42fs	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													---	19	---	---	9	---					
KIAA0182	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	C	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:85682289_85682290insC	uc002fix.3	+	2	432_433	c.358_359insC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													---	172	---	---	7	---					
